diff --git "a/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_LLM_Name_ID.csv" "b/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_LLM_Name_ID.csv" new file mode 100644--- /dev/null +++ "b/BioMedGraphica-Conn/Entity/Disease/BioMedGraphica_Conn_Disease_LLM_Name_ID.csv" @@ -0,0 +1,22430 @@ +BioMedGraphica_Conn_ID,BioMedGraphica_ID,UMLS_Name,UMLS_ID,SNOMEDCT_Name,SNOMEDCT_ID,ICD11_Title,ICD11_ID,MONDO_Name,MONDO_ID,MeSH_Name,MeSH_ID,DO_Name,DO_ID,ICD10_ID,OMIM_ID +BMGC_DS00001,BMG_DS000001,Abetalipoproteinemia,UMLS ID:C0000744,Abetalipoproteinemia | Abetalipoproteinaemia | Abetalipoproteinemia (disorder) | ABL - Abetalipoproteinaemia | Abetalipoproteinaemia | Apolipoprotein B deficiency | Abetalipoproteinemia | ABL - Abetalipoproteinemia | Abetalipoproteinemia (disorder) | Bassen-Kornzweig disease | Homozygous familial hypobetalipoproteinaemia | Homozygous familial hypobetalipoproteinemia,SNOMEDCT ID:83123000 | SNOMEDCT ID:190787008,"Hypolipoproteinaemia, unspecified",ICD11 ID:5C81.Z,abetalipoproteinemia,MONDO:0008692,Abetalipoproteinemia,MeSH ID:D000012,abetalipoproteinemia,DOID:1386,ICD10 ID:E78.6,OMIM ID:MTHU014871 | OMIM ID:200100 +BMGC_DS00002,BMG_DS000002,Abnormality of secretion of gastrin,UMLS ID:C0000774,Abnormality of secretion of gastrin | Abnormality of secretion of gastrin (finding),SNOMEDCT ID:47344007,,,gastrin secretion abnormality,MONDO:0001770,,,gastrin secretion abnormality,DOID:13656,, +BMGC_DS00003,BMG_DS000003,"Abortion, Habitual",UMLS ID:C0000809,,,,,habitual spontaneous abortion,MONDO:0006774,"Abortion, Habitual",MeSH ID:D000026,,,, +BMGC_DS00004,BMG_DS000004,Missed abortion,UMLS ID:C0000814,Missed abortion | Missed abortion (disorder) | Missed abortion | Missed abortion (disorder) | MA - Missed abortion | Silent miscarriage | Missed miscarriage,SNOMEDCT ID:267187007 | SNOMEDCT ID:198616002 | SNOMEDCT ID:156087000 | SNOMEDCT ID:16607004,Missed abortion,ICD11 ID:JA03,,,,,,,ICD10 ID:O02.1, +BMGC_DS00005,BMG_DS000005,,UMLS ID:C0000821,,,,,,,,,placental abruption,DOID:9667,, +BMGC_DS00006,BMG_DS000006,"Abortion, Veterinary",UMLS ID:C0000823,,,,,,,"Abortion, Veterinary",MeSH ID:D000034,,,, +BMGC_DS00007,BMG_DS000007,,UMLS ID:C0000832,,,,,placental abruption,MONDO:0004846,,,,,, +BMGC_DS00008,BMG_DS000008,Abscess,UMLS ID:C0000833,Abscess | Abscess (morphologic abnormality) | Abscess morphology | Abscess (disorder) | Abscess,SNOMEDCT ID:44132006 | SNOMEDCT ID:128477000,,,abscess,MONDO:0005227,Abscess,MeSH ID:D000038,,,, +BMGC_DS00009,BMG_DS000009,Acanthamoeba Keratitis,UMLS ID:C0000880,,,,,Acanthamoeba keratitis,MONDO:0005629,Acanthamoeba Keratitis,MeSH ID:D015823,,,, +BMGC_DS00010,BMG_DS000010,Acanthosis Nigricans,UMLS ID:C0000889,,,,,acanthosis nigricans,MONDO:0007035,Acanthosis Nigricans,MeSH ID:D000052,acanthosis nigricans,DOID:3138,, +BMGC_DS00011,BMG_DS000011,,UMLS ID:C0001075,,,,,achlorhydria,MONDO:0043465,,,,,, +BMGC_DS00012,BMG_DS000012,,UMLS ID:C0001079,,,,,achondrogenesis,MONDO:0019648,,,,,, +BMGC_DS00013,BMG_DS000013,,UMLS ID:C0001080,,,,,Achondroplasia,MONDO:0007037,,,achondroplasia,DOID:4480,,OMIM ID:100800 +BMGC_DS00014,BMG_DS000014,,UMLS ID:C0001122,,,,,acidosis disorder,MONDO:0006022,,,,,, +BMGC_DS00015,BMG_DS000015,"Acidosis, Lactic",UMLS ID:C0001125,,,,,acquired lactic acidosis | lactic acidosis,MONDO:0006040;MONDO:0024306,"Acidosis, Lactic",MeSH ID:D000140,lactic acidosis,DOID:3650,, +BMGC_DS00016,BMG_DS000016,Renal tubular acidosis,UMLS ID:C0001126,Renal tubular acidosis | Renal tubular acidosis (disorder) | RTA - Renal tubular acidosis | Renotubular acidaemia | Renotubular acidemia,SNOMEDCT ID:1776003,,,renal tubular acidosis,MONDO:0001909,,,renal tubular acidosis,DOID:14219,,OMIM ID:MTHU006717 +BMGC_DS00017,BMG_DS000017,"Acidosis, Respiratory",UMLS ID:C0001127,,,,,,,"Acidosis, Respiratory",MeSH ID:D000142,,,, +BMGC_DS00018,BMG_DS000018,Acinetobacter Infections,UMLS ID:C0001139,,,,,Acinetobacter infectious disease,MONDO:0006635,Acinetobacter Infections,MeSH ID:D000151,,,, +BMGC_DS00019,BMG_DS000020,Acne Vulgaris,UMLS ID:C0001144,,,,,,,Acne Vulgaris,MeSH ID:D000152,,,, +BMGC_DS00020,BMG_DS000022,Vestibulocochlear Nerve Diseases,UMLS ID:C0001163,,,,,vestibulocochlear nerve disorder,MONDO:0001563,Vestibulocochlear Nerve Diseases,MeSH ID:D000160,vestibulocochlear nerve disease,DOID:12657,, +BMGC_DS00021,BMG_DS000024,Acquired Immunodeficiency Syndrome,UMLS ID:C0001175,,,,,AIDS,MONDO:0012268,Acquired Immunodeficiency Syndrome,MeSH ID:D000163,acquired immunodeficiency syndrome,DOID:635,, +BMGC_DS00022,BMG_DS000025,,UMLS ID:C0001193,,,,,Apert syndrome,MONDO:0007041,,,,,,OMIM ID:101200 +BMGC_DS00023,BMG_DS000026,Acrodermatitis,UMLS ID:C0001197,Acrodermatitis | Acrodermatitis (disorder),SNOMEDCT ID:8197001,,,acrodermatitis,MONDO:0006523,Acrodermatitis,MeSH ID:D000169,acrodermatitis,DOID:2722,, +BMGC_DS00024,BMG_DS000028,Acromegaly,UMLS ID:C0001206,"Acromegaly | Growth hormone hypersecretion syndrome | STH hypersecretion syndrome | Marie disease | Anterior pituitary adenoma syndrome | Acromegalia | Acromegaly (disorder) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) | Gigantism and acromegaly | Anterior pituitary hyperfunction | Acromegaly and gigantism | Acromegaly | Gigantism | Pituitary hyperfunction (ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | Gigantism and acromegaly | Acromegaly and gigantism | Acromegaly | Gigantism | Pituitary hyperfunction (ant.) | Anterior pituitary hyperfunction | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder)",SNOMEDCT ID:74107003 | SNOMEDCT ID:267480001 | SNOMEDCT ID:154698000,,,acromegaly,MONDO:0019933,Acromegaly,MeSH ID:D000172,acromegaly,DOID:2449,,OMIM ID:MTHU016146 +BMGC_DS00025,BMG_DS000029,Hypersomatotropic gigantism,UMLS ID:C0001207,Hypersomatotropic gigantism | Acromegalic gigantism | Pituitary gigantism | Launois syndrome | Hypersomatotropic gigantism (disorder),SNOMEDCT ID:86073008,,,,,,,,,, +BMGC_DS00026,BMG_DS000030,"ACTH Syndrome, Ectopic",UMLS ID:C0001231,,,,,ectopic ACTH secretion syndrome,MONDO:0043472,"ACTH Syndrome, Ectopic",MeSH ID:D000182,,,, +BMGC_DS00027,BMG_DS000034,Actinomycosis,UMLS ID:C0001261,Actinomycotic infection | Actinomycosis | Actinomycotic infection (disorder) | Actinomycosis | Actinomycosis (disorder) | (Actinomycosis (& [infections]) or (erythrasma) | Actinomycosis | Erythrasma | Actinomycotic infections | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | (Actinomycosis (& [infections]) or (erythrasma) | Erythrasma | Actinomycotic infections | Actinomycosis | (Actinomycosis (& [infections]) or (erythrasma) (disorder),SNOMEDCT ID:11817007 | SNOMEDCT ID:50508009 | SNOMEDCT ID:154314007 | SNOMEDCT ID:266185008,,,actinomycosis,MONDO:0005631,Actinomycosis,MeSH ID:D000196,actinomycosis,DOID:8478,ICD10 ID:A42, +BMGC_DS00028,BMG_DS000035,Abdominal actinomycosis,UMLS ID:C0001263,Abdominal actinomycosis | Ray fungus disease of the intestines | Abdominal actinomycosis (disorder),SNOMEDCT ID:43894001,Abdominal actinomycosis,ICD11 ID:1C10.1,,,,,,,ICD10 ID:A42.1, +BMGC_DS00029,BMG_DS000036,Cervicofacial actinomycosis,UMLS ID:C0001264,Cervicofacial actinomycosis | Cervicofacial actinomycosis (disorder),SNOMEDCT ID:23014006,Cervicofacial actinomycosis,ICD11 ID:1C10.2,cervicofacial actinomycosis,MONDO:0005699,,,,,ICD10 ID:A42.2, +BMGC_DS00030,BMG_DS000039,Acute alcoholic liver disease,UMLS ID:C0001306,Acute alcoholic liver disease | Acute alcoholic hepatitis | Acute alcoholic liver disease (disorder),SNOMEDCT ID:9953008,,,,,,,alcoholic hepatitis,DOID:12351,, +BMGC_DS00031,BMG_DS000040,Acute and subacute liver necrosis (disorder),UMLS ID:C0001308,Acute and subacute liver necrosis | Acute and subacute liver necrosis (disorder),SNOMEDCT ID:197268000,,,,,,,hepatitis,DOID:2237,, +BMGC_DS00032,BMG_DS000041,Acute atopic conjunctivitis,UMLS ID:C0001309,Acute atopic conjunctivitis | Acute atopic conjunctivitis (disorder) | Acute atopic conjunctivitis | Angelucci's syndrome | Critical allergic conjunctivitis syndrome | Acute atopic conjunctivitis (disorder) | Acute allergic conjunctivitis,SNOMEDCT ID:193863004 | SNOMEDCT ID:67678004,"Papillary conjunctivitis, unspecified",ICD11 ID:9A60.0Z,Angelucci syndrome,MONDO:0001224,,,Angelucci's syndrome,DOID:11203,ICD10 ID:H10.1, +BMGC_DS00033,BMG_DS000043,Acute Disease,UMLS ID:C0001314,,,,,acute disease,MONDO:0020683,Acute Disease,MeSH ID:D000208,,,, +BMGC_DS00034,BMG_DS000044,Acute laryngitis,UMLS ID:C0001327,Acute laryngitis | Acute laryngitis (disorder),SNOMEDCT ID:155506009 | SNOMEDCT ID:6655004,Acute laryngitis,ICD11 ID:CA05.0,acute laryngitis,MONDO:0004777,,,acute laryngitis,DOID:9396,ICD10 ID:J04.0, +BMGC_DS00035,BMG_DS000045,Herpetic Acute Necrotizing Encephalitis,UMLS ID:C0001338,,,,,,,"Encephalitis, Herpes Simplex",MeSH ID:D020803,,,, +BMGC_DS00036,BMG_DS000046,"Pancreatitis, Acute",UMLS ID:C0001339,,,,,acute pancreatitis,MONDO:0006515,Pancreatitis,MeSH ID:D010195,acute pancreatitis,DOID:2913,, +BMGC_DS00037,BMG_DS000047,Acute periodontitis,UMLS ID:C0001342,Acute periodontitis | Acute pericementitis | Acute periodontitis (disorder) | Acute periodontitis | Acute periodontitis (disorder),SNOMEDCT ID:21638000 | SNOMEDCT ID:196361004 | SNOMEDCT ID:155646007,,,acute pericementitis,MONDO:0001028,,,acute pericementitis,DOID:10423,, +BMGC_DS00038,BMG_DS000048,Acute pharyngitis,UMLS ID:C0001344,Throat: [acute pharyngitis] or [sore NOS (& viral)] or [infection] | Throat infection - pharyngitis | Sore throat NOS | Viral sore throat NOS | Acute pharyngitis | Throat: [acute pharyngitis] or [sore NOS (& viral)] or [infection] (disorder) | Acute pharyngitis | Pharyngitis - acute | Throat infection NOS | Sore throat | Throat: [acute pharyngitis] or [infection NOS] or [sore] | Throat: [acute pharyngitis] or [infection NOS] or [sore] (disorder) | Acute pharyngitis | Acute pharyngitis (disorder) | Sore throat | Acute pharyngitis | Pharyngitis - acute | Throat infection NOS | Throat: [acute pharyngitis] or [infection NOS] or [sore] | Throat: [acute pharyngitis] or [infection NOS] or [sore] (disorder),SNOMEDCT ID:195654001 | SNOMEDCT ID:155502006 | SNOMEDCT ID:27321001 | SNOMEDCT ID:266379007 | SNOMEDCT ID:363746003,,,acute pharyngitis,MONDO:0020600,,,pharyngitis,DOID:2275,ICD10 ID:J02, +BMGC_DS00039,BMG_DS000049,Acute thyroiditis,UMLS ID:C0001360,Acute thyroiditis | Acute thyroiditis (disorder),SNOMEDCT ID:154665005 | SNOMEDCT ID:190293001,Acute thyroiditis,ICD11 ID:5A03.0,acute thyroiditis,MONDO:0001949,,,acute thyroiditis,DOID:14353,ICD10 ID:E06.0, +BMGC_DS00040,BMG_DS000051,Acute vascular insufficiency of intestine (disorder),UMLS ID:C0001363,Acute vascular insufficiency of intestine | Acute intestinal ischemic syndrome | Acute intestinal vascular insufficiency | Acute intestinal ischemia | Acute mesenteric ischemia | AMI - Acute mesenteric ischemia | Acute intestinal ischaemia | Acute mesenteric ischaemia | AMI - Acute mesenteric ischaemia | Acute intestinal ischaemic syndrome | Acute vascular insufficiency of intestine (disorder),SNOMEDCT ID:91489000,,,acute intestinal ischemia,MONDO:0004613,,,acute vascular insufficiency of intestine,DOID:8590,, +BMGC_DS00041,BMG_DS000053,Adams-Stokes Syndrome,UMLS ID:C0001396,,,,,Adams-Stokes syndrome,MONDO:0043475,Adams-Stokes Syndrome,MeSH ID:D000219,,,, +BMGC_DS00042,BMG_DS000054,Addison Disease,UMLS ID:C0001403,,,,,chronic primary adrenal insufficiency,MONDO:0015129,Addison Disease,MeSH ID:D000224,Addison's disease,DOID:13774,,OMIM ID:240200 +BMGC_DS00043,BMG_DS000055,,UMLS ID:C0001418,,,,,adenocarcinoma,MONDO:0004970,,,adenocarcinoma,DOID:299,, +BMGC_DS00044,BMG_DS000056,,UMLS ID:C0001420,,,,,papillary adenocarcinoma,MONDO:0002512,,,papillary adenocarcinoma,DOID:3112,, +BMGC_DS00045,BMG_DS000057,,UMLS ID:C0001422,,,,,adenofibroma,MONDO:0006071,,,adenofibroma,DOID:2683,, +BMGC_DS00046,BMG_DS000060,,UMLS ID:C0001430,,,,,adenoma,MONDO:0004972,,,adenoma,DOID:657,, +BMGC_DS00047,BMG_DS000061,,UMLS ID:C0001431,,,,,pituitary gland basophil adenoma,MONDO:0006673,,,basophil adenoma,DOID:4542,, +BMGC_DS00048,BMG_DS000062,,UMLS ID:C0001432,,,,,chromophobe adenoma,MONDO:0006701,,,chromophobe adenoma,DOID:3828,, +BMGC_DS00049,BMG_DS000063,,UMLS ID:C0001433,,,,,pituitary gland acidophil adenoma,MONDO:0006634,,,acidophil adenoma,DOID:5392,, +BMGC_DS00050,BMG_DS000064,,UMLS ID:C0001442,,,,,adenosarcoma,MONDO:0005636,,,adenosarcoma,DOID:1974,, +BMGC_DS00051,BMG_DS000065,,UMLS ID:C0001485,,,,,,,,,disease by infectious agent,DOID:0050117,, +BMGC_DS00052,BMG_DS000068,Adie Syndrome,UMLS ID:C0001519,,,,,Holmes-Adie syndrome,MONDO:0018690,Adie Syndrome,MeSH ID:D000270,Adie syndrome,DOID:11549,,OMIM ID:103100 +BMGC_DS00053,BMG_DS000069,Adiposis Dolorosa,UMLS ID:C0001529,,,,,adiposis dolorosa,MONDO:0007070,Adiposis Dolorosa,MeSH ID:D000274,adiposis dolorosa,DOID:3928,,OMIM ID:103200 +BMGC_DS00054,BMG_DS000073,Adrenal Cortex Diseases,UMLS ID:C0001614,,,,,adrenal cortex disorder,MONDO:0002816,Adrenal Cortex Diseases,MeSH ID:D000303,adrenal cortex disease,DOID:3952,, +BMGC_DS00055,BMG_DS000074,,UMLS ID:C0001618,,,,,adrenal cortex neoplasm,MONDO:0036591,,,adrenal cortex cancer,DOID:660,, +BMGC_DS00056,BMG_DS000075,Adrenal Gland Diseases,UMLS ID:C0001621,,,,,,,Adrenal Gland Diseases,MeSH ID:D000307,adrenal gland disease,DOID:9553,, +BMGC_DS00057,BMG_DS000076,Adrenal Gland Hyperfunction,UMLS ID:C0001622,,,,,adrenal gland hyperfunction,MONDO:0006640,Adrenocortical Hyperfunction,MeSH ID:D000308,adrenal gland hyperfunction,DOID:3947,, +BMGC_DS00058,BMG_DS000077,,UMLS ID:C0001624,,,,,adrenal gland neoplasm,MONDO:0021227,,,adrenal gland cancer,DOID:3953,, +BMGC_DS00059,BMG_DS000078,Congenital adrenal hyperplasia,UMLS ID:C0001627,Congenital adrenal hyperplasia | CAH - Congenital adrenal hyperplasia | Congenital adrenal cortical hyperplasia | Congenital adrenal hyperplasia (disorder) | Congenital adrenogenital syndrome | Congenital adrenal cortical hyperplasia | Congenital adrenal cortical hyperplasia (disorder),SNOMEDCT ID:237751000 | SNOMEDCT ID:27037004,Congenital adrenal hyperplasia,ICD11 ID:5A71.01,congenital adrenal hyperplasia,MONDO:0018479,,,,,ICD10 ID:E25.0,OMIM ID:MTHU014663 +BMGC_DS00060,BMG_DS000081,Afferent Loop Syndrome,UMLS ID:C0001727,,,,,afferent loop syndrome,MONDO:0006641,Afferent Loop Syndrome,MeSH ID:D000343,afferent loop syndrome,DOID:8438,, +BMGC_DS00061,BMG_DS000082,Afibrinogenemia,UMLS ID:C0001733,Afibrinogenaemia | Afibrinogenemia | Afibrinogenemia (disorder),SNOMEDCT ID:278504009,,,,,Afibrinogenemia,MeSH ID:D000347,congenital afibrinogenemia,DOID:2236,, +BMGC_DS00062,BMG_DS000085,Agammaglobulinemia,UMLS ID:C0001768,Agammaglobulinemia | Agammaglobulinaemia | Agammaglobulinemia (finding) | (Deficiencies of humoral immunity) or (agammaglobulinemia) | Deficiencies of humoral immunity | Agammaglobulinemia | Agammaglobulinaemia | (Deficiencies of humoral immunity) or (agammaglobulinaemia) | (Deficiencies of humoral immunity) or (agammaglobulinemia) (disorder) | Agammaglobulinemia (disorder) | Agammaglobulinemia | Agammaglobulinaemia | Agammaglobulinemia &/or hypo-gammaglobulinemia | A/Hypo-gammaglobulinaemia | Agammaglobulinaemia | Agammaglobulinaemia &/or hypo-gammaglobulinaemia | Agammaglobulinemia | Agammaglobulinaemia &/or hypo-gammaglobulinaemia (disorder),SNOMEDCT ID:119249001 | SNOMEDCT ID:190977001 | SNOMEDCT ID:81282009 | SNOMEDCT ID:267512002,,,agammaglobulinemia,MONDO:0015977,Agammaglobulinemia,MeSH ID:D000361,agammaglobulinemia,DOID:2583,,OMIM ID:MTHU008328 +BMGC_DS00063,BMG_DS000086,"Osteoporosis, Age-Related",UMLS ID:C0001787,,,,,,,Osteoporosis,MeSH ID:D010024,,,, +BMGC_DS00064,BMG_DS000087,,UMLS ID:C0001815,,,,,primary myelofibrosis,MONDO:0009692,,,myelofibrosis,DOID:4971,,OMIM ID:254450 +BMGC_DS00065,BMG_DS000088,,UMLS ID:C0001816,,,,,agnosia,MONDO:0005638,,,agnosia,DOID:4090,, +BMGC_DS00066,BMG_DS000089,,UMLS ID:C0001818,,,,,agoraphobia,MONDO:0003709,,,agoraphobia,DOID:593,, +BMGC_DS00067,BMG_DS000090,Agranulocytosis,UMLS ID:C0001824,Agranulocytosis | Agranulocytosis (disorder) | Schultz disease | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) | Kostmann's syndrome | Neutropenia | Agranulocytosis | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) (disorder) | Agranulocytosis | Agranulocytosis (disorder) | Agranulocytosis | Agranulocytosis (finding),SNOMEDCT ID:17182001 | SNOMEDCT ID:191336001 | SNOMEDCT ID:142919000 | SNOMEDCT ID:165508008 | SNOMEDCT ID:154830007,,,agranulocytosis,MONDO:0001609,Agranulocytosis,MeSH ID:D000380,agranulocytosis,DOID:12987,,OMIM ID:MTHU074770 +BMGC_DS00068,BMG_DS000092,Agricultural Workers' Diseases,UMLS ID:C0001828,,,,,,,Agricultural Workers' Diseases,MeSH ID:D000382,,,, +BMGC_DS00069,BMG_DS000093,AIDS Dementia Complex,UMLS ID:C0001849,,,,,AIDS dementia complex,MONDO:0020689,AIDS Dementia Complex,MeSH ID:D015526,,,, +BMGC_DS00070,BMG_DS000095,Ainhum,UMLS ID:C0001860,Ainhum | Dactylolysis spontanea | Ainhum (disorder) | Ainhum - dactylolysis spontanea | Fibrous bands | Fibrous bands (morphologic abnormality),SNOMEDCT ID:38528001 | SNOMEDCT ID:51404004,Other specified disorders of cutaneous connective tissue,ICD11 ID:EE7Y,ainhum,MONDO:0007074,Ainhum,MeSH ID:D000387,ainhum,DOID:11329,ICD10 ID:L94.6,OMIM ID:103400 +BMGC_DS00071,BMG_DS000096,Airsickness,UMLS ID:C0001882,,,Motion sickness,ICD11 ID:NF08.3,,,Motion Sickness,MeSH ID:D009041,,,ICD10 ID:T75.3, +BMGC_DS00072,BMG_DS000097,Airway Obstruction,UMLS ID:C0001883,,,,,obstructive lung disease,MONDO:0002267,Airway Obstruction,MeSH ID:D000402,,,, +BMGC_DS00073,BMG_DS000098,Akinetic Mutism,UMLS ID:C0001889,,,,,akinetic mutism,MONDO:0005640,Akinetic Mutism,MeSH ID:D000405,akinetic mutism,DOID:4267,, +BMGC_DS00074,BMG_DS000099,Akinetic Petit Mal,UMLS ID:C0001890,,,,,,,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy,DOID:0070309,, +BMGC_DS00075,BMG_DS000100,Variola Minor,UMLS ID:C0001906,,,,,variola minor infection,MONDO:0004720,Smallpox,MeSH ID:D012899,variola minor,DOID:9153,, +BMGC_DS00076,BMG_DS000101,Albinism,UMLS ID:C0001916,Albinism | Cystinuria | Glucose-6-phosphate dehydrogenase deficiency | Glycogen storage disease | Glucose-6-phosph.dehydr.defic. | Von Gierke's disease | von Gierke disease | Other amino-acid/carbohydrate | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) | Galactosaemia | Galactosemia | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) | Albinism (& [Klein-Waardenberg's syndrome]) | Klein-Waardenberg's syndrome | Albino | Albinism | Albinismus | Albinism (& [Klein-Waardenberg's syndrome]) (disorder) | Albinism | Albinismus | Albinism (disorder) | Cystinuria | Glucose-6-phosphate dehydrogenase deficiency | Albinism | Other amino-acid/carbohydrate | Glycogen storage disease | von Gierke disease | Von Gierke's disease | Glucose-6-phosph.dehydr.defic. | Galactosaemia | Galactosemia | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) | Disorder of amino acid metabolism: [other aromatic] or [albinism] | Other disturbances of aromatic amino-acid metabolism | Albinism | Disorder of amino acid metabolism: [other aromatic] or [albinism] (disorder),SNOMEDCT ID:154738008 | SNOMEDCT ID:190695000 | SNOMEDCT ID:15890002 | SNOMEDCT ID:267498002 | SNOMEDCT ID:190688009,"Inborn errors of amino acid or other organic acid metabolism, unspecified",ICD11 ID:5C50.Z,albinism,MONDO:0043209,Albinism,MeSH ID:D000417,Griscelli syndrome | Waardenburg syndrome type 3 | ocular albinism with sensorineural deafness,DOID:0060831;DOID:0090100;DOID:0110949,ICD10 ID:E70.3,OMIM ID:MTHU037234 +BMGC_DS00077,BMG_DS000103,Alcohol Withdrawal Delirium,UMLS ID:C0001957,,,,,alcohol withdrawal delirium,MONDO:0006642,Alcohol Withdrawal Delirium,MeSH ID:D000430,,,, +BMGC_DS00078,BMG_DS000104,,UMLS ID:C0001973,,,,,alcohol dependence,MONDO:0007079,,,,,,OMIM ID:103780 +BMGC_DS00079,BMG_DS000105,Aleutian Mink Disease,UMLS ID:C0002016,,,,,"aleutian mink disease | aleutian mink disease, human",MONDO:0005641;MONDO:1010029,Aleutian Mink Disease,MeSH ID:D000453,aleutian mink disease,DOID:2934,, +BMGC_DS00080,BMG_DS000106,,UMLS ID:C0002018,,,,,alexia,MONDO:0001712,,,alexia,DOID:13417,, +BMGC_DS00081,BMG_DS000107,,UMLS ID:C0002020,,,,,alexithymia,MONDO:0000661,,,,,, +BMGC_DS00082,BMG_DS000108,Alkalosis,UMLS ID:C0002063,Alkalosis | Alkalosis (disorder),SNOMEDCT ID:154758009 | SNOMEDCT ID:21420006,Alkalosis,ICD11 ID:5C74,,,Alkalosis,MeSH ID:D000471,,,ICD10 ID:E87.3,OMIM ID:MTHU054076 +BMGC_DS00083,BMG_DS000109,Alkaptonuria,UMLS ID:C0002066,"Alkaptonuria | Alkaptonuria (disorder) | Alkaptonuria | Homogentisic acid defect | Homogentisic acid defect (& alkaptonuria) | Homogentisic acid defect (& alkaptonuria) (disorder) | Homogentisicaciduria | Deficiency of homogentisate 1,2-dioxygenase | Deficiency of homogentisate oxygenase | Homogentisic acid oxidase deficiency | Deficiency of homogentisicase | Homogentisate 1,2-dioxygenase deficiency | Homogentisate 1,2-dioxygenase deficiency (disorder) | Hereditary ochronosis | Alkaptonuria | HGD-gene related homogentisate 1,2-dioxygenase deficiency | Alkaptonuria | Alkaptonuria (finding)",SNOMEDCT ID:24250001 | SNOMEDCT ID:190689001 | SNOMEDCT ID:360378009 | SNOMEDCT ID:360381004,,,alkaptonuria,MONDO:0008753,Alkaptonuria,MeSH ID:D000474,alkaptonuria,DOID:9270,ICD10 ID:E70.29,OMIM ID:203500 +BMGC_DS00084,BMG_DS000111,Atopic rhinitis,UMLS ID:C0002103,Atopic rhinitis | Atopic rhinitis (disorder),SNOMEDCT ID:38103000,,,,,,,allergic rhinitis,DOID:4481,, +BMGC_DS00085,BMG_DS000114,Alopecia,UMLS ID:C0002170,Alopecia | Baldness | Bald | Hair loss disorder | Alopecia (disorder) | Alopecia | Hair loss disorder | Baldness | Bald | Alopecia (disorder) | Alopecia | Alopecia (disorder) | (Alopecia) or (thinning of hair) | Alopecia | Thinning of hair | (Alopecia) or (thinning of hair) (disorder),SNOMEDCT ID:56317004 | SNOMEDCT ID:270504008 | SNOMEDCT ID:156408004 | SNOMEDCT ID:201129005,,,alopecia,MONDO:0004907,Alopecia,MeSH ID:D000505,alopecia,DOID:987,,OMIM ID:MTHU036686 +BMGC_DS00086,BMG_DS000115,Alopecia Areata,UMLS ID:C0002171,,,,,alopecia areata,MONDO:0005340,Alopecia Areata,MeSH ID:D000506,alopecia areata,DOID:986,, +BMGC_DS00087,BMG_DS000116,"Mucinosis, Follicular",UMLS ID:C0002173,,,,,alopecia mucinosa,MONDO:0006551,"Mucinosis, Follicular",MeSH ID:D000507,follicular mucinosis,DOID:9905,, +BMGC_DS00088,BMG_DS000123,alpha-Thalassemia,UMLS ID:C0002312,,,,,alpha thalassemia spectrum,MONDO:0011399,alpha-Thalassemia,MeSH ID:D017085,alpha thalassemia,DOID:1099,,OMIM ID:604131 +BMGC_DS00089,BMG_DS000124,Altitude Sickness,UMLS ID:C0002351,,,,,altitude sickness,MONDO:0006625,Altitude Sickness,MeSH ID:D000532,,,, +BMGC_DS00090,BMG_DS000125,Alveolar Bone Loss,UMLS ID:C0002382,,,,,,,Alveolar Bone Loss,MeSH ID:D016301,,,, +BMGC_DS00091,BMG_DS000126,Extrinsic allergic alveolitis,UMLS ID:C0002390,"Extrinsic allergic alveolitis | Extrinsic allergic bronchiolo-alveolitis | Allergic alveolitis | Allergic pneumonitis | Allergic interstitial pneumonitis | Hypersensitivity pneumonitis | EAA - Extrinsic allergic alveolitis | Bagpipe lung | Hypersensitivity pneumonitis (disorder) | (Extrinsic allergic alveolitis) or (farmers' lung) or (pneumonitis, allergic NOS) | Extrinsic allergic alveolitis | Farmers' lung | Alveolitis - allergic | Pneumonitis, allergic NOS | Farmers lung | Allergic alveolitis | Extrinsic allergic alveolitis | Farmers lung | Alveolitis - allergic | Allergic alveolitis | Pneumonitis, allergic NOS | Farmers' lung | (Extrinsic allergic alveolitis) or (farmers' lung) or (pneumonitis, allergic NOS)",SNOMEDCT ID:37471005 | SNOMEDCT ID:266399001 | SNOMEDCT ID:155581001,,,hypersensitivity pneumonitis,MONDO:0017853,,,extrinsic allergic alveolitis,DOID:841,, +BMGC_DS00092,BMG_DS000127,Alzheimer's Disease,UMLS ID:C0002395,,,,,Alzheimer disease,MONDO:0004975,Alzheimer Disease,MeSH ID:D000544,Alzheimer's disease,DOID:10652,, +BMGC_DS00093,BMG_DS000128,Amblyopia,UMLS ID:C0002418,(Visual disturbances NOS) or (amblyopia) or (blurred vision) | Visual disturbances NOS | Amblyopia | Blurred vision | (Visual disturbances NOS) or (amblyopia) or (blurred vision) (disorder) | Amblyopia | Congenital amblyopia | Amblyopic | Functional amblyopia | Amblyopia (disorder) | Amblyopia (disorder) | Amblyopia | Amblyopic,SNOMEDCT ID:155145007 | SNOMEDCT ID:267726008 | SNOMEDCT ID:111517004 | SNOMEDCT ID:387742006,,,amblyopia,MONDO:0001020,Amblyopia,MeSH ID:D000550,amblyopia,DOID:10376,,OMIM ID:MTHU002370 +BMGC_DS00094,BMG_DS000129,Tobacco amblyopia,UMLS ID:C0002419,Tobacco amblyopia | Tobacco amblyopia (disorder),SNOMEDCT ID:30483005,,,,,,,,,, +BMGC_DS00095,BMG_DS000130,Amebiasis,UMLS ID:C0002438,Amebiasis | Amebic dysentery | Amoebic dysentery | Amoebiasis | Amebiasis (disorder) | Amebic infection | Amoebic infection | Amebic infection (disorder) | Amoebiasis | Amebiasis | Infection caused by Entamoeba histolytica | Infection caused by Entamoeba histolytica (disorder) | Entamoeba histolytica infection | Amebic dysentery (disorder) | Amoebic dysentery | Amebic dysentery | Amoebiasis | Amebiasis | Amoebiasis (disorder),SNOMEDCT ID:111909004 | SNOMEDCT ID:111910009 | SNOMEDCT ID:388759003 | SNOMEDCT ID:387754006 | SNOMEDCT ID:154274000,,,amebiasis,MONDO:0005644,Amebiasis,MeSH ID:D000562,amebiasis,DOID:9181,ICD10 ID:A06, +BMGC_DS00096,BMG_DS000134,,UMLS ID:C0002448,,,,,ameloblastoma,MONDO:0017795,,,,,, +BMGC_DS00097,BMG_DS000135,,UMLS ID:C0002452,,,,,amelogenesis imperfecta,MONDO:0019507,,,amelogenesis imperfecta,DOID:2187,, +BMGC_DS00098,BMG_DS000136,,UMLS ID:C0002453,,,,,amenorrhea,MONDO:0001836,,,amenorrhea,DOID:13938,, +BMGC_DS00099,BMG_DS000137,"Amino Acid Metabolism, Inborn Errors",UMLS ID:C0002514,,,,,,,"Amino Acid Metabolism, Inborn Errors",MeSH ID:D000592,amino acid metabolic disorder,DOID:9252,, +BMGC_DS00100,BMG_DS000138,Renal Aminoacidurias,UMLS ID:C0002534,,,,,renal aminoaciduria,MONDO:0006944,Renal Aminoacidurias,MeSH ID:D000608,,,, +BMGC_DS00101,BMG_DS000139,,UMLS ID:C0002622,,,,,,,,,amnestic disorder,DOID:10914,, +BMGC_DS00102,BMG_DS000140,,UMLS ID:C0002624,,,,,retrograde amnesia,MONDO:0003040,,,retrograde amnesia,DOID:4543,, +BMGC_DS00103,BMG_DS000141,,UMLS ID:C0002625,,,,,amnestic disorder,MONDO:0001152,,,amnestic disorder,DOID:10914,, +BMGC_DS00104,BMG_DS000142,Infection of amniotic cavity,UMLS ID:C0002631,Infection of amniotic cavity | Amnionitis | Infection of amniotic cavity (disorder) | Amniotic cavity infection,SNOMEDCT ID:10573002,,,amnionitis,MONDO:0020710,,,,,, +BMGC_DS00105,BMG_DS000145,Amyloidosis,UMLS ID:C0002726,Amyloidosis | Amyloidosis (disorder),SNOMEDCT ID:17602002 | SNOMEDCT ID:154769007,,,amyloidosis,MONDO:0019065,Amyloidosis,MeSH ID:D000686,amyloidosis,DOID:9120,ICD10 ID:E85,OMIM ID:MTHU076637 +BMGC_DS00106,BMG_DS000146,Oppenheim's Disease,UMLS ID:C0002735,,,,,amyotonia congenita,MONDO:0056822,Neuromuscular Diseases,MeSH ID:D009468,,,,OMIM ID:205000 +BMGC_DS00107,BMG_DS000147,Amyotrophic Lateral Sclerosis,UMLS ID:C0002736,,,,,amyotrophic lateral sclerosis,MONDO:0004976,Amyotrophic Lateral Sclerosis,MeSH ID:D000690,amyotrophic lateral sclerosis,DOID:332,, +BMGC_DS00108,BMG_DS000148,,UMLS ID:C0002757,,,,,anal gland neoplasm,MONDO:0003045,,,anal gland neoplasm,DOID:4550,, +BMGC_DS00109,BMG_DS000149,Congenital Pain Insensitivity,UMLS ID:C0002768,,,,,,,"Pain Insensitivity, Congenital",MeSH ID:D000699,hereditary sensory and autonomic neuropathy type 5,DOID:0070145,, +BMGC_DS00110,BMG_DS000152,Ancylostomiasis,UMLS ID:C0002831,Infection by Uncinaria | Uncinariasis | Uncinariosis | Ancylostomiasis | Ancylostomiasis due to Ancylostoma duodenale | Ancylostomosis | Hookworm infection | Infection by Uncinaria (disorder) | Ancylostomiasis | Ancylostomiasis (disorder),SNOMEDCT ID:85807000 | SNOMEDCT ID:63479002,Hookworm diseases,ICD11 ID:1F68,ancylostomiasis,MONDO:0005645,Ancylostomiasis,MeSH ID:D000724,ancylostomiasis,DOID:12841,ICD10 ID:B76.0, +BMGC_DS00111,BMG_DS000153,Anemia,UMLS ID:C0002871,Anemia | Anaemia | Absolute anemia | Absolute anaemia | Anemia (disorder) | Anemia | Anaemia | Anemia (disorder) | Anemia | Anaemia | Anaemia (disorder),SNOMEDCT ID:271737000 | SNOMEDCT ID:64593003 | SNOMEDCT ID:154786001,,,anemia,MONDO:0002280,Anemia,MeSH ID:D000740,anemia,DOID:2355,,OMIM ID:MTHU002606 +BMGC_DS00112,BMG_DS000155,Aplastic Anemia,UMLS ID:C0002874,,,,,aplastic anemia,MONDO:0015909,"Anemia, Aplastic",MeSH ID:D000741,aplastic anemia,DOID:12449,, +BMGC_DS00113,BMG_DS000156,Cooley's anemia,UMLS ID:C0002875,Homozygous beta thalassemia | Cooley's anemia | Mediterranean anemia | Beta thalassaemia major | Cooley's anaemia | Homozygous beta thalassaemia | Homozygous beta thalassemia (disorder),SNOMEDCT ID:26682008,Beta thalassaemia,ICD11 ID:3A50.2,beta-thalassemia major,MONDO:0016486,,,,,ICD10 ID:D56.1, +BMGC_DS00114,BMG_DS000157,Congenital dyserythropoietic anemia,UMLS ID:C0002876,Congenital anemia: [dyshematopoietic] or [dyserythropoietic (& NEC)] | Congenital dyserythropoiesis NEC | Congenital dyserythropoietic anemia | Congenital dyshematopoietic anemia | Congenital dyserythropoietic anaemia | Congenital dyshaematopoietic anaemia | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] | Congenital anaemia: [dyshaematopoietic] or [dyserythropoietic (& NEC)] (disorder) | Congenital dyserythropoietic anemia | Congenital dyserythropoietic anaemia | Congenital dyserythropoietic anemia (disorder) | CDA - congenital dyserythropoietic anaemia | CDA - congenital dyserythropoietic anemia,SNOMEDCT ID:191272005 | SNOMEDCT ID:52951008,Congenital dyserythropoietic anaemia,ICD11 ID:3A73,congenital dyserythropoietic anemia,MONDO:0019403,,,congenital dyserythropoietic anemia,DOID:1338,ICD10 ID:D64.4,OMIM ID:MTHU074604 +BMGC_DS00115,BMG_DS000158,"Anemia, Hemolytic",UMLS ID:C0002878,,,,,hemolytic anemia,MONDO:0003664,"Anemia, Hemolytic",MeSH ID:D000743,hemolytic anemia,DOID:583,, +BMGC_DS00116,BMG_DS000159,"Anemia, Hemolytic, Acquired",UMLS ID:C0002879,,,,,,,"Anemia, Hemolytic",MeSH ID:D000743,,,, +BMGC_DS00117,BMG_DS000160,Autoimmune hemolytic anemia,UMLS ID:C0002880,Autoimmune hemolytic anemia | Neonatal isoerythrolysis | Hemolytic anemia due to antibody | Autoimmune haemolytic anaemia | AIHA - Autoimmune haemolytic anaemia | AIHA - Autoimmune hemolytic anemia | Haemolytic anaemia due to antibody | Autoimmune hemolytic anemia (disorder) | Autoimmune hemolytic anemia | Autoimmune haemolytic anaemia | Autoimmune haemolytic anaemia (disorder) | Autoimmune hemolytic anemia (disorder) | Autoimmune hemolytic anemia | Autoimmune haemolytic anaemia,SNOMEDCT ID:25121006 | SNOMEDCT ID:154803002 | SNOMEDCT ID:413603009,,,autoimmune hemolytic anemia,MONDO:0020108,,,autoimmune hemolytic anemia,DOID:718,,OMIM ID:MTHU002424 | OMIM ID:205700 +BMGC_DS00118,BMG_DS000161,"Anemia, Hemolytic, Congenital",UMLS ID:C0002881,,,,,familial hemolytic anemia,MONDO:0003689,"Anemia, Hemolytic, Congenital",MeSH ID:D000745,congenital hemolytic anemia,DOID:589,, +BMGC_DS00119,BMG_DS000162,"Anemia, Hemolytic, Congenital Nonspherocytic",UMLS ID:C0002882,,,,,congenital nonspherocytic hemolytic anemia,MONDO:0006506,"Anemia, Hemolytic, Congenital Nonspherocytic",MeSH ID:D000746,congenital nonspherocytic hemolytic anemia,DOID:2861,, +BMGC_DS00120,BMG_DS000163,"Anemia, Hemolytic, Idiopathic Acquired",UMLS ID:C0002883,,,,,,,"Anemia, Hemolytic, Autoimmune",MeSH ID:D000744,,,, +BMGC_DS00121,BMG_DS000164,Hypochromic anemia,UMLS ID:C0002884,Normocytic hypochromic anemia | Hypochromic anemia | Hypochromic anaemia | Normocytic hypochromic anaemia | Normocytic hypochromic anemia (disorder),SNOMEDCT ID:44452003,,,hypochromic anemia,MONDO:0001357,,,hypochromic anemia,DOID:11759,,OMIM ID:MTHU006440 +BMGC_DS00122,BMG_DS000165,"Anemia, Macrocytic",UMLS ID:C0002886,,,,,macrocytic anemia,MONDO:0002281,"Anemia, Macrocytic",MeSH ID:D000748,macrocytic anemia,DOID:2361,, +BMGC_DS00123,BMG_DS000166,"Anemia, Megaloblastic",UMLS ID:C0002888,,,,,megaloblastic anemia,MONDO:0001700,"Anemia, Megaloblastic",MeSH ID:D000749,megaloblastic anemia,DOID:13382,, +BMGC_DS00124,BMG_DS000167,"Anemia, Microangiopathic",UMLS ID:C0002889,,,,,,,"Anemia, Hemolytic",MeSH ID:D000743,,,, +BMGC_DS00125,BMG_DS000168,Leukoerythroblastic Anemia,UMLS ID:C0002890,,,,,myelophthisic anemia,MONDO:0005868,"Anemia, Myelophthisic",MeSH ID:D000750,myelophthisic anemia,DOID:2354,, +BMGC_DS00126,BMG_DS000169,"Anemia, Neonatal",UMLS ID:C0002891,,,,,neonatal anemia,MONDO:0001240,"Anemia, Neonatal",MeSH ID:D000751,neonatal anemia,DOID:11244,, +BMGC_DS00127,BMG_DS000170,"Anemia, Pernicious",UMLS ID:C0002892,,,,,pernicious anemia,MONDO:0008228,"Anemia, Pernicious",MeSH ID:D000752,pernicious anemia,DOID:13381,,OMIM ID:170900 +BMGC_DS00128,BMG_DS000172,"Anemia, Sickle Cell",UMLS ID:C0002895,,,,,sickle cell anemia,MONDO:0011382,"Anemia, Sickle Cell",MeSH ID:D000755,sickle cell anemia,DOID:10923,,OMIM ID:603903 +BMGC_DS00129,BMG_DS000173,Sideroblastic anemia,UMLS ID:C0002896,Sideroblastic anemia | Primary sideroblastic anemia | Refractory sideroblastic anemia | Sideroachrestic anemia | Primary sideroblastic anaemia | Sideroachrestic anaemia | Refractory sideroblastic anaemia | Sideroblastic anaemia | Sideroblastic anemia (disorder) | Sideroblastic anaemia | Sideroblastic anemia | Sideroblastic anaemia (disorder),SNOMEDCT ID:41841004 | SNOMEDCT ID:154810008,,,sideroblastic anemia,MONDO:0015194,,,sideroblastic anemia,DOID:8955,,OMIM ID:MTHU037698 +BMGC_DS00130,BMG_DS000174,"Anemia, Splenic",UMLS ID:C0002897,,,,,,,Hypersplenism,MeSH ID:D006971,,,, +BMGC_DS00131,BMG_DS000175,,UMLS ID:C0002902,,,,,anencephaly,MONDO:0000819,,,,,, +BMGC_DS00132,BMG_DS000176,,UMLS ID:C0002938,,,,,aneuploidy,MONDO:0700064,,,,,, +BMGC_DS00133,BMG_DS000177,,UMLS ID:C0002940,,,,,,,,,vascular disease,DOID:178,, +BMGC_DS00134,BMG_DS000178,Arterial Dissection,UMLS ID:C0002949,,,,,,,"Dissection, Blood Vessel",MeSH ID:D000094665,,,, +BMGC_DS00135,BMG_DS000181,"Angina Pectoris, Variant",UMLS ID:C0002963,,,,,Prinzmetal angina,MONDO:0006021,"Angina Pectoris, Variant",MeSH ID:D000788,Prinzmetal angina,DOID:0111151,, +BMGC_DS00136,BMG_DS000182,"Angina, Unstable",UMLS ID:C0002965,,,,,intermediate coronary syndrome,MONDO:0006805,"Angina, Unstable",MeSH ID:D000789,intermediate coronary syndrome,DOID:8805,, +BMGC_DS00137,BMG_DS000183,Angioid Streaks,UMLS ID:C0002982,,,,,angioid streaks,MONDO:0011782,Angioid Streaks,MeSH ID:D000793,angioid streaks,DOID:13401,,OMIM ID:607140 +BMGC_DS00138,BMG_DS000184,Angioid streaks of choroid,UMLS ID:C0002983,Angioid streaks of choroid | Angioid streaks of choroid (disorder),SNOMEDCT ID:86103006,,,angioid streaks of choroid,MONDO:0004882,,,angioid streaks of choroid,DOID:979,, +BMGC_DS00139,BMG_DS000185,,UMLS ID:C0002985,,,,,angiokeratoma,MONDO:0003143,,,angiokeratoma,DOID:479,, +BMGC_DS00140,BMG_DS000186,Fabry Disease,UMLS ID:C0002986,,,,,Fabry disease,MONDO:0010526,Fabry Disease,MeSH ID:D000795,Fabry disease,DOID:14499,,OMIM ID:301500 +BMGC_DS00141,BMG_DS000187,,UMLS ID:C0002989,,,,,skin epithelioid hemangioma,MONDO:0001939,,,skin epithelioid hemangioma,DOID:14308,, +BMGC_DS00142,BMG_DS000188,,UMLS ID:C0002991,,,,,cutaneous fibrous histiocytoma,MONDO:0006717,,,cutaneous fibrous histiocytoma,DOID:4418,, +BMGC_DS00143,BMG_DS000190,,UMLS ID:C0002994,,,,,angioedema,MONDO:0010481,,,angioedema,DOID:1558,, +BMGC_DS00144,BMG_DS000191,Anhidrosis,UMLS ID:C0003028,Anhidrosis | Anhidrosis (disorder) | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) | Oligohidrosis | Hypohidrosis | Anhidrosis | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) (disorder),SNOMEDCT ID:39659002 | SNOMEDCT ID:156414006 | SNOMEDCT ID:201189007,"Hypohidrosis, unspecified",ICD11 ID:EE01.Z,obsolete hypohidrosis | anhidrosis,MONDO:0006560;MONDO:0006527,Hypohidrosis,MeSH ID:D007007,anhidrosis,DOID:11156,ICD10 ID:L74.4,OMIM ID:MTHU001816 +BMGC_DS00145,BMG_DS000193,,UMLS ID:C0003076,,,,,aniridia,MONDO:0019172,,,aniridia,DOID:12271,, +BMGC_DS00146,BMG_DS000196,Anisometropia,UMLS ID:C0003081,Anisometropia | Anisometropia (disorder),SNOMEDCT ID:3289004,,,anisometropia,MONDO:0001478,Anisometropia,MeSH ID:D015858,anisometropia,DOID:12273,ICD10 ID:H52.31,OMIM ID:MTHU042450 +BMGC_DS00147,BMG_DS000197,,UMLS ID:C0003089,,,,,,,,,autoimmune disease,DOID:417,, +BMGC_DS00148,BMG_DS000198,,UMLS ID:C0003090,,,,,ankylosis,MONDO:0002257,,,ankylosis,DOID:227,, +BMGC_DS00149,BMG_DS000201,,UMLS ID:C0003113,,,,,nominal aphasia,MONDO:0003039,,,nominal aphasia,DOID:4541,, +BMGC_DS00150,BMG_DS000202,Anorexia,UMLS ID:C0003123,,,Anorexia,ICD11 ID:MG43.7,,,Anorexia,MeSH ID:D000855,,,ICD10 ID:R63.0,OMIM ID:MTHU006757 +BMGC_DS00151,BMG_DS000203,,UMLS ID:C0003125,,,,,anorexia nervosa,MONDO:0005351,,,anorexia nervosa,DOID:8689,, +BMGC_DS00152,BMG_DS000204,,UMLS ID:C0003126,,,,,anosmia,MONDO:0010528,,,,,, +BMGC_DS00153,BMG_DS000205,Anovulation,UMLS ID:C0003128,Anovulation | Anovulation (finding) | Ovulation absent,SNOMEDCT ID:34571000,,,anovulation,MONDO:0002775,Anovulation,MeSH ID:D000858,anovulation,DOID:3781,, +BMGC_DS00154,BMG_DS000206,Anterior Compartment Syndrome,UMLS ID:C0003152,,,,,anterior compartment of tibia syndrome,MONDO:0006648,Anterior Compartment Syndrome,MeSH ID:D000868,anterior compartment syndrome,DOID:3933,, +BMGC_DS00155,BMG_DS000207,Anthracosilicosis,UMLS ID:C0003164,Anthracosilicosis | Anthracosilicosis (disorder),SNOMEDCT ID:33548005,,,anthracosilicosis,MONDO:0006653,Anthracosilicosis,MeSH ID:D000874,anthracosilicosis,DOID:10324,ICD10 ID:J60, +BMGC_DS00156,BMG_DS000208,Anthracosis,UMLS ID:C0003165,Coal workers' pneumoconiosis | Coal pneumoconiosis | Colliers' lung | Colliers' anthracosis | Miners' lung | Melanedema | Anthracosis | Black lung disease | Coal workers' lung | Miners' asthma | Lung melanosis | Pneumomelanosis | Coal miners' lung | Coal miners' pneumoconiosis | Melanoedema | Coal workers' pneumoconiosis (disorder),SNOMEDCT ID:29422001,,,anthracosis,MONDO:0006654,Anthracosis,MeSH ID:D055008,anthracosis,DOID:10327,ICD10 ID:J60, +BMGC_DS00157,BMG_DS000209,,UMLS ID:C0003175,,,,,anthrax infection,MONDO:0005119,,,anthrax disease,DOID:7427,, +BMGC_DS00158,BMG_DS000210,Cutaneous anthrax,UMLS ID:C0003177,Cutaneous anthrax | Malignant pustule | Cutaneous anthrax (disorder),SNOMEDCT ID:84980006,Anthrax,ICD11 ID:1B97,cutaneous anthrax,MONDO:0004215,,MeSH ID:C531621,cutaneous anthrax,DOID:7426,ICD10 ID:A22.0, +BMGC_DS00159,BMG_DS000211,Antibody Deficiency Syndrome,UMLS ID:C0003257,,,,,,,Immunologic Deficiency Syndromes,MeSH ID:D007153,,,, +BMGC_DS00160,BMG_DS000212,,UMLS ID:C0003431,,,,,antisocial personality disorder,MONDO:0001164,,,antisocial personality disorder,DOID:10939,, +BMGC_DS00161,BMG_DS000213,Anuria,UMLS ID:C0003460,Anuria | Anuria (finding) | Passes no urine | Anuria | Anuria (finding),SNOMEDCT ID:2472002 | SNOMEDCT ID:139460001,,,anuria,MONDO:0002476,Anuria,MeSH ID:D001002,anuria,DOID:2983,,OMIM ID:MTHU012488 +BMGC_DS00162,BMG_DS000214,Anus Diseases,UMLS ID:C0003462,,,,,anus disorder,MONDO:0002519,Anus Diseases,MeSH ID:D001004,anus disease,DOID:3128,, +BMGC_DS00163,BMG_DS000215,,UMLS ID:C0003463,,,,,anus neoplasm,MONDO:0003046,,,anus benign neoplasm,DOID:4551,, +BMGC_DS00164,BMG_DS000216,,UMLS ID:C0003466,,,,,imperforate anus,MONDO:0001046,,,imperforate anus,DOID:10488,,OMIM ID:207500 | OMIM ID:301800 +BMGC_DS00165,BMG_DS000217,,UMLS ID:C0003467,,,,,anxiety,MONDO:0011918,,,,,,OMIM ID:607834 +BMGC_DS00166,BMG_DS000218,,UMLS ID:C0003469,,,,,anxiety disorder,MONDO:0005618,,,anxiety disorder,DOID:2030,, +BMGC_DS00167,BMG_DS000219,,UMLS ID:C0003477,,,,,separation anxiety disorder,MONDO:0001098,,,,,, +BMGC_DS00168,BMG_DS000220,Aortic Aneurysm,UMLS ID:C0003486,,,,,aortic aneurysm,MONDO:0005160,Aortic Aneurysm,MeSH ID:D001014,aortic aneurysm,DOID:3627,, +BMGC_DS00169,BMG_DS000221,Aortic Arch Syndromes,UMLS ID:C0003490,,,,,,,Aortic Arch Syndromes,MeSH ID:D001015,Takayasu's arteritis,DOID:2508,, +BMGC_DS00170,BMG_DS000222,,UMLS ID:C0003492,,,,,aorta coarctation,MONDO:0007345,,,,,,OMIM ID:120000 +BMGC_DS00171,BMG_DS000223,Aortic Diseases,UMLS ID:C0003493,,,,,aortic disorder,MONDO:0005561,Aortic Diseases,MeSH ID:D001018,aortic disease,DOID:520,, +BMGC_DS00172,BMG_DS000224,Aortic Rupture,UMLS ID:C0003496,,,,,,,Aortic Rupture,MeSH ID:D001019,,,, +BMGC_DS00173,BMG_DS000225,Supravalvular aortic stenosis,UMLS ID:C0003499,,,Congenital supravalvar aortic stenosis,ICD11 ID:LA8A.3,supravalvular aortic stenosis,MONDO:0008504,,,supravalvular aortic stenosis,DOID:1929,ICD10 ID:Q25.3,OMIM ID:MTHU014953 | OMIM ID:185500 +BMGC_DS00174,BMG_DS000227,Aortic Valve Insufficiency,UMLS ID:C0003504,,,,,aortic valve insufficiency,MONDO:0005648,Aortic Valve Insufficiency,MeSH ID:D001022,aortic valve insufficiency,DOID:57,, +BMGC_DS00175,BMG_DS000228,Aortic Valve Prolapse,UMLS ID:C0003505,,,,,aortic valve prolapse,MONDO:0006655,Aortic Valve Prolapse,MeSH ID:D001023,aortic valve prolapse,DOID:5232,, +BMGC_DS00176,BMG_DS000229,,UMLS ID:C0003507,,,,,aortic valve stenosis,MONDO:0042981,,,aortic valve stenosis,DOID:1712,, +BMGC_DS00177,BMG_DS000230,Aortitis,UMLS ID:C0003509,Aortitis | Aortitis (disorder) | (Arteritis unspecified) or (aortitis) | Arteritis unspecified | Aortitis | (Arteritis unspecified) or (aortitis) (disorder),SNOMEDCT ID:70933002 | SNOMEDCT ID:195368003,,,aortitis,MONDO:0006656,Aortitis,MeSH ID:D001025,aortitis,DOID:519,,OMIM ID:MTHU021216 +BMGC_DS00178,BMG_DS000231,Aortitis Syndrome,UMLS ID:C0003510,,,,,,,Takayasu Arteritis,MeSH ID:D013625,,,, +BMGC_DS00179,BMG_DS000234,,UMLS ID:C0003537,,,,,aphasia,MONDO:0000598,,,,,, +BMGC_DS00180,BMG_DS000235,,UMLS ID:C0003614,,,,,appendiceal neoplasm,MONDO:0001236,,,appendiceal neoplasm,DOID:11240,, +BMGC_DS00181,BMG_DS000236,Appendicitis,UMLS ID:C0003615,Appendicitis | Appendicitis (disorder),SNOMEDCT ID:74400008 | SNOMEDCT ID:155728006 | SNOMEDCT ID:155729003,,,appendicitis,MONDO:0005649,Appendicitis,MeSH ID:D001064,appendicitis,DOID:8337,, +BMGC_DS00182,BMG_DS000237,,UMLS ID:C0003635,,,,,apraxia,MONDO:0000665,,,apraxia,DOID:0060135,, +BMGC_DS00183,BMG_DS000238,Arachnoiditis,UMLS ID:C0003708,Arachnoiditis | Arachnoiditis (disorder) | Other meningitis NOS &/or arachnoiditis | Arachnoiditis | Other meningitis NOS | Other meningitis NOS &/or arachnoiditis (disorder) | Other meningitis NOS &/or arachnoiditis | Other meningitis NOS | Arachnoiditis | Other meningitis NOS &/or arachnoiditis (disorder),SNOMEDCT ID:8217007 | SNOMEDCT ID:267681007 | SNOMEDCT ID:154986008,,,arachnoiditis,MONDO:0015304,Arachnoiditis,MeSH ID:D001100,arachnoiditis,DOID:12156,, +BMGC_DS00184,BMG_DS000240,Arbovirus Infections,UMLS ID:C0003723,,,,,arbovirus infection,MONDO:0020731,Arbovirus Infections,MeSH ID:D001102,viral infectious disease,DOID:934,, +BMGC_DS00185,BMG_DS000241,Arcus Senilis,UMLS ID:C0003742,,,,,arcus senilis,MONDO:0007150,Arcus Senilis,MeSH ID:D001112,arcus senilis,DOID:11342,,OMIM ID:107800 +BMGC_DS00186,BMG_DS000242,Arenaviridae Infections,UMLS ID:C0003756,,,,,Arenaviridae infectious disease,MONDO:0005650,Arenaviridae Infections,MeSH ID:D001117,,,, +BMGC_DS00187,BMG_DS000243,,UMLS ID:C0003803,,,,,Chiari malformation,MONDO:0000115,,,,,, +BMGC_DS00188,BMG_DS000245,Cardiac Arrhythmia,UMLS ID:C0003811,,,,,cardiac rhythm disease,MONDO:0007263,"Arrhythmias, Cardiac",MeSH ID:D001145,,,, +BMGC_DS00189,BMG_DS000247,Arterial Occlusive Diseases,UMLS ID:C0003838,,,,,,,Arterial Occlusive Diseases,MeSH ID:D001157,peripheral vascular disease,DOID:341,, +BMGC_DS00190,BMG_DS000249,Arteriosclerosis,UMLS ID:C0003850,Atherosclerotic cardiovascular disease | Arteriosclerosis | AS - Atherosclerosis | Atherosclerosis | Atherosclerosis (disorder) | Arteriosclerosis | Arteriosclerosis (morphologic abnormality),SNOMEDCT ID:195251000 | SNOMEDCT ID:28960008,,,arteriosclerosis disorder,MONDO:0002277,Arteriosclerosis,MeSH ID:D001161,arteriosclerosis,DOID:2349,,OMIM ID:MTHU037126 +BMGC_DS00191,BMG_DS000250,Arteriosclerosis Obliterans,UMLS ID:C0003851,,,,,arteriosclerosis obliterans,MONDO:0006659,Arteriosclerosis Obliterans,MeSH ID:D001162,arteriosclerosis obliterans,DOID:5160,, +BMGC_DS00192,BMG_DS000251,,UMLS ID:C0003860,,,,,arteritis,MONDO:0043494,,,,,, +BMGC_DS00193,BMG_DS000253,Arthritis,UMLS ID:C0003864,Arthritis | Arthritis (disorder) | Inflammatory arthritis | (Arthropathy NOS) or (arthritis) | Arthritis | Arthropathy NOS | (Arthropathy NOS) or (arthritis) (disorder) | Arthritis (finding) | Arthritis,SNOMEDCT ID:3723001 | SNOMEDCT ID:202059001 | SNOMEDCT ID:372091005,,,arthritic joint disease,MONDO:0005578,Arthritis,MeSH ID:D001168,arthritis,DOID:848,,OMIM ID:MTHU001688 +BMGC_DS00194,BMG_DS000254,"Arthritis, Gouty",UMLS ID:C0003868,,,,,,,"Arthritis, Gouty",MeSH ID:D015210,gout,DOID:13189,, +BMGC_DS00195,BMG_DS000255,"Arthritis, Infectious",UMLS ID:C0003869,,,,,infective arthritis,MONDO:0042485,"Arthritis, Infectious",MeSH ID:D001170,septic arthritis,DOID:813,, +BMGC_DS00196,BMG_DS000256,"Arthritis, Psoriatic",UMLS ID:C0003872,,,,,psoriatic arthritis,MONDO:0011849,"Arthritis, Psoriatic",MeSH ID:D015535,psoriatic arthritis,DOID:9008,, +BMGC_DS00197,BMG_DS000257,Rheumatoid Arthritis,UMLS ID:C0003873,,,,,rheumatoid arthritis,MONDO:0008383,"Arthritis, Rheumatoid",MeSH ID:D001172,rheumatoid arthritis,DOID:7148,,OMIM ID:180300 +BMGC_DS00198,BMG_DS000259,"Arthritis, Viral",UMLS ID:C0003875,,,,,,,"Arthritis, Infectious",MeSH ID:D001170,,,, +BMGC_DS00199,BMG_DS000261,,UMLS ID:C0003892,,,,,neurogenic arthropathy,MONDO:0001935,,,neurogenic arthropathy,DOID:14286,, +BMGC_DS00200,BMG_DS000262,Arthus Reaction,UMLS ID:C0003907,,,,,arthus reaction,MONDO:0006660,Arthus Reaction,MeSH ID:D001183,arthus reaction,DOID:1556,, +BMGC_DS00201,BMG_DS000263,,UMLS ID:C0003910,,,,,articulation disorder,MONDO:0002903,,,articulation disorder,DOID:4186,, +BMGC_DS00202,BMG_DS000264,Asbestosis,UMLS ID:C0003949,Asbestosis | Amianthosis | Asbestos pneumoconiosis | Asbestosis (disorder) | Pulmonary asbestosis | (Asbestosis) or (byssinosis) or (pleural plaque disease) | Pleural plaque disease | Asbestosis | Byssinosis | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | Byssinosis | Asbestosis | Pleural plaque disease | (Asbestosis) or (byssinosis) or (pleural plaque disease) | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder),SNOMEDCT ID:22607003 | SNOMEDCT ID:155589004 | SNOMEDCT ID:266400008,,,asbestosis,MONDO:0016466,Asbestosis,MeSH ID:D001195,asbestosis,DOID:10320,ICD10 ID:J61, +BMGC_DS00203,BMG_DS000265,Ascariasis,UMLS ID:C0003950,Ascariasis | Ascariosis | Ascaridiasis | Ascariasis - roundworms | Ascariasis (disorder),SNOMEDCT ID:2435008,,,ascariasis,MONDO:0005654,Ascariasis,MeSH ID:D001196,ascariasis,DOID:456,ICD10 ID:B77, +BMGC_DS00204,BMG_DS000266,Ascaridiasis,UMLS ID:C0003952,Ascariasis | Ascariosis | Ascaridiasis | Ascariasis - roundworms | Ascariasis (disorder),SNOMEDCT ID:2435008,,,ascaridiasis,MONDO:0005655,Ascaridiasis,MeSH ID:D001198,ascaridiasis,DOID:3108,, +BMGC_DS00205,BMG_DS000267,Ascites,UMLS ID:C0003962,Ascites | Hydroperitoneum | Hydroperitonia | Ascitic fluid | Peritoneal dropsy | Hydrops abdominis | Abdominal dropsy | Ascites (disorder) | Ascites (disorder) | Ascites | Hydrops abdominis | Hydroperitonia | Hydroperitoneum,SNOMEDCT ID:13124004 | SNOMEDCT ID:389026000,,,,,Ascites,MeSH ID:D001201,,,ICD10 ID:R18,OMIM ID:MTHU037219 +BMGC_DS00206,BMG_DS000268,Ascorbic Acid Deficiency,UMLS ID:C0003969,,,,,,,Ascorbic Acid Deficiency,MeSH ID:D001206,,,, +BMGC_DS00207,BMG_DS000269,,UMLS ID:C0003977,,,,,,,,,osteonecrosis,DOID:10159,, +BMGC_DS00208,BMG_DS000270,Aspergillosis,UMLS ID:C0004030,Aspergillosis | Aspergillosis (disorder) | Infection due to Aspergillus | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Aspergillosis | Mycoses - other | Histoplasmosis | Other mycoses | Piedra | Sporotrichosis | Coccidioidomycosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Coccidioidomycosis | Other mycoses | Sporotrichosis | Mycoses - other | Piedra | Histoplasmosis | Aspergillosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder),SNOMEDCT ID:65553006 | SNOMEDCT ID:154408001 | SNOMEDCT ID:266218008,,,aspergillosis,MONDO:0005657,Aspergillosis,MeSH ID:D001228,aspergillosis,DOID:13564,ICD10 ID:B44, +BMGC_DS00209,BMG_DS000271,"Aspergillosis, Allergic Bronchopulmonary",UMLS ID:C0004031,,,,,,,"Aspergillosis, Allergic Bronchopulmonary",MeSH ID:D001229,allergic bronchopulmonary aspergillosis,DOID:13166,, +BMGC_DS00210,BMG_DS000273,Asphyxia Neonatorum,UMLS ID:C0004045,,,,,perinatal asphyxia,MONDO:0006663,Asphyxia Neonatorum,MeSH ID:D001238,asphyxia neonatorum,DOID:11088,, +BMGC_DS00211,BMG_DS000277,Asthma,UMLS ID:C0004096,Asthma (disorder) | Asthma | Asthma | Asthma (disorder) | Asthmatic bronchitis | Asthma | Wheezy bronchitis | Allergic bronchitis | Asthmatic bronchitis (disorder) | Airway hyperreactivity | Asthmatic | Bronchial asthma | Bronchial hyperreactivity | BHR - Bronchial hyperreactivity | Bronchial hyperresponsiveness | Bronchial hypersensitivity | Asthma | Asthma (disorder) | Hyperreactive airway disease,SNOMEDCT ID:187687003 | SNOMEDCT ID:155574008 | SNOMEDCT ID:278517007 | SNOMEDCT ID:21341004 | SNOMEDCT ID:195967001,,,asthma,MONDO:0004979,Asthma,MeSH ID:D001249,asthma,DOID:2841,ICD10 ID:J45,OMIM ID:MTHU003537 +BMGC_DS00212,BMG_DS000279,Astigmatism,UMLS ID:C0004106,Astigmatism | Astigmatism (disorder),SNOMEDCT ID:82649003 | SNOMEDCT ID:155134009,Astigmatism,ICD11 ID:9D00.2,astigmatism,MONDO:0011284,Astigmatism,MeSH ID:D001251,astigmatism,DOID:11782,ICD10 ID:H52.2,OMIM ID:603047 | OMIM ID:MTHU011134 +BMGC_DS00213,BMG_DS000280,,UMLS ID:C0004114,,,,,astrocytoma (excluding glioblastoma),MONDO:0019781,,,malignant astrocytoma,DOID:3069,, +BMGC_DS00214,BMG_DS000281,Ataxia Telangiectasia,UMLS ID:C0004135,,,,,ataxia telangiectasia,MONDO:0008840,Ataxia Telangiectasia,MeSH ID:D001260,ataxia telangiectasia,DOID:12704,,OMIM ID:208900 +BMGC_DS00215,BMG_DS000282,"Ataxias, Hereditary",UMLS ID:C0004138,,,,,hereditary ataxia,MONDO:0100309,Spinocerebellar Degenerations,MeSH ID:D013132,,,, +BMGC_DS00216,BMG_DS000283,Atherosclerosis,UMLS ID:C0004153,Atherosclerosis (& [NOS]) | Atherosclerosis | Arteriosclerosis NOS | Atherosclerosis (& [NOS]) (disorder) | Arteriosclerosis NOS | Atherosclerosis | Atherosclerosis (& [NOS]) | Atherosclerosis (& [NOS]) (disorder) | Atherosclerosis | Atheromatosis | Atherosclerosis (morphologic abnormality) | Atherosclerosis | Atherosclerosis (disorder) | Atherosclerotic cardiovascular disease | Arteriosclerosis | AS - Atherosclerosis | Atherosclerosis | Atherosclerosis (disorder),SNOMEDCT ID:266318005 | SNOMEDCT ID:155414001 | SNOMEDCT ID:38716007 | SNOMEDCT ID:155382007 | SNOMEDCT ID:195251000 | SNOMEDCT ID:194848007,,,atherosclerosis,MONDO:0005311,Atherosclerosis,MeSH ID:D050197,atherosclerosis | arteriosclerotic cardiovascular disease,DOID:1936;DOID:2348,ICD10 ID:I70,OMIM ID:MTHU036909 +BMGC_DS00217,BMG_DS000285,Athetosis,UMLS ID:C0004158,Athetosis | Athetosis (disorder),SNOMEDCT ID:44913001,,,,,Athetosis,MeSH ID:D001264,,,,OMIM ID:MTHU004613 +BMGC_DS00218,BMG_DS000288,Atrial Fibrillation,UMLS ID:C0004238,,,,,atrial fibrillation,MONDO:0004981,Atrial Fibrillation,MeSH ID:D001281,atrial fibrillation,DOID:0060224,, +BMGC_DS00219,BMG_DS000289,,UMLS ID:C0004239,,,,,atrial flutter,MONDO:0005310,,,,,, +BMGC_DS00220,BMG_DS000290,Atrioventricular Block,UMLS ID:C0004245,,,,,atrioventricular block,MONDO:0000465,Atrioventricular Block,MeSH ID:D054537,atrioventricular block,DOID:0050820,, +BMGC_DS00221,BMG_DS000293,,UMLS ID:C0004331,,,,,atrioventricular dissociation,MONDO:0008848,,,,,,OMIM ID:209600 +BMGC_DS00222,BMG_DS000294,,UMLS ID:C0004352,,,,,autism,MONDO:0005260,,,autistic disorder,DOID:12849,,OMIM ID:209850 +BMGC_DS00223,BMG_DS000295,Autoimmune Diseases,UMLS ID:C0004364,,,,,autoimmune disease,MONDO:0007179,Autoimmune Diseases,MeSH ID:D001327,,,,OMIM ID:109100 +BMGC_DS00224,BMG_DS000296,,UMLS ID:C0004444,,,,,avoidant personality disorder,MONDO:0002027,,,avoidant personality disorder,DOID:1509,, +BMGC_DS00225,BMG_DS000298,Azoospermia,UMLS ID:C0004509,Azoospermia | Azoospermia (finding) | (Azoospermia) or (Young's syndrome) | Young's syndrome | Azoospermia | (Azoospermia) or (Young's syndrome) (disorder) | Azoospermia | Azoospermia (disorder) | Azoospermia | Azoospermatism | Azoospermia (finding) | Sperm absent - azoospermia | Sperm absent | Azoospermia disorder (disorder) | Azoospermia disorder,SNOMEDCT ID:167781002 | SNOMEDCT ID:145008007 | SNOMEDCT ID:198010009 | SNOMEDCT ID:155925000 | SNOMEDCT ID:48188009 | SNOMEDCT ID:425558002,,,azoospermia,MONDO:0100459,Azoospermia,MeSH ID:D053713,azoospermia,DOID:14227,ICD10 ID:N46.0,OMIM ID:MTHU037275 +BMGC_DS00226,BMG_DS000299,Babesiosis,UMLS ID:C0004576,Babesiosis | Piroplasmosis | Babesiasis | Infection by Babesia | Red water fever | Babesiosis (disorder) | Babesiosis | Babesiosis (disorder),SNOMEDCT ID:21061004 | SNOMEDCT ID:187241002,Babesiosis,ICD11 ID:1F52,babesiosis,MONDO:0005661,Babesiosis,MeSH ID:D001404,babesiosis,DOID:9643,ICD10 ID:B60.0, +BMGC_DS00227,BMG_DS000300,Nonproliferative diabetic retinopathy,UMLS ID:C0004606,Non proliferative diabetic retinopathy | Background diabetic retinopathy | NPDR - Non proliferative diabetic retinopathy | BDR - Background diabetic retinopathy | Nonproliferative diabetic retinopathy | Nonproliferative retinopathy due to diabetes mellitus (disorder) | Nonproliferative retinopathy due to diabetes mellitus,SNOMEDCT ID:390834004,,,background diabetic retinopathy,MONDO:0001661,,,background diabetic retinopathy,DOID:13208,, +BMGC_DS00228,BMG_DS000301,,UMLS ID:C0004608,,,,,,,,,exudative vitreoretinopathy,DOID:0050535,, +BMGC_DS00229,BMG_DS000302,,UMLS ID:C0004610,,,,,bacterial infectious disease with sepsis,MONDO:0005229,,,,,, +BMGC_DS00230,BMG_DS000305,Bacterial Infections,UMLS ID:C0004623,,,,,bacterial infectious disease,MONDO:0005113,Bacterial Infections,MeSH ID:D001424,bacterial infectious disease,DOID:104,, +BMGC_DS00231,BMG_DS000306,"Pneumonia, Bacterial",UMLS ID:C0004626,,,,,bacterial pneumonia,MONDO:0004652,"Pneumonia, Bacterial",MeSH ID:D018410,bacterial pneumonia,DOID:874,, +BMGC_DS00232,BMG_DS000307,,UMLS ID:C0004659,,,,,bacteriuria,MONDO:0001882,,,bacteriuria,DOID:1412,, +BMGC_DS00233,BMG_DS000309,Bagassosis,UMLS ID:C0004681,Bagassosis | Bagasse disease | Bagasse workers' disease | Bagasse workers' lung | Sugar cane workers' hypersensitivity pneumonitis | Bagassosis (disorder),SNOMEDCT ID:67242002,Bagassosis,ICD11 ID:CA70.1,bagassosis,MONDO:0001540,Pneumoconiosis,MeSH ID:D011009,bagassosis,DOID:12522,ICD10 ID:J67.1, +BMGC_DS00234,BMG_DS000310,Balanitis,UMLS ID:C0004690,Balanitis | Balanoposthitis | (Balanitis) or (balanoposthitis) | (Balanitis) or (balanoposthitis) (disorder) | Balanitis | Balanitis (disorder),SNOMEDCT ID:198020004 | SNOMEDCT ID:198021000 | SNOMEDCT ID:266572002 | SNOMEDCT ID:155928003 | SNOMEDCT ID:44882003,"Balanoposthitis, unspecified",ICD11 ID:GB06.0Z,balanitis,MONDO:0006672,Balanitis,MeSH ID:D001446,balanitis,DOID:13033,ICD10 ID:N48.1, +BMGC_DS00235,BMG_DS000311,Balanoposthitis,UMLS ID:C0004691,Balanitis | Balanoposthitis | (Balanitis) or (balanoposthitis) | (Balanitis) or (balanoposthitis) (disorder) | Balanoposthitis | Balanoposthitis (disorder),SNOMEDCT ID:198020004 | SNOMEDCT ID:46090001,,,balanoposthitis,MONDO:0001618,,,balanoposthitis,DOID:13031,ICD10 ID:N47.6, +BMGC_DS00236,BMG_DS000312,Balantidiasis,UMLS ID:C0004692,Balantidiasis | Balantidiosis | Balantidial dysentery | Balantidiasis (disorder),SNOMEDCT ID:57725006,Infections due to Balantidium coli,ICD11 ID:1A30,balantidiasis,MONDO:0005662,Balantidiasis,MeSH ID:D001447,balantidiasis,DOID:12386,ICD10 ID:A07.0, +BMGC_DS00237,BMG_DS000313,Balkan Nephropathy,UMLS ID:C0004698,,,,,Balkan nephropathy,MONDO:0007416,Balkan Nephropathy,MeSH ID:D001449,Balkan nephropathy,DOID:3052,,OMIM ID:124100 +BMGC_DS00238,BMG_DS000314,Balo's Concentric Sclerosis,UMLS ID:C0004712,,,,,Balo concentric sclerosis,MONDO:0016430,Diffuse Cerebral Sclerosis of Schilder,MeSH ID:D002549,,,, +BMGC_DS00239,BMG_DS000316,Barrett Esophagus,UMLS ID:C0004763,,,,,Barrett esophagus,MONDO:0013662,Barrett Esophagus,MeSH ID:D001471,Barrett's esophagus,DOID:9206,,OMIM ID:614266 +BMGC_DS00240,BMG_DS000317,Cyst of Bartholin's gland duct,UMLS ID:C0004767,Cyst of Bartholin's gland duct | Bartholin's gland duct cyst | Bartholin's cyst | Bartholin's gland cyst | Cyst of Bartholin's gland | Cyst of Bartholin's gland duct (disorder) | Cyst of Bartholin gland duct,SNOMEDCT ID:57044006,,,Bartholin duct cyst,MONDO:0004593,,,Bartholin's duct cyst,DOID:851,, +BMGC_DS00241,BMG_DS000319,Bartonella Infections,UMLS ID:C0004771,,,,,bartonellosis,MONDO:0005664,Bartonella Infections,MeSH ID:D001474,bartonellosis,DOID:11102,, +BMGC_DS00242,BMG_DS000321,Bartter Disease,UMLS ID:C0004775,,,,,Bartter syndrome,MONDO:0015231,Bartter Syndrome,MeSH ID:D001477,Bartter disease,DOID:445,, +BMGC_DS00243,BMG_DS000322,,UMLS ID:C0004779,,,,,nevoid basal cell carcinoma syndrome,MONDO:0007187,,,nevoid basal cell carcinoma syndrome,DOID:2512,, +BMGC_DS00244,BMG_DS000323,Basal Ganglia Diseases,UMLS ID:C0004782,,,,,,,Basal Ganglia Diseases,MeSH ID:D001480,basal ganglia disease,DOID:679,, +BMGC_DS00245,BMG_DS000324,Basilar Artery Insufficiency,UMLS ID:C0004812,,,,,basilar artery insufficiency,MONDO:0002250,Vertebrobasilar Insufficiency,MeSH ID:D014715,basilar artery insufficiency,DOID:223,, +BMGC_DS00246,BMG_DS000326,Beckwith-Wiedemann Syndrome,UMLS ID:C0004903,,,,,Beckwith-Wiedemann syndrome,MONDO:0007534,Beckwith-Wiedemann Syndrome,MeSH ID:D001506,Beckwith-Wiedemann syndrome,DOID:5572,,OMIM ID:130650 +BMGC_DS00247,BMG_DS000327,,UMLS ID:C0004936,,,,,mental disorder,MONDO:0005084,,,disease of mental health,DOID:150,, +BMGC_DS00248,BMG_DS000328,Behcet Syndrome,UMLS ID:C0004943,,,,,Behcet disease,MONDO:0007191,Behcet Syndrome,MeSH ID:D001528,Behcet's disease,DOID:13241,,OMIM ID:109650 +BMGC_DS00249,BMG_DS000329,Bejel,UMLS ID:C0004945,Njovera | Nonvenereal endemic syphilis | Bejel | Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) | Nonvenereal endemic syphilis (& [Bejel] or [Njovera]) (disorder) | Bejel | Bejel (disorder),SNOMEDCT ID:186978001 | SNOMEDCT ID:240686008,,,bejel | Treponema infectious disease,MONDO:0007000;MONDO:0001714,Treponemal Infections,MeSH ID:D014211,bejel,DOID:13431,, +BMGC_DS00250,BMG_DS000330,,UMLS ID:C0004991,,,,,benign colon neoplasm,MONDO:0002278,,,,,, +BMGC_DS00251,BMG_DS000334,Beriberi,UMLS ID:C0005122,Beriberi | Beriberi (disorder) | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Pellagra | Thiamine/niacin deficiency | Beriberi | Beri-beri | Thiamine deficiency | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Beriberi | Thiamine/niacin deficiency | Beri-beri | Thiamine deficiency | Pellagra | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | Thiamin deficiency | Chastek's paralysis | Vitamin B1 deficiency | Thiamine deficiency | Aneurin deficiency | Thiamin deficiency (disorder),SNOMEDCT ID:36656008 | SNOMEDCT ID:267491008 | SNOMEDCT ID:154725000 | SNOMEDCT ID:190625009 | SNOMEDCT ID:35843007,"Beriberi, unspecified",ICD11 ID:5B5A.0Z,beriberi,MONDO:0006676,Beriberi,MeSH ID:D001602,beriberi,DOID:13725,ICD10 ID:E51.1, +BMGC_DS00252,BMG_DS000335,Bernard-Soulier Syndrome,UMLS ID:C0005129,,,,,Bernard-Soulier syndrome,MONDO:0009276,Bernard-Soulier Syndrome,MeSH ID:D001606,Bernard-Soulier syndrome,DOID:2217,,OMIM ID:231200 +BMGC_DS00253,BMG_DS000337,,UMLS ID:C0005138,,,,,,,,,berylliosis,DOID:10322,, +BMGC_DS00254,BMG_DS000339,beta Thalassemia,UMLS ID:C0005283,Beta thalassemia | Beta thalassemia syndrome | Beta thalassaemia syndrome | Beta thalassaemia | Beta thalassemia (disorder) | beta thalassemia | beta thalassaemia,SNOMEDCT ID:65959000,,,beta thalassemia,MONDO:0019402,beta-Thalassemia,MeSH ID:D017086,beta thalassemia,DOID:12241,, +BMGC_DS00255,BMG_DS000340,Bile Duct Diseases,UMLS ID:C0005395,,,,,bile duct disorder,MONDO:0002887,Bile Duct Diseases,MeSH ID:D001649,bile duct disease,DOID:4138,, +BMGC_DS00256,BMG_DS000341,,UMLS ID:C0005396,,,,,bile duct neoplasm,MONDO:0021662,,,bile duct cancer,DOID:4606,, +BMGC_DS00257,BMG_DS000342,"Cholestasis, Extrahepatic",UMLS ID:C0005398,,,,,extrahepatic cholestasis,MONDO:0006757,"Cholestasis, Extrahepatic",MeSH ID:D001651,extrahepatic cholestasis,DOID:13619,, +BMGC_DS00258,BMG_DS000343,Bile Reflux,UMLS ID:C0005403,,,,,bile reflux,MONDO:0006677,Bile Reflux,MeSH ID:D001655,bile reflux,DOID:12237,, +BMGC_DS00259,BMG_DS000344,,UMLS ID:C0005411,,,,,biliary atresia,MONDO:0008867,,,biliary atresia,DOID:13608,, +BMGC_DS00260,BMG_DS000345,Biliary Dyskinesia,UMLS ID:C0005416,,,,,biliary dyskinesia,MONDO:0005667,Biliary Dyskinesia,MeSH ID:D001657,biliary dyskinesia,DOID:4140,, +BMGC_DS00261,BMG_DS000346,Biliary Tract Diseases,UMLS ID:C0005424,,,,,,,Biliary Tract Diseases,MeSH ID:D001660,biliary tract disease,DOID:9741,, +BMGC_DS00262,BMG_DS000347,,UMLS ID:C0005426,,,,,biliary tract neoplasm,MONDO:0005304,,,biliary tract cancer,DOID:4607,, +BMGC_DS00263,BMG_DS000349,Binocular vision disorder,UMLS ID:C0005461,Binocular vision disorder | Binocular vision disorder (disorder),SNOMEDCT ID:83275001,,,binocular vision disease,MONDO:0001564,,,binocular vision disease,DOID:12667,, +BMGC_DS00264,BMG_DS000350,,UMLS ID:C0005586,,,,,bipolar disorder,MONDO:0004985,,,bipolar disorder,DOID:3312,, +BMGC_DS00265,BMG_DS000351,,UMLS ID:C0005587,,,,,bipolar depression,MONDO:0024613,,,bipolar disorder,DOID:3312,, +BMGC_DS00266,BMG_DS000352,Bird Diseases,UMLS ID:C0005591,,,,,bird disease,MONDO:0024905,Bird Diseases,MeSH ID:D001715,,,, +BMGC_DS00267,BMG_DS000353,Bird Fancier's Lung,UMLS ID:C0005592,,,,,bird fancier's lung,MONDO:0005668,Bird Fancier's Lung,MeSH ID:D001716,bird fancier's lung,DOID:13891,, +BMGC_DS00268,BMG_DS000354,Blackwater Fever,UMLS ID:C0005681,,,,,blackwater fever,MONDO:0005670,Blackwater Fever,MeSH ID:D001742,blackwater fever,DOID:14068,, +BMGC_DS00269,BMG_DS000355,Urinary bladder stone (disorder),UMLS ID:C0005683,Urinary bladder stone | Vesical calculus | Bladder stone | Vesicolithiasis | Bladder calculus | Urinary bladder stone (disorder) | Calculus of bladder,SNOMEDCT ID:70650003,,,bladder calculus,MONDO:0006678,,,bladder calculus,DOID:11355,, +BMGC_DS00270,BMG_DS000356,,UMLS ID:C0005684,,,,,urinary bladder cancer,MONDO:0001187,,,urinary bladder cancer,DOID:11054,,OMIM ID:109800 +BMGC_DS00271,BMG_DS000357,Urinary Bladder Diseases,UMLS ID:C0005686,,,,,urinary bladder disorder,MONDO:0006026,Urinary Bladder Diseases,MeSH ID:D001745,bladder disease,DOID:365,, +BMGC_DS00272,BMG_DS000358,Bladder Exstrophy,UMLS ID:C0005689,,,,,bladder exstrophy,MONDO:0010805,Bladder Exstrophy,MeSH ID:D001746,bladder exstrophy,DOID:0080174,, +BMGC_DS00273,BMG_DS000359,Bladder neck obstruction,UMLS ID:C0005694,Bladder neck obstruction (& [contracture] or [stenosis] or [bladder outflow obstruction]) | Contracture of bladder neck | Stenosis of bladder neck | BOO - Bladder outflow obstruction | Bladder neck obstruction | Bladder neck obstruction (& [contracture] or [stenosis] or [bladder outflow obstruction]) (disorder) | Bladder neck obstruction | Vesicourethral orifice obstruction | Obstruction of neck of urinary bladder | Obstruction of neck of urinary bladder (disorder) | BNO - bladder neck obstruction | Bladder neck obstruction | Bladder neck obstruction (disorder) | Bladder neck obstruction | Acquired bladder neck obstruction | Vesicourethral orifice obstruction | Bladder neck obstruction (disorder) | BNO - Bladder neck obstruction,SNOMEDCT ID:197859007 | SNOMEDCT ID:399072004 | SNOMEDCT ID:155887006 | SNOMEDCT ID:25220001,,,bladder neck obstruction,MONDO:0006679,,,bladder neck obstruction,DOID:13948,, +BMGC_DS00274,BMG_DS000360,,UMLS ID:C0005695,,,,,urinary bladder neoplasm,MONDO:0004987,,,urinary bladder cancer,DOID:11054,, +BMGC_DS00275,BMG_DS000361,Neurogenic Urinary Bladder,UMLS ID:C0005697,,,,,obsolete neurogenic bladder,MONDO:0001445,"Urinary Bladder, Neurogenic",MeSH ID:D001750,neurogenic bladder,DOID:12143,, +BMGC_DS00276,BMG_DS000362,,UMLS ID:C0005699,,,,,"blast phase chronic myelogenous leukemia, BCR-ABL1 positive",MONDO:0006115,,,,,, +BMGC_DS00277,BMG_DS000363,Blastomycosis,UMLS ID:C0005716,Blastomycosis | Infection by Blastomyces | Blastomycotic infection | Blastomycosis (disorder) | North American blastomycosis | Gilchrist's disease | Chicago disease | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) | Chicago disease | North American blastomycosis | Blastomycosis | Gilchrist's disease | Blastomycosis (& [Chicago disease] or [Gilchrists disease] or [North American]) (disorder) | (Other dermatophytosis) or (blastomycosis) | Blastomycosis | Other dermatophytosis | (Other dermatophytosis) or (blastomycosis) (disorder),SNOMEDCT ID:69996000 | SNOMEDCT ID:187064007 | SNOMEDCT ID:154402000 | SNOMEDCT ID:266217003,,,blastomycosis,MONDO:0005672,Blastomycosis,MeSH ID:D001759,blastomycosis,DOID:12663,ICD10 ID:B40, +BMGC_DS00278,BMG_DS000364,Gilchrist Disease,UMLS ID:C0005717,,,,,,,Blastomycosis,MeSH ID:D001759,,,, +BMGC_DS00279,BMG_DS000369,Blepharitis,UMLS ID:C0005741,Blepharitis | Blepharitis (disorder) | Blepharitis (& [cellulitis of eyelids]) | Cellulitis of eyelids | Blepharitis | Blepharitis (& [cellulitis of eyelids]) (disorder) | Blepharitis | Blepharitis (disorder) | Inflammation of lid margin | Marginal blepharitis,SNOMEDCT ID:193907001 | SNOMEDCT ID:155171006 | SNOMEDCT ID:155170007 | SNOMEDCT ID:193908006 | SNOMEDCT ID:41446000,Infectious blepharitis,ICD11 ID:9A01.3,blepharitis,MONDO:0004785,Blepharitis,MeSH ID:D001762,blepharitis,DOID:9423,ICD10 ID:H01.0,OMIM ID:MTHU036409 +BMGC_DS00280,BMG_DS000370,Blepharochalasis,UMLS ID:C0005742,Blepharochalasis | Blepharochalasis (disorder) | Blepharochalasis | Dermatolysis palpebrarum | Fuchs' syndrome II | Blepharochalasis (disorder) | (Blepharochalasis) or (pseudoptosis) | Blepharochalasis | Pseudoptosis | (Blepharochalasis) or (pseudoptosis) (disorder),SNOMEDCT ID:267650003 | SNOMEDCT ID:193962005 | SNOMEDCT ID:47704002 | SNOMEDCT ID:193944001,Blepharochalasis,ICD11 ID:9A06.8,blepharochalasis,MONDO:0002660,,,blepharochalasis,DOID:348,ICD10 ID:H02.3,OMIM ID:MTHU037413 +BMGC_DS00281,BMG_DS000371,Blepharoconjunctivitis,UMLS ID:C0005743,Blepharoconjunctivitis | Blepharoconjunctivitis (disorder),SNOMEDCT ID:68659002 | SNOMEDCT ID:155164001,Blepharoconjunctivitis,ICD11 ID:9A60.4,blepharoconjunctivitis,MONDO:0002307,,,blepharoconjunctivitis,DOID:2456,ICD10 ID:H10.5,OMIM ID:MTHU070232 +BMGC_DS00282,BMG_DS000372,,UMLS ID:C0005744,,,,,blepharophimosis,MONDO:0001008,,,blepharophimosis,DOID:10348,, +BMGC_DS00283,BMG_DS000373,Blepharoptosis,UMLS ID:C0005745,Ptosis of eyelid | Drooping eyelid | Ptosis of eyelid (disorder) | Droopy eyelid | Blepharoptosis | Ptosis | Ptosis eyelid | (Congenital ptosis) or (blepharoptosis) | Blepharoptosis | Congenital ptosis | (Congenital ptosis) or (blepharoptosis) (disorder),SNOMEDCT ID:11934000 | SNOMEDCT ID:204197004,,,ptosis,MONDO:0000728,Blepharoptosis,MeSH ID:D001763,ptosis,DOID:0060260,,OMIM ID:MTHU000860 +BMGC_DS00284,BMG_DS000374,Blepharospasm,UMLS ID:C0005747,Blepharospasm | Blepharospasm (disorder) | Spasm of eyelids | Essential blepharospasm | Benign essential blepharospasm | Blepharospasm (spasm of eyelid) | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) | Writer's cramp-organic | Writer's cramp -organic | Restless legs - organic | Organic writers' cramp | Blepharospasm | Spasmodic torticollis | Myoclonic jerks | Jerks - myoclonic | Choreo-athetosis | Organic restless legs | Extrapyramidal disease NOS | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) (disorder) | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) | Writer's cramp -organic | Writer's cramp-organic | Jerks - myoclonic | Spasmodic torticollis | Blepharospasm | Choreo-athetosis | Organic restless legs | Organic writers' cramp | Extrapyramidal disease NOS | Restless legs - organic | Myoclonic jerks | (Extrapyramidal disease NOS) or (blepharospasm) or (choreo-athetosis) or (writer's cramp - organic) or (myoclonic jerks) or (spasmodic torticollis) (disorder),SNOMEDCT ID:59026006 | SNOMEDCT ID:155009007 | SNOMEDCT ID:267690000,Benign essential blepharospasm,ICD11 ID:8A02.00,,,Blepharospasm,MeSH ID:D001764,blepharospasm,DOID:529,ICD10 ID:G24.5,OMIM ID:MTHU036688 +BMGC_DS00285,BMG_DS000375,Blind Loop Syndrome,UMLS ID:C0005750,,,,,blind loop syndrome,MONDO:0005673,Blind Loop Syndrome,MeSH ID:D001765,blind loop syndrome,DOID:10606,, +BMGC_DS00286,BMG_DS000376,Blood Coagulation Disorders,UMLS ID:C0005779,,,,,blood coagulation disease,MONDO:0001531,Blood Coagulation Disorders,MeSH ID:D001778,blood coagulation disease,DOID:1247,, +BMGC_DS00287,BMG_DS000377,,UMLS ID:C0005806,,,,,blood group incompatibility,MONDO:0002901,,,blood group incompatibility,DOID:4176,, +BMGC_DS00288,BMG_DS000378,Blood Platelet Disorders,UMLS ID:C0005818,,,,,"inherited bleeding disorder, platelet-type",MONDO:0000009,Blood Platelet Disorders,MeSH ID:D001791,blood platelet disease,DOID:2218,, +BMGC_DS00289,BMG_DS000379,Blood Protein Disorders,UMLS ID:C0005830,,,,,obsolete blood protein disease,MONDO:0003804,Blood Protein Disorders,MeSH ID:D001796,blood protein disease,DOID:620,, +BMGC_DS00290,BMG_DS000380,Bloom Syndrome,UMLS ID:C0005859,,,,,Bloom syndrome,MONDO:0008876,Bloom Syndrome,MeSH ID:D001816,Bloom syndrome,DOID:2717,,OMIM ID:210900 +BMGC_DS00291,BMG_DS000383,Bone Diseases,UMLS ID:C0005940,,,,,bone disorder,MONDO:0005381,Bone Diseases,MeSH ID:D001847,bone disease,DOID:0080001,, +BMGC_DS00292,BMG_DS000384,"Bone Diseases, Developmental",UMLS ID:C0005941,,,,,bone development disease,MONDO:0005497,"Bone Diseases, Developmental",MeSH ID:D001848,,,, +BMGC_DS00293,BMG_DS000385,"Bone Diseases, Endocrine",UMLS ID:C0005942,,,,,,,"Bone Diseases, Endocrine",MeSH ID:D001849,,,, +BMGC_DS00294,BMG_DS000387,,UMLS ID:C0005944,,,,,metabolic bone disorder,MONDO:0800486,,,,,, +BMGC_DS00295,BMG_DS000388,Bone Marrow Diseases,UMLS ID:C0005956,,,,,,,Bone Marrow Diseases,MeSH ID:D001855,bone marrow disease,DOID:4961,, +BMGC_DS00296,BMG_DS000389,,UMLS ID:C0005967,,,,,,,,,bone cancer,DOID:184,, +BMGC_DS00297,BMG_DS000390,,UMLS ID:C0005974,,,,,bone resorption disease,MONDO:0000837,,,,,, +BMGC_DS00298,BMG_DS000392,,UMLS ID:C0006012,,,,,borderline personality disorder,MONDO:0001156,,,borderline personality disorder,DOID:10930,, +BMGC_DS00299,BMG_DS000393,Bordetella Infections,UMLS ID:C0006015,,,,,bordetellosis,MONDO:0037872,Bordetella Infections,MeSH ID:D001885,pertussis,DOID:1116,, +BMGC_DS00300,BMG_DS000394,Borna Disease,UMLS ID:C0006023,,,,,borna disease,MONDO:0005676,Borna Disease,MeSH ID:D001890,borna disease,DOID:5154,, +BMGC_DS00301,BMG_DS000397,,UMLS ID:C0006057,,,,,botulism,MONDO:0005498,,,botulism,DOID:11976,, +BMGC_DS00302,BMG_DS000398,Boutonneuse Fever,UMLS ID:C0006060,,,,,boutonneuse fever,MONDO:0024472,Boutonneuse Fever,MeSH ID:D001907,boutonneuse fever,DOID:14095,, +BMGC_DS00303,BMG_DS000400,,UMLS ID:C0006079,,,,,Bowen disease of the skin,MONDO:0020761,,,,,, +BMGC_DS00304,BMG_DS000401,Brachial plexus lesion,UMLS ID:C0006091,Brachial plexus lesion | Brachial plexus neuropathy | Brachial plexus disorder | BPN - Brachial plexus neuropathy | Brachial plexus disorder (disorder),SNOMEDCT ID:3548001,,,brachial plexus neuropathy from injury,MONDO:0004569,,,brachial plexus lesion,DOID:8443,, +BMGC_DS00305,BMG_DS000402,Brain Abscess,UMLS ID:C0006105,,,,,,,Brain Abscess,MeSH ID:D001922,,,, +BMGC_DS00306,BMG_DS000403,"Brain Damage, Chronic",UMLS ID:C0006109,,,,,,,"Brain Damage, Chronic",MeSH ID:D001925,,,, +BMGC_DS00307,BMG_DS000404,Brain Diseases,UMLS ID:C0006111,,,,,brain disorder,MONDO:0005560,Brain Diseases,MeSH ID:D001927,brain disease,DOID:936,, +BMGC_DS00308,BMG_DS000405,"Brain Diseases, Metabolic",UMLS ID:C0006112,,,,,,,"Brain Diseases, Metabolic",MeSH ID:D001928,,,, +BMGC_DS00309,BMG_DS000406,,UMLS ID:C0006114,,,,,brain edema,MONDO:0006684,,,,,, +BMGC_DS00310,BMG_DS000407,,UMLS ID:C0006118,,,,,brain neoplasm,MONDO:0021211,,,brain cancer,DOID:1319,, +BMGC_DS00311,BMG_DS000408,Branch Retinal Artery Occlusion,UMLS ID:C0006123,,,,,branch retinal artery occlusion,MONDO:0001630,Retinal Artery Occlusion,MeSH ID:D015356,branch retinal artery occlusion,DOID:13094,, +BMGC_DS00312,BMG_DS000409,,UMLS ID:C0006142,,,,,breast cancer,MONDO:0007254,,,breast cancer,DOID:1612,, +BMGC_DS00313,BMG_DS000410,,UMLS ID:C0006144,,,,,breast cyst,MONDO:0001011,,,breast cyst,DOID:10350,, +BMGC_DS00314,BMG_DS000411,Breast Diseases,UMLS ID:C0006145,,,,,breast disorder,MONDO:0002657,Breast Diseases,MeSH ID:D001941,breast disease,DOID:3463,, +BMGC_DS00315,BMG_DS000413,Brill-Zinsser Disease,UMLS ID:C0006181,,,,,Brill-Zinsser disease,MONDO:0005680,"Typhus, Epidemic Louse-Borne",MeSH ID:D014438,Brill-Zinsser disease,DOID:11254,, +BMGC_DS00316,BMG_DS000415,Bronchial Diseases,UMLS ID:C0006261,,,,,bronchial disorder,MONDO:0001358,Bronchial Diseases,MeSH ID:D001982,bronchial disease,DOID:1176,, +BMGC_DS00317,BMG_DS000416,,UMLS ID:C0006264,,,,,bronchial neoplasm,MONDO:0002807,,,bronchial benign neoplasm,DOID:3906,, +BMGC_DS00318,BMG_DS000417,Bronchospasm,UMLS ID:C0006266,(Bronchospasm) or (O/E - rhonchi (& present)) | Bronchospasm | O/E - rhonchi | O/E - rhonchi present | (Bronchospasm) or (O/E - rhonchi (& present)) (finding) | Bronchospasm | Bronchospasm (disorder) | Bronchospasm | Bronchial spasm | Bronchospasm (finding),SNOMEDCT ID:269012003 | SNOMEDCT ID:140179000 | SNOMEDCT ID:196175000 | SNOMEDCT ID:4386001,,,,,Bronchial Spasm,MeSH ID:D001986,,,,OMIM ID:MTHU001731 +BMGC_DS00319,BMG_DS000418,Bronchiectasis,UMLS ID:C0006267,Bronchiectasis | Bronchiectasis (disorder),SNOMEDCT ID:155580000 | SNOMEDCT ID:12295008,,,bronchiectasis,MONDO:0004822,Bronchiectasis,MeSH ID:D001987,bronchiectasis,DOID:9563,ICD10 ID:J47,OMIM ID:MTHU037263 +BMGC_DS00320,BMG_DS000419,Bronchiolitis,UMLS ID:C0006271,Bronchiolitis | Bronchiolitis (disorder),SNOMEDCT ID:4120002,,,bronchiolitis,MONDO:0002465,Bronchiolitis,MeSH ID:D001988,bronchiolitis,DOID:2942,,OMIM ID:MTHU004683 +BMGC_DS00321,BMG_DS000420,Bronchiolitis Obliterans,UMLS ID:C0006272,,,,,bronchiolitis obliterans syndrome,MONDO:0015265,Bronchiolitis Obliterans,MeSH ID:D001989,bronchiolitis obliterans,DOID:2799,, +BMGC_DS00322,BMG_DS000421,"Bronchiolitis, Viral",UMLS ID:C0006274,,,,,,,"Bronchiolitis, Viral",MeSH ID:D001990,,,, +BMGC_DS00323,BMG_DS000422,Bronchitis,UMLS ID:C0006277,Bronchitis | Bronchitis (disorder),SNOMEDCT ID:32398004,,,bronchitis,MONDO:0003781,Bronchitis,MeSH ID:D001991,bronchitis,DOID:6132,,OMIM ID:MTHU004684 +BMGC_DS00324,BMG_DS000424,Bronchopneumonia,UMLS ID:C0006285,Bronchopneumonia (disorder) | Bronchopneumonia | Bronchial pneumonia | Lobular pneumonia | Bronchopneumonia | Bronchopneumonia (disorder) | Bronchopneumonia | Lobular pneumonia | Segmental pneumonia | Bronchial pneumonia | Bronchopneumonia (disorder) | Bilateral bronchopneumonia,SNOMEDCT ID:396285007 | SNOMEDCT ID:155551009 | SNOMEDCT ID:67814005,,,bronchopneumonia,MONDO:0005682,Bronchopneumonia,MeSH ID:D001996,bronchopneumonia,DOID:12375,, +BMGC_DS00325,BMG_DS000425,Bronchopulmonary Dysplasia,UMLS ID:C0006287,,,,,bronchopulmonary dysplasia,MONDO:0019091,Bronchopulmonary Dysplasia,MeSH ID:D001997,bronchopulmonary dysplasia,DOID:11650,, +BMGC_DS00326,BMG_DS000426,Brucellosis,UMLS ID:C0006309,Brucellosis | Malta fever | Mediterranean fever | Undulant fever | Brucellosis (disorder) | Cyprus fever | Rock fever | Gibraltar fever | Brucellosis | Brucellosis (disorder),SNOMEDCT ID:75702008 | SNOMEDCT ID:154296006,,,brucellosis,MONDO:0005683,Brucellosis,MeSH ID:D002006,brucellosis,DOID:11077,ICD10 ID:A23, +BMGC_DS00327,BMG_DS000427,,UMLS ID:C0006325,,,,,bruxism,MONDO:0002443,,,bruxism,DOID:2846,, +BMGC_DS00328,BMG_DS000428,,UMLS ID:C0006370,,,,,,,,,bulimia nervosa,DOID:12129,, +BMGC_DS00329,BMG_DS000429,Bundle-Branch Block,UMLS ID:C0006384,,,,,,,Bundle-Branch Block,MeSH ID:D002037,,,, +BMGC_DS00330,BMG_DS000430,Bunostomiasis,UMLS ID:C0006389,,,,,,,Hookworm Infections,MeSH ID:D006725,,,, +BMGC_DS00331,BMG_DS000433,,UMLS ID:C0006413,,,,,Burkitt lymphoma,MONDO:0007243,,,Burkitt lymphoma,DOID:8584,,OMIM ID:113970 +BMGC_DS00332,BMG_DS000435,Burning Mouth Syndrome,UMLS ID:C0006430,,,,,burning mouth syndrome,MONDO:0006687,Burning Mouth Syndrome,MeSH ID:D002054,burning mouth syndrome,DOID:4331,, +BMGC_DS00333,BMG_DS000436,Bursitis,UMLS ID:C0006444,Bursitis | Bursitis (disorder) | Inflammation of bursa | Bursitis | Bursitis (disorder),SNOMEDCT ID:84017003 | SNOMEDCT ID:156677003,,,bursitis,MONDO:0002471,Bursitis,MeSH ID:D002062,bursitis,DOID:2965,, +BMGC_DS00334,BMG_DS000437,Byssinosis,UMLS ID:C0006542,(Asbestosis) or (byssinosis) or (pleural plaque disease) | Pleural plaque disease | Asbestosis | Byssinosis | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | Byssinosis | Asbestosis | Pleural plaque disease | (Asbestosis) or (byssinosis) or (pleural plaque disease) | (Asbestosis) or (byssinosis) or (pleural plaque disease) (disorder) | Byssinosis | Cotton workers' lung disease | Cotton-dust asthma | Byssinosis (disorder) | Mill fever,SNOMEDCT ID:155589004 | SNOMEDCT ID:266400008 | SNOMEDCT ID:85761009,Byssinosis due to exposure to cotton,ICD11 ID:CA80.0,byssinosis,MONDO:0006688,Byssinosis,MeSH ID:D002095,byssinosis,DOID:10323,ICD10 ID:J66.0, +BMGC_DS00335,BMG_DS000438,,UMLS ID:C0006663,,,,,calcinosis,MONDO:0002123,,,calcinosis,DOID:182,, +BMGC_DS00336,BMG_DS000440,Calciphylaxis,UMLS ID:C0006666,Calciphylaxis | Calciphylaxis (disorder),SNOMEDCT ID:237900002,,,calciphylaxis,MONDO:0017215,Calciphylaxis,MeSH ID:D002115,calciphylaxis,DOID:4734,, +BMGC_DS00337,BMG_DS000441,Calcium Metabolism Disorders,UMLS ID:C0006705,,,,,calcium metabolic disease,MONDO:0005557,Calcium Metabolism Disorders,MeSH ID:D002128,calcium metabolism disease,DOID:10575,, +BMGC_DS00338,BMG_DS000442,,UMLS ID:C0006739,,,,,,,,,cholelithiasis,DOID:10211,, +BMGC_DS00339,BMG_DS000445,,UMLS ID:C0006818,,,,,campylobacteriosis,MONDO:0005688,,,campylobacteriosis,DOID:13622,, +BMGC_DS00340,BMG_DS000446,,UMLS ID:C0006826,,,,,cancer,MONDO:0004992,,,cancer,DOID:162,, +BMGC_DS00341,BMG_DS000447,Candidiasis,UMLS ID:C0006840,Candidiasis | Candidiasis (disorder) | Candidiasis | Moniliasis | Candidosis | Monilia infection | Candida infection | Thrush | Candidiasis (disorder) | Infection by Candida | Candidiasis | Moniliasis | Thrush | Candidosis | Candida infection | Monilia infection | Candidiasis (disorder),SNOMEDCT ID:154403005 | SNOMEDCT ID:78048006 | SNOMEDCT ID:187005005,,,candidiasis,MONDO:0002026,Candidiasis,MeSH ID:D002177,candidiasis,DOID:1508,ICD10 ID:B37,OMIM ID:MTHU042170 +BMGC_DS00342,BMG_DS000448,Candidiasis of skin and nails,UMLS ID:C0006842,Candidiasis of skin and nails | Candidiasis of skin and nails (disorder),SNOMEDCT ID:187014000,,,,,,,candidal paronychia,DOID:14512,, +BMGC_DS00343,BMG_DS000449,"Candidiasis, Chronic Mucocutaneous",UMLS ID:C0006845,,,,,chronic mucocutaneous candidiasis,MONDO:0015279,"Candidiasis, Chronic Mucocutaneous",MeSH ID:D002178,chronic mucocutaneous candidiasis,DOID:2058,, +BMGC_DS00344,BMG_DS000450,,UMLS ID:C0006846,,,,,cutaneous candidiasis,MONDO:0000879,,,,,, +BMGC_DS00345,BMG_DS000451,Mucocutaneous candidiasis,UMLS ID:C0006848,Mucocutaneous candidiasis | Mucocutaneous candidiasis (disorder) | Candida infection of skin and mucous membranes,SNOMEDCT ID:29147005,,,,,,,,,,OMIM ID:MTHU014262 +BMGC_DS00346,BMG_DS000452,Oral candidiasis,UMLS ID:C0006849,Candidiasis of mouth | Mycotic stomatitis | Oral candidiasis | Oral thrush | Oral moniliasis | Oral candidosis | Candidosis of mouth | Candida infection of mouth | Moniliasis of mouth | Candidiasis of mouth (disorder) | Candida of mouth | Oral candidiasis | Oral candidiasis (disorder) | Oral candidiasis | Oral moniliasis | Pharyngeal candidiasis | Candidiasis: [oral and oesophagus] or [pharyngeal] | Candidiasis: [oral and esophagus] or [pharyngeal] | Candidiasis of mouth and esophagus | Monilia of mouth and esophagus | Thrush of mouth and esophagus | Monilia of mouth and oesophagus | Candidiasis of mouth and oesophagus | Thrush of mouth and oesophagus | Candidiasis: [oral and oesophagus] or [pharyngeal] (disorder),SNOMEDCT ID:79740000 | SNOMEDCT ID:367093001 | SNOMEDCT ID:187006006,,,oral candidiasis,MONDO:0005886,,,oral candidiasis,DOID:14262,,OMIM ID:MTHU017529 +BMGC_DS00347,BMG_DS000453,Candidiasis of vagina,UMLS ID:C0006852,Candidiasis of vagina | Vaginal candidiasis | Candidiasis of vagina (disorder) | Vaginal thrush | Vaginal candidosis | Vaginal candida | Monilial infection of vagina | Candida of vagina,SNOMEDCT ID:72934000,,,,,,,,,, +BMGC_DS00348,BMG_DS000455,,UMLS ID:C0006868,,,,,,,,,cannabis abuse,DOID:9505,, +BMGC_DS00349,BMG_DS000456,,UMLS ID:C0006870,,,,,cannabis dependence,MONDO:0005689,,,cannabis dependence,DOID:1849,, +BMGC_DS00350,BMG_DS000457,,UMLS ID:C0006895,,,,,Capgras syndrome,MONDO:0003965,,,Capgras syndrome,DOID:6680,, +BMGC_DS00351,BMG_DS000458,Capillariasis,UMLS ID:C0006897,Capillaria infection | Capillariasis | Capillariosis | Capillaria infection (disorder),SNOMEDCT ID:52979002,,,Enoplea infectious disease | capillariasis,MONDO:0001532;MONDO:0005745,Enoplida Infections,MeSH ID:D017189,capillariasis,DOID:12474,, +BMGC_DS00352,BMG_DS000461,Caplan Syndrome,UMLS ID:C0006915,,,,,Caplan syndrome,MONDO:0005690,Caplan Syndrome,MeSH ID:D002205,Caplan's syndrome,DOID:10326,, +BMGC_DS00353,BMG_DS000462,"Carbohydrate Metabolism, Inborn Errors",UMLS ID:C0007001,,,,,inborn carbohydrate metabolic disorder,MONDO:0019214,"Carbohydrate Metabolism, Inborn Errors",MeSH ID:D002239,carbohydrate metabolic disorder,DOID:2978,, +BMGC_DS00354,BMG_DS000464,,UMLS ID:C0007079,,,,,,,,,carbuncle,DOID:2176,, +BMGC_DS00355,BMG_DS000467,,UMLS ID:C0007097,,,,,carcinoma,MONDO:0004993,,,carcinoma,DOID:305,, +BMGC_DS00356,BMG_DS000468,,UMLS ID:C0007099,,,,,in situ carcinoma,MONDO:0004647,,,in situ carcinoma,DOID:8719,, +BMGC_DS00357,BMG_DS000469,,UMLS ID:C0007102,,,,,malignant colon neoplasm,MONDO:0021063,,,colon cancer,DOID:219,, +BMGC_DS00358,BMG_DS000470,,UMLS ID:C0007103,,,,,endometrial cancer,MONDO:0011962,,,endometrial cancer,DOID:1380,,OMIM ID:608089 +BMGC_DS00359,BMG_DS000471,,UMLS ID:C0007104,,,,,female breast carcinoma,MONDO:0004379,,,female breast carcinoma,DOID:7843,, +BMGC_DS00360,BMG_DS000472,,UMLS ID:C0007107,,,,,larynx cancer,MONDO:0002352,,,larynx cancer,DOID:2596,, +BMGC_DS00361,BMG_DS000473,,UMLS ID:C0007112,,,,,prostate adenocarcinoma,MONDO:0005082,,,prostate adenocarcinoma,DOID:2526,, +BMGC_DS00362,BMG_DS000474,,UMLS ID:C0007113,,,,,rectal carcinoma,MONDO:0044937,,,rectum cancer,DOID:1993,, +BMGC_DS00363,BMG_DS000475,,UMLS ID:C0007114,,,,,skin cancer,MONDO:0002898,,,skin cancer,DOID:4159,, +BMGC_DS00364,BMG_DS000476,,UMLS ID:C0007115,,,,,thyroid cancer,MONDO:0002108,,,thyroid cancer,DOID:1781,, +BMGC_DS00365,BMG_DS000477,,UMLS ID:C0007117,,,,,basal cell carcinoma,MONDO:0020804,,,basal cell carcinoma,DOID:2513,, +BMGC_DS00366,BMG_DS000478,,UMLS ID:C0007118,,,,,basosquamous carcinoma,MONDO:0003264,,,basosquamous carcinoma,DOID:5063,, +BMGC_DS00367,BMG_DS000479,,UMLS ID:C0007120,,,,,minimally invasive lung adenocarcinoma,MONDO:0004991,,,bronchiolo-alveolar adenocarcinoma,DOID:4926,, +BMGC_DS00368,BMG_DS000480,,UMLS ID:C0007121,,,,,bronchogenic carcinoma,MONDO:0002806,,,bronchus carcinoma,DOID:3904,, +BMGC_DS00369,BMG_DS000481,,UMLS ID:C0007124,,,,,ductal breast carcinoma in situ,MONDO:0005023,,,,,, +BMGC_DS00370,BMG_DS000482,,UMLS ID:C0007125,,,,,Ehrlich tumor carcinoma,MONDO:0006739,,,Ehrlich tumor carcinoma,DOID:5050,, +BMGC_DS00371,BMG_DS000484,,UMLS ID:C0007129,,,,,cutaneous neuroendocrine carcinoma,MONDO:0019210,,,,,, +BMGC_DS00372,BMG_DS000485,,UMLS ID:C0007130,,,,,mucinous adenocarcinoma,MONDO:0004957,,,mucinous adenocarcinoma,DOID:3030,, +BMGC_DS00373,BMG_DS000486,,UMLS ID:C0007131,,,,,non-small cell lung carcinoma,MONDO:0005233,,,lung non-small cell carcinoma,DOID:3908,, +BMGC_DS00374,BMG_DS000487,,UMLS ID:C0007133,,,,,papillary carcinoma,MONDO:0006509,,,papillary carcinoma,DOID:3113,, +BMGC_DS00375,BMG_DS000488,,UMLS ID:C0007134,,,,,renal cell carcinoma,MONDO:0005086,,,renal cell carcinoma,DOID:4450,, +BMGC_DS00376,BMG_DS000489,,UMLS ID:C0007135,,,,,scirrhous adenocarcinoma,MONDO:0005953,,,scirrhous adenocarcinoma,DOID:4024,, +BMGC_DS00377,BMG_DS000490,,UMLS ID:C0007137,,,,,squamous cell carcinoma,MONDO:0005096,,,squamous cell carcinoma,DOID:1749,, +BMGC_DS00378,BMG_DS000491,,UMLS ID:C0007138,,,,,transitional cell carcinoma,MONDO:0006474,,,transitional cell carcinoma,DOID:2671,, +BMGC_DS00379,BMG_DS000492,,UMLS ID:C0007140,,,,,carcinosarcoma,MONDO:0002928,,,carcinosarcoma,DOID:4236,, +BMGC_DS00380,BMG_DS000493,Cardiac Tamponade,UMLS ID:C0007177,,,,,cardiac tamponade,MONDO:0001297,Cardiac Tamponade,MeSH ID:D002305,cardiac tamponade,DOID:115,, +BMGC_DS00381,BMG_DS000494,"Cardiomyopathy, Alcoholic",UMLS ID:C0007192,,,,,alcoholic cardiomyopathy,MONDO:0006643,"Cardiomyopathy, Alcoholic",MeSH ID:D002310,alcoholic cardiomyopathy,DOID:12935,, +BMGC_DS00382,BMG_DS000495,"Cardiomyopathy, Dilated",UMLS ID:C0007193,,,,,dilated cardiomyopathy,MONDO:0005021,"Cardiomyopathy, Dilated",MeSH ID:D002311,dilated cardiomyopathy,DOID:12930,, +BMGC_DS00383,BMG_DS000496,Hypertrophic Cardiomyopathy,UMLS ID:C0007194,,,,,hypertrophic cardiomyopathy,MONDO:0005045,"Cardiomyopathy, Hypertrophic",MeSH ID:D002312,hypertrophic cardiomyopathy,DOID:11984,, +BMGC_DS00384,BMG_DS000497,Restrictive cardiomyopathy,UMLS ID:C0007196,Restrictive cardiomyopathy | Restrictive cardiomyopathy (disorder) | Restrictive cardiomyopathy (disorder) | Restrictive cardiomyopathy | Constrictive cardiomyopathy | Primary restrictive cardiomyopathy | Primary restrictive cardiomyopathy (disorder),SNOMEDCT ID:389996009 | SNOMEDCT ID:415295002 | SNOMEDCT ID:90828009,,,restrictive cardiomyopathy,MONDO:0005201,,,restrictive cardiomyopathy,DOID:397,,OMIM ID:MTHU002870 +BMGC_DS00385,BMG_DS000498,Cardiovascular Diseases,UMLS ID:C0007222,,,,,cardiovascular disorder,MONDO:0004995,Cardiovascular Diseases,MeSH ID:D002318,cardiovascular system disease,DOID:1287,, +BMGC_DS00386,BMG_DS000499,Carotid Artery Diseases,UMLS ID:C0007273,,,,,carotid artery disorder,MONDO:0005269,Carotid Artery Diseases,MeSH ID:D002340,carotid artery disease,DOID:3407,, +BMGC_DS00387,BMG_DS000500,Carotid Artery Thrombosis,UMLS ID:C0007274,,,,,carotid artery thrombosis,MONDO:0006690,Carotid Artery Thrombosis,MeSH ID:D002341,carotid artery thrombosis,DOID:3410,, +BMGC_DS00388,BMG_DS000502,Carotid Stenosis,UMLS ID:C0007282,,,,,carotid stenosis,MONDO:0001612,Carotid Stenosis,MeSH ID:D016893,carotid stenosis,DOID:13001,, +BMGC_DS00389,BMG_DS000504,Carpal Tunnel Syndrome,UMLS ID:C0007286,,,,,carpal tunnel syndrome,MONDO:0007275,Carpal Tunnel Syndrome,MeSH ID:D002349,carpal tunnel syndrome,DOID:12169,, +BMGC_DS00390,BMG_DS000505,Carsickness,UMLS ID:C0007297,,,,,,,Motion Sickness,MeSH ID:D009041,,,, +BMGC_DS00391,BMG_DS000506,Cartilage Diseases,UMLS ID:C0007302,,,,,obsolete cartilage disease,MONDO:0005569,Cartilage Diseases,MeSH ID:D002357,cartilage disease,DOID:1222,, +BMGC_DS00392,BMG_DS000507,Cat Diseases,UMLS ID:C0007350,,,,,cat disease,MONDO:0024912,Cat Diseases,MeSH ID:D002371,,,, +BMGC_DS00393,BMG_DS000508,Cat-Scratch Disease,UMLS ID:C0007361,,,,,cat-scratch disease,MONDO:0005692,Cat-Scratch Disease,MeSH ID:D002372,cat-scratch disease,DOID:11258,, +BMGC_DS00394,BMG_DS000509,Cataplexy,UMLS ID:C0007384,Cataplexy | Cataplexy (disorder),SNOMEDCT ID:46263000,,,,,Cataplexy,MeSH ID:D002385,,,,OMIM ID:MTHU003011 +BMGC_DS00395,BMG_DS000511,,UMLS ID:C0007398,,,,,catatonia,MONDO:0800105,,,,,, +BMGC_DS00396,BMG_DS000512,Cattle Diseases,UMLS ID:C0007453,,,,,cattle disease,MONDO:0024913,Cattle Diseases,MeSH ID:D002418,,,, +BMGC_DS00397,BMG_DS000514,Causalgia,UMLS ID:C0007462,"Causalgia | Complex regional pain syndrome type II | CRPS - Complex regional pain syndrome type II | Deafferentation pain | Causalgia (disorder) | Causalgia | Causalgia (finding) | Complex regional pain syndrome, type II (disorder) | Complex regional pain syndrome, type II | Deafferentation pain | CRPS - Complex regional pain syndrome type II | Complex regional pain syndrome type II | Causalgia | Other mononeuritis upper limb &/or causalgia | Causalgia | Other upper limb mononeuritis | Other mononeuritis -upper limb | Other mononeuritis upper limb &/or causalgia (disorder) | Other mononeuritis upper limb &/or causalgia | Other mononeuritis -upper limb | Causalgia | Other upper limb mononeuritis | Other mononeuritis upper limb &/or causalgia (disorder)",SNOMEDCT ID:66056001 | SNOMEDCT ID:247397004 | SNOMEDCT ID:408751001 | SNOMEDCT ID:267705008 | SNOMEDCT ID:155074001,,,complex regional pain syndrome type 2,MONDO:0020572,Causalgia,MeSH ID:D002422,causalgia,DOID:3222,, +BMGC_DS00398,BMG_DS000515,Cecal Diseases,UMLS ID:C0007527,,,,,cecal disorder,MONDO:0002031,Cecal Diseases,MeSH ID:D002429,cecal disease,DOID:1518,, +BMGC_DS00399,BMG_DS000516,,UMLS ID:C0007528,,,,,cecal neoplasm,MONDO:0005694,,,cecal benign neoplasm,DOID:1517,, +BMGC_DS00400,BMG_DS000517,Celiac Disease,UMLS ID:C0007570,,,,,celiac disease,MONDO:0005130,Celiac Disease,MeSH ID:D002446,celiac disease,DOID:10608,, +BMGC_DS00401,BMG_DS000518,Cellulitis,UMLS ID:C0007642,Cellulitis | Phlegmonous cellulitis | Phlegmon | Cellulitis (morphologic abnormality) | Cellulitis (morphologic abnormality) | Cellulitis | Cellulitis | Cellulitis (disorder) | Cellulitis (disorder) | Cellulitis,SNOMEDCT ID:74276003 | SNOMEDCT ID:385627004 | SNOMEDCT ID:191132005 | SNOMEDCT ID:128045006,,,cellulitis,MONDO:0005230,Cellulitis,MeSH ID:D002481,cellulitis,DOID:3488,,OMIM ID:MTHU034281 +BMGC_DS00402,BMG_DS000519,,UMLS ID:C0007644,,,,,,,,,tinea unguium,DOID:13074,, +BMGC_DS00403,BMG_DS000521,Cellulitis of hand,UMLS ID:C0007646,Cellulitis of hand | Cellulitis - hand | Cellulitis of hand excluding finger | Cellulitis -hand -excl. finger | Cellulitis -hand (& -excl. finger) | Cellulitis -hand (& -excl. finger) (disorder) | Cellulitis -hand (& -excl. finger) | Cellulitis of hand excluding finger | Cellulitis - hand | Cellulitis of hand | Cellulitis -hand -excl. finger | Cellulitis -hand (& -excl. finger) (disorder) | Cellulitis of hand | Cellulitis of hand (disorder),SNOMEDCT ID:267833003 | SNOMEDCT ID:156313004 | SNOMEDCT ID:62837005,,,,,,,cellulitis,DOID:3488,, +BMGC_DS00404,BMG_DS000523,CNS disorder,UMLS ID:C0007682,CNS disorder (& H/O) or H/O: brain disorder | H/O: CNS disorder | H/O: brain disorder | CNS disorder | CNS disorder (& H/O) or H/O: brain disorder (disorder) | CNS disorder | CNS disorder (disorder) | CNS disorder (& H/O) or H/O: brain disorder | CNS disorder | H/O: CNS disorder | H/O: brain disorder | CNS disorder (& H/O) or H/O: brain disorder (disorder),SNOMEDCT ID:267144009 | SNOMEDCT ID:275539005 | SNOMEDCT ID:138748005,,,,,,,central nervous system disease,DOID:331,, +BMGC_DS00405,BMG_DS000524,Central Nervous System Infection,UMLS ID:C0007684,,,,,,,Central Nervous System Infections,MeSH ID:D002494,,,, +BMGC_DS00406,BMG_DS000525,Central Retinal Artery Occlusion,UMLS ID:C0007688,,,,,central retinal artery occlusion,MONDO:0001633,Retinal Artery Occlusion,MeSH ID:D015356,central retinal artery occlusion,DOID:13098,, +BMGC_DS00407,BMG_DS000528,Cerebellar Ataxia,UMLS ID:C0007758,,,,,cerebellar ataxia,MONDO:0000437,Cerebellar Ataxia,MeSH ID:D002524,cerebellar ataxia,DOID:0050753,, +BMGC_DS00408,BMG_DS000529,Cerebellar Diseases,UMLS ID:C0007760,,,,,cerebellar disorder,MONDO:0002427,Cerebellar Diseases,MeSH ID:D002526,cerebellar disease,DOID:2786,, +BMGC_DS00409,BMG_DS000530,Myoclonic Cerebellar Dyssynergia,UMLS ID:C0007761,,,,,,,Myoclonic Cerebellar Dyssynergia,MeSH ID:D002527,myoclonic cerebellar dyssynergia,DOID:12707,, +BMGC_DS00410,BMG_DS000531,,UMLS ID:C0007762,,,,,cerebellar neoplasm,MONDO:0002913,,,cerebellum cancer,DOID:4205,, +BMGC_DS00411,BMG_DS000532,Intracranial Aneurysm,UMLS ID:C0007766,,,,,,,Intracranial Aneurysm,MeSH ID:D002532,intracranial aneurysm,DOID:10941,, +BMGC_DS00412,BMG_DS000533,Intracranial Arteriosclerosis,UMLS ID:C0007771,,,,,intracranial arteriosclerosis,MONDO:0001632,Intracranial Arteriosclerosis,MeSH ID:D002537,intracranial arteriosclerosis,DOID:13097,, +BMGC_DS00413,BMG_DS000534,,UMLS ID:C0007772,,,,,,,,,arteriovenous malformations of the brain,DOID:0060688,, +BMGC_DS00414,BMG_DS000535,Cerebral arteritis,UMLS ID:C0007773,Cerebral arteritis | Cerebral arteritis (disorder),SNOMEDCT ID:28366008,,,cerebral arteritis,MONDO:0001277,,,cerebral arteritis,DOID:11390,, +BMGC_DS00415,BMG_DS000536,Cerebral Arterial Diseases,UMLS ID:C0007774,,,,,cerebral arterial disease,MONDO:0006693,Cerebral Arterial Diseases,MeSH ID:D002539,cerebral arterial disease,DOID:3527,, +BMGC_DS00416,BMG_DS000537,Cerebral Atherosclerosis,UMLS ID:C0007775,,,,,cerebral atherosclerosis,MONDO:0006694,Intracranial Arteriosclerosis,MeSH ID:D002537,cerebral atherosclerosis,DOID:12720,, +BMGC_DS00417,BMG_DS000538,Cerebral Embolism,UMLS ID:C0007780,,,,,,,Intracranial Embolism,MeSH ID:D020766,intracranial embolism,DOID:4372,, +BMGC_DS00418,BMG_DS000539,Intracranial Embolism and Thrombosis,UMLS ID:C0007781,,,,,,,Intracranial Embolism and Thrombosis,MeSH ID:D002542,,,, +BMGC_DS00419,BMG_DS000540,Cerebral Infarction,UMLS ID:C0007785,,,,,cerebral infarction,MONDO:0002679,Cerebral Infarction,MeSH ID:D002544,cerebral infarction,DOID:3526,, +BMGC_DS00420,BMG_DS000541,Brain Ischemia,UMLS ID:C0007786,,,,,,,Brain Ischemia,MeSH ID:D002545,brain ischemia,DOID:2316,, +BMGC_DS00421,BMG_DS000542,Transient Ischemic Attack,UMLS ID:C0007787,,,,,transient ischemic attack,MONDO:0005264,"Ischemic Attack, Transient",MeSH ID:D002546,transient cerebral ischemia,DOID:224,, +BMGC_DS00422,BMG_DS000543,Cerebral lipidosis,UMLS ID:C0007788,Cerebral lipidosis | Cerebral lipidosis (disorder),SNOMEDCT ID:16517004,,,,,,,cerebral lipidosis,DOID:10742,, +BMGC_DS00423,BMG_DS000544,Cerebral Palsy,UMLS ID:C0007789,,,,,cerebral palsy,MONDO:0006497,Cerebral Palsy,MeSH ID:D002547,cerebral palsy,DOID:1969,, +BMGC_DS00424,BMG_DS000545,Diffuse Cerebral Sclerosis of Schilder,UMLS ID:C0007795,,,,,Schilder disease,MONDO:0010085,Diffuse Cerebral Sclerosis of Schilder,MeSH ID:D002549,Balo concentric sclerosis,DOID:0060215,,OMIM ID:272100 +BMGC_DS00425,BMG_DS000546,,UMLS ID:C0007798,,,,,cerebral ventricle cancer,MONDO:0002682,,,cerebral ventricle cancer,DOID:3541,, +BMGC_DS00426,BMG_DS000547,Cerebrospinal meningitis,UMLS ID:C0007813,Meningococcal meningitis | Meningococcal meningitis (disorder) | Epidemic meningitis | Cerebrospinal meningitis | Meningococcal meningitis | Meningococcal meningitis (disorder) | Meningococcal cerebrospinal fever,SNOMEDCT ID:28476005 | SNOMEDCT ID:192644005,,,,,,,,,, +BMGC_DS00427,BMG_DS000550,Cerebrovascular Disorders,UMLS ID:C0007820,,,,,cerebrovascular disorder,MONDO:0011057,Cerebrovascular Disorders,MeSH ID:D002561,cerebrovascular disease,DOID:6713,, +BMGC_DS00428,BMG_DS000551,Certain types of iridocyclitis,UMLS ID:C0007832,Certain types of iridocyclitis | Certain types of iridocyclitis (disorder),SNOMEDCT ID:193496008,,,,,,,iridocyclitis,DOID:9383,, +BMGC_DS00429,BMG_DS000552,,UMLS ID:C0007847,,,,,,,,,cervical cancer,DOID:4362,, +BMGC_DS00430,BMG_DS000553,Cervical Migraine Syndrome,UMLS ID:C0007852,,,,,,,Migraine Disorders,MeSH ID:D008881,,,, +BMGC_DS00431,BMG_DS000556,Uterine Cervicitis,UMLS ID:C0007860,,,,,cervicitis,MONDO:0002345,Uterine Cervicitis,MeSH ID:D002575,cervicitis,DOID:2568,, +BMGC_DS00432,BMG_DS000557,,UMLS ID:C0007861,,,,,,,,,cervicitis,DOID:2568,, +BMGC_DS00433,BMG_DS000558,Cervico-Brachial Neuralgia,UMLS ID:C0007862,,,,,,,Brachial Plexus Neuritis,MeSH ID:D020968,,,, +BMGC_DS00434,BMG_DS000560,Cervix Diseases,UMLS ID:C0007867,,,,,cervix disorder,MONDO:0002256,Uterine Cervical Diseases,MeSH ID:D002577,cervix disease,DOID:2253,, +BMGC_DS00435,BMG_DS000562,Cervix Erosion,UMLS ID:C0007869,,,,,,,Uterine Cervical Erosion,MeSH ID:D002579,cervix erosion,DOID:3456,, +BMGC_DS00436,BMG_DS000564,,UMLS ID:C0007871,,,,,cervical incompetence,MONDO:0005698,,,cervical incompetence,DOID:9681,, +BMGC_DS00437,BMG_DS000565,,UMLS ID:C0007873,,,,,uterine cervix neoplasm,MONDO:0021230,,,cervical cancer,DOID:4362,, +BMGC_DS00438,BMG_DS000569,Meibomian Cyst,UMLS ID:C0007933,,,,,chalazion,MONDO:0005844,Chalazion,MeSH ID:D017043,meibomian cyst,DOID:9903,, +BMGC_DS00439,BMG_DS000570,,UMLS ID:C0007939,,,,,,,,,syphilis,DOID:4166,, +BMGC_DS00440,BMG_DS000572,Chancroid,UMLS ID:C0007947,Chancroid | Chancroid (disorder) | Angina - Vincents | Leptospirosis | Chancroid | Weil's disease | Yaws | Vincent's angina | Trench mouth | Lymphogranuloma venereum | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Other venereal/spirochaete dis | Other venereal/spirochaete disease | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | (Chancroid [& bubo]) or (Ducrey's chancre) | Ducrey's chancre | Chancroid | Chancroidal bubo | (Chancroid [& bubo]) or (Ducrey's chancre) (disorder) | Other venereal/spirochaete disease | Lymphogranuloma venereum | Leptospirosis | Chancroid | Yaws | Vincent's angina | Trench mouth | Angina - Vincents | Weil's disease | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Chancroid | Soft chancre - chancroid | Chancroidal bubo | Soft sore - chancroid | Ducrey's chancre | Chancroid (disorder),SNOMEDCT ID:87429008 | SNOMEDCT ID:154391003 | SNOMEDCT ID:186945008 | SNOMEDCT ID:266213004 | SNOMEDCT ID:266143009,,,chancroid,MONDO:0001797,Chancroid,MeSH ID:D002602,chancroid,DOID:13778,ICD10 ID:A57, +BMGC_DS00441,BMG_DS000573,Charcot-Marie-Tooth Disease,UMLS ID:C0007959,,,,,Charcot-Marie-Tooth disease,MONDO:0015626,Charcot-Marie-Tooth Disease,MeSH ID:D002607,Charcot-Marie-Tooth disease,DOID:10595,, +BMGC_DS00442,BMG_DS000574,Chediak-Higashi Syndrome,UMLS ID:C0007965,,,,,Chediak-Higashi syndrome,MONDO:0008963,Chediak-Higashi Syndrome,MeSH ID:D002609,Chediak-Higashi syndrome,DOID:2935,,OMIM ID:214500 +BMGC_DS00443,BMG_DS000576,Cheilitis,UMLS ID:C0007971,(Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) | Oral soft tissue disease NOS | Cheilitis | Mucocele of mouth | Canker | Oral soft tissue diseases NOS | Mucocele - mouth | (Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) (disorder) | (Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) | Canker | Oral soft tissue diseases NOS | Cheilitis | Mucocele of mouth | Oral soft tissue disease NOS | Mucocele - mouth | (Oral soft tissue diseases NOS) or (canker) or (cheilitis) or (mucocele of mouth) (disorder) | Cheilitis | Cheilitis (disorder),SNOMEDCT ID:155664000 | SNOMEDCT ID:266495008 | SNOMEDCT ID:196557006 | SNOMEDCT ID:7847004,,,cheilitis,MONDO:0002102,Cheilitis,MeSH ID:D002613,cheilitis,DOID:1762,,OMIM ID:MTHU068425 +BMGC_DS00444,BMG_DS000577,Cherubism,UMLS ID:C0008029,Fibrous dysplasia of jaw | Fibrous dysplasia of jaw (disorder) | Cherubism | Familial fibrous dysplasia of jaw | Cherubism | Familial fibrous dysplasia of jaw | Cherubism (disorder) | Familial multilocular cystic disease of the jaws,SNOMEDCT ID:76098004 | SNOMEDCT ID:53432004,,,cherubism,MONDO:0007315,Cherubism,MeSH ID:D002636,cherubism,DOID:1856,ICD10 ID:M27.8,OMIM ID:MTHU073148 | OMIM ID:118400 +BMGC_DS00445,BMG_DS000578,Chiari-Frommel Syndrome,UMLS ID:C0008043,,,,,postpartum amenorrhea-galactorrhea syndrome,MONDO:0043226,Chiari-Frommel Syndrome,MeSH ID:D002640,hyperprolactinemia,DOID:12700,, +BMGC_DS00446,BMG_DS000579,Chickenpox,UMLS ID:C0008049,Varicella infection (& [chickenpox]) | Chickenpox | Chickenpox - varicella | Varicella infection (& [chickenpox]) (disorder) | Varicella | Chickenpox | Varicella infection | Chicken pox | Varicella (disorder),SNOMEDCT ID:186508005 | SNOMEDCT ID:38907003,,,chickenpox,MONDO:0005700,Chickenpox,MeSH ID:D002644,chickenpox,DOID:8659,, +BMGC_DS00447,BMG_DS000580,Chikungunya Fever,UMLS ID:C0008055,,,,,chikungunya,MONDO:0017941,Chikungunya Fever,MeSH ID:D065632,,,, +BMGC_DS00448,BMG_DS000581,Child Nutrition Disorders,UMLS ID:C0008087,,,,,,,Child Nutrition Disorders,MeSH ID:D015362,,,, +BMGC_DS00449,BMG_DS000582,Glutamate Monosodium Sensitivity,UMLS ID:C0008127,,,,,monosodium glutamate sensitivity,MONDO:0009280,,MeSH ID:C562377,,,,OMIM ID:231630 +BMGC_DS00450,BMG_DS000583,Chlamydia Infections,UMLS ID:C0008149,,,,,chlamydia trachomatis infectious disease,MONDO:0005701,Chlamydia Infections,MeSH ID:D002690,,,, +BMGC_DS00451,BMG_DS000585,Asiderotic anemia,UMLS ID:C0008272,Deficiency anemiasm (& [asiderotic] or [sideropenic]) | Asiderotic anemia | Deficiency anemias | Sideropenic anemia | Deficiency anaemias | Sideropenic anaemia | Asiderotic anaemia | Deficiency anaemiasm (& [asiderotic] or [sideropenic]) | Deficiency anaemiasm (& [asiderotic] or [sideropenic]) (disorder) | Iron deficiency anemia | Asiderotic anemia | Chlorotic anemia | Sideropenic anemia | Iron deficiency anaemia | IDA - Iron deficiency anemia | Iron deficiency anemia syndrome | Asiderotic anaemia | IDA - Iron deficiency anaemia | Sideropenic anaemia | Iron deficiency anaemia syndrome | Chlorotic anaemia | Iron deficiency anemia (disorder),SNOMEDCT ID:191125001 | SNOMEDCT ID:87522002,,,,,,,,,, +BMGC_DS00452,BMG_DS000586,,UMLS ID:C0008297,,,,,choanal atresia,MONDO:0012155,,,choanal atresia,DOID:9574,,OMIM ID:608911 +BMGC_DS00453,BMG_DS000588,,UMLS ID:C0008309,,,,,bile duct adenoma,MONDO:0006108,,,bile duct adenoma,DOID:5381,, +BMGC_DS00454,BMG_DS000589,Cholangitis,UMLS ID:C0008311,Cholangitis | Cholangitis (disorder),SNOMEDCT ID:82403002 | SNOMEDCT ID:155831003,Cholangitis,ICD11 ID:DC13,cholangitis,MONDO:0004789,Cholangitis,MeSH ID:D002761,cholangitis,DOID:9446,ICD10 ID:K83.0,OMIM ID:MTHU036659 +BMGC_DS00455,BMG_DS000590,Primary Biliary Cholangitis,UMLS ID:C0008312,,,,,primary biliary cholangitis,MONDO:0005388,"Liver Cirrhosis, Biliary",MeSH ID:D008105,primary biliary cholangitis,DOID:12236,, +BMGC_DS00456,BMG_DS000591,"Cholangitis, Sclerosing",UMLS ID:C0008313,,,,,sclerosing cholangitis,MONDO:0018646,"Cholangitis, Sclerosing",MeSH ID:D015209,sclerosing cholangitis,DOID:14268,, +BMGC_DS00457,BMG_DS000592,Cholecystitis,UMLS ID:C0008325,Cholecystitis | Cholecystitis (disorder) | Inflamed gallbladder,SNOMEDCT ID:76581006,,,cholecystitis,MONDO:0002155,Cholecystitis,MeSH ID:D002764,cholecystitis,DOID:1949,ICD10 ID:K81,OMIM ID:MTHU009746 +BMGC_DS00458,BMG_DS000593,,UMLS ID:C0008340,,,,,bile duct cyst,MONDO:0018805,,,choledochal cyst,DOID:899,,OMIM ID:603003 +BMGC_DS00459,BMG_DS000594,Cholelithiasis,UMLS ID:C0008350,Biliary calculus | Biliary calculus (disorder) | Cholelithiasis (& calculus: [bile duct] or [cystic duct] or [gallbladder]) | Cholelithiasis | Bile duct calculus | Calculus - biliary | Gallstones | Gallbladder calculus | Cystic duct calculus | Stone - biliary | Gall stones (& [calculus - gall bladder]) | Stones - gall | Gallbladder calculus | Calculus - gall bladder | Gallstones | Cholelithiasis | Gallstones | Gallbladder calculus | Cholelithiasis | Calculus - gall bladder | Stones - gall | Gall stones (& [calculus - gall bladder]) | Biliary calculus | Cholelithiasis | CL - Cholelithiasis | Stone - biliary | Calculus - biliary | Calculus in biliary tract | Calculus in biliary tract (disorder),SNOMEDCT ID:44900007 | SNOMEDCT ID:197376000 | SNOMEDCT ID:266541001 | SNOMEDCT ID:155823008 | SNOMEDCT ID:266474003,,,cholelithiasis,MONDO:0012672,Cholelithiasis,MeSH ID:D002769,,,ICD10 ID:K80,OMIM ID:MTHU009745 | OMIM ID:611465 +BMGC_DS00460,BMG_DS000595,Cholera,UMLS ID:C0008354,Cholera | Cholera (disorder) | Vibrio cholerae infection | Cholera | Cholera (disorder) | Vibrio cholerae | Cholera | (Cholera) or (Vibrio cholerae) | (Cholera) or (Vibrio cholerae) (disorder),SNOMEDCT ID:63650001 | SNOMEDCT ID:154269008 | SNOMEDCT ID:186087007,,,cholera,MONDO:0015766,Cholera,MeSH ID:D002771,cholera,DOID:1498,ICD10 ID:A00, +BMGC_DS00461,BMG_DS000596,Cholestasis,UMLS ID:C0008370,Cholestasis | Bile stasis | Cholestasis (finding),SNOMEDCT ID:33688009,,,cholestasis,MONDO:0001751,Cholestasis,MeSH ID:D002779,cholestasis,DOID:13580,,OMIM ID:MTHU001311 +BMGC_DS00462,BMG_DS000597,Intrahepatic Cholestasis,UMLS ID:C0008372,,,,,intrahepatic cholestasis,MONDO:0019072,"Cholestasis, Intrahepatic",MeSH ID:D002780,intrahepatic cholestasis,DOID:1852,, +BMGC_DS00463,BMG_DS000598,Cholesteatoma,UMLS ID:C0008373,(Cholesteatoma middle ear) or (middle ear polyp) | Polyp of middle ear | Polyp - middle ear | Cholesteatoma | Cholesteatoma-polyp.-middle e. | (Cholesteatoma middle ear) or (middle ear polyp) (disorder) | Cholesteatoma | Epidermoid cholesteatoma | Cholesteatoma (morphologic abnormality) | Cholesteatoma | Cholesteatoma (disorder) | Cholesteatoma pearl | (Cholesteatoma middle ear) or (middle ear polyp) | Polyp of middle ear | Polyp - middle ear | Cholesteatoma-polyp.-middle e. | Cholesteatoma | (Cholesteatoma middle ear) or (middle ear polyp) (disorder),SNOMEDCT ID:267766007 | SNOMEDCT ID:575006 | SNOMEDCT ID:363668000 | SNOMEDCT ID:155244001,,,cholesteatoma,MONDO:0006530,Cholesteatoma,MeSH ID:D002781,cholesteatoma,DOID:869,,OMIM ID:MTHU063971 +BMGC_DS00464,BMG_DS000599,Cholesteatoma of middle ear and mastoid,UMLS ID:C0008374,Cholesteatoma of middle ear / mastoid | Cholesteatoma of middle ear and mastoid structure (disorder) | Cholesteatoma of middle ear and mastoid structure | Cholesteatoma of middle ear and mastoid | Cholesteatoma of middle ear and mastoid (disorder),SNOMEDCT ID:39911004 | SNOMEDCT ID:194339007,,,,,,,cholesteatoma of middle ear,DOID:10964,, +BMGC_DS00465,BMG_DS000600,Cholesterol Ester Storage Disease,UMLS ID:C0008384,,,,,cholesteryl ester storage disease,MONDO:0019149,Cholesterol Ester Storage Disease,MeSH ID:D015217,cholesterol ester storage disease,DOID:14502,,OMIM ID:278000 +BMGC_DS00466,BMG_DS000601,Choline Deficiency,UMLS ID:C0008412,,,,,choline deficiency disease,MONDO:0004575,Choline Deficiency,MeSH ID:D002796,choline deficiency disease,DOID:8456,, +BMGC_DS00467,BMG_DS000602,,UMLS ID:C0008441,,,,,chondroblastoma,MONDO:0004997,,,chondroblastoma,DOID:2649,, +BMGC_DS00468,BMG_DS000603,Chondrodysplasia Punctata,UMLS ID:C0008445,,,,,chondrodysplasia punctata,MONDO:0019701,Chondrodysplasia Punctata,MeSH ID:D002806,chondrodysplasia punctata,DOID:2581,, +BMGC_DS00469,BMG_DS000604,Congenital anomaly of cartilage,UMLS ID:C0008449,Congenital anomaly of cartilage | Chondrodystrophy | Abnormal development of cartilage | Congenital anomaly of cartilage (disorder),SNOMEDCT ID:67988000,,,cartilage development disorder,MONDO:0020779,,,osteochondrodysplasia,DOID:2256,, +BMGC_DS00470,BMG_DS000605,Chondromalacia Patellae,UMLS ID:C0008475,,,,,chondromalacia patellae,MONDO:0008207,Chondromalacia Patellae,MeSH ID:D046789,chondromalacia patellae,DOID:13357,,OMIM ID:168900 +BMGC_DS00471,BMG_DS000607,,UMLS ID:C0008479,,,,,chondrosarcoma,MONDO:0008977,,,chondrosarcoma,DOID:3371,,OMIM ID:215300 +BMGC_DS00472,BMG_DS000608,,UMLS ID:C0008487,,,,,chordoma,MONDO:0008978,,,chordoma,DOID:3302,,OMIM ID:215400 +BMGC_DS00473,BMG_DS000609,Chorea,UMLS ID:C0008489,Chorea | Chorea (disorder) | Chorea | Choreiform movement | Choreic movement | Chorea (disorder) | Choreiform disorder,SNOMEDCT ID:5027007 | SNOMEDCT ID:271700006,,,choreatic disease,MONDO:0001595,Chorea,MeSH ID:D002819,,,,OMIM ID:MTHU003622 +BMGC_DS00474,BMG_DS000611,Chorioamnionitis,UMLS ID:C0008495,Chorioamnionitis | Chorioamnionitis (disorder) | Amniotic cavity infection (& [membranitis] or [placentitis]) | Amnionitis | Membranitis | Placentitis | Amniotic cavity infection | Chorioamnionitis | Amniotic cavity infection (& [membranitis] or [placentitis]) (disorder) | Chorioamnionitis | Membranitis | Chorioamnionitis (disorder),SNOMEDCT ID:267263003 | SNOMEDCT ID:199675000 | SNOMEDCT ID:11612004,,,chorioamnionitis,MONDO:0000409,Chorioamnionitis,MeSH ID:D002821,chorioamnionitis,DOID:0050697,ICD10 ID:O41.12, +BMGC_DS00475,BMG_DS000612,,UMLS ID:C0008497,,,,,choriocarcinoma,MONDO:0005207,,,choriocarcinoma,DOID:3594,, +BMGC_DS00476,BMG_DS000613,,UMLS ID:C0008512,,,,,,,,,chorioretinal scar,DOID:11086,, +BMGC_DS00477,BMG_DS000614,Chorioretinitis,UMLS ID:C0008513,Photoretinitis | Chorioretinitis | Chorioretinitis (& photoretinitis) | Chorioretinitis (& photoretinitis) (disorder) | Chorioretinitis | Chorioretinal inflammation | Choroiditis and retinitis | Retinochoroiditis | Chorioretinitis (disorder),SNOMEDCT ID:270531006 | SNOMEDCT ID:46627006,,,chorioretinitis,MONDO:0004674,Chorioretinitis,MeSH ID:D002825,chorioretinitis,DOID:8886,,OMIM ID:MTHU058287 +BMGC_DS00478,BMG_DS000615,Choroid Diseases,UMLS ID:C0008521,,,,,,,Choroid Diseases,MeSH ID:D015862,choroid disease,DOID:1417,, +BMGC_DS00479,BMG_DS000616,,UMLS ID:C0008523,,,,,choroid neoplasm,MONDO:0021258,,,choroid cancer,DOID:12759,, +BMGC_DS00480,BMG_DS000617,Choroideremia,UMLS ID:C0008525,Choroideremia | Choroideraemia | Choroideremia (disorder) | Tapetochoroidal dystrophy,SNOMEDCT ID:75241009,,,choroideremia,MONDO:0010557,Choroideremia,MeSH ID:D015794,choroideremia,DOID:9821,ICD10 ID:H31.21,OMIM ID:303100 +BMGC_DS00481,BMG_DS000618,Choroiditis,UMLS ID:C0008526,Choroiditis | Choroiditis (disorder),SNOMEDCT ID:16553002,,,choroiditis,MONDO:0001280,Choroiditis,MeSH ID:D002833,choroiditis,DOID:11406,,OMIM ID:MTHU069070 +BMGC_DS00482,BMG_DS000619,Hemophilia B,UMLS ID:C0008533,Hemophilia B | Hereditary factor IX deficiency disease | Christmas disease | Sex-linked factor IX deficiency disease | PTC deficiency disease | Haemophilia B | Congenital factor IX deficiency | Hereditary factor IX deficiency disease (disorder),SNOMEDCT ID:41788008,,,hemophilia B,MONDO:0010604,Hemophilia B,MeSH ID:D002836,hemophilia B,DOID:12259,ICD10 ID:D67,OMIM ID:306900 +BMGC_DS00483,BMG_DS000620,Chromoblastomycosis,UMLS ID:C0008582,Chromoblastomycosis | Chromoblastomycosis (disorder) | Chromomycosis | Chromomycosis | Chromomycosis (disorder),SNOMEDCT ID:187079000 | SNOMEDCT ID:7255004,,,chromomycosis,MONDO:0015908,Chromoblastomycosis,MeSH ID:D002862,chromoblastomycosis,DOID:1562,, +BMGC_DS00484,BMG_DS000622,Congenital chromosomal disease,UMLS ID:C0008626,Chromosomopathy | Chromosomal abnormality syndrome | Chromosomal hereditary disorder | Chromosomal imbalance syndrome | Anomaly of chromosome | Congenital chromosomal disease | Congenital disorder due to abnormality of chromosome number OR structure (disorder) | Congenital disorder due to abnormality of chromosome number OR structure,SNOMEDCT ID:74345006,,,chromosomal disorder,MONDO:0019040,,,,,, +BMGC_DS00485,BMG_DS000623,"Bronchitis, Chronic",UMLS ID:C0008677,,,,,chronic bronchitis,MONDO:0005607,"Bronchitis, Chronic",MeSH ID:D029481,bronchitis,DOID:6132,, +BMGC_DS00486,BMG_DS000625,Cryptogenic pulmonary eosinophilia,UMLS ID:C0008680,Cryptogenic pulmonary eosinophilia | Chronic pulmonary eosinophilia | Cryptogenic pulmonary eosinophilia (disorder) | Idiopathic pulmonary eosinophilia | Cryptogenic eosinophilic pneumonitis | Chronic eosinophilic pneumonitis,SNOMEDCT ID:233692000,,,chronic eosinophilic pneumonia,MONDO:0004806,,,chronic eosinophilic pneumonia,DOID:9502,, +BMGC_DS00487,BMG_DS000626,Chronic ethmoidal sinusitis,UMLS ID:C0008681,"Chronic ethmoidal sinusitis | Chronic ethmoidal sinusitis (disorder) | Chronic ethmoiditis | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | Chronic pansinusitis | Chronic sinusitis NOS | Chronic ethmoidal sinusitis | Chronic sphenoidal sinusitis | Ethmoidal sinusitis - chronic | Pansinusitis, chronic | Sphenoidal sinus-chr. | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder) | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | Chronic pansinusitis | Sphenoidal sinus-chr. | Chronic sphenoidal sinusitis | Ethmoidal sinusitis - chronic | Chronic ethmoidal sinusitis | Pansinusitis, chronic | Chronic sinusitis NOS | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder)",SNOMEDCT ID:73237007 | SNOMEDCT ID:266384001 | SNOMEDCT ID:155528009,Ethmoid sinus | Other specified chronic rhinosinusitis,ICD11 ID:XA58F6 | ICD11 ID:CA0A.Y,chronic ethmoidal sinusitis,MONDO:0004757,,,chronic ethmoiditis,DOID:9312,ICD10 ID:J32.2, +BMGC_DS00488,BMG_DS000627,Chronic frontal sinusitis,UMLS ID:C0008683,Chronic frontal sinusitis | Chronic frontal sinusitis (disorder) | Chronic frontal sinusitis | Frontal sinusitis | Frontal sinusitis (& chronic) | Frontal sinusitis (& chronic) (disorder),SNOMEDCT ID:155527004 | SNOMEDCT ID:195786002 | SNOMEDCT ID:60130002,Frontal sinus | Other specified chronic rhinosinusitis,ICD11 ID:XA91G8 | ICD11 ID:CA0A.Y,chronic frontal sinusitis,MONDO:0001120,,,chronic frontal sinusitis,DOID:10790,ICD10 ID:J32.1, +BMGC_DS00489,BMG_DS000628,Chronic gingivitis,UMLS ID:C0008684,(Chronic gingivitis) or (gingivostomatitis) | Gingivostomatitis | Chronic gingivitis | (Chronic gingivitis) or (gingivostomatitis) (disorder) | Chronic gingivitis | Chronic gingivitis (disorder) | Gingivitis | Chronic gingivitis | Gingivitis (& [chronic]) | Gingivitis (& [chronic]) (disorder),SNOMEDCT ID:266490003 | SNOMEDCT ID:155644005 | SNOMEDCT ID:72621003 | SNOMEDCT ID:196355002,"Diseases or disorders of orofacial complex, unspecified",ICD11 ID:DA0Z,chronic gingivitis,MONDO:0020782,,,gingivitis,DOID:3087,ICD10 ID:K05.1, +BMGC_DS00490,BMG_DS000630,Chronic maxillary sinusitis,UMLS ID:C0008698,(Maxillary sinusitis) or (chronic antritis) | Chronic maxillary sinusitis | Antritis - chronic | Chronic antritis | Maxillary sinusitis | (Maxillary sinusitis) or (chronic antritis) (disorder) | Chronic maxillary sinusitis | Chronic maxillary sinusitis (disorder) | Chronic maxillary sinusitis | Chronic antritis | Chronic maxillary sinusitis (disorder),SNOMEDCT ID:195785003 | SNOMEDCT ID:155526008 | SNOMEDCT ID:35923002,Other specified chronic rhinosinusitis | Maxillary sinus,ICD11 ID:CA0A.Y | ICD11 ID:XA1R64,chronic maxillary sinusitis,MONDO:0001122,,,chronic maxillary sinusitis,DOID:10792,ICD10 ID:J32.0, +BMGC_DS00491,BMG_DS000631,,UMLS ID:C0008701,,,,,chronic tic disorder,MONDO:0001074,,,chronic tic disorder,DOID:10600,, +BMGC_DS00492,BMG_DS000632,Chronic osteomyelitis,UMLS ID:C0008707,(Osteomyelitis: [chronic] or [Garre's sclerosing]) or (Brodie's abscess) or (sequestrum of bone) | Chronic osteomyelitis | Garre's sclerosing osteomyelitis | Brodie's abscess | Sequestrum of bone | (Osteomyelitis: [chronic] or [Garre's sclerosing]) or (Brodie's abscess) or (sequestrum of bone) (disorder) | Chronic osteomyelitis | Chronic osteomyelitis (disorder),SNOMEDCT ID:203181001 | SNOMEDCT ID:156791003 | SNOMEDCT ID:40970001,,,,,,,osteomyelitis,DOID:1019,, +BMGC_DS00493,BMG_DS000633,Chronic rhinitis,UMLS ID:C0008711,Chronic rhinitis (& ozaena) | Chronic rhinitis | Ozena | Ozaena | Rhinitis - chronic | Chronic rhinitis (& ozaena) (disorder) | (Chronic rhinitis) or (catarrh unspecified) | Chronic rhinitis | Catarrh unspecified | (Chronic rhinitis) or (catarrh unspecified) (disorder) | Chronic rhinitis | Chronic rhinitis (disorder) | Chronic rhinitis | Rhinitis - chronic | Ozena | Ozaena | Chronic rhinitis (& ozaena) | Chronic rhinitis (& ozaena) (disorder),SNOMEDCT ID:270532004 | SNOMEDCT ID:195764003 | SNOMEDCT ID:86094006 | SNOMEDCT ID:155522005,Chronic rhinitis,ICD11 ID:CA09.0,chronic rhinitis,MONDO:0004514,,,chronic rhinitis,DOID:8252,ICD10 ID:J31.0,OMIM ID:MTHU039707 +BMGC_DS00494,BMG_DS000634,Chronic sphenoidal sinusitis,UMLS ID:C0008712,"Chronic sphenoidal sinusitis | Chronic sphenoidal sinusitis (disorder) | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | Chronic pansinusitis | Chronic sinusitis NOS | Chronic ethmoidal sinusitis | Chronic sphenoidal sinusitis | Ethmoidal sinusitis - chronic | Pansinusitis, chronic | Sphenoidal sinus-chr. | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder) | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] | Chronic pansinusitis | Sphenoidal sinus-chr. | Chronic sphenoidal sinusitis | Ethmoidal sinusitis - chronic | Chronic ethmoidal sinusitis | Pansinusitis, chronic | Chronic sinusitis NOS | Chronic sinusitis: [NOS] or [ethmoidal] or [chronic pansinusitis] or [sphenoidal] (disorder)",SNOMEDCT ID:38961000 | SNOMEDCT ID:266384001 | SNOMEDCT ID:155528009,Sphenoid sinus | Other specified chronic rhinosinusitis,ICD11 ID:XA4U67 | ICD11 ID:CA0A.Y,chronic sphenoidal sinusitis,MONDO:0001123,,,chronic sphenoidal sinusitis,DOID:10793,ICD10 ID:J32.3, +BMGC_DS00495,BMG_DS000635,Chronically Ill,UMLS ID:C0008715,,,,,,,Chronic Disease,MeSH ID:D002908,,,, +BMGC_DS00496,BMG_DS000636,Eosinophilic granulomatosis with polyangiitis,UMLS ID:C0008728,Allergic granulomatosis angiitis | Churg-Strauss syndrome | Allergic granulomatosis angiitis (disorder) | Allergic granulomatous angiitis | CSS - Churg-Strauss syndrome | Churg Strauss syndrome | Eosinophilic granulomatosis with polyangiitis | EGPA - eosinophilic granulomatosis with polyangiitis,SNOMEDCT ID:82275008,,,eosinophilic granulomatosis with polyangiitis,MONDO:0015943,,,Churg-Strauss syndrome,DOID:3049,, +BMGC_DS00497,BMG_DS000637,Chylous Ascites,UMLS ID:C0008732,,,,,chylous ascites,MONDO:0008829,Chylous Ascites,MeSH ID:D002915,,,,OMIM ID:208300 +BMGC_DS00498,BMG_DS000638,Chylothorax,UMLS ID:C0008733,Chylothorax | Chylothorax (disorder),SNOMEDCT ID:83035003 | SNOMEDCT ID:196093002,,,,,Chylothorax,MeSH ID:D002916,,,,OMIM ID:MTHU009832 +BMGC_DS00499,BMG_DS000639,Ciliary Motility Disorders,UMLS ID:C0008780,,,,,primary ciliary dyskinesia,MONDO:0016575,Ciliary Motility Disorders,MeSH ID:D002925,primary ciliary dyskinesia,DOID:9562,, +BMGC_DS00500,BMG_DS000640,Cirrhosis of liver without mention of alcohol,UMLS ID:C0008827,Cirrhosis of liver | Hepatic cirrhosis | CL - Cirrhosis of liver | Cirrhosis of liver (disorder),SNOMEDCT ID:19943007,,,,,,,,,, +BMGC_DS00501,BMG_DS000641,,UMLS ID:C0008924,,,,,isolated cleft lip,MONDO:0016043,,,cleft lip,DOID:9296,, +BMGC_DS00502,BMG_DS000642,,UMLS ID:C0008925,,,,,,,,,cleft palate,DOID:674,, +BMGC_DS00503,BMG_DS000643,Cleidocranial Dysplasia,UMLS ID:C0008928,,,,,cleidocranial dysplasia 1,MONDO:0007340,Cleidocranial Dysplasia,MeSH ID:D002973,cleidocranial dysplasia,DOID:13994,,OMIM ID:119600 +BMGC_DS00504,BMG_DS000644,Clonorchiasis,UMLS ID:C0009021,Clonorchiasis | Chinese liver fluke disease | Oriental liver fluke disease | Hepatic distomiasis due to Clonorchis sinensis | Clonorchiosis | Clonorchiasis (disorder),SNOMEDCT ID:11938002,Clonorchiasis,ICD11 ID:1F80,clonorchiasis,MONDO:0005705,Clonorchiasis,MeSH ID:D003003,clonorchiasis,DOID:13767,ICD10 ID:B66.1, +BMGC_DS00505,BMG_DS000646,,UMLS ID:C0009081,,,,,clubfoot,MONDO:0007342,,,clubfoot,DOID:11836,,OMIM ID:119800 +BMGC_DS00506,BMG_DS000647,Cluster Headache,UMLS ID:C0009088,,,,,cluster headache syndrome,MONDO:0043537,Cluster Headache,MeSH ID:D003027,,,, +BMGC_DS00507,BMG_DS000648,,UMLS ID:C0009171,,,,,cocaine abuse,MONDO:0004456,,,cocaine abuse,DOID:809,, +BMGC_DS00508,BMG_DS000649,Coccidioidomycosis,UMLS ID:C0009186,Coccidioidomycosis | Other mycoses | Sporotrichosis | Mycoses - other | Piedra | Histoplasmosis | Aspergillosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Coccidioidomycosis | Posadas-Wernicke disease | Coccidioidomycosis (disorder) | Coccidioidomycosis infection | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Aspergillosis | Mycoses - other | Histoplasmosis | Other mycoses | Piedra | Sporotrichosis | Coccidioidomycosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Coccidioidomycosis | Coccidioidomycosis (disorder),SNOMEDCT ID:266218008 | SNOMEDCT ID:60826002 | SNOMEDCT ID:154408001 | SNOMEDCT ID:187025009,,,coccidioidomycosis,MONDO:0005706,Coccidioidomycosis,MeSH ID:D003047,coccidioidomycosis,DOID:13450,ICD10 ID:B38, +BMGC_DS00509,BMG_DS000650,Coccidiosis,UMLS ID:C0009187,Coccidiosis | Coccidiosis (disorder) | Coccidiosis infection | Coccidiosis | Coccidiosis (& [intestinal]) | Coccidiosis (& [intestinal]) (disorder),SNOMEDCT ID:62005008 | SNOMEDCT ID:186125004,,,coccidiosis,MONDO:0005707,Coccidiosis,MeSH ID:D003048,coccidiosis,DOID:2113,, +BMGC_DS00510,BMG_DS000652,Cochlear Diseases,UMLS ID:C0009197,,,,,cochlear disorder,MONDO:0003452,Cochlear Diseases,MeSH ID:D015834,cochlear disease,DOID:5463,, +BMGC_DS00511,BMG_DS000653,Cockayne Syndrome,UMLS ID:C0009207,,,,,Cockayne syndrome,MONDO:0016006,Cockayne Syndrome,MeSH ID:D003057,Cockayne syndrome,DOID:2962,, +BMGC_DS00512,BMG_DS000657,Coin lesion of lung,UMLS ID:C0009250,Coin lesion of lung | Coin lesion of lung (finding),SNOMEDCT ID:308689002,,,pulmonary coin lesion,MONDO:0006931,,,pulmonary coin lesion,DOID:5364,, +BMGC_DS00513,BMG_DS000658,Cold Panniculitis,UMLS ID:C0009270,,,,,,,Panniculitis,MeSH ID:D015434,,,, +BMGC_DS00514,BMG_DS000659,Colitis,UMLS ID:C0009319,Colitis | Colitis (disorder) | Colon inflammation,SNOMEDCT ID:64226004,,,colitis,MONDO:0005292,Colitis,MeSH ID:D003092,colitis,DOID:0060180,,OMIM ID:MTHU036324 +BMGC_DS00515,BMG_DS000660,Ulcerative Colitis,UMLS ID:C0009324,,,,,ulcerative colitis,MONDO:0005101,"Colitis, Ulcerative",MeSH ID:D003093,ulcerative colitis,DOID:8577,, +BMGC_DS00516,BMG_DS000661,Collagen Diseases,UMLS ID:C0009326,,,,,obsolete collagen diseases | rheumatic disorder,MONDO:0005554;MONDO:0021103,Collagen Diseases,MeSH ID:D003095,collagen disease,DOID:854,, +BMGC_DS00517,BMG_DS000662,,UMLS ID:C0009363,,,,,coloboma,MONDO:0001476,,,coloboma,DOID:12270,, +BMGC_DS00518,BMG_DS000663,Colonic Diseases,UMLS ID:C0009373,,,,,colonic disorder,MONDO:0003409,Colonic Diseases,MeSH ID:D003108,colonic disease,DOID:5353,, +BMGC_DS00519,BMG_DS000664,"Colonic Diseases, Functional",UMLS ID:C0009374,,,,,functional colonic disease,MONDO:0002802,"Colonic Diseases, Functional",MeSH ID:D003109,functional colonic disease,DOID:3877,, +BMGC_DS00520,BMG_DS000665,,UMLS ID:C0009375,,,,,colonic neoplasm,MONDO:0005401,,,colonic benign neoplasm,DOID:235,, +BMGC_DS00521,BMG_DS000666,,UMLS ID:C0009376,,,,,polyp of colon,MONDO:0021400,,,,,, +BMGC_DS00522,BMG_DS000667,Colonic Pseudo-Obstruction,UMLS ID:C0009377,,,,,colonic pseudo-obstruction,MONDO:0002801,Colonic Pseudo-Obstruction,MeSH ID:D003112,colonic pseudo-obstruction,DOID:3876,, +BMGC_DS00523,BMG_DS000668,Colorado Tick Fever,UMLS ID:C0009400,,,,,Colorado tick fever,MONDO:0005708,Colorado Tick Fever,MeSH ID:D003121,Colorado tick fever,DOID:4885,, +BMGC_DS00524,BMG_DS000669,,UMLS ID:C0009402,,,,,colorectal carcinoma,MONDO:0024331,,,colorectal carcinoma,DOID:0080199,, +BMGC_DS00525,BMG_DS000670,,UMLS ID:C0009404,,,,,colorectal neoplasm,MONDO:0005335,,,colorectal cancer,DOID:9256,, +BMGC_DS00526,BMG_DS000671,,UMLS ID:C0009405,,,,,,,,,Lynch syndrome,DOID:3883,, +BMGC_DS00527,BMG_DS000672,Comatose,UMLS ID:C0009421,Coma | Exanimation | Comatose | Coma (finding) | Coma (disorder) | Coma | Comatose | Exanimation,SNOMEDCT ID:50061006 | SNOMEDCT ID:371632003,,,,,Coma,MeSH ID:D003128,,,, +BMGC_DS00528,BMG_DS000673,,UMLS ID:C0009426,,,,,combat disorder,MONDO:0004049,,,combat disorder,DOID:6950,, +BMGC_DS00529,BMG_DS000674,Common Bile Duct Diseases,UMLS ID:C0009440,,,,,common bile duct disorder,MONDO:0002886,Common Bile Duct Diseases,MeSH ID:D003137,common bile duct disease,DOID:4137,, +BMGC_DS00530,BMG_DS000675,,UMLS ID:C0009442,,,,,common bile duct neoplasm,MONDO:0006709,,,common bile duct neoplasm,DOID:4608,, +BMGC_DS00531,BMG_DS000676,Common Cold,UMLS ID:C0009443,,,,,common cold,MONDO:0005709,Common Cold,MeSH ID:D003139,common cold,DOID:10459,, +BMGC_DS00532,BMG_DS000677,Common Variable Immunodeficiency,UMLS ID:C0009447,,,,,common variable immunodeficiency,MONDO:0015517,Common Variable Immunodeficiency,MeSH ID:D017074,common variable immunodeficiency,DOID:12177,, +BMGC_DS00533,BMG_DS000678,Communicable Diseases,UMLS ID:C0009450,,,,,infectious disease,MONDO:0005550,Communicable Diseases,MeSH ID:D003141,,,, +BMGC_DS00534,BMG_DS000679,Communicating Hydrocephalus,UMLS ID:C0009451,,,,,communicating hydrocephalus,MONDO:0002045,Hydrocephalus,MeSH ID:D006849,communicating hydrocephalus,DOID:1573,, +BMGC_DS00535,BMG_DS000680,,UMLS ID:C0009460,,,,,communication disorder,MONDO:0002182,,,communication disorder,DOID:2033,, +BMGC_DS00536,BMG_DS000681,,UMLS ID:C0009492,,,,,compartment syndrome,MONDO:0004001,,,compartment syndrome,DOID:682,, +BMGC_DS00537,BMG_DS000682,Compression of brain,UMLS ID:C0009592,Compression of brain | Compression of brain (disorder),SNOMEDCT ID:46963008,Compression of brain in neonate,ICD11 ID:KB07,brain compression,MONDO:0001291,,,brain compression,DOID:11457,ICD10 ID:G93.5, +BMGC_DS00538,BMG_DS000683,,UMLS ID:C0009595,,,,,obsessive-compulsive personality disorder,MONDO:0001158,,,obsessive-compulsive personality disorder,DOID:10932,, +BMGC_DS00539,BMG_DS000684,Condylomata Acuminata,UMLS ID:C0009663,,,,,,,Condylomata Acuminata,MeSH ID:D003218,anogenital venereal wart,DOID:11168,, +BMGC_DS00540,BMG_DS000685,,UMLS ID:C0009677,,,,,congenital macroglossia,MONDO:0007927,,,,,,OMIM ID:153630 +BMGC_DS00541,BMG_DS000688,"Hepatic Fibrosis, Congenital",UMLS ID:C0009714,,,,,isolated congenital hepatic fibrosis,MONDO:0018840,,MeSH ID:C562378,,,, +BMGC_DS00542,BMG_DS000689,Conjunctival Diseases,UMLS ID:C0009759,,,,,conjunctival disorder,MONDO:0006170,Conjunctival Diseases,MeSH ID:D003229,conjunctival disease,DOID:4251,, +BMGC_DS00543,BMG_DS000690,,UMLS ID:C0009761,,,,,conjunctival tumor,MONDO:0020204,,,conjunctival cancer,DOID:5467,, +BMGC_DS00544,BMG_DS000691,Conjunctivitis,UMLS ID:C0009763,Unspecified acute conjunctivitis | Conjunctivitis | Conjunctivitis &/or unspecified acute conjunctivitis | Conjunctivitis &/or unspecified acute conjunctivitis (disorder) | Conjunctivitis | Inflammation of conjunctiva | Conjunctivitis (disorder) | Pink eye disease | Eye infection &/or conjunctivitis (& [acute]) | Eye infection | Acute conjunctivitis | Conjunctivitis | Eye infection &/or conjunctivitis (& [acute]) (disorder),SNOMEDCT ID:193858003 | SNOMEDCT ID:9826008 | SNOMEDCT ID:193857008,,,conjunctivitis,MONDO:0003799,Conjunctivitis,MeSH ID:D003231,conjunctivitis,DOID:6195,ICD10 ID:H10,OMIM ID:MTHU036374 +BMGC_DS00545,BMG_DS000692,"Conjunctivitis, Acute Hemorrhagic",UMLS ID:C0009765,,,,,acute hemorrhagic conjunctivitis,MONDO:0005634,"Conjunctivitis, Acute Hemorrhagic",MeSH ID:D003232,acute hemorrhagic conjunctivitis,DOID:11227,, +BMGC_DS00546,BMG_DS000693,Allergic Conjunctivitis,UMLS ID:C0009766,,,,,atopic conjunctivitis,MONDO:0005642,"Conjunctivitis, Allergic",MeSH ID:D003233,allergic conjunctivitis,DOID:11204,, +BMGC_DS00547,BMG_DS000694,Bacterial conjunctivitis,UMLS ID:C0009768,Mucopurulent conjunctivitis | Mucopurulent conjunctivitis (disorder) | Bacterial conjunctivitis | Bacterial conjunctivitis (disorder),SNOMEDCT ID:17482009 | SNOMEDCT ID:193877001 | SNOMEDCT ID:128350005,,,bacterial conjunctivitis,MONDO:0006668,,,bacterial conjunctivitis,DOID:9700,, +BMGC_DS00548,BMG_DS000695,"Conjunctivitis, Giant Papillary",UMLS ID:C0009769,,,,,giant papillary conjunctivitis,MONDO:0002308,"Conjunctivitis, Allergic",MeSH ID:D003233,giant papillary conjunctivitis,DOID:2457,, +BMGC_DS00549,BMG_DS000696,Inclusion conjunctivitis,UMLS ID:C0009770,Inclusion conjunctivitis | Paratrachoma | Inclusion conjunctivitis (disorder) | (Conjunctivitis: [inclusion] or [swimming pool]) or (paratrachoma) | Paratrachoma | Inclusion conjunctivitis | Swimming pool conjunctivitis | (Conjunctivitis: [inclusion] or [swimming pool]) or (paratrachoma) (disorder) | Inclusion conjunctivitis | Inclusion conjunctivitis (disorder),SNOMEDCT ID:266109000 | SNOMEDCT ID:186674002 | SNOMEDCT ID:111840005,,,inclusion conjunctivitis,MONDO:0005808,,,inclusion conjunctivitis,DOID:13800,, +BMGC_DS00550,BMG_DS000697,"Conjunctivitis, Vernal",UMLS ID:C0009773,,,,,vernal conjunctivitis,MONDO:0002313,"Conjunctivitis, Allergic",MeSH ID:D003233,vernal conjunctivitis,DOID:2474,, +BMGC_DS00551,BMG_DS000699,Connective Tissue Diseases,UMLS ID:C0009782,,,,,connective tissue disorder,MONDO:0003900,Connective Tissue Diseases,MeSH ID:D003240,connective tissue disease,DOID:65,, +BMGC_DS00552,BMG_DS000700,,UMLS ID:C0009806,,,,,constipation disorder,MONDO:0002203,,,,,, +BMGC_DS00553,BMG_DS000701,,UMLS ID:C0009946,,,,,conversion disorder,MONDO:0002104,,,conversion disorder,DOID:1768,, +BMGC_DS00554,BMG_DS000702,Febrile Convulsions,UMLS ID:C0009952,,,,,,,"Seizures, Febrile",MeSH ID:D003294,,,, +BMGC_DS00555,BMG_DS000704,Corneal Diseases,UMLS ID:C0010034,,,,,corneal disorder,MONDO:0000942,Corneal Diseases,MeSH ID:D003316,corneal disease,DOID:10124,, +BMGC_DS00556,BMG_DS000705,Hereditary corneal dystrophy,UMLS ID:C0010035,Hereditary corneal dystrophy | Hereditary corneal dystrophy (disorder),SNOMEDCT ID:77797009,,,,,,,corneal dystrophy,DOID:2566,, +BMGC_DS00557,BMG_DS000706,Corneal dystrophy,UMLS ID:C0010036,Corneal dystrophy | Corneal dystrophy (disorder),SNOMEDCT ID:5587004,,,corneal dystrophy,MONDO:0018102,,,corneal dystrophy,DOID:2566,,OMIM ID:MTHU015719 +BMGC_DS00558,BMG_DS000707,,UMLS ID:C0010037,,,,,corneal edema,MONDO:0006712,,,corneal edema,DOID:11030,, +BMGC_DS00559,BMG_DS000708,Corneal Ulcer,UMLS ID:C0010043,,,,,corneal ulcer,MONDO:0004577,Corneal Ulcer,MeSH ID:D003320,corneal ulcer,DOID:8463,, +BMGC_DS00560,BMG_DS000709,Coronary Aneurysm,UMLS ID:C0010051,,,,,coronary aneurysm,MONDO:0006714,Coronary Aneurysm,MeSH ID:D003323,coronary aneurysm,DOID:3362,, +BMGC_DS00561,BMG_DS000710,Coronary Arteriosclerosis,UMLS ID:C0010054,,,,,coronary atherosclerosis,MONDO:0021661,Coronary Artery Disease,MeSH ID:D003324,coronary artery disease,DOID:3393,, +BMGC_DS00562,BMG_DS000711,Coronary heart disease,UMLS ID:C0010068,Coronary atherosclerosis | Coronary sclerosis | Arteriosclerotic heart disease | ASHD | Atherosclerotic heart disease | Coronary atheroma | Coronary heart disease | Coronary artery disease | CHD - Coronary heart disease | CAD - Coronary artery disease | Ischemic heart disease | Myocardial ischemia | Myocardial ischaemia | Ischaemic heart disease | Cardiac ischaemia | IHD - Ischaemic heart disease | Cardiac ischemia | IHD - Ischemic heart disease | Coronary atherosclerosis (disorder) | Coronary arteriosclerosis | Coronary arteriosclerosis (disorder) | Arteriosclerotic heart disease | CAD - Coronary artery disease | Coronary artery disease | Coronary sclerosis | CHD - Coronary heart disease | Coronary heart disease,SNOMEDCT ID:41702007 | SNOMEDCT ID:53741008,,,,,,,coronary artery disease,DOID:3393,, +BMGC_DS00563,BMG_DS000712,Coronary Thrombosis,UMLS ID:C0010072,,,,,coronary thrombosis,MONDO:0006716,Coronary Thrombosis,MeSH ID:D003328,coronary thrombosis,DOID:11847,, +BMGC_DS00564,BMG_DS000713,Coronary Artery Vasospasm,UMLS ID:C0010073,,,,,coronary vasospasm,MONDO:0005356,Coronary Vasospasm,MeSH ID:D003329,coronary artery vasospasm,DOID:11840,, +BMGC_DS00565,BMG_DS000715,Corpus Luteum Cyst,UMLS ID:C0010093,,,,,corpus luteum cyst,MONDO:0001625,Ovarian Cysts,MeSH ID:D010048,,,, +BMGC_DS00566,BMG_DS000718,Cowpox,UMLS ID:C0010232,Cowpox | Milker's node | Smallpox | Orf | Roseola infantum | Variola major | Other viral exanthemata | Fourth disease | Milkers' node | Fifth disease | Parascarlatina | Pseudocowpox | (Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Pseudocowpox | Fifth disease | Other viral exanthemata | Roseola infantum | Variola major | Cowpox | Parascarlatina | Fourth disease | Milkers' node | Milker's node | Smallpox | Orf | (Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Cowpox | Cowpox (disorder),SNOMEDCT ID:154344005 | SNOMEDCT ID:266193008 | SNOMEDCT ID:70090004,,,cowpox,MONDO:0005720,Cowpox,MeSH ID:D015605,cowpox,DOID:8956,ICD10 ID:B08.010, +BMGC_DS00567,BMG_DS000719,Coxsackievirus Infections,UMLS ID:C0010246,,,,,coxsackievirus infectious disease,MONDO:0005721,Coxsackievirus Infections,MeSH ID:D003384,,,, +BMGC_DS00568,BMG_DS000721,,UMLS ID:C0010266,,,,,cranial nerve neuropathy,MONDO:0003569,,,cranial nerve disease,DOID:5656,, +BMGC_DS00569,BMG_DS000722,,UMLS ID:C0010267,,,,,cranial nerve neoplasm,MONDO:0002633,,,cranial nerve malignant neoplasm,DOID:2815,, +BMGC_DS00570,BMG_DS000724,Craniofacial Dysostosis,UMLS ID:C0010273,,,,,Crouzon syndrome,MONDO:0007405,Craniofacial Dysostosis,MeSH ID:D003394,Crouzon syndrome,DOID:2339,,OMIM ID:123500 +BMGC_DS00571,BMG_DS000725,,UMLS ID:C0010276,,,,,craniopharyngioma,MONDO:0018907,,,craniopharyngioma,DOID:3840,, +BMGC_DS00572,BMG_DS000726,Craniosynostosis,UMLS ID:C0010278,Craniosynostosis | Craniosynostosis (disorder) | (Craniosynostosis) or (scaphocephaly) | Scaphocephaly | Craniosynostosis | (Craniosynostosis) or (scaphocephaly) (disorder) | Craniosynostosis syndrome | Craniostosis | Craniosynostosis | Premature closure of cranial sutures | Congenital ossification of cranial sutures | Congenital ossification of sutures of skull | Craniostenosis | Craniosynostosis syndrome (disorder) | CSO - Craniosynostosis | Premature cranial suture closure,SNOMEDCT ID:205414007 | SNOMEDCT ID:205411004 | SNOMEDCT ID:57219006,"Craniosynostosis, unspecified",ICD11 ID:LB70.0Z,craniosynostosis,MONDO:0015469,Craniosynostoses,MeSH ID:D003398,craniosynostosis,DOID:2340,ICD10 ID:Q75.0, +BMGC_DS00573,BMG_DS000727,Congenital Hypothyroidism,UMLS ID:C0010308,,,,,congenital hypothyroidism,MONDO:0018612,Congenital Hypothyroidism,MeSH ID:D003409,congenital hypothyroidism,DOID:0050328,, +BMGC_DS00574,BMG_DS000728,Cri-du-Chat Syndrome,UMLS ID:C0010314,,,,,Cri-du-chat syndrome,MONDO:0007404,Cri-du-Chat Syndrome,MeSH ID:D003410,Cri-Du-Chat syndrome,DOID:12580,,OMIM ID:123450 +BMGC_DS00575,BMG_DS000729,,UMLS ID:C0010324,,,,,Crigler-Najjar syndrome type 1,MONDO:0021020,,,Crigler-Najjar syndrome,DOID:3803,,OMIM ID:218800 +BMGC_DS00576,BMG_DS000731,Critical Illness,UMLS ID:C0010340,,,,,,,Critical Illness,MeSH ID:D016638,,,, +BMGC_DS00577,BMG_DS000732,Crohn Disease,UMLS ID:C0010346,,,,,Crohn disease,MONDO:0005011,Crohn Disease,MeSH ID:D003424,,,, +BMGC_DS00578,BMG_DS000734,Croup,UMLS ID:C0010380,Croup | Croup syndrome | Croup (disorder),SNOMEDCT ID:71186008,,,croup,MONDO:0005722,Croup,MeSH ID:D003440,croup,DOID:9395,, +BMGC_DS00579,BMG_DS000736,Cruveilhier-Baumgarten Syndrome,UMLS ID:C0010398,,,,,,,"Hypertension, Portal",MeSH ID:D006975,,,, +BMGC_DS00580,BMG_DS000737,Cryoglobulinemia,UMLS ID:C0010403,Cryoglobulinemia | Cryoimmunoglobulinemia | Cryoimmunoglobulinaemia | Cryoglobulinaemia | Cryoglobulinemia (disorder),SNOMEDCT ID:30911005,"Diseases of the immune system, unspecified",ICD11 ID:4B4Z,cryoglobulinemia,MONDO:0005576,Cryoglobulinemia,MeSH ID:D003449,cryoglobulinemia,DOID:2917,ICD10 ID:D89.1, +BMGC_DS00581,BMG_DS000738,Infection by Cryptococcus neoformans,UMLS ID:C0010414,Cryptococcosis | Torula | Torulosis | Infection by Cryptococcus neoformans | European cryptococcosis | European blastomycosis | Busse-Buschke's disease | Busse-Buschke disease | Cryptococcosis (disorder),SNOMEDCT ID:42386007,,,cryptococcosis,MONDO:0005724,,,cryptococcosis,DOID:12053,, +BMGC_DS00582,BMG_DS000739,,UMLS ID:C0010417,,,,,cryptorchidism,MONDO:0009047,,,cryptorchidism,DOID:11383,,OMIM ID:219050 +BMGC_DS00583,BMG_DS000740,Cryptosporidiosis,UMLS ID:C0010418,Cryptosporidiosis | Cryptosporidiosis (disorder) | Infection by Cryptosporidium | Cryptosporidium infection | Infection caused by Cryptosporidium (disorder) | Infection caused by Cryptosporidium | Cryptosporidiasis | Cryptosporidiosis | Cryptosporidiosis (disorder),SNOMEDCT ID:186126003 | SNOMEDCT ID:58777003 | SNOMEDCT ID:240370009,Cryptosporidiosis,ICD11 ID:1A32,cryptosporidiosis,MONDO:0015474,Cryptosporidiosis,MeSH ID:D003457,cryptosporidiosis,DOID:1733,ICD10 ID:A07.2, +BMGC_DS00584,BMG_DS000741,Curling Ulcer,UMLS ID:C0010474,,,,,,,Duodenal Ulcer,MeSH ID:D004381,duodenal ulcer,DOID:1724,, +BMGC_DS00585,BMG_DS000742,Cushing Syndrome,UMLS ID:C0010481,,,,,Cushing syndrome,MONDO:0018912,Cushing Syndrome,MeSH ID:D003480,primary hyperaldosteronism,DOID:446,, +BMGC_DS00586,BMG_DS000744,Cutis Laxa,UMLS ID:C0010495,,,,,cutis laxa,MONDO:0016175,Cutis Laxa,MeSH ID:D003483,cutis laxa,DOID:3144,, +BMGC_DS00587,BMG_DS000745,Cyclitis,UMLS ID:C0010543,Cyclitis | Ciliary body disorders | Uveitis | Disorders of iris and ciliary body | Iris disorders | Iris/ciliary body disorders | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder) | Cyclitis | Cyclitis (disorder) | Cyclitis | Iris/ciliary body disorders | Disorders of iris and ciliary body | Ciliary body disorders | Iris disorders | Uveitis | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder),SNOMEDCT ID:267719008 | SNOMEDCT ID:17657000 | SNOMEDCT ID:155116005,,,,,,,,,, +BMGC_DS00588,BMG_DS000746,,UMLS ID:C0010598,,,,,cyclothymic disorder,MONDO:0004572,,,cyclothymic disorder,DOID:845,, +BMGC_DS00589,BMG_DS000747,,UMLS ID:C0010606,,,,,adenoid cystic carcinoma,MONDO:0004971,,,salivary gland adenoid cystic carcinoma,DOID:4866,, +BMGC_DS00590,BMG_DS000748,,UMLS ID:C0010631,,,,,cystadenocarcinoma,MONDO:0005596,,,cystadenocarcinoma,DOID:3111,, +BMGC_DS00591,BMG_DS000749,,UMLS ID:C0010633,,,,,cystadenoma,MONDO:0002369,,,cystadenoma,DOID:2634,, +BMGC_DS00592,BMG_DS000754,Cystic Fibrosis,UMLS ID:C0010674,,,,,cystic fibrosis,MONDO:0009061,Cystic Fibrosis,MeSH ID:D003550,cystic fibrosis,DOID:1485,,OMIM ID:219700 +BMGC_DS00593,BMG_DS000755,Cysticercosis,UMLS ID:C0010678,Cysticercosis | Cysticerciasis | Cysticercosis (disorder) | Larval taeniasis | Larval teniasis,SNOMEDCT ID:59051007,,,cysticercosis,MONDO:0015484,Cysticercosis,MeSH ID:D003551,cysticercosis,DOID:10079,ICD10 ID:B69, +BMGC_DS00594,BMG_DS000756,Cystinuria,UMLS ID:C0010691,Albinism | Cystinuria | Glucose-6-phosphate dehydrogenase deficiency | Glycogen storage disease | Glucose-6-phosph.dehydr.defic. | Von Gierke's disease | von Gierke disease | Other amino-acid/carbohydrate | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) | Galactosaemia | Galactosemia | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) | Cystinuria | Glucose-6-phosphate dehydrogenase deficiency | Albinism | Other amino-acid/carbohydrate | Glycogen storage disease | von Gierke disease | Von Gierke's disease | Glucose-6-phosph.dehydr.defic. | Galactosaemia | Galactosemia | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosemia) or (glycogen storage disease) or (Von Gierke's disease) | (Other amino acid/carbohydrate) or (albinism) or (cystinuria) or (glucose-6-phosphate dehydrogenase deficiency) or (galactosaemia) or (glycogen storage disease) or (Von Gierke's disease) (disorder) | Cystinuria | CSNU - Cystinuria | Cystinuria (disorder),SNOMEDCT ID:154738008 | SNOMEDCT ID:267498002 | SNOMEDCT ID:85020001,,,cystinuria,MONDO:0009067,Cystinuria,MeSH ID:D003555,cystinuria,DOID:9266,ICD10 ID:E72.01,OMIM ID:220100 +BMGC_DS00595,BMG_DS000757,Cystitis,UMLS ID:C0010692,Cystitis | Cystitis (disorder) | Bladder infection,SNOMEDCT ID:38822007,,,cystitis,MONDO:0006032,Cystitis,MeSH ID:D003556,cystitis,DOID:1679,ICD10 ID:N30, +BMGC_DS00596,BMG_DS000759,,UMLS ID:C0010701,,,,,phyllodes tumor,MONDO:0005078,,,benign breast phyllodes tumor,DOID:1631,, +BMGC_DS00597,BMG_DS000760,Cytomegalovirus Infections,UMLS ID:C0010823,,,,,cytomegalovirus infection,MONDO:0005132,Cytomegalovirus Infections,MeSH ID:D003586,,,, +BMGC_DS00598,BMG_DS000761,Dacryocystitis,UMLS ID:C0010930,"Dacryocystitis &/or acute/chronic | Dacryocystitis acute/chronic | Dacryocystitis, acute/chronic | Dacryocystitis | Dacryocystitis &/or acute/chronic (disorder) | Dacryocystitis | Dacryocystitis, acute/chronic | Dacryocystitis acute/chronic | Dacryocystitis &/or acute/chronic | Dacryocystitis &/or acute/chronic (disorder) | Dacryocystitis | Dacryocystitis (disorder)",SNOMEDCT ID:155183008 | SNOMEDCT ID:267738004 | SNOMEDCT ID:85777005,,,dacryocystitis,MONDO:0004926,Dacryocystitis,MeSH ID:D003607,dacryocystitis,DOID:9938,,OMIM ID:MTHU004835 +BMGC_DS00599,BMG_DS000762,Dandy-Walker Syndrome,UMLS ID:C0010964,,,,,Dandy-Walker syndrome,MONDO:0009072,Dandy-Walker Syndrome,MeSH ID:D003616,Dandy-Walker syndrome,DOID:2785,,OMIM ID:220200 +BMGC_DS00600,BMG_DS000763,Prelingual Deafness,UMLS ID:C0011052,,,,,,,Deafness,MeSH ID:D003638,,,, +BMGC_DS00601,BMG_DS000767,Deficiency Diseases,UMLS ID:C0011156,,,,,,,Deficiency Diseases,MeSH ID:D003677,nutritional deficiency disease,DOID:5113,, +BMGC_DS00602,BMG_DS000770,Deglutition Disorders,UMLS ID:C0011168,,,,,,,Deglutition Disorders,MeSH ID:D003680,,,, +BMGC_DS00603,BMG_DS000771,Dehydration,UMLS ID:C0011175,Dehydration | Pure water depletion syndrome | Dehydration (disorder) | Dehydration | Dehydration (disorder),SNOMEDCT ID:34095006 | SNOMEDCT ID:154759001,,,,,Dehydration,MeSH ID:D003681,,,ICD10 ID:E86.0,OMIM ID:MTHU000177 +BMGC_DS00604,BMG_DS000772,Dejerine-Sottas Disease,UMLS ID:C0011195,,,,,Charcot-Marie-Tooth disease type 3,MONDO:0007790,Hereditary Sensory and Motor Neuropathy,MeSH ID:D015417,,,,OMIM ID:145900 +BMGC_DS00605,BMG_DS000773,,UMLS ID:C0011206,,,,,delirium,MONDO:0045057,,,,,, +BMGC_DS00606,BMG_DS000774,,UMLS ID:C0011226,,,,,hepatitis D virus infection,MONDO:0005789,,,hepatitis D,DOID:2047,, +BMGC_DS00607,BMG_DS000775,,UMLS ID:C0011251,,,,,delusional disorder,MONDO:0004359,,,delusional disorder,DOID:778,, +BMGC_DS00608,BMG_DS000776,Multi-infarct dementia,UMLS ID:C0011263,Multi-infarct dementia | Arteriosclerotic dementia | Multi-infarct dementia (disorder) | Multi infarct dementia | MID - multi-infarct dementia,SNOMEDCT ID:56267009,,,multi-infarct dementia,MONDO:0043224,,,vascular dementia,DOID:8725,, +BMGC_DS00609,BMG_DS000777,"Dementia, Vascular",UMLS ID:C0011269,,,,,vascular dementia,MONDO:0004648,"Dementia, Vascular",MeSH ID:D015140,vascular dementia,DOID:8725,, +BMGC_DS00610,BMG_DS000779,Demyelinating Diseases,UMLS ID:C0011303,,,,,demyelinating disease,MONDO:0002562,Demyelinating Diseases,MeSH ID:D003711,demyelinating disease,DOID:3213,, +BMGC_DS00611,BMG_DS000780,Dengue Fever,UMLS ID:C0011311,,,,,dengue disease,MONDO:0005502,Dengue,MeSH ID:D003715,dengue disease,DOID:12205,, +BMGC_DS00612,BMG_DS000781,Dental caries,UMLS ID:C0011334,Dental caries | Dental caries (disorder) | Dental caries | Tooth caries | Dental cavity | Tooth decay | Tooth decayed | Dental decay | Teeth decayed | Dental caries (disorder) | Carious lesion,SNOMEDCT ID:155632007 | SNOMEDCT ID:80967001,,,dental caries,MONDO:0005276,,,dental caries,DOID:216,ICD10 ID:K02,OMIM ID:MTHU004627 +BMGC_DS00613,BMG_DS000783,Dental Enamel Hypoplasia,UMLS ID:C0011351,,,,,dental enamel hypoplasia,MONDO:0004038,Dental Enamel Hypoplasia,MeSH ID:D003744,dental enamel hypoplasia,DOID:693,, +BMGC_DS00614,BMG_DS000784,Dental Plaque,UMLS ID:C0011389,,,,,,,Dental Plaque,MeSH ID:D003773,,,, +BMGC_DS00615,BMG_DS000786,Dental Pulp Calcification,UMLS ID:C0011401,,,,,dental pulp calcification,MONDO:0003542,Dental Pulp Calcification,MeSH ID:D003784,dental pulp calcification,DOID:5608,, +BMGC_DS00616,BMG_DS000787,Dental Pulp Diseases,UMLS ID:C0011405,,,,,dental pulp disorder,MONDO:0003394,Dental Pulp Diseases,MeSH ID:D003788,dental pulp disease,DOID:5330,, +BMGC_DS00617,BMG_DS000789,Dental Pulp Necrosis,UMLS ID:C0011407,,,,,dental pulp necrosis,MONDO:0001326,Dental Pulp Necrosis,MeSH ID:D003790,dental pulp necrosis,DOID:11623,, +BMGC_DS00618,BMG_DS000791,Dentin Dysplasia,UMLS ID:C0011430,,,,,dentin dysplasia,MONDO:0015613,Dentin Dysplasia,MeSH ID:D003805,dentin dysplasia,DOID:701,, +BMGC_DS00619,BMG_DS000792,Dentin Sensitivity,UMLS ID:C0011432,,,,,dentin sensitivity,MONDO:0004059,Dentin Sensitivity,MeSH ID:D003807,dentin sensitivity,DOID:698,, +BMGC_DS00620,BMG_DS000794,,UMLS ID:C0011436,,,,,dentinogenesis imperfecta,MONDO:0018849,,,dentinogenesis imperfecta,DOID:4154,, +BMGC_DS00621,BMG_DS000795,,UMLS ID:C0011548,,,,,dependent personality disorder,MONDO:0001157,,,dependent personality disorder,DOID:10931,, +BMGC_DS00622,BMG_DS000796,,UMLS ID:C0011570,,,,,,,,,depressive disorder,DOID:1596,, +BMGC_DS00623,BMG_DS000797,,UMLS ID:C0011573,,,,,endogenous depression,MONDO:0012048,,,melancholic depression,DOID:1595,, +BMGC_DS00624,BMG_DS000798,,UMLS ID:C0011579,,,,,,,,,neurotic disorder,DOID:4964,, +BMGC_DS00625,BMG_DS000799,,UMLS ID:C0011581,,,,,depressive disorder,MONDO:0002050,,,,,, +BMGC_DS00626,BMG_DS000800,Dermatitis,UMLS ID:C0011603,Inflammatory dermatosis (disorder) | Inflammatory dermatosis | Dermatitis | Dermatitis | Inflammation of skin | Dermatitis (disorder) | Dermatitis | Dermatitis (disorder) | Eczema | Dermatitis | Eczema (disorder) | Eczema | Eczema (disorder),SNOMEDCT ID:703938007 | SNOMEDCT ID:182782007 | SNOMEDCT ID:4979002 | SNOMEDCT ID:238538009 | SNOMEDCT ID:43116000,,,,,Dermatitis,MeSH ID:D003872,dermatitis,DOID:2723,,OMIM ID:MTHU001691 +BMGC_DS00627,BMG_DS000801,Exfoliative dermatitis,UMLS ID:C0011606,Scaling eczema | Scaling eczematous dermatitis | Exfoliative eczematous dermatitis | Exfoliative eczema | Desquamative eczematous dermatitis | Desquamative eczema | Scaling eczema (disorder) | Exfoliative dermatitis | Erythroderma (disorder) | Erythroderma | Exfoliative dermatitis | Erythrodermatitis | Generalized exfoliative dermatitis | Generalised exfoliative dermatitis | Acute eczema | Erythematous eczema | Erythrodermic eczema | Exfoliative dermatitis | Acute eczema (disorder),SNOMEDCT ID:123702007 | SNOMEDCT ID:399992009 | SNOMEDCT ID:55012006,,,exfoliative dermatitis,MONDO:0043233,,,,,ICD10 ID:L26,OMIM ID:MTHU072636 +BMGC_DS00628,BMG_DS000802,Dermatitis Herpetiformis,UMLS ID:C0011608,,,,,dermatitis herpetiformis,MONDO:0015614,Dermatitis Herpetiformis,MeSH ID:D003874,dermatitis herpetiformis,DOID:8505,, +BMGC_DS00629,BMG_DS000803,"Dermatitis, Atopic",UMLS ID:C0011615,,,,,atopic eczema,MONDO:0004980,"Dermatitis, Atopic",MeSH ID:D003876,atopic dermatitis,DOID:3310,,OMIM ID:603165 +BMGC_DS00630,BMG_DS000804,Contact Dermatitis,UMLS ID:C0011616,,,,,contact dermatitis,MONDO:0005480,"Dermatitis, Contact",MeSH ID:D003877,contact dermatitis,DOID:2773,, +BMGC_DS00631,BMG_DS000806,Dermatomycoses,UMLS ID:C0011630,,,,,dermatomycosis,MONDO:0002040,Dermatomycoses,MeSH ID:D003881,dermatomycosis,DOID:1563,, +BMGC_DS00632,BMG_DS000807,Dermatomyositis,UMLS ID:C0011633,Dermatomyositis | Polymyositis with skin involvement | Adult type dermatomyositis | Wagner-Unverricht syndrome | Dermatomyositis (disorder) | DM - Dermatomyositis | Dermatomyositis | Dermatomyositis (disorder) | Dermatomyositis (disorder) | Dermatomyositis | Wagner-Unverricht syndrome | Polymyositis with skin involvement | DM - Dermatomyositis | Poikilodermatomyositis | Dermatomyositis | Dermatomyositis (& [Poikilodermatomyositis]) | Dermatomyositis (& [Poikilodermatomyositis]) (disorder),SNOMEDCT ID:38826005 | SNOMEDCT ID:156456005 | SNOMEDCT ID:396230008 | SNOMEDCT ID:201445002,,,dermatomyositis,MONDO:0016367,Dermatomyositis,MeSH ID:D003882,dermatomyositis,DOID:10223,,OMIM ID:MTHU018873 +BMGC_DS00633,BMG_DS000808,Dermatophytosis,UMLS ID:C0011636,Dermatophytosis | Tinea | Ringworm | Microsporic tinea | Dermatophytosis (disorder) | Ringworm | Mycoses | Dermatophytosis-tinea/ringworm | Tinea | Fungal infection | Dermatophytosis | Fungal infections | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | Fungal infection | Dermatophytosis | Tinea | Fungal infections | Mycoses | Ringworm | Dermatophytosis-tinea/ringworm | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder),SNOMEDCT ID:47382004 | SNOMEDCT ID:266214005 | SNOMEDCT ID:154394006,,,dermatophytosis,MONDO:0004678,,,dermatophytosis,DOID:8913,ICD10 ID:B35, +BMGC_DS00634,BMG_DS000809,Dermatophytosis of groin and perianal area,UMLS ID:C0011638,Dhobie itch | Dermatophytosis of groin and perianal area | Tinea cruris | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) (disorder) | Dermatophytosis of groin and perianal area | Dermatophytosis of groin and perianal area (disorder) | Tinea cruris | Tinea inguinalis | Eczema marginatum | Tinea of groin | Tinea of perianal region | Dhobie itch | Jock itch | Ringworm of genitocrural region | Tinea cruris (disorder) | Dermatophytosis of groin | Dermatophytosis of groin and pubic area | Hebrae | Dermatophytosis of groin and perianal area,SNOMEDCT ID:186989008 | SNOMEDCT ID:266150008 | SNOMEDCT ID:59089002,,,dermatophytosis of groin and perianal area,MONDO:0001405,,,tinea cruris,DOID:11917,, +BMGC_DS00635,BMG_DS000810,,UMLS ID:C0011640,,,,,dermatophytosis of scalp or beard,MONDO:0002967,,,tinea capitis,DOID:4337,, +BMGC_DS00636,BMG_DS000811,Scleroderma,UMLS ID:C0011644,Scleroderma (& [acrosclerosis] or [systemic sclerosis]) | Acrosclerosis | Systemic sclerosis | Scleroderma | Scleroderma (& [acrosclerosis] or [systemic sclerosis]) (disorder) | Scleroderma | Scleroderma (disorder) | Systemic sclerosis | Systemic scleroderma | Thibierge-Weissenbach syndrome | SS - Systemic sclerosis | Systemic sclerosis (disorder) | Scleroderma syndrome | Scleroderma syndrome (disorder) | Scleroderma (& [systemic sclerosis]) | Scleroderma | Systemic sclerosis | Scleroderma (& [systemic sclerosis]) (disorder),SNOMEDCT ID:201440007 | SNOMEDCT ID:201441006 | SNOMEDCT ID:89155008 | SNOMEDCT ID:267874003 | SNOMEDCT ID:128457007 | SNOMEDCT ID:268049000 | SNOMEDCT ID:156451000,,,scleroderma,MONDO:0019340,,,scleroderma,DOID:419,,OMIM ID:MTHU010137 +BMGC_DS00637,BMG_DS000812,Dermatosis Papulosa Nigra,UMLS ID:C0011645,,,,,dermatosis papulosa nigra,MONDO:0007446,,MeSH ID:C562379,dermatosis papulosa nigra,DOID:4400,,OMIM ID:125600 +BMGC_DS00638,BMG_DS000813,,UMLS ID:C0011649,,,,,dermoid cyst,MONDO:0002378,,,dermoid cyst,DOID:2658,, +BMGC_DS00639,BMG_DS000814,,UMLS ID:C0011757,,,,,developmental coordination disorder,MONDO:0004922,,,developmental coordination disorder,DOID:9923,, +BMGC_DS00640,BMG_DS000815,,UMLS ID:C0011813,,,,,dextrocardia,MONDO:0015661,,,dextrocardia,DOID:9565,, +BMGC_DS00641,BMG_DS000816,Diabetes,UMLS ID:C0011847,,,,,,,,,,,,OMIM ID:MTHU050182 +BMGC_DS00642,BMG_DS000817,Diabetes Insipidus,UMLS ID:C0011848,,,,,diabetes insipidus,MONDO:0004782,Diabetes Insipidus,MeSH ID:D003919,diabetes insipidus,DOID:9409,, +BMGC_DS00643,BMG_DS000818,Diabetes Mellitus,UMLS ID:C0011849,,,,,diabetes mellitus,MONDO:0005015,Diabetes Mellitus,MeSH ID:D003920,diabetes mellitus,DOID:9351,, +BMGC_DS00644,BMG_DS000819,"Diabetes Mellitus, Insulin-Dependent",UMLS ID:C0011854,,,,,type 1 diabetes mellitus,MONDO:0005147,"Diabetes Mellitus, Type 1",MeSH ID:D003922,type 1 diabetes mellitus,DOID:9744,,OMIM ID:222100 +BMGC_DS00645,BMG_DS000820,Lipoatrophic Diabetes Mellitus,UMLS ID:C0011859,,,,,lipoatrophic diabetes,MONDO:0005827,"Diabetes Mellitus, Lipoatrophic",MeSH ID:D003923,lipoatrophic diabetes mellitus,DOID:11712,, +BMGC_DS00646,BMG_DS000821,"Diabetes Mellitus, Non-Insulin-Dependent",UMLS ID:C0011860,,,,,type 2 diabetes mellitus,MONDO:0005148,"Diabetes Mellitus, Type 2",MeSH ID:D003924,type 2 diabetes mellitus,DOID:9352,,OMIM ID:125853 +BMGC_DS00647,BMG_DS000823,Diabetic peripheral angiopathy,UMLS ID:C0011871,Diabetes with peripheral circulatory disorders | Diabetes with peripheral circulatory disorders (disorder) | Diabetic peripheral angiopathy | Diabetic peripheral vascular disease | Diabetes with peripheral circulatory disorder | Peripheral angiopathy due to diabetes mellitus | Peripheral angiopathy due to diabetes mellitus (disorder),SNOMEDCT ID:982001 | SNOMEDCT ID:127014009,,,diabetic peripheral angiopathy,MONDO:0000960,,,diabetic angiopathy,DOID:11713,, +BMGC_DS00648,BMG_DS000824,Diabetic Angiopathies,UMLS ID:C0011875,,,,,,,Diabetic Angiopathies,MeSH ID:D003925,diabetic angiopathy,DOID:11713,, +BMGC_DS00649,BMG_DS000825,Cataract due to diabetes mellitus,UMLS ID:C0011876,Diabetic cataract | Cataract due to diabetes mellitus | Cataract of eye due to diabetes mellitus (disorder) | Cataract of eye due to diabetes mellitus,SNOMEDCT ID:43959009,,,diabetic cataract,MONDO:0001687,,,diabetic cataract,DOID:13328,, +BMGC_DS00650,BMG_DS000827,Diabetic Ketoacidosis,UMLS ID:C0011880,,,,,diabetic ketoacidosis,MONDO:0012819,Diabetic Ketoacidosis,MeSH ID:D016883,diabetic ketoacidosis,DOID:1837,, +BMGC_DS00651,BMG_DS000828,Diabetic Nephropathy,UMLS ID:C0011881,,,,,diabetic kidney disease,MONDO:0005016,Diabetic Nephropathies,MeSH ID:D003928,,,, +BMGC_DS00652,BMG_DS000829,Diabetic Neuropathies,UMLS ID:C0011882,,,,,diabetic neuropathy,MONDO:0006626,Diabetic Neuropathies,MeSH ID:D003929,diabetic neuropathy,DOID:9743,, +BMGC_DS00653,BMG_DS000830,Diabetic Retinopathy,UMLS ID:C0011884,,,,,diabetic retinopathy,MONDO:0005266,Diabetic Retinopathy,MeSH ID:D003930,diabetic retinopathy,DOID:8947,, +BMGC_DS00654,BMG_DS000831,Diaper Rash,UMLS ID:C0011974,,,,,,,Diaper Rash,MeSH ID:D003963,,,, +BMGC_DS00655,BMG_DS000832,,UMLS ID:C0011981,,,,,diaphragmatic eventration,MONDO:0006726,,,diaphragmatic eventration,DOID:10480,, +BMGC_DS00656,BMG_DS000834,Camurati-Engelmann Syndrome,UMLS ID:C0011989,,,,,Camurati-Engelmann disease,MONDO:0007542,Camurati-Engelmann Syndrome,MeSH ID:D003966,Camurati-Engelmann disease,DOID:4997,,OMIM ID:131300 +BMGC_DS00657,BMG_DS000836,,UMLS ID:C0011993,,,,,VIPoma,MONDO:0019960,,,VIPoma,DOID:5574,, +BMGC_DS00658,BMG_DS000837,,UMLS ID:C0011999,,,,,diastematomyelia,MONDO:0009106,,,,,,OMIM ID:222500 +BMGC_DS00659,BMG_DS000838,Dicrocoeliasis,UMLS ID:C0012102,Dicrocoeliasis | Dicrocoeliosis | Dicroceliasis | Lancet fluke infection | Dicroceliosis | Dicrocoeliasis (disorder) | Infection caused by Dicrocoelium dendriticum,SNOMEDCT ID:8410006,,,dicrocoeliasis,MONDO:0005729,Dicrocoeliasis,MeSH ID:D004011,dicrocoeliasis,DOID:1219,, +BMGC_DS00660,BMG_DS000840,Dientamoebiasis,UMLS ID:C0012147,,,,,dientamoebiasis,MONDO:0024608,Dientamoebiasis,MeSH ID:D004030,dientamoebiasis,DOID:946,, +BMGC_DS00661,BMG_DS000841,DiGeorge Syndrome,UMLS ID:C0012236,,,,,DiGeorge syndrome,MONDO:0008564,DiGeorge Syndrome,MeSH ID:D004062,DiGeorge syndrome,DOID:11198,,OMIM ID:188400 +BMGC_DS00662,BMG_DS000842,Digestive System Disorders,UMLS ID:C0012242,,,,,,,Digestive System Diseases,MeSH ID:D004066,gastrointestinal system disease,DOID:77,, +BMGC_DS00663,BMG_DS000843,,UMLS ID:C0012243,,,,,digestive system neoplasm,MONDO:0021223,,,gastrointestinal system cancer,DOID:3119,, +BMGC_DS00664,BMG_DS000845,Dipetalonema Infections,UMLS ID:C0012517,,,,,dipetalonemiasis,MONDO:0005731,Dipetalonema Infections,MeSH ID:D004154,dipetalonemiasis,DOID:14422,, +BMGC_DS00665,BMG_DS000846,Diphtheria,UMLS ID:C0012546,Diphtheria | Diphtheria (disorder) | Diphtheria | Infection due to Corynebacterium diphtheriae | Diphtheria (disorder) | Diphtheria (disorder) | Diphtheria,SNOMEDCT ID:154299004 | SNOMEDCT ID:3739008 | SNOMEDCT ID:397428000,,,diphtheria,MONDO:0005504,,,,,ICD10 ID:A36, +BMGC_DS00666,BMG_DS000849,Cutaneous diphtheria,UMLS ID:C0012555,Cutaneous diphtheria | Cutaneous diphtheria (disorder),SNOMEDCT ID:18901009,Cutaneous diphtheria,ICD11 ID:1C17.3,cutaneous diphtheria,MONDO:0001479,,,cutaneous diphtheria,DOID:12275,ICD10 ID:A36.3, +BMGC_DS00667,BMG_DS000853,Diphyllobothriasis,UMLS ID:C0012561,Fish tapeworm infection | Diphyllobothrium infection | Diphyllobothriasis | Diphyllobothriasis (disorder) | Infection by Diphyllobothrium | Infection by Diphyllobothrium (disorder),SNOMEDCT ID:187151009 | SNOMEDCT ID:49047003,Diphyllobothriasis,ICD11 ID:1F71,diphyllobothriasis,MONDO:0015260,Diphyllobothriasis,MeSH ID:D004169,diphyllobothriasis,DOID:10075,ICD10 ID:B70.0, +BMGC_DS00668,BMG_DS000854,Diplopia,UMLS ID:C0012569,Diplopia | Diplopia (finding) | Diplopia | Double vision | Diplopia (disorder) | Seeing double | Diplopia | Diplopia (disorder),SNOMEDCT ID:139545001 | SNOMEDCT ID:24982008 | SNOMEDCT ID:162276002 | SNOMEDCT ID:155141003,Impairment of binocular functions,ICD11 ID:9D46,,,Diplopia,MeSH ID:D004172,,,ICD10 ID:H53.2,OMIM ID:MTHU000786 +BMGC_DS00669,BMG_DS000855,Dirofilariasis,UMLS ID:C0012602,Infection by Dirofilaria | Dirofilariasis | Dirofilariosis | Infection caused by Dirofilaria | Infection caused by Dirofilaria (disorder),SNOMEDCT ID:73328005,"Filariasis, unspecified",ICD11 ID:1F66.Z,dirofilariasis,MONDO:0015636,Dirofilariasis,MeSH ID:D004184,dirofilariasis,DOID:1082,ICD10 ID:B74.8, +BMGC_DS00670,BMG_DS000856,Discitis,UMLS ID:C0012624,Discitis | Discitis (disorder) | Intervertebral discitis | Inflammatory discitis,SNOMEDCT ID:2304001,,,obsolete discitis,MONDO:0006728,Discitis,MeSH ID:D015299,discitis,DOID:10986,, +BMGC_DS00671,BMG_DS000857,Discrete Subaortic Stenosis,UMLS ID:C0012628,,,,,discrete subaortic stenosis,MONDO:0006729,Discrete Subaortic Stenosis,MeSH ID:D021922,discrete subaortic stenosis,DOID:5804,, +BMGC_DS00672,BMG_DS000858,Disease,UMLS ID:C0012634,Disease | Clinical disease AND/OR syndrome | Disorder | Syndrome | Disorders | Diseases | Disease (disorder),SNOMEDCT ID:64572001,,,disease,MONDO:0000001,Disease,MeSH ID:D004194,disease,DOID:4,, +BMGC_DS00673,BMG_DS000863,Iron Metabolism Disorders,UMLS ID:C0012715,,,,,iron metabolism disease,MONDO:0002279,Iron Metabolism Disorders,MeSH ID:D019189,iron metabolism disease,DOID:2351,, +BMGC_DS00674,BMG_DS000864,Disorder of magnesium metabolism,UMLS ID:C0012716,Disorder of magnesium metabolism | Disorder of magnesium metabolism (disorder),SNOMEDCT ID:60853003,,,,,,,,,, +BMGC_DS00675,BMG_DS000865,,UMLS ID:C0012734,,,,,disruptive behavior disorder,MONDO:0800106,,,,,, +BMGC_DS00676,BMG_DS000866,Dissecting aortic aneurysm,UMLS ID:C0012736,Dissection of aorta | Dissection of aorta (disorder) | Dissecting aortic aneurysm | Dissecting aortic aneurysm (disorder),SNOMEDCT ID:308546005 | SNOMEDCT ID:155420000 | SNOMEDCT ID:67076004,,,,,,,,,, +BMGC_DS00677,BMG_DS000868,Disseminated Intravascular Coagulation,UMLS ID:C0012739,,,,,disseminated intravascular coagulation,MONDO:0001243,Disseminated Intravascular Coagulation,MeSH ID:D004211,disseminated intravascular coagulation,DOID:11247,, +BMGC_DS00678,BMG_DS000869,,UMLS ID:C0012746,,,,,dissociative disorder,MONDO:0001160,,,dissociative disorder,DOID:10935,, +BMGC_DS00679,BMG_DS000872,Diverticulitis,UMLS ID:C0012813,Diverticulitis | Diverticulitis (disorder) | Diverticulitis (& [of intestine]) | Diverticulitis | Diverticulitis (& [of intestine]) (disorder) | Diverticulitis | Diverticulitis (morphologic abnormality),SNOMEDCT ID:155779000 | SNOMEDCT ID:197095003 | SNOMEDCT ID:18126004 | SNOMEDCT ID:307496006,,,diverticulitis,MONDO:0004235,Diverticulitis,MeSH ID:D004238,diverticulitis,DOID:7475,,OMIM ID:MTHU026283 +BMGC_DS00680,BMG_DS000873,Colonic Diverticulitis,UMLS ID:C0012814,,,,,diverticulitis of colon,MONDO:0001674,"Diverticulitis, Colonic",MeSH ID:D004239,diverticulitis of colon,DOID:13254,, +BMGC_DS00681,BMG_DS000875,Diverticular disease of colon,UMLS ID:C0012819,Diverticulosis of colon without diverticulitis | Diverticular disease of colon | Diverticulosis of colon | Diverticulosis of the colon | Diverticular disease | Diverticular disease of large intestine | DD - Diverticular disease | Diverticulosis | Diverticulosis of colon without diverticulitis (disorder) | Diverticular disease of colon (disorder) | Diverticular disease of colon | Symptomatic diverticulosis of colon,SNOMEDCT ID:68047000 | SNOMEDCT ID:398050005,,,,,,,,,, +BMGC_DS00682,BMG_DS000877,Dog Diseases,UMLS ID:C0012979,,,,,dog disease,MONDO:0024919,Dog Diseases,MeSH ID:D004283,,,, +BMGC_DS00683,BMG_DS000878,,UMLS ID:C0013069,,,,,double outlet right ventricle,MONDO:0018089,,,double outlet right ventricle,DOID:6406,, +BMGC_DS00684,BMG_DS000880,Down Syndrome,UMLS ID:C0013080,,,,,Down syndrome,MONDO:0008608,Down Syndrome,MeSH ID:D004314,Down syndrome,DOID:14250,,OMIM ID:190685 +BMGC_DS00685,BMG_DS000881,Dracunculiasis,UMLS ID:C0013100,Infection by Dracunculus medinensis | Dracontiasis - guinea-worm | Dracontiasis | Dracunculosis | Guinea-worm infection | Guinea worm disease | Dracunculiasis | Infection caused by Dracunculus medinensis | Infection caused by Dracunculus medinensis (disorder) | Infection by Dracunculus medinensis | Dracontiasis | Dracunculiasis | Guinea worm disease | Dracunculosis | Guinea-worm ulcer | Guinea-worm infection | Dracontiasis - guinea-worm | Infection by Dracunculus medinensis (disorder),SNOMEDCT ID:396334002 | SNOMEDCT ID:48874008,,,dracunculiasis,MONDO:0016472,Dracunculiasis,MeSH ID:D004320,dracunculiasis,DOID:14418,ICD10 ID:B72, +BMGC_DS00686,BMG_DS000882,,UMLS ID:C0013146,,,,,,,,,substance abuse,DOID:302,, +BMGC_DS00687,BMG_DS000883,,UMLS ID:C0013182,,,,,drug allergy,MONDO:0000775,,,,,, +BMGC_DS00688,BMG_DS000884,Dry Eye Syndromes,UMLS ID:C0013238,,,,,dry eye syndrome,MONDO:0006733,Dry Eye Syndromes,MeSH ID:D015352,dry eye syndrome,DOID:10140,, +BMGC_DS00689,BMG_DS000885,Alveolar periostitis,UMLS ID:C0013240,Marginal periodontitis | Marginal periodontitis (disorder) | Alveolar periostitis | Alveolar periostitis (disorder),SNOMEDCT ID:12033006 | SNOMEDCT ID:251331003,,,alveolar periostitis,MONDO:0001752,,,alveolar periostitis,DOID:13585,, +BMGC_DS00690,BMG_DS000886,Duane Retraction Syndrome,UMLS ID:C0013261,,,,,Duane retraction syndrome,MONDO:0007473,Duane Retraction Syndrome,MeSH ID:D004370,Duane retraction syndrome,DOID:12557,, +BMGC_DS00691,BMG_DS000887,"Muscular Dystrophy, Duchenne",UMLS ID:C0013264,,,,,Duchenne muscular dystrophy,MONDO:0010679,"Muscular Dystrophy, Duchenne",MeSH ID:D020388,Duchenne muscular dystrophy,DOID:11723,,OMIM ID:310200 +BMGC_DS00692,BMG_DS000888,,UMLS ID:C0013274,,,,,patent ductus arteriosus,MONDO:0011827,,,patent ductus arteriosus,DOID:13832,, +BMGC_DS00693,BMG_DS000889,Dumping Syndrome,UMLS ID:C0013288,,,,,dumping syndrome,MONDO:0001979,Dumping Syndrome,MeSH ID:D004377,dumping syndrome,DOID:14495,, +BMGC_DS00694,BMG_DS000890,Duodenal Diseases,UMLS ID:C0013289,,,,,duodenal disorder,MONDO:0002866,Duodenal Diseases,MeSH ID:D004378,duodenum disease,DOID:4072,, +BMGC_DS00695,BMG_DS000891,,UMLS ID:C0013291,,,,,tumor of duodenum,MONDO:0021375,,,duodenal benign neoplasm,DOID:1737,, +BMGC_DS00696,BMG_DS000892,Duodenal Obstruction,UMLS ID:C0013292,,,,,duodenal obstruction,MONDO:0002688,Duodenal Obstruction,MeSH ID:D004380,duodenal obstruction,DOID:3558,, +BMGC_DS00697,BMG_DS000893,Duodenal Ulcer,UMLS ID:C0013295,,,,,duodenal ulcer,MONDO:0005412,Duodenal Ulcer,MeSH ID:D004381,duodenal ulcer,DOID:1724,, +BMGC_DS00698,BMG_DS000894,Duodenitis,UMLS ID:C0013298,Duodenitis | Duodenitis (disorder),SNOMEDCT ID:155715004 | SNOMEDCT ID:72007001,"Duodenitis, unspecified",ICD11 ID:DA51.Z,duodenitis,MONDO:0004627,Duodenitis,MeSH ID:D004382,duodenitis,DOID:8643,ICD10 ID:K29.8,OMIM ID:MTHU072206 +BMGC_DS00699,BMG_DS000895,Duodenogastric Reflux,UMLS ID:C0013299,,,,,duodenogastric reflux,MONDO:0006735,Duodenogastric Reflux,MeSH ID:D004383,duodenogastric reflux,DOID:4071,, +BMGC_DS00700,BMG_DS000896,Dupuytren Contracture,UMLS ID:C0013312,,,,,familial Dupuytren contracture,MONDO:0007476,Dupuytren Contracture,MeSH ID:D004387,,,,OMIM ID:126900 +BMGC_DS00701,BMG_DS000897,Dwarfism,UMLS ID:C0013336,Small stature | Short stature disorder | Short stature disorder (disorder) | SS - Short stature | Short stature | Dwarfism | Dwarfism (disorder) | (Achondroplasia) or (achondrogenesis) or (dwarfism (& achondroplastic)) | Achondrogenesis | Dwarfism | Achondroplastic dwarf | Achondroplasia | (Achondroplasia) or (achondrogenesis) or (dwarfism (& achondroplastic)) (disorder) | True dwarfism | Primordial dwarf | Nanosomia | Normal dwarf | Dwarfism (disorder) | Dwarfism,SNOMEDCT ID:237836003 | SNOMEDCT ID:90482002 | SNOMEDCT ID:205467007 | SNOMEDCT ID:185797004,,,,,Dwarfism,MeSH ID:D004392,,,,OMIM ID:MTHU009274 +BMGC_DS00702,BMG_DS000898,Pituitary dwarfism,UMLS ID:C0013338,Pituitary dwarfism | Hypopituitary dwarfism | Pituitary nanism | Hyposomatotropic dwarfism | Prepubertal dwarfism | Isolated deficiency of growth hormone in children | Prepuberal dwarfism | Pituitary dwarfism (disorder) | Lorain - Levi dwarfism | Pituitary dwarfism | Pituitary dwarfism (disorder) | Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] | Lorain - Levi dwarfism | Hypophyseal dwarfism | Pituitary dwarfism | Dwarfism: [pituitary] or [hypophyseal (& Lorain-Levi)] (disorder),SNOMEDCT ID:367460001 | SNOMEDCT ID:270485009 | SNOMEDCT ID:45617007 | SNOMEDCT ID:190476004 | SNOMEDCT ID:154701008,,,pituitary dwarfism,MONDO:0006909,,,isolated growth hormone deficiency,DOID:0060870,, +BMGC_DS00703,BMG_DS000899,Dysautonomia,UMLS ID:C0013363,Disorder of autonomic nervous system | Disorder of vegetative system | Dysautonomia | Disorders of autonomic nervous system | Disorder of autonomic nervous system (disorder),SNOMEDCT ID:15241006,,,dysautonomia,MONDO:0044872,,,,,,OMIM ID:MTHU005895 +BMGC_DS00704,BMG_DS000900,"Dysautonomia, Familial",UMLS ID:C0013364,,,,,Riley-Day syndrome,MONDO:0009131,"Dysautonomia, Familial",MeSH ID:D004402,Riley-Day syndrome,DOID:11589,,OMIM ID:223900 +BMGC_DS00705,BMG_DS000901,Dysentery,UMLS ID:C0013369,Specific GIT infectious dis. | Specific gastrointestinal infectious disease | Dysentery | Bacterial gastroenteritis | Gastroenteritis - bact. | Diarrhoea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | Diarrhea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | Gastroenteritis - bact. | Specific GIT infectious dis. | Specific gastrointestinal infectious disease | Dysentery | Bacterial gastroenteritis | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | Diarrhea-bact.GIT inf. | Diarrhoea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | Dysentery | Dysentery (disorder),SNOMEDCT ID:266173000 | SNOMEDCT ID:154268000 | SNOMEDCT ID:111939009,,,dysentery,MONDO:0001517,Dysentery,MeSH ID:D004403,dysentery | diarrhea,DOID:12384;DOID:13250,, +BMGC_DS00706,BMG_DS000902,Amebic colitis,UMLS ID:C0013370,Amebic colitis | Amoebic colitis | Amebic colitis (disorder),SNOMEDCT ID:235747003,,,amebic dysentery,MONDO:0024275,,,,,, +BMGC_DS00707,BMG_DS000903,Shigella Infections,UMLS ID:C0013371,,,,,shigellosis,MONDO:0019345,"Dysentery, Bacillary",MeSH ID:D004405,shigellosis,DOID:12385,, +BMGC_DS00708,BMG_DS000904,Dysgammaglobulinemia,UMLS ID:C0013374,Dysgammaglobulinemia | Dysgammaglobulinaemia | Dysgammaglobulinemia (disorder) | Dysgammaglobulinemia | Dysgammaglobulinaemia | Dysgammaglobulinemia (finding),SNOMEDCT ID:123782009 | SNOMEDCT ID:127389001,,,dysgammaglobulinemia,MONDO:0001342,Dysgammaglobulinemia,MeSH ID:D004406,dysgammaglobulinemia,DOID:11702,,OMIM ID:MTHU007448 +BMGC_DS00709,BMG_DS000905,,UMLS ID:C0013377,,,,,dysgerminoma,MONDO:0003002,,,dysgerminoma,DOID:4441,, +BMGC_DS00710,BMG_DS000906,"Dyskinesia, Drug-Induced",UMLS ID:C0013386,,,,,drug-induced dyskinesia,MONDO:0006732,"Dyskinesia, Drug-Induced",MeSH ID:D004409,,,, +BMGC_DS00711,BMG_DS000907,,UMLS ID:C0013388,,,,,,,,,alexia,DOID:13417,, +BMGC_DS00712,BMG_DS000908,Dysmenorrhea,UMLS ID:C0013390,Menorrhalgia | Dysmenorrhea (finding) | Dysmenorrhoea | Dysmenorrhea | Dysmenorrhea | Dysmenorrhoea | Dysmenorrhea (finding) | Period pain | Menstrual cramps | Dysmenorrhea | Dysmenorrhoea | Dysmenorrhea (disorder) | Menorrhalgia | Dysmenorrhoea | Dysmenorrhea | Dysmenorrhoea (disorder) | Painful menstruation | Period pains | Dysmenorrhea (& spasmodic) | Dysmenorrhea | Painful menorrhea | Spasmodic dysmenorrhea | Painful menorrhoea | Spasmodic dysmenorrhoea | Dysmenorrhoea | Dysmenorrhoea (& spasmodic) | Dysmenorrhoea (& spasmodic) (disorder),SNOMEDCT ID:367433008 | SNOMEDCT ID:29837005 | SNOMEDCT ID:266599000 | SNOMEDCT ID:156030009 | SNOMEDCT ID:198404001,,,,,Dysmenorrhea,MeSH ID:D004412,,,, +BMGC_DS00713,BMG_DS000909,Dysostoses,UMLS ID:C0013393,,,,,dysostosis,MONDO:0018234,Dysostoses,MeSH ID:D004413,dysostosis,DOID:1934,, +BMGC_DS00714,BMG_DS000911,,UMLS ID:C0013395,,,,,dyspepsia,MONDO:0002268,,,,,, +BMGC_DS00715,BMG_DS000912,,UMLS ID:C0013396,,,,,,,,,functional gastric disease,DOID:1159,, +BMGC_DS00716,BMG_DS000914,,UMLS ID:C0013415,,,,,dysthymic disorder,MONDO:0001442,,,dysthymic disorder,DOID:12139,, +BMGC_DS00717,BMG_DS000916,,UMLS ID:C0013421,,,,,dystonic disorder,MONDO:0003441,,,dystonia,DOID:543,, +BMGC_DS00718,BMG_DS000917,Dystonia Musculorum Deformans,UMLS ID:C0013423,,,,,torsion dystonia,MONDO:0044843,Dystonia Musculorum Deformans,MeSH ID:D004422,generalized dystonia,DOID:0050835,, +BMGC_DS00719,BMG_DS000918,Dystrophy of vulva,UMLS ID:C0013426,Dystrophy of vulva | Dystrophy of vulva (disorder),SNOMEDCT ID:51689003 | SNOMEDCT ID:198378001,Lichen sclerosus of vulva,ICD11 ID:EB60.0,vulvar dystrophy,MONDO:0001938,,,vulvar dystrophy,DOID:14292,ICD10 ID:N90.4, +BMGC_DS00720,BMG_DS000919,Ear Diseases,UMLS ID:C0013447,,,,,disorder of ear,MONDO:0021205,Ear Diseases,MeSH ID:D004427,auditory system disease,DOID:2742,, +BMGC_DS00721,BMG_DS000920,,UMLS ID:C0013449,,,,,ear neoplasm,MONDO:0021233,,,auditory system cancer,DOID:833,, +BMGC_DS00722,BMG_DS000922,,UMLS ID:C0013473,,,,,eating disorder,MONDO:0005451,,,eating disorder,DOID:8670,, +BMGC_DS00723,BMG_DS000923,,UMLS ID:C0013481,,,,,Ebstein anomaly,MONDO:0009144,,,Ebstein anomaly,DOID:14289,,OMIM ID:224700 +BMGC_DS00724,BMG_DS000924,Echinococcosis,UMLS ID:C0013502,Echinococcosis | Echinococcosis (disorder) | Echinococciasis | Echinococcosis | Hydatid disease | Hydatidosis | Echinococcus disease | Echinococcosis (disorder),SNOMEDCT ID:154414008 | SNOMEDCT ID:74942003,,,echinococcosis,MONDO:0005738,Echinococcosis,MeSH ID:D004443,echinococcosis,DOID:1496,ICD10 ID:B67, +BMGC_DS00725,BMG_DS000927,Echinostomiasis,UMLS ID:C0013514,Echinostomiasis | Echinostomosis | Echinostomiasis (disorder),SNOMEDCT ID:36607007,"Diseases due to trematodes, unspecified",ICD11 ID:1F8Z,echinostomiasis,MONDO:0005739,Echinostomiasis,MeSH ID:D004451,echinostomiasis,DOID:1218,ICD10 ID:B66.8, +BMGC_DS00726,BMG_DS000928,,UMLS ID:C0013528,,,,,echolalia,MONDO:0002904,,,echolalia,DOID:4188,, +BMGC_DS00727,BMG_DS000930,Eclampsia,UMLS ID:C0013537,Eclampsia | Toxemia with convulsions | Eclamptic toxemia | Eclamptic toxaemia | Toxaemia with convulsions | Eclampsia (disorder) | Eclampsia | Eclampsia (disorder),SNOMEDCT ID:15938005 | SNOMEDCT ID:156111007 | SNOMEDCT ID:198988006,,,eclampsia,MONDO:0001754,Eclampsia,MeSH ID:D004461,eclampsia,DOID:13593,ICD10 ID:O15,OMIM ID:MTHU074894 +BMGC_DS00728,BMG_DS000931,Ecthyma,UMLS ID:C0013568,Ecthyma | Ecthyma (disorder),SNOMEDCT ID:762694009 | SNOMEDCT ID:85791004,,,ecthyma,MONDO:0001404,Ecthyma,MeSH ID:D004473,ecthyma,DOID:11907,, +BMGC_DS00729,BMG_DS000932,"Ecthyma, Contagious",UMLS ID:C0013570,,,,,contagious pustular dermatitis,MONDO:0005717,"Ecthyma, Contagious",MeSH ID:D004474,contagious pustular dermatitis,DOID:8771,, +BMGC_DS00730,BMG_DS000933,Ectodermal Dysplasia,UMLS ID:C0013575,,,,,ectodermal dysplasia syndrome,MONDO:0019287,Ectodermal Dysplasia,MeSH ID:D004476,ectodermal dysplasia,DOID:2121,, +BMGC_DS00731,BMG_DS000934,Ectoparasitic Infestations,UMLS ID:C0013578,,,,,parasitic ectoparasitic infectious disease,MONDO:0002875,Ectoparasitic Infestations,MeSH ID:D004478,parasitic ectoparasitic infectious disease,DOID:4110,, +BMGC_DS00732,BMG_DS000936,,UMLS ID:C0013581,,,,,,,,,isolated ectopia lentis,DOID:0111148,, +BMGC_DS00733,BMG_DS000937,"Ectromelia, Infectious",UMLS ID:C0013591,,,,,infectious ectromelia,MONDO:0005809,"Ectromelia, Infectious",MeSH ID:D004482,,,, +BMGC_DS00734,BMG_DS000938,Ectropion,UMLS ID:C0013592,Ectropion | Ectropion (disorder) | Ectropion | Eversion of the eyelid | Eyelashes turned out | Eyelid turned out | Eyelid everted | Ectropion of eyelid (disorder) | Ectropion of eyelid | Ectropion | Everted margin (morphologic abnormality) | Everted margin,SNOMEDCT ID:155178000 | SNOMEDCT ID:62909004 | SNOMEDCT ID:127559009,,,ectropion,MONDO:0002043,Ectropion,MeSH ID:D004483,ectropion,DOID:1570,,OMIM ID:MTHU037564 +BMGC_DS00735,BMG_DS000939,Eczema,UMLS ID:C0013595,Eczema | Dermatitis | Eczema (disorder) | Eczema | Eczema (disorder),SNOMEDCT ID:238538009 | SNOMEDCT ID:43116000 | SNOMEDCT ID:156326000,,,,,Eczema,MeSH ID:D004485,,,,OMIM ID:MTHU003535 +BMGC_DS00736,BMG_DS000944,Ehlers-Danlos Syndrome,UMLS ID:C0013720,,,,,Ehlers-Danlos syndrome,MONDO:0020066,Ehlers-Danlos Syndrome,MeSH ID:D004535,Ehlers-Danlos syndrome,DOID:13359,, +BMGC_DS00737,BMG_DS000946,Elaeophoriasis,UMLS ID:C0013755,,,,,,,Filariasis,MeSH ID:D005368,,,, +BMGC_DS00738,BMG_DS000947,Elephantiasis,UMLS ID:C0013882,Lymphatic filariasis | Lymphatic filariasis (disorder) | Filarial elephantiasis | Elephantiasis | Elephantiasis | Lymphoedema | Lymphoedema NOS | (Elephantiasis) or (lymphoedema [& NOS]) | Lymphedema | Lymphedema NOS | (Elephantiasis) or (lymphedema [& NOS]) | (Elephantiasis) or (lymphoedema [& NOS]) (disorder) | (Elephantiasis) or (lymphoedema [& NOS]) | (Elephantiasis) or (lymphedema [& NOS]) | Elephantiasis | Lymphoedema NOS | Lymphoedema | Lymphedema | Lymphedema NOS | (Elephantiasis) or (lymphoedema [& NOS]) (disorder),SNOMEDCT ID:240820001 | SNOMEDCT ID:266334008 | SNOMEDCT ID:155485008,,,elephantiasis,MONDO:0005424,Elephantiasis,MeSH ID:D004604,podoconiosis | elephantiasis,DOID:0050138;DOID:4976,, +BMGC_DS00739,BMG_DS000948,Filarial Elephantiases,UMLS ID:C0013884,,,,,filarial elephantiasis,MONDO:0005761,"Elephantiasis, Filarial",MeSH ID:D004605,filarial elephantiasis,DOID:12211,, +BMGC_DS00740,BMG_DS000949,"Elliptocytosis, Hereditary",UMLS ID:C0013902,,,,,hereditary elliptocytosis,MONDO:0017319,"Elliptocytosis, Hereditary",MeSH ID:D004612,hereditary elliptocytosis,DOID:2373,, +BMGC_DS00741,BMG_DS000950,Ellis-Van Creveld Syndrome,UMLS ID:C0013903,,,,,Ellis-van Creveld syndrome,MONDO:0009162,Ellis-Van Creveld Syndrome,MeSH ID:D004613,Ellis-Van Creveld syndrome,DOID:12714,,OMIM ID:225500 +BMGC_DS00742,BMG_DS000953,Embryopathies,UMLS ID:C0013949,,,,,,,Fetal Diseases,MeSH ID:D005315,,,, +BMGC_DS00743,BMG_DS000954,Empty Sella Syndrome,UMLS ID:C0014008,,,,,empty sella syndrome,MONDO:0006740,Empty Sella Syndrome,MeSH ID:D004652,empty sella syndrome,DOID:3642,, +BMGC_DS00744,BMG_DS000956,"Empyema, Gallbladder",UMLS ID:C0014012,,,,,,,Cholecystitis,MeSH ID:D002764,,,, +BMGC_DS00745,BMG_DS000957,"Empyema, Pleural",UMLS ID:C0014013,,,,,pleural empyema,MONDO:0018667,"Empyema, Pleural",MeSH ID:D016724,pleural empyema,DOID:3798,, +BMGC_DS00746,BMG_DS000958,"Empyema, Tuberculous",UMLS ID:C0014014,,,,,tuberculous empyema,MONDO:0005999,"Empyema, Tuberculous",MeSH ID:D004654,tuberculous empyema,DOID:14305,, +BMGC_DS00747,BMG_DS000959,Encephalitis,UMLS ID:C0014038,Encephalitis | Encephalitis (disorder) | Myelitis | Encephalitis | Encephalitis/myelitis | Encephalitis &/or myelitis | Encephalitis &/or myelitis (disorder),SNOMEDCT ID:45170000 | SNOMEDCT ID:267682000,,,encephalitis,MONDO:0019956,Encephalitis,MeSH ID:D004660,encephalitis,DOID:9588,,OMIM ID:MTHU007426 +BMGC_DS00748,BMG_DS000960,,UMLS ID:C0014040,,,,,encephalitis lethargica,MONDO:0019384,,,von Economo's disease,DOID:5225,, +BMGC_DS00749,BMG_DS000961,"Encephalitis, California",UMLS ID:C0014053,,,,,,,"Encephalitis, California",MeSH ID:D004670,La Crosse encephalitis,DOID:0050118,, +BMGC_DS00750,BMG_DS000962,"Encephalitis, Central European",UMLS ID:C0014054,,,,,,,"Encephalitis, Tick-Borne",MeSH ID:D004675,tick-borne encephalitis,DOID:0050175,, +BMGC_DS00751,BMG_DS000963,Arbovirus encephalitis,UMLS ID:C0014055,Arbovirus encephalitis | Arboviral encephalitis | Arbovirus encephalitis (disorder) | Arbovirus encephalitis | Arbovirus encephalitis (disorder),SNOMEDCT ID:192687008 | SNOMEDCT ID:68197003,,,,,,,viral encephalitis,DOID:646,, +BMGC_DS00752,BMG_DS000964,Japanese Encephalitis,UMLS ID:C0014057,,,,,Japanese encephalitis,MONDO:0019209,"Encephalitis, Japanese",MeSH ID:D004672,Japanese encephalitis,DOID:10844,, +BMGC_DS00753,BMG_DS000966,"Encephalomyelitis, Acute Disseminated",UMLS ID:C0014059,,,,,acute disseminated encephalomyelitis,MONDO:0019383,"Encephalomyelitis, Acute Disseminated",MeSH ID:D004673,acute disseminated encephalomyelitis,DOID:639,, +BMGC_DS00754,BMG_DS000967,"Encephalitis, St. Louis",UMLS ID:C0014060,,,,,st. Louis encephalitis,MONDO:0005969,"Encephalitis, St. Louis",MeSH ID:D004674,St. Louis encephalitis,DOID:10845,, +BMGC_DS00755,BMG_DS000969,,UMLS ID:C0014065,,,,,cephalocele,MONDO:0017078,,,,,, +BMGC_DS00756,BMG_DS000971,,UMLS ID:C0014067,,,,,occipital encephalocele,MONDO:0017080,,,,,, +BMGC_DS00757,BMG_DS000972,Encephalomalacia,UMLS ID:C0014068,Encephalomalacia | Encephalomalacia (disorder),SNOMEDCT ID:58762006,,,encephalomalacia,MONDO:0006741,Encephalomalacia,MeSH ID:D004678,encephalomalacia,DOID:2034,,OMIM ID:MTHU061960 +BMGC_DS00758,BMG_DS000973,Encephalomyelitis,UMLS ID:C0014070,"Encephalomyelitis | Encephalomyelitis (disorder) | Encephalomyelitis | Myalgic encephalomyelitis | Encephalitis/myelitis NOS | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] (disorder) | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis | Encephalitis, myelitis and encephalomyelitis | Transverse myelitis | Myelitis | Encephalomyelitis | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis (disorder) | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] | Myalgic encephalomyelitis | Encephalitis/myelitis NOS | Encephalomyelitis | Encephalitis/myelitis: [NOS] or [encephalomyelitis & (myalgic)] (disorder)",SNOMEDCT ID:62950007 | SNOMEDCT ID:267684004 | SNOMEDCT ID:192682002 | SNOMEDCT ID:154991009,,,encephalomyelitis,MONDO:0005156,Encephalomyelitis,MeSH ID:D004679,encephalomyelitis,DOID:640,, +BMGC_DS00759,BMG_DS000976,"Leukoencephalitis, Acute Hemorrhagic",UMLS ID:C0014077,,,,,acute hemorrhagic leukoencephalitis,MONDO:0011716,"Leukoencephalitis, Acute Hemorrhagic",MeSH ID:D004684,acute hemorrhagic leukoencephalitis,DOID:10992,,OMIM ID:606752 +BMGC_DS00760,BMG_DS000977,Venezuelan equine encephalomyelitis,UMLS ID:C0014078,Venezuelan equine encephalitis | Venezuelan equine fever | VEE | Venezuelan equine encephalomyelitis | VEE - Venezuelan equine encephalitis | Venezuelan equine encephalitis (disorder),SNOMEDCT ID:89990001,,,Venezuelan equine encephalitis,MONDO:0006005,,,Venezuelan equine encephalitis,DOID:9584,, +BMGC_DS00761,BMG_DS000978,Enchondromatosis,UMLS ID:C0014084,Multiple enchondromata | Congenital enchondromatosis | Ollier disease | Dyschondroplasia | Ollier's disease | Enchondromatosis | Enchondromatosis (disorder) | Osteochondromatosis syndrome | Osteochondromatosis syndrome (disorder) | Pseudochondroplasia | Enchondromatosis | Ollier's disease | Osteopathia striata | Hypochondroplasia | Chondrodystophy NEC | Chondrodysplasia | Dyschondroplasia | Multiple enchondromata | (Multi enchondromata) or (enchondromat) or (Ollier dis) or (chondrodysplas) or (chondrodystophy NEC) or (hypochondroplas) or (osteopath striata) or (pseudochondroplas) or (dyschondroplas) | (Multi enchondromata) or (enchondromat) or (Ollier dis) or (chondrodysplas) or (chondrodystophy NEC) or (hypochondroplas) or (osteopath striata) or (pseudochondroplas) or (dyschondroplas) (disorder),SNOMEDCT ID:268274005 | SNOMEDCT ID:16535008 | SNOMEDCT ID:205469005,Benign osteogenic tumour of unspecified site,ICD11 ID:2E83.Z,Ollier disease,MONDO:0008145,Enchondromatosis,MeSH ID:D004687,Maffucci syndrome | Cenani-Lenz syndactyly syndrome,DOID:0060221;DOID:0090015,ICD10 ID:Q78.4,OMIM ID:166000 +BMGC_DS00762,BMG_DS000979,Endarteritis,UMLS ID:C0014100,Endarteritis | Endarteritis (disorder),SNOMEDCT ID:33806008,,,endarteritis,MONDO:0043576,Endarteritis,MeSH ID:D004692,,,, +BMGC_DS00763,BMG_DS000980,,UMLS ID:C0014116,,,,,,,,,atrioventricular septal defect,DOID:0050651,, +BMGC_DS00764,BMG_DS000981,Endocardial Fibroelastosis,UMLS ID:C0014117,,,,,endocardial fibroelastosis,MONDO:0009169,Endocardial Fibroelastosis,MeSH ID:D004695,endocardial fibroelastosis,DOID:12929,,OMIM ID:226000 +BMGC_DS00765,BMG_DS000982,Endocarditis,UMLS ID:C0014118,Endocarditis | Endocarditis (disorder),SNOMEDCT ID:56819008,,,endocarditis,MONDO:0005025,Endocarditis,MeSH ID:D004696,endocarditis,DOID:10314,, +BMGC_DS00766,BMG_DS000983,Bacterial Endocarditis,UMLS ID:C0014121,,,,,bacterial endocarditis,MONDO:0006669,"Endocarditis, Bacterial",MeSH ID:D004697,,,, +BMGC_DS00767,BMG_DS000985,Endocervicitis,UMLS ID:C0014127,Endocervicitis | Endocervicitis (disorder) | Cervicitis &/or endocervicitis | Endocervicitis | Cervicitis | Cervicitis/endocervicitis | Cervicitis &/or endocervicitis (disorder) | Cervicitis &/or endocervicitis | Endocervicitis | Cervicitis/endocervicitis | Cervicitis | Cervicitis &/or endocervicitis (disorder),SNOMEDCT ID:31354001 | SNOMEDCT ID:266654000 | SNOMEDCT ID:155980007,,,endocervicitis,MONDO:0003632,,,endocervicitis,DOID:5757,, +BMGC_DS00768,BMG_DS000986,Endocrine System Diseases,UMLS ID:C0014130,,,,,endocrine system disorder,MONDO:0005151,Endocrine System Diseases,MeSH ID:D004700,endocrine system disease,DOID:28,, +BMGC_DS00769,BMG_DS000987,,UMLS ID:C0014132,,,,,endocrine gland neoplasm,MONDO:0002082,,,endocrine gland cancer,DOID:170,, +BMGC_DS00770,BMG_DS000988,,UMLS ID:C0014145,,,,,yolk sac tumor,MONDO:0005744,,,endodermal sinus tumor,DOID:1911,, +BMGC_DS00771,BMG_DS000989,,UMLS ID:C0014170,,,,,endometrium neoplasm,MONDO:0021251,,,endometrial cancer,DOID:1380,, +BMGC_DS00772,BMG_DS000990,Endometrial Hyperplasia,UMLS ID:C0014173,,,,,obsolete endometrial hyperplasia,MONDO:0041161,Endometrial Hyperplasia,MeSH ID:D004714,endometrial hyperplasia,DOID:0080365,, +BMGC_DS00773,BMG_DS000991,Endometriosis,UMLS ID:C0014175,Endometriosis (& [adenomyosis]) | Adenomyosis - uterine endomet. | Endometriosis | Adenomyosis | Endometriosis (& [adenomyosis]) (disorder) | Endometriosis (clinical) | Endometriosis (disorder) | Endometriosis | Endometriosis (morphologic abnormality) | Endometriosis | Endometriosis | External endometriosis | Endometriosis (morphologic abnormality) | Endometriosis (& [adenomyosis]) | Adenomyosis - uterine endomet. | Adenomyosis | Endometriosis | Endometriosis (& [adenomyosis]) (disorder) | Endometriosis | Endometriosis (disorder) | Endometriosis (disorder) | Endometriosis,SNOMEDCT ID:198246007 | SNOMEDCT ID:129103003 | SNOMEDCT ID:396224008 | SNOMEDCT ID:103677003 | SNOMEDCT ID:155988000 | SNOMEDCT ID:266588002 | SNOMEDCT ID:11871002,,,endometriosis,MONDO:0005133,Endometriosis,MeSH ID:D004715,endometriosis,DOID:289,ICD10 ID:N80,OMIM ID:MTHU036719 +BMGC_DS00774,BMG_DS000992,Endometriosis of fallopian tube,UMLS ID:C0014177,Endometriosis of fallopian tube | Endometriosis of fallopian tube (disorder),SNOMEDCT ID:22611009,Endometriosis of fallopian tube,ICD11 ID:GA10.B3,fallopian tube endometriosis,MONDO:0001282,,,fallopian tube endometriosis,DOID:11424,ICD10 ID:N80.2, +BMGC_DS00775,BMG_DS000993,Endometritis,UMLS ID:C0014179,"Endometritis | Endometritis (disorder) | Endometritis (& [excluding cervix]) | Endometritis | Endometritis - excl. cervix | Endometritis, excluding cervix | Endometritis (& [excluding cervix]) (disorder)",SNOMEDCT ID:78623009 | SNOMEDCT ID:266652001 | SNOMEDCT ID:155975003,,,endometritis,MONDO:0000918,Endometritis,MeSH ID:D004716,endometritis,DOID:1002,, +BMGC_DS00776,BMG_DS000996,Endophthalmitis,UMLS ID:C0014236,Endophthalmitis | Endophthalmitis (disorder),SNOMEDCT ID:1847009,,,endophthalmitis,MONDO:0016047,Endophthalmitis,MeSH ID:D009877,endophthalmitis,DOID:4692,, +BMGC_DS00777,BMG_DS000997,Parasitic endophthalmitis,UMLS ID:C0014238,Parasitic endophthalmitis | Parasitic endophthalmitis (disorder),SNOMEDCT ID:57100005,,,parasitic endophthalmitis,MONDO:0024315,,,parasitic infectious disease,DOID:1398,, +BMGC_DS00778,BMG_DS000998,Enophthalmos,UMLS ID:C0014306,Enophthalmos | Enophthalmia | Enophthalmos (disorder) | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | Enophthalmos | Orbit disorders | Disorders of the orbit | Exophthalmos | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder) | Enophthalmos | Exophthalmos | Disorders of the orbit | Orbit disorders | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder),SNOMEDCT ID:80093006 | SNOMEDCT ID:155200004 | SNOMEDCT ID:267746003,"Displacement of eyeball, unspecified",ICD11 ID:9A20.Z,,,Enophthalmos,MeSH ID:D015841,enophthalmos,DOID:11175,ICD10 ID:H05.4,OMIM ID:MTHU036831 +BMGC_DS00779,BMG_DS000999,Entamoebiasis,UMLS ID:C0014324,,,,,,,Entamoebiasis,MeSH ID:D004749,,,, +BMGC_DS00780,BMG_DS001001,Enteritis,UMLS ID:C0014335,"Inflammatory disorder of intestine | Inflammatory disorder of intestine (disorder) | Enteritis | Enteritis, inflammatory disorder of small intestine | Inflammation of small intestine (disorder) | Enteritis of small intestine | Inflammation of small intestine",SNOMEDCT ID:126767009 | SNOMEDCT ID:64613007,,,enteritis,MONDO:0043579,Enteritis,MeSH ID:D004751,,,,OMIM ID:MTHU033961 +BMGC_DS00781,BMG_DS001004,Enterobacteriaceae Infections,UMLS ID:C0014347,,,,,,,Enterobacteriaceae Infections,MeSH ID:D004756,,,, +BMGC_DS00782,BMG_DS001005,Enterocolitis,UMLS ID:C0014356,"Enterocolitis | Enterocolitis, inflammation involving both small intestine and colon | Inflammation of small intestine and colon (disorder) | Inflammation of small intestine and colon | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) | Enterocolitis | Other non-infective inflammatory gastroenteritis and colitis | Gastroenteritis | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) (disorder)",SNOMEDCT ID:43752006 | SNOMEDCT ID:197010007,,,enterocolitis,MONDO:0009172,Enterocolitis,MeSH ID:D004760,,,,OMIM ID:MTHU017872 | OMIM ID:226150 +BMGC_DS00783,BMG_DS001006,"Enterocolitis, Pseudomembranous",UMLS ID:C0014358,,,,,,,"Enterocolitis, Pseudomembranous",MeSH ID:D004761,Clostridium difficile colitis,DOID:0060185,, +BMGC_DS00784,BMG_DS001009,Enterovirus Infections,UMLS ID:C0014378,,,,,enterovirus infectious disease,MONDO:0005747,Enterovirus Infections,MeSH ID:D004769,,,, +BMGC_DS00785,BMG_DS001010,Entropion,UMLS ID:C0014390,Entropion | Eyelid inverted | Eyelashes turned in | Eyelid turned in | Entropion of eyelid | Folded in eyelid | Entropion of eyelid (disorder) | Entropion | Entropion (disorder),SNOMEDCT ID:33168009 | SNOMEDCT ID:155177005 | SNOMEDCT ID:246821008,,,entropion,MONDO:0001519,Entropion,MeSH ID:D004774,entropion,DOID:12397,,OMIM ID:MTHU004143 +BMGC_DS00786,BMG_DS001011,Enuresis,UMLS ID:C0014394,Enuresis | Enuresis (finding) | Enuresis (& [bedwetting]) | Bedwetting | Enuresis | Enuresis (& [bedwetting]) (disorder) | Enuresis | Bedwetting | Enuresis (& [bedwetting]) | Enuresis (& [bedwetting]) (disorder) | Bed wetting | Bedwetting | Nocturnal incontinence of urine | Wets bed | Nocturnal enuresis | Nocturnal enuresis (finding),SNOMEDCT ID:139398002 | SNOMEDCT ID:154929003 | SNOMEDCT ID:68191002 | SNOMEDCT ID:268776008 | SNOMEDCT ID:162121000 | SNOMEDCT ID:8009008,,,enuresis,MONDO:0024290,Enuresis,MeSH ID:D004775,,,,OMIM ID:MTHU037203 +BMGC_DS00787,BMG_DS001013,Eosinophilia,UMLS ID:C0014457,Eosinophil count raised | Eosinophilia | Eosinophilic disorder | Eosinophilic leucocytosis | Eosinophilic leukocytosis | Eosinophil count raised (finding) | Eosinophilia | Eosinophilia (disorder) | Decreased blood eosinophil number | Blood eosinophil number below reference range | Blood eosinophil number below reference range (finding),SNOMEDCT ID:165524009 | SNOMEDCT ID:27955006 | SNOMEDCT ID:418928000,"Eosinophilia, unspecified",ICD11 ID:4B03.Z,,,Eosinophilia,MeSH ID:D004802,hypereosinophilic syndrome,DOID:999,ICD10 ID:D72.1,OMIM ID:MTHU004968 +BMGC_DS00788,BMG_DS001014,"Eosinophilia, Tropical",UMLS ID:C0014458,,,,,,,Eosinophilia,MeSH ID:D004802,,,, +BMGC_DS00789,BMG_DS001017,,UMLS ID:C0014474,,,,,ependymoma,MONDO:0016698,,,benign ependymoma,DOID:4844,, +BMGC_DS00790,BMG_DS001018,Eperythrozoonosis,UMLS ID:C0014476,Eperythrozoonosis | Eperythrozoonosis (disorder),SNOMEDCT ID:10865002,,,,,Mycoplasma Infections,MeSH ID:D009175,,,, +BMGC_DS00791,BMG_DS001020,Epicondylitis,UMLS ID:C0014488,(Epicondylitis &/or tennis elbow) or (golfers' elbow) | Golfers' elbow | Tennis elbow - epicondylitis | Epicondylitis | Golfer's elbow | Tennis elbow | (Epicondylitis &/or tennis elbow) or (golfers' elbow) (disorder) | Golfers' elbow | Golfer's elbow | Tennis elbow | Epicondylitis | Tennis elbow - epicondylitis | (Epicondylitis &/or tennis elbow) or (golfers' elbow) | (Epicondylitis &/or tennis elbow) or (golfers' elbow) (disorder) | Epicondylitis | Epicondylitis (disorder),SNOMEDCT ID:268088003 | SNOMEDCT ID:156659008 | SNOMEDCT ID:73583000,,,epicondylitis,MONDO:0001875,,,epicondylitis,DOID:14087,, +BMGC_DS00792,BMG_DS001021,Epidemic keratoconjunctivitis,UMLS ID:C0014493,Epidemic keratoconjunctivitis | Shipyard eye | Epidemic keratoconjunctivitis (disorder) | Virus keratoconjunctivitis | EKC - epidemic keratoconjunctivitis,SNOMEDCT ID:60548004,Conjunctivitis due to adenovirus,ICD11 ID:1D84.0,epidemic keratoconjunctivitis,MONDO:0001615,,,shipyard eye,DOID:13014,ICD10 ID:B30.0, +BMGC_DS00793,BMG_DS001024,Toxic Epidermal Necrolysis,UMLS ID:C0014518,,,,,toxic epidermal necrolysis,MONDO:0019810,Stevens-Johnson Syndrome,MeSH ID:D013262,,,, +BMGC_DS00794,BMG_DS001026,,UMLS ID:C0014522,,,,,epidermodysplasia verruciformis,MONDO:0009176,,,epidermodysplasia verruciformis,DOID:13777,, +BMGC_DS00795,BMG_DS001027,,UMLS ID:C0014527,,,,,epidermolysis bullosa,MONDO:0006541,,,epidermolysis bullosa,DOID:2730,, +BMGC_DS00796,BMG_DS001028,Epidermophytosis,UMLS ID:C0014531,Epidermophytosis | Epidermophyton floccosum infection | Tinea caused by Epidermophyton floccosum | Tinea caused by Epidermophyton floccosum (disorder),SNOMEDCT ID:403065006,,,,,Tinea,MeSH ID:D014005,,,, +BMGC_DS00797,BMG_DS001029,Epididymitis,UMLS ID:C0014534,Epididymitis | Epididymitis (disorder),SNOMEDCT ID:31070006 | SNOMEDCT ID:155914009,,,epididymitis,MONDO:0004779,Epididymitis,MeSH ID:D004823,epididymitis,DOID:9402,ICD10 ID:N45.1,OMIM ID:MTHU038084 +BMGC_DS00798,BMG_DS001030,,UMLS ID:C0014536,,,,,epidural spinal canal neoplasm,MONDO:0002713,,,epidural spinal canal neoplasm,DOID:3618,, +BMGC_DS00799,BMG_DS001031,Epiglottitis,UMLS ID:C0014541,Epiglottitis | Epiglottitis (disorder),SNOMEDCT ID:80384002,,,epiglottitis,MONDO:0005753,Epiglottitis,MeSH ID:D004826,epiglottitis,DOID:9398,,OMIM ID:MTHU078414 +BMGC_DS00800,BMG_DS001032,Epilepsy,UMLS ID:C0014544,(Epilepsy) or (epileptic attack) | Attack - epileptic | Epileptic attack | Epilepsy | (Epilepsy) or (epileptic attack) (disorder) | Epilepsy | Epilepsy (disorder),SNOMEDCT ID:267698007 | SNOMEDCT ID:84757009,,,epilepsy,MONDO:0005027,Epilepsy,MeSH ID:D004827,epilepsy,DOID:1826,,OMIM ID:MTHU022799 +BMGC_DS00801,BMG_DS001033,"Epilepsies, Partial",UMLS ID:C0014547,,,,,focal epilepsy,MONDO:0005384,"Epilepsies, Partial",MeSH ID:D004828,focal epilepsy,DOID:2234,, +BMGC_DS00802,BMG_DS001034,"Epilepsy, Generalized",UMLS ID:C0014548,,,,,generalized epilepsy,MONDO:0100574,"Epilepsy, Generalized",MeSH ID:D004829,idiopathic generalized epilepsy,DOID:1827,, +BMGC_DS00803,BMG_DS001035,Tonic-Clonic Epilepsy,UMLS ID:C0014549,,,,,epilepsy with generalized tonic-clonic seizures,MONDO:0005754,"Epilepsy, Tonic-Clonic",MeSH ID:D004830,epilepsy with generalized tonic-clonic seizures,DOID:7725,, +BMGC_DS00804,BMG_DS001036,Myoclonic Epilepsy,UMLS ID:C0014550,,,,,,,"Epilepsies, Myoclonic",MeSH ID:D004831,early myoclonic encephalopathy,DOID:308,, +BMGC_DS00805,BMG_DS001037,Absence Epilepsy,UMLS ID:C0014553,,,,,absence epilepsy,MONDO:0850093,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy | childhood absence epilepsy,DOID:1825;DOID:0070309,, +BMGC_DS00806,BMG_DS001038,"Epilepsy, Temporal Lobe",UMLS ID:C0014556,,,,,temporal lobe epilepsy,MONDO:0005115,"Epilepsy, Temporal Lobe",MeSH ID:D004833,temporal lobe epilepsy,DOID:3328,, +BMGC_DS00807,BMG_DS001040,Uncinate Epilepsy,UMLS ID:C0014558,,,,,,,"Epilepsy, Temporal Lobe",MeSH ID:D004833,,,, +BMGC_DS00808,BMG_DS001049,Erysipelas,UMLS ID:C0014733,Erysipelas | Patch of erysipelas | Erysipelas (disorder) | Infection caused by Erysipelothrix rhusiopathiae | Infection caused by Erysipelothrix insidiosa | Infection caused by Erysipelothrix rhusiopathiae (disorder) | Erysipelas | Erysipelas (disorder),SNOMEDCT ID:44653001 | SNOMEDCT ID:266005008 | SNOMEDCT ID:154305002,,,erysipelas,MONDO:0001266,Erysipelas,MeSH ID:D004886,erysipelas,DOID:11330,ICD10 ID:A46,OMIM ID:MTHU037335 +BMGC_DS00809,BMG_DS001053,Erythema Multiforme,UMLS ID:C0014742,,,,,erythema multiforme,MONDO:0006545,Erythema Multiforme,MeSH ID:D004892,erythema multiforme,DOID:0050185,, +BMGC_DS00810,BMG_DS001054,Erythema Nodosum,UMLS ID:C0014743,,,,,erythema nodosum,MONDO:0850231,Erythema Nodosum,MeSH ID:D004893,erythema nodosum,DOID:0080750,, +BMGC_DS00811,BMG_DS001056,Erythematosquamous dermatosis,UMLS ID:C0014747,Erythematosquamous dermatosis | Erythematosquamous dermatosis (disorder),SNOMEDCT ID:54792008 | SNOMEDCT ID:200762004,,,erythematosquamous dermatosis,MONDO:0006546,,,erythematosquamous dermatosis,DOID:9097,, +BMGC_DS00812,BMG_DS001057,Erythrasma,UMLS ID:C0014752,(Actinomycosis (& [infections]) or (erythrasma) | Erythrasma | Actinomycotic infections | Actinomycosis | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | (Actinomycosis (& [infections]) or (erythrasma) | Actinomycosis | Erythrasma | Actinomycotic infections | (Actinomycosis (& [infections]) or (erythrasma) (disorder) | Erythrasma | Erythrasma (disorder) | Cutaneous actinomycosis | Trichomycosis axillaris | Erythrasma | (Cutaneous actinomycosis) or (erythrasma) or (trichomycosis axillaris) | (Cutaneous actinomycosis) or (erythrasma) or (trichomycosis axillaris) (disorder),SNOMEDCT ID:266185008 | SNOMEDCT ID:154314007 | SNOMEDCT ID:200726000 | SNOMEDCT ID:186393009 | SNOMEDCT ID:111797001 | SNOMEDCT ID:238418005,Nonpyogenic bacterial infections of the skin,ICD11 ID:1C44,erythrasma,MONDO:0002885,Erythrasma,MeSH ID:D004894,erythrasma,DOID:4131,ICD10 ID:L08.1, +BMGC_DS00813,BMG_DS001058,"Erythroblastosis, Fetal",UMLS ID:C0014761,,,,,fetal erythroblastosis,MONDO:0006760,"Erythroblastosis, Fetal",MeSH ID:D004899,hemolytic disease of the fetus,DOID:1098,, +BMGC_DS00814,BMG_DS001059,"Erythroderma, Maculopapular",UMLS ID:C0014799,,,,,,,Parapsoriasis,MeSH ID:D010267,,,, +BMGC_DS00815,BMG_DS001061,Erythromelalgia,UMLS ID:C0014804,Erythromelalgia | Erythromelalgia (disorder) | Erythromelalgia | Weir Mitchell's disease | Erythralgia | Erythermalgia | Erythromelalgia (disorder),SNOMEDCT ID:238777005 | SNOMEDCT ID:37151006,,,erythromelalgia,MONDO:0016028,Erythromelalgia,MeSH ID:D004916,erythromelalgia,DOID:9240,ICD10 ID:I73.81, +BMGC_DS00816,BMG_DS001062,Primary Erythermalgia,UMLS ID:C0014805,,,,,primary erythermalgia,MONDO:0007571,Erythromelalgia,MeSH ID:D004916,,,,OMIM ID:133020 +BMGC_DS00817,BMG_DS001065,Escherichia coli Infections,UMLS ID:C0014836,,,,,escherichia coli infection,MONDO:0020920,Escherichia coli Infections,MeSH ID:D004927,,,, +BMGC_DS00818,BMG_DS001066,Esophageal Achalasia,UMLS ID:C0014848,,,,,achalasia,MONDO:0008698,Esophageal Achalasia,MeSH ID:D004931,achalasia,DOID:9164,, +BMGC_DS00819,BMG_DS001067,,UMLS ID:C0014850,,,,,esophageal atresia,MONDO:0001044,,,esophageal atresia,DOID:10485,, +BMGC_DS00820,BMG_DS001068,Esophageal Diseases,UMLS ID:C0014852,,,,,esophageal disorder,MONDO:0003749,Esophageal Diseases,MeSH ID:D004935,esophageal disease,DOID:6050,, +BMGC_DS00821,BMG_DS001069,,UMLS ID:C0014858,,,,,dyskinesia of esophagus,MONDO:0004729,,,dyskinesia of esophagus,DOID:9192,, +BMGC_DS00822,BMG_DS001070,,UMLS ID:C0014859,,,,,neoplasm of esophagus,MONDO:0021355,,,esophageal cancer,DOID:5041,, +BMGC_DS00823,BMG_DS001072,Esophageal Stenosis,UMLS ID:C0014866,,,,,,,Esophageal Stenosis,MeSH ID:D004940,,,, +BMGC_DS00824,BMG_DS001073,Esophageal Varices,UMLS ID:C0014867,,,,,esophageal varices,MONDO:0001221,Esophageal and Gastric Varices,MeSH ID:D004932,,,, +BMGC_DS00825,BMG_DS001074,Esophagitis,UMLS ID:C0014868,Esophagitis | Oesophagitis | Esophagitis (disorder) | Esophagitis (& [reflux]) or esophageal reflux | Gastro-esophageal reflux | Esophageal reflux | Esophagitis | Reflux esophagitis | Oesophagitis (& [reflux]) or oesophageal reflux | Gastro-oesophageal reflux | Oesophagitis | Reflux oesophagitis | Oesophageal reflux | Oesophagitis (& [reflux]) or oesophageal reflux (disorder) | Esophagitis (& [reflux]) or esophageal reflux | Oesophagitis (& [reflux]) or oesophageal reflux | Gastro-esophageal reflux | Reflux esophagitis | Esophageal reflux | Esophagitis | Gastro-oesophageal reflux | Reflux oesophagitis | Oesophageal reflux | Oesophagitis | Oesophagitis (& [reflux]) or oesophageal reflux (disorder),SNOMEDCT ID:16761005 | SNOMEDCT ID:266498005 | SNOMEDCT ID:155673008,,,esophagitis,MONDO:0001409,Esophagitis,MeSH ID:D004941,esophagitis,DOID:11963,ICD10 ID:K20,OMIM ID:MTHU018345 +BMGC_DS00826,BMG_DS001075,Peptic Esophagitis,UMLS ID:C0014869,,,,,peptic esophagitis,MONDO:0006896,"Esophagitis, Peptic",MeSH ID:D004942,peptic esophagitis,DOID:13976,, +BMGC_DS00827,BMG_DS001076,Esotropia,UMLS ID:C0014877,Esotropia | Convergent strabismus | Cross-eye | Esotropia (disorder) | Convergent squint | Esotropia | Esotropia (disorder),SNOMEDCT ID:16596007 | SNOMEDCT ID:155193001,Esotropia,ICD11 ID:9C80.0,esotropia,MONDO:0004896,Esotropia,MeSH ID:D004948,esotropia,DOID:9840,ICD10 ID:H50.0,OMIM ID:MTHU036341 +BMGC_DS00828,BMG_DS001078,Ethmoid Sinusitis,UMLS ID:C0015029,,,,,ethmoid sinusitis,MONDO:0005756,Ethmoid Sinusitis,MeSH ID:D015521,ethmoid sinusitis,DOID:9507,, +BMGC_DS00829,BMG_DS001079,Euthyroid Sick Syndromes,UMLS ID:C0015190,,,,,euthyroid sick syndrome,MONDO:0006755,Euthyroid Sick Syndromes,MeSH ID:D005067,euthyroid sick syndrome,DOID:2856,, +BMGC_DS00830,BMG_DS001080,,UMLS ID:C0015230,,,,,exanthem,MONDO:0006547,,,exanthem,DOID:0050486,, +BMGC_DS00831,BMG_DS001081,Exanthema Subitum,UMLS ID:C0015231,,,,,exanthema subitum,MONDO:0000337,Exanthema Subitum,MeSH ID:D005077,exanthema subitum,DOID:0050495,, +BMGC_DS00832,BMG_DS001084,Exophthalmos,UMLS ID:C0015300,Enophthalmos | Exophthalmos | Disorders of the orbit | Orbit disorders | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder) | Exophthalmos | Exophthalmia | Proptosis | Exophthalmos (disorder) | Eye displaced forwards | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) | Enophthalmos | Orbit disorders | Disorders of the orbit | Exophthalmos | Disorders of the orbit (& [enophthalmos] or [exophthalmos]) (disorder),SNOMEDCT ID:267746003 | SNOMEDCT ID:18265008 | SNOMEDCT ID:155200004,,,exophthalmos,MONDO:0004770,Exophthalmos,MeSH ID:D005094,,,,OMIM ID:MTHU005786 +BMGC_DS00833,BMG_DS001086,,UMLS ID:C0015306,,,,,hereditary multiple osteochondromas,MONDO:0005508,,,hereditary multiple exostoses,DOID:206,, +BMGC_DS00834,BMG_DS001087,Exotropia,UMLS ID:C0015310,Exotropia | Exotropia (disorder) | Exotropia (disorder) | Exotropia | Divergent strabismus | External strabismus | Divergent squint | XT - Exotropia | Exotropia | Divergent concomitant strabismus | Divergent strabismus | External strabismus | Exotropia (disorder) | Divergent squint,SNOMEDCT ID:155194007 | SNOMEDCT ID:399054005 | SNOMEDCT ID:75400001,Exotropia,ICD11 ID:9C80.1,exotropia,MONDO:0001286,Exotropia,MeSH ID:D005099,exotropia,DOID:1143,ICD10 ID:H50.1,OMIM ID:MTHU036896 +BMGC_DS00835,BMG_DS001089,Extrapyramidal Disorders,UMLS ID:C0015371,,,,,,,Basal Ganglia Diseases,MeSH ID:D001480,,,, +BMGC_DS00836,BMG_DS001090,Disorder of eye,UMLS ID:C0015397,Disorder of eye proper (disorder) | Disorder of eye | Disease of eyeball | Disorder of globe | Disorder of eyeball | Eye disorder | Disorder of eye proper | Disease of eye | Disease of eye (disorder),SNOMEDCT ID:371405004 | SNOMEDCT ID:79517001,,,disorder of orbital region,MONDO:0002022,,,eye disease,DOID:5614,, +BMGC_DS00837,BMG_DS001091,"Eye Diseases, Hereditary",UMLS ID:C0015398,,,,,,,"Eye Diseases, Hereditary",MeSH ID:D015785,,,, +BMGC_DS00838,BMG_DS001092,Eye Infection,UMLS ID:C0015403,,,,,eye infectious disorder,MONDO:0043885,Eye Infections,MeSH ID:D015817,,,, +BMGC_DS00839,BMG_DS001093,"Eye Infections, Bacterial",UMLS ID:C0015404,,,,,,,"Eye Infections, Bacterial",MeSH ID:D015818,,,, +BMGC_DS00840,BMG_DS001094,,UMLS ID:C0015405,,,,,fungal infection of eye,MONDO:0020944,,,,,, +BMGC_DS00841,BMG_DS001096,"Eye Infections, Viral",UMLS ID:C0015407,,,,,viral eye infection,MONDO:0020950,"Eye Infections, Viral",MeSH ID:D015828,,,, +BMGC_DS00842,BMG_DS001097,,UMLS ID:C0015414,,,,,eye neoplasm,MONDO:0021220,,,ocular cancer,DOID:2174,, +BMGC_DS00843,BMG_DS001098,Eyelid Diseases,UMLS ID:C0015423,,,,,eyelid disorder,MONDO:0003382,Eyelid Diseases,MeSH ID:D005141,eyelid disease,DOID:530,, +BMGC_DS00844,BMG_DS001099,,UMLS ID:C0015424,,,,,eyelid neoplasm,MONDO:0002235,,,eyelid benign neoplasm,DOID:2173,, +BMGC_DS00845,BMG_DS001100,Facial Dermatoses,UMLS ID:C0015456,,,,,facial dermatosis,MONDO:0006548,Facial Dermatoses,MeSH ID:D005148,facial dermatosis,DOID:3134,, +BMGC_DS00846,BMG_DS001101,Facial Hemiatrophy,UMLS ID:C0015458,,,,,facial hemiatrophy,MONDO:0007710,Facial Hemiatrophy,MeSH ID:D005150,facial hemiatrophy,DOID:1757,,OMIM ID:141300 +BMGC_DS00847,BMG_DS001102,Facial Nerve Diseases,UMLS ID:C0015464,,,,,facial nerve disorder,MONDO:0002098,Facial Nerve Diseases,MeSH ID:D005155,facial nerve disease,DOID:1756,, +BMGC_DS00848,BMG_DS001103,Facial Neuralgia,UMLS ID:C0015467,,,,,facial neuralgia,MONDO:0001818,Facial Neuralgia,MeSH ID:D005156,facial neuralgia,DOID:13865,, +BMGC_DS00849,BMG_DS001104,Facial paralysis,UMLS ID:C0015469,,,,,facial paralysis,MONDO:0001835,,,facial paralysis,DOID:13934,,OMIM ID:MTHU037394 +BMGC_DS00850,BMG_DS001106,,UMLS ID:C0015481,,,,,,,,,factitious disorder,DOID:1766,, +BMGC_DS00851,BMG_DS001107,,UMLS ID:C0015499,,,,,congenital factor V deficiency,MONDO:0009210,,,factor V deficiency,DOID:2216,,OMIM ID:227400 +BMGC_DS00852,BMG_DS001108,Factor VII Deficiency,UMLS ID:C0015503,,,,,factor VII deficiency,MONDO:0002244,Factor VII Deficiency,MeSH ID:D005168,factor VII deficiency,DOID:2215,, +BMGC_DS00853,BMG_DS001109,Factor X Deficiency,UMLS ID:C0015519,,,,,factor X deficiency,MONDO:0002247,Factor X Deficiency,MeSH ID:D005171,factor X deficiency,DOID:2222,, +BMGC_DS00854,BMG_DS001110,,UMLS ID:C0015523,,,,,congenital factor XI deficiency,MONDO:0012897,,,factor XI deficiency,DOID:2229,,OMIM ID:612416 +BMGC_DS00855,BMG_DS001111,Factor XII Deficiency,UMLS ID:C0015526,,,,,congenital factor XII deficiency,MONDO:0009315,Factor XII Deficiency,MeSH ID:D005175,factor XII deficiency,DOID:2231,,OMIM ID:234000 +BMGC_DS00856,BMG_DS001112,,UMLS ID:C0015530,,,,,congenital factor XIII deficiency,MONDO:0018029,,,factor XIII deficiency,DOID:2211,, +BMGC_DS00857,BMG_DS001113,Failure to Thrive,UMLS ID:C0015544,,,,,,,Failure to Thrive,MeSH ID:D005183,,,,OMIM ID:MTHU076871 +BMGC_DS00858,BMG_DS001114,Fallopian Tube Diseases,UMLS ID:C0015556,,,,,fallopian tube disorder,MONDO:0002156,Fallopian Tube Diseases,MeSH ID:D005184,fallopian tube disease,DOID:1962,, +BMGC_DS00859,BMG_DS001115,,UMLS ID:C0015558,,,,,fallopian tube neoplasm,MONDO:0021092,,,fallopian tube cancer,DOID:1964,, +BMGC_DS00860,BMG_DS001116,Fanconi Syndrome,UMLS ID:C0015624,,,,,Fanconi renotubular syndrome,MONDO:0001083,Fanconi Syndrome,MeSH ID:D005198,Fanconi syndrome,DOID:1062,, +BMGC_DS00861,BMG_DS001117,Fanconi Anemia,UMLS ID:C0015625,,,,,Fanconi anemia,MONDO:0019391,Fanconi Anemia,MeSH ID:D005199,Fanconi anemia,DOID:13636,, +BMGC_DS00862,BMG_DS001119,Farmer's Lung,UMLS ID:C0015634,,,,,farmer's lung disease,MONDO:0001971,Farmer's Lung,MeSH ID:D005203,farmer's lung,DOID:14453,, +BMGC_DS00863,BMG_DS001120,Fascicular Block,UMLS ID:C0015643,,,,,,,Bundle-Branch Block,MeSH ID:D002037,,,, +BMGC_DS00864,BMG_DS001121,Fasciitis,UMLS ID:C0015645,Fasciitis | Fasciitis (disorder),SNOMEDCT ID:36948007,,,fasciitis,MONDO:0004830,Fasciitis,MeSH ID:D005208,fasciitis,DOID:9598,, +BMGC_DS00865,BMG_DS001122,Fascioliasis,UMLS ID:C0015652,Liver flukes NOS | Sheep liver fluke infection | Fascioliasis | (Fascioliasis) or (liver fluke: [sheep infection] or [NOS]) | (Fascioliasis) or (liver fluke: [sheep infection] or [NOS]) (disorder) | Infection by Fasciola | Fascioliasis | Infection caused by Fasciola | Infection caused by Fasciola (disorder),SNOMEDCT ID:187125007 | SNOMEDCT ID:111922007,Fascioliasis,ICD11 ID:1F82,fascioliasis,MONDO:0004668,Fascioliasis,MeSH ID:D005211,fascioliasis,DOID:885,ICD10 ID:B66.3, +BMGC_DS00866,BMG_DS001123,Fascioloidiasis,UMLS ID:C0015655,,,,,fascioloidiasis,MONDO:0005759,Fascioloidiasis,MeSH ID:D005213,fascioloidiasis,DOID:1217,, +BMGC_DS00867,BMG_DS001124,Fasciolopsiasis,UMLS ID:C0015656,Infection by Fasciolopsis buski | Fasciolopsiasis | Giant intestinal fluke infection | Intestinal distomiasis | Fasciolopsiosis | Infection caused by Fasciolopsis buski (disorder) | Infection caused by Fasciolopsis buski,SNOMEDCT ID:54266002,Fasciolopsiasis,ICD11 ID:1F83,fasciolopsiasis,MONDO:0004672,Trematode Infections,MeSH ID:D014201,fasciolopsiasis,DOID:888,ICD10 ID:B66.5, +BMGC_DS00868,BMG_DS001125,Chronic Fatigue Syndrome,UMLS ID:C0015674,,,,,myalgic encephalomeyelitis/chronic fatigue syndrome,MONDO:0005404,"Fatigue Syndrome, Chronic",MeSH ID:D015673,chronic fatigue syndrome,DOID:8544,, +BMGC_DS00869,BMG_DS001126,Fatty Liver,UMLS ID:C0015695,,,,,,,Fatty Liver,MeSH ID:D005234,steatotic liver disease,DOID:9452,, +BMGC_DS00870,BMG_DS001127,"Fatty Liver, Alcoholic",UMLS ID:C0015696,,,,,alcoholic fatty liver disease,MONDO:0021104,"Fatty Liver, Alcoholic",MeSH ID:D005235,steatotic liver disease,DOID:9452,, +BMGC_DS00871,BMG_DS001128,Favism,UMLS ID:C0015702,Hereditary elliptocytosis | Hereditary stomatocytosis | Favism | Other hered. haem. anaemias | Other hered. hem. anemias | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other hemalytic anemias]) or (favism) | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) (disorder) | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other hemalytic anemias]) or (favism) | Favism | Hereditary stomatocytosis | Hereditary elliptocytosis | Other hered. hem. anemias | Other hered. haem. anaemias | (Hereditary: [elliptocytosis] or [stomatocytosis] or [other haemalytic anaemias]) or (favism) (disorder) | Vicia faba poisoning | Vicia faba poisoning (disorder) | Favism | Favism (disorder),SNOMEDCT ID:267558001 | SNOMEDCT ID:154801000 | SNOMEDCT ID:76500009 | SNOMEDCT ID:191172001,Haemolytic anaemia due to glucose6phosphate dehydrogenase deficiency,ICD11 ID:3A10.00,favism,MONDO:0001761,Favism,MeSH ID:D005236,favism,DOID:13628,ICD10 ID:D55.0, +BMGC_DS00872,BMG_DS001129,Favre-Racouchot Syndrome,UMLS ID:C0015704,,,,,,,Facial Dermatoses,MeSH ID:D005148,,,, +BMGC_DS00873,BMG_DS001130,,UMLS ID:C0015708,,,,,progressive bulbar palsy of childhood,MONDO:0100428,,,,,,OMIM ID:211500 +BMGC_DS00874,BMG_DS001131,Fecal Incontinence,UMLS ID:C0015732,,,,,,,Fecal Incontinence,MeSH ID:D005242,,,, +BMGC_DS00875,BMG_DS001133,Felty Syndrome,UMLS ID:C0015773,,,,,Felty syndrome,MONDO:0007603,Felty Syndrome,MeSH ID:D005258,Felty's syndrome,DOID:11042,,OMIM ID:134750 +BMGC_DS00876,BMG_DS001134,,UMLS ID:C0015807,,,,,neoplasm of femur,MONDO:0021579,,,femoral cancer,DOID:5546,, +BMGC_DS00877,BMG_DS001135,Femur Head Necrosis,UMLS ID:C0015814,,,,,,,Femur Head Necrosis,MeSH ID:D005271,,,, +BMGC_DS00878,BMG_DS001136,Fetal Alcohol Syndrome,UMLS ID:C0015923,,,,,fetal alcohol syndrome,MONDO:0016011,Fetal Alcohol Spectrum Disorders,MeSH ID:D063647,,,, +BMGC_DS00879,BMG_DS001137,Fetal Diseases,UMLS ID:C0015929,,,,,,,Fetal Diseases,MeSH ID:D005315,,,, +BMGC_DS00880,BMG_DS001139,,UMLS ID:C0015934,,,,,fetal growth restriction,MONDO:0005030,,,,,, +BMGC_DS00881,BMG_DS001140,Fetal Resorption,UMLS ID:C0015951,,,,,,,Fetal Resorption,MeSH ID:D005327,,,, +BMGC_DS00882,BMG_DS001141,,UMLS ID:C0015957,,,,,fetishistic disorder,MONDO:0001504,,,fetishism,DOID:1235,, +BMGC_DS00883,BMG_DS001144,Breast Fibrocystic Disease,UMLS ID:C0016034,,,,,breast fibrocystic disease,MONDO:0005219,Fibrocystic Breast Disease,MeSH ID:D005348,breast fibrocystic disease,DOID:10354,, +BMGC_DS00884,BMG_DS001145,Fibrodysplasia Ossificans Progressiva,UMLS ID:C0016037,,,,,fibrodysplasia ossificans progressiva,MONDO:0007606,Myositis Ossificans,MeSH ID:D009221,fibrodysplasia ossificans progressiva,DOID:13374,,OMIM ID:135100 +BMGC_DS00885,BMG_DS001147,,UMLS ID:C0016045,,,,,fibroma,MONDO:0005167,,,,,, +BMGC_DS00886,BMG_DS001148,,UMLS ID:C0016048,,,,,fibromatosis,MONDO:0005031,,,,,, +BMGC_DS00887,BMG_DS001149,Fibromuscular Dysplasia,UMLS ID:C0016052,,,,,fibromuscular dysplasia,MONDO:0006761,Fibromuscular Dysplasia,MeSH ID:D005352,,,,OMIM ID:135580 +BMGC_DS00888,BMG_DS001150,Fibromyalgia,UMLS ID:C0016053,Fibromyalgia | Fibromyalgia (finding) | Fibromyalgia | Fibromyalgia (disorder) | Fibromyositis | Fibromyositis (disorder),SNOMEDCT ID:247365004 | SNOMEDCT ID:203082005 | SNOMEDCT ID:1304004 | SNOMEDCT ID:156727006 | SNOMEDCT ID:24693007 | SNOMEDCT ID:203138004,Chronic widespread pain,ICD11 ID:MG30.01,fibromyalgia,MONDO:0005546,Fibromyalgia,MeSH ID:D005356,fibromyalgia,DOID:631,ICD10 ID:M79.7,OMIM ID:MTHU038078 +BMGC_DS00889,BMG_DS001151,,UMLS ID:C0016057,,,,,fibrosarcoma,MONDO:0005164,,,fibrosarcoma,DOID:3355,, +BMGC_DS00890,BMG_DS001152,"Fibrous Dysplasia, Monostotic",UMLS ID:C0016064,,,,,monostotic fibrous dysplasia,MONDO:0019665,"Fibrous Dysplasia, Monostotic",MeSH ID:D005358,,,, +BMGC_DS00891,BMG_DS001153,,UMLS ID:C0016065,,,,,polyostotic fibrous dysplasia,MONDO:0008274,,,McCune Albright syndrome,DOID:1858,, +BMGC_DS00892,BMG_DS001154,Filariasis,UMLS ID:C0016085,Filariosis | Filariasis | Disease caused by Filarioidea (disorder) | Disease caused by Filarioidea | Filariasis | Filariosis | Filariasis (disorder),SNOMEDCT ID:105706003 | SNOMEDCT ID:50342004,,,filariasis,MONDO:0016075,Filariasis,MeSH ID:D005368,filariasis,DOID:1080,ICD10 ID:B74, +BMGC_DS00893,BMG_DS001156,,UMLS ID:C0016142,,,,,pyromania,MONDO:0001522,,,pyromania,DOID:12402,, +BMGC_DS00894,BMG_DS001157,Fish Diseases,UMLS ID:C0016154,,,,,fish disease,MONDO:0024934,Fish Diseases,MeSH ID:D005393,,,, +BMGC_DS00895,BMG_DS001158,Anal Fissure,UMLS ID:C0016167,,,,,,,Fissure in Ano,MeSH ID:D005401,,,, +BMGC_DS00896,BMG_DS001159,,UMLS ID:C0016202,,,,,flatfoot,MONDO:0005293,,,,,, +BMGC_DS00897,BMG_DS001160,Focal Dermal Hypoplasia,UMLS ID:C0016395,,,,,focal dermal hypoplasia,MONDO:0010592,Focal Dermal Hypoplasia,MeSH ID:D005489,focal dermal hypoplasia,DOID:2120,,OMIM ID:305600 +BMGC_DS00898,BMG_DS001162,"Epilepsy, Partial, Motor",UMLS ID:C0016399,,,,,partial motor epilepsy,MONDO:0006891,"Epilepsy, Partial, Motor",MeSH ID:D020938,partial motor epilepsy,DOID:3327,, +BMGC_DS00899,BMG_DS001163,Folic Acid Deficiency,UMLS ID:C0016412,,,,,,,Folic Acid Deficiency,MeSH ID:D005494,,,, +BMGC_DS00900,BMG_DS001165,Folliculitis,UMLS ID:C0016436,Folliculitis | Folliculitis (disorder) | Seborrhea capitis | (Folliculitis) or (seborrhoea capitis) | Seborrhoea capitis | (Folliculitis) or (seborrhea capitis) | Folliculitis | (Folliculitis) or (seborrhoea capitis) (disorder),SNOMEDCT ID:13600006 | SNOMEDCT ID:156411003 | SNOMEDCT ID:267863007 | SNOMEDCT ID:201177005,,,folliculitis,MONDO:0006552,Folliculitis,MeSH ID:D005499,folliculitis,DOID:4409,,OMIM ID:MTHU024866 +BMGC_DS00901,BMG_DS001166,Food Allergy,UMLS ID:C0016470,,,,,,,Food Hypersensitivity,MeSH ID:D005512,food allergy,DOID:3044,, +BMGC_DS00902,BMG_DS001167,Foot Dermatoses,UMLS ID:C0016509,,,,,,,Foot Dermatoses,MeSH ID:D005533,,,, +BMGC_DS00903,BMG_DS001168,Foot Diseases,UMLS ID:C0016510,,,,,obsolete foot disorder,MONDO:0044989,Foot Diseases,MeSH ID:D005534,,,, +BMGC_DS00904,BMG_DS001171,"Foramen Ovale, Patent",UMLS ID:C0016522,,,,,patent foramen ovale,MONDO:0020439,"Foramen Ovale, Patent",MeSH ID:D054092,patent foramen ovale,DOID:13620,, +BMGC_DS00905,BMG_DS001173,Influenza in Birds,UMLS ID:C0016627,,,,,avian influenza,MONDO:0018695,Influenza in Birds,MeSH ID:D005585,avian influenza,DOID:4492,, +BMGC_DS00906,BMG_DS001175,Fox Fordyce disease,UMLS ID:C0016632,Fox Fordyce disease | Fox Fordyce disease (disorder) | Fox-Fordyce disease | Apocrine miliaria | Fox Fordyce disease | Apocrine miliaria (disorder),SNOMEDCT ID:254682006 | SNOMEDCT ID:65038009,,,Fox-Fordyce disease,MONDO:0006553,,,Fox-Fordyce disease,DOID:1381,, +BMGC_DS00907,BMG_DS001176,Fragile X Syndrome,UMLS ID:C0016667,,,,,fragile X syndrome,MONDO:0010383,Fragile X Syndrome,MeSH ID:D005600,fragile X syndrome,DOID:14261,,OMIM ID:300624 +BMGC_DS00908,BMG_DS001178,Freemartinism,UMLS ID:C0016697,,,,,freemartinism,MONDO:0006762,Freemartinism,MeSH ID:D005611,freemartinism,DOID:4671,, +BMGC_DS00909,BMG_DS001179,Friedreich Ataxia,UMLS ID:C0016719,,,,,Friedreich ataxia,MONDO:0100339,Friedreich Ataxia,MeSH ID:D005621,Friedreich ataxia,DOID:12705,, +BMGC_DS00910,BMG_DS001180,Froehlich's Syndrome,UMLS ID:C0016724,,,,,Froelich syndrome,MONDO:0003962,Hypothalamic Diseases,MeSH ID:D007027,Froelich syndrome,DOID:6676,, +BMGC_DS00911,BMG_DS001181,Frontal Sinusitis,UMLS ID:C0016735,,,,,frontal sinusitis,MONDO:0001121,Frontal Sinusitis,MeSH ID:D015522,frontal sinusitis,DOID:10791,, +BMGC_DS00912,BMG_DS001182,,UMLS ID:C0016751,,,,,hereditary fructose intolerance,MONDO:0009249,,,hereditary fructose intolerance syndrome,DOID:9869,,OMIM ID:229600 +BMGC_DS00913,BMG_DS001184,"Fructose-1,6-Diphosphatase Deficiency",UMLS ID:C0016756,,,,,"fructose-1,6-bisphosphatase deficiency",MONDO:0009251,"Fructose-1,6-Diphosphatase Deficiency",MeSH ID:D015319,"fructose-1,6-bisphosphatase deficiency",DOID:5204,,OMIM ID:229700 +BMGC_DS00914,BMG_DS001185,Fuchs Endothelial Dystrophy,UMLS ID:C0016781,,,,,Fuchs' endothelial dystrophy,MONDO:0005321,Fuchs' Endothelial Dystrophy,MeSH ID:D005642,Fuchs' endothelial dystrophy,DOID:11555,, +BMGC_DS00915,BMG_DS001186,Fuchs' heterochromic cyclitis,UMLS ID:C0016782,Fuchs' heterochromic cyclitis | Fuchs' heterochromic uveitis | Fuchs' heterochromic iridocyclitis | Fuchs' heterochromic cyclitis (disorder) | Fuchs uveitis syndrome,SNOMEDCT ID:11226001,,,Fuchs heterochromic iridocyclitis,MONDO:0016989,,,Fuchs' heterochromic uveitis,DOID:9375,ICD10 ID:H20.81, +BMGC_DS00916,BMG_DS001187,Fucosidase Deficiency Disease,UMLS ID:C0016788,,,,,fucosidosis,MONDO:0009254,Fucosidosis,MeSH ID:D005645,fucosidosis,DOID:14500,,OMIM ID:230000 +BMGC_DS00917,BMG_DS001188,Functional disorder of intestine,UMLS ID:C0016807,Functional disorder of intestine | Functional disorder of intestine (disorder),SNOMEDCT ID:81120009,,,,,,,bowel dysfunction,DOID:9779,, +BMGC_DS00918,BMG_DS001190,Furunculosis,UMLS ID:C0016867,Furunculosis | Furunculosis (morphologic abnormality),SNOMEDCT ID:112650006,,,furunculosis,MONDO:0025419,Furunculosis,MeSH ID:D005667,,,,OMIM ID:MTHU076074 +BMGC_DS00919,BMG_DS001191,,UMLS ID:C0016873,,,,,"teeth, fused",MONDO:0010103,,,,,,OMIM ID:273000 +BMGC_DS00920,BMG_DS001193,Galactosemias,UMLS ID:C0016952,,,,,galactosemia,MONDO:0018116,Galactosemias,MeSH ID:D005693,galactosemia,DOID:9870,, +BMGC_DS00921,BMG_DS001194,Gall Bladder Diseases,UMLS ID:C0016977,,,,,gallbladder disorder,MONDO:0005281,Gallbladder Diseases,MeSH ID:D005705,gallbladder disease,DOID:0060262,, +BMGC_DS00922,BMG_DS001195,,UMLS ID:C0016978,,,,,gallbladder neoplasm,MONDO:0021253,,,gallbladder cancer,DOID:3121,, +BMGC_DS00923,BMG_DS001197,Gangliosidoses,UMLS ID:C0017083,,,,,gangliosidosis,MONDO:0017719,Gangliosidoses,MeSH ID:D005733,gangliosidosis,DOID:2368,, +BMGC_DS00924,BMG_DS001198,Gangrene,UMLS ID:C0017086,Gangrene | Gangrene (morphologic abnormality) | Gangrenous | Gangrenous disorder (disorder) | Gangrenous disorder | Gangrene | Gangrene | Gangrene (disorder),SNOMEDCT ID:36024000 | SNOMEDCT ID:372070002 | SNOMEDCT ID:263765007,,,,,Gangrene,MeSH ID:D005734,,,,OMIM ID:MTHU037861 +BMGC_DS00925,BMG_DS001199,Gardner Syndrome,UMLS ID:C0017097,,,,,Gardner syndrome,MONDO:0019336,Gardner Syndrome,MeSH ID:D005736,,,, +BMGC_DS00926,BMG_DS001201,Gastric Varix,UMLS ID:C0017145,,,,,,,Esophageal and Gastric Varices,MeSH ID:D004932,,,, +BMGC_DS00927,BMG_DS001202,,UMLS ID:C0017150,,,,,gastrin-producing neuroendocrine tumor,MONDO:0003523,,,gastrinoma,DOID:5577,, +BMGC_DS00928,BMG_DS001203,Gastritis,UMLS ID:C0017152,Gastritis | Gastritis and duodenitis | Gastritis &/or duodenitis | Gastritis &/or duodenitis (disorder) | Gastritis | Gastritis (disorder) | Gastritis | Gastric catarrh | Gastritis (disorder) | Gastritis &/or duodenitis | Gastritis | Gastritis and duodenitis | Gastritis &/or duodenitis (disorder),SNOMEDCT ID:266503008 | SNOMEDCT ID:235653009 | SNOMEDCT ID:4556007 | SNOMEDCT ID:155711008,,,gastritis,MONDO:0004966,Gastritis,MeSH ID:D005756,gastritis,DOID:4029,,OMIM ID:MTHU062400 +BMGC_DS00929,BMG_DS001204,"Gastritis, Atrophic",UMLS ID:C0017154,,,,,chronic atrophic gastritis,MONDO:0006665,"Gastritis, Atrophic",MeSH ID:D005757,atrophic gastritis,DOID:8929,, +BMGC_DS00930,BMG_DS001205,"Gastritis, Hypertrophic",UMLS ID:C0017155,,,,,gastric mucosal hypertrophy,MONDO:0007652,"Gastritis, Hypertrophic",MeSH ID:D005758,gastric mucosal hypertrophy,DOID:8757,,OMIM ID:137280 +BMGC_DS00931,BMG_DS001206,Gastroenteritis,UMLS ID:C0017160,"Gastroenteritis | Gastroenteropathy | GE - Gastroenteritis | Inflammation of stomach and intestine | Inflammation of stomach and intestine (disorder) | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) | Enterocolitis | Other non-infective inflammatory gastroenteritis and colitis | Gastroenteritis | (Gastroenteriti) or (enterocolitis) or (other non-infective inflammatory gastroenteritis and colitis) (disorder) | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) | Diarrhea&vomiting, infection | Diarrhea+vomiting,infection | Diarrhoea+vomiting,infection | Diarrhoea&vomiting, infection | Vomiting - viral | Gastroenteritis | Gastroenteritis - viral + NOS | Gastric 'flu | Gastric flu | Viral vomiting | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhea infection]) or (gastric flu) | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) (disorder) | Diarrhea&vomiting, infection | Diarrhea+vomiting,infection | Diarrhoea+vomiting,infection | Diarrhoea&vomiting, infection | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) | Gastroenteritis | Gastroenteritis - viral + NOS | Gastric 'flu | Vomiting - viral | Gastric flu | Viral vomiting | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhea infection]) or (gastric flu) | (Gastroenteritis (& [viral NOS])) or (vomiting: [viral] or [& diarrhoea infection]) or (gastric flu) (disorder)",SNOMEDCT ID:25374005 | SNOMEDCT ID:197010007 | SNOMEDCT ID:266179001 | SNOMEDCT ID:154278002,,,gastroenteritis,MONDO:0002269,Gastroenteritis,MeSH ID:D005759,gastroenteritis,DOID:2326,,OMIM ID:MTHU035020 +BMGC_DS00932,BMG_DS001207,"Gastroenteritis, Transmissible, of Swine",UMLS ID:C0017162,,,,,"gastroenteritis, transmissible, of swine",MONDO:0025420,"Gastroenteritis, Transmissible, of Swine",MeSH ID:D005761,,,, +BMGC_DS00933,BMG_DS001208,Gastroesophageal reflux disease,UMLS ID:C0017168,Gastroesophageal reflux disease | Gastresophageal reflux disease | Gastroesophageal reflux disease (disorder) | Gastroesophageal reflux disease | Gastro-esophageal reflux | GORD - Gastro-esophageal reflux disease | Gastro-esophageal reflux disease | GOR - Gastro-esophageal reflux | Gastro-oesophageal reflux disease | Gastro-oesophageal reflux | GORD - Gastro-oesophageal reflux disease | GOR - Gastro-oesophageal reflux | Gastroesophageal reflux disease (disorder) | GERD - Gastro-esophageal reflux disease | Gastrooesophageal reflux disease,SNOMEDCT ID:54856001 | SNOMEDCT ID:235595009,,,gastroesophageal reflux disease,MONDO:0007186,,,gastroesophageal reflux disease,DOID:8534,,OMIM ID:109350 | OMIM ID:MTHU001906 +BMGC_DS00934,BMG_DS001209,Gastrointestinal Diseases,UMLS ID:C0017178,,,,,,,Gastrointestinal Diseases,MeSH ID:D005767,,,, +BMGC_DS00935,BMG_DS001210,,UMLS ID:C0017185,,,,,,,,,gastrointestinal system cancer,DOID:3119,, +BMGC_DS00936,BMG_DS001211,Gaucher Disease,UMLS ID:C0017205,,,,,Gaucher disease,MONDO:0018150,Gaucher Disease,MeSH ID:D005776,Gaucher's disease,DOID:1926,, +BMGC_DS00937,BMG_DS001212,Generalized atherosclerosis,UMLS ID:C0017327,Generalised atherosclerosis | Generalized atherosclerosis | Generalised atherosclerosis (disorder) | Generalized atherosclerosis | Generalised atherosclerosis | Arteriopathy | Arteriopath | Generalized atherosclerosis (disorder),SNOMEDCT ID:367108003 | SNOMEDCT ID:39823006,,,generalized atherosclerosis,MONDO:0002275,,,generalized atherosclerosis,DOID:2347,ICD10 ID:I70.91, +BMGC_DS00938,BMG_DS001213,Generalized Nonconvulsive Seizure Disorder,UMLS ID:C0017332,,,,,,,"Epilepsy, Generalized",MeSH ID:D004829,,,, +BMGC_DS00939,BMG_DS001215,Geniculate Ganglionitis,UMLS ID:C0017407,,,,,geniculate ganglionitis,MONDO:0001873,Facial Nerve Diseases,MeSH ID:D005155,geniculate ganglionitis,DOID:14075,, +BMGC_DS00940,BMG_DS001216,Herpes Zoster Oticus,UMLS ID:C0017409,,,,,geniculate herpes zoster,MONDO:0005769,Herpes Zoster Oticus,MeSH ID:D016697,herpes zoster oticus,DOID:9210,, +BMGC_DS00941,BMG_DS001217,Female Genital Diseases,UMLS ID:C0017411,,,,,,,"Genital Diseases, Female",MeSH ID:D005831,female reproductive system disease,DOID:229,, +BMGC_DS00942,BMG_DS001218,"Genital Diseases, Male",UMLS ID:C0017412,,,,,,,"Genital Diseases, Male",MeSH ID:D005832,male reproductive system disease,DOID:48,, +BMGC_DS00943,BMG_DS001219,,UMLS ID:C0017416,,,,,female reproductive system neoplasm,MONDO:0021148,,,female reproductive organ cancer,DOID:120,, +BMGC_DS00944,BMG_DS001220,,UMLS ID:C0017417,,,,,male reproductive system neoplasm,MONDO:0024582,,,male reproductive organ cancer,DOID:3856,, +BMGC_DS00945,BMG_DS001221,Primary genital syphilis,UMLS ID:C0017418,Primary genital syphilis | Primary genital syphilis (disorder) | Primary genital syphilis | Genital chancre | Primary genital syphilis (disorder),SNOMEDCT ID:58433006 | SNOMEDCT ID:186847001,Primary genital syphilis,ICD11 ID:1A61.0,,,,,,,ICD10 ID:A51.0, +BMGC_DS00946,BMG_DS001222,Geotrichosis,UMLS ID:C0017455,Geotrichosis | Infection by Geotrichum | Geotrichosis (disorder) | Geotrichosis | Geotrichosis (disorder),SNOMEDCT ID:13969006 | SNOMEDCT ID:187105008,Other specified mycoses,ICD11 ID:1F2Y,geotrichosis,MONDO:0005772,Geotrichosis,MeSH ID:D005847,geotrichosis,DOID:2832,ICD10 ID:B48.3, +BMGC_DS00947,BMG_DS001223,,UMLS ID:C0017494,,,,,Gerstmann syndrome,MONDO:0005773,,,Gerstmann syndrome,DOID:4969,, +BMGC_DS00948,BMG_DS001224,Gerstmann-Straussler-Scheinker Disease,UMLS ID:C0017495,,,,,Gerstmann-Straussler-Scheinker syndrome,MONDO:0007656,Gerstmann-Straussler-Scheinker Disease,MeSH ID:D016098,Gerstmann-Straussler-Scheinker syndrome,DOID:4249,,OMIM ID:137440 +BMGC_DS00949,BMG_DS001225,,UMLS ID:C0017525,,,,,giant cell tumor,MONDO:0002171,,,benign giant cell tumor,DOID:200,, +BMGC_DS00950,BMG_DS001226,Angiolymphoid hyperplasia,UMLS ID:C0017531,Angiofollicular lymph node hyperplasia | Benign angiofollicular hyperplasia | Castleman's disease | Angiolymphoid hyperplasia | Castleman's disease (disorder) | Angiomatous lymphoid hamartoma | Castleman disease | Giant lymph node hyperplasia | Angiofollicular lymph node hyperplasia | Angiofollicular lymph node hyperplasia (disorder),SNOMEDCT ID:207036003 | SNOMEDCT ID:69484003,,,Castleman disease,MONDO:0015564,,,Castleman disease,DOID:0111157,, +BMGC_DS00951,BMG_DS001227,Giardiasis,UMLS ID:C0017536,Giardiasis | Giardiasis (disorder) | Giardial colitis | Colitis - giardial | Lambliasis | Giardiasis | Giardiasis (& [colitis]) | Giardiasis (& [colitis]) (disorder) | Giardiasis | Giardiosis | Giardiasis (disorder),SNOMEDCT ID:266075009 | SNOMEDCT ID:266176008 | SNOMEDCT ID:58265007,,,giardiasis,MONDO:0001103,Giardiasis,MeSH ID:D005873,giardiasis,DOID:10718,, +BMGC_DS00952,BMG_DS001228,Gigantism,UMLS ID:C0017547,"(Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) | Gigantism and acromegaly | Anterior pituitary hyperfunction | Acromegaly and gigantism | Acromegaly | Gigantism | Pituitary hyperfunction (ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | Gigantism and acromegaly | Acromegaly and gigantism | Acromegaly | Gigantism | Pituitary hyperfunction (ant.) | Anterior pituitary hyperfunction | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) | (Acromegaly &/or gigantism) or (pituitary hyperfunction, ant.) (disorder) | Gigantism | Normal giant | Genetic giant | Primordial giant | Giant | Giantism | Gigantism (disorder)",SNOMEDCT ID:267480001 | SNOMEDCT ID:154698000 | SNOMEDCT ID:80849007,,,pituitary gigantism,MONDO:0020479,Gigantism,MeSH ID:D005877,,,, +BMGC_DS00953,BMG_DS001229,Gilbert Disease,UMLS ID:C0017551,,,,,Gilbert syndrome,MONDO:0007745,Gilbert Disease,MeSH ID:D005878,Gilbert syndrome,DOID:2739,,OMIM ID:143500 +BMGC_DS00954,BMG_DS001230,Gingival Diseases,UMLS ID:C0017563,,,,,gingival disorder,MONDO:0002021,Gingival Diseases,MeSH ID:D005882,gingival disease,DOID:1483,, +BMGC_DS00955,BMG_DS001231,Gingival Hypertrophy,UMLS ID:C0017567,,,,,gingival hypertrophy,MONDO:0003397,Gingival Hypertrophy,MeSH ID:D005886,gingival hypertrophy,DOID:5338,, +BMGC_DS00956,BMG_DS001233,,UMLS ID:C0017572,,,,,gingival recession,MONDO:0001268,,,gingival recession,DOID:1134,, +BMGC_DS00957,BMG_DS001234,Gingivitis,UMLS ID:C0017574,Gingivitis | Chronic gingivitis | Gingivitis (& [chronic]) | Gingivitis (& [chronic]) (disorder) | Gingivitis | Gingivitis (disorder),SNOMEDCT ID:196355002 | SNOMEDCT ID:66383009,,,gingivitis,MONDO:0002508,Gingivitis,MeSH ID:D005891,gingivitis,DOID:3087,,OMIM ID:MTHU007445 +BMGC_DS00958,BMG_DS001235,,UMLS ID:C0017575,,,,,necrotizing ulcerative gingivitis,MONDO:0006865,,,necrotizing ulcerative gingivitis,DOID:13924,, +BMGC_DS00959,BMG_DS001238,Glaucoma,UMLS ID:C0017601,Glaucoma | Glaucoma (disorder),SNOMEDCT ID:23986001 | SNOMEDCT ID:155120009 | SNOMEDCT ID:194631001,,,glaucoma,MONDO:0005041,Glaucoma,MeSH ID:D005901,glaucoma,DOID:1686,ICD10 ID:H40,OMIM ID:MTHU004639 +BMGC_DS00960,BMG_DS001239,Angle Closure Glaucoma,UMLS ID:C0017605,,,,,angle-closure glaucoma,MONDO:0001744,"Glaucoma, Angle-Closure",MeSH ID:D015812,angle-closure glaucoma,DOID:13550,, +BMGC_DS00961,BMG_DS001240,Primary angle-closure glaucoma,UMLS ID:C0017606,Primary angle-closure glaucoma | Primary angle-closure glaucoma (disorder) | Primary angle-closure glaucoma (disorder) | Primary angle-closure glaucoma | Primary angle-closure glaucoma | ACG - Angle-closure glaucoma | Angle-closure glaucoma | Primary angle-closure glaucoma (disorder) | Glaucoma: [primary angle-closure] or [closed angle] | Primary angle-closure glaucoma | Closed angle glaucoma | Closed-angle glaucoma | Glaucoma: [primary angle-closure] or [closed angle] (disorder),SNOMEDCT ID:42456004 | SNOMEDCT ID:392288006 | SNOMEDCT ID:270882001 | SNOMEDCT ID:155123006 | SNOMEDCT ID:193544008,"Primary angle closure and angle closure glaucoma, unspecified",ICD11 ID:9C61.1Z,primary angle-closure glaucoma,MONDO:0001868,,,primary angle-closure glaucoma,DOID:1405,ICD10 ID:H40.2, +BMGC_DS00962,BMG_DS001241,"Glaucoma, Neovascular",UMLS ID:C0017609,,,,,neovascular glaucoma,MONDO:0019783,"Glaucoma, Neovascular",MeSH ID:D015355,neovascular glaucoma,DOID:1687,, +BMGC_DS00963,BMG_DS001242,"Glaucoma, Open-Angle",UMLS ID:C0017612,,,,,open-angle glaucoma,MONDO:0005338,"Glaucoma, Open-Angle",MeSH ID:D005902,open-angle glaucoma,DOID:1067,, +BMGC_DS00964,BMG_DS001243,"Glaucoma, Suspect",UMLS ID:C0017614,,,,,,,Ocular Hypertension,MeSH ID:D009798,,,, +BMGC_DS00965,BMG_DS001244,,UMLS ID:C0017636,,,,,glioblastoma,MONDO:0018177,,,glioblastoma,DOID:3068,, +BMGC_DS00966,BMG_DS001245,,UMLS ID:C0017638,,,,,glioma,MONDO:0021042,,,high grade glioma,DOID:3070,, +BMGC_DS00967,BMG_DS001246,,UMLS ID:C0017653,,,,,glomus tumor,MONDO:0018327,,,glomus tumor,DOID:2431,, +BMGC_DS00968,BMG_DS001248,Glomerulonephritis,UMLS ID:C0017658,Glomerulonephritis | Glomerulonephritis (disorder) | GN - Glomerulonephritis,SNOMEDCT ID:36171008,,,glomerulonephritis,MONDO:0002462,Glomerulonephritis,MeSH ID:D005921,glomerulonephritis,DOID:2921,ICD10 ID:N08,OMIM ID:MTHU036986 +BMGC_DS00969,BMG_DS001249,IGA Glomerulonephritis,UMLS ID:C0017661,,,,,IgA glomerulonephritis,MONDO:0005342,"Glomerulonephritis, IGA",MeSH ID:D005922,IgA glomerulonephritis,DOID:2986,, +BMGC_DS00970,BMG_DS001250,"Glomerulonephritis, Membranoproliferative",UMLS ID:C0017662,,,,,membranoproliferative glomerulonephritis,MONDO:0002461,"Glomerulonephritis, Membranoproliferative",MeSH ID:D015432,membranoproliferative glomerulonephritis,DOID:2920,, +BMGC_DS00971,BMG_DS001251,Membranous glomerulonephritis,UMLS ID:C0017665,"Membranous glomerulonephritis | Membranous glomerulonephritis (disorder) | MGN - Membranous glomerulonephritis | Chronic nephritic syndrome, diffuse membranous glomerulonephritis | Membranous glomerulonephritis | Membranous glomerulonephritis (disorder)",SNOMEDCT ID:77182004 | SNOMEDCT ID:197710000,,,membranous glomerulonephritis,MONDO:0005376,,,membranous glomerulonephritis,DOID:10976,,OMIM ID:MTHU069736 +BMGC_DS00972,BMG_DS001252,Focal glomerulosclerosis,UMLS ID:C0017668,Focal glomerular sclerosis | Focal glomerulosclerosis | Focal glomerular sclerosis (disorder) | FGS - Focal glomerulosclerosis,SNOMEDCT ID:25821008,,,focal segmental glomerulosclerosis,MONDO:0100313,,,focal segmental glomerulosclerosis,DOID:1312,,OMIM ID:MTHU023216 +BMGC_DS00973,BMG_DS001255,Glossitis,UMLS ID:C0017675,Glossitis | Inflammation of tongue | Glossitis (disorder) | Glossitis | Glossitis (disorder),SNOMEDCT ID:45534005 | SNOMEDCT ID:155666003,Glossitis,ICD11 ID:DA03.0,glossitis,MONDO:0006771,Glossitis,MeSH ID:D005928,glossitis,DOID:1456,ICD10 ID:K14.0,OMIM ID:MTHU037108 +BMGC_DS00974,BMG_DS001256,"Glossitis, Benign Migratory",UMLS ID:C0017677,,,,,geographic tongue,MONDO:0005771,"Glossitis, Benign Migratory",MeSH ID:D005929,geographic tongue,DOID:1455,, +BMGC_DS00975,BMG_DS001257,,UMLS ID:C0017689,,,,,glucagonoma,MONDO:0019959,,,,,, +BMGC_DS00976,BMG_DS001258,Glycogen Storage Disease,UMLS ID:C0017919,,,,,disorder of glycogen metabolism,MONDO:0002412,Glycogen Storage Disease,MeSH ID:D006008,glycogen storage disease,DOID:2747,, +BMGC_DS00977,BMG_DS001259,Glycogen Storage Disease Type I,UMLS ID:C0017920,,,,,glycogen storage disease I,MONDO:0002413,Glycogen Storage Disease Type I,MeSH ID:D005953,glycogen storage disease I,DOID:0081329,, +BMGC_DS00978,BMG_DS001260,Glycogen storage disease type II,UMLS ID:C0017921,"AMD - Acid maltase deficiency | alpha-Glucosidase deficiency | Glycogen storage disease type II | alpha-1,4-Glucosidase deficiency | Lysosomal alpha-1,4-glucosidase deficiency | Acid maltase deficiency | Lysosomal alpha-1,4-glucosidase deficiency (disorder)",SNOMEDCT ID:237967002,,,glycogen storage disease II,MONDO:0009290,,,glycogen storage disease II,DOID:2752,,OMIM ID:232300 +BMGC_DS00979,BMG_DS001261,Glycogen Storage Disease Type III,UMLS ID:C0017922,,,,,glycogen storage disease III,MONDO:0009291,Glycogen Storage Disease Type III,MeSH ID:D006010,glycogen storage disease III,DOID:2748,,OMIM ID:232400 +BMGC_DS00980,BMG_DS001262,Glycogen Storage Disease Type IV,UMLS ID:C0017923,,,,,glycogen storage disease due to glycogen branching enzyme deficiency,MONDO:0009292,Glycogen Storage Disease Type IV,MeSH ID:D006011,glycogen storage disease IV,DOID:2750,,OMIM ID:232500 +BMGC_DS00981,BMG_DS001263,Glycogen Storage Disease Type V,UMLS ID:C0017924,,,,,glycogen storage disease V,MONDO:0009293,Glycogen Storage Disease Type V,MeSH ID:D006012,glycogen storage disease V,DOID:2746,,OMIM ID:232600 +BMGC_DS00982,BMG_DS001264,Glycogen Storage Disease Type VI,UMLS ID:C0017925,,,,,glycogen storage disease VI,MONDO:0009294,Glycogen Storage Disease Type VI,MeSH ID:D006013,glycogen storage disease VI,DOID:2754,,OMIM ID:232700 +BMGC_DS00983,BMG_DS001265,Glycogen Storage Disease Type VII,UMLS ID:C0017926,,,,,glycogen storage disease VII,MONDO:0009295,Glycogen Storage Disease Type VII,MeSH ID:D006014,glycogen storage disease VII,DOID:11721,,OMIM ID:232800 +BMGC_DS00984,BMG_DS001266,Glycogen Storage Disease Type VIII,UMLS ID:C0017927,,,,,,,Glycogen Storage Disease Type VIII,MeSH ID:D006015,glycogen storage disease VIII,DOID:2751,, +BMGC_DS00985,BMG_DS001267,,UMLS ID:C0017980,,,,,,,,,renal glycosuria,DOID:9432,, +BMGC_DS00986,BMG_DS001268,Gnathostomiasis,UMLS ID:C0018013,Infection by Gnathostoma | Gnathostomiasis | Gnathomiasis | Gnathostomosis | Infection caused by Gnathostoma (disorder) | Infection caused by Gnathostoma,SNOMEDCT ID:44086001,Gnathostomiasis,ICD11 ID:1F67,gnathomiasis,MONDO:0005776,Gnathostomiasis,MeSH ID:D058429,gnathomiasis,DOID:11379,ICD10 ID:B83.1, +BMGC_DS00987,BMG_DS001270,Goiter,UMLS ID:C0018021,Goiter | Enlargement of thyroid | Struma of thyroid | Thyromegaly | Goitre | Swelling of thyroid gland | Thyroid enlargement | Struma - goitre | Struma - goiter | Goiter (disorder) | Thyroid goiter | Thyroid goitre | Goitre | Goiter | Goitre (disorder),SNOMEDCT ID:3716002 | SNOMEDCT ID:237568003,,,goiter,MONDO:0005397,Goiter,MeSH ID:D006042,goiter,DOID:12176,,OMIM ID:MTHU001215 +BMGC_DS00988,BMG_DS001271,Endemic goiter,UMLS ID:C0018022,Endemic goiter | Simple iodine deficiency goiter | Simple iodine deficiency goitre | Endemic goitre | Endemic goiter (disorder) | Iodine-deficiency-related diffuse (endemic) goitre | Iodine-deficiency-related endemic goitre | Iodine-deficiency-related diffuse (endemic) goiter | Iodine-deficiency-related endemic goiter | Iodine-deficiency-related endemic goiter (disorder),SNOMEDCT ID:56805008 | SNOMEDCT ID:271949009,,,endemic goiter,MONDO:0006742,,,endemic goiter,DOID:13198,, +BMGC_DS00989,BMG_DS001272,Nodular Goiter,UMLS ID:C0018023,,,,,nodular goiter,MONDO:0006869,"Goiter, Nodular",MeSH ID:D006044,nodular goiter,DOID:13197,, +BMGC_DS00990,BMG_DS001273,Substernal goiter,UMLS ID:C0018024,Substernal goiter | Intrathoracic goiter | Substernal goitre | Intrathoracic goitre | Substernal goiter (disorder) | Retrosternal goitre | Retrosternal goiter | Substernal thyroid goiter,SNOMEDCT ID:66392007,,,substernal goiter,MONDO:0006986,,,substernal goiter,DOID:13200,, +BMGC_DS00991,BMG_DS001274,"Hypertension, Goldblatt",UMLS ID:C0018036,,,,,,,"Hypertension, Renovascular",MeSH ID:D006978,,,, +BMGC_DS00992,BMG_DS001275,Gonadal Disorders,UMLS ID:C0018050,,,,,gonadal disorder,MONDO:0002259,Gonadal Disorders,MeSH ID:D006058,gonadal disease,DOID:2277,, +BMGC_DS00993,BMG_DS001276,,UMLS ID:C0018051,,,,,gonadal dysgenesis,MONDO:0001967,,,gonadal dysgenesis,DOID:14447,, +BMGC_DS00994,BMG_DS001277,"Gonadal Dysgenesis, 46,XY",UMLS ID:C0018054,,,,,,,"Gonadal Dysgenesis, 46,XY",MeSH ID:D006061,"46,XY sex reversal",DOID:14448,, +BMGC_DS00995,BMG_DS001278,"Gonadal Dysgenesis, Mixed",UMLS ID:C0018055,,,,,mixed gonadal dysgenesis,MONDO:0001969,"Gonadal Dysgenesis, Mixed",MeSH ID:D006060,mixed gonadal dysgenesis,DOID:14449,, +BMGC_DS00996,BMG_DS001283,Gonorrhea,UMLS ID:C0018081,Gonorrhea | Gonorrhoea | (Gonococcal infections NOS) or (gonorrhea) | (Gonococcal infections NOS) or (gonorrhoea) | Gonococcal infections NOS | (Gonococcal infections NOS) or (gonorrhoea) (disorder) | Gonorrhea | Gonococcal infection | Infection due to Neisseria gonorrhoeae | Gonorrhoea | Gonorrhea (disorder) | GC - Gonococcus infection | Clap | GCI - Gonococcal infection,SNOMEDCT ID:186943001 | SNOMEDCT ID:15628003,,,gonorrhea,MONDO:0004277,Gonorrhea,MeSH ID:D006069,gonorrhea,DOID:7551,, +BMGC_DS00997,BMG_DS001284,Gout,UMLS ID:C0018099,Gout | Gout (disorder),SNOMEDCT ID:90560007,,,gout,MONDO:0005393,Gout,MeSH ID:D006073,gout,DOID:13189,ICD10 ID:M10,OMIM ID:MTHU037100 +BMGC_DS00998,BMG_DS001286,Graft-vs-Host Disease,UMLS ID:C0018133,,,,,graft versus host disease,MONDO:0013730,Graft vs Host Disease,MeSH ID:D006086,graft-versus-host disease,DOID:0081267,, +BMGC_DS00999,BMG_DS001287,"Granular Dystrophy, Corneal",UMLS ID:C0018179,,,,,corneal granular dystrophy,MONDO:0001490,"Corneal Dystrophies, Hereditary",MeSH ID:D003317,granular corneal dystrophy,DOID:12318,, +BMGC_DS01000,BMG_DS001288,Granuloma Inguinale,UMLS ID:C0018190,,,,,granuloma inguinale,MONDO:0005777,Granuloma Inguinale,MeSH ID:D006100,granuloma inguinale,DOID:9113,, +BMGC_DS01001,BMG_DS001290,,UMLS ID:C0018197,,,,,nasal cavity and paranasal sinus lethal midline granuloma,MONDO:0006828,,,lethal midline granuloma,DOID:9072,, +BMGC_DS01002,BMG_DS001291,"Granuloma, Respiratory Tract",UMLS ID:C0018200,,,,,,,"Granuloma, Respiratory Tract",MeSH ID:D015769,,,, +BMGC_DS01003,BMG_DS001292,Granulomatous Angiitis,UMLS ID:C0018202,,,,,granulomatous angiitis,MONDO:0002341,"Vasculitis, Central Nervous System",MeSH ID:D020293,granulomatous angiitis,DOID:2555,, +BMGC_DS01004,BMG_DS001293,Chronic granulomatous disease,UMLS ID:C0018203,Chronic granulomatous disease | Chronic granulomatous disease (disorder) | Chronic granulomatous disease (disorder) | Chronic granulomatous disease | Congenital dysphagocytosis | CGD - Chronic granulomatous disease | Chronic granulomatous disease | Granulomatous disease | Congenital dysphagocytosis | CGD - Chronic granulomatous disease | Chronic granulomatous disease (disorder),SNOMEDCT ID:191354002 | SNOMEDCT ID:387759001 | SNOMEDCT ID:11210002,,,chronic granulomatous disease,MONDO:0018305,,,chronic granulomatous disease,DOID:3265,, +BMGC_DS01005,BMG_DS001295,,UMLS ID:C0018206,,,,,granulosa cell tumor,MONDO:0006036,,,granulosa cell tumor,DOID:2999,, +BMGC_DS01006,BMG_DS001296,Graves Disease,UMLS ID:C0018213,,,,,Graves disease,MONDO:0005364,Graves Disease,MeSH ID:D006111,Graves' disease,DOID:12361,, +BMGC_DS01007,BMG_DS001297,Groenouw's Dystrophies,UMLS ID:C0018245,,,,,,,"Corneal Dystrophies, Hereditary",MeSH ID:D003317,,,, +BMGC_DS01008,BMG_DS001298,Guillain-Barre Syndrome,UMLS ID:C0018378,,,,,Guillain-Barre syndrome,MONDO:0016218,Guillain-Barre Syndrome,MeSH ID:D020275,Guillain-Barre syndrome,DOID:12842,, +BMGC_DS01009,BMG_DS001299,Gynatresia,UMLS ID:C0018414,,,,,gynatresia,MONDO:0002946,Gynatresia,MeSH ID:D006175,gynatresia,DOID:429,, +BMGC_DS01010,BMG_DS001300,Gynecomastia,UMLS ID:C0018418,(Breasts enlarged) or (hypertrophy) or (gynecomastia) | Enlarged breasts | Hypertrophy - breast | Breast hypertrophy | Breasts enlarged | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) | Gynaecomastia | Gynecomastia | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) (disorder) | Gynecomastia | Hypertrophy of male breast | Gynaecomastia | Gynaecomazia | Gynecomazia | Gynecomastia (disorder) | (Breasts enlarged) or (hypertrophy) or (gynecomastia) | Breasts enlarged | Hypertrophy - breast | Enlarged breasts | Breast hypertrophy | Gynaecomastia | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) | Gynecomastia | (Breasts enlarged) or (hypertrophy) or (gynaecomastia) (finding) | Gynecomastia (& [bilateral] or [unilateral]) | Bilateral gynecomastia | Unilateral gynecomastia | Gynecomastia | Gynaecomastia (& [bilateral] or [unilateral]) | Gynaecomastia | Bilateral gynaecomastia | Unilateral gynaecomastia | Gynaecomastia (& [bilateral] or [unilateral]) (disorder),SNOMEDCT ID:155963008 | SNOMEDCT ID:4754008 | SNOMEDCT ID:266646002 | SNOMEDCT ID:198112004,,,gynecomastia disorder,MONDO:0001571,Gynecomastia,MeSH ID:D006177,gynecomastia,DOID:12698,ICD10 ID:N62,OMIM ID:MTHU006965 +BMGC_DS01011,BMG_DS001301,Gyrate Atrophy,UMLS ID:C0018425,,,,,ornithine aminotransferase deficiency,MONDO:0009796,Gyrate Atrophy,MeSH ID:D015799,gyrate atrophy,DOID:1415,,OMIM ID:258870 +BMGC_DS01012,BMG_DS001304,Haemonchiasis,UMLS ID:C0018477,,,,,haemonchiasis,MONDO:0005778,Haemonchiasis,MeSH ID:D006188,haemonchiasis,DOID:3332,, +BMGC_DS01013,BMG_DS001305,Haemophilus Infections,UMLS ID:C0018482,,,,,haemophilus infectious disease,MONDO:0006926,Haemophilus Infections,MeSH ID:D006192,,,, +BMGC_DS01014,BMG_DS001306,Hair Diseases,UMLS ID:C0018500,,,,,,,Hair Diseases,MeSH ID:D006201,hair disease,DOID:421,, +BMGC_DS01015,BMG_DS001308,Hallermann's Syndrome,UMLS ID:C0018522,,,,,Hallermann-Streiff syndrome,MONDO:0009318,Hallermann's Syndrome,MeSH ID:D006210,Hallermann-Streiff syndrome,DOID:4534,,OMIM ID:234100 +BMGC_DS01016,BMG_DS001309,Hallervorden-Spatz Syndrome,UMLS ID:C0018523,,,,,pantothenate kinase-associated neurodegeneration,MONDO:0009319,Pantothenate Kinase-Associated Neurodegeneration,MeSH ID:D006211,pantothenate kinase-associated neurodegeneration,DOID:3981,,OMIM ID:234200 +BMGC_DS01017,BMG_DS001310,,UMLS ID:C0018526,,,,,hallucinogen abuse,MONDO:0001585,,,hallucinogen abuse,DOID:12797,, +BMGC_DS01018,BMG_DS001311,,UMLS ID:C0018528,,,,,hallucinogen dependence,MONDO:0004939,,,hallucinogen dependence,DOID:9977,, +BMGC_DS01019,BMG_DS001313,,UMLS ID:C0018552,,,,,hamartoma,MONDO:0006499,,,,,, +BMGC_DS01020,BMG_DS001314,,UMLS ID:C0018553,,,,,Cowden disease,MONDO:0016063,,,Cowden syndrome,DOID:6457,, +BMGC_DS01021,BMG_DS001315,Hand Dermatoses,UMLS ID:C0018567,,,,,hand dermatosis,MONDO:0006556,Hand Dermatoses,MeSH ID:D006229,hand dermatosis,DOID:3158,, +BMGC_DS01022,BMG_DS001316,"Hand, Foot and Mouth Disease",UMLS ID:C0018572,,,,,"hand, foot and mouth disease",MONDO:0005779,"Hand, Foot and Mouth Disease",MeSH ID:D006232,"hand, foot and mouth disease",DOID:10881,, +BMGC_DS01023,BMG_DS001317,Hartnup Disease,UMLS ID:C0018609,,,,,Hartnup disease,MONDO:0009324,Hartnup Disease,MeSH ID:D006250,Hartnup disease,DOID:1060,,OMIM ID:234500 +BMGC_DS01024,BMG_DS001318,Hashish Abuse,UMLS ID:C0018614,,,,,,,Marijuana Abuse,MeSH ID:D002189,,,, +BMGC_DS01025,BMG_DS001319,Hay fever,UMLS ID:C0018621,Seasonal allergic rhinitis | Seasonal allergic rhinitis (disorder) | Pollinosis | Hay fever | Hayfever | Allergic rhinitis caused by pollens | Allergic rhinitis caused by pollen | Allergic rhinitis caused by pollen (disorder),SNOMEDCT ID:70369002 | SNOMEDCT ID:21719001,Allergic rhinitis due to pollen,ICD11 ID:CA08.00,seasonal allergic rhinitis,MONDO:0005324,,,,,ICD10 ID:J30.1,OMIM ID:MTHU037792 +BMGC_DS01026,BMG_DS001320,,UMLS ID:C0018671,,,,,head and neck neoplasm,MONDO:0005586,,,head and neck cancer,DOID:11934,, +BMGC_DS01027,BMG_DS001321,"Hearing Loss, Bilateral",UMLS ID:C0018775,,,,,,,"Hearing Loss, Bilateral",MeSH ID:D006312,,,, +BMGC_DS01028,BMG_DS001323,Conductive hearing loss,UMLS ID:C0018777,Conductive hearing loss | Conductive deafness | CHL - Conductive hearing loss | CD - Conductive deafness | Conductive hearing loss (disorder) | Conductive hearing loss | Conductive hearing loss (disorder),SNOMEDCT ID:44057004 | SNOMEDCT ID:155255001,,,conductive hearing loss disorder,MONDO:0020679,,,,,,OMIM ID:MTHU036345 +BMGC_DS01029,BMG_DS001324,"Hearing Loss, High-Frequency",UMLS ID:C0018780,,,,,,,"Hearing Loss, High-Frequency",MeSH ID:D006316,,,, +BMGC_DS01030,BMG_DS001325,,UMLS ID:C0018781,,,,,noise induced hearing loss,MONDO:0013098,,,,,, +BMGC_DS01031,BMG_DS001326,,UMLS ID:C0018784,,,,,sensorineural hearing loss disorder,MONDO:0020678,,,sensorineural hearing loss,DOID:10003,, +BMGC_DS01032,BMG_DS001327,Heart Aneurysm,UMLS ID:C0018789,,,,,heart aneurysm,MONDO:0006779,Heart Aneurysm,MeSH ID:D006322,heart aneurysm,DOID:9768,, +BMGC_DS01033,BMG_DS001328,Cardiac Arrest,UMLS ID:C0018790,,,,,cardiac arrest,MONDO:0000745,Heart Arrest,MeSH ID:D006323,cardiac arrest,DOID:0060319,, +BMGC_DS01034,BMG_DS001329,Heart Block,UMLS ID:C0018794,,,,,,,Heart Block,MeSH ID:D006327,,,, +BMGC_DS01035,BMG_DS001330,,UMLS ID:C0018798,,,,,,,,,congenital heart disease,DOID:1682,, +BMGC_DS01036,BMG_DS001331,Heart Diseases,UMLS ID:C0018799,,,,,heart disorder,MONDO:0005267,Heart Diseases,MeSH ID:D006331,heart disease,DOID:114,, +BMGC_DS01037,BMG_DS001332,Heart failure,UMLS ID:C0018801,Heart failure | Myocardial failure | Weak heart | Cardiac failure | Heart failure (disorder) | HF - Heart failure | Cardiac insufficiency | Heart failure | Heart failure (disorder),SNOMEDCT ID:84114007 | SNOMEDCT ID:155374007,,,heart failure,MONDO:0005252,,,congestive heart failure,DOID:6000,ICD10 ID:I50,OMIM ID:MTHU009472 +BMGC_DS01038,BMG_DS001333,Congestive heart failure,UMLS ID:C0018802,Heart failure: [right] or [congestive] | Biventricular failure | Right heart failure | Right ventricular failure | Congestive cardiac failure | Congestive heart failure | Heart failure: [right] or [congestive] (disorder) | Congestive heart failure | Congestive heart disease | Congestive cardiac failure | CCF - Congestive cardiac failure | CHF - Congestive heart failure | Congestive heart failure (disorder),SNOMEDCT ID:195108009 | SNOMEDCT ID:42343007,,,congestive heart failure,MONDO:0005009,,,congestive heart failure,DOID:6000,,OMIM ID:MTHU005753 +BMGC_DS01039,BMG_DS001334,,UMLS ID:C0018809,,,,,heart neoplasm,MONDO:0021209,,,heart cancer,DOID:117,, +BMGC_DS01040,BMG_DS001336,"Heart Rupture, Post-Infarction",UMLS ID:C0018814,,,,,,,"Heart Rupture, Post-Infarction",MeSH ID:D006342,,,, +BMGC_DS01041,BMG_DS001337,,UMLS ID:C0018816,,,,,heart septal defect,MONDO:0002078,,,heart septal defect,DOID:1681,, +BMGC_DS01042,BMG_DS001338,,UMLS ID:C0018817,,,,,atrial septal defect,MONDO:0006664,,,atrial heart septal defect,DOID:1882,, +BMGC_DS01043,BMG_DS001339,,UMLS ID:C0018818,,,,,ventricular septal defect,MONDO:0002070,,,ventricular septal defect,DOID:1657,, +BMGC_DS01044,BMG_DS001340,Heart valve disease,UMLS ID:C0018824,Heart valve disorder | Valvular heart disease | Heart valve disease | Disorder of heart valve | Heart valve disorder (disorder),SNOMEDCT ID:368009,,,heart valve disorder,MONDO:0002869,,,heart valve disease,DOID:4079,, +BMGC_DS01045,BMG_DS001342,,UMLS ID:C0018852,,,,,heavy chain disease,MONDO:0019464,,,heavy chain disease,DOID:0060125,, +BMGC_DS01046,BMG_DS001343,,UMLS ID:C0018854,,,,,gamma-heavy chain disease,MONDO:0015046,,,heavy chain disease,DOID:0060125,, +BMGC_DS01047,BMG_DS001345,Helminthiasis,UMLS ID:C0018889,Helminthiasis | Helminthiasis (disorder) | Helminth infection | Helminthiasis | Helminthosis | Worms | Worm infestation | Worm infection | Infection caused by Cestoda and/or Trematoda and/or Phylum Nemata | Infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda (disorder) | Infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda,SNOMEDCT ID:187518006 | SNOMEDCT ID:27601005,,,helminthiasis,MONDO:0004664,Helminthiasis,MeSH ID:D006373,parasitic helminthiasis infectious disease,DOID:883,, +BMGC_DS01048,BMG_DS001346,"Helminthiasis, Animal",UMLS ID:C0018891,,,,,"helminthiasis, animal",MONDO:0025082,"Helminthiasis, Animal",MeSH ID:D006374,,,, +BMGC_DS01049,BMG_DS001348,,UMLS ID:C0018916,,,,,hemangioma,MONDO:0006500,,,hemangioma,DOID:255,, +BMGC_DS01050,BMG_DS001349,,UMLS ID:C0018920,,,,,cavernous hemangioma,MONDO:0003155,,,cavernous hemangioma,DOID:483,, +BMGC_DS01051,BMG_DS001350,,UMLS ID:C0018922,,,,,hemangiopericytoma,MONDO:0005094,,,hemangiopericytoma,DOID:264,, +BMGC_DS01052,BMG_DS001351,,UMLS ID:C0018923,,,,,angiosarcoma,MONDO:0016982,,,angiosarcoma,DOID:0001816,, +BMGC_DS01053,BMG_DS001352,,UMLS ID:C0018924,,,,,hemarthrosis,MONDO:0004431,,,hemarthrosis,DOID:801,, +BMGC_DS01054,BMG_DS001354,Hematocele of tunica vaginalis testis,UMLS ID:C0018931,Male hematocele | Hematocele of tunica vaginalis testis | Hematocele | Haematocoele of tunica vaginalis testis | Haematocoele | Male haematocele | Male hematocele (disorder),SNOMEDCT ID:66259004,,,hematocele of tunica vaginalis testis,MONDO:0001495,,,hematocele of tunica vaginalis testis,DOID:12332,, +BMGC_DS01055,BMG_DS001355,Hematochezia,UMLS ID:C0018932,Hematochezia (finding) | Haematochezia | Hematochezia | Bloody stool | Bright red blood in stool | Bright red blood per rectum | Passage of bloody stools | BRBPR - Bright red blood per rectum | Feces: blood | Blood in feces | Faeces: blood | Blood in faeces | Blood in stool | Fresh blood passed per rectum | Passage of bloody stools | Blood in stool | Blood in faeces | Faeces: blood | Blood in feces | Feces: blood | Blood in stool (disorder),SNOMEDCT ID:405729008 | SNOMEDCT ID:72256005,,,,,Gastrointestinal Hemorrhage,MeSH ID:D006471,,,,OMIM ID:MTHU006474 +BMGC_DS01056,BMG_DS001357,Hematological Disease,UMLS ID:C0018939,,,,,hematologic disorder,MONDO:0005570,Hematologic Diseases,MeSH ID:D006402,hematopoietic system disease,DOID:74,, +BMGC_DS01057,BMG_DS001358,,UMLS ID:C0018948,,,,,hemometra,MONDO:0006782,,,hemometra,DOID:9958,, +BMGC_DS01058,BMG_DS001359,Hematomyelia,UMLS ID:C0018949,Hematomyelia | Haematomyelia | Hematomyelia (disorder) | Intramedullary haemorrhage | Intramedullary hemorrhage,SNOMEDCT ID:39134007,,,,,Spinal Cord Vascular Diseases,MeSH ID:D020758,,,ICD10 ID:G95.19, +BMGC_DS01059,BMG_DS001361,Hematuria,UMLS ID:C0018965,Hematuria (& [traumatic] or [essential]) | Essential hematuria | Hematuria | Traumatic hematuria | Traumatic haematuria | Haematuria | Essential haematuria | Haematuria (& [traumatic] or [essential]) | Haematuria (& [traumatic] or [essential]) (disorder) | Haematuria | Hematuria | Haematuria (disorder) | Hematuria | Haematuria | Blood in urine | Blood in urine (finding),SNOMEDCT ID:197937006 | SNOMEDCT ID:266568001 | SNOMEDCT ID:34436003,,,,,Hematuria,MeSH ID:D006417,,,ICD10 ID:R31,OMIM ID:MTHU036916 +BMGC_DS01060,BMG_DS001362,Hemeralopia,UMLS ID:C0018975,Day blindness | Hemeralopia | Difficulty seeing at night | Night blindness | Nyctalopia | Day blindness (disorder) | Day blindness (disorder) | Day blindness | Hemeralopia | Night blindness | Nyctalopia | Night blindness (disorder) | Difficulty seeing at night,SNOMEDCT ID:75390007 | SNOMEDCT ID:399323001 | SNOMEDCT ID:65194006,,,,,Vision Disorders,MeSH ID:D014786,,,ICD10 ID:H53.11,OMIM ID:MTHU038321 +BMGC_DS01061,BMG_DS001365,,UMLS ID:C0018991,,,,,hemiplegia,MONDO:0001170,,,,,, +BMGC_DS01062,BMG_DS001366,Biliary Tract Hemorrhage,UMLS ID:C0018994,,,,,,,Hemobilia,MeSH ID:D006431,,,, +BMGC_DS01063,BMG_DS001367,Hemochromatosis,UMLS ID:C0018995,"Hemochromatosis | Bronzed cirrhosis | Pigmentary cirrhosis of liver | von Recklinghausen-Appelbaum disease | Iron storage disease | Familial hemochromatosis | Hereditary hemochromatosis | Primary hemochromatosis | Idiopathic hemochromatosis | Familial haemochromatosis | Hereditary haemochromatosis | Idiopathic haemochromatosis | Primary haemochromatosis | Bronzed diabetes | von Recklinghausen-Applebaum disease | Haemochromatosis | Hemochromatosis (disorder) | Hemochromatosis | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) | Haemochromatosis | Copper disorder | Magnesium disorder | Iron disorder | Iron, copper, magnesium metabolism disorder | Iron, copper, magnesium disord | Wilson's disease | Iron &/or copper &/or magnesium disorder (& [hemochromatosis] or [Wilson's disease]) | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) (disorder) | Haemochromatosis | Hemochromatosis | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) | Iron disorder | Iron, copper, magnesium disord | Magnesium disorder | Wilson's disease | Iron, copper, magnesium metabolism disorder | Copper disorder | Iron &/or copper &/or magnesium disorder (& [hemochromatosis] or [Wilson's disease]) | Iron &/or copper &/or magnesium disorder (& [haemochromatosis] or [Wilson's disease]) (disorder) | Hemochromatosis (disorder) | Hemochromatosis | Iron storage disease | Haemochromatosis",SNOMEDCT ID:86781004 | SNOMEDCT ID:267504005 | SNOMEDCT ID:154751003 | SNOMEDCT ID:399187006,,,,,Hemochromatosis,MeSH ID:D006432,hemochromatosis,DOID:2352,ICD10 ID:E83.11, +BMGC_DS01064,BMG_DS001368,Hemoglobin C Disease,UMLS ID:C0019021,,,,,hemoglobin C disease,MONDO:0016242,Hemoglobin C Disease,MeSH ID:D006445,hemoglobin C disease,DOID:2859,, +BMGC_DS01065,BMG_DS001369,Hemoglobin F Disease,UMLS ID:C0019025,,,,,hereditary persistence of fetal hemoglobin,MONDO:0020989,beta-Thalassemia,MeSH ID:D017086,,,, +BMGC_DS01066,BMG_DS001370,Hemoglobin SC Disease,UMLS ID:C0019034,,,,,sickle cell-hemoglobin c disease syndrome,MONDO:0016669,Hemoglobin SC Disease,MeSH ID:D006450,sickle cell anemia,DOID:10923,, +BMGC_DS01067,BMG_DS001371,Hemoglobinopathies,UMLS ID:C0019045,,,,,inherited hemoglobinopathy | hemoglobinopathy,MONDO:0019050;MONDO:0044348,Hemoglobinopathies,MeSH ID:D006453,hemoglobinopathy,DOID:2860,, +BMGC_DS01068,BMG_DS001372,,UMLS ID:C0019048,,,,,hemoglobinuria,MONDO:0003656,,,hemoglobinuria,DOID:582,, +BMGC_DS01069,BMG_DS001374,"Hemoglobinuria, Paroxysmal",UMLS ID:C0019050,,,,,,,"Hemoglobinuria, Paroxysmal",MeSH ID:D006457,paroxysmal nocturnal hemoglobinuria,DOID:0060284,, +BMGC_DS01070,BMG_DS001375,Hemolytic-Uremic Syndrome,UMLS ID:C0019061,,,,,hemolytic-uremic syndrome,MONDO:0001549,Hemolytic-Uremic Syndrome,MeSH ID:D006463,hemolytic-uremic syndrome,DOID:12554,, +BMGC_DS01071,BMG_DS001376,,UMLS ID:C0019064,,,,,hemopericardium,MONDO:0005783,,,hemopericardium,DOID:11482,, +BMGC_DS01072,BMG_DS001377,Reactive Hemophagocytic Syndrome,UMLS ID:C0019068,,,,,,,"Lymphohistiocytosis, Hemophagocytic",MeSH ID:D051359,,,, +BMGC_DS01073,BMG_DS001378,Hemophilia A,UMLS ID:C0019069,Hemophilia A | Hereditary factor VIII deficiency disease | Classical hemophilia | AHG deficiency disease | Sex-linked factor VIII deficiency | Congenital factor VIII deficiency disease | Haemophilia A | Classical haemophilia | Hereditary factor VIII deficiency disease (disorder),SNOMEDCT ID:28293008,,,hemophilia A,MONDO:0010602,Hemophilia A,MeSH ID:D006467,factor VIII deficiency,DOID:12134,ICD10 ID:D66,OMIM ID:134500 | OMIM ID:306700 +BMGC_DS01074,BMG_DS001379,Hemopneumothorax,UMLS ID:C0019077,Hemopneumothorax | Pneumohaemothorax | Pneumohemothorax | Haemopneumothorax | Hemopneumothorax (disorder),SNOMEDCT ID:16632002,Haemothorax,ICD11 ID:CB26,hemopneumothorax,MONDO:0006783,Hemopneumothorax,MeSH ID:D006468,hemopneumothorax,DOID:2718,ICD10 ID:J94.2,OMIM ID:MTHU038542 +BMGC_DS01075,BMG_DS001380,Hemorrhagic Disorders,UMLS ID:C0019087,,,,,hemorrhagic disease,MONDO:0002243,Hemorrhagic Disorders,MeSH ID:D006474,hemorrhagic disease,DOID:2213,, +BMGC_DS01076,BMG_DS001381,Hemorrhagic Disease of Newborn,UMLS ID:C0019088,,,,,hemorrhagic disease of newborn,MONDO:0006784,Vitamin K Deficiency Bleeding,MeSH ID:D006475,,,, +BMGC_DS01077,BMG_DS001384,"Hemorrhagic Fever, Crimean",UMLS ID:C0019099,,,,,Crimean-Congo hemorrhagic fever,MONDO:0020501,"Hemorrhagic Fever, Crimean",MeSH ID:D006479,Crimean-Congo hemorrhagic fever,DOID:12287,, +BMGC_DS01078,BMG_DS001385,Severe Dengue,UMLS ID:C0019100,,,,,Dengue hemorrhagic fever,MONDO:0005358,Severe Dengue,MeSH ID:D019595,dengue hemorrhagic fever,DOID:12206,, +BMGC_DS01079,BMG_DS001386,Hemorrhagic Fever with Renal Syndrome,UMLS ID:C0019101,,,,,hemorrhagic fever-renal syndrome,MONDO:0018081,Hemorrhagic Fever with Renal Syndrome,MeSH ID:D006480,Hantavirus hemorrhagic fever with renal syndrome,DOID:11266,, +BMGC_DS01080,BMG_DS001387,"Hemorrhagic Fever, Omsk",UMLS ID:C0019103,,,,,Omsk hemorrhagic fever,MONDO:0017882,"Hemorrhagic Fever, Omsk",MeSH ID:D006481,Omsk hemorrhagic fever,DOID:992,, +BMGC_DS01081,BMG_DS001389,Hemorrhoids,UMLS ID:C0019112,Hemorrhoids | Piles | Haemorrhoids | Haemorrhoid | Piles - haemorrhoids | Hemorrhoid | Piles - hemorrhoids | Hemorrhoids (disorder),SNOMEDCT ID:70153002,,,hemorrhoid,MONDO:0004872,Hemorrhoids,MeSH ID:D006484,hemorrhoid,DOID:9746,, +BMGC_DS01082,BMG_DS001390,Hemosiderosis,UMLS ID:C0019114,Hemosiderosis | Haemosiderosis | Hemosiderosis (disorder),SNOMEDCT ID:39011001,,,hemosiderosis,MONDO:0001436,Hemosiderosis,MeSH ID:D006486,hemosiderosis,DOID:12119,,OMIM ID:MTHU067796 +BMGC_DS01083,BMG_DS001392,Hepatic Coma,UMLS ID:C0019147,,,,,hepatic coma,MONDO:0001548,Hepatic Encephalopathy,MeSH ID:D006501,hepatic coma,DOID:12550,, +BMGC_DS01084,BMG_DS001393,Hepatic Encephalopathy,UMLS ID:C0019151,,,,,hepatic encephalopathy,MONDO:0001711,Hepatic Encephalopathy,MeSH ID:D006501,hepatic encephalopathy,DOID:13413,, +BMGC_DS01085,BMG_DS001394,Hepatic Vein Thrombosis,UMLS ID:C0019154,,,,,hepatic vein thrombosis,MONDO:0006786,Budd-Chiari Syndrome,MeSH ID:D006502,Budd-Chiari syndrome,DOID:11512,, +BMGC_DS01086,BMG_DS001395,Hepatic Veno-Occlusive Disease,UMLS ID:C0019156,,,,,hepatic veno-occlusive disease,MONDO:0019514,Hepatic Veno-Occlusive Disease,MeSH ID:D006504,hepatic veno-occlusive disease,DOID:0080177,, +BMGC_DS01087,BMG_DS001396,Hepatitis,UMLS ID:C0019158,Inflammatory disorder of liver | Inflammatory disease of liver | Hepatitis | Inflammatory liver disease | Inflammatory disease of liver (disorder) | Hepatitis | Hepatitis (disorder),SNOMEDCT ID:128241005 | SNOMEDCT ID:29001004,,,hepatitis,MONDO:0002251,Hepatitis,MeSH ID:D006505,,,,OMIM ID:MTHU067436 +BMGC_DS01088,BMG_DS001397,Hepatitis A,UMLS ID:C0019159,"Viral hepatitis, type A | Infectious hepatitis | Hepatitis A | IH - Infectious hepatitis | Viral hepatitis, type A (disorder)",SNOMEDCT ID:40468003,,,hepatitis A virus infection,MONDO:0005790,Hepatitis A,MeSH ID:D006506,hepatitis A,DOID:12549,, +BMGC_DS01089,BMG_DS001398,Hepatitis B,UMLS ID:C0019163,Type B viral hepatitis | Serum hepatitis | Hepatitis B | SH - Serum hepatitis | Hepatitis B infection | Viral hepatitis type B | Viral hepatitis type B (disorder),SNOMEDCT ID:66071002,,,hepatitis B virus infection,MONDO:0005344,Hepatitis B,MeSH ID:D006509,hepatitis B,DOID:2043,, +BMGC_DS01090,BMG_DS001399,"Hepatitis, Alcoholic",UMLS ID:C0019187,,,,,alcoholic hepatitis,MONDO:0001505,"Hepatitis, Alcoholic",MeSH ID:D006519,,,, +BMGC_DS01091,BMG_DS001400,"Hepatitis, Animal",UMLS ID:C0019188,,,,,"hepatitis, non-human animal",MONDO:0024945,"Hepatitis, Animal",MeSH ID:D006520,,,, +BMGC_DS01092,BMG_DS001401,"Hepatitis, Chronic",UMLS ID:C0019189,,,,,,,"Hepatitis, Chronic",MeSH ID:D006521,hepatitis,DOID:2237,, +BMGC_DS01093,BMG_DS001403,"Hepatitis, Viral, Animal",UMLS ID:C0019194,,,,,"hepatitis, viral, animal",MONDO:0025085,"Hepatitis, Viral, Animal",MeSH ID:D006524,viral hepatitis,DOID:1884,, +BMGC_DS01094,BMG_DS001404,"Hepatitis, Viral, Human",UMLS ID:C0019195,,,,,,,"Hepatitis, Viral, Human",MeSH ID:D006525,,,, +BMGC_DS01095,BMG_DS001405,Hepatitis C,UMLS ID:C0019196,Hepatitis C | Hepatitis C (disorder) | Viral hepatitis C | Type C viral hepatitis | Hepatitis C | Viral hepatitis type C | Viral hepatitis type C (disorder),SNOMEDCT ID:186643004 | SNOMEDCT ID:50711007 | SNOMEDCT ID:154349000,,,hepatitis C virus infection,MONDO:0005231,Hepatitis C,MeSH ID:D006526,hepatitis C,DOID:1883,, +BMGC_DS01096,BMG_DS001406,Hepatolenticular Degeneration,UMLS ID:C0019202,,,,,Wilson disease,MONDO:0010200,Hepatolenticular Degeneration,MeSH ID:D006527,Wilson disease,DOID:893,,OMIM ID:277900 +BMGC_DS01097,BMG_DS001407,Hepatorenal Syndrome,UMLS ID:C0019212,,,,,hepatorenal syndrome,MONDO:0001382,Hepatorenal Syndrome,MeSH ID:D006530,hepatorenal syndrome,DOID:11823,, +BMGC_DS01098,BMG_DS001408,"Angioedemas, Hereditary",UMLS ID:C0019243,,,,,hereditary angioedema,MONDO:0019623,"Angioedemas, Hereditary",MeSH ID:D054179,hereditary angioedema,DOID:14735,, +BMGC_DS01099,BMG_DS001409,Hereditary Diseases,UMLS ID:C0019247,,,,,hereditary disease,MONDO:0003847,"Genetic Diseases, Inborn",MeSH ID:D030342,genetic disease,DOID:630,, +BMGC_DS01100,BMG_DS001411,,UMLS ID:C0019269,,,,,,,,,hermaphroditism,DOID:3763,, +BMGC_DS01101,BMG_DS001412,,UMLS ID:C0019284,,,,,,,,,congenital diaphragmatic hernia,DOID:3827,, +BMGC_DS01102,BMG_DS001413,,UMLS ID:C0019294,,,,,,,,,inguinal hernia,DOID:0060320,, +BMGC_DS01103,BMG_DS001414,"Inguinal Hernia, Direct",UMLS ID:C0019295,,,,, | obsolete inguinal hernia,MONDO:0000746,"Hernia, Inguinal",MeSH ID:D006552,inguinal hernia,DOID:0060320,, +BMGC_DS01104,BMG_DS001415,,UMLS ID:C0019296,,,,,,,,,inguinal hernia,DOID:0060320,, +BMGC_DS01105,BMG_DS001418,,UMLS ID:C0019337,,,,,heroin dependence,MONDO:0005367,,,heroin dependence,DOID:9976,, +BMGC_DS01106,BMG_DS001419,Herpangina,UMLS ID:C0019338,Herpangina | Enteroviral vesicular pharyngitis | Herpangina (disorder) | Enteroviral vesicular pharyngitis | Enteroviral vesicular pharyngitis (disorder) | (Other coxsackie disease) or (herpangina) | Other coxsackie disease | Herpangina | (Other coxsackie disease) or (herpangina) (disorder) | (Other coxsackie disease) or (herpangina) | Herpangina | Other coxsackie disease | (Other coxsackie disease) or (herpangina) (disorder),SNOMEDCT ID:186659004 | SNOMEDCT ID:37428001 | SNOMEDCT ID:154358007 | SNOMEDCT ID:266197009,Enteroviral vesicular pharyngitis,ICD11 ID:1F05.1,herpangina,MONDO:0005791,Herpangina,MeSH ID:D006557,herpangina,DOID:10883,ICD10 ID:B08.5, +BMGC_DS01107,BMG_DS001420,Genital Herpes,UMLS ID:C0019342,,,,,genital herpes,MONDO:0005770,Herpes Genitalis,MeSH ID:D006558,genital herpes,DOID:8704,, +BMGC_DS01108,BMG_DS001422,Herpes Labialis,UMLS ID:C0019345,,,,,herpes labialis,MONDO:0043653,Herpes Labialis,MeSH ID:D006560,,,, +BMGC_DS01109,BMG_DS001423,Herpes simplex infection,UMLS ID:C0019348,Herpes simplex | Herpes simplex infection | Herpes simplex viral infection | Herpes simplex (disorder) | Herpes simplex complex,SNOMEDCT ID:88594005,,,herpes simplex infectious disease,MONDO:0004609,,,herpes simplex,DOID:8566,, +BMGC_DS01110,BMG_DS001424,"Keratitis, Herpetic",UMLS ID:C0019357,,,,,herpes simplex virus keratitis,MONDO:0015288,"Keratitis, Herpetic",MeSH ID:D016849,,,, +BMGC_DS01111,BMG_DS001426,Herpes zoster (disorder),UMLS ID:C0019360,Herpes zoster | Shingles | Zona | Herpes zoster infection | Herpes zoster (disorder) | Zoster,SNOMEDCT ID:4740000,,,herpes zoster,MONDO:0005609,,,herpes zoster,DOID:8536,, +BMGC_DS01112,BMG_DS001428,Herpes Zoster Ophthalmicus,UMLS ID:C0019364,,,,,ophthalmic herpes zoster,MONDO:0005883,Herpes Zoster Ophthalmicus,MeSH ID:D006563,,,, +BMGC_DS01113,BMG_DS001429,Herpes zoster without mention of complication,UMLS ID:C0019366,Herpes zoster | Shingles | Zona | Herpes zoster infection | Herpes zoster (disorder) | Zoster,SNOMEDCT ID:4740000,,,,,,,,,, +BMGC_DS01114,BMG_DS001430,Herpesviridae Infections,UMLS ID:C0019372,,,,,Herpesviridae infectious disease,MONDO:0005794,Herpesviridae Infections,MeSH ID:D006566,,,, +BMGC_DS01115,BMG_DS001433,"Deficiency, Hexosediphosphatase",UMLS ID:C0019489,,,,,,,"Fructose-1,6-Diphosphatase Deficiency",MeSH ID:D015319,,,, +BMGC_DS01116,BMG_DS001434,,UMLS ID:C0019522,,,,,sweat gland adenoma,MONDO:0021110,,,hidradenoma,DOID:3896,, +BMGC_DS01117,BMG_DS001435,High Pressure Neurological Syndrome,UMLS ID:C0019537,,,,,high pressure neurological syndrome,MONDO:0002570,High Pressure Neurological Syndrome,MeSH ID:D006610,high pressure neurological syndrome,DOID:3230,, +BMGC_DS01118,BMG_DS001438,,UMLS ID:C0019562,,,,,von Hippel-Lindau disease,MONDO:0008667,,,von Hippel-Lindau disease,DOID:14175,,OMIM ID:193300 +BMGC_DS01119,BMG_DS001439,Hirschsprung Disease,UMLS ID:C0019569,,,,,Hirschsprung disease,MONDO:0018309,Hirschsprung Disease,MeSH ID:D006627,Hirschsprung's disease,DOID:10487,, +BMGC_DS01120,BMG_DS001441,Hirsutism,UMLS ID:C0019572,Hirsuties | Pilosis | Excessive growth of hair | Hairiness | Hirsutes | Excessive hair growth | Excessive hair growth (disorder) | Hirsutism (disorder) | Hirsutism | Hirsuties | Pilosis | Hirsutes,SNOMEDCT ID:40090008 | SNOMEDCT ID:399939002,"Hirsutism, unspecified",ICD11 ID:ED72.Z,,,Hirsutism,MeSH ID:D006628,,,ICD10 ID:L68.0,OMIM ID:MTHU036369 +BMGC_DS01121,BMG_DS001442,Leech infestation,UMLS ID:C0019575,Leech infestation | Hirudiniasis | Leeches | Hirudiniasis - leech infestation | Leech infestation (disorder) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | Myiasis | Toxoplasmosis | Other infectious and parasitic diseases | Maggot infestation | Leech infestation | Other infect. and parasit.dis. | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Maggot infestation | Myiasis | Toxoplasmosis | Leech infestation | Other infectious and parasitic diseases | Other infect. and parasit.dis. | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder),SNOMEDCT ID:64351000 | SNOMEDCT ID:266225001 | SNOMEDCT ID:154423006,,,hirudiniasis,MONDO:0001191,,,leech infestation,DOID:11079,, +BMGC_DS01122,BMG_DS001443,,UMLS ID:C0019613,,,,,,,,,malignant histiocytic disease,DOID:2570,, +BMGC_DS01123,BMG_DS001444,,UMLS ID:C0019618,,,,,histiocytosis,MONDO:0002637,,,histiocytosis,DOID:3405,, +BMGC_DS01124,BMG_DS001445,,UMLS ID:C0019621,,,,,Langerhans cell histiocytosis,MONDO:0018310,,,Langerhans-cell histiocytosis,DOID:2571,,OMIM ID:604856 +BMGC_DS01125,BMG_DS001447,"Histiocytosis, Non-Langerhans-Cell",UMLS ID:C0019624,,,,,non-Langerhans cell histiocytosis,MONDO:0015531,"Histiocytosis, Non-Langerhans-Cell",MeSH ID:D015616,non-Langerhans-cell histiocytosis,DOID:4330,, +BMGC_DS01126,BMG_DS001448,,UMLS ID:C0019625,,,,,sinus histiocytosis with massive lymphadenopathy,MONDO:0006412,,,,,, +BMGC_DS01127,BMG_DS001449,Histomoniasis,UMLS ID:C0019640,Infection by Histomonas | Histomoniasis | Histomonosis | Infection caused by Histomonas | Infection caused by Histomonas (disorder),SNOMEDCT ID:35047007,,,protozoa infectious disease,MONDO:0002428,Protozoan Infections,MeSH ID:D011528,,,, +BMGC_DS01128,BMG_DS001450,Histoplasmosis,UMLS ID:C0019655,Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Aspergillosis | Mycoses - other | Histoplasmosis | Other mycoses | Piedra | Sporotrichosis | Coccidioidomycosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Coccidioidomycosis | Other mycoses | Sporotrichosis | Mycoses - other | Piedra | Histoplasmosis | Aspergillosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Histoplasmosis | Histoplasmosis (disorder),SNOMEDCT ID:154408001 | SNOMEDCT ID:266218008 | SNOMEDCT ID:12962009,,,histoplasmosis,MONDO:0018312,Histoplasmosis,MeSH ID:D006660,histoplasmosis,DOID:1731,ICD10 ID:B39, +BMGC_DS01129,BMG_DS001451,,UMLS ID:C0019681,,,,,histrionic personality disorder,MONDO:0002613,,,histrionic personality disorder,DOID:334,, +BMGC_DS01130,BMG_DS001452,HIV Infections,UMLS ID:C0019693,,,,,HIV infectious disease,MONDO:0005109,HIV Infections,MeSH ID:D015658,human immunodeficiency virus infectious disease,DOID:526,, +BMGC_DS01131,BMG_DS001453,"Hereditary, Type VII, Motor and Sensory Neuropathy",UMLS ID:C0019816,,,,,,,Hereditary Sensory and Motor Neuropathy,MeSH ID:D015417,,,, +BMGC_DS01132,BMG_DS001454,,UMLS ID:C0019829,,,,,classic Hodgkin lymphoma,MONDO:0009348,,,Hodgkin's lymphoma,DOID:8567,,OMIM ID:236000 +BMGC_DS01133,BMG_DS001456,Homocystinuria,UMLS ID:C0019880,Homocystinuria | Homocystinuria (disorder),SNOMEDCT ID:190709008 | SNOMEDCT ID:11282001,,,homocystinuria,MONDO:0004737,Homocystinuria,MeSH ID:D006712,homocystinuria,DOID:9263,ICD10 ID:E72.11,OMIM ID:MTHU037510 +BMGC_DS01134,BMG_DS001457,Hookworm Infections,UMLS ID:C0019911,,,,,,,Hookworm Infections,MeSH ID:D006725,,,, +BMGC_DS01135,BMG_DS001458,Hordeolum,UMLS ID:C0019917,Hordeolum (disorder) | Hordeolum | Stye | Sty | Boil of eyelid | Hordeolum externum | Hordeolum | Furuncle of eyelid | Stye (disorder) | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) | Cellulitis - eyelid | Cellulitis of eyelid | Meibomian cyst | Stye | Hordeolum | Stye/hordeolum | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) (disorder) | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) | Hordeolum | Stye | Meibomian cyst | Cellulitis - eyelid | Stye/hordeolum | Cellulitis of eyelid | (Stye &/or [hordeolum]) or (cellulitis eyelid) or (meibomian cyst) (disorder) | Hordeolum | Hordeolum (disorder),SNOMEDCT ID:397513003 | SNOMEDCT ID:193912000 | SNOMEDCT ID:267736000 | SNOMEDCT ID:155172004 | SNOMEDCT ID:74612003,,,hordeolum,MONDO:0005800,Hordeolum,MeSH ID:D006726,hordeolum,DOID:9909,, +BMGC_DS01136,BMG_DS001460,Hordeolum externum,UMLS ID:C0019919,"Hordeolum externum | Hordeolum externum (disorder) | External hordeolum | Stye | Boil of eyelid | Sty | Furuncle of eyelid | Hordeolum, external | Stye | Sty | Boil of eyelid | Hordeolum externum | Hordeolum | Furuncle of eyelid | Stye (disorder)",SNOMEDCT ID:1489008 | SNOMEDCT ID:193912000,,,hordeolum externum,MONDO:0001642,,,hordeolum externum,DOID:13134,ICD10 ID:H00.01, +BMGC_DS01137,BMG_DS001461,Horner Syndrome,UMLS ID:C0019937,,,,,Horner syndrome,MONDO:0001294,Horner Syndrome,MeSH ID:D006732,Horner's syndrome,DOID:11486,, +BMGC_DS01138,BMG_DS001462,Horse Diseases,UMLS ID:C0019940,,,,,horse disease,MONDO:0024950,Horse Diseases,MeSH ID:D006734,,,, +BMGC_DS01139,BMG_DS001463,"Hereditary Sensory Autonomic Neuropathy, Type 1",UMLS ID:C0020071,,,,,hereditary sensory and autonomic neuropathy type 1,MONDO:0018213,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory and autonomic neuropathy type 1 | hereditary sensory neuropathy,DOID:0050548;DOID:0070162,, +BMGC_DS01140,BMG_DS001464,"Hereditary Sensory Autonomic Neuropathy, Type 2",UMLS ID:C0020072,,,,,,,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory neuropathy | hereditary sensory and autonomic neuropathy type 2,DOID:0050548;DOID:0070161,, +BMGC_DS01141,BMG_DS001465,HSAN Type IV,UMLS ID:C0020074,,,,,hereditary sensory and autonomic neuropathy type 4,MONDO:0009746,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory neuropathy type 4 | hereditary sensory neuropathy,DOID:0050548;DOID:0070146,,OMIM ID:256800 +BMGC_DS01142,BMG_DS001466,"Hereditary Sensory Autonomic Neuropathy, Type 5",UMLS ID:C0020075,,,,,hereditary sensory and autonomic neuropathy type 5,MONDO:0012092,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory neuropathy | hereditary sensory and autonomic neuropathy type 5,DOID:0050548;DOID:0070145,,OMIM ID:608654 +BMGC_DS01143,BMG_DS001468,HTLV-I Infections,UMLS ID:C0020097,,,,,human T-lymphotropic virus 1 infectious disease,MONDO:0005801,HTLV-I Infections,MeSH ID:D015490,,,, +BMGC_DS01144,BMG_DS001470,Huntington Disease,UMLS ID:C0020179,,,,,Huntington disease,MONDO:0007739,Huntington Disease,MeSH ID:D006816,Huntington's disease,DOID:12858,,OMIM ID:143100 +BMGC_DS01145,BMG_DS001471,Hyaline Membrane Disease,UMLS ID:C0020192,,,,,,,Hyaline Membrane Disease,MeSH ID:D006819,newborn respiratory distress syndrome,DOID:12716,, +BMGC_DS01146,BMG_DS001472,,UMLS ID:C0020217,,,,,hydatidiform mole,MONDO:0006248,,,gestational trophoblastic neoplasm,DOID:3590,, +BMGC_DS01147,BMG_DS001473,,UMLS ID:C0020224,,,,,polyhydramnios,MONDO:0004585,,,polyhydramnios,DOID:8488,, +BMGC_DS01148,BMG_DS001474,,UMLS ID:C0020225,,,,,hydranencephaly,MONDO:0016344,,,hydranencephaly,DOID:4626,, +BMGC_DS01149,BMG_DS001475,Hydroa Vacciniforme,UMLS ID:C0020241,,,,,hydroa vacciniforme,MONDO:0018024,Hydroa Vacciniforme,MeSH ID:D006837,,,, +BMGC_DS01150,BMG_DS001476,Hydrocephalus,UMLS ID:C0020255,Hydrocephalus | Hydrocephalus (disorder) | Hydrocephaly | Hydrocephalus | Hydrocephalus (disorder) | Child cerebral degeneration | Senile brain degen. | Hydrocephalus | Senile degeneration of brain | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | Hydrocephalus | Senile brain degen. | Senile degeneration of brain | Child cerebral degeneration | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder),SNOMEDCT ID:230745008 | SNOMEDCT ID:154997008 | SNOMEDCT ID:154995000 | SNOMEDCT ID:192807008 | SNOMEDCT ID:267687006,,,hydrocephalus,MONDO:0001150,Hydrocephalus,MeSH ID:D006849,hydrocephalus,DOID:10908,ICD10 ID:G91,OMIM ID:MTHU002499 +BMGC_DS01151,BMG_DS001477,,UMLS ID:C0020256,,,,,congenital hydrocephalus,MONDO:0016349,,,,,, +BMGC_DS01152,BMG_DS001478,"Hydrocephalus, Normal Pressure",UMLS ID:C0020258,,,,,normal pressure hydrocephalus,MONDO:0009366,"Hydrocephalus, Normal Pressure",MeSH ID:D006850,normal pressure hydrocephalus,DOID:1572,,OMIM ID:236690 +BMGC_DS01153,BMG_DS001479,Hydronephrosis,UMLS ID:C0020295,Hydronephrosis | Hydronephrosis (disorder),SNOMEDCT ID:155866001 | SNOMEDCT ID:43064006,,,hydronephrosis,MONDO:0005510,Hydronephrosis,MeSH ID:D006869,hydronephrosis,DOID:11111,,OMIM ID:MTHU001611 +BMGC_DS01154,BMG_DS001480,,UMLS ID:C0020302,,,,,congenital glaucoma,MONDO:0020366,,,hydrophthalmos,DOID:11212,, +BMGC_DS01155,BMG_DS001481,Hydrops Fetalis,UMLS ID:C0020305,,,,,hydrops fetalis,MONDO:0015193,Hydrops Fetalis,MeSH ID:D015160,,,, +BMGC_DS01156,BMG_DS001482,Hydrothorax,UMLS ID:C0020312,(Pleural effusion NOS) or (haemothorax) or (hydrothorax) | Hemothorax | Hydrothorax | Pleural effusion NOS | Haemothorax | (Pleural effusion NOS) or (hemothorax) or (hydrothorax) | (Pleural effusion NOS) or (haemothorax) or (hydrothorax) (disorder) | (Pleural effusion NOS) or (hemothorax) or (hydrothorax) | Pleural effusion NOS | Hydrothorax | (Pleural effusion NOS) or (haemothorax) or (hydrothorax) | Hemothorax | Haemothorax | (Pleural effusion NOS) or (haemothorax) or (hydrothorax) (disorder) | Hydrothorax | Pleural effusion with transudate | Hydrothorax (disorder),SNOMEDCT ID:266407006 | SNOMEDCT ID:155608000 | SNOMEDCT ID:79231000,"Pleural, diaphragm or mediastinal disorders, unspecified",ICD11 ID:CB2Z,,,Hydrothorax,MeSH ID:D006876,,,ICD10 ID:J94.8,OMIM ID:MTHU037917 +BMGC_DS01157,BMG_DS001483,Hymenolepiasis,UMLS ID:C0020413,Dwarf tapeworm infection | Hymenolepiasis | Rat tapeworm infection | Hymenolepiasis (& [dwarf] or [rat]) | Hymenolepiasis (& [dwarf] or [rat]) (disorder) | Hymenolepiasis | Hymenolepiosis | Hymenolepiasis (disorder),SNOMEDCT ID:187153007 | SNOMEDCT ID:44917000,Hymenolepiasis,ICD11 ID:1F74,hymenolepiasis,MONDO:0005802,Hymenolepiasis,MeSH ID:D006925,hymenolepiasis,DOID:10074,ICD10 ID:B71.0, +BMGC_DS01158,BMG_DS001484,Hyperaldosteronism,UMLS ID:C0020428,Aldosteronism | Hyperaldosteronism | Aldosteronism (disorder) | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] | Conn's syndrome | Hyperaldosteronism | Waterhouse-Friderichen | Other adrenal disorders | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] (disorder) | Hyperaldosteronism (& [Bartter's syndrome] or [Conn's syndrome]) | Aldosteronism | Hyperaldosteronism | Bartter's syndrome | Conn's syndrome | Hyperaldosteronism (& [Bartter's syndrome] or [Conn's syndrome]) (disorder) | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] | Conn's syndrome | Other adrenal disorders | Hyperaldosteronism | Waterhouse-Friderichen | Adrenal disorders: [other] or [Conn's syndrome] or [hyperaldosteronism] or [Waterhouse-Friderichen] (disorder),SNOMEDCT ID:88213004 | SNOMEDCT ID:154709005 | SNOMEDCT ID:190506003 | SNOMEDCT ID:267484005,,,hyperaldosteronism,MONDO:0003009,Hyperaldosteronism,MeSH ID:D006929,primary hyperaldosteronism,DOID:446,ICD10 ID:E26,OMIM ID:MTHU038571 +BMGC_DS01159,BMG_DS001485,Hyperbilirubinemia,UMLS ID:C0020433,Hyperbilirubinemia | Hyperbilirubinaemia | Hyperbilirubinemia (disorder) | Hyperbilirubinemia | Hyperbilirubinaemia (& [Gilbert's syndrome]) | Gilbert's syndrome | Hyperbilirubinaemia | Hyperbilirubinemia (& [Gilbert's syndrome]) | Hyperbilirubinaemia (& [Gilbert's syndrome]) (disorder) | Hyperbilirubinemia | Hyperbilirubinaemia | Bilirubinemia | Bilirubinaemia | Hyperbilirubinemia (disorder) | Gilbert's syndrome | Hyperbilirubinemia (& [Gilbert's syndrome]) | Hyperbilirubinaemia (& [Gilbert's syndrome]) | Hyperbilirubinaemia | Hyperbilirubinemia | Hyperbilirubinaemia (& [Gilbert's syndrome]) (disorder),SNOMEDCT ID:235904007 | SNOMEDCT ID:267509000 | SNOMEDCT ID:14783006 | SNOMEDCT ID:154770008,,,,,Hyperbilirubinemia,MeSH ID:D006932,bilirubin metabolic disorder,DOID:2741,, +BMGC_DS01160,BMG_DS001486,"Hyperbilirubinemia, Hereditary",UMLS ID:C0020435,,,,,hereditary hyperbilirubinemia,MONDO:0002408,"Hyperbilirubinemia, Hereditary",MeSH ID:D006933,bilirubin metabolic disorder,DOID:2741,, +BMGC_DS01161,BMG_DS001487,Hypercalcemia,UMLS ID:C0020437,"Hypercalcemia | Hypercalcemia syndrome | Hypercalcaemia syndrome | Hypercalcaemia | Hypercalcemia (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Nephrocalcinosis | Calcium disorder | Phosphorus, calcium disorders | Hypercalcinuria | Phosphorus and calcium disorders | Phosphorus disorder | Hypocalcaemia | Hypercalcaemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | Hypercalcemia | Hypocalcemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Nephrocalcinosis | Phosphorus and calcium disorders | Phosphorus, calcium disorders | Hypercalcinuria | Phosphorus disorder | Calcium disorder | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | Hypercalcemia | Hypocalcemia | Hypocalcaemia | Hypercalcaemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder)",SNOMEDCT ID:66931009 | SNOMEDCT ID:267505006 | SNOMEDCT ID:154752005,,,hypercalcemia disease,MONDO:0001566,Hypercalcemia,MeSH ID:D006934,hypercalcemia,DOID:12678,ICD10 ID:E83.52, +BMGC_DS01162,BMG_DS001488,Hypercementosis,UMLS ID:C0020441,Hypercementosis | Cementation hyperplasia | Cementum hyperplasia | Cementosis | Hypercementosis (disorder),SNOMEDCT ID:78537008,Cementum dysplasia,ICD11 ID:DA07.5,hypercementosis,MONDO:0006790,Hypercementosis,MeSH ID:D006936,hypercementosis,DOID:12733,ICD10 ID:K03.4, +BMGC_DS01163,BMG_DS001489,Hypercholesterolemia,UMLS ID:C0020443,Hypercholesterolemia | Hypercholesterolaemia | Hypercholesterolemia (disorder) | High cholesterol | Cholesterolaemia-famil. | Congenital xanthoma | Xanthoma - congenital | (Hypercholesterolemia: [pure] or [familial]) or (xanthoma - congenital) | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) | Pure hypercholesterolaemia | Hypercholesterolaemia | Hypercholesterolemia | Pure hypercholesterolemia | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) (disorder) | Congenital xanthoma | Cholesterolaemia-famil. | Xanthoma - congenital | Hypercholesterolaemia | Pure hypercholesterolaemia | Hypercholesterolemia | Pure hypercholesterolemia | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) | (Hypercholesterolemia: [pure] or [familial]) or (xanthoma - congenital) | (Hypercholesterolaemia: [pure] or [familial]) or (xanthoma - congenital) (disorder),SNOMEDCT ID:13644009 | SNOMEDCT ID:154740003 | SNOMEDCT ID:267500001,,,,,Hypercholesterolemia,MeSH ID:D006937,,,,OMIM ID:MTHU030735 +BMGC_DS01164,BMG_DS001490,"Hypercholesterolemia, Familial",UMLS ID:C0020445,,,,,familial hypercholesterolemia,MONDO:0005439,Hyperlipoproteinemia Type II,MeSH ID:D006938,familial hypercholesterolemia,DOID:13810,, +BMGC_DS01165,BMG_DS001491,,UMLS ID:C0020450,,,,,hyperemesis gravidarum,MONDO:0006791,,,,,, +BMGC_DS01166,BMG_DS001493,Hyperemia,UMLS ID:C0020452,Hyperemia | Vascular engorgement | Local congestion | Engorgement | Hyperaemia | Hyperemia (morphologic abnormality) | Erythema | Erythema (finding) | Erythema - observation,SNOMEDCT ID:30098003 | SNOMEDCT ID:247441003,,,,,Hyperemia,MeSH ID:D006940,,,,OMIM ID:MTHU054354 +BMGC_DS01167,BMG_DS001495,Hypergammaglobulinemia,UMLS ID:C0020455,(Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Erythrocytosis - familial | Other blood diseases | Familial erythrocytosis | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | Hypergammaglobulinaemia | Hypergammaglobulinemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder) | Hypergammaglobulinemia | Hypergammaglobulinaemia | Hypergammaglobulinemia (finding) | Hypergammaglobulinaemia | Hypergammaglobulinemia | Hypergammaglobulinemia (finding) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Familial erythrocytosis | Other blood diseases | Erythrocytosis - familial | Hypergammaglobulinaemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | Hypergammaglobulinemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder),SNOMEDCT ID:154840005 | SNOMEDCT ID:127388009 | SNOMEDCT ID:191396003 | SNOMEDCT ID:267571003,,,,,Hypergammaglobulinemia,MeSH ID:D006942,,,,OMIM ID:MTHU032383 +BMGC_DS01168,BMG_DS001496,Hyperglycemia,UMLS ID:C0020456,Hyperglycaemia | Hyperglycemia | Hyperglycaemia (disorder) | Hyperglycemia | Hyperglycaemia | Hyperglycemia (disorder) | Sugar result - blood | Blood sugar result | Plasma glucose level | Glucose result - blood | Blood glucose result | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycemia) | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) | Hyperglycemia | Hyperglycaemia | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) (procedure) | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycemia) | Blood glucose result | Sugar result - blood | Glucose result - blood | Blood sugar result | Plasma glucose level | Hyperglycaemia | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) | Hyperglycemia | (Blood sugar result [& glucose]) or (plasma glucose level) or (hyperglycaemia) (procedure),SNOMEDCT ID:154719004 | SNOMEDCT ID:80394007 | SNOMEDCT ID:144187006 | SNOMEDCT ID:270004003,,,hyperglycemia,MONDO:0002909,Hyperglycemia,MeSH ID:D006943,hyperglycemia,DOID:4195,,OMIM ID:MTHU002042 +BMGC_DS01169,BMG_DS001497,Hyperglycemic Hyperosmolar Nonketotic Coma,UMLS ID:C0020457,,,,,,,Hyperglycemic Hyperosmolar Nonketotic Coma,MeSH ID:D006944,,,, +BMGC_DS01170,BMG_DS001498,Hyperinsulinism,UMLS ID:C0020459,Hyperinsulinism | Zollinger - Ellison syndrome | Zollinger-Ellison syndrome | Other pancreatic secretion dis | Zollinger-Ellison syndr | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Zollinger-Ellison syndr | Zollinger-Ellison syndrome | Other pancreatic secretion dis | Hyperinsulinism | Zollinger - Ellison syndrome | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Hyperinsulinism | Hyperinsulinism (disorder) | Hyperinsulinaemia | Hyperinsulinemia,SNOMEDCT ID:154694003 | SNOMEDCT ID:267477002 | SNOMEDCT ID:83469008,,,hyperinsulinism,MONDO:0002177,Hyperinsulinism,MeSH ID:D006946,hyperinsulinism,DOID:2018,, +BMGC_DS01171,BMG_DS001499,Hyperlipidemia,UMLS ID:C0020473,Hyperlipidemia | Hyperlipidaemia | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidemia]) | Fredrickson types | Disorders of lipid metabolism | Lipid metabol. disorder | Disorder of lipid metabolism | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) (disorder) | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidemia]) | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) | Hyperlipidemia | Hyperlipidaemia | Fredrickson types | Disorder of lipid metabolism | Disorders of lipid metabolism | Lipid metabol. disorder | Disorders of lipid metabolism (& [Fredrickson types] or [hyperlipidaemia]) (disorder) | Hyperlipidemia | Lipidemia | HLD - Hyperlipidemia | HLD - Hyperlipidaemia | Hyperlipidaemia | Lipidaemia | Hyperlipidemia (disorder),SNOMEDCT ID:154739000 | SNOMEDCT ID:267499005 | SNOMEDCT ID:55822004,,,hyperlipidemia,MONDO:0021187,Hyperlipidemias,MeSH ID:D006949,familial hyperlipidemia,DOID:1168,,OMIM ID:MTHU002043 +BMGC_DS01172,BMG_DS001500,"Hyperlipidemia, Familial Combined",UMLS ID:C0020474,,,,,"obsolete familial combined hyperlipidemia | hyperlipidemia, familial combined, LPL related",MONDO:0001807;MONDO:0007759,"Hyperlipidemia, Familial Combined",MeSH ID:D006950,familial combined hyperlipidemia,DOID:13809,,OMIM ID:144250 +BMGC_DS01173,BMG_DS001501,Hyperlipoproteinemias,UMLS ID:C0020476,,,,,hyperlipoproteinemia,MONDO:0037748,Hyperlipoproteinemias,MeSH ID:D006951,familial hyperlipidemia,DOID:1168,, +BMGC_DS01174,BMG_DS001502,Hyperlipoproteinemia Type III,UMLS ID:C0020479,,,,,hyperlipoproteinemia type 3,MONDO:0018473,Hyperlipoproteinemia Type III,MeSH ID:D006952,hyperlipoproteinemia type III,DOID:3145,,OMIM ID:617347 +BMGC_DS01175,BMG_DS001503,Hyperlipoproteinemia Type IV,UMLS ID:C0020480,,,,,obsolete hyperlipoproteinemia type IV,MONDO:0007761,Hyperlipoproteinemia Type IV,MeSH ID:D006953,hyperlipoproteinemia type IV,DOID:1172,,OMIM ID:144600 +BMGC_DS01176,BMG_DS001504,Hyperlipoproteinemia Type V,UMLS ID:C0020481,,,,,hyperlipoproteinemia type V,MONDO:0007762,Hyperlipoproteinemia Type V,MeSH ID:D006954,hyperlipoproteinemia type V,DOID:1171,,OMIM ID:144650 +BMGC_DS01177,BMG_DS001505,Hypernatremia,UMLS ID:C0020488,Hypernatremia | Na overload | Na excess | Sodium retention | Hypernatraemia | Hypernatremia (disorder) | Sodium overload | Sodium overload | Hypernatremia | Na excess | Na overload | Hypernatraemia | Hypernatremia (disorder) | Hyperosmolality &/or hypernatremia | Hypernatraemia | Hyperosmolality and or hypernatraemia | Hypernatremia | Hyperosmolality and or hypernatremia | Hyperosmolality &/or hypernatraemia | Hyperosmolality &/or hypernatraemia (disorder),SNOMEDCT ID:39355002 | SNOMEDCT ID:771115008 | SNOMEDCT ID:190879002,,,,,Hypernatremia,MeSH ID:D006955,,,,OMIM ID:MTHU007803 +BMGC_DS01178,BMG_DS001506,Hyperopia,UMLS ID:C0020490,Hypermetropia | Hyperopia | Farsightedness | Hypermetropia (disorder) | Longsightedness | Longsighted,SNOMEDCT ID:38101003,,,hyperopia,MONDO:0004891,Hyperopia,MeSH ID:D006956,hyperopia,DOID:9834,,OMIM ID:MTHU036505 +BMGC_DS01179,BMG_DS001507,Hyperostosis,UMLS ID:C0020492,Hypertrophy of bone | Bony overgrowth | Hyperostosis | Hypertrophy of bone (morphologic abnormality),SNOMEDCT ID:13814009,,,hyperostosis,MONDO:0002185,Hyperostosis,MeSH ID:D015576,hyperostosis,DOID:205,,OMIM ID:MTHU036636 +BMGC_DS01180,BMG_DS001509,Hyperostosis of skull,UMLS ID:C0020496,Skull enlargement | Large skull | Large head | Large head (disorder) | Hyperostosis of skull (finding) | Hyperostosis of skull | Hyperostosis of skull (disorder) | Hyperostosis of skull,SNOMEDCT ID:12138000 | SNOMEDCT ID:788954009 | SNOMEDCT ID:17401000119104,Hyperostosis of skull,ICD11 ID:FB80.3,,,,,sclerosteosis 1 | sclerosteosis 2,DOID:0060756;DOID:0060757,ICD10 ID:M85.2, +BMGC_DS01181,BMG_DS001510,Cortical Congenital Hyperostosis,UMLS ID:C0020497,,,,,Caffey disease,MONDO:0007244,"Hyperostosis, Cortical, Congenital",MeSH ID:D006958,Caffey disease,DOID:4257,,OMIM ID:114000 +BMGC_DS01182,BMG_DS001511,"Hyperostosis, Diffuse Idiopathic Skeletal",UMLS ID:C0020498,,,,,diffuse idiopathic skeletal hyperostosis,MONDO:0007127,"Hyperostosis, Diffuse Idiopathic Skeletal",MeSH ID:D004057,diffuse idiopathic skeletal hyperostosis,DOID:6652,, +BMGC_DS01183,BMG_DS001513,Hyperoxaluria,UMLS ID:C0020500,Hyperoxaluria | Hyperoxaluria (disorder),SNOMEDCT ID:367621000119107,,,,,Hyperoxaluria,MeSH ID:D006959,primary hyperoxaluria,DOID:2977,ICD10 ID:R82.992,OMIM ID:MTHU037859 +BMGC_DS01184,BMG_DS001514,Primary Hyperoxaluria,UMLS ID:C0020501,,,,,primary hyperoxaluria,MONDO:0002474,"Hyperoxaluria, Primary",MeSH ID:D006960,primary hyperoxaluria,DOID:2977,, +BMGC_DS01185,BMG_DS001515,Hyperparathyroidism,UMLS ID:C0020502,Hyperparathyroidism | Hyperparathyroidism (disorder) | Hyperparathyroidism | HPTH - Hyperparathyroidism | Hyperparathyroidism (disorder) | Hyperparathyroidism (& [osteitis fibrosa cystica] or [Von Recklinghausen's bone disease]) | Osteitis fibrosa cystica | Von Recklinghausen's bone disease | Hyperparathyroidism | Hyperparathyroidism (& [osteitis fibrosa cystica] or [Von Recklinghausen's bone disease]) (disorder),SNOMEDCT ID:154696001 | SNOMEDCT ID:66999008 | SNOMEDCT ID:190451000,,,hyperparathyroidism,MONDO:0001741,Hyperparathyroidism,MeSH ID:D006961,hyperparathyroidism,DOID:13543,,OMIM ID:MTHU036868 +BMGC_DS01186,BMG_DS001516,"Hyperparathyroidism, Secondary",UMLS ID:C0020503,,,,,secondary hyperparathyroidism,MONDO:0006964,"Hyperparathyroidism, Secondary",MeSH ID:D006962,secondary hyperparathyroidism,DOID:12466,, +BMGC_DS01187,BMG_DS001517,Hyperpituitarism,UMLS ID:C0020506,Hyperpituitarism | Pituitary hyperfunction | Anterior pituitary hyperfunction | Hyperpituitarism (disorder) | Pituitary hyperfunction (ant.),SNOMEDCT ID:10649000,,,hyperpituitarism,MONDO:0006793,Hyperpituitarism,MeSH ID:D006964,hyperpituitarism,DOID:2444,, +BMGC_DS01188,BMG_DS001518,,UMLS ID:C0020507,,,,,hyperplasia,MONDO:0005043,,,,,, +BMGC_DS01189,BMG_DS001519,Hyperprolactinemia,UMLS ID:C0020514,Hyperprolactinemia | Hyperprolactinaemia | Hyperprolactinaemia (disorder) | Hyperprolactinemia | Hyperprolactinaemia | Hyperprolactinemia (disorder) | Idiopathic hyperprolactinemia | Idiopathic hyperprolactinaemia | Idiopathic hyperprolactinemia (disorder),SNOMEDCT ID:190468001 | SNOMEDCT ID:237662005 | SNOMEDCT ID:21170004,Hyperprolactinaemia,ICD11 ID:5A60.1,hyperprolactinemia,MONDO:0005804,Hyperprolactinemia,MeSH ID:D006966,hyperprolactinemia,DOID:12700,ICD10 ID:E22.1,OMIM ID:MTHU037102 +BMGC_DS01190,BMG_DS001520,,UMLS ID:C0020517,,,,,allergic disease,MONDO:0005271,,,allergic disease,DOID:1205,, +BMGC_DS01191,BMG_DS001521,,UMLS ID:C0020522,,,,,type IV hypersensitivity disease,MONDO:0002459,,,,,, +BMGC_DS01192,BMG_DS001522,Hypersomnia with Periodic Respiration,UMLS ID:C0020529,,,,,,,Sleep Apnea Syndromes,MeSH ID:D012891,,,, +BMGC_DS01193,BMG_DS001523,Hypersplenism,UMLS ID:C0020532,Diseases of spleen (& [hypersplenism] or [infarct]) | Spleen disease | Hypersplenism | Splenic infarct | Diseases of spleen | Diseases of spleen (& [hypersplenism] or [infarct]) (disorder) | Hypersplenism | Dyssplenism | Big spleen syndrome | Hypersplenia | Hypersplenism (disorder) | Diseases of spleen (& [hypersplenism] or [infarct]) | Hypersplenism | Spleen disease | Diseases of spleen | Splenic infarct | Diseases of spleen (& [hypersplenism] or [infarct]) (disorder),SNOMEDCT ID:267570002 | SNOMEDCT ID:58381000 | SNOMEDCT ID:154839008,Hypersplenism,ICD11 ID:3B81.B,hypersplenism,MONDO:0006795,Hypersplenism,MeSH ID:D006971,hypersplenism,DOID:6376,ICD10 ID:D73.1,OMIM ID:MTHU037461 +BMGC_DS01194,BMG_DS001524,Hypertensive disease,UMLS ID:C0020538,"(Hypertensive disease) or (hypertension) | Hypertensive disease | Hypertension | (Hypertensive disease) or (hypertension) (disorder) | High blood pressure | Hypertensive vascular disease | Hypertensive vascular degeneration | Hypertension | BP - High blood pressure | Systemic arterial hypertension | HBP - High blood pressure | HT - Hypertension | High blood pressure disorder | BP+ - Hypertension | Hypertensive disorder, systemic arterial (disorder) | Hypertensive disorder | HTN - Hypertension | Hypertensive disorder, systemic arterial | (Hypertensive disease) or (hypertension) | Hypertension | Hypertensive disease | (Hypertensive disease) or (hypertension) (disorder) | Hypertensive disease | Hypertensive disease (disorder)",SNOMEDCT ID:155295004 | SNOMEDCT ID:38341003 | SNOMEDCT ID:266287006 | SNOMEDCT ID:194756002,,,hypertensive disorder,MONDO:0005044,,,hypertension,DOID:10763,, +BMGC_DS01195,BMG_DS001525,Malignant Hypertension,UMLS ID:C0020540,,,,,malignant hypertension,MONDO:0006846,"Hypertension, Malignant",MeSH ID:D006974,malignant hypertension,DOID:10824,, +BMGC_DS01196,BMG_DS001526,Portal Hypertension,UMLS ID:C0020541,,,,,portal hypertension,MONDO:0005080,"Hypertension, Portal",MeSH ID:D006975,portal hypertension,DOID:10762,, +BMGC_DS01197,BMG_DS001527,,UMLS ID:C0020542,,,,,pulmonary hypertension,MONDO:0005149,,,pulmonary hypertension,DOID:6432,, +BMGC_DS01198,BMG_DS001528,Renal hypertension,UMLS ID:C0020544,(Renal hypertension) or (hypertensive renal disease NOS) | Hypertensive renal disease NOS | Renal hypertension | (Renal hypertension) or (hypertensive renal disease NOS) (disorder) | Renal hypertension | Renal hypertension (disorder),SNOMEDCT ID:194775007 | SNOMEDCT ID:28119000,,,renal hypertension,MONDO:0001105,,,renal hypertension,DOID:1073,, +BMGC_DS01199,BMG_DS001529,"Hypertension, Renovascular",UMLS ID:C0020545,,,,,renovascular hypertension,MONDO:0006947,"Hypertension, Renovascular",MeSH ID:D006978,renovascular hypertension,DOID:1591,, +BMGC_DS01200,BMG_DS001530,Hyperthyroidism,UMLS ID:C0020550,"Hyperthyroidism | Hyperthyroidism (disorder) | Goiter - toxic | Thyrotoxicosis +/- goiter | Toxic goiter | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Toxic goitre | Goitre - toxic | Thyrotoxicosis +/- goitre | Toxic thyroid nodule | Thyrotoxicosis | Hyperthyroidism | Graves' disease | Nodule - thyroid, toxic | Graves disease | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | Hyperthyroidism | Graves' disease | Nodule - thyroid, toxic | Graves disease | Thyrotoxicosis | Toxic thyroid nodule | Toxic goitre | Thyrotoxicosis +/- goitre | Goitre - toxic | Goiter - toxic | Thyrotoxicosis +/- goiter | Toxic goiter | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | Toxic goiter | Toxic goitre | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goiter) | Hyperthyroidism | Thyrotoxicosis | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) (disorder)",SNOMEDCT ID:34486009 | SNOMEDCT ID:267464006 | SNOMEDCT ID:154655004 | SNOMEDCT ID:190239004,,,hyperthyroidism,MONDO:0004425,Hyperthyroidism,MeSH ID:D006980,hyperthyroidism,DOID:7998,,OMIM ID:MTHU001214 +BMGC_DS01201,BMG_DS001531,Hyperthyroxinemia,UMLS ID:C0020551,,,,,hyperthyroxinemia,MONDO:0005333,Hyperthyroxinemia,MeSH ID:D006981,hyperthyroxinemia,DOID:2855,, +BMGC_DS01202,BMG_DS001532,Hypertrichosis,UMLS ID:C0020555,Hypertrichosis | Hypertrichosis (disorder) | Hypertrichosis | Excessive hairiness | Polytrichia | Hypertrichiasis | Polytrichosis | Hirsutism - hypertrichosis | Hypertrichosis (disorder),SNOMEDCT ID:156409007 | SNOMEDCT ID:201164001 | SNOMEDCT ID:29966009,,,hypertrichosis,MONDO:0019280,Hypertrichosis,MeSH ID:D006983,hypertrichosis,DOID:420,ICD10 ID:L68,OMIM ID:MTHU036754 +BMGC_DS01203,BMG_DS001533,Hypertriglyceridemia,UMLS ID:C0020557,Hypertriglyceridaemia | Hypertriglyceridemia | Hypertriglyceridemia (disorder),SNOMEDCT ID:302870006,,,,,Hypertriglyceridemia,MeSH ID:D015228,,,, +BMGC_DS01204,BMG_DS001534,Hypertrophic elongation of cervix,UMLS ID:C0020561,Hypertrophic elongation of cervix | Hypertrophic elongation of cervix (disorder),SNOMEDCT ID:35863000 | SNOMEDCT ID:198353000,,,hypertrophic elongation of cervix,MONDO:0002255,,,hypertrophic elongation of cervix,DOID:2251,, +BMGC_DS01205,BMG_DS001535,,UMLS ID:C0020565,,,,,hypertrophy of breast,MONDO:0001100,,,hypertrophy of breast,DOID:10688,, +BMGC_DS01206,BMG_DS001536,Hypertropia,UMLS ID:C0020575,Hypertropia | Hypertropia (disorder),SNOMEDCT ID:40608009,Vertical or torsional strabismus,ICD11 ID:9C80.2,hypertropia,MONDO:0004893,Strabismus,MeSH ID:D013285,hypertropia,DOID:9837,ICD10 ID:H50.2,OMIM ID:MTHU037273 +BMGC_DS01207,BMG_DS001537,Hypervitaminosis A,UMLS ID:C0020579,Hypervitaminosis A | Hypervitaminosis A (disorder),SNOMEDCT ID:64559002,Hypervitaminosis A,ICD11 ID:5B90.0,hypervitaminosis A,MONDO:0006798,Hypervitaminosis A,MeSH ID:D006986,hypervitaminosis A,DOID:9972,ICD10 ID:E67.0, +BMGC_DS01208,BMG_DS001539,,UMLS ID:C0020594,,,,,hypoactive sexual desire disorder,MONDO:0001821,,,hypoactive sexual desire disorder,DOID:13868,, +BMGC_DS01209,BMG_DS001540,Hypoaldosteronism,UMLS ID:C0020595,Aldosterone deficiency | Aldosterone deficiency (disorder) | Hypoaldosteronism,SNOMEDCT ID:60086000,,,,,Hypoaldosteronism,MeSH ID:D006994,,,ICD10 ID:E27.40,OMIM ID:MTHU041707 +BMGC_DS01210,BMG_DS001541,Hypobetalipoproteinemias,UMLS ID:C0020597,,,,,hypobetalipoproteinemia,MONDO:0017774,Hypobetalipoproteinemias,MeSH ID:D006995,hypobetalipoproteinemia,DOID:1390,, +BMGC_DS01211,BMG_DS001542,Hypocalcemia,UMLS ID:C0020598,"(Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Nephrocalcinosis | Calcium disorder | Phosphorus, calcium disorders | Hypercalcinuria | Phosphorus and calcium disorders | Phosphorus disorder | Hypocalcaemia | Hypercalcaemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | Hypercalcemia | Hypocalcemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Nephrocalcinosis | Phosphorus and calcium disorders | Phosphorus, calcium disorders | Hypercalcinuria | Phosphorus disorder | Calcium disorder | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | Hypercalcemia | Hypocalcemia | Hypocalcaemia | Hypercalcaemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | Hypocalcemia | Hypocalcemia syndrome | Calcium deficiency disease | Hypocalcaemia syndrome | Hypocalcaemia | Hypocalcemia (disorder)",SNOMEDCT ID:267505006 | SNOMEDCT ID:154752005 | SNOMEDCT ID:5291005,,,,,Hypocalcemia,MeSH ID:D006996,,,ICD10 ID:E83.51,OMIM ID:MTHU036379 +BMGC_DS01212,BMG_DS001543,Hypocalciuria,UMLS ID:C0020599,Hypocalciuria | Hypocalciuria (disorder),SNOMEDCT ID:86353007,,,,,,,,,,OMIM ID:MTHU017734 +BMGC_DS01213,BMG_DS001544,,UMLS ID:C0020604,,,,,hypochondriasis,MONDO:0001596,,,hypochondriasis,DOID:12883,, +BMGC_DS01214,BMG_DS001545,Hypodermyiasis,UMLS ID:C0020607,,,,,hypodermyiasis,MONDO:0005805,Hypodermyiasis,MeSH ID:D007000,hypodermyiasis,DOID:12926,, +BMGC_DS01215,BMG_DS001546,,UMLS ID:C0020608,,,,,tooth agenesis,MONDO:0005486,,,,,, +BMGC_DS01216,BMG_DS001547,Hypogalactia,UMLS ID:C0020610,Decreased lactation | Hypogalactia | Hypolactation | Insufficient lactation | Poor lactation | Inadequate lactation | Decreased lactation (finding),SNOMEDCT ID:199004,Hypogalactia,ICD11 ID:JB46.4,,,Lactation Disorders,MeSH ID:D007775,,,ICD10 ID:O92.4, +BMGC_DS01217,BMG_DS001548,Hypoglycemia,UMLS ID:C0020615,Hypoglycaemia | Hypoglycemia | Hypoglycemia (disorder) | Hypoglycaemia | Hypoglycemia | Hypoglycaemia (disorder) | Hypoglycemia | Hypoglycaemia | Hypoglycemia (disorder),SNOMEDCT ID:302866003 | SNOMEDCT ID:154691006 | SNOMEDCT ID:66694000,,,hypoglycemia,MONDO:0004946,Hypoglycemia,MeSH ID:D007003,hypoglycemia,DOID:9993,,OMIM ID:MTHU000371 +BMGC_DS01218,BMG_DS001549,Hypoglycemic coma,UMLS ID:C0020617,Hypoglycaemic coma | Hypoglycemic coma | Coma due to hypoglycaemia | Coma due to hypoglycemia (disorder) | Coma due to hypoglycemia | Insulin coma | Coma - insulin | Hypoglycemic coma (& [insulin]) | Hypoglycaemic coma (& [insulin]) | Hypoglycaemic coma | Hypoglycemic coma | Hypoglycaemic coma (& [insulin]) (disorder) | Hypoglycemic coma | Hypoglycaemic coma | Hypoglycemic coma (disorder) | Coma: [hypoglycemic] or [insulin] | Insulin coma | Hypoglycemic coma | Hypoglycaemic coma | Coma: [hypoglycaemic] or [insulin] | Coma: [hypoglycaemic] or [insulin] (disorder) | Insulin coma | Coma - insulin | Hypoglycaemic coma | Hypoglycemic coma | Hypoglycaemic coma (& [insulin]) | Hypoglycemic coma (& [insulin]) | Hypoglycaemic coma (& [insulin]) (disorder),SNOMEDCT ID:267384006 | SNOMEDCT ID:154692004 | SNOMEDCT ID:71898001 | SNOMEDCT ID:190428000 | SNOMEDCT ID:267476006,,,,,,,hypoglycemic coma,DOID:1607,, +BMGC_DS01219,BMG_DS001550,Hypogonadism,UMLS ID:C0020619,Hypogonadism | Hypogonadism (disorder),SNOMEDCT ID:48130008,,,hypogonadism,MONDO:0002146,Hypogonadism,MeSH ID:D007006,hypogonadism,DOID:1924,,OMIM ID:MTHU000132 +BMGC_DS01220,BMG_DS001551,Hypohidrosis,UMLS ID:C0020620,Hypohidrosis | Oligohidrosis | Hypohidrosis (disorder) | Hypohydrosis | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) | Oligohidrosis | Hypohidrosis | Anhidrosis | (Anhidrosis) or (hypohidrosis) or (oligohidrosis) (disorder),SNOMEDCT ID:45004005 | SNOMEDCT ID:201189007,"Hypohidrosis, unspecified",ICD11 ID:EE01.Z,obsolete hypohidrosis,MONDO:0006560,Hypohidrosis,MeSH ID:D007007,hypohidrosis,DOID:11155,ICD10 ID:L74.4,OMIM ID:MTHU036385 +BMGC_DS01221,BMG_DS001552,,UMLS ID:C0020623,,,,,hypolipoproteinemia,MONDO:0001822,,,hypolipoproteinemia,DOID:1387,, +BMGC_DS01222,BMG_DS001553,Hypomenorrhea,UMLS ID:C0020624,(Hypomenorrhea) or (scanty periods) | Scanty periods | Hypomenorrhoea | (Hypomenorrhoea) or (scanty periods) | Hypomenorrhea | (Hypomenorrhoea) or (scanty periods) (disorder) | Hypomenorrhea | Hypomenorrhoea | Hypomenorrhea (finding) | Spotting only at periods | Scanty period | Light menstrual period | Scanty periods | Scanty periods | (Hypomenorrhea) or (scanty periods) | (Hypomenorrhoea) or (scanty periods) | Hypomenorrhea | Hypomenorrhoea | (Hypomenorrhoea) or (scanty periods) (finding),SNOMEDCT ID:266669004 | SNOMEDCT ID:64206003 | SNOMEDCT ID:156041006,,,,,Menstruation Disturbances,MeSH ID:D008599,,,, +BMGC_DS01223,BMG_DS001554,Hyponatremia,UMLS ID:C0020625,(Sodium deficiency) or (hyponatremia) | Sodium deficiency | Hyponatraemia | Hyponatremia | (Sodium deficiency) or (hyponatraemia) | (Sodium deficiency) or (hyponatraemia) (disorder) | (Sodium deficiency) or (hyponatremia) | Sodium deficiency | (Sodium deficiency) or (hyponatraemia) | Hyponatraemia | Hyponatremia | (Sodium deficiency) or (hyponatraemia) (disorder) | Hyponatremia | Hyponatraemia | Hyponatremia (finding) | Hyposmolality &/or hyponatraemia | Hypo-osmolality and or hyponatremia | Hyponatremia | Hyposmolality and or hyponatremia | Hyposmolality and or hyponatraemia | Hyponatraemia | Hypo-osmolality and or hyponatraemia | Hyposmolality &/or hyponatremia | Hyposmolality &/or hyponatraemia (disorder),SNOMEDCT ID:267507003 | SNOMEDCT ID:154756008 | SNOMEDCT ID:89627008 | SNOMEDCT ID:190880004,,,,,Hyponatremia,MeSH ID:D007010,,,,OMIM ID:MTHU000164 +BMGC_DS01224,BMG_DS001555,Hypoparathyroidism,UMLS ID:C0020626,(Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) | Pseudo-hypoparathyroidism | Hypoparathyroidism | Tetany | (Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) (disorder) | Hypoparathyroidism | Pseudo-hypoparathyroidism | Tetany | (Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) | (Hypoparathyroidism) or (pseudo-hypoparathyroidism) or (tetany) (disorder) | Hypoparathyroidism | Deficiency of parathyroid hormone | Deficiency of parathyrin | Hypoparathyroidism (disorder) | Deficiency of PTH (parathyroid hormone),SNOMEDCT ID:154697005 | SNOMEDCT ID:267479004 | SNOMEDCT ID:36976004,,,hypoparathyroidism,MONDO:0001220,Hypoparathyroidism,MeSH ID:D007011,hypoparathyroidism,DOID:11199,ICD10 ID:E20,OMIM ID:MTHU006713 +BMGC_DS01225,BMG_DS001557,Hypophosphatasia,UMLS ID:C0020630,Hypophosphatasia | Hypophosphatasia (disorder) | Hypophosphatasia | Alkaline phosphatase deficiency | Hypophosphatasia (disorder),SNOMEDCT ID:70848009 | SNOMEDCT ID:190859005,,,hypophosphatasia,MONDO:0018570,Hypophosphatasia,MeSH ID:D007014,hypophosphatasia,DOID:14213,ICD10 ID:E83.39, +BMGC_DS01226,BMG_DS001559,Hypopituitarism,UMLS ID:C0020635,Hypopituitarism | Deficient secretion of one OR more pituitary hormones | Pituitary insufficiency | Pituitary deficiency | Pituitary failure | Hypopituitarism (disorder) | Pituitary hypofunction,SNOMEDCT ID:74728003,Hypopituitarism,ICD11 ID:5A61.0,hypopituitarism,MONDO:0005152,Hypopituitarism,MeSH ID:D007018,hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IB | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type III | hypopituitarism | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090072;DOID:0090087;DOID:0060875;DOID:0090073;DOID:0090076;DOID:0090092;DOID:0060873;DOID:0090080;DOID:0090075;DOID:0090077;DOID:0090071;DOID:0090082;DOID:0090084;DOID:0090074;DOID:9406;DOID:0090093;DOID:0060874;DOID:0090078;DOID:0090070;DOID:0090085;DOID:0090094;DOID:0090086;DOID:0090083;DOID:0090081;DOID:0090079;DOID:0090089;DOID:0090090,ICD10 ID:E23.0,OMIM ID:MTHU036880 +BMGC_DS01227,BMG_DS001560,Hypoproteinemia,UMLS ID:C0020639,(Plasma protein metabolism disorder: & [hyperproteinemia] or [hypoproteinemia]) or (Waldenstrom's macroglobulinemia) | Plasma protein metab. disorder | Waldenstrom's macroglob'naemia | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) | Hyperproteinemia | Waldenstrom's macroglobulinemia | Hypoproteinemia | Hyperproteinaemia | Hypoproteinaemia | Waldenstrom's macroglobulinaemia | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) (disorder) | (Plasma protein metabolism disorder: & [hyperproteinemia] or [hypoproteinemia]) or (Waldenstrom's macroglobulinemia) | Plasma protein metab. disorder | Waldenstrom's macroglob'naemia | Hypoproteinaemia | Hyperproteinaemia | Waldenstrom's macroglobulinaemia | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) | Hyperproteinemia | Hypoproteinemia | Waldenstrom's macroglobulinemia | (Plasma protein metabolism disorder: & [hyperproteinaemia] or [hypoproteinaemia]) or (Waldenstrom's macroglobulinaemia) (disorder) | Hypoproteinemia | Hypoproteinaemia | Hypoproteinemia (disorder),SNOMEDCT ID:154750002 | SNOMEDCT ID:267503004 | SNOMEDCT ID:8900005,,,,,Hypoproteinemia,MeSH ID:D007019,,,,OMIM ID:MTHU001376 +BMGC_DS01228,BMG_DS001561,Hypopyon,UMLS ID:C0020641,Hypopyon | Hypopyon (disorder) | Pus in anterior chamber,SNOMEDCT ID:87807004,,,hypopyon,MONDO:0001036,,,hypopyon,DOID:10443,ICD10 ID:H20.05, +BMGC_DS01229,BMG_DS001562,,UMLS ID:C0020649,,,,,hypotensive disorder,MONDO:0005468,,,,,, +BMGC_DS01230,BMG_DS001563,"Hypotension, Orthostatic",UMLS ID:C0020651,,,,,orthostatic hypotension,MONDO:0005469,"Hypotension, Orthostatic",MeSH ID:D007024,,,, +BMGC_DS01231,BMG_DS001564,Hypothalamic Diseases,UMLS ID:C0020655,,,,,hypothalamic disorder,MONDO:0002150,Hypothalamic Diseases,MeSH ID:D007027,hypothalamic disease,DOID:1931,, +BMGC_DS01232,BMG_DS001565,,UMLS ID:C0020659,,,,,hypothalamic neoplasm,MONDO:0006799,,,hypothalamic neoplasm,DOID:3644,, +BMGC_DS01233,BMG_DS001566,Hypothyroidism,UMLS ID:C0020676,Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | Cretinism | Hypothyroidism-congen.+ acqui. | Hypothyroidism - congenital and acquired | Hypothyroidism | Myxoedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | Myxedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Hypothyroidism | Acquired hypothyroidism | Thyroid deficiency | Hypothyroidism: &/or (acquired) | Myxedema | Myxoedema | Hypothyroidism: &/or (acquired) (disorder) | Cretinism | Hypothyroidism | Hypothyroidism - congenital and acquired | Hypothyroidism-congen.+ acqui. | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | Myxedema | Myxoedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Hypothyroidism | Hypothyroidism (disorder) | Hypothyroidism | Hypothyroid | Hypothyroidism (disorder),SNOMEDCT ID:267465007 | SNOMEDCT ID:190274003 | SNOMEDCT ID:154660000 | SNOMEDCT ID:237572004 | SNOMEDCT ID:40930008,,,hypothyroidism,MONDO:0005420,Hypothyroidism,MeSH ID:D007037,hypothyroidism,DOID:1459,,OMIM ID:MTHU002670 +BMGC_DS01234,BMG_DS001567,Hypotrichosis,UMLS ID:C0020678,Hypotrichosis | Hypotrichosis (disorder),SNOMEDCT ID:53602002,,,hypotrichosis,MONDO:0003037,Hypotrichosis,MeSH ID:D007039,hypotrichosis,DOID:4535,,OMIM ID:MTHU002744 +BMGC_DS01235,BMG_DS001569,Type II Mucolipidosis,UMLS ID:C0020725,,,,,,,Mucolipidoses,MeSH ID:D009081,,,, +BMGC_DS01236,BMG_DS001570,Iatrogenic Disease,UMLS ID:C0020732,,,,,iatrogenic disease,MONDO:0043543,Iatrogenic Disease,MeSH ID:D007049,,,, +BMGC_DS01237,BMG_DS001571,Ichthyoses,UMLS ID:C0020757,,,,,ichthyosis,MONDO:0019269,Ichthyosis,MeSH ID:D007057,ichthyosis,DOID:1697,, +BMGC_DS01238,BMG_DS001572,Congenital ichthyosis,UMLS ID:C0020758,Congenital ichthyosis of skin | Ichthyosis congenita | Congenital ichthyosis | Fish scale disease | Fish skin | Congenital ichthyosis of skin (disorder),SNOMEDCT ID:13059002,,,,,,,,,ICD10 ID:Q80,OMIM ID:MTHU055329 +BMGC_DS01239,BMG_DS001573,Idiopathic Hypercatabolic Hypoproteinemia,UMLS ID:C0020800,,,,,,,Protein-Losing Enteropathies,MeSH ID:D011504,,,, +BMGC_DS01240,BMG_DS001574,Idiopathic pulmonary hemosiderosis,UMLS ID:C0020807,Idiopathic pulmonary hemosiderosis | Brown induration of lung | Pulmonary hemosiderosis | Pulmonary haemosiderosis | Idiopathic pulmonary haemosiderosis | Idiopathic pulmonary hemosiderosis (disorder) | IPH - Idiopathic pulmonary haemosiderosis | IPH - Idiopathic pulmonary hemosiderosis | Idiopathic pulmonary haemosiderosis | Idiopathic pulmonary hemosiderosis | Idiopathic pulmonary haemosiderosis (disorder),SNOMEDCT ID:40527005 | SNOMEDCT ID:190848001,,,pulmonary hemosiderosis,MONDO:0008346,,,pulmonary hemosiderosis,DOID:12118,ICD10 ID:J84.03,OMIM ID:178550 +BMGC_DS01241,BMG_DS001576,,UMLS ID:C0020876,,,,,ileal neoplasm,MONDO:0006801,,,benign ileal neoplasm,DOID:10156,, +BMGC_DS01242,BMG_DS001577,Ileitis,UMLS ID:C0020877,Ileitis | Ileitis (disorder),SNOMEDCT ID:52457000,,,,,Ileitis,MeSH ID:D007079,ileitis,DOID:0060189,,OMIM ID:MTHU063170 +BMGC_DS01243,BMG_DS001578,Immune Complex Diseases,UMLS ID:C0020951,,,,,type III hypersensitivity disease,MONDO:0007004,Immune Complex Diseases,MeSH ID:D007105,hypersensitivity reaction type III disease,DOID:1557,, +BMGC_DS01244,BMG_DS001579,,UMLS ID:C0020981,,,,,angioimmunoblastic T-cell lymphoma,MONDO:0004977,,,angioimmunoblastic T-cell lymphoma,DOID:0111147,, +BMGC_DS01245,BMG_DS001580,Immunologic Deficiency Syndromes,UMLS ID:C0021051,,,,,immunodeficiency disease,MONDO:0021094,Immunologic Deficiency Syndromes,MeSH ID:D007153,primary immunodeficiency disease,DOID:612,, +BMGC_DS01246,BMG_DS001581,Immune System Diseases,UMLS ID:C0021053,,,,,immune system disorder,MONDO:0005046,Immune System Diseases,MeSH ID:D007154,,,, +BMGC_DS01247,BMG_DS001582,,UMLS ID:C0021070,,,,,immunoproliferative disorder,MONDO:0021334,,,hypersensitivity reaction type IV disease,DOID:2916,, +BMGC_DS01248,BMG_DS001584,Impetigo,UMLS ID:C0021099,(Impetigo) or (pemphigus neonatorum) | Impetigo | Pemphigus neonatorum | (Impetigo) or (pemphigus neonatorum) (disorder) | Impetigo | Pemphigus neonatorum | (Impetigo) or (pemphigus neonatorum) | (Impetigo) or (pemphigus neonatorum) (disorder) | Impetigo | Impetigo contagiosa | Impetigo (disorder),SNOMEDCT ID:156319000 | SNOMEDCT ID:267836006 | SNOMEDCT ID:48277006,"Impetigo, unspecified",ICD11 ID:1B72.Z,impetigo,MONDO:0004592,Impetigo,MeSH ID:D007169,impetigo,DOID:8504,ICD10 ID:L01.0 | ICD10 ID:L01,OMIM ID:MTHU037496 +BMGC_DS01249,BMG_DS001586,,UMLS ID:C0021122,,,,,impulse control disorder,MONDO:0001162,,,impulse control disorder,DOID:10937,, +BMGC_DS01250,BMG_DS001587,Inappropriate ADH Syndrome,UMLS ID:C0021141,,,,,inappropriate ADH syndrome,MONDO:0006802,Inappropriate ADH Syndrome,MeSH ID:D007177,inappropriate ADH syndrome,DOID:3401,, +BMGC_DS01251,BMG_DS001589,,UMLS ID:C0021171,,,,,incontinentia pigmenti,MONDO:0010631,,,Bloch-Sulzberger syndrome,DOID:12305,,OMIM ID:308300 +BMGC_DS01252,BMG_DS001590,Indeterminate leprosy,UMLS ID:C0021192,Indeterminate leprosy | Group I leprosy | Indeterminate leprosy (disorder) | Type I leprosy,SNOMEDCT ID:14386001,Paucibacillary leprosy,ICD11 ID:1B20.0,indeterminate leprosy,MONDO:0001391,,,indeterminate leprosy,DOID:11851,ICD10 ID:A30.0, +BMGC_DS01253,BMG_DS001591,,UMLS ID:C0021193,,,,,,,,,pseudohermaphroditism,DOID:3765,, +BMGC_DS01254,BMG_DS001592,Infant Nutrition Disorders,UMLS ID:C0021280,,,,,,,Infant Nutrition Disorders,MeSH ID:D007228,,,, +BMGC_DS01255,BMG_DS001593,Neonatal disorder,UMLS ID:C0021290,Neonatal disease | Neonatal disorder | Neonatal disorder (disorder),SNOMEDCT ID:22925008,,,,,,,,,, +BMGC_DS01256,BMG_DS001594,"Infant, Premature, Diseases",UMLS ID:C0021295,,,,,,,"Infant, Premature, Diseases",MeSH ID:D007235,,,, +BMGC_DS01257,BMG_DS001595,Infection of kidney,UMLS ID:C0021313,Infection of kidney (& [pyelonephritis &/or pyelitis]) | Renal infection | Kidney infection | Infection of kidney | Pyelonephritis/pyelitis | Infection - kidney | Infection of kidney (& [pyelonephritis &/or pyelitis]) (disorder),SNOMEDCT ID:266618004,,,renal infectious disease,MONDO:0004369,,,renal infectious disease,DOID:782,, +BMGC_DS01258,BMG_DS001597,Infectious enteritis,UMLS ID:C0021342,Infectious enteritis | Infective enteritis | Infectious enteritis of intestine | Infectious inflammation of intestine (disorder) | Infectious inflammation of intestine,SNOMEDCT ID:55184003,,,,,,,,,,OMIM ID:MTHU074762 +BMGC_DS01259,BMG_DS001598,Infectious Mononucleosis,UMLS ID:C0021345,,,,,infectious mononucleosis,MONDO:0005810,Infectious Mononucleosis,MeSH ID:D007244,infectious mononucleosis,DOID:8568,, +BMGC_DS01260,BMG_DS001599,Infective otitis externa,UMLS ID:C0021355,Infective otitis externa | Infective OE | Infective otitis externa (disorder) | Infective otitis externa | Infective otitis externa (disorder) | Infective OE (otitis externa) | Cellulitis - ear | Swimmers ear | Infective otitis externa | (Infective otitis externa (& [cellulitis ear])) or (swimmers ear) | (Infective otitis externa (& [cellulitis ear])) or (swimmers ear) (disorder),SNOMEDCT ID:194198006 | SNOMEDCT ID:86981007 | SNOMEDCT ID:267752002,,,,,,,otitis externa,DOID:9463,, +BMGC_DS01261,BMG_DS001600,,UMLS ID:C0021359,,,,,infertility disorder,MONDO:0005047,,,infertility,DOID:5223,, +BMGC_DS01262,BMG_DS001601,Infertility due to extratesticular cause,UMLS ID:C0021360,Infertility due to extratesticular cause | Infertility due to extratesticular cause (disorder),SNOMEDCT ID:84245004 | SNOMEDCT ID:198011008,,,infertility due to extratesticular cause,MONDO:0001877,,,infertility due to extratesticular cause,DOID:14096,, +BMGC_DS01263,BMG_DS001602,,UMLS ID:C0021361,,,,,female infertility,MONDO:0021124,,,,,, +BMGC_DS01264,BMG_DS001603,Male infertility,UMLS ID:C0021364,Male infertility | Male infertility (disorder),SNOMEDCT ID:155924001 | SNOMEDCT ID:2904007,,,male infertility,MONDO:0005372,,,male infertility,DOID:12336,ICD10 ID:N46,OMIM ID:MTHU071905 +BMGC_DS01265,BMG_DS001604,Inflammatory Bowel Diseases,UMLS ID:C0021390,,,,,inflammatory bowel disease,MONDO:0005265,Inflammatory Bowel Diseases,MeSH ID:D015212,inflammatory bowel disease,DOID:0050589,, +BMGC_DS01266,BMG_DS001605,,UMLS ID:C0021396,,,,,,,,,inflammatory spondylopathy,DOID:12105,, +BMGC_DS01267,BMG_DS001606,Influenza,UMLS ID:C0021400,Influenza | Flu | Grippe | Influenza (disorder) | Influenza | Influenza (disorder),SNOMEDCT ID:6142004 | SNOMEDCT ID:155559006,,,influenza,MONDO:0005812,"Influenza, Human",MeSH ID:D007251,influenza,DOID:8469,, +BMGC_DS01268,BMG_DS001608,,UMLS ID:C0021432,,,,,infratentorial neoplasm,MONDO:0037736,,,infratentorial cancer,DOID:4706,, +BMGC_DS01269,BMG_DS001609,Disorders of Environmental Origin,UMLS ID:C0021508,,,,,,,Disorders of Environmental Origin,MeSH ID:D007280,,,, +BMGC_DS01270,BMG_DS001611,Sleep Initiation and Maintenance Disorders,UMLS ID:C0021603,,,,,"sleep disorder, initiating and maintaining sleep",MONDO:0024376,Sleep Initiation and Maintenance Disorders,MeSH ID:D007319,,,, +BMGC_DS01271,BMG_DS001613,,UMLS ID:C0021670,,,,,pancreatic insulinoma,MONDO:0024677,,,insulinoma,DOID:3892,, +BMGC_DS01272,BMG_DS001614,Intermittent Claudication,UMLS ID:C0021775,,,,,intermittent vascular claudication,MONDO:0005295,Intermittent Claudication,MeSH ID:D007383,intermittent claudication,DOID:3669,, +BMGC_DS01273,BMG_DS001615,,UMLS ID:C0021776,,,,,intermittent explosive disorder,MONDO:0001521,,,intermittent explosive disorder,DOID:12401,, +BMGC_DS01274,BMG_DS001617,Intervertebral Disk Displacement,UMLS ID:C0021818,,,,,,,Intervertebral Disc Displacement,MeSH ID:D007405,,,, +BMGC_DS01275,BMG_DS001619,Intestinal Atresia,UMLS ID:C0021828,,,,,intestinal atresia,MONDO:0001045,Intestinal Atresia,MeSH ID:D007409,intestinal atresia,DOID:10486,, +BMGC_DS01276,BMG_DS001620,,UMLS ID:C0021830,,,,,,,,,intestinal disaccharidase deficiency,DOID:9868,, +BMGC_DS01277,BMG_DS001621,Intestinal Diseases,UMLS ID:C0021831,,,,,intestinal disorder,MONDO:0005020,Intestinal Diseases,MeSH ID:D007410,intestinal disease,DOID:5295,, +BMGC_DS01278,BMG_DS001622,"Intestinal Diseases, Parasitic",UMLS ID:C0021832,,,,,parasitic intestinal disorder,MONDO:0024270,"Intestinal Diseases, Parasitic",MeSH ID:D007411,,,, +BMGC_DS01279,BMG_DS001624,,UMLS ID:C0021841,,,,,intestinal neoplasm,MONDO:0021118,,,intestinal benign neoplasm,DOID:4610,, +BMGC_DS01280,BMG_DS001625,Intestinal Obstruction,UMLS ID:C0021843,,,,,intestinal obstruction,MONDO:0004565,Intestinal Obstruction,MeSH ID:D007415,intestinal obstruction,DOID:8437,, +BMGC_DS01281,BMG_DS001626,Intestinal Perforation,UMLS ID:C0021845,,,,,intestinal perforation,MONDO:0006807,Intestinal Perforation,MeSH ID:D007416,intestinal perforation,DOID:2074,, +BMGC_DS01282,BMG_DS001627,,UMLS ID:C0021846,,,,,intestinal polyp,MONDO:0005288,,,,,, +BMGC_DS01283,BMG_DS001628,Intestinal Pseudo-Obstruction,UMLS ID:C0021847,,,,,intestinal pseudo-obstruction,MONDO:0002803,Intestinal Pseudo-Obstruction,MeSH ID:D007418,intestinal pseudo-obstruction,DOID:0080072,, +BMGC_DS01284,BMG_DS001630,Intracranial abscess,UMLS ID:C0021874,Intracranial abscess | Intracranial abscess (disorder) | Brain abscess | Intracranial abscess | Intracranial abscess(& [brain]) | Intracranial abscess(& [brain]) (disorder),SNOMEDCT ID:27614006 | SNOMEDCT ID:192738001,,,intracranial abscess,MONDO:0000939,,,intracranial abscess,DOID:10095,, +BMGC_DS01285,BMG_DS001632,Intussusception,UMLS ID:C0021933,Intussusception | Intussusception (disorder) | Intussusception | Introsusception | Intussusception (morphologic abnormality),SNOMEDCT ID:155772009 | SNOMEDCT ID:35327006,"Diseases of the digestive system, unspecified",ICD11 ID:DE2Z,intussusception,MONDO:0007835,Intussusception,MeSH ID:D007443,intussusception,DOID:8446,ICD10 ID:K56.1,OMIM ID:MTHU016100 | OMIM ID:147710 +BMGC_DS01286,BMG_DS001637,Iridocyclitis,UMLS ID:C0022073,Iridocyclitis | Iridocyclitis (disorder) | Disorders of iris &/or ciliary body (& [iridocyclitis]) | Ciliary body disorders | Iridocyclitis | Disorders of iris and ciliary body | Disorders of iris &/or ciliary body (& [iridocyclitis]) (disorder),SNOMEDCT ID:77971008 | SNOMEDCT ID:193481009,,,iridocyclitis,MONDO:0004773,Iridocyclitis,MeSH ID:D015863,,,ICD10 ID:H20,OMIM ID:MTHU037137 +BMGC_DS01287,BMG_DS001638,Iris Diseases,UMLS ID:C0022078,,,,,iris disorder,MONDO:0002289,Iris Diseases,MeSH ID:D007499,iris disease,DOID:240,, +BMGC_DS01288,BMG_DS001639,,UMLS ID:C0022079,,,,,iris neoplasm,MONDO:0021224,,,iris cancer,DOID:3478,, +BMGC_DS01289,BMG_DS001640,Iritis,UMLS ID:C0022081,Iritis | Iritis (disorder),SNOMEDCT ID:65074000,,,iritis,MONDO:0006814,Iritis,MeSH ID:D007500,iritis,DOID:1406,,OMIM ID:MTHU026370 +BMGC_DS01290,BMG_DS001641,Irritable Bowel Syndrome,UMLS ID:C0022104,,,,,irritable bowel syndrome,MONDO:0005052,Irritable Bowel Syndrome,MeSH ID:D043183,irritable bowel syndrome,DOID:9778,, +BMGC_DS01291,BMG_DS001642,,UMLS ID:C0022116,,,,,ischemic disease,MONDO:0005053,,,ischemia,DOID:326,, +BMGC_DS01292,BMG_DS001644,,UMLS ID:C0022134,,,,,,,,,insulinoma,DOID:3892,, +BMGC_DS01293,BMG_DS001645,,UMLS ID:C0022283,,,,,Ito hypomelanosis,MONDO:0010302,,,hypomelanosis of Ito,DOID:3156,,OMIM ID:300337 +BMGC_DS01294,BMG_DS001646,Jacksonian Seizure,UMLS ID:C0022333,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS01295,BMG_DS001647,Creutzfeldt-Jakob disease,UMLS ID:C0022336,Creutzfeldt-Jakob disease | Creutzfeldt-Jakob disease (disorder) | Jakob-Creutzfeldt disease | Creutzfeldt-Jakob disease | Subacute spongiform encephalopathy | Jakob-Creutzfeldt disease (disorder) | CJD - Creutzfeldt-Jakob disease | JCD - Jakob-Creutzfeldt disease | Transmissible virus dementia,SNOMEDCT ID:155061007 | SNOMEDCT ID:792004,Genetic CreutzfeldtJakob disease,ICD11 ID:8E02.0,Creutzfeldt Jacob disease,MONDO:0005357,,,Creutzfeldt-Jakob disease,DOID:11949,ICD10 ID:A81.0, +BMGC_DS01296,BMG_DS001648,Late-Infantile Neuronal Ceroid Lipofuscinosis,UMLS ID:C0022340,,,,,late infantile neuronal ceroid lipofuscinosis,MONDO:0015674,Neuronal Ceroid-Lipofuscinoses,MeSH ID:D009472,,,, +BMGC_DS01297,BMG_DS001649,"Jaundice, Chronic Idiopathic",UMLS ID:C0022350,,,,,Dubin-Johnson syndrome,MONDO:0009380,"Jaundice, Chronic Idiopathic",MeSH ID:D007566,Dubin-Johnson syndrome,DOID:12308,,OMIM ID:237500 +BMGC_DS01298,BMG_DS001650,,UMLS ID:C0022353,,,,,,,,,neonatal jaundice,DOID:2383,, +BMGC_DS01299,BMG_DS001651,"Jaundice, Obstructive",UMLS ID:C0022354,,,,,obstructive jaundice,MONDO:0006874,"Jaundice, Obstructive",MeSH ID:D041781,obstructive jaundice,DOID:13603,, +BMGC_DS01300,BMG_DS001652,Jaw Diseases,UMLS ID:C0022362,,,,,,,Jaw Diseases,MeSH ID:D007571,,,, +BMGC_DS01301,BMG_DS001653,,UMLS ID:C0022364,,,,,neoplasm of jaw,MONDO:0021580,,,jaw cancer,DOID:1862,, +BMGC_DS01302,BMG_DS001656,Jejunal Diseases,UMLS ID:C0022373,,,,,,,Jejunal Diseases,MeSH ID:D007579,,,, +BMGC_DS01303,BMG_DS001657,,UMLS ID:C0022374,,,,,jejunal neoplasm,MONDO:0002564,,,jejunal neoplasm,DOID:3218,, +BMGC_DS01304,BMG_DS001658,Jervell-Lange Nielsen Syndrome,UMLS ID:C0022387,,,,,Jervell and Lange-Nielsen syndrome,MONDO:0002441,Jervell-Lange Nielsen Syndrome,MeSH ID:D029593,Jervell-Lange Nielsen syndrome,DOID:2842,, +BMGC_DS01305,BMG_DS001659,Arthropathy,UMLS ID:C0022408,Arthropathy (disorder) | Arthropathy | Arthrosis | Joint disorder | Joint disease | Disorder of joint | (Arthritis/arthrosis) or (arthropathy) or (joint disorders) | Arthritis/arthrosis | Joint disorders | Arthropathy | (Arthritis/arthrosis) or (arthropathy) or (joint disorders) (disorder) | Arthropathy | Disorder of joint | Joint disease | Arthrosis | Joint derangement | Joint disorder | Arthropathy (disorder),SNOMEDCT ID:399269003 | SNOMEDCT ID:268051001 | SNOMEDCT ID:8316001,,,arthropathy,MONDO:0006816,Joint Diseases,MeSH ID:D007592,arthropathy,DOID:381,,OMIM ID:MTHU012515 +BMGC_DS01306,BMG_DS001661,Juvenile osteochondrosis of hip AND/OR pelvis,UMLS ID:C0022441,Juvenile osteochondrosis of hip AND/OR pelvis (disorder) | Juvenile osteochondritis of hip AND/OR pelvis,SNOMEDCT ID:15739006,,,,,,,Legg-Calve-Perthes disease,DOID:14415,, +BMGC_DS01307,BMG_DS001663,Kartagener Syndrome,UMLS ID:C0022521,,,,,,,Kartagener Syndrome,MeSH ID:D007619,Kartagener syndrome,DOID:0050144,, +BMGC_DS01308,BMG_DS001664,Kearns-Sayre syndrome,UMLS ID:C0022541,Kearns-Sayre syndrome | Kearns-Sayre syndrome (disorder) | Kearns-Sayre mitochondrial cytopathy | Mitochondrial ocular myopathy | KSS - Kearns-Sayre syndrome | Oculocraniosomatic syndrome,SNOMEDCT ID:25792000,,,Kearns-Sayre syndrome,MONDO:0010787,,,Kearns-Sayre syndrome,DOID:12934,ICD10 ID:H49.81,OMIM ID:530000 +BMGC_DS01309,BMG_DS001665,,UMLS ID:C0022548,,,,,keloid,MONDO:0005348,,,,,, +BMGC_DS01310,BMG_DS001666,Keratitis,UMLS ID:C0022568,Keratitis | Keratitis (disorder) | Keratitis &/or keratoconjunctivitis | Keratitis | Keratoconjunctivitis | Keratitis &/or keratoconjunctivitis (disorder),SNOMEDCT ID:5888003 | SNOMEDCT ID:193757003 | SNOMEDCT ID:155151002,,,keratitis,MONDO:0003085,Keratitis,MeSH ID:D007634,keratitis,DOID:4677,ICD10 ID:H16,OMIM ID:MTHU036935 +BMGC_DS01311,BMG_DS001667,"Keratitis, Dendritic",UMLS ID:C0022570,,,,,,,"Keratitis, Dendritic",MeSH ID:D007635,,,, +BMGC_DS01312,BMG_DS001668,,UMLS ID:C0022572,,,,,keratoacanthoma,MONDO:0002527,,,keratoacanthoma,DOID:3149,, +BMGC_DS01313,BMG_DS001669,Keratoconjunctivitis,UMLS ID:C0022573,Keratoconjunctivitis | Superficial keratitis with conjunctivitis | Keratoconjunctivitis (disorder) | Keratitis &/or keratoconjunctivitis | Keratitis | Keratoconjunctivitis | Keratitis &/or keratoconjunctivitis (disorder) | Keratoconjunctivitis | Keratoconjunctivitis (disorder),SNOMEDCT ID:88151007 | SNOMEDCT ID:193757003 | SNOMEDCT ID:155154005,Other specified disorders of the cornea,ICD11 ID:9A7Y,keratoconjunctivitis,MONDO:0004768,Keratoconjunctivitis,MeSH ID:D007637,keratoconjunctivitis,DOID:9368,ICD10 ID:H16.2,OMIM ID:MTHU036934 +BMGC_DS01314,BMG_DS001670,Keratoconjunctivitis Sicca,UMLS ID:C0022575,,,,,xerophthalmia,MONDO:0000948,Keratoconjunctivitis Sicca,MeSH ID:D007638,keratoconjunctivitis sicca,DOID:12895,, +BMGC_DS01315,BMG_DS001672,"Keratoconjunctivitis, Vernal",UMLS ID:C0022577,,,,,vernal keratoconjunctivitis,MONDO:0019085,"Conjunctivitis, Allergic",MeSH ID:D003233,,,, +BMGC_DS01316,BMG_DS001673,Keratoconus,UMLS ID:C0022578,Keratoconus | Keratoconus (disorder) | Cornea conical | (Keratoconus) or (corneal disorders NOS) | Corneal disorders NOS | Keratoconus | Corneal disorder NOS | (Keratoconus) or (corneal disorders NOS) (disorder) | Corneal disorder NOS | Keratoconus | Corneal disorders NOS | (Keratoconus) or (corneal disorders NOS) | (Keratoconus) or (corneal disorders NOS) (disorder),SNOMEDCT ID:65636009 | SNOMEDCT ID:155160005 | SNOMEDCT ID:267733008,Keratoconus,ICD11 ID:9A78.50,keratoconus,MONDO:0015486,Keratoconus,MeSH ID:D007640,keratoconus,DOID:10126,ICD10 ID:H18.6,OMIM ID:MTHU036426 +BMGC_DS01317,BMG_DS001675,,UMLS ID:C0022581,,,,,acquired keratosis,MONDO:0006522,,,acquired hyperkeratosis,DOID:13072,, +BMGC_DS01318,BMG_DS001676,"Keratoderma, Palmoplantar, Diffuse",UMLS ID:C0022584,,,,,diffuse palmoplantar keratoderma,MONDO:0017666,"Keratoderma, Palmoplantar, Diffuse",MeSH ID:D015776,,,, +BMGC_DS01319,BMG_DS001677,Keratosis,UMLS ID:C0022593,Keratosis | Keratosis (disorder) | Hyperkeratosis,SNOMEDCT ID:254666005,,,keratosis,MONDO:0006566,Keratosis,MeSH ID:D007642,keratosis,DOID:161,, +BMGC_DS01320,BMG_DS001678,Keratosis Blennorrhagica,UMLS ID:C0022594,,,,,,,Keratosis,MeSH ID:D007642,,,, +BMGC_DS01321,BMG_DS001679,Keratosis Follicularis,UMLS ID:C0022595,,,,,Darier disease,MONDO:0007417,Darier Disease,MeSH ID:D007644,keratosis follicularis,DOID:2734,,OMIM ID:124200 +BMGC_DS01322,BMG_DS001680,,UMLS ID:C0022596,,,,,palmoplantar keratosis,MONDO:0006590,,,palmoplantar keratosis,DOID:3390,, +BMGC_DS01323,BMG_DS001681,,UMLS ID:C0022602,,,,,actinic keratosis,MONDO:0005173,,,actinic keratosis,DOID:8866,, +BMGC_DS01324,BMG_DS001682,,UMLS ID:C0022603,,,,,seborrheic keratosis,MONDO:0008420,,,seborrheic keratosis,DOID:6498,,OMIM ID:182000 +BMGC_DS01325,BMG_DS001683,Kernicterus,UMLS ID:C0022610,Kernicterus (& [due to isoimmunization]) | Kernicterus (& [due to isoimmunisation]) | Kernicterus due to isoimmunization | Kernicterus due to isoimmunisation | Kernicterus | Kernicterus - due to isoimm. | Kernicterus (& [due to isoimmunisation]) (disorder) | Kernicterus | Nuclear jaundice | Kernicterus (morphologic abnormality) | Kernicterus - due to isoimm. | Kernicterus | Kernicterus (& [due to isoimmunization]) | Kernicterus (& [due to isoimmunisation]) | Kernicterus due to isoimmunisation | Kernicterus due to isoimmunization | Kernicterus (& [due to isoimmunisation]) (disorder) | Kernicterus | Kernicterus (disorder),SNOMEDCT ID:268880009 | SNOMEDCT ID:74925009 | SNOMEDCT ID:157135006 | SNOMEDCT ID:230770008,,,bilirubin encephalopathy,MONDO:0018477,Kernicterus,MeSH ID:D007647,kernicterus,DOID:2382,ICD10 ID:P57,OMIM ID:MTHU037351 +BMGC_DS01326,BMG_DS001685,Kidney Cortex Necrosis,UMLS ID:C0022656,,,,,kidney cortex necrosis,MONDO:0006820,Kidney Cortex Necrosis,MeSH ID:D007673,kidney cortex necrosis,DOID:2973,, +BMGC_DS01327,BMG_DS001686,Kidney Diseases,UMLS ID:C0022658,,,,,kidney disorder,MONDO:0005240,Kidney Diseases,MeSH ID:D007674,kidney disease,DOID:557,, +BMGC_DS01328,BMG_DS001687,"Kidney Failure, Acute",UMLS ID:C0022660,,,,,,,Acute Kidney Injury,MeSH ID:D058186,acute kidney failure,DOID:3021,, +BMGC_DS01329,BMG_DS001688,"Kidney Failure, Chronic",UMLS ID:C0022661,,,,,chronic renal failure syndrome,MONDO:0024327,"Kidney Failure, Chronic",MeSH ID:D007676,chronic kidney disease,DOID:784,, +BMGC_DS01330,BMG_DS001689,,UMLS ID:C0022665,,,,,kidney neoplasm,MONDO:0021163,,,kidney cancer,DOID:263,, +BMGC_DS01331,BMG_DS001690,Kidney Papillary Necrosis,UMLS ID:C0022667,,,,,kidney papillary necrosis,MONDO:0006821,Kidney Papillary Necrosis,MeSH ID:D007681,kidney papillary necrosis,DOID:2981,, +BMGC_DS01332,BMG_DS001691,Acute Kidney Tubular Necrosis,UMLS ID:C0022672,,,,,acute kidney tubular necrosis,MONDO:0006637,"Kidney Tubular Necrosis, Acute",MeSH ID:D007683,acute kidney tubular necrosis,DOID:12556,, +BMGC_DS01333,BMG_DS001692,Cystic kidney,UMLS ID:C0022679,,,,,,,,,cystic kidney disease,DOID:2975,,OMIM ID:MTHU011852 +BMGC_DS01334,BMG_DS001693,Polycystic Kidney Diseases,UMLS ID:C0022680,,,,,polycystic kidney disease,MONDO:0020642,Polycystic Kidney Diseases,MeSH ID:D007690,autosomal dominant polycystic kidney disease,DOID:898,, +BMGC_DS01335,BMG_DS001694,Medullary sponge kidney,UMLS ID:C0022681,"Medullary cystic disease, adult type | Medullary sponge kidney | Medullary: [cystic disease, adult type] or [sponge kidney] | Medullary: [cystic disease, adult type] or [sponge kidney] (disorder) | Medullary sponge kidney | Medullary sponge kidney (disorder) | Medullary cystic disease of the kidney | Medullary cystic disease of the kidney (disorder)",SNOMEDCT ID:204959000 | SNOMEDCT ID:236443009 | SNOMEDCT ID:29780007,,,medullary sponge kidney,MONDO:0015268,,,,,,OMIM ID:MTHU067062 +BMGC_DS01336,BMG_DS001695,Kienbock Disease,UMLS ID:C0022682,,,,,Kienbock disease,MONDO:0019967,Osteonecrosis,MeSH ID:D010020,,,, +BMGC_DS01337,BMG_DS001696,Menkes Kinky Hair Syndrome,UMLS ID:C0022716,,,,,Menkes disease,MONDO:0010651,Menkes Kinky Hair Syndrome,MeSH ID:D007706,Menkes disease,DOID:1838,,OMIM ID:309400 +BMGC_DS01338,BMG_DS001697,Klebsiella Infections,UMLS ID:C0022729,,,,,Klebsiella infectious disease,MONDO:0030603,Klebsiella Infections,MeSH ID:D007710,Klebsiella pneumonia,DOID:13272,, +BMGC_DS01339,BMG_DS001698,,UMLS ID:C0022734,,,,,kleptomania,MONDO:0001520,,,kleptomania,DOID:12400,, +BMGC_DS01340,BMG_DS001699,Klinefelter Syndrome,UMLS ID:C0022735,,,,,Klinefelter syndrome,MONDO:0006823,Klinefelter Syndrome,MeSH ID:D007713,Klinefelter syndrome,DOID:1921,, +BMGC_DS01341,BMG_DS001700,Klippel-Feil Syndrome,UMLS ID:C0022738,,,,,Klippel-Feil syndrome,MONDO:0001029,Klippel-Feil Syndrome,MeSH ID:D007714,Klippel-Feil syndrome,DOID:10426,, +BMGC_DS01342,BMG_DS001701,Klippel-Trenaunay-Weber Syndrome,UMLS ID:C0022739,,,,,angioosteohypertrophic syndrome,MONDO:0007864,Klippel-Trenaunay-Weber Syndrome,MeSH ID:D007715,Klippel-Trenaunay syndrome,DOID:2926,,OMIM ID:149000 +BMGC_DS01343,BMG_DS001702,,UMLS ID:C0022782,,,,,leukoplakia of penis,MONDO:0006830,,,leukoplakia of penis,DOID:8738,, +BMGC_DS01344,BMG_DS001703,Vulvar Lichen Sclerosus,UMLS ID:C0022783,,,,,vulvar lichen sclerosus,MONDO:0006491,Vulvar Lichen Sclerosus,MeSH ID:D007724,,,, +BMGC_DS01345,BMG_DS001704,,UMLS ID:C0022790,,,,,Krukenberg carcinoma,MONDO:0004829,,,Krukenberg carcinoma,DOID:9597,, +BMGC_DS01346,BMG_DS001705,Adult Neuronal Ceroid Lipofuscinosis,UMLS ID:C0022797,,,,,adult neuronal ceroid lipofuscinosis,MONDO:0019260,Neuronal Ceroid-Lipofuscinoses,MeSH ID:D009472,,,, +BMGC_DS01347,BMG_DS001706,Kuru,UMLS ID:C0022802,Kuru | Kuru (disorder) | Kuru encephalitis | Kuru | Kuru (disorder),SNOMEDCT ID:86188000 | SNOMEDCT ID:192684001,,,kuru,MONDO:0006825,Kuru,MeSH ID:D007729,kuru,DOID:648,ICD10 ID:A81.81, +BMGC_DS01348,BMG_DS001707,Kwashiorkor,UMLS ID:C0022806,Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Dietary deficiency | Marasmus | Insufficiency - dietary | Nutritional deficiencies | Deficiency -nutritional | Kwashiorkor | Kwashiokor | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder) | Kwashiorkor | Malignant malnutrition | Deposed child syndrome | Fatty liver of Brahmin children | Protein malnutrition | Nutritional edema with dyspigmentation of skin AND/OR hair | Nutritional oedema with dyspigmentation of skin AND/OR hair | Kwashiorkor (disorder) | Kwashiokor | Deficiency -nutritional | Marasmus | Kwashiorkor | Nutritional deficiencies | Insufficiency - dietary | Dietary deficiency | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder),SNOMEDCT ID:267495004 | SNOMEDCT ID:58262005 | SNOMEDCT ID:154730001,,,kwashiorkor,MONDO:0006826,Kwashiorkor,MeSH ID:D007732,kwashiorkor,DOID:13579,ICD10 ID:E40, +BMGC_DS01349,BMG_DS001708,Kyasanur Forest Disease,UMLS ID:C0022810,,,,,Kyasanur forest disease,MONDO:0017881,Kyasanur Forest Disease,MeSH ID:D007733,Kyasanur forest disease,DOID:11320,, +BMGC_DS01350,BMG_DS001710,Labyrinthine disorder,UMLS ID:C0022890,Labyrinthine disorder | Labyrinthine vertigo | Vestibular disorder | Central vestibular vertigo | Labyrinthine disorder (disorder),SNOMEDCT ID:20425006,,,,,,,inner ear disease,DOID:2952,, +BMGC_DS01351,BMG_DS001711,Labyrinthitis,UMLS ID:C0022893,Labyrinthitis | Labyrinthitis (disorder),SNOMEDCT ID:155239008 | SNOMEDCT ID:23919004,Labyrinthitis,ICD11 ID:AB30.1,labyrinthitis,MONDO:0002008,Labyrinthitis,MeSH ID:D007762,labyrinthitis,DOID:1468,ICD10 ID:H83.0, +BMGC_DS01352,BMG_DS001712,Lacrimal Apparatus Diseases,UMLS ID:C0022904,,,,,lacrimal apparatus disorder,MONDO:0001854,Lacrimal Apparatus Diseases,MeSH ID:D007766,lacrimal apparatus disease,DOID:1400,, +BMGC_DS01353,BMG_DS001713,,UMLS ID:C0022906,,,,,,,,,lacrimal duct obstruction,DOID:13929,, +BMGC_DS01354,BMG_DS001714,Lactation Disorder,UMLS ID:C0022927,,,,,lactation disease,MONDO:0045019,Lactation Disorders,MeSH ID:D007775,,,, +BMGC_DS01355,BMG_DS001715,Lactose Intolerance,UMLS ID:C0022951,,,,,lactose intolerance,MONDO:0100345,Lactose Intolerance,MeSH ID:D007787,lactose intolerance,DOID:10604,, +BMGC_DS01356,BMG_DS001717,Lambert-Eaton Myasthenic Syndrome,UMLS ID:C0022972,,,,,Lambert-Eaton myasthenic syndrome,MONDO:0018556,Lambert-Eaton Myasthenic Syndrome,MeSH ID:D015624,Lambert-Eaton myasthenic syndrome,DOID:0050214,, +BMGC_DS01357,BMG_DS001719,Langer-Giedion Syndrome,UMLS ID:C0023003,,,,,trichorhinophalangeal syndrome type II,MONDO:0007874,Langer-Giedion Syndrome,MeSH ID:D015826,trichorhinophalangeal syndrome type II,DOID:4998,,OMIM ID:150230 +BMGC_DS01358,BMG_DS001721,,UMLS ID:C0023015,,,,,language disorder,MONDO:0004750,,,language disorder,DOID:93,, +BMGC_DS01359,BMG_DS001723,"Larva Migrans, Visceral",UMLS ID:C0023049,,,,,"larva migrans, visceral",MONDO:0024954,"Larva Migrans, Visceral",MeSH ID:D007816,toxocariasis,DOID:9790,, +BMGC_DS01360,BMG_DS001724,Laryngeal Diseases,UMLS ID:C0023051,,,,,laryngeal disorder,MONDO:0004382,Laryngeal Diseases,MeSH ID:D007818,laryngeal disease,DOID:786,, +BMGC_DS01361,BMG_DS001725,,UMLS ID:C0023055,,,,,laryngeal neoplasm,MONDO:0021071,,,laryngeal benign neoplasm,DOID:2598,, +BMGC_DS01362,BMG_DS001726,Laryngeal Perichondritis,UMLS ID:C0023059,,,,,,,Laryngeal Diseases,MeSH ID:D007818,,,, +BMGC_DS01363,BMG_DS001727,Laryngospasm,UMLS ID:C0023066,Laryngeal spasm (disorder) | Laryngeal spasm | Laryngospasm | Laryngeal spasm | Laryngospasm | Laryngismus stridulus | Laryngeal spasm (disorder) | Laryngospasm | Laryngospasm (finding) | Laryngospasm | Laryngospasm (disorder),SNOMEDCT ID:406444002 | SNOMEDCT ID:42006002 | SNOMEDCT ID:29331000 | SNOMEDCT ID:195868005,,,,,Laryngismus,MeSH ID:D007826,,,,OMIM ID:MTHU001729 +BMGC_DS01364,BMG_DS001728,Laryngitis,UMLS ID:C0023067,Laryngitis | Laryngitis (disorder),SNOMEDCT ID:45913009,,,laryngitis,MONDO:0002647,Laryngitis,MeSH ID:D007827,laryngitis,DOID:3437,, +BMGC_DS01365,BMG_DS001730,,UMLS ID:C0023075,,,,,laryngostenosis,MONDO:0001305,,,laryngostenosis,DOID:11527,, +BMGC_DS01366,BMG_DS001733,Lassa Fever,UMLS ID:C0023092,,,,,Lassa fever,MONDO:0005820,Lassa Fever,MeSH ID:D007835,Lassa fever,DOID:9537,, +BMGC_DS01367,BMG_DS001734,Laurence-Moon Syndrome,UMLS ID:C0023138,,,,,Laurence-Moon syndrome,MONDO:0009514,Laurence-Moon Syndrome,MeSH ID:D007849,Laurence-Moon syndrome,DOID:1930,,OMIM ID:245800 +BMGC_DS01368,BMG_DS001736,,UMLS ID:C0023186,,,,,,,,,learning disability,DOID:8927,, +BMGC_DS01369,BMG_DS001737,Familial lecithin cholesterol acyltransferase deficiency,UMLS ID:C0023195,Familial lecithin cholesterol acyltransferase deficiency (disorder) | Familial lecithin cholesterol acyltransferase deficiency | Complete LCAT deficiency | Norum disease | Complete LCAT (lecithin-cholesterol acyltransferase) deficiency,SNOMEDCT ID:1264565005,,,Norum disease,MONDO:0009515,,,Norum disease,DOID:1391,,OMIM ID:245900 +BMGC_DS01370,BMG_DS001738,Left Bundle-Branch Block,UMLS ID:C0023211,,,,,,,Bundle-Branch Block,MeSH ID:D002037,,,, +BMGC_DS01371,BMG_DS001739,Left-Sided Heart Failure,UMLS ID:C0023212,,,,,,,Heart Failure,MeSH ID:D006333,,,, +BMGC_DS01372,BMG_DS001741,Leg Dermatoses,UMLS ID:C0023219,,,,,leg dermatosis,MONDO:0006569,Leg Dermatoses,MeSH ID:D007868,leg dermatosis,DOID:3142,, +BMGC_DS01373,BMG_DS001742,Leg Ulcer,UMLS ID:C0023223,,,,,ulcer of lower limbs,MONDO:0004601,Leg Ulcer,MeSH ID:D007871,,,, +BMGC_DS01374,BMG_DS001743,Coxa plana (disorder),UMLS ID:C0023234,Coxa plana | Coxa plana (disorder),SNOMEDCT ID:240241003,,,,,,,Legg-Calve-Perthes disease,DOID:14415,, +BMGC_DS01375,BMG_DS001744,Legionellosis,UMLS ID:C0023240,Legionella infection | Legionellosis | Legionella infection (disorder),SNOMEDCT ID:26726000,,,legionellosis,MONDO:0005823,Legionellosis,MeSH ID:D007876,legionellosis,DOID:10458,, +BMGC_DS01376,BMG_DS001745,Legionnaires' Disease,UMLS ID:C0023241,,,,,Legionnaires' disease,MONDO:0005824,Legionnaires' Disease,MeSH ID:D007877,Legionnaires' disease,DOID:10457,, +BMGC_DS01377,BMG_DS001746,Leigh Disease,UMLS ID:C0023264,,,,,,,Leigh Disease,MeSH ID:D007888,Leigh disease,DOID:3652,, +BMGC_DS01378,BMG_DS001747,,UMLS ID:C0023267,,,,,leiomyoma,MONDO:0001572,,,leiomyoma,DOID:127,, +BMGC_DS01379,BMG_DS001748,,UMLS ID:C0023269,,,,,leiomyosarcoma,MONDO:0005058,,,leiomyosarcoma,DOID:1967,, +BMGC_DS01380,BMG_DS001749,Leishmaniasis,UMLS ID:C0023281,(Rickettsioses/arthropod NOS) or (leishmaniasis) | Leishmaniasis | Rickettsioses/arthropod NOS | (Rickettsioses/arthropod NOS) or (leishmaniasis) (disorder) | Leishmaniasis | Leishmaniosis | Leishmaniasis (disorder),SNOMEDCT ID:266206004 | SNOMEDCT ID:154377009 | SNOMEDCT ID:80612004,,,leishmaniasis,MONDO:0011989,Leishmaniasis,MeSH ID:D007896,leishmaniasis,DOID:9065,ICD10 ID:B55, +BMGC_DS01381,BMG_DS001750,"Leishmaniasis, Cutaneous",UMLS ID:C0023283,,,,,cutaneous leishmaniasis,MONDO:0005446,"Leishmaniasis, Cutaneous",MeSH ID:D016773,cutaneous leishmaniasis,DOID:9111,, +BMGC_DS01382,BMG_DS001755,"Leishmaniasis, Visceral",UMLS ID:C0023290,,,,,visceral leishmaniasis,MONDO:0005445,"Leishmaniasis, Visceral",MeSH ID:D007898,visceral leishmaniasis,DOID:9146,, +BMGC_DS01383,BMG_DS001756,Lens Diseases,UMLS ID:C0023308,,,,,,,Lens Diseases,MeSH ID:D007905,lens disease,DOID:110,, +BMGC_DS01384,BMG_DS001757,Lens Dislocation and Subluxation,UMLS ID:C0023310,,,,,,,Lens Subluxation,MeSH ID:D007906,,,, +BMGC_DS01385,BMG_DS001758,Lens Subluxation,UMLS ID:C0023316,,,,,lens subluxation,MONDO:0001271,Lens Subluxation,MeSH ID:D007906,lens subluxation,DOID:11364,, +BMGC_DS01386,BMG_DS001759,Lentigo,UMLS ID:C0023321,Dyschromia NOS | Freckles | Melanosis | Lentigo | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Lentigo (morphologic abnormality) | Lentigo | Lentigo (disorder) | Lentigo | Lentigo | Lentigo simplex | Nevus spilus | Naevus spilus | Speckled lentiginous naevus | Speckled lentiginous nevus | Lentigo (disorder) | Lentigo | Freckles | Dyschromia NOS | Melanosis | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Lentigo | Lentigo (disorder),SNOMEDCT ID:156438005 | SNOMEDCT ID:767376003 | SNOMEDCT ID:398744007 | SNOMEDCT ID:75534002 | SNOMEDCT ID:267870007 | SNOMEDCT ID:201286007,Hypermelanosis of unspecified aetiology,ICD11 ID:ED60.Z,lentigo,MONDO:0021582,Lentigo,MeSH ID:D007911,,,ICD10 ID:L81.4,OMIM ID:150900 +BMGC_DS01387,BMG_DS001760,Leprosy,UMLS ID:C0023343,Leprosy and other mycobacterial disorders | Leprosy | Leprosy + other mycobact. dis. | Mycobacterial disease | (Leprosy + other mycobact dis) or (mycobacterial disease) | (Leprosy + other mycobact dis) or (mycobacterial disease) (disorder) | Leprosy | Leprosy and other mycobacterial disorders | Leprosy + other mycobact. dis. | Mycobacterial disease | (Leprosy + other mycobact dis) or (mycobacterial disease) | (Leprosy + other mycobact dis) or (mycobacterial disease) (disorder) | Leprosy | Hansen's disease | Infection due to Mycobacterium leprae | Mycobacterium leprae infection | Leprosy (disorder),SNOMEDCT ID:154298007 | SNOMEDCT ID:266184007 | SNOMEDCT ID:81004002,,,leprosy,MONDO:0005124,Leprosy,MeSH ID:D007918,leprosy,DOID:1024,, +BMGC_DS01388,BMG_DS001761,Borderline leprosy,UMLS ID:C0023346,Borderline leprosy | Dimorphic leprosy | Group B leprosy | Type BB leprosy | Midborderline leprosy | BB - Borderline leprosy | Borderline leprosy (disorder) | Borderline leprosy (disorder) | Borderline leprosy | Group B leprosy,SNOMEDCT ID:50521002 | SNOMEDCT ID:400008009,Multibacillary leprosy,ICD11 ID:1B20.1,borderline leprosy,MONDO:0005125,,,borderline leprosy,DOID:1023,ICD10 ID:A30.3, +BMGC_DS01389,BMG_DS001762,"Leprosy, Lepromatous",UMLS ID:C0023348,,,,,lepromatous leprosy,MONDO:0005127,"Leprosy, Lepromatous",MeSH ID:D015440,lepromatous leprosy,DOID:10887,, +BMGC_DS01390,BMG_DS001763,Tuberculoid leprosy,UMLS ID:C0023351,Tuberculoid leprosy | Type T leprosy | Smooth leprosy | Nodular leprosy | Tuberculoid leprosy (disorder) | Full tuberculoid leprosy | Type TT leprosy | TT - Full tuberculoid leprosy | Tuberculoid Hansen's disease (leprosy),SNOMEDCT ID:70143003,Paucibacillary leprosy,ICD11 ID:1B20.0,tuberculoid leprosy,MONDO:0005126,,,tuberculoid leprosy,DOID:1025,ICD10 ID:A30.1, +BMGC_DS01391,BMG_DS001765,Leptospirosis,UMLS ID:C0023364,Angina - Vincents | Leptospirosis | Chancroid | Weil's disease | Yaws | Vincent's angina | Trench mouth | Lymphogranuloma venereum | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Other venereal/spirochaete dis | Other venereal/spirochaete disease | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Other venereal/spirochaete disease | Lymphogranuloma venereum | Leptospirosis | Chancroid | Yaws | Vincent's angina | Trench mouth | Angina - Vincents | Weil's disease | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Leptospirosis | Infection due to Leptospira | Spirochaetal jaundice | Spirochetal jaundice | Seven day fever | Cane cutter's fever | Harvest fever | Japanese autumnal fever | Queensland fever | Rice-field worker's disease | Leptospirosis (disorder) | Spirochetal jaundice | Leptospirosis | Mud fever | Swamp fever | Cane cutter's fever | Harvest fever | Pretibial fever | Red water fever | Seven day fever | Japanese autumnal fever | Fort Bragg fever | Queensland fever | Rice-field worker's disease | Spirochaetal jaundice | Leptospirosis (disorder),SNOMEDCT ID:154391003 | SNOMEDCT ID:266213004 | SNOMEDCT ID:77377001 | SNOMEDCT ID:186953000,,,leptospirosis,MONDO:0005825,Leptospirosis,MeSH ID:D007922,leptospirosis,DOID:2297,ICD10 ID:A27, +BMGC_DS01392,BMG_DS001768,Lesch-Nyhan Syndrome,UMLS ID:C0023374,,,,,Lesch-Nyhan syndrome,MONDO:0010298,Lesch-Nyhan Syndrome,MeSH ID:D007926,Lesch-Nyhan syndrome,DOID:1919,,OMIM ID:300322 +BMGC_DS01393,BMG_DS001769,Letterer-Siwe Disease,UMLS ID:C0023381,,,,,letterer-Siwe disease,MONDO:0009519,"Histiocytosis, Langerhans-Cell",MeSH ID:D006646,Langerhans-cell histiocytosis,DOID:2571,,OMIM ID:246400 +BMGC_DS01394,BMG_DS001770,,UMLS ID:C0023418,,,,,leukemia,MONDO:0005059,,,leukemia,DOID:1240,, +BMGC_DS01395,BMG_DS001771,,UMLS ID:C0023434,,,,,B-cell chronic lymphocytic leukemia,MONDO:0004948,,,chronic lymphocytic leukemia,DOID:1040,,OMIM ID:151400 +BMGC_DS01396,BMG_DS001772,,UMLS ID:C0023437,,,,,acute basophilic leukemia,MONDO:0019458,,,,,, +BMGC_DS01397,BMG_DS001773,,UMLS ID:C0023440,,,,,acute erythroid leukemia,MONDO:0017858,,,,,, +BMGC_DS01398,BMG_DS001774,,UMLS ID:C0023443,,,,,hairy cell leukemia,MONDO:0018935,,,hairy cell leukemia,DOID:285,, +BMGC_DS01399,BMG_DS001775,,UMLS ID:C0023448,,,,,lymphoid leukemia,MONDO:0005402,,,lymphoid leukemia,DOID:1037,, +BMGC_DS01400,BMG_DS001776,,UMLS ID:C0023449,,,,,acute lymphoblastic leukemia,MONDO:0004967,,,acute lymphoblastic leukemia,DOID:9952,, +BMGC_DS01401,BMG_DS001777,,UMLS ID:C0023452,,,,,childhood acute lymphoblastic leukemia,MONDO:0000870,,,,,, +BMGC_DS01402,BMG_DS001778,,UMLS ID:C0023461,,,,,mast cell leukemia,MONDO:0020334,,,mast-cell leukemia,DOID:9254,, +BMGC_DS01403,BMG_DS001779,,UMLS ID:C0023462,,,,,acute megakaryoblastic leukemia,MONDO:0018872,,,acute megakaryocytic leukemia,DOID:8761,, +BMGC_DS01404,BMG_DS001780,,UMLS ID:C0023464,,,,,acute biphenotypic leukemia,MONDO:0020322,,,acute biphenotypic leukemia,DOID:9953,, +BMGC_DS01405,BMG_DS001781,,UMLS ID:C0023465,,,,,acute monocytic leukemia,MONDO:0007896,,,acute monocytic leukemia,DOID:8864,,OMIM ID:151380 +BMGC_DS01406,BMG_DS001782,,UMLS ID:C0023466,,,,,chronic monocytic leukemia,MONDO:0004614,,,chronic monocytic leukemia,DOID:8593,, +BMGC_DS01407,BMG_DS001783,,UMLS ID:C0023467,,,,,acute myeloid leukemia,MONDO:0018874,,,acute myeloid leukemia,DOID:9119,,OMIM ID:601626 +BMGC_DS01408,BMG_DS001784,,UMLS ID:C0023470,,,,,myeloid leukemia,MONDO:0004643,,,myeloid leukemia,DOID:8692,, +BMGC_DS01409,BMG_DS001786,,UMLS ID:C0023473,,,,,,,,,"chronic myelogenous leukemia, BCR-ABL1 positive | chronic myeloid leukemia",DOID:8552;DOID:0081088,, +BMGC_DS01410,BMG_DS001788,,UMLS ID:C0023479,,,,,acute myelomonocytic leukemia M4,MONDO:0018871,,,acute myelomonocytic leukemia,DOID:0081082,, +BMGC_DS01411,BMG_DS001789,,UMLS ID:C0023480,,,,,chronic myelomonocytic leukemia,MONDO:0020311,,,,,, +BMGC_DS01412,BMG_DS001790,,UMLS ID:C0023481,,,,,chronic neutrophilic leukemia,MONDO:0019451,,,,,, +BMGC_DS01413,BMG_DS001791,,UMLS ID:C0023483,,,,,null-cell leukemia,MONDO:0004932,,,null-cell leukemia,DOID:9954,, +BMGC_DS01414,BMG_DS001792,,UMLS ID:C0023484,,,,,plasma cell leukemia,MONDO:0018689,,,plasma cell leukemia,DOID:9513,, +BMGC_DS01415,BMG_DS001793,,UMLS ID:C0023486,,,,,prolymphocytic leukemia,MONDO:0001023,,,prolymphocytic leukemia,DOID:1039,, +BMGC_DS01416,BMG_DS001794,,UMLS ID:C0023487,,,,,acute promyelocytic leukemia,MONDO:0012883,,,acute promyelocytic leukemia,DOID:0060318,,OMIM ID:612376 +BMGC_DS01417,BMG_DS001795,,UMLS ID:C0023492,,,,,T-cell leukemia,MONDO:0005525,,,T-cell acute lymphoblastic leukemia,DOID:5603,, +BMGC_DS01418,BMG_DS001796,,UMLS ID:C0023493,,,,,adult T-cell leukemia/lymphoma,MONDO:0019471,,,adult T-cell leukemia/lymphoma,DOID:0050523,, +BMGC_DS01419,BMG_DS001797,Leukemoid Reaction,UMLS ID:C0023501,,,,,leukemoid reaction,MONDO:0006829,Leukemoid Reaction,MeSH ID:D007955,,,, +BMGC_DS01420,BMG_DS001798,Leukocyte Disorders,UMLS ID:C0023510,,,,,leukocyte disorder,MONDO:0004805,Leukocyte Disorders,MeSH ID:D007960,leukocyte disease,DOID:9500,, +BMGC_DS01421,BMG_DS001799,Leukocytosis,UMLS ID:C0023518,WBC: [other diseases] or [lymphocytosis] or [leukocytosis] | Lymphocytosis | Other WBC diseases | Leucocytosis | Leukocytosis | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | Lymphocytosis | Other WBC diseases | WBC: [other diseases] or [lymphocytosis] or [leukocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | Leukocytosis | Leucocytosis | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | (Other white blood cell disease NOS) or (leukocytosis) | Other white blood cell disease NOS | Leucocytosis | Leukocytosis | (Other white blood cell disease NOS) or (leucocytosis) | (Other white blood cell disease NOS) or (leucocytosis) (disorder) | (Other white blood cell disease) or (leukocytosis) | Leukocytosis | Other white blood cell disease | Leucocytosis | (Other white blood cell disease) or (leucocytosis) | (Other white blood cell disease) or (leucocytosis) (disorder) | Leucocytosis | Leukocytosis | Leucocytosis (finding) | Leukocytosis | Leucocytosis | Leukocytosis (disorder),SNOMEDCT ID:267568006 | SNOMEDCT ID:154832004 | SNOMEDCT ID:191368009 | SNOMEDCT ID:191364006 | SNOMEDCT ID:142918008 | SNOMEDCT ID:111583006,,,,,Leukocytosis,MeSH ID:D007964,,,,OMIM ID:MTHU000211 +BMGC_DS01422,BMG_DS001800,Leukodystrophy,UMLS ID:C0023520,Leukodystrophy | Leukodystrophy (disorder) | Leucodystrophy | Leukodystrophy | Leukodystrophy (disorder),SNOMEDCT ID:5101009 | SNOMEDCT ID:192781003,,,leukodystrophy,MONDO:0019046,,,leukodystrophy,DOID:10579,,OMIM ID:MTHU037739 +BMGC_DS01423,BMG_DS001801,,UMLS ID:C0023521,,,,,Krabbe disease,MONDO:0009499,,,Krabbe disease,DOID:10587,,OMIM ID:245200 +BMGC_DS01424,BMG_DS001802,"Leukodystrophy, Metachromatic",UMLS ID:C0023522,,,,,metachromatic leukodystrophy,MONDO:0018868,"Leukodystrophy, Metachromatic",MeSH ID:D007966,metachromatic leukodystrophy,DOID:10581,, +BMGC_DS01425,BMG_DS001803,Oral leukoedema,UMLS ID:C0023523,Leukoedema of mouth | Leukedema of mouth | Oral leukoedema | Leukedema of mouth (disorder),SNOMEDCT ID:67795000,,,oral leukoedema,MONDO:0006880,,,oral leukoedema,DOID:4557,, +BMGC_DS01426,BMG_DS001804,"Leukoencephalopathy, Progressive Multifocal",UMLS ID:C0023524,,,,,progressive multifocal leukoencephalopathy,MONDO:0016318,"Leukoencephalopathy, Progressive Multifocal",MeSH ID:D007968,progressive multifocal leukoencephalopathy,DOID:643,, +BMGC_DS01427,BMG_DS001806,"Leukomalacia, Periventricular",UMLS ID:C0023529,,,,,periventricular leukomalacia,MONDO:0015742,"Leukomalacia, Periventricular",MeSH ID:D007969,periventricular leukomalacia,DOID:13088,, +BMGC_DS01428,BMG_DS001807,Leukopenia,UMLS ID:C0023530,Leukopenia | Leucopenia | Leucopenia (finding) | Leukopenia | Leucopenia | Leukopenia (disorder) | Leukocytopenia | Leucocytopenia | Leucopenia | Leukopenia | Leucopenia (disorder),SNOMEDCT ID:142917003 | SNOMEDCT ID:84828003 | SNOMEDCT ID:191348003,,,leukopenia,MONDO:0003785,Leukopenia,MeSH ID:D007970,leukopenia,DOID:615,ICD10 ID:D72.819,OMIM ID:MTHU036911 +BMGC_DS01429,BMG_DS001808,,UMLS ID:C0023531,,,,,leukoplakia,MONDO:0043243,,,,,, +BMGC_DS01430,BMG_DS001809,,UMLS ID:C0023532,,,,,oral mucosa leukoplakia,MONDO:0004844,,,,,, +BMGC_DS01431,BMG_DS001810,,UMLS ID:C0023533,,,,,leukorrhea,MONDO:0002769,,,leukorrhea,DOID:3766,, +BMGC_DS01432,BMG_DS001813,,UMLS ID:C0023601,,,,,Leydig cell tumor,MONDO:0006266,,,Leydig cell tumor,DOID:2696,, +BMGC_DS01433,BMG_DS001814,,UMLS ID:C0023643,,,,,lichen disease,MONDO:0006570,,,lichen disease,DOID:8574,, +BMGC_DS01434,BMG_DS001815,Lichen planus follicularis,UMLS ID:C0023645,Lichen planopilaris | Lichen planus follicularis | Lichen planopilaris (disorder),SNOMEDCT ID:64540004,,,lichen planopilaris,MONDO:0018879,,MeSH ID:C535892,,,, +BMGC_DS01435,BMG_DS001816,Lichen Planus,UMLS ID:C0023646,,,,,lichen planus,MONDO:0006572,Lichen Planus,MeSH ID:D008010,lichen planus,DOID:9201,, +BMGC_DS01436,BMG_DS001824,,UMLS ID:C0023743,,,,,,,,,linitis plastica,DOID:4023,, +BMGC_DS01437,BMG_DS001825,Lip Diseases,UMLS ID:C0023760,,,,,lip disorder,MONDO:0004748,Lip Diseases,MeSH ID:D008047,lip disease,DOID:9297,, +BMGC_DS01438,BMG_DS001827,"Lipid Metabolism, Inborn Errors",UMLS ID:C0023772,,,,,,,"Lipid Metabolism, Inborn Errors",MeSH ID:D008052,lipid metabolism disorder,DOID:3146,, +BMGC_DS01439,BMG_DS001828,Mucopolysaccharidosis I,UMLS ID:C0023786,,,,,mucopolysaccharidosis type 1,MONDO:0001586,Mucopolysaccharidosis I,MeSH ID:D008059,mucopolysaccharidosis I,DOID:12802,, +BMGC_DS01440,BMG_DS001829,Lipodystrophy,UMLS ID:C0023787,Lipodystrophy | Dystrophy of fatty tissue | Lipodystrophy (disorder) | (Lipodystrophy) or (Barraquer - Simons disease) | Barraquer-Simons disease | Lipodystrophy | Barraquer - Simons disease | (Lipodystrophy) or (Barraquer - Simons disease) (disorder),SNOMEDCT ID:71325002 | SNOMEDCT ID:190789006,,,lipodystrophy,MONDO:0006573,Lipodystrophy,MeSH ID:D008060,lipodystrophy,DOID:811,,OMIM ID:MTHU037286 +BMGC_DS01441,BMG_DS001830,Whipple Disease,UMLS ID:C0023788,,,,,Whipple disease,MONDO:0005116,Whipple Disease,MeSH ID:D008061,Whipple disease,DOID:8476,, +BMGC_DS01442,BMG_DS001831,Lipoidosis,UMLS ID:C0023794,Lipoidosis | Lipoidosis (disorder),SNOMEDCT ID:11455007,,,lysosomal lipid storage disorder,MONDO:0019245,Lipidoses,MeSH ID:D008064,lipid storage disease,DOID:9455,, +BMGC_DS01443,BMG_DS001832,Lipoid Proteinosis of Urbach and Wiethe,UMLS ID:C0023795,,,,,lipoid proteinosis,MONDO:0009530,Lipoid Proteinosis of Urbach and Wiethe,MeSH ID:D008065,lipoid proteinosis,DOID:14498,,OMIM ID:247100 +BMGC_DS01444,BMG_DS001833,,UMLS ID:C0023798,,,,,lipoma,MONDO:0005106,,,lipoma,DOID:3315,, +BMGC_DS01445,BMG_DS001834,Lipomatosis,UMLS ID:C0023801,Lipomatosis | Lipomatosis (morphologic abnormality) | Lipomatosis (disorder) | Lipomatosis,SNOMEDCT ID:37095002 | SNOMEDCT ID:402693001,,,lipomatosis,MONDO:0006574,Lipomatosis,MeSH ID:D008068,lipomatosis,DOID:3153,, +BMGC_DS01446,BMG_DS001836,"Lipomatosis, Multiple Symmetrical",UMLS ID:C0023804,,,,,multiple symmetric lipomatosis,MONDO:0007908,"Lipomatosis, Multiple Symmetrical",MeSH ID:D008069,multiple symmetric lipomatosis,DOID:14116,,OMIM ID:151800 +BMGC_DS01447,BMG_DS001837,Lipomucopolysaccharidosis,UMLS ID:C0023806,Sialidosis type 1 (disorder) | Sialidosis type 1 | Cherry red spot myoclonus syndrome | Lipomucopolysaccharidosis | Normomorphic sialidosis,SNOMEDCT ID:723675006,,,sialidosis type 1,MONDO:0019346,Mucolipidoses,MeSH ID:D009081,,,, +BMGC_DS01448,BMG_DS001838,Hyperlipoproteinemia Type I,UMLS ID:C0023817,,,,,familial lipoprotein lipase deficiency,MONDO:0009387,Hyperlipoproteinemia Type I,MeSH ID:D008072,familial lipoprotein lipase deficiency,DOID:14118,,OMIM ID:238600 +BMGC_DS01449,BMG_DS001839,,UMLS ID:C0023827,,,,,liposarcoma,MONDO:0005060,,,liposarcoma,DOID:3382,, +BMGC_DS01450,BMG_DS001840,Listeriosis,UMLS ID:C0023860,Listeriosis | Listeriosis (disorder) | Listeriosis | Infection due to Listeria monocytogenes | Circling disease | Listerellosis | Listeriosis (disorder) | Listeria monocytogenes infection,SNOMEDCT ID:186315001 | SNOMEDCT ID:4241002,,,listeriosis,MONDO:0005828,Listeriosis,MeSH ID:D008088,listeriosis,DOID:11573,ICD10 ID:A32, +BMGC_DS01451,BMG_DS001841,Little's Disease,UMLS ID:C0023882,,,,,,,Cerebral Palsy,MeSH ID:D002547,spastic diplegia,DOID:10965,, +BMGC_DS01452,BMG_DS001842,Liver Abscess,UMLS ID:C0023885,,,,,,,Liver Abscess,MeSH ID:D008100,,,, +BMGC_DS01453,BMG_DS001843,"Liver Abscess, Amebic",UMLS ID:C0023886,,,,,,,"Liver Abscess, Amebic",MeSH ID:D008101,,,, +BMGC_DS01454,BMG_DS001844,Liver Cirrhosis,UMLS ID:C0023890,,,,,cirrhosis of liver,MONDO:0005155,Liver Cirrhosis,MeSH ID:D008103,liver cirrhosis,DOID:5082,, +BMGC_DS01455,BMG_DS001845,"Liver Cirrhosis, Alcoholic",UMLS ID:C0023891,,,,,alcoholic liver cirrhosis,MONDO:0006644,"Liver Cirrhosis, Alcoholic",MeSH ID:D008104,alcoholic liver cirrhosis,DOID:14018,, +BMGC_DS01456,BMG_DS001846,Biliary cirrhosis,UMLS ID:C0023892,Biliary cirrhosis | Cholangitic cirrhosis | Cholestatic cirrhosis | Chronic nonsuppurative destructive cholangitis | Biliary cirrhosis (disorder),SNOMEDCT ID:1761006,,,,,,,primary biliary cholangitis,DOID:12236,,OMIM ID:MTHU037261 +BMGC_DS01457,BMG_DS001847,,UMLS ID:C0023895,,,,,,,,,liver disease,DOID:409,, +BMGC_DS01458,BMG_DS001848,Alcoholic Liver Diseases,UMLS ID:C0023896,,,,,alcoholic liver diseases,MONDO:0043693,"Liver Diseases, Alcoholic",MeSH ID:D008108,,,, +BMGC_DS01459,BMG_DS001849,"Liver Diseases, Parasitic",UMLS ID:C0023897,,,,,,,"Liver Diseases, Parasitic",MeSH ID:D008109,,,, +BMGC_DS01460,BMG_DS001850,,UMLS ID:C0023903,,,,,,,,,liver cancer,DOID:3571,, +BMGC_DS01461,BMG_DS001851,Lobstein Disease,UMLS ID:C0023931,,,,,osteogenesis imperfecta type 1,MONDO:0008146,Osteogenesis Imperfecta,MeSH ID:D010013,osteogenesis imperfecta type 1,DOID:0110334,,OMIM ID:166200 +BMGC_DS01462,BMG_DS001853,Locked-In Syndrome,UMLS ID:C0023944,,,,,locked-in syndrome,MONDO:0016567,Locked-In Syndrome,MeSH ID:D000080422,locked-in syndrome,DOID:12697,, +BMGC_DS01463,BMG_DS001854,,UMLS ID:C0023968,,,,,loiasis,MONDO:0016566,,,loiasis,DOID:13523,, +BMGC_DS01464,BMG_DS001855,,UMLS ID:C0023976,,,,,long QT syndrome,MONDO:0002442,,,long QT syndrome,DOID:2843,, +BMGC_DS01465,BMG_DS001856,,UMLS ID:C0024025,,,,,,,,,louping ill,DOID:10250,, +BMGC_DS01466,BMG_DS001857,,UMLS ID:C0024054,,,,,,,,,Lown-Ganong-Levine syndrome,DOID:13087,, +BMGC_DS01467,BMG_DS001858,,UMLS ID:C0024081,,,,,Ludwig's angina,MONDO:0006576,,,Ludwig's angina,DOID:4558,, +BMGC_DS01468,BMG_DS001860,,UMLS ID:C0024110,,,,,lung abscess,MONDO:0000744,,,lung abscess,DOID:0060317,, +BMGC_DS01469,BMG_DS001861,Lung diseases,UMLS ID:C0024115,Respiratory system diseases (& lung diseases) | Respiratory diseases | Respiratory system diseases | Lung diseases | Respiratory system diseases (& lung diseases) (disorder),SNOMEDCT ID:266374002,,,lung disorder,MONDO:0005275,,,lung disease,DOID:850,, +BMGC_DS01470,BMG_DS001862,"Lung Diseases, Fungal",UMLS ID:C0024116,,,,,fungal lung infectious disease,MONDO:0005766,"Lung Diseases, Fungal",MeSH ID:D008172,,,, +BMGC_DS01471,BMG_DS001863,Chronic Obstructive Airway Disease,UMLS ID:C0024117,,,,,chronic obstructive pulmonary disease,MONDO:0005002,"Pulmonary Disease, Chronic Obstructive",MeSH ID:D029424,chronic obstructive pulmonary disease,DOID:3083,,OMIM ID:606963 +BMGC_DS01472,BMG_DS001864,"Lung Diseases, Parasitic",UMLS ID:C0024118,,,,,,,"Lung Diseases, Parasitic",MeSH ID:D008174,,,, +BMGC_DS01473,BMG_DS001865,,UMLS ID:C0024121,,,,,lung neoplasm,MONDO:0021117,,,lung benign neoplasm,DOID:3683,, +BMGC_DS01474,BMG_DS001867,"Lupus Erythematosus, Cutaneous",UMLS ID:C0024137,,,,,cutaneous lupus erythematosus | obsolete rare cutaneous lupus erythematosus,MONDO:0005282;MONDO:0018887,"Lupus Erythematosus, Cutaneous",MeSH ID:D008178,,,, +BMGC_DS01475,BMG_DS001868,Chronic discoid lupus erythematosus,UMLS ID:C0024138,Discoid lupus erythematosus | Discoid lupus erythematosus (disorder) | CDLE - Chronic discoid lupus erythematosus | Chronic discoid lupus erythematosus | Chronic discoid lupus erythematosus (disorder),SNOMEDCT ID:13902000 | SNOMEDCT ID:238927000,,,,,,,,,, +BMGC_DS01476,BMG_DS001869,"Lupus Erythematosus, Subacute Cutaneous",UMLS ID:C0024140,,,,,obsolete rare cutaneous lupus erythematosus | subacute cutaneous lupus erythematosus,MONDO:0015573;MONDO:0018887,"Lupus Erythematosus, Cutaneous",MeSH ID:D008178,,,, +BMGC_DS01477,BMG_DS001870,"Lupus Erythematosus, Systemic",UMLS ID:C0024141,,,,,systemic lupus erythematosus,MONDO:0007915,"Lupus Erythematosus, Systemic",MeSH ID:D008180,systemic lupus erythematosus,DOID:9074,,OMIM ID:152700 +BMGC_DS01478,BMG_DS001871,Lupus Nephritis,UMLS ID:C0024143,,,,,lupus nephritis,MONDO:0005556,Lupus Nephritis,MeSH ID:D008181,lupus nephritis,DOID:0080162,, +BMGC_DS01479,BMG_DS001872,Chilblain lupus 1,UMLS ID:C0024145,,,,,chilblain lupus 1,MONDO:0012500,,MeSH ID:C535924,Chilblain lupus,DOID:0060386,,OMIM ID:610448 +BMGC_DS01480,BMG_DS001873,Lutembacher Syndrome,UMLS ID:C0024164,,,,,Lutembacher syndrome,MONDO:0006839,Lutembacher Syndrome,MeSH ID:D008185,Lutembacher's syndrome,DOID:1998,, +BMGC_DS01481,BMG_DS001874,Lyme Disease,UMLS ID:C0024198,,,,,Lyme disease,MONDO:0019632,Lyme Disease,MeSH ID:D008193,Lyme disease,DOID:11729,, +BMGC_DS01482,BMG_DS001875,Lymphadenitis,UMLS ID:C0024205,Lymphadenitis | Adenitis | Inflammation of lymph node | Lymphadenitis (disorder),SNOMEDCT ID:19471005,"Chronic lymphadenitis, unspecified",ICD11 ID:BD90.2Z,lymphadenitis,MONDO:0002052,Lymphadenitis,MeSH ID:D008199,lymphadenitis,DOID:1602,ICD10 ID:I88.1,OMIM ID:MTHU037495 +BMGC_DS01483,BMG_DS001876,Lymphangiectasis,UMLS ID:C0024214,Lymphangiectasis | Lymphangiectasia | Lymphangiectasis (morphologic abnormality),SNOMEDCT ID:48087001,"Lymphoedema, unspecified",ICD11 ID:BD93.Z,lymphangiectasis,MONDO:0006840,Lymphangiectasis,MeSH ID:D008200,,,ICD10 ID:I89.0, +BMGC_DS01484,BMG_DS001879,,UMLS ID:C0024221,,,,,lymphangioma,MONDO:0002013,,,lymphangioma,DOID:1475,, +BMGC_DS01485,BMG_DS001882,Lymphangitis,UMLS ID:C0024225,Lymphangitis | Lymphangitis (disorder) | Inflammation of lymphatics,SNOMEDCT ID:1415005,Lymphangitis,ICD11 ID:BD91,lymphangitis,MONDO:0005832,Lymphangitis,MeSH ID:D008205,lymphangitis,DOID:9317,ICD10 ID:I89.1,OMIM ID:MTHU075696 +BMGC_DS01486,BMG_DS001883,Lymphatic Diseases,UMLS ID:C0024228,,,,,lymphoid system disorder,MONDO:0044986,Lymphatic Diseases,MeSH ID:D008206,lymphatic system disease,DOID:75,, +BMGC_DS01487,BMG_DS001884,Lymphedema,UMLS ID:C0024236,(Elephantiasis) or (lymphoedema [& NOS]) | (Elephantiasis) or (lymphedema [& NOS]) | Elephantiasis | Lymphoedema NOS | Lymphoedema | Lymphedema | Lymphedema NOS | (Elephantiasis) or (lymphoedema [& NOS]) (disorder) | Lymphatic edema | Acquired lymphedema | Lymphedema | Acquired lymphoedema | Lymphatic oedema | Lymphoedema | Lymphatic edema (morphologic abnormality) | Lymphatic oedema | Lymphoedema | Lymphatic edema | Lymphedema | Lymphedema (disorder) | Lymphedema | (Noninfective lymphatic disorders) or (lymphoedema) | Lymphoedema | (Noninfective lymphatic disorders) or (lymphedema) | Noninfective lymphatic disorders | (Noninfective lymphatic disorders) or (lymphoedema) (disorder) | Elephantiasis | Lymphoedema | Lymphoedema NOS | (Elephantiasis) or (lymphoedema [& NOS]) | Lymphedema | Lymphedema NOS | (Elephantiasis) or (lymphedema [& NOS]) | (Elephantiasis) or (lymphoedema [& NOS]) (disorder),SNOMEDCT ID:155485008 | SNOMEDCT ID:30213001 | SNOMEDCT ID:234097001 | SNOMEDCT ID:195486001 | SNOMEDCT ID:266334008,,,lymphedema,MONDO:0019297,Lymphedema,MeSH ID:D008209,lymphedema,DOID:4977,,OMIM ID:MTHU001042 +BMGC_DS01488,BMG_DS001885,Lymphocele,UMLS ID:C0024248,Lymphocele | Lymphocele (disorder),SNOMEDCT ID:234109007,,,lymphocele,MONDO:0002968,Lymphocele,MeSH ID:D008210,lymphocele,DOID:4347,, +BMGC_DS01489,BMG_DS001886,Lymphocytic Choriomeningitis,UMLS ID:C0024266,,,,,lymphocytic choriomeningitis,MONDO:0001449,Lymphocytic Choriomeningitis,MeSH ID:D008216,lymphocytic choriomeningitis,DOID:12155,, +BMGC_DS01490,BMG_DS001887,Lymphocytosis,UMLS ID:C0024282,Lymphocytosis | Lymphocytosis (disorder) | Lymphocytosis | Other WBC diseases | WBC: [other diseases] or [lymphocytosis] or [leukocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | Leukocytosis | Leucocytosis | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder) | WBC: [other diseases] or [lymphocytosis] or [leukocytosis] | Lymphocytosis | Other WBC diseases | Leucocytosis | Leukocytosis | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] | WBC: [other diseases] or [lymphocytosis] or [leucocytosis] (disorder),SNOMEDCT ID:67023009 | SNOMEDCT ID:154832004 | SNOMEDCT ID:267568006,,,,,Lymphocytosis,MeSH ID:D008218,,,, +BMGC_DS01491,BMG_DS001888,Lymphogranuloma Venereum,UMLS ID:C0024286,,,,,lymphogranuloma venereum,MONDO:0005834,Lymphogranuloma Venereum,MeSH ID:D008219,lymphogranuloma venereum,DOID:13819,, +BMGC_DS01492,BMG_DS001889,"Lymphohistiocytosis, Hemophagocytic",UMLS ID:C0024291,,,,,,,"Lymphohistiocytosis, Hemophagocytic",MeSH ID:D051359,hemophagocytic lymphohistiocytosis,DOID:0050120,, +BMGC_DS01493,BMG_DS001890,,UMLS ID:C0024299,,,,,lymphoma,MONDO:0005062,,,lymphoma,DOID:0060058,, +BMGC_DS01494,BMG_DS001891,,UMLS ID:C0024301,,,,,follicular lymphoma,MONDO:0018906,,,,,, +BMGC_DS01495,BMG_DS001892,,UMLS ID:C0024302,,,,,reticulum cell sarcoma,MONDO:0009975,,,reticulosarcoma,DOID:8538,,OMIM ID:267730 +BMGC_DS01496,BMG_DS001893,,UMLS ID:C0024305,,,,,non-Hodgkin lymphoma,MONDO:0018908,,,non-Hodgkin lymphoma,DOID:0060060,, +BMGC_DS01497,BMG_DS001894,,UMLS ID:C0024307,,,,,lymphomatoid granulomatosis,MONDO:0019466,,,lymphomatoid granulomatosis,DOID:0081307,, +BMGC_DS01498,BMG_DS001895,Lymphopenia,UMLS ID:C0024312,Lymphocytopenia | Lymphopenia | Alymphocytosis | Lymphocytopenia (disorder),SNOMEDCT ID:48813009,,,lymphopenia,MONDO:0003783,Lymphopenia,MeSH ID:D008231,lymphopenia,DOID:614,,OMIM ID:MTHU006263 +BMGC_DS01499,BMG_DS001896,,UMLS ID:C0024314,,,,,lymphoproliferative syndrome,MONDO:0016537,,,,,, +BMGC_DS01500,BMG_DS001897,Machado-Joseph Disease,UMLS ID:C0024408,,,,,Machado-Joseph disease,MONDO:0007182,Machado-Joseph Disease,MeSH ID:D017827,Machado-Joseph disease,DOID:1440,,OMIM ID:109150 +BMGC_DS01501,BMG_DS001898,,UMLS ID:C0024419,,,,,Waldenstrom macroglobulinemia,MONDO:0100280,,,lymphoplasmacytic lymphoma,DOID:0060901,, +BMGC_DS01502,BMG_DS001899,Macroglossia,UMLS ID:C0024421,Enlargement of tongue | Enlargement of tongue (disorder) | Macroglossia | Large tongue | Congenital hypertrophy of tongue | Enlarged tongue | Acquired hypertrophy of tongue | Congenital macroglossia | Enlargement of tongue | Acquired macroglossia | Hypertrophy of tongue | Large tongue | Enlarged tongue (disorder) | Macroglossia | Congenital hypertrophy of tongue | Congenital tongue hypertrophy | (Congenital): [macroglossia (& acquired)] or [tongue hypertrophy] | (Congenital): [macroglossia (& acquired)] or [tongue hypertrophy] (disorder),SNOMEDCT ID:25273001 | SNOMEDCT ID:52106009 | SNOMEDCT ID:204628000,,,macroglossia,MONDO:0015496,Macroglossia,MeSH ID:D008260,,,,OMIM ID:MTHU000268 +BMGC_DS01503,BMG_DS001900,Macular degeneration,UMLS ID:C0024437,Macular degeneration | Senile macular retinal degeneration | Macular degeneration (disorder),SNOMEDCT ID:302891003,,,macular degeneration,MONDO:0003004,,,macular degeneration,DOID:4448,,OMIM ID:MTHU003281 +BMGC_DS01504,BMG_DS001901,Macular corneal dystrophy,UMLS ID:C0024439,Macular corneal dystrophy | Macular corneal dystrophy (disorder),SNOMEDCT ID:60258001,,,,,,,macular corneal dystrophy,DOID:2565,ICD10 ID:H18.55,OMIM ID:MTHU037954 +BMGC_DS01505,BMG_DS001902,"Macular Edema, Cystoid",UMLS ID:C0024440,,,,,cystoid macular edema,MONDO:0007935,Macular Edema,MeSH ID:D008269,cystoid macular edema,DOID:4447,,OMIM ID:153880 +BMGC_DS01506,BMG_DS001903,Macular Holes,UMLS ID:C0024441,,,,,macular holes,MONDO:0006843,Retinal Perforations,MeSH ID:D012167,macular holes,DOID:7633,, +BMGC_DS01507,BMG_DS001904,Mycetoma,UMLS ID:C0024449,Mycetoma (disorder) | Mycetoma | Mycetomata,SNOMEDCT ID:410039003,,,mycetoma,MONDO:0016823,Mycetoma,MeSH ID:D008271,eumycotic mycetoma,DOID:13078,ICD10 ID:B47, +BMGC_DS01508,BMG_DS001905,Maffucci Syndrome,UMLS ID:C0024454,,,,,Maffucci syndrome,MONDO:0013808,Enchondromatosis,MeSH ID:D004687,Ollier disease,DOID:4624,,OMIM ID:614569 +BMGC_DS01509,BMG_DS001906,Magnesium Deficiency,UMLS ID:C0024473,,,,,magnesium deficiency,MONDO:0006844,Magnesium Deficiency,MeSH ID:D008275,,,, +BMGC_DS01510,BMG_DS001907,Majewski Syndrome,UMLS ID:C0024507,,,,,short-rib thoracic dysplasia 6 with or without polydactyly,MONDO:0009894,Short Rib-Polydactyly Syndrome,MeSH ID:D012779,,,,OMIM ID:263520 +BMGC_DS01511,BMG_DS001908,,UMLS ID:C0024517,,,,,,,,,major depressive disorder,DOID:1470,, +BMGC_DS01512,BMG_DS001909,Malabsorption Syndrome,UMLS ID:C0024523,,,,,malabsorption syndrome,MONDO:0020598,Malabsorption Syndromes,MeSH ID:D008286,,,, +BMGC_DS01513,BMG_DS001911,Malaria,UMLS ID:C0024530,Malaria | Malaria (disorder) | Malaria | Paludism | Plasmodiosis | Malaria (disorder),SNOMEDCT ID:154374002 | SNOMEDCT ID:61462000,,,malaria,MONDO:0005136,Malaria,MeSH ID:D008288,malaria,DOID:12365,, +BMGC_DS01514,BMG_DS001913,"Malaria, Cerebral",UMLS ID:C0024534,,,,,cerebral malaria,MONDO:0005625,"Malaria, Cerebral",MeSH ID:D016779,cerebral malaria,DOID:14069,, +BMGC_DS01515,BMG_DS001914,"Malaria, Falciparum",UMLS ID:C0024535,,,,,Plasmodium falciparum malaria,MONDO:0005920,"Malaria, Falciparum",MeSH ID:D016778,Plasmodium falciparum malaria,DOID:14067,, +BMGC_DS01516,BMG_DS001915,Quartan malaria,UMLS ID:C0024536,Quartan malaria | Malaria by Plasmodium malariae | Malariae malaria | Quartan malaria (disorder),SNOMEDCT ID:27618009,,,Plasmodium malariae malaria,MONDO:0001943,,,Plasmodium malariae malaria,DOID:14324,, +BMGC_DS01517,BMG_DS001916,"Malaria, Vivax",UMLS ID:C0024537,,,,,Plasmodium vivax malaria,MONDO:0005921,"Malaria, Vivax",MeSH ID:D016780,Plasmodium vivax malaria,DOID:12978,, +BMGC_DS01518,BMG_DS001917,Malignant Carcinoid Syndrome,UMLS ID:C0024586,,,,,carcinoid syndrome,MONDO:0100347,Malignant Carcinoid Syndrome,MeSH ID:D008303,,,, +BMGC_DS01519,BMG_DS001918,Malignant essential hypertension,UMLS ID:C0024588,Malignant essential hypertension | Accelerated essential hypertension | Malignant essential hypertension (disorder),SNOMEDCT ID:78975002,,,malignant essential hypertension,MONDO:0001133,,,malignant essential hypertension,DOID:10823,, +BMGC_DS01520,BMG_DS001919,,UMLS ID:C0024591,,,,,malignant hyperthermia of anesthesia,MONDO:0018493,,,malignant hyperthermia,DOID:8545,, +BMGC_DS01521,BMG_DS001920,,UMLS ID:C0024620,,,,,,,,,liver cancer,DOID:3571,, +BMGC_DS01522,BMG_DS001922,,UMLS ID:C0024622,,,,,retinal cancer,MONDO:0003072,,,retinal cancer,DOID:4645,, +BMGC_DS01523,BMG_DS001923,,UMLS ID:C0024623,,,,,gastric cancer,MONDO:0001056,,,stomach cancer,DOID:10534,,OMIM ID:613659 +BMGC_DS01524,BMG_DS001924,,UMLS ID:C0024624,,,,,,,,,lung cancer,DOID:1324,, +BMGC_DS01525,BMG_DS001926,Mandibular Diseases,UMLS ID:C0024689,,,,,,,Mandibular Diseases,MeSH ID:D008336,,,, +BMGC_DS01526,BMG_DS001927,,UMLS ID:C0024694,,,,,,,,,mandibular cancer,DOID:2338,, +BMGC_DS01527,BMG_DS001928,Mange,UMLS ID:C0024709,Mange | Mange (disorder) | Infestation by Sarcoptes scabiei | Sarcoptic mange | Animal scabies | Infestation by Sarcoptes scabiei (disorder),SNOMEDCT ID:128867006 | SNOMEDCT ID:67172004,,,,,Mite Infestations,MeSH ID:D008924,,,, +BMGC_DS01528,BMG_DS001929,"Mange, Sarcoptic",UMLS ID:C0024710,,,,,,,Scabies,MeSH ID:D012532,,,, +BMGC_DS01529,BMG_DS001930,,UMLS ID:C0024713,,,,,manic bipolar affective disorder,MONDO:0024612,,,bipolar disorder,DOID:3312,, +BMGC_DS01530,BMG_DS001931,alpha-Mannosidosis,UMLS ID:C0024748,,,,,alpha-mannosidosis,MONDO:0009561,alpha-Mannosidosis,MeSH ID:D008363,alpha-mannosidosis,DOID:3413,,OMIM ID:248500 +BMGC_DS01531,BMG_DS001932,Mansonelliasis,UMLS ID:C0024759,Mansonelliasis | Mansonelliasis (disorder),SNOMEDCT ID:240849009,Mansonelliasis,ICD11 ID:1F66.1,mansonelliasis,MONDO:0005838,Mansonelliasis,MeSH ID:D008368,mansonelliasis,DOID:1081,ICD10 ID:B74.4, +BMGC_DS01532,BMG_DS001933,Maple Syrup Urine Disease,UMLS ID:C0024776,,,,,maple syrup urine disease,MONDO:0009563,Maple Syrup Urine Disease,MeSH ID:D008375,maple syrup urine disease,DOID:9269,, +BMGC_DS01533,BMG_DS001934,Marburg Virus Disease,UMLS ID:C0024788,,,,,Marburg hemorrhagic fever,MONDO:0020500,Marburg Virus Disease,MeSH ID:D008379,Marburg hemorrhagic fever,DOID:4327,, +BMGC_DS01534,BMG_DS001935,Paroxysmal nocturnal hemoglobinuria,UMLS ID:C0024790,Hemoglobinuria: [external cause] or [hemolytic] or [paroxysmal nocturnal] | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] | Parox. noct. haemoglobinuria | Haemoglobinuria - external causation | Paroxysmal nocturnal haemoglobinuria | Haemoglobinuria-haemol. | Haemoglobinuria-external cause | Hemoglobinuria - external causation | Parox. noct. hemoglobinuria | Paroxysmal nocturnal hemoglobinuria | Hemoglobinuria-hemol. | Hemoglobinuria-external cause | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] (disorder) | Hemoglobinuria: [external cause] or [hemolytic] or [paroxysmal nocturnal] | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] | Hemoglobinuria - external causation | Hemoglobinuria-external cause | Hemoglobinuria-hemol. | Parox. noct. hemoglobinuria | Paroxysmal nocturnal hemoglobinuria | Paroxysmal nocturnal haemoglobinuria | Parox. noct. haemoglobinuria | Haemoglobinuria - external causation | Haemoglobinuria-external cause | Haemoglobinuria-haemol. | Haemoglobinuria: [external cause] or [haemolytic] or [paroxysmal nocturnal] (disorder) | Paroxysmal nocturnal hemoglobinuria | Marchiafava-Micheli syndrome | Paroxysmal nocturnal haemoglobinuria | Paroxysmal nocturnal hemoglobinuria (disorder) | PNH - paroxysmal nocturnal hemoglobinuria | PNH - paroxysmal nocturnal haemoglobinuria,SNOMEDCT ID:154805009 | SNOMEDCT ID:267559009 | SNOMEDCT ID:1963002,,,paroxysmal nocturnal hemoglobinuria,MONDO:0100244,,,paroxysmal nocturnal hemoglobinuria,DOID:0060284,, +BMGC_DS01535,BMG_DS001936,Marfan Syndrome,UMLS ID:C0024796,,,,,Marfan syndrome,MONDO:0007947,Marfan Syndrome,MeSH ID:D008382,Marfan syndrome,DOID:14323,,OMIM ID:154700 +BMGC_DS01536,BMG_DS001938,,UMLS ID:C0024809,,,,,,,,,cannabis abuse,DOID:9505,, +BMGC_DS01537,BMG_DS001939,Marinesco-Sjogren syndrome,UMLS ID:C0024814,Marinesco-Sjogren syndrome | Oligophrenic cerebellolenticular degeneration | Marinesco-Sjögren syndrome (disorder) | Marinesco-Sjögren syndrome | (Marinesco-Sjogren syndrome) or (disorder of metabolism NOS) | Disorder of metabolism NOS | Marinesco Sjogren syndrome | Marinesco-Sjogren syndrome | (Marinesco-Sjogren syndrome) or (disorder of metabolism NOS) (disorder),SNOMEDCT ID:80734006 | SNOMEDCT ID:190961002,,,Marinesco-Sjogren syndrome,MONDO:0009567,,,,,,OMIM ID:248800 +BMGC_DS01538,BMG_DS001940,Mastitis,UMLS ID:C0024894,"Inflammatory breast disease (& [abscess, non puerperal] or [mastitis (& non puerperal)]) | Mastitis | Non-puerperal mastitis | Inflammatory breast disease | Abscess, breast, non puerperal | Breast abscess - non puerperal | Mastitis - non puerperal | Inflammatory breast disease (& [abscess, non puerperal] or [mastitis (& non puerperal)]) (disorder) | Inflammatory disease of breast (& [mastitis]) | Inflammatory disorder of breast | Mastitis | Inflammatory disease of breast | Inflammatory disease of breast (& [mastitis]) (disorder) | Mastitis | Mastitis (disorder) | Inflammatory disease of breast (& [mastitis]) | Mastitis | Inflammatory disorder of breast | Inflammatory disease of breast | Inflammatory disease of breast (& [mastitis]) (disorder)",SNOMEDCT ID:198099006 | SNOMEDCT ID:266641007 | SNOMEDCT ID:45198002 | SNOMEDCT ID:155952005,,,mastitis,MONDO:0006849,Mastitis,MeSH ID:D008413,mastitis,DOID:10690,, +BMGC_DS01539,BMG_DS001943,,UMLS ID:C0024899,,,,,mastocytosis,MONDO:0007950,,,mastocytosis,DOID:350,, +BMGC_DS01540,BMG_DS001944,"Mastocytosis, Bullous",UMLS ID:C0024900,,,,,,,"Mastocytosis, Cutaneous",MeSH ID:D034701,,,, +BMGC_DS01541,BMG_DS001945,,UMLS ID:C0024901,,,,,diffuse cutaneous mastocytosis,MONDO:0019315,,,diffuse cutaneous mastocytosis,DOID:3665,, +BMGC_DS01542,BMG_DS001946,Mastoiditis,UMLS ID:C0024904,Mastoiditis | Mastoiditis (disorder),SNOMEDCT ID:155230007 | SNOMEDCT ID:52404001,,,mastoiditis,MONDO:0000748,Mastoiditis,MeSH ID:D008417,mastoiditis,DOID:0060322,,OMIM ID:MTHU005996 +BMGC_DS01543,BMG_DS001947,Maxillary Diseases,UMLS ID:C0024950,,,,,,,Maxillary Diseases,MeSH ID:D008439,,,, +BMGC_DS01544,BMG_DS001948,,UMLS ID:C0024954,,,,,maxillary neoplasm,MONDO:0005841,,,maxillary cancer,DOID:4618,, +BMGC_DS01545,BMG_DS001949,,UMLS ID:C0024958,,,,,maxillary sinus neoplasm,MONDO:0006850,,,maxillary sinus benign neoplasm,DOID:1358,, +BMGC_DS01546,BMG_DS001950,Maxillary Sinusitis,UMLS ID:C0024959,,,,,maxillary sinusitis,MONDO:0005842,Maxillary Sinusitis,MeSH ID:D015523,maxillary sinusitis,DOID:2051,, +BMGC_DS01547,BMG_DS001951,Measles,UMLS ID:C0025007,Measles | Rubeola | Morbilli | Measles (disorder) | Measles | Measles (disorder),SNOMEDCT ID:14189004 | SNOMEDCT ID:154338006,,,measles,MONDO:0004619,Measles,MeSH ID:D008457,measles,DOID:8622,ICD10 ID:B05, +BMGC_DS01548,BMG_DS001952,,UMLS ID:C0025037,,,,,Meckel diverticulum,MONDO:0007955,,,Meckel's diverticulum,DOID:9487,,OMIM ID:155140 +BMGC_DS01549,BMG_DS001953,Meconium Aspiration Syndrome,UMLS ID:C0025048,,,,,meconium aspiration syndrome,MONDO:0006851,Meconium Aspiration Syndrome,MeSH ID:D008471,meconium aspiration syndrome,DOID:11049,, +BMGC_DS01550,BMG_DS001956,Mediastinal Emphysema,UMLS ID:C0025062,,,,,,,Mediastinal Emphysema,MeSH ID:D008478,,,, +BMGC_DS01551,BMG_DS001957,,UMLS ID:C0025063,,,,,neoplasm of mediastinum,MONDO:0021386,,,mediastinal cancer,DOID:5559,, +BMGC_DS01552,BMG_DS001958,Mediastinitis,UMLS ID:C0025064,Inflammatory disorder of mediastinum (disorder) | Inflammatory disorder of mediastinum | Mediastinitis | Mediastinitis | Mediastinitis (disorder),SNOMEDCT ID:373409004 | SNOMEDCT ID:47597000,,,mediastinitis,MONDO:0004492,Mediastinitis,MeSH ID:D008480,mediastinitis,DOID:819,ICD10 ID:J98.51, +BMGC_DS01553,BMG_DS001959,,UMLS ID:C0025149,,,,,medulloblastoma,MONDO:0007959,,,medulloblastoma,DOID:0050902,,OMIM ID:155255 +BMGC_DS01554,BMG_DS001960,,UMLS ID:C0025160,,,,,megacolon,MONDO:0001273,,,megacolon,DOID:11372,, +BMGC_DS01555,BMG_DS001961,"Megacolon, Toxic",UMLS ID:C0025162,,,,,toxic megacolon,MONDO:0002105,"Megacolon, Toxic",MeSH ID:D008532,toxic megacolon,DOID:1770,, +BMGC_DS01556,BMG_DS001962,Megaesophagus,UMLS ID:C0025164,Megaesophagus | Megaoesophagus | Megaesophagus (disorder),SNOMEDCT ID:70667005,,,megaesophagus,MONDO:0001656,Esophageal Achalasia,MeSH ID:D004931,megaesophagus,DOID:13186,, +BMGC_DS01557,BMG_DS001963,Meige Syndrome,UMLS ID:C0025183,,,,,blepharospasm-oromandibular dystonia syndrome,MONDO:0019772,Meige Syndrome,MeSH ID:D008538,Meige syndrome,DOID:3982,, +BMGC_DS01558,BMG_DS001965,,UMLS ID:C0025193,,,,,melancholia,MONDO:0002444,,,,,, +BMGC_DS01559,BMG_DS001966,,UMLS ID:C0025202,,,,,melanoma,MONDO:0005105,,,melanoma,DOID:1909,, +BMGC_DS01560,BMG_DS001967,Melanosis,UMLS ID:C0025209,Lentigo | Freckles | Dyschromia NOS | Melanosis | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Dyschromia NOS | Freckles | Melanosis | Lentigo | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) | (Dyschromia NOS) or (freckles) or (lentigo) or (melanosis) (disorder) | Melanosis | Melanosis (morphologic abnormality) | Melanosis (disorder) | Melanosis,SNOMEDCT ID:267870007 | SNOMEDCT ID:156438005 | SNOMEDCT ID:48010006 | SNOMEDCT ID:414662006,,,,,Melanosis,MeSH ID:D008548,,,, +BMGC_DS01561,BMG_DS001969,Chloasma,UMLS ID:C0025218,Chloasma | Melasma | Chloasma (disorder),SNOMEDCT ID:36209000,Melasma,ICD11 ID:ED60.1,,,Melanosis,MeSH ID:D008548,,,ICD10 ID:L81.1, +BMGC_DS01562,BMG_DS001970,Meleda Disease,UMLS ID:C0025221,,,,,mal de Meleda,MONDO:0009552,"Keratoderma, Palmoplantar",MeSH ID:D007645,,,,OMIM ID:248300 +BMGC_DS01563,BMG_DS001971,Melioidosis,UMLS ID:C0025229,Melioidosis (disorder) | Infection due to Burkholderia pseudomallei | Infection due to Whitmore's bacillus | Infection due to Pseudomonas pseudomallei | Melioidosis | Whitmore's disease | Infection due to Malleomyces pseudomallei | Pseudoglanders | Melioidosis | Infection due to Pseudomonas pseudomallei | Infection due to Malleomyces pseudomallei | Infection due to Whitmore's bacillus | Whitmore's disease | Pseudoglanders (disorder),SNOMEDCT ID:428111003 | SNOMEDCT ID:34458001,,,melioidosis,MONDO:0017775,Melioidosis,MeSH ID:D008554,melioidosis,DOID:5052,, +BMGC_DS01564,BMG_DS001972,Melkersson-Rosenthal Syndrome,UMLS ID:C0025235,,,,,Melkersson-Rosenthal syndrome,MONDO:0007969,Melkersson-Rosenthal Syndrome,MeSH ID:D008556,Melkersson-Rosenthal syndrome,DOID:1761,,OMIM ID:155900 +BMGC_DS01565,BMG_DS001973,Melnick-Needles Syndrome,UMLS ID:C0025237,,,,,Melnick-Needles syndrome,MONDO:0010650,Osteochondrodysplasias,MeSH ID:D010009,Melnick-Needles syndrome,DOID:0111788,,OMIM ID:309350 +BMGC_DS01566,BMG_DS001974,Melorheostosis,UMLS ID:C0025239,Melorheostosis | Melorheostosis (disorder) | Melorheostosis | Rheostosis | Leri's disease | Candle wax disease | Flowing hyperostosis | Osteopathia hyperostotica congenita | Melorheostosis (disorder),SNOMEDCT ID:240173003 | SNOMEDCT ID:44697002,,,,,Melorheostosis,MeSH ID:D008557,melorheostosis,DOID:4253,,OMIM ID:MTHU041350 +BMGC_DS01567,BMG_DS001975,,UMLS ID:C0025267,,,,,multiple endocrine neoplasia type 1,MONDO:0007540,,,multiple endocrine neoplasia type 1,DOID:10017,,OMIM ID:131100 +BMGC_DS01568,BMG_DS001976,,UMLS ID:C0025268,,,,,multiple endocrine neoplasia type 2A,MONDO:0008234,,,multiple endocrine neoplasia type 2A,DOID:0050430,,OMIM ID:171400 +BMGC_DS01569,BMG_DS001977,,UMLS ID:C0025269,,,,,multiple endocrine neoplasia type 2B,MONDO:0008082,,,multiple endocrine neoplasia type 2B,DOID:10016,,OMIM ID:162300 +BMGC_DS01570,BMG_DS001978,Meniere Disease,UMLS ID:C0025281,,,,,Meniere disease,MONDO:0007972,Meniere Disease,MeSH ID:D008575,Meniere's disease,DOID:9849,,OMIM ID:156000 +BMGC_DS01571,BMG_DS001979,,UMLS ID:C0025284,,,,,tumor of meninges,MONDO:0016743,,,,,, +BMGC_DS01572,BMG_DS001980,,UMLS ID:C0025286,,,,,meningioma,MONDO:0016642,,,meningioma,DOID:3565,, +BMGC_DS01573,BMG_DS001981,Meningitis,UMLS ID:C0025289,Meningitis | Meningitis (disorder),SNOMEDCT ID:7180009 | SNOMEDCT ID:154983000,,,meningitis,MONDO:0021108,Meningitis,MeSH ID:D008581,meningitis,DOID:9471,,OMIM ID:MTHU005994 +BMGC_DS01574,BMG_DS001982,Aseptic Meningitis,UMLS ID:C0025290,,,,,aseptic meningitis,MONDO:0006662,"Meningitis, Aseptic",MeSH ID:D008582,aseptic meningitis,DOID:12157,, +BMGC_DS01575,BMG_DS001983,"Meningitis, Haemophilus",UMLS ID:C0025292,,,,,haemophilus meningitis,MONDO:0000889,"Meningitis, Haemophilus",MeSH ID:D008583,haemophilus meningitis,DOID:0080179,, +BMGC_DS01576,BMG_DS001984,"Meningitis, Listeria",UMLS ID:C0025293,,,,,Listeria meningitis,MONDO:0006836,"Meningitis, Listeria",MeSH ID:D008584,Listeria meningitis,DOID:11572,, +BMGC_DS01577,BMG_DS001985,Meningococcal meningitis,UMLS ID:C0025294,Meningococcal meningitis | Meningococcal meningitis (disorder) | Epidemic meningitis | Cerebrospinal meningitis | Meningococcal meningitis | Meningococcal meningitis (disorder) | Meningococcal cerebrospinal fever,SNOMEDCT ID:154307005 | SNOMEDCT ID:28476005 | SNOMEDCT ID:186363003 | SNOMEDCT ID:192644005,Meningococcal meningitis,ICD11 ID:1C1C.0,meningococcal meningitis,MONDO:0018059,,,,,ICD10 ID:A39.0, +BMGC_DS01578,BMG_DS001986,"Meningitis, Pneumococcal",UMLS ID:C0025295,,,,,pneumococcal meningitis,MONDO:0006913,"Meningitis, Pneumococcal",MeSH ID:D008586,,,, +BMGC_DS01579,BMG_DS001987,Viral meningitis,UMLS ID:C0025297,"Other CNS viral disease | Other central nervous system viral disease | Viral encephalitis | Encephalitis - viral | Viral meningitis | Meningitis - viral NOS | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] (disorder) | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] | Other CNS viral disease | Encephalitis - viral | Viral encephalitis | Meningitis - viral NOS | Viral meningitis | Other central nervous system viral disease | Viral: [other CNS disease] or [encephalitis] or [meningitis (& [NOS])] (disorder) | Meningitis: [bacterial] or [viral] | Bacterial meningitis | Viral meningitis | Meningitis: [bacterial] or [viral] (disorder) | Viral meningitis | Bacterial meningitis | Meningitis: [bacterial] or [viral] | Meningitis: [bacterial] or [viral] (disorder) | Viral meningitis | Viral meningitis (disorder) | Viral meningitis | Aseptic meningitis, viral | Abacterial meningitis | Viral meningitis (disorder) | Meningitis, viral",SNOMEDCT ID:154321007 | SNOMEDCT ID:266190006 | SNOMEDCT ID:154984006 | SNOMEDCT ID:267680008 | SNOMEDCT ID:154985007 | SNOMEDCT ID:58170007,,,viral meningitis,MONDO:0007015,,,viral meningitis,DOID:10310,ICD10 ID:A87, +BMGC_DS01580,BMG_DS001988,Meningocele,UMLS ID:C0025299,Congenital meningocele | Congenital meningocele (disorder) | (Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) | Meningocele | Myelocele | Spina bifida -no hydrocephalus | (Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) (disorder) | Spina bifida -no hydrocephalus | Meningocele | Myelocele | (Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) | (Spina bifida - no hydrocephalus) or (meningocele) or (myelocele) (disorder) | Meningocele | Meningocele (disorder),SNOMEDCT ID:32941003 | SNOMEDCT ID:268308005 | SNOMEDCT ID:156890007 | SNOMEDCT ID:171131006,,,meningocele,MONDO:0001147,,,meningocele,DOID:1088,,OMIM ID:MTHU049652 +BMGC_DS01581,BMG_DS001989,Meningococcal Infections,UMLS ID:C0025303,,,,,meningococcal infection,MONDO:0005373,Meningococcal Infections,MeSH ID:D008589,,,, +BMGC_DS01582,BMG_DS001990,Meningococcal Septicemia,UMLS ID:C0025306,,,,,meningococcemia,MONDO:0042972,Meningococcal Infections,MeSH ID:D008589,,,, +BMGC_DS01583,BMG_DS001991,Meningoencephalitis,UMLS ID:C0025309,Meningoencephalitis | Meningoencephalitis (disorder),SNOMEDCT ID:7125002,,,meningoencephalitis,MONDO:0005845,Meningoencephalitis,MeSH ID:D008590,meningoencephalitis,DOID:10554,ICD10 ID:A69.22,OMIM ID:MTHU037268 +BMGC_DS01584,BMG_DS001994,,UMLS ID:C0025312,,,,,myelomeningocele,MONDO:0019773,,,myelomeningocele,DOID:0060326,, +BMGC_DS01585,BMG_DS001995,Menopausal syndrome,UMLS ID:C0025319,Menopausal syndrome | Menopausal syndrome (disorder),SNOMEDCT ID:123756000,,,,,,,,,, +BMGC_DS01586,BMG_DS001996,Premature Menopause,UMLS ID:C0025322,,,,,premature menopause,MONDO:0001119,"Menopause, Premature",MeSH ID:D008594,premature menopause,DOID:10787,, +BMGC_DS01587,BMG_DS001997,"Menstruation, Retrograde",UMLS ID:C0025349,,,,,,,Menstruation Disturbances,MeSH ID:D008599,,,, +BMGC_DS01588,BMG_DS001998,,UMLS ID:C0025362,,,,,,,,,intellectual disability,DOID:1059,, +BMGC_DS01589,BMG_DS001999,,UMLS ID:C0025464,,,,,mesenchymoma,MONDO:0006854,,,mesenchymoma,DOID:2668,, +BMGC_DS01590,BMG_DS002000,Mesenteric Lymphadenitis,UMLS ID:C0025469,,,,,mesenteric lymphadenitis,MONDO:0001116,Mesenteric Lymphadenitis,MeSH ID:D008640,mesenteric lymphadenitis,DOID:10782,, +BMGC_DS01591,BMG_DS002002,Mesenteric Vascular Occlusion,UMLS ID:C0025472,,,,,mesenteric vascular occlusion,MONDO:0006855,Mesenteric Vascular Occlusion,MeSH ID:D008641,mesenteric vascular occlusion,DOID:13252,, +BMGC_DS01592,BMG_DS002003,,UMLS ID:C0025490,,,,,mesonephric adenocarcinoma,MONDO:0005613,,,clear cell adenocarcinoma,DOID:4468,, +BMGC_DS01593,BMG_DS002004,,UMLS ID:C0025500,,,,,mesothelioma,MONDO:0005065,,,benign mesothelioma,DOID:2645,, +BMGC_DS01594,BMG_DS002005,Metabolic Diseases,UMLS ID:C0025517,,,,,metabolic disease,MONDO:0005066,Metabolic Diseases,MeSH ID:D008659,disease of metabolism,DOID:0014667,, +BMGC_DS01595,BMG_DS002006,Inborn Errors of Metabolism,UMLS ID:C0025521,,,,,inborn errors of metabolism,MONDO:0019052,"Metabolism, Inborn Errors",MeSH ID:D008661,inherited metabolic disorder,DOID:655,, +BMGC_DS01596,BMG_DS002007,Metagonimiasis,UMLS ID:C0025530,Infection by Metagonimus yokogawai | Metagonimiasis | Metagonimosis | Infection caused by Metagonimus yokogawai | Infection caused by Metagonimus yokogawai (disorder),SNOMEDCT ID:37832003,"Diseases due to trematodes, unspecified",ICD11 ID:1F8Z,metagonimiasis,MONDO:0004666,Trematode Infections,MeSH ID:D014201,metagonimiasis,DOID:884,ICD10 ID:B66.8, +BMGC_DS01597,BMG_DS002008,"Metal Metabolism, Inborn Errors",UMLS ID:C0025534,,,,,inborn metal metabolism disorder,MONDO:0004689,"Metal Metabolism, Inborn Errors",MeSH ID:D008664,metal metabolism disorder,DOID:896,, +BMGC_DS01598,BMG_DS002009,Methemoglobinemia,UMLS ID:C0025637,Methaemoglobinaemia | Methemoglobinemia | Methaemoglobinaemia (disorder) | (Methemoglobinemia) or (Stokvis' disease) or (sulfemoglobinemia) | Stokvis' disease | Methemoglobinemia | Sulfemoglobinemia | Sulphaemoglobinaemia | Methaemoglobinaemia | (Methaemoglobinaemia) or (Stokvis' disease) or (sulphaemoglobinaemia) | (Methaemoglobinaemia) or (Stokvis' disease) or (sulphaemoglobinaemia) (disorder) | Methemoglobinemia | Methaemoglobinaemia | Methemoglobinemia (disorder),SNOMEDCT ID:267549008 | SNOMEDCT ID:191386007 | SNOMEDCT ID:38959009,,,methemoglobinemia,MONDO:0001117,Methemoglobinemia,MeSH ID:D008708,methemoglobinemia,DOID:10783,ICD10 ID:D74,OMIM ID:MTHU039706 +BMGC_DS01599,BMG_DS002010,"Microangiopathy, Diabetic",UMLS ID:C0025945,,,,,,,Diabetic Angiopathies,MeSH ID:D003925,,,, +BMGC_DS01600,BMG_DS002011,,UMLS ID:C0025958,,,,,isolated congenital microcephaly,MONDO:0016056,,,microcephaly,DOID:10907,, +BMGC_DS01601,BMG_DS002012,,UMLS ID:C0026010,,,,,microphthalmia,MONDO:0021129,,,microphthalmia,DOID:10629,, +BMGC_DS01602,BMG_DS002013,Middle Lobe Syndrome,UMLS ID:C0026069,,,,,middle lobe syndrome,MONDO:0005847,Middle Lobe Syndrome,MeSH ID:D008878,middle lobe syndrome,DOID:2810,, +BMGC_DS01603,BMG_DS002014,Mikulicz Disease,UMLS ID:C0026103,,,,,IgG4-related dacryoadenitis and sialadenitis,MONDO:0019191,Mikulicz' Disease,MeSH ID:D008882,Mikulicz disease,DOID:12900,, +BMGC_DS01604,BMG_DS002015,Miliaria,UMLS ID:C0026113,Miliaria | Miliaria (disorder),SNOMEDCT ID:63951004,,,miliaria,MONDO:0006580,Miliaria,MeSH ID:D008883,miliaria,DOID:1382,, +BMGC_DS01605,BMG_DS002017,Milk-Alkali Syndrome,UMLS ID:C0026141,,,,,calcium-alkali syndrome,MONDO:0400002,Hypercalcemia,MeSH ID:D006934,,,, +BMGC_DS01606,BMG_DS002018,Milker's Nodes,UMLS ID:C0026143,,,,,milker's nodule,MONDO:0005850,Poxviridae Infections,MeSH ID:D011213,milker's nodule,DOID:8729,, +BMGC_DS01607,BMG_DS002019,Mite Infestations,UMLS ID:C0026229,,,,,mite infestation,MONDO:0004389,Mite Infestations,MeSH ID:D008924,mite infestation,DOID:7894,, +BMGC_DS01608,BMG_DS002020,,UMLS ID:C0026265,,,,,mitral valve disorder,MONDO:0003767,,,mitral valve disease,DOID:61,, +BMGC_DS01609,BMG_DS002021,Mitral Valve Insufficiency,UMLS ID:C0026266,,,,,mitral valve insufficiency,MONDO:1030008,Mitral Valve Insufficiency,MeSH ID:D008944,mitral valve insufficiency,DOID:11502,, +BMGC_DS01610,BMG_DS002022,Mitral Valve Prolapse Syndrome,UMLS ID:C0026267,,,,,mitral valve prolapse,MONDO:0004910,Mitral Valve Prolapse,MeSH ID:D008945,mitral valve prolapse,DOID:988,, +BMGC_DS01611,BMG_DS002023,Mitral Valve Stenosis,UMLS ID:C0026269,,,,,mitral valve stenosis,MONDO:0005852,Mitral Valve Stenosis,MeSH ID:D008946,mitral valve stenosis,DOID:1754,, +BMGC_DS01612,BMG_DS002024,Mixed Connective Tissue Disease,UMLS ID:C0026272,,,,,mixed connective tissue disease,MONDO:0005854,Mixed Connective Tissue Disease,MeSH ID:D008947,mixed connective tissue disease,DOID:3492,, +BMGC_DS01613,BMG_DS002025,,UMLS ID:C0026277,,,,,,,,,pleomorphic adenoma,DOID:452,, +BMGC_DS01614,BMG_DS002026,Mohr Syndrome,UMLS ID:C0026363,,,,,orofaciodigital syndrome type II,MONDO:0009642,Orofaciodigital Syndromes,MeSH ID:D009958,orofaciodigital syndrome I,DOID:0060316,,OMIM ID:252100 +BMGC_DS01615,BMG_DS002027,Molluscum Contagiosum,UMLS ID:C0026393,,,,,molluscum contagiosum,MONDO:0005855,Molluscum Contagiosum,MeSH ID:D008976,molluscum contagiosum,DOID:8867,, +BMGC_DS01616,BMG_DS002028,Monieziasis,UMLS ID:C0026414,,,,,monieziasis,MONDO:0004755,Monieziasis,MeSH ID:D008989,monieziasis,DOID:931,, +BMGC_DS01617,BMG_DS002030,,UMLS ID:C0026470,,,,,monoclonal gammopathy of uncertain significance,MONDO:0004225,,,,,, +BMGC_DS01618,BMG_DS002031,,UMLS ID:C0026471,,,,,monoclonal paraproteinemia disease,MONDO:0002274,,,monoclonal paraproteinemia,DOID:2346,, +BMGC_DS01619,BMG_DS002033,,UMLS ID:C0026552,,,,,morphine dependence,MONDO:0005531,,,morphine dependence,DOID:2560,, +BMGC_DS01620,BMG_DS002034,Motion Sickness,UMLS ID:C0026603,,,,,motion sickness,MONDO:0008015,Motion Sickness,MeSH ID:D009041,motion sickness,DOID:2951,,OMIM ID:158280 +BMGC_DS01621,BMG_DS002035,,UMLS ID:C0026618,,,,,dental fluorosis,MONDO:0006722,,,dental fluorosis,DOID:13711,, +BMGC_DS01622,BMG_DS002036,Mouth Diseases,UMLS ID:C0026636,,,,,mouth disorder,MONDO:0006858,Mouth Diseases,MeSH ID:D009059,mouth disease,DOID:403,, +BMGC_DS01623,BMG_DS002037,,UMLS ID:C0026640,,,,,oral cavity neoplasm,MONDO:0021245,,,,,, +BMGC_DS01624,BMG_DS002038,Movement Disorders,UMLS ID:C0026650,,,,,movement disorder,MONDO:0005395,Movement Disorders,MeSH ID:D009069,movement disease,DOID:480,, +BMGC_DS01625,BMG_DS002039,Moyamoya Disease,UMLS ID:C0026654,,,,,Moyamoya disease,MONDO:0016820,Moyamoya Disease,MeSH ID:D009072,Moyamoya disease,DOID:13099,, +BMGC_DS01626,BMG_DS002040,Mucocele of appendix,UMLS ID:C0026684,Mucocele of appendix | Mucocele of appendix (disorder) | Appendicular mucocele | Mucocoele of appendix,SNOMEDCT ID:53773002,,,mucocele of appendix,MONDO:0001671,,,mucocele of appendix,DOID:13248,, +BMGC_DS01627,BMG_DS002041,,UMLS ID:C0026686,,,,,mucocele of salivary gland,MONDO:0001600,,,mucocele of salivary gland,DOID:12904,, +BMGC_DS01628,BMG_DS002042,Mucocutaneous Lymph Node Syndrome,UMLS ID:C0026691,,,,,mucocutaneous lymph node syndrome,MONDO:0012727,Mucocutaneous Lymph Node Syndrome,MeSH ID:D009080,Kawasaki disease,DOID:13378,,OMIM ID:611775 +BMGC_DS01629,BMG_DS002043,Mucolipidoses,UMLS ID:C0026697,,,,,mucolipidosis,MONDO:0019248,Mucolipidoses,MeSH ID:D009081,glycoproteinosis,DOID:3343,, +BMGC_DS01630,BMG_DS002044,Mucopolysaccharidoses,UMLS ID:C0026703,,,,,mucopolysaccharidosis,MONDO:0019249,Mucopolysaccharidoses,MeSH ID:D009083,mucopolysaccharidosis,DOID:12798,, +BMGC_DS01631,BMG_DS002045,Mucopolysaccharidosis II,UMLS ID:C0026705,,,,,mucopolysaccharidosis type 2,MONDO:0010674,Mucopolysaccharidosis II,MeSH ID:D016532,mucopolysaccharidosis II,DOID:12799,,OMIM ID:309900 +BMGC_DS01632,BMG_DS002046,Mucopolysaccharidosis III,UMLS ID:C0026706,,,,,mucopolysaccharidosis type 3,MONDO:0018937,Mucopolysaccharidosis III,MeSH ID:D009084,mucopolysaccharidosis III,DOID:12801,, +BMGC_DS01633,BMG_DS002047,Mucopolysaccharidosis IV,UMLS ID:C0026707,,,,,mucopolysaccharidosis type 4,MONDO:0018938,Mucopolysaccharidosis IV,MeSH ID:D009085,mucopolysaccharidosis IV,DOID:12804,, +BMGC_DS01634,BMG_DS002048,Mucopolysaccharidosis V,UMLS ID:C0026708,,,,,Scheie syndrome,MONDO:0011760,Mucopolysaccharidosis I,MeSH ID:D008059,,,,OMIM ID:607016 +BMGC_DS01635,BMG_DS002049,Mucopolysaccharidosis VI,UMLS ID:C0026709,,,,,mucopolysaccharidosis type 6,MONDO:0009661,Mucopolysaccharidosis VI,MeSH ID:D009087,mucopolysaccharidosis VI,DOID:12800,,OMIM ID:253200 +BMGC_DS01636,BMG_DS002050,Mucormycosis,UMLS ID:C0026718,Mucormycosis | Mucormycosis (disorder) | Zygomycosis (& [mucormycosis]) | Zygomycosis | Phycomycosis | Mucormycosis | Zygomycosis (& [mucormycosis]) (disorder),SNOMEDCT ID:76627001 | SNOMEDCT ID:187098003,,,,,Mucormycosis,MeSH ID:D009091,mucormycosis,DOID:8485,, +BMGC_DS01637,BMG_DS002051,Multiple Carboxylase Deficiency,UMLS ID:C0026755,,,,,multiple carboxylase deficiency,MONDO:0015454,Multiple Carboxylase Deficiency,MeSH ID:D009100,multiple carboxylase deficiency,DOID:857,, +BMGC_DS01638,BMG_DS002052,,UMLS ID:C0026760,,,,,multiple epiphyseal dysplasia,MONDO:0016648,,,multiple epiphyseal dysplasia,DOID:12721,, +BMGC_DS01639,BMG_DS002053,,UMLS ID:C0026764,,,,,plasma cell myeloma,MONDO:0009693,,,multiple myeloma,DOID:9538,,OMIM ID:254500 +BMGC_DS01640,BMG_DS002054,Multiple Organ Failure,UMLS ID:C0026766,,,,,multiple organ dysfunction syndrome,MONDO:0043726,Multiple Organ Failure,MeSH ID:D009102,,,, +BMGC_DS01641,BMG_DS002055,Multiple Sclerosis,UMLS ID:C0026769,,,,,multiple sclerosis,MONDO:0005301,Multiple Sclerosis,MeSH ID:D009103,multiple sclerosis,DOID:2377,, +BMGC_DS01642,BMG_DS002056,,UMLS ID:C0026773,,,,,multiple personality disorder,MONDO:0001159,,,multiple personality disorder,DOID:10934,, +BMGC_DS01643,BMG_DS002057,Mumps,UMLS ID:C0026780,Mumps | Mumps (disorder),SNOMEDCT ID:154352008 | SNOMEDCT ID:36989005,,,mumps infectious disease,MONDO:0000989,Mumps,MeSH ID:D009107,mumps,DOID:10264,ICD10 ID:B26, +BMGC_DS01644,BMG_DS002058,,UMLS ID:C0026846,,,,,,,,,muscular atrophy,DOID:767,, +BMGC_DS01645,BMG_DS002059,Spinal Muscular Atrophy,UMLS ID:C0026847,,,,,spinal muscular atrophy,MONDO:0001516,"Muscular Atrophy, Spinal",MeSH ID:D009134,spinal muscular atrophy,DOID:12377,, +BMGC_DS01646,BMG_DS002060,Myopathy,UMLS ID:C0026848,Muscular dystrophy/myopathies | Myopathy | Muscular dystrophy &/or myopathies | Muscular dystrophy &/or myopathies (disorder) | Myopathy | Myopathic syndrome | Myopathic disease | Myopathy (disorder) | Myopathy | Muscular dystrophy/myopathies | Muscular dystrophy &/or myopathies | Muscular dystrophy &/or myopathies (disorder) | Disorder of muscle | Disorder of skeletal AND/OR smooth muscle (disorder) | Myopathic disease | Myopathy | Disorder of skeletal AND/OR smooth muscle,SNOMEDCT ID:155094005 | SNOMEDCT ID:52794005 | SNOMEDCT ID:267711006 | SNOMEDCT ID:129565002,,,myopathy | muscle tissue disorder,MONDO:0005336;MONDO:0003939,Muscular Diseases,MeSH ID:D009135,myopathy,DOID:423,,OMIM ID:MTHU003653 +BMGC_DS01647,BMG_DS002062,Muscular Dystrophy,UMLS ID:C0026850,,,,,muscular dystrophy,MONDO:0020121,Muscular Dystrophies,MeSH ID:D009136,muscular dystrophy,DOID:9884,, +BMGC_DS01648,BMG_DS002063,"Muscular Dystrophy, Animal",UMLS ID:C0026851,,,,,"muscular dystrophy, non-human animal",MONDO:0024965,"Muscular Dystrophy, Animal",MeSH ID:D009137,,,, +BMGC_DS01649,BMG_DS002064,Musculoskeletal Diseases,UMLS ID:C0026857,,,,,musculoskeletal system disorder,MONDO:0002081,Musculoskeletal Diseases,MeSH ID:D009140,musculoskeletal system disease,DOID:17,, +BMGC_DS01650,BMG_DS002065,Mutism,UMLS ID:C0026884,Mutism | Muteness | Mutism (finding) | Mutism | Deaf mutism NOS | (Mutism) or (deaf mutism NOS) | (Mutism) or (deaf mutism NOS) (disorder),SNOMEDCT ID:88052002 | SNOMEDCT ID:267771000,,,mutism,MONDO:0002905,Mutism,MeSH ID:D009155,mutism,DOID:4189,,OMIM ID:MTHU001337 +BMGC_DS01651,BMG_DS002066,Myasthenia Gravis,UMLS ID:C0026896,,,,,myasthenia gravis,MONDO:0009688,Myasthenia Gravis,MeSH ID:D009157,myasthenia gravis,DOID:437,,OMIM ID:254200 +BMGC_DS01652,BMG_DS002068,Mycobacterium avium-intracellulare Infection,UMLS ID:C0026916,,,,,Mycobacterium avium complex disease,MONDO:0005866,Mycobacterium avium-intracellulare Infection,MeSH ID:D015270,Mycobacterium avium complex disease,DOID:2755,, +BMGC_DS01653,BMG_DS002069,Mycobacterium Infections,UMLS ID:C0026918,,,,,mycobacterial infectious disease,MONDO:0020590,Mycobacterium Infections,MeSH ID:D009164,,,, +BMGC_DS01654,BMG_DS002070,"Mycobacterium Infections, Nontuberculous",UMLS ID:C0026919,,,,,,,"Mycobacterium Infections, Nontuberculous",MeSH ID:D009165,,,, +BMGC_DS01655,BMG_DS002071,Mycoplasma Infections,UMLS ID:C0026936,,,,,,,Mycoplasma Infections,MeSH ID:D009175,,,, +BMGC_DS01656,BMG_DS002073,Mycoses,UMLS ID:C0026946,(Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | Fungal infection | Dermatophytosis | Tinea | Fungal infections | Mycoses | Ringworm | Dermatophytosis-tinea/ringworm | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Mycoses | Mycoses (disorder) | Ringworm | Mycoses | Dermatophytosis-tinea/ringworm | Tinea | Fungal infection | Dermatophytosis | Fungal infections | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Mycosis | Fungal infection | Disease caused by fungus | Fungal infectious disease | Fungus infection | Mycoses | Mycosis (disorder) | Mycotic disease,SNOMEDCT ID:154394006 | SNOMEDCT ID:187472001 | SNOMEDCT ID:154393000 | SNOMEDCT ID:266214005 | SNOMEDCT ID:3218000,,,fungal infectious disease,MONDO:0002041,Mycoses,MeSH ID:D009181,fungal infectious disease,DOID:1564,, +BMGC_DS01657,BMG_DS002074,,UMLS ID:C0026948,,,,,mycosis fungoides,MONDO:0009691,,,mycosis fungoides,DOID:8691,,OMIM ID:254400 +BMGC_DS01658,BMG_DS002075,Myelitis,UMLS ID:C0026975,"Myelitis | Encephalitis | Encephalitis/myelitis | Encephalitis &/or myelitis | Encephalitis &/or myelitis (disorder) | Myelitis | Myelitis (disorder) | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis | Encephalitis, myelitis and encephalomyelitis | Transverse myelitis | Myelitis | Encephalomyelitis | Encephalitis &/or myelitis &/or encephalomyelitis &/or transverse myelitis (disorder)",SNOMEDCT ID:267682000 | SNOMEDCT ID:41370002 | SNOMEDCT ID:192682002,,,myelitis,MONDO:0002565,Myelitis,MeSH ID:D009187,myelitis,DOID:322,, +BMGC_DS01659,BMG_DS002076,"Myelitis, Transverse",UMLS ID:C0026976,,,,,transverse myelitis,MONDO:0021553,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS01660,BMG_DS002077,,UMLS ID:C0026987,,,,,myelofibrosis,MONDO:0044903,,,myelofibrosis,DOID:4971,, +BMGC_DS01661,BMG_DS002078,,UMLS ID:C0026998,,,,,acute myeloblastic leukemia without maturation,MONDO:0005224,,,acute myeloid leukemia without maturation,DOID:0081086,, +BMGC_DS01662,BMG_DS002079,,UMLS ID:C0027022,,,,,,,,,bone marrow cancer,DOID:4960,, +BMGC_DS01663,BMG_DS002080,Myiasis,UMLS ID:C0027030,(Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | Myiasis | Toxoplasmosis | Other infectious and parasitic diseases | Maggot infestation | Leech infestation | Other infect. and parasit.dis. | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Maggot infestation | Myiasis | Toxoplasmosis | Leech infestation | Other infectious and parasitic diseases | Other infect. and parasit.dis. | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Infestation by fly larvae | Infestation by maggots | Myiasis | Myiasis - fly larvae infestation | Fly larva infestation | Infestation caused by fly larvae (disorder) | Infestation caused by maggots | Infestation caused by fly larvae,SNOMEDCT ID:266225001 | SNOMEDCT ID:154423006 | SNOMEDCT ID:60412004,,,myiasis,MONDO:0019147,Myiasis,MeSH ID:D009198,myiasis,DOID:11080,ICD10 ID:B87, +BMGC_DS01664,BMG_DS002086,,UMLS ID:C0027043,,,,,benign granular cell tumor,MONDO:0003250,,,myoblastoma,DOID:5039,, +BMGC_DS01665,BMG_DS002087,Myocardial Infarction,UMLS ID:C0027051,,,,,myocardial infarction,MONDO:0005068,Myocardial Infarction,MeSH ID:D009203,myocardial infarction,DOID:5844,, +BMGC_DS01666,BMG_DS002088,Myocarditis,UMLS ID:C0027059,Myocarditis | Myocarditis (disorder) | Myocardial inflammation,SNOMEDCT ID:50920009,,,myocarditis,MONDO:0004496,Myocarditis,MeSH ID:D009205,myocarditis,DOID:820,,OMIM ID:MTHU056479 +BMGC_DS01667,BMG_DS002089,Interstitial myocarditis,UMLS ID:C0027060,Interstitial myocarditis | Interstitial myocarditis (disorder),SNOMEDCT ID:37925008,,,interstitial myocarditis,MONDO:0004485,,,interstitial myocarditis,DOID:817,, +BMGC_DS01668,BMG_DS002091,,UMLS ID:C0027070,,,,,myoepithelial tumor,MONDO:0002380,,,myoepithelioma,DOID:2661,, +BMGC_DS01669,BMG_DS002092,Myofascial Pain Syndromes,UMLS ID:C0027073,,,,,myofascial pain syndrome,MONDO:0006862,Myofascial Pain Syndromes,MeSH ID:D009209,myofascial pain syndrome,DOID:431,, +BMGC_DS01670,BMG_DS002093,,UMLS ID:C0027086,,,,,benign muscle neoplasm,MONDO:0003061,,,myoma,DOID:2691,, +BMGC_DS01671,BMG_DS002094,Myopia,UMLS ID:C0027092,Myopia | Myopia (disorder) | Myopia | Nearsightedness | Myopia (disorder) | Near sighted,SNOMEDCT ID:155133003 | SNOMEDCT ID:57190000,Myopia,ICD11 ID:9D00.0,myopia,MONDO:0001384,Myopia,MeSH ID:D009216,myopia,DOID:11830,ICD10 ID:H52.1,OMIM ID:MTHU036427 +BMGC_DS01672,BMG_DS002095,,UMLS ID:C0027095,,,,,,,,,muscle cancer,DOID:4045,, +BMGC_DS01673,BMG_DS002096,Myositis,UMLS ID:C0027121,Myositis | Myositis (disorder) | Muscle inflammation | Inflammatory disorder of muscle | Inflammatory myopathy,SNOMEDCT ID:26889001,,,myositis disease,MONDO:0021167,Myositis,MeSH ID:D009220,myositis,DOID:633,ICD10 ID:M60,OMIM ID:MTHU062042 +BMGC_DS01674,BMG_DS002097,Myositis Ossificans,UMLS ID:C0027122,,,,,myositis ossificans,MONDO:0003964,Myositis Ossificans,MeSH ID:D009221,myositis ossificans,DOID:668,, +BMGC_DS01675,BMG_DS002099,Myotonic Dystrophy,UMLS ID:C0027126,,,,,myotonic dystrophy,MONDO:0016107,Myotonic Dystrophy,MeSH ID:D009223,myotonic dystrophy type 1,DOID:11722,, +BMGC_DS01676,BMG_DS002100,Myotonia Congenita,UMLS ID:C0027127,,,,,Batten-Turner congenital myopathy | Thomsen and Becker disease,MONDO:0100468;MONDO:0009710,Myotonia Congenita,MeSH ID:D009224,myotonia congenita,DOID:2106,,OMIM ID:255300 +BMGC_DS01677,BMG_DS002101,Myotonic cataract,UMLS ID:C0027128,Myotonic cataract | Myotonic cataract (disorder),SNOMEDCT ID:64741003,,,myotonic cataract,MONDO:0004495,,,myotonic cataract,DOID:82,, +BMGC_DS01678,BMG_DS002103,Myxedema,UMLS ID:C0027145,Hypothyroidism | Acquired hypothyroidism | Thyroid deficiency | Hypothyroidism: &/or (acquired) | Myxedema | Myxoedema | Hypothyroidism: &/or (acquired) (disorder) | Myxedema | Myxoedema | Myxedema (disorder) | Cretinism | Hypothyroidism | Hypothyroidism - congenital and acquired | Hypothyroidism-congen.+ acqui. | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | Myxedema | Myxoedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder) | Hypothyroidism - congenital and acquired (& [cretinism] or [myxedema]) | Cretinism | Hypothyroidism-congen.+ acqui. | Hypothyroidism - congenital and acquired | Hypothyroidism | Myxoedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) | Myxedema | Hypothyroidism - congenital and acquired (& [cretinism] or [myxoedema]) (disorder),SNOMEDCT ID:190274003 | SNOMEDCT ID:43153006 | SNOMEDCT ID:154660000 | SNOMEDCT ID:267465007,,,myxedema,MONDO:0009718,Myxedema,MeSH ID:D009230,myxedema,DOID:11634,,OMIM ID:255900 +BMGC_DS01679,BMG_DS002106,,UMLS ID:C0027155,,,,,myxosarcoma,MONDO:0006863,,,myxosarcoma,DOID:4136,, +BMGC_DS01680,BMG_DS002109,Nail Diseases,UMLS ID:C0027339,,,,,nail disorder,MONDO:0002884,Nail Diseases,MeSH ID:D009260,nail disease,DOID:4123,, +BMGC_DS01681,BMG_DS002110,Nail-Patella Syndrome,UMLS ID:C0027341,,,,,nail-patella syndrome,MONDO:0008061,Nail-Patella Syndrome,MeSH ID:D009261,nail-patella syndrome,DOID:9467,,OMIM ID:161200 +BMGC_DS01682,BMG_DS002112,,UMLS ID:C0027402,,,,,narcissistic personality disorder,MONDO:0002411,,,narcissistic personality disorder,DOID:2745,, +BMGC_DS01683,BMG_DS002113,Narcolepsy,UMLS ID:C0027404,(CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) | CNS disorders NOS | Narcolepsy | Schilder's disease | Ondine's curse | (CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) (disorder) | Narcolepsy | Ondine's curse | Schilder's disease | CNS disorders NOS | (CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) | (CNS disorders NOS) or (narcolepsy) or (Ondine's curse) or (Schilder's disease) (disorder) | Narcolepsy | Paroxysmal sleep | Gelineau's syndrome | Narcolepsy (disorder) | Narcoleptic syndrome,SNOMEDCT ID:155059003 | SNOMEDCT ID:267702006 | SNOMEDCT ID:60380001,,,narcolepsy,MONDO:0021107,Narcolepsy,MeSH ID:D009290,narcolepsy,DOID:8986,ICD10 ID:G47.41,OMIM ID:MTHU039740 +BMGC_DS01684,BMG_DS002114,,UMLS ID:C0027430,,,,,nasal cavity polyp,MONDO:0006314,,,,,, +BMGC_DS01685,BMG_DS002116,Nasopharyngeal Diseases,UMLS ID:C0027438,,,,,nasopharyngeal disorder,MONDO:0004821,Nasopharyngeal Diseases,MeSH ID:D009302,nasopharyngeal disease,DOID:9561,, +BMGC_DS01686,BMG_DS002117,,UMLS ID:C0027439,,,,,nasopharyngeal neoplasm,MONDO:0005375,,,,,, +BMGC_DS01687,BMG_DS002118,Nasopharyngitis,UMLS ID:C0027441,Nasopharyngitis | Rhinopharyngitis | Nasopharyngitis (disorder),SNOMEDCT ID:51476001,,,nasopharyngitis,MONDO:0001040,Nasopharyngitis,MeSH ID:D009304,nasopharyngitis,DOID:10460,, +BMGC_DS01688,BMG_DS002119,,UMLS ID:C0027443,,,,,teeth present at birth,MONDO:0008532,,,,,,OMIM ID:187050 +BMGC_DS01689,BMG_DS002120,Necatoriasis,UMLS ID:C0027528,Necatoriasis | Necatorosis | Necatoriasis (disorder),SNOMEDCT ID:36667009,Necatoriasis,ICD11 ID:1F68.1,necatoriasis,MONDO:0005870,Necatoriasis,MeSH ID:D009332,necatoriasis,DOID:2790,ICD10 ID:B76.1, +BMGC_DS01690,BMG_DS002124,Necrobiosis Lipoidica,UMLS ID:C0027538,,,,,necrobiosis lipoidica,MONDO:0006583,Necrobiosis Lipoidica,MeSH ID:D009335,necrobiosis lipoidica,DOID:3486,, +BMGC_DS01691,BMG_DS002125,Avascular necrosis of bone,UMLS ID:C0027543,Avascular necrosis of bone (disorder) | Avascular necrosis of bone | AVN (avascular necrosis) of bone | Osteonecrosis | Bone necrosis | Aseptic necrosis of bone | Aseptic necrosis of bone | AVN - Avascular necrosis of bone | Osteonecrosis | Aseptic necrosis | Avascular necrosis of bone | Aseptic necrosis of bone (disorder) | Avascular necrosis of bone | Avascular necrosis of bone (disorder),SNOMEDCT ID:397758007 | SNOMEDCT ID:34686004 | SNOMEDCT ID:156837008,,,avascular necrosis,MONDO:0018373,,,osteonecrosis,DOID:10159,, +BMGC_DS01692,BMG_DS002127,,UMLS ID:C0027577,,,,,,,,,Nelson syndrome,DOID:4968,, +BMGC_DS01693,BMG_DS002129,"Infections, Nematomorpha",UMLS ID:C0027585,,,,,,,Helminthiasis,MeSH ID:D006373,,,, +BMGC_DS01694,BMG_DS002130,Neonatal Abstinence Syndrome,UMLS ID:C0027609,Neonatal withdrawal syndrome | Neonatal abstinence syndrome | Neonatal abstinence syndrome (disorder) | Neonatal withdrawal symptoms from maternal use of drugs of addiction | Substance withdrawal syndrome in neonate of dependent mother | Substance withdrawal syndrome in newborn | Neonatal substance withdrawal syndrome,SNOMEDCT ID:414819007,,,neonatal abstinence syndrome,MONDO:0005566,Neonatal Abstinence Syndrome,MeSH ID:D009357,neonatal abstinence syndrome,DOID:9828,, +BMGC_DS01695,BMG_DS002131,Neonatal dacryocystitis and conjunctivitis (disorder),UMLS ID:C0027611,Neonatal dacryocystitis and conjunctivitis | Neonatal dacryocystitis and conjunctivitis (disorder),SNOMEDCT ID:206345004,,,,,,,ophthalmia neonatorum,DOID:9699,, +BMGC_DS01696,BMG_DS002132,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities",UMLS ID:C0027612,,,,,,,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities",MeSH ID:D009358,,,, +BMGC_DS01697,BMG_DS002134,,UMLS ID:C0027651,,,,,neoplasm,MONDO:0005070,,,,,, +BMGC_DS01698,BMG_DS002135,,UMLS ID:C0027654,,,,,embryonal neoplasm,MONDO:0005564,,,embryonal cancer,DOID:688,, +BMGC_DS01699,BMG_DS002136,,UMLS ID:C0027656,,,,,connective tissue neoplasm,MONDO:0021581,,,connective tissue cancer,DOID:201,, +BMGC_DS01700,BMG_DS002137,,UMLS ID:C0027658,,,,,,,,,germ cell and embryonal cancer,DOID:3095,, +BMGC_DS01701,BMG_DS002138,,UMLS ID:C0027662,,,,,multiple endocrine neoplasia,MONDO:0017169,,,,,, +BMGC_DS01702,BMG_DS002139,,UMLS ID:C0027664,,,,,,,,,muscle benign neoplasm,DOID:461,, +BMGC_DS01703,BMG_DS002140,,UMLS ID:C0027665,,,,,,,,,nervous system cancer,DOID:3093,, +BMGC_DS01704,BMG_DS002142,,UMLS ID:C0027672,,,,,hereditary neoplastic syndrome,MONDO:0015356,,,,,, +BMGC_DS01705,BMG_DS002143,Nephritis,UMLS ID:C0027697,Nephritis | Nephritis (disorder),SNOMEDCT ID:52845002,,,nephritis,MONDO:0001166,Nephritis,MeSH ID:D009393,nephritis,DOID:10952,ICD10 ID:N08,OMIM ID:MTHU036910 +BMGC_DS01706,BMG_DS002144,Hereditary nephritis,UMLS ID:C0027706,Hereditary nephritis | Alport's syndrome | Familial nephritis | Familial hematuria | Hereditary glomerulonephritis | GN - Hereditary glomerulonephritis | Non-progressive hereditary glomerulonephritis | Benign familial haematuria | Benign familial hematuria | Familial haematuria | Hereditary nephritis (disorder) | Hereditary nephritis (disorder) | Hereditary nephritis | GN - Hereditary glomerulonephritis | Hereditary glomerulonephritis,SNOMEDCT ID:57333009 | SNOMEDCT ID:399340005,,,hereditary nephritis,MONDO:0005334,,,Alport syndrome,DOID:10983,, +BMGC_DS01707,BMG_DS002145,"Nephritis, Interstitial",UMLS ID:C0027707,,,,,,,"Nephritis, Interstitial",MeSH ID:D009395,interstitial nephritis,DOID:1063,, +BMGC_DS01708,BMG_DS002146,,UMLS ID:C0027708,,,,,Wilms tumor,MONDO:0006058,,,nephroblastoma,DOID:2154,, +BMGC_DS01709,BMG_DS002147,Nephrocalcinosis,UMLS ID:C0027709,"(Disorders of calcium metabolism [& calcinosis]) or (nephrocalcinosis) | Calcinosis | Nephrocalcinosis | Disorders of calcium metabolism | (Disorders of calcium metabolism [& calcinosis]) or (nephrocalcinosis) (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Nephrocalcinosis | Calcium disorder | Phosphorus, calcium disorders | Hypercalcinuria | Phosphorus and calcium disorders | Phosphorus disorder | Hypocalcaemia | Hypercalcaemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | Hypercalcemia | Hypocalcemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder) | Nephrocalcinosis | Nephrocalcinosis (disorder) | (Phosphorus &/or calcium disorders (& [hypercalcemia] or [hypercalcinuria] or [hypocalcemia]) or (nephrocalcinosis) | Nephrocalcinosis | Phosphorus and calcium disorders | Phosphorus, calcium disorders | Hypercalcinuria | Phosphorus disorder | Calcium disorder | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) | Hypercalcemia | Hypocalcemia | Hypocalcaemia | Hypercalcaemia | (Phosphorus &/or calcium disorders (& [hypercalcaemia] or [hypercalcinuria] or [hypocalcaemia]) or (nephrocalcinosis) (disorder)",SNOMEDCT ID:190863003 | SNOMEDCT ID:267505006 | SNOMEDCT ID:48638002 | SNOMEDCT ID:154752005,,,nephrocalcinosis,MONDO:0001567,Nephrocalcinosis,MeSH ID:D009397,nephrocalcinosis,DOID:12679,,OMIM ID:MTHU005829 +BMGC_DS01710,BMG_DS002148,Nephrosclerosis,UMLS ID:C0027719,Hypertensive renal disease (& [nephrosclerosis]) | Hypertensive renal disease | Nephrosclerosis | Hypertensive nephropathy | Hypertensive renal disease (& [nephrosclerosis]) (disorder) | Nephrosclerosis | Interstitial arteriosclerotic nephritis | Chronic arteriosclerotic nephritis | Arteriosclerosis of kidney | Renal arteriosclerosis | Nephrosclerosis (disorder) | Renal sclerosis,SNOMEDCT ID:194773000 | SNOMEDCT ID:32916005,,,nephrosclerosis,MONDO:0006044,Nephrosclerosis,MeSH ID:D009400,nephrosclerosis,DOID:11664,,OMIM ID:MTHU036895 +BMGC_DS01711,BMG_DS002149,Nephrosis,UMLS ID:C0027720,Kidney disease | Renal disorder | Nephropathy | Renal disease | Disease of kidney | Kidney disease (disorder) | Disorder of kidney,SNOMEDCT ID:90708001,,,nephrosis,MONDO:0002331,Nephrosis,MeSH ID:D009401,nephrosis,DOID:2527,,OMIM ID:MTHU017719 +BMGC_DS01712,BMG_DS002150,Lipoid nephrosis,UMLS ID:C0027721,Nephrotic syndrome (& [minimal change glomerulonephritis] or [steroid sensitive]) | Nephrotic syndrome with minimal change glomerulonephritis | Steroid sensitive nephrotic syndrome | Lipoid nephrosis | Nephrotic syndrome (& [minimal change glomerulonephritis] or [steroid sensitive]) (disorder) | Minimal change disease | Nil disease | Lipoid nephrosis | Lipid nephrosis | Minimal change disease (disorder) | MCD - Minimal change disease | MCGN - Minimal change glomerulonephritis | Minimal change nephrotic syndrome | Minimal change nephropathy | Light negative glomerulonephritis | Minimal change glomerulonephritis | MCNS - Minimal change nephrotic syndrome | MCN - Minimal change nephropathy,SNOMEDCT ID:197592009 | SNOMEDCT ID:44785005,,,lipoid nephrosis,MONDO:0006835,,,lipoid nephrosis,DOID:10966,, +BMGC_DS01713,BMG_DS002151,Nephrotic Syndrome,UMLS ID:C0027726,,,,,nephrotic syndrome,MONDO:0005377,Nephrotic Syndrome,MeSH ID:D009404,nephrotic syndrome,DOID:1184,, +BMGC_DS01714,BMG_DS002152,,UMLS ID:C0027743,,,,,,,,,nerve compression syndrome,DOID:573,, +BMGC_DS01715,BMG_DS002153,,UMLS ID:C0027746,,,,,neurodegenerative disease,MONDO:0005559,,,,,, +BMGC_DS01716,BMG_DS002154,,UMLS ID:C0027765,,,,,nervous system disorder,MONDO:0005071,,,nervous system disease,DOID:863,, +BMGC_DS01717,BMG_DS002156,Nesidioblastosis,UMLS ID:C0027773,Islet cell hyperplasia | Nesidioblastosis | Pancreatic endocrine cell hyperplasia | Islet cell hyperplasia (disorder),SNOMEDCT ID:42681006,,,,,Nesidioblastosis,MeSH ID:D046768,hyperinsulinemic hypoglycemia,DOID:13317,, +BMGC_DS01718,BMG_DS002157,,UMLS ID:C0027794,,,,,neural tube defect,MONDO:0018075,,,,,, +BMGC_DS01719,BMG_DS002158,,UMLS ID:C0027796,,,,,neuralgia,MONDO:0021667,,,,,, +BMGC_DS01720,BMG_DS002160,,UMLS ID:C0027809,,,,,schwannoma,MONDO:0002546,,,neurilemmoma,DOID:3192,, +BMGC_DS01721,BMG_DS002161,Neuritis,UMLS ID:C0027813,Neuritis | Neuritis (disorder) | Neuritis (disorder) | Neuritis | Inflammatory neuropathy | Inflammatory neuropathy (disorder) | Neuritis,SNOMEDCT ID:247378004 | SNOMEDCT ID:123254001 | SNOMEDCT ID:84299009 | SNOMEDCT ID:21018002,,,neuritis,MONDO:0002122,Neuritis,MeSH ID:D009443,neuritis,DOID:1803,, +BMGC_DS01722,BMG_DS002162,,UMLS ID:C0027819,,,,,neuroblastoma,MONDO:0005072,,,neuroblastoma,DOID:769,, +BMGC_DS01723,BMG_DS002163,Neurocirculatory Asthenia,UMLS ID:C0027821,,,,,,,,MeSH ID:D009449,neurocirculatory asthenia,DOID:11569,, +BMGC_DS01724,BMG_DS002164,Neurodermatitis,UMLS ID:C0027822,Neurodermatitis | Neurodermatitis (disorder),SNOMEDCT ID:156383005 | SNOMEDCT ID:267854005,,,neurodermatitis,MONDO:0006585,Neurodermatitis,MeSH ID:D009450,neurodermatitis,DOID:3309,, +BMGC_DS01725,BMG_DS002165,,UMLS ID:C0027830,,,,,neurofibroma,MONDO:0016755,,,neurofibroma,DOID:962,, +BMGC_DS01726,BMG_DS002166,,UMLS ID:C0027831,,,,,neurofibromatosis type 1,MONDO:0018975,,,neurofibromatosis 1,DOID:0111253,,OMIM ID:162200 +BMGC_DS01727,BMG_DS002167,,UMLS ID:C0027832,,,,,NF2-related schwannomatosis,MONDO:0007039,,,vestibular schwannomatosis,DOID:0111252,,OMIM ID:101000 +BMGC_DS01728,BMG_DS002168,Neuroleptic Malignant Syndrome,UMLS ID:C0027849,,,,,neuroleptic malignant syndrome,MONDO:0019790,Neuroleptic Malignant Syndrome,MeSH ID:D009459,neuroleptic malignant syndrome,DOID:14464,, +BMGC_DS01729,BMG_DS002169,,UMLS ID:C0027858,,,,,neuroma,MONDO:0002173,,,neuroma,DOID:2001,, +BMGC_DS01730,BMG_DS002170,,UMLS ID:C0027859,,,,,acoustic neuroma,MONDO:0001569,,,acoustic neuroma,DOID:12689,, +BMGC_DS01731,BMG_DS002171,Neuromuscular Diseases,UMLS ID:C0027868,,,,,neuromuscular disease,MONDO:0019056,Neuromuscular Diseases,MeSH ID:D009468,neuromuscular disease,DOID:440,, +BMGC_DS01732,BMG_DS002172,Neuromyelitis Optica,UMLS ID:C0027873,,,,,neuromyelitis optica,MONDO:0019100,Neuromyelitis Optica,MeSH ID:D009471,neuromyelitis optica,DOID:8869,, +BMGC_DS01733,BMG_DS002173,Neuronal Ceroid-Lipofuscinoses,UMLS ID:C0027877,,,,,neuronal ceroid lipofuscinosis,MONDO:0016295,Neuronal Ceroid-Lipofuscinoses,MeSH ID:D009472,neuronal ceroid lipofuscinosis,DOID:14503,, +BMGC_DS01734,BMG_DS002174,,UMLS ID:C0027881,,,,,neuronitis,MONDO:0004466,,,neuronitis,DOID:8117,, +BMGC_DS01735,BMG_DS002175,Hereditary Motor and Sensory Neuropathies,UMLS ID:C0027888,,,,,hereditary motor and sensory neuropathy,MONDO:0015358,Hereditary Sensory and Motor Neuropathy,MeSH ID:D015417,motor peripheral neuropathy,DOID:2477,, +BMGC_DS01736,BMG_DS002176,Hereditary Sensory and Autonomic Neuropathies,UMLS ID:C0027889,,,,,hereditary sensory and autonomic neuropathy,MONDO:0015364,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory neuropathy,DOID:0050548,, +BMGC_DS01737,BMG_DS002177,Neurosyphilis,UMLS ID:C0027927,Neurosyphilis | Syphilis of central nervous system | Neurosyphilis (disorder) | Neurosyphilis (& [GPI] or [tabes dorsalis]) | GPI-general paralysis insane | GPI - General paresis of the insane | Tabes dorsalis | Neurosyphilis | Neurosyphilis (& [GPI] or [tabes dorsalis]) (disorder) | Neurosyphilis (& [GPI] or [tabes dorsalis]) | GPI - General paresis of the insane | Neurosyphilis | GPI-general paralysis insane | Tabes dorsalis | Neurosyphilis (& [GPI] or [tabes dorsalis]) (disorder) | Neurosyphilis | Neurosyphilis (disorder),SNOMEDCT ID:26039008 | SNOMEDCT ID:266210001 | SNOMEDCT ID:154384001 | SNOMEDCT ID:186884004,,,neurosyphilis,MONDO:0004944,Neurosyphilis,MeSH ID:D009494,tertiary neurosyphilis,DOID:9988,, +BMGC_DS01738,BMG_DS002178,,UMLS ID:C0027932,,,,,neurotic disorder,MONDO:0005379,,,neurotic disorder,DOID:4964,, +BMGC_DS01739,BMG_DS002179,Neutropenia,UMLS ID:C0027947,(Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) | Kostmann's syndrome | Neutropenia | Agranulocytosis | (Agranulocytosis) or (Kostmann's syndrome) or (neutropenia) (disorder) | Neutropenia | Neutropenia (disorder) | Neutropenic disorder | Neutropenic disorder (disorder) | Neutropenia | Neutropenia (finding),SNOMEDCT ID:191336001 | SNOMEDCT ID:72885007 | SNOMEDCT ID:303011007 | SNOMEDCT ID:142928004,,,,,Neutropenia,MeSH ID:D009503,neutropenia | severe congenital neutropenia,DOID:1227;DOID:0050590,ICD10 ID:D70,OMIM ID:MTHU001686 +BMGC_DS01740,BMG_DS002181,,UMLS ID:C0027962,,,,,melanocytic nevus,MONDO:0005073,,,,,, +BMGC_DS01741,BMG_DS002182,Newcastle Disease,UMLS ID:C0027983,,,,,Newcastle disease,MONDO:0005875,Newcastle Disease,MeSH ID:D009521,Newcastle disease,DOID:2929,, +BMGC_DS01742,BMG_DS002183,,UMLS ID:C0028043,,,,,nicotine dependence,MONDO:0008575,,,nicotine dependence,DOID:0050742,, +BMGC_DS01743,BMG_DS002184,Niemann-Pick Diseases,UMLS ID:C0028064,,,,,Niemann-Pick disease,MONDO:0001982,Niemann-Pick Diseases,MeSH ID:D009542,Niemann-Pick disease,DOID:14504,, +BMGC_DS01744,BMG_DS002185,Nyctalopia,UMLS ID:C0028077,Night blindness | Nyctalopia | Night blindness (disorder) | Difficulty seeing at night | Day blindness | Hemeralopia | Difficulty seeing at night | Night blindness | Nyctalopia | Day blindness (disorder),SNOMEDCT ID:65194006 | SNOMEDCT ID:75390007,,,night blindness,MONDO:0004588,Night Blindness,MeSH ID:D009755,night blindness,DOID:8499,,OMIM ID:MTHU008883 +BMGC_DS01745,BMG_DS002186,Nocardia Infections,UMLS ID:C0028242,,,,,nocardiosis,MONDO:0017776,Nocardia Infections,MeSH ID:D009617,nocardiosis,DOID:2312,, +BMGC_DS01746,BMG_DS002188,,UMLS ID:C0028253,,,,,,,,,multiple symmetric lipomatosis,DOID:14116,, +BMGC_DS01747,BMG_DS002190,Noma,UMLS ID:C0028271,Cancrum oris | Gangrenous stomatitis | Noma | Acute gangrenous stomatitis | Cancrum oris (disorder) | Noma (& [cancrum oris] or [gangrenous stomatitis]) | Cancrum oris | Noma | Gangrenous stomatitis | Noma (& [cancrum oris] or [gangrenous stomatitis]) (disorder),SNOMEDCT ID:18116006 | SNOMEDCT ID:196528007,"Necrotising ulcerative gingivitis, unspecified",ICD11 ID:1C1H.Z,noma,MONDO:0017124,Noma,MeSH ID:D009625,noma,DOID:9672,ICD10 ID:A69.0, +BMGC_DS01748,BMG_DS002193,Noonan Syndrome,UMLS ID:C0028326,,,,,Noonan syndrome,MONDO:0018997,Noonan Syndrome,MeSH ID:D009634,Noonan syndrome,DOID:3490,, +BMGC_DS01749,BMG_DS002194,Crusted scabies,UMLS ID:C0028425,Norwegian scabies | Crusted scabies | Crusted scabies (disorder),SNOMEDCT ID:128870005,,,Norwegian scabies,MONDO:0001951,,,norwegian scabies,DOID:14374,, +BMGC_DS01750,BMG_DS002195,Nose Diseases,UMLS ID:C0028432,,,,,nasal disorder,MONDO:0002436,Nose Diseases,MeSH ID:D009668,nose disease,DOID:2825,, +BMGC_DS01751,BMG_DS002198,Nocturia,UMLS ID:C0028734,Nycturia | Nocturia - finding | Finding of nocturia (finding) | Finding of nocturia | Nocturia | Nocturia (finding),SNOMEDCT ID:6408001 | SNOMEDCT ID:139394000,,,,,Nocturia,MeSH ID:D053158,,,ICD10 ID:R35.1,OMIM ID:MTHU037390 +BMGC_DS01752,BMG_DS002199,Nystagmus,UMLS ID:C0028738,Nystagmus and other irregular eye movements | Nystagmus | Nystagmus &/or other irregular eye movements | Nystagmus &/or other irregular eye movements (disorder) | Nystagmus | Congenital nystagmus | Nystagmus (& [congenital]) | Nystagmus (& [congenital]) (disorder) | Congenital nystagmus | Nystagmus | Nystagmus (& [congenital]) | Nystagmus (& [congenital]) (disorder) | Nystagmus | Nystagmus (disorder),SNOMEDCT ID:194171007 | SNOMEDCT ID:267750005 | SNOMEDCT ID:155205009 | SNOMEDCT ID:563001,,,pathologic nystagmus,MONDO:0004843,,,pathologic nystagmus,DOID:9650,ICD10 ID:H55.0,OMIM ID:MTHU000235 +BMGC_DS01753,BMG_DS002200,Obesity,UMLS ID:C0028754,Obesity (disorder) | Obesity | Adiposis | Adiposity | Obesity | Obesity (disorder) | Adiposis | Adiposity | Simple obesity | Calorie overload | Adiposity (disorder),SNOMEDCT ID:414916001 | SNOMEDCT ID:190963004 | SNOMEDCT ID:154776002 | SNOMEDCT ID:5476005,,,obesity disorder,MONDO:0011122,Obesity,MeSH ID:D009765,obesity,DOID:9970,,OMIM ID:MTHU000250 +BMGC_DS01754,BMG_DS002201,Morbid obesity,UMLS ID:C0028756,Morbid obesity | Morbid obesity (disorder),SNOMEDCT ID:190967003 | SNOMEDCT ID:238136002 | SNOMEDCT ID:389986000,,,morbid obesity,MONDO:0005139,,,morbid obesity,DOID:11981,,OMIM ID:MTHU051042 +BMGC_DS01755,BMG_DS002202,,UMLS ID:C0028768,,,,,obsessive-compulsive disorder,MONDO:0008114,,,obsessive-compulsive disorder,DOID:10933,,OMIM ID:164230 +BMGC_DS01756,BMG_DS002203,,UMLS ID:C0028790,,,,,cerebral artery occlusion,MONDO:0000944,,,cerebral artery occlusion,DOID:10127,, +BMGC_DS01757,BMG_DS002204,"Dermatitis, Occupational",UMLS ID:C0028796,,,,,occupational dermatitis,MONDO:0006589,"Dermatitis, Occupational",MeSH ID:D009783,occupational dermatitis,DOID:4404,, +BMGC_DS01758,BMG_DS002205,Occupational Diseases,UMLS ID:C0028797,,,,,occupational disorder,MONDO:0100366,Occupational Diseases,MeSH ID:D009784,,,, +BMGC_DS01759,BMG_DS002206,Ochronosis,UMLS ID:C0028817,"Ochronosis due to homogentisate 1,2-dioxygenase deficiency (disorder) | Alcaptonuric ochronosis | Pigmentation due to alkaptonuria | Ochronosis | Alkaptonuric ochronosis | Ochronosis due to homogentisate 1,2-dioxygenase deficiency | Ochronosis due to alkaptonuria | Ochronosis | Alkaptonuric ochronosis | Ochronosis (disorder)",SNOMEDCT ID:410042009 | SNOMEDCT ID:21924005,,,ochronosis disorder,MONDO:0001910,Ochronosis,MeSH ID:D009794,ochronosis,DOID:14223,ICD10 ID:E70.29, +BMGC_DS01760,BMG_DS002207,Ocular Hypertension,UMLS ID:C0028840,,,,,ocular hypertension,MONDO:0006875,Ocular Hypertension,MeSH ID:D009798,ocular hypertension,DOID:9282,, +BMGC_DS01761,BMG_DS002208,Ocular Hypotension,UMLS ID:C0028841,,,,,ocular hypotension,MONDO:0004390,Ocular Hypotension,MeSH ID:D015814,ocular hypotension,DOID:790,, +BMGC_DS01762,BMG_DS002210,Ocular Motility Disorders,UMLS ID:C0028850,,,,,ocular motility disease,MONDO:0001584,Ocular Motility Disorders,MeSH ID:D015835,ocular motility disease,DOID:1279,, +BMGC_DS01763,BMG_DS002211,Ocular Torticollis,UMLS ID:C0028856,,,,,,,Ocular Motility Disorders,MeSH ID:D015835,,,, +BMGC_DS01764,BMG_DS002212,Oculocerebrorenal Syndrome,UMLS ID:C0028860,,,,,oculocerebrorenal syndrome,MONDO:0010645,Oculocerebrorenal Syndrome,MeSH ID:D009800,oculocerebrorenal syndrome,DOID:1056,,OMIM ID:309000 +BMGC_DS01765,BMG_DS002213,Oculomotor Nerve Paralysis,UMLS ID:C0028866,,,,,oculomotor nerve paralysis,MONDO:0001309,Oculomotor Nerve Diseases,MeSH ID:D015840,oculomotor nerve paralysis,DOID:11550,, +BMGC_DS01766,BMG_DS002217,Oesophagostomiasis,UMLS ID:C0028887,Oesophagostomiasis | Nodular worm disease | Infection by Oesophagostomum | Infection by Oesophagostomum (disorder),SNOMEDCT ID:22500005,,,oesophagostomiasis,MONDO:0005880,Oesophagostomiasis,MeSH ID:D009814,oesophagostomiasis,DOID:3983,, +BMGC_DS01767,BMG_DS002218,,UMLS ID:C0028945,,,,,oligodendroglioma,MONDO:0016695,,,,,, +BMGC_DS01768,BMG_DS002219,Oligospermia,UMLS ID:C0028960,,,,,oligospermia,MONDO:0001913,Oligospermia,MeSH ID:D009845,oligospermia,DOID:14228,ICD10 ID:N46.1, +BMGC_DS01769,BMG_DS002220,Oliguria,UMLS ID:C0028961,Oliguria | Oliguria (finding) | Oligouria | Passes too little urine | Oliguria | Oliguria (finding),SNOMEDCT ID:83128009 | SNOMEDCT ID:139461002,,,,,Oliguria,MeSH ID:D009846,,,,OMIM ID:MTHU076561 +BMGC_DS01770,BMG_DS002221,Olivopontocerebellar Atrophies,UMLS ID:C0028968,,,,,olivopontocerebellar atrophy,MONDO:0002017,Olivopontocerebellar Atrophies,MeSH ID:D009849,olivopontocerebellar atrophy,DOID:14784,, +BMGC_DS01771,BMG_DS002224,Onchocerciasis,UMLS ID:C0029001,Infection by Onchocerca volvulus | Onchocerciasis | Onchocercosis | Infection caused by Onchocerca volvulus (disorder) | Infection caused by Onchocerca volvulus,SNOMEDCT ID:38539003,,,onchocerciasis,MONDO:0017137,Onchocerciasis,MeSH ID:D009855,onchocerciasis,DOID:11678,ICD10 ID:B73, +BMGC_DS01772,BMG_DS002226,Oophoritis,UMLS ID:C0029051,Oophoritis | Oophoritis (disorder) | Inflammation of ovary | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Chronic pelvic inflam. dis.NOS | Pelvic inflammatory disease | Salpingitis | Oophoritis | Inflam. dis.- pelvic | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder) | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Pelvic inflammatory disease | Inflam. dis.- pelvic | Chronic pelvic inflam. dis.NOS | Oophoritis | Salpingitis | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder),SNOMEDCT ID:76047005 | SNOMEDCT ID:155968004 | SNOMEDCT ID:266648001,,,oophoritis,MONDO:0006877,Oophoritis,MeSH ID:D009869,oophoritis,DOID:10974,, +BMGC_DS01773,BMG_DS002227,,UMLS ID:C0029076,,,,,ophthalmia neonatorum,MONDO:0004854,,,ophthalmia neonatorum,DOID:9699,, +BMGC_DS01774,BMG_DS002228,"Ophthalmia, Sympathetic",UMLS ID:C0029077,,,,,sympathetic ophthalmia,MONDO:0019198,"Ophthalmia, Sympathetic",MeSH ID:D009879,sympathetic ophthalmia,DOID:12029,, +BMGC_DS01775,BMG_DS002229,,UMLS ID:C0029089,,,,,ophthalmoplegia,MONDO:0003425,,,ophthalmoplegia,DOID:539,, +BMGC_DS01776,BMG_DS002230,,UMLS ID:C0029095,,,,,opioid abuse,MONDO:0001225,,,opioid abuse,DOID:11206,, +BMGC_DS01777,BMG_DS002231,Opisthorchiasis,UMLS ID:C0029106,Opisthorchiasis | Cat liver fluke infection | Opisthorchiosis | Opisthorchiasis (disorder) | Opisthorchiasis (& [cat liver fluke infection]) | Cat liver fluke infection | Opisthorchiasis | Opisthorchiasis (& [cat liver fluke infection]) (disorder),SNOMEDCT ID:1059007 | SNOMEDCT ID:187124006,Opisthorchiasis,ICD11 ID:1F84,opisthorchiasis,MONDO:0005884,Opisthorchiasis,MeSH ID:D009889,opisthorchiasis,DOID:13768,ICD10 ID:B66.0, +BMGC_DS01778,BMG_DS002233,Opportunistic mycosis,UMLS ID:C0029119,Opportunistic mycosis | Opportunistic mycosis (disorder),SNOMEDCT ID:78999002,,,opportunistic mycosis,MONDO:0002312,,,opportunistic mycosis,DOID:2473,, +BMGC_DS01779,BMG_DS002234,,UMLS ID:C0029121,,,,,oppositional defiant disorder,MONDO:0000495,,,,,, +BMGC_DS01780,BMG_DS002235,Optic Atrophy,UMLS ID:C0029124,,,,,optic atrophy,MONDO:0003608,Optic Atrophy,MeSH ID:D009896,optic atrophy,DOID:5723,, +BMGC_DS01781,BMG_DS002236,"Optic Atrophies, Hereditary",UMLS ID:C0029125,,,,,hereditary optic atrophy,MONDO:0043878,"Optic Atrophies, Hereditary",MeSH ID:D015418,,,, +BMGC_DS01782,BMG_DS002237,Optic Disk Drusen,UMLS ID:C0029128,,,,,optic disk drusen,MONDO:0001746,Optic Disk Drusen,MeSH ID:D015594,optic disk drusen,DOID:13561,, +BMGC_DS01783,BMG_DS002238,Disorder of optic nerve,UMLS ID:C0029132,Disorder of optic nerve | Disorder of optic nerve (disorder) | Optic neuropathy | Disorders of optic nerve &/or visual pathways | Visual path disorder | Disorder of optic nerve | Optic nerve disorders | Disorders of the second nerve | Disorders of the IInd cranial nerve | Disorders of optic nerve and visual pathways | Disorders of optic nerve &/or visual pathways (disorder),SNOMEDCT ID:77157004 | SNOMEDCT ID:194037001,,,,,,,optic nerve disease,DOID:1891,, +BMGC_DS01784,BMG_DS002239,Optic Neuritis,UMLS ID:C0029134,,,,,optic neuritis,MONDO:0005885,Optic Neuritis,MeSH ID:D009902,optic neuritis,DOID:1210,, +BMGC_DS01785,BMG_DS002240,,UMLS ID:C0029171,,,,,,,,,oral submucous fibrosis,DOID:5773,, +BMGC_DS01786,BMG_DS002241,Oral Submucous Fibrosis,UMLS ID:C0029172,,,,,oral submucous fibrosis,MONDO:0018166,Oral Submucous Fibrosis,MeSH ID:D009914,oral submucous fibrosis,DOID:5773,, +BMGC_DS01787,BMG_DS002242,Orbital Diseases,UMLS ID:C0029182,,,,,disease of orbital part of eye adnexa,MONDO:0004751,Orbital Diseases,MeSH ID:D009916,orbital disease,DOID:930,, +BMGC_DS01788,BMG_DS002243,,UMLS ID:C0029185,,,,,orbit neoplasm,MONDO:0024611,,,orbital cancer,DOID:4143,, +BMGC_DS01789,BMG_DS002244,Orchitis,UMLS ID:C0029191,Orchitis | Orchitis (disorder) | Orchitis | Non-specific orchitis | Orchitis (disorder) | Inflammation of testis,SNOMEDCT ID:367112009 | SNOMEDCT ID:29077001 | SNOMEDCT ID:197984006 | SNOMEDCT ID:274718005,,,orchitis,MONDO:0006882,Orchitis,MeSH ID:D009920,orchitis,DOID:2518,ICD10 ID:N45.2, +BMGC_DS01790,BMG_DS002245,Organic brain syndrome,UMLS ID:C0029221,Organic brain syndrome | Organic brain syndrome (disorder) | Delirium | Organic brain syndrome | Acute confusional state | OBS - Organic brain syndrome | Acute psycho-organic syndrome | Acute organic reaction | ABS - Acute brain syndrome | Acute brain syndrome | Delirium (disorder),SNOMEDCT ID:40101002 | SNOMEDCT ID:2776000,,,,,,,,,, +BMGC_DS01791,BMG_DS002246,,UMLS ID:C0029227,,,,,,,,,cognitive disorder,DOID:1561,, +BMGC_DS01792,BMG_DS002248,Psittacosis,UMLS ID:C0029291,Psittacosis | Psittacosis (disorder) | Ornithosis | Psittacosis | Parrot fever | Parrot fever due to Chlamydia psitacci | Ornithosis (disorder) | Chlamydia psittaci infection,SNOMEDCT ID:154369005 | SNOMEDCT ID:186653003 | SNOMEDCT ID:75116005,,,ornithosis,MONDO:0005888,Psittacosis,MeSH ID:D009956,ornithosis,DOID:11262,ICD10 ID:A70, +BMGC_DS01793,BMG_DS002249,Orofaciodigital Syndromes,UMLS ID:C0029294,,,,,orofaciodigital syndrome,MONDO:0015375,Orofaciodigital Syndromes,MeSH ID:D009958,orofaciodigital syndrome I | orofaciodigital syndrome,DOID:0060316;DOID:4501,, +BMGC_DS01794,BMG_DS002250,,UMLS ID:C0029295,,,,,neoplasm of oropharynx,MONDO:0021364,,,,,, +BMGC_DS01795,BMG_DS002252,Orthomyxoviridae Infections,UMLS ID:C0029342,,,,,,,Orthomyxoviridae Infections,MeSH ID:D009976,,,, +BMGC_DS01796,BMG_DS002253,Juvenile osteochondrosis of tibial tubercle,UMLS ID:C0029376,Juvenile osteochondrosis of tibial tubercle | Osgood-Schlatter's disease | Juvenile osteochondrosis of tibial tubercle (disorder) | Osgood Schlatter disease | Osgood Schlatters disease,SNOMEDCT ID:72047008,,,Osgood-Schlatter disease,MONDO:0004241,,,Osgood-Schlatter's disease,DOID:7489,, +BMGC_DS01797,BMG_DS002254,Osteitis,UMLS ID:C0029400,Bone inflammatory disease | Bone inflammatory disease (disorder) | Osteitis | Inflammation of bone | Inflammatory disorder of bone | Osteitis | Inflammation of bone | Osteitis (disorder),SNOMEDCT ID:274144001 | SNOMEDCT ID:44462005,,,bone inflammation disease,MONDO:0002614,Osteitis,MeSH ID:D010000,bone inflammation disease,DOID:3342,, +BMGC_DS01798,BMG_DS002255,Osteitis Deformans,UMLS ID:C0029401,,,,,bone Paget disease,MONDO:0005382,Osteitis Deformans,MeSH ID:D010001,Paget's disease of bone,DOID:5408,, +BMGC_DS01799,BMG_DS002256,Osteitis Fibrosa Cystica,UMLS ID:C0029405,,,,,osteitis fibrosa,MONDO:0005890,Osteitis Fibrosa Cystica,MeSH ID:D010002,osteitis fibrosa,DOID:3341,, +BMGC_DS01800,BMG_DS002257,Degenerative polyarthritis,UMLS ID:C0029408,Degenerative joint disease | Osteoarthrosis | Degenerative arthritis | Degenerative polyarthritis | Hypertrophic arthritis | Hypertrophic polyarthritis | Osteoarthritis | Proliferative arthritis | Degenerative arthropathy | Degenerative joint disease (disorder) | Osteoarthritis (disorder) | Osteoarthritis | OA - Osteoarthritis | Degenerative arthritis | OA - Osteoarthrosis | Hypertrophic arthritis | Degenerative joint disease | Hypertrophic polyarthritis | Osteoarthrosis | Degenerative arthropathy | Osteoarthritis deformans | Osteoarthrosis deformans | Osteoarthritis | Degenerative arthritis | OA - Osteoarthritis | Osteoarthrosis | OA - Osteoarthrosis | Osteoarthritis (disorder) | Degenerative arthropathy | Hypertrophic polyarthritis | Proliferative arthritis | Hypertrophic arthritis | Degenerative polyarthritis | Degenerative joint disease | Degenerative polyarthritis | Degenerative polyarthritis (disorder),SNOMEDCT ID:80843008 | SNOMEDCT ID:396275006 | SNOMEDCT ID:267888004 | SNOMEDCT ID:225655006,,,osteoarthritis,MONDO:0005178,,,,,, +BMGC_DS01801,BMG_DS002258,Osteoarthritis of hip,UMLS ID:C0029410,OA - Osteoarthritis of hip | Osteoarthritis of hip | Osteoarthritis of hip (disorder) | Degenerative joint disease of hip | Coxae malum senilis | Osteoarthritis of hip | Osteoarthritis of hip (disorder),SNOMEDCT ID:239872002 | SNOMEDCT ID:156492009,,,"osteoarthritis, hip",MONDO:0006629,,,,,ICD10 ID:M16, +BMGC_DS01802,BMG_DS002259,"Osteoarthropathy, Primary Hypertrophic",UMLS ID:C0029411,,,,,primary hypertrophic osteoarthropathy,MONDO:0016620,"Osteoarthropathy, Primary Hypertrophic",MeSH ID:D010004,primary hypertrophic osteoarthropathy,DOID:14283,, +BMGC_DS01803,BMG_DS002260,"Osteoarthropathy, Secondary Hypertrophic",UMLS ID:C0029412,,,,,secondary hypertrophic osteoarthropathy,MONDO:0006965,"Osteoarthropathy, Secondary Hypertrophic",MeSH ID:D010005,secondary hypertrophic osteoarthropathy,DOID:10393,, +BMGC_DS01804,BMG_DS002263,Osteochondritis Dissecans,UMLS ID:C0029421,,,,,osteochondritis dissecans,MONDO:0017178,Osteochondritis Dissecans,MeSH ID:D010008,osteochondritis dissecans,DOID:84,, +BMGC_DS01805,BMG_DS002264,Osteochondrodysplasias,UMLS ID:C0029422,,,,,osteochondrodysplasia,MONDO:0005516,Osteochondrodysplasias,MeSH ID:D010009,osteochondrodysplasia,DOID:2256,, +BMGC_DS01806,BMG_DS002266,Osteochondrosis,UMLS ID:C0029429,Osteochondrosis | Osteochondrosis (disorder) | Juvenile osteochondritis | Juvenile osteochondrosis | Osteochondrosis | Osteochondritis juvenilis | Osteochondropathy-juven | Juvenile osteochondritis (disorder),SNOMEDCT ID:65477003 | SNOMEDCT ID:19579005,,,osteochondrosis,MONDO:0018381,Osteochondrosis,MeSH ID:D055034,osteochondrosis,DOID:8125,, +BMGC_DS01807,BMG_DS002267,Osteogenesis Imperfecta,UMLS ID:C0029434,,,,,osteogenesis imperfecta,MONDO:0019019,Osteogenesis Imperfecta,MeSH ID:D010013,osteogenesis imperfecta,DOID:12347,, +BMGC_DS01808,BMG_DS002268,"Osteolysis, Essential",UMLS ID:C0029436,,,,,disappearing bone disease,MONDO:0003157,"Osteolysis, Essential",MeSH ID:D010015,Gorham's disease,DOID:4837,, +BMGC_DS01809,BMG_DS002270,Massive Osteolyses,UMLS ID:C0029438,,,,,Gorham-Stout disease,MONDO:0007414,"Osteolysis, Essential",MeSH ID:D010015,,,,OMIM ID:123880 +BMGC_DS01810,BMG_DS002273,Osteomalacia,UMLS ID:C0029442,Osteomalacia | Osteomalacia (disorder) | OM - osteomalacia | Vitamin D deficiency | Osteomalacia | Rickets | (Vitamin D deficiency) or (osteomalacia) or (rickets) | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | Osteomalacia | Vitamin D deficiency | Rickets | (Vitamin D deficiency) or (osteomalacia) or (rickets) | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder),SNOMEDCT ID:4598005 | SNOMEDCT ID:190639009 | SNOMEDCT ID:154728003,,,osteomalacia,MONDO:0001068,,,osteomalacia,DOID:10573,,OMIM ID:MTHU007357 +BMGC_DS01811,BMG_DS002274,Osteomyelitis,UMLS ID:C0029443,Osteomyelitis | Osteomyelitis (disorder) | Osteomyelitis | Pyogenic inflammation of bone | OSTM - Osteomyelitis | OM - Osteomyelitis | Osteomyelitis (disorder),SNOMEDCT ID:240141009 | SNOMEDCT ID:60168000,,,osteomyelitis,MONDO:0005246,Osteomyelitis,MeSH ID:D010019,,,ICD10 ID:M86,OMIM ID:MTHU037798 +BMGC_DS01812,BMG_DS002275,,UMLS ID:C0029445,,,,,osteonecrosis,MONDO:0005380,,,osteonecrosis,DOID:10159,, +BMGC_DS01813,BMG_DS002276,Osteopenia,UMLS ID:C0029453,Osteopenia | Osteopenia (disorder) | Osteopenia | Osteopenia (disorder) | Bone loss | Osteopenia | Osteopenia (morphologic abnormality),SNOMEDCT ID:203889002 | SNOMEDCT ID:156879002 | SNOMEDCT ID:312894000 | SNOMEDCT ID:78441005,,,,,"Bone Diseases, Metabolic",MeSH ID:D001851,,,,OMIM ID:MTHU000031 +BMGC_DS01814,BMG_DS002277,Osteopetrosis,UMLS ID:C0029454,Osteopetrosis | Osteopetrosis (disorder),SNOMEDCT ID:205500005 | SNOMEDCT ID:1926006,Osteopetrosis,ICD11 ID:LD24.10,osteopetrosis,MONDO:0017198,Osteopetrosis,MeSH ID:D010022,autosomal recessive osteopetrosis 7 | osteopetrosis,DOID:0110946;DOID:13533,ICD10 ID:Q78.2,OMIM ID:MTHU056843 +BMGC_DS01815,BMG_DS002278,Osteopoikilosis (disorder),UMLS ID:C0029455,Osteopoikilosis | Osteopoikilosis (disorder) | Buschke-Ollendorff syndrome,SNOMEDCT ID:9147009,,,osteopoikilosis,MONDO:0001414,,,osteopoikilosis,DOID:11991,, +BMGC_DS01816,BMG_DS002279,Osteoporosis,UMLS ID:C0029456,Osteoporosis | Osteoporosis (disorder),SNOMEDCT ID:156825006 | SNOMEDCT ID:64859006,,,osteoporosis,MONDO:0005298,Osteoporosis,MeSH ID:D010024,osteoporosis,DOID:11476,,OMIM ID:166710 | OMIM ID:MTHU002380 +BMGC_DS01817,BMG_DS002280,"Osteoporosis, Postmenopausal",UMLS ID:C0029458,,,,,postmenopausal osteoporosis,MONDO:0008159,"Osteoporosis, Postmenopausal",MeSH ID:D015663,,,, +BMGC_DS01818,BMG_DS002281,"Osteoporosis, Senile",UMLS ID:C0029459,,,,,,,Osteoporosis,MeSH ID:D010024,,,, +BMGC_DS01819,BMG_DS002283,,UMLS ID:C0029463,,,,,osteosarcoma,MONDO:0009807,,,osteosarcoma,DOID:3347,, +BMGC_DS01820,BMG_DS002284,Osteosclerosis,UMLS ID:C0029464,Osteosclerosis | Osteosclerosis (disorder),SNOMEDCT ID:49347007,,,osteosclerosis,MONDO:0002933,Osteosclerosis,MeSH ID:D010026,osteosclerosis,DOID:4254,,OMIM ID:MTHU005522 +BMGC_DS01821,BMG_DS002285,Ostertagiasis,UMLS ID:C0029471,,,,,ostertagiasis,MONDO:0005891,Ostertagiasis,MeSH ID:D010029,ostertagiasis,DOID:3985,, +BMGC_DS01822,BMG_DS002287,Other acne,UMLS ID:C0029485,Other acne | Other acne (disorder),SNOMEDCT ID:201213005,,,,,,,sebaceous gland disease,DOID:9098,ICD10 ID:L70.8, +BMGC_DS01823,BMG_DS002288,,UMLS ID:C0029488,,,,,,,,,acute stress disorder,DOID:6088,, +BMGC_DS01824,BMG_DS002289,,UMLS ID:C0029493,,,,,,,,,pituitary gland disease,DOID:53,, +BMGC_DS01825,BMG_DS002291,,UMLS ID:C0029512,,,,,,,,,diversion colitis | chemical colitis,DOID:0060186;DOID:0060187,, +BMGC_DS01826,BMG_DS002292,,UMLS ID:C0029513,,,,,,,,,ovarian cyst,DOID:5119,, +BMGC_DS01827,BMG_DS002293,,UMLS ID:C0029516,,,,,,,,,psychotic disorder,DOID:2468,, +BMGC_DS01828,BMG_DS002298,Other cataract,UMLS ID:C0029531,Other cataract | Other cataract (disorder),SNOMEDCT ID:193620000,,,,,,,cataract,DOID:83,ICD10 ID:H26, +BMGC_DS01829,BMG_DS002301,Other chorea,UMLS ID:C0029542,,,"Movement disorders, unspecified",ICD11 ID:8A0Z,,,,,syndromic X-linked intellectual disability type 10 | choreatic disease,DOID:12859;DOID:0060810,ICD10 ID:G25.5, +BMGC_DS01830,BMG_DS002309,Other dermatoses,UMLS ID:C0029574,Other dermatoses | Other dermatoses (disorder),SNOMEDCT ID:201095006,,,,,,,skin disease,DOID:37,, +BMGC_DS01831,BMG_DS002310,,UMLS ID:C0029581,,,,,,,,,lower respiratory tract disease | upper respiratory tract disease,DOID:0050161;DOID:974,, +BMGC_DS01832,BMG_DS002311,Other respiratory system diseases,UMLS ID:C0029582,Other respiratory system diseases | Other respiratory system diseases (disorder),SNOMEDCT ID:155603009 | SNOMEDCT ID:196057004,,,,,,,respiratory system disease,DOID:1579,, +BMGC_DS01833,BMG_DS002312,Other disorders of lens,UMLS ID:C0029590,,,,,,,,,,,ICD10 ID:H27, +BMGC_DS01834,BMG_DS002313,Other disorders of lipoid metabolism,UMLS ID:C0029591,Other disorders of lipoid metabolism | Other disorders of lipoid metabolism (disorder),SNOMEDCT ID:154744007 | SNOMEDCT ID:190798009,,,,,,,lipid storage disease,DOID:9455,, +BMGC_DS01835,BMG_DS002315,,UMLS ID:C0029594,,,,,,,,,plasma protein metabolism disease,DOID:2345,, +BMGC_DS01836,BMG_DS002316,Other disorders of purine and pyrimidine metabolism,UMLS ID:C0029595,Disorders of purine and pyrimidine metabolism: [Lesch-Nyhan syndrome] or [other] | Other disorders of purine and pyrimidine metabolism | Lesch-Nyhan syndrome | Lesch - Nyhan syndrome | Disorders of purine and pyrimidine metabolism: [Lesch-Nyhan syndrome] or [other] (disorder) | Other disorders of purine and pyrimidine metabolism | Other disorders of purine and pyrimidine metabolism (disorder),SNOMEDCT ID:190917005 | SNOMEDCT ID:267450006,"Inborn errors of purine, pyrimidine or nucleotide metabolism, unspecified",ICD11 ID:5C55.Z,,,,,purine-pyrimidine metabolic disorder,DOID:653,ICD10 ID:E79.8, +BMGC_DS01837,BMG_DS002317,Other emphysema,UMLS ID:C0029607,Other emphysema | Other emphysema (morphologic abnormality),SNOMEDCT ID:195962007,"Emphysema, unspecified",ICD11 ID:CA21.Z,,,,,pulmonary emphysema,DOID:9675,ICD10 ID:J43.8, +BMGC_DS01838,BMG_DS002321,,UMLS ID:C0029630,,,,,,,,,heart conduction disease,DOID:10273,, +BMGC_DS01839,BMG_DS002325,Other impaction of intestine,UMLS ID:C0029640,,,"Diseases of the digestive system, unspecified",ICD11 ID:DE2Z,,,,,intestinal impaction,DOID:8448,ICD10 ID:K56.49 | ICD10 ID:K56.4, +BMGC_DS01840,BMG_DS002326,Other inflammatory spondylopathies,UMLS ID:C0029644,Other inflammatory spondylopathies | Other inflammatory spondylopathies (disorder),SNOMEDCT ID:202651004,,,,,,,spondylitis,DOID:6590,ICD10 ID:M46, +BMGC_DS01841,BMG_DS002328,Other localized visual field defect,UMLS ID:C0029657,,,,,,,,,scotoma,DOID:9335,ICD10 ID:H53.45, +BMGC_DS01842,BMG_DS002332,Other mucopurulent conjunctivitis,UMLS ID:C0029668,,,,,,,,,acute conjunctivitis,DOID:11184,ICD10 ID:H10.02, +BMGC_DS01843,BMG_DS002337,,UMLS ID:C0029696,,,,,,,,,otosclerosis,DOID:12185,, +BMGC_DS01844,BMG_DS002338,Other ovarian failure,UMLS ID:C0029697,(Other ovarian failure) or (ovarian hypogonadism) | Ovarian hypogonadism | Other ovarian failure | (Other ovarian failure) or (ovarian hypogonadism) (disorder) | Other ovarian failure | Other ovarian failure (disorder),SNOMEDCT ID:190543001 | SNOMEDCT ID:267399006,,,,,,,ovarian dysfunction,DOID:1414,, +BMGC_DS01845,BMG_DS002339,Other peripheral vertigo,UMLS ID:C0029706,,,Other peripheral vertigo,ICD11 ID:AB34.1,,,,,peripheral vertigo,DOID:9847,ICD10 ID:H81.3 | ICD10 ID:H81.39, +BMGC_DS01846,BMG_DS002340,,UMLS ID:C0029707,,,,,,,,,personality disorder,DOID:1510,, +BMGC_DS01847,BMG_DS002344,Other specified cardiovascular syphilis,UMLS ID:C0029751,Other specified cardiovascular syphilis | Other specified cardiovascular syphilis (disorder),SNOMEDCT ID:111823001,,,,,,,cardiovascular syphilis,DOID:9880,, +BMGC_DS01848,BMG_DS002345,,UMLS ID:C0029752,,,,,,,,,urethral stricture,DOID:1829,, +BMGC_DS01849,BMG_DS002350,Other specified diseases of hard tissues of teeth,UMLS ID:C0029770,,,Certain specified diseases of hard tissues of teeth,ICD11 ID:DA08.1,,,,,teeth hard tissue disease,DOID:214,ICD10 ID:K03.89 | ICD10 ID:K03.8, +BMGC_DS01850,BMG_DS002351,Other specified diseases of pancreas,UMLS ID:C0029771,,,"Diseases of pancreas, unspecified",ICD11 ID:DC3Z,,,,,pancreas disease,DOID:26,ICD10 ID:K86.8 | ICD10 ID:K86.89, +BMGC_DS01851,BMG_DS002353,,UMLS ID:C0029773,,,,,,,,,salivary gland disease,DOID:10854,, +BMGC_DS01852,BMG_DS002358,Other specified disorders of penis,UMLS ID:C0029785,,,"Disorders of penis, unspecified",ICD11 ID:GB06.Z,,,,,penile disease,DOID:1529,ICD10 ID:N48.8 | ICD10 ID:N48.89, +BMGC_DS01853,BMG_DS002361,,UMLS ID:C0029792,,,,,,,,,drug dependence,DOID:9974,, +BMGC_DS01854,BMG_DS002365,,UMLS ID:C0029799,,,,,,,,,pleurisy,DOID:10247,, +BMGC_DS01855,BMG_DS002366,Other specified gastritis,UMLS ID:C0029800,Other specified gastritis | Other specified gastritis (disorder),SNOMEDCT ID:196737009,,,,,,,gastroduodenitis,DOID:8644,, +BMGC_DS01856,BMG_DS002367,,UMLS ID:C0029801,,,,,,,,,prolapse of female genital organ,DOID:1284,, +BMGC_DS01857,BMG_DS002370,Other specified hemorrhagic conditions,UMLS ID:C0029804,Other specified haemorrhagic conditions | Other specified hemorrhagic conditions | Other specified haemorrhagic conditions (disorder) | Other specified hemorrhagic conditions | Other specified haemorrhagic conditions | Other specified hemorrhagic conditions (disorder),SNOMEDCT ID:154828005 | SNOMEDCT ID:191328005,"Coagulation defects, unspecified",ICD11 ID:3B4Z,,,,,platelet-type bleeding disorder 8 | platelet-type bleeding disorder 3 | platelet-type bleeding disorder 9 | platelet-type bleeding disorder 11,DOID:0111045;DOID:0111056;DOID:0060692;DOID:0111057,ICD10 ID:D69.8, +BMGC_DS01858,BMG_DS002371,,UMLS ID:C0029805,,,,,,,,,acrodermatitis chronica atrophicans,DOID:0060344,, +BMGC_DS01859,BMG_DS002373,,UMLS ID:C0029810,,,,,,,,,iron deficiency anemia,DOID:11758,, +BMGC_DS01860,BMG_DS002379,Other specified peritonitis,UMLS ID:C0029823,Other specified peritonitis | Other specified peritonitis (disorder),SNOMEDCT ID:197183001,,,,,,,peritonitis,DOID:8283,, +BMGC_DS01861,BMG_DS002381,Other specified schistosomiasis,UMLS ID:C0029827,Other specified schistosomiasis | Other specified schistosomiasis (disorder),SNOMEDCT ID:187116001,,,,,,,schistosomiasis,DOID:1395,, +BMGC_DS01862,BMG_DS002383,Other specified strabismus,UMLS ID:C0029831,Other specified strabismus | Other specified strabismus (disorder),SNOMEDCT ID:194125000,Other specified strabismus or ocular motility disorders,ICD11 ID:9C8Y,,,,,strabismus,DOID:540,ICD10 ID:H50.8 | ICD10 ID:H50.89, +BMGC_DS01863,BMG_DS002384,,UMLS ID:C0029834,,,,,,,,,trigeminal nerve disease,DOID:561,, +BMGC_DS01864,BMG_DS002385,Other specified tularemia,UMLS ID:C0029835,Other specified tularaemia | Other specified tularemia | Other specified tularemia (disorder) | Other specified tularemia | Other specified tularemia (disorder),SNOMEDCT ID:186298002 | SNOMEDCT ID:111834003,,,,,,,gastrointestinal tularemia | tularemia,DOID:14239;DOID:2123,, +BMGC_DS01865,BMG_DS002386,Other specified urticaria,UMLS ID:C0029839,Other specified urticaria | Other specified urticaria (disorder) | (Other specified urticaria) or (nettle rash) | Nettle rash | Other specified urticaria | (Other specified urticaria) or (nettle rash) (disorder),SNOMEDCT ID:267817001 | SNOMEDCT ID:201267004,,,,,,,urticaria,DOID:1555,, +BMGC_DS01866,BMG_DS002388,Other specified viral exanthemata,UMLS ID:C0029841,Other specified viral exanthemata | Other specified viral exanthemata (disorder),SNOMEDCT ID:186577001,,,,,,,viral exanthem,DOID:8672,, +BMGC_DS01867,BMG_DS002391,Other spontaneous pneumothorax,UMLS ID:C0029850,Other spontaneous pneumothorax | Other spontaneous pneumothorax (disorder),SNOMEDCT ID:196103008,Other spontaneous pneumothorax,ICD11 ID:CB21.1,,,,,pneumothorax,DOID:1673,ICD10 ID:J93.1, +BMGC_DS01868,BMG_DS002394,,UMLS ID:C0029866,,,,,,,,,ureteral obstruction,DOID:5199,, +BMGC_DS01869,BMG_DS002397,Other vitreous opacities,UMLS ID:C0029872,Other vitreous opacities | Other vitreous opacities (disorder),SNOMEDCT ID:194154006,"Vitreous opacities, membranes or strands",ICD11 ID:9B84,,,,,vitreous disease,DOID:9720,ICD10 ID:H43.3 | ICD10 ID:H43.39, +BMGC_DS01870,BMG_DS002398,Ear Inflammation,UMLS ID:C0029877,,,,,,,Otitis,MeSH ID:D010031,,,, +BMGC_DS01871,BMG_DS002399,Otitis Externa,UMLS ID:C0029878,,,,,otitis externa,MONDO:0004795,Otitis Externa,MeSH ID:D010032,,,, +BMGC_DS01872,BMG_DS002400,Otitis Media,UMLS ID:C0029882,,,,,otitis media,MONDO:0005441,Otitis Media,MeSH ID:D010033,otitis media,DOID:10754,, +BMGC_DS01873,BMG_DS002401,Otitis Media with Effusion,UMLS ID:C0029883,,,,,,,Otitis Media with Effusion,MeSH ID:D010034,,,, +BMGC_DS01874,BMG_DS002402,Suppurative otitis media,UMLS ID:C0029888,"Purulent otitis media | Suppurative otitis media | Purulent otitis media (disorder) | Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media | Purulent otitis media | Otitis media, suppurative | Suppurative otitis med. | Suppurative otitis media | Right otitis media - supp | Left otitis media - supp | Otitis media - purulent | Suppurative otitis media &/or ([left] or [right]) &/or purulent otitis media (disorder)",SNOMEDCT ID:39288006 | SNOMEDCT ID:267758003,,,suppurative otitis media,MONDO:0005975,,,suppurative otitis media,DOID:11506,, +BMGC_DS01875,BMG_DS002403,Otomycosis,UMLS ID:C0029895,Otomycosis | Otomycosis (disorder) | Otomycosis | Otomycosis (disorder) | Otitis mycotic externa,SNOMEDCT ID:275479004 | SNOMEDCT ID:53316003,,,otomycosis,MONDO:0000262,Otomycosis,MeSH ID:D059249,otomycosis,DOID:0050147,, +BMGC_DS01876,BMG_DS002406,Ovarian Cysts,UMLS ID:C0029927,,,,,ovarian cyst,MONDO:0003282,Ovarian Cysts,MeSH ID:D010048,,,, +BMGC_DS01877,BMG_DS002407,Ovarian Diseases,UMLS ID:C0029928,,,,,,,Ovarian Diseases,MeSH ID:D010049,ovarian disease,DOID:1100,, +BMGC_DS01878,BMG_DS002409,Oxyuriasis,UMLS ID:C0030100,Enterobiasis | Oxyuriasis | Pinworm disease | Enterobiasis - threadworm | Pinworm infection | Threadworm infection | Enterobiosis | Enterobiasis (disorder) | (Threadworm enterobiasis) or (oxyuriasis) or (pinworm) | Enterobiasis - threadworm | Pinworm | Oxyuriasis | (Threadworm enterobiasis) or (oxyuriasis) or (pinworm) (disorder) | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | Oxyuriasis | Filaria | Toxocara | Other helminthiases | Trichinosis | Schistosomiasis | Taenia infestation | Flukes | Tapeworms | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | Oxyuriasis | Tapeworms | Taenia infestation | Flukes | Other helminthiases | Filaria | Schistosomiasis | Trichinosis | Toxocara | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | Infection by Enterobius vermicularis | Infection by Enterobius vermicularis (disorder),SNOMEDCT ID:266162007 | SNOMEDCT ID:187178006 | SNOMEDCT ID:266222003 | SNOMEDCT ID:154415009 | SNOMEDCT ID:19722001,,,,,Oxyuriasis,MeSH ID:D010123,enterobiasis,DOID:7457,, +BMGC_DS01879,BMG_DS002411,Pachymeningitis,UMLS ID:C0030167,Pachymeningitis | Pachymeningitis (disorder),SNOMEDCT ID:25822001,,,,,Meningitis,MeSH ID:D008581,,,, +BMGC_DS01880,BMG_DS002413,,UMLS ID:C0030186,,,,,extramammary Paget disease,MONDO:0008177,,,,,,OMIM ID:167300 +BMGC_DS01881,BMG_DS002415,Pustulosis of Palms and Soles,UMLS ID:C0030246,,,,,pustulosis palmaris et plantaris,MONDO:0015597,Psoriasis,MeSH ID:D011565,pustulosis of palm and sole,DOID:4398,, +BMGC_DS01882,BMG_DS002417,,UMLS ID:C0030271,,,,,Pancoast syndrome,MONDO:0024674,,,Pancoast tumor,DOID:8007,, +BMGC_DS01883,BMG_DS002418,Pancreatic Cyst,UMLS ID:C0030283,,,,,,,Pancreatic Cyst,MeSH ID:D010181,,,, +BMGC_DS01884,BMG_DS002419,Pancreatic Diseases,UMLS ID:C0030286,,,,,pancreas disorder,MONDO:0002356,Pancreatic Diseases,MeSH ID:D010182,,,, +BMGC_DS01885,BMG_DS002420,Pancreatic Fistula,UMLS ID:C0030290,,,,,,,Pancreatic Fistula,MeSH ID:D010185,,,, +BMGC_DS01886,BMG_DS002421,,UMLS ID:C0030297,,,,,pancreatic neoplasm,MONDO:0021040,,,pancreatic cancer,DOID:1793,, +BMGC_DS01887,BMG_DS002422,Pancreatic Pseudocyst,UMLS ID:C0030299,,,,,,,Pancreatic Pseudocyst,MeSH ID:D010192,,,, +BMGC_DS01888,BMG_DS002423,Pancreatitis,UMLS ID:C0030305,Pancreatitis | Pancreatitis (disorder) | Inflammation of pancreas | Pancreatitis (& [acute NOS]) | Pancreatitis | Acute pancreatitis NOS | Pancreatitis (& [acute NOS]) (disorder) | Pancreatitis | Pancreatitis (disorder),SNOMEDCT ID:75694006 | SNOMEDCT ID:197461009 | SNOMEDCT ID:393591004,,,pancreatitis,MONDO:0004982,Pancreatitis,MeSH ID:D010195,pancreatitis,DOID:4989,,OMIM ID:MTHU003881 +BMGC_DS01889,BMG_DS002424,Pancytopenia,UMLS ID:C0030312,Pancytopenia | Pancytopenia (disorder),SNOMEDCT ID:127034005,,,pancytopenia,MONDO:0001529,Pancytopenia,MeSH ID:D010198,pancytopenia,DOID:12450,ICD10 ID:D61.81,OMIM ID:MTHU036683 +BMGC_DS01890,BMG_DS002425,,UMLS ID:C0030319,,,,,panic disorder,MONDO:0005383,,,panic disorder,DOID:594,, +BMGC_DS01891,BMG_DS002426,Panniculitis,UMLS ID:C0030326,Panniculitis | Panniculitis (disorder) | Panniculitis | Nonarticular rheumatism NOS | (Nonarticular rheumatism NOS) or (panniculitis) | (Nonarticular rheumatism NOS) or (panniculitis) (disorder) | (Nonarticular rheumatism NOS) or (panniculitis) | Nonarticular rheumatism NOS | Panniculitis | (Nonarticular rheumatism NOS) or (panniculitis) (disorder),SNOMEDCT ID:22125009 | SNOMEDCT ID:156779007 | SNOMEDCT ID:268122002,,,panniculitis,MONDO:0006591,Panniculitis,MeSH ID:D015434,panniculitis,DOID:1526,,OMIM ID:MTHU032395 +BMGC_DS01892,BMG_DS002428,"Panniculitis, Nodular Nonsuppurative",UMLS ID:C0030328,,,,,nodular non-suppurative panniculitis,MONDO:0018063,"Panniculitis, Nodular Nonsuppurative",MeSH ID:D010201,nodular nonsuppurative panniculitis,DOID:1525,, +BMGC_DS01893,BMG_DS002430,"Panniculitis, Subacute Nodular Migratory",UMLS ID:C0030331,,,,,,,Panniculitis,MeSH ID:D015434,,,, +BMGC_DS01894,BMG_DS002431,Panophthalmitis,UMLS ID:C0030332,Panophthalmitis | Panophthalmitis (disorder),SNOMEDCT ID:33382000,,,panophthalmitis,MONDO:0006884,Panophthalmitis,MeSH ID:D010202,panophthalmitis,DOID:13732,, +BMGC_DS01895,BMG_DS002432,Panuveitis,UMLS ID:C0030343,Panuveitis | Panuveitis (disorder) | Diffuse uveitis,SNOMEDCT ID:75614007,,,panuveitis,MONDO:0017255,Panuveitis,MeSH ID:D015864,panuveitis,DOID:12030,ICD10 ID:H44.11,OMIM ID:MTHU068572 +BMGC_DS01896,BMG_DS002433,Papilledema,UMLS ID:C0030353,Papilledema - optic disc edema due to raised intracranial pressure (disorder) | Papilloedema - optic disc oedema due to raised intracranial pressure | Papilledema - optic disc edema due to raised intracranial pressure | Papilloedema due to raised intracranial pressure | Papilledema due to raised intracranial pressure | Papilledema | Papilloedema | Choked disc | Choked disk | Blurring of optic disk | Papilledema (disorder) | Optic disc oedema | Optic disc edema | Papilloedema | Papilledema | Papilloedema (disorder) | Optic disc edema | Optic disc oedema | Edema of optic disc (disorder) | Edema of optic disc,SNOMEDCT ID:423488006 | SNOMEDCT ID:111526001 | SNOMEDCT ID:155187009 | SNOMEDCT ID:423341008,Papilloedema,ICD11 ID:9C40.A0,optic papillitis,MONDO:0006879,Papilledema,MeSH ID:D010211,papilledema | optic papillitis,DOID:146;DOID:10175,ICD10 ID:H47.1,OMIM ID:MTHU007182 +BMGC_DS01897,BMG_DS002434,,UMLS ID:C0030354,,,,,papilloma,MONDO:0002363,,,papilloma,DOID:2615,, +BMGC_DS01898,BMG_DS002435,Papillon-Lefevre Disease,UMLS ID:C0030360,,,,,Papillon-Lefevre disease,MONDO:0009490,Papillon-Lefevre Disease,MeSH ID:D010214,Papillon-Lefevre disease,DOID:3389,,OMIM ID:245000 +BMGC_DS01899,BMG_DS002437,Phlebotomus Fever,UMLS ID:C0030372,,,,,phlebotomus fever,MONDO:0005913,Phlebotomus Fever,MeSH ID:D010217,Phlebotomus fever,DOID:11360,, +BMGC_DS01900,BMG_DS002439,Paracoccidioidomycosis,UMLS ID:C0030409,Paracoccidioidomycosis | South American blastomycosis | Infection by Blastomyces brasiliensis | Infection by Paracoccidioides brasiliensis | Brazilian blastomycosis | Lutz-Splendore-Almeida disease | Paracoccidioidomycosis (disorder),SNOMEDCT ID:59925007,,,paracoccidioidomycosis,MONDO:0005894,Paracoccidioidomycosis,MeSH ID:D010229,paracoccidioidomycosis,DOID:12662,ICD10 ID:B41, +BMGC_DS01901,BMG_DS002440,,UMLS ID:C0030421,,,,,paraganglioma,MONDO:0000448,,,paraganglioma,DOID:0050773,, +BMGC_DS01902,BMG_DS002441,Paragonimiasis,UMLS ID:C0030424,Infection by Paragonimus | Paragonimiasis | Oriental lung fluke disease | Pulmonary distomiasis | Paragonimosis | Pulmonary distomatosis | Lung fluke infection | Lung fluke disease | Pulmonary paragonimiasis | Endemic oriental haemoptysis | Endemic oriental hemoptysis | Infection caused by Paragonimus (disorder) | Infection caused by Paragonimus,SNOMEDCT ID:30369007,Paragonimiasis,ICD11 ID:1F85,paragonimiasis,MONDO:0005895,Paragonimiasis,MeSH ID:D010237,paragonimiasis,DOID:10699,ICD10 ID:B66.4, +BMGC_DS01903,BMG_DS002442,Parakeratosis,UMLS ID:C0030436,Parakeratosis | Parakeratosis (morphologic abnormality) | Parakeratosis | Parakeratosis (disorder),SNOMEDCT ID:65068000 | SNOMEDCT ID:200766001,,,,,Parakeratosis,MeSH ID:D010241,,,,OMIM ID:MTHU002999 +BMGC_DS01904,BMG_DS002443,Parakeratosis Variegata,UMLS ID:C0030437,,,,,,,Parapsoriasis,MeSH ID:D010267,,,, +BMGC_DS01905,BMG_DS002444,Progressive bulbar palsy,UMLS ID:C0030442,Progressive bulbar palsy | Bulbar paralysis | Bulbar palsy | PBP - Progressive bulbar palsy | Progressive bulbar palsy (disorder),SNOMEDCT ID:54304004,,,progressive bulbar palsy,MONDO:0008890,,,progressive bulbar palsy,DOID:681,ICD10 ID:G12.22, +BMGC_DS01906,BMG_DS002445,Familial Periodic Paralysis,UMLS ID:C0030443,,,,,familial periodic paralysis,MONDO:0000995,"Paralyses, Familial Periodic",MeSH ID:D010245,familial periodic paralysis,DOID:1029,, +BMGC_DS01907,BMG_DS002446,Paralytic Ileus,UMLS ID:C0030446,,,,,paralytic ileus,MONDO:0004568,Intestinal Pseudo-Obstruction,MeSH ID:D007418,paralytic ileus,DOID:8442,, +BMGC_DS01908,BMG_DS002447,Parametritis,UMLS ID:C0030455,Parametritis | Parametritis (disorder) | Inflammatory disease of female pelvic organs AND/OR tissues | Inflammatory disease of female pelvic organs AND/OR tissues (disorder),SNOMEDCT ID:280483007 | SNOMEDCT ID:37518008,,,parametritis,MONDO:0006887,Parametritis,MeSH ID:D010249,parametritis,DOID:1260,, +BMGC_DS01909,BMG_DS002449,,UMLS ID:C0030469,,,,,paranasal sinus disorder,MONDO:0001735,,,paranasal sinus disease,DOID:1352,, +BMGC_DS01910,BMG_DS002450,,UMLS ID:C0030470,,,,,paranasal sinus neoplasm,MONDO:0005289,,,paranasal sinus benign neoplasm,DOID:1350,, +BMGC_DS01911,BMG_DS002451,,UMLS ID:C0030472,,,,,paraneoplastic syndrome,MONDO:0021073,,,,,, +BMGC_DS01912,BMG_DS002452,,UMLS ID:C0030477,,,,,paranoid personality disorder,MONDO:0001163,,,paranoid personality disorder,DOID:10938,, +BMGC_DS01913,BMG_DS002453,Tropical Spastic Paraparesis,UMLS ID:C0030481,,,,,tropical spastic paraparesis,MONDO:0008039,"Paraparesis, Tropical Spastic",MeSH ID:D015493,tropical spastic paraparesis,DOID:321,,OMIM ID:159580 +BMGC_DS01914,BMG_DS002455,Paraphimosis,UMLS ID:C0030483,Paraphimosis | Paraphimosis (disorder),SNOMEDCT ID:155922002 | SNOMEDCT ID:13758004,,,paraphimosis,MONDO:0006889,Paraphimosis,MeSH ID:D010263,paraphimosis,DOID:5334,ICD10 ID:N47.2, +BMGC_DS01915,BMG_DS002456,Paraplegia,UMLS ID:C0030486,Paraplegia | Paraplegia (disorder) | Paraplegia | Paralysis of both lower limbs | Lower paraplegia | Paraplegia (disorder) | Paraplegia (complete or partial paralysis of legs),SNOMEDCT ID:155031004 | SNOMEDCT ID:60389000,Paraplegia,ICD11 ID:MB56,paraplegia,MONDO:0003757,Paraplegia,MeSH ID:D010264,paraplegia,DOID:607,ICD10 ID:G82.2,OMIM ID:MTHU036387 +BMGC_DS01916,BMG_DS002458,Parapsoriasis,UMLS ID:C0030491,(Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) | Psoriasis NOS | Guttate psoriasis | Parapsoriasis | (Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) (disorder) | Parapsoriasis | Parapsoriasis (disorder) | (Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) | Guttate psoriasis | Psoriasis NOS | Parapsoriasis | (Psoriasis NOS) or (guttate psoriasis) or (parapsoriasis) (disorder),SNOMEDCT ID:267851002 | SNOMEDCT ID:88233000 | SNOMEDCT ID:200979001 | SNOMEDCT ID:156371008,,,parapsoriasis,MONDO:0006592,Parapsoriasis,MeSH ID:D010267,parapsoriasis,DOID:9088,ICD10 ID:L41, +BMGC_DS01917,BMG_DS002459,Parasitic Diseases,UMLS ID:C0030499,,,,,parasitic infectious disease,MONDO:0005135,Parasitic Diseases,MeSH ID:D010272,,,, +BMGC_DS01918,BMG_DS002460,"Parasitic Diseases, Animal",UMLS ID:C0030500,,,,,"parasitic disease, non-human animal",MONDO:0024969,"Parasitic Diseases, Animal",MeSH ID:D010273,,,, +BMGC_DS01919,BMG_DS002461,Parasomnia,UMLS ID:C0030508,Parasomnia | Parasomnia (disorder) | Parasomnia (sleep disorder),SNOMEDCT ID:58690002,,,,,Parasomnias,MeSH ID:D020447,,,ICD10 ID:G47.5,OMIM ID:MTHU053515 +BMGC_DS01920,BMG_DS002462,Parathyroid Diseases,UMLS ID:C0030517,,,,,,,Parathyroid Diseases,MeSH ID:D010279,parathyroid gland disease,DOID:11201,, +BMGC_DS01921,BMG_DS002463,,UMLS ID:C0030521,,,,,tumor of parathyroid gland,MONDO:0021360,,,parathyroid carcinoma,DOID:1540,, +BMGC_DS01922,BMG_DS002464,Paratuberculosis,UMLS ID:C0030524,Johne's disease | Paratuberculosis | Johne's disease (disorder) | Johne disease,SNOMEDCT ID:12223006,,,paratuberculosis,MONDO:0025449,Paratuberculosis,MeSH ID:D010283,,,, +BMGC_DS01923,BMG_DS002465,Paratyphoid Fever,UMLS ID:C0030528,,,,,paratyphoid fever,MONDO:0018626,Paratyphoid Fever,MeSH ID:D010284,paratyphoid fever,DOID:3055,, +BMGC_DS01924,BMG_DS002466,Paresis,UMLS ID:C0030552,Muscle weakness | Muscle weakness (finding) | Muscle strength reduced | Decreased muscle strength,SNOMEDCT ID:26544005,,,,,Paresis,MeSH ID:D010291,,,,OMIM ID:MTHU074509 +BMGC_DS01925,BMG_DS002467,Paresthesia,UMLS ID:C0030554,Paresthesia | Paraesthesia | Paresthesia (finding) | Paraesthesia (numbness/tingling) | Paresthesia (numbness/tingling),SNOMEDCT ID:91019004,,,,,Paresthesia,MeSH ID:D010292,,,,OMIM ID:MTHU016084 +BMGC_DS01926,BMG_DS002468,Parkinson Disease,UMLS ID:C0030567,,,,,Parkinson disease,MONDO:0005180,Parkinson Disease,MeSH ID:D010300,Parkinson's disease,DOID:14330,, +BMGC_DS01927,BMG_DS002469,"Parkinson Disease, Postencephalitic",UMLS ID:C0030568,,,,,postencephalitic Parkinson disease,MONDO:0001945,"Parkinson Disease, Postencephalitic",MeSH ID:D010301,postencephalitic Parkinson disease,DOID:14332,, +BMGC_DS01928,BMG_DS002470,Secondary Parkinson Disease,UMLS ID:C0030569,,,,,secondary Parkinson disease,MONDO:0006966,"Parkinson Disease, Secondary",MeSH ID:D010302,secondary Parkinson disease,DOID:13548,, +BMGC_DS01929,BMG_DS002471,Paronychia (disorder),UMLS ID:C0030578,Paronychia | Perionychia | Paronychia (disorder),SNOMEDCT ID:71906005,,,paronychia,MONDO:0005898,,,paronychia,DOID:13117,, +BMGC_DS01930,BMG_DS002472,Parotid Diseases,UMLS ID:C0030579,,,,,parotid disorder,MONDO:0005899,Parotid Diseases,MeSH ID:D010305,parotid disease,DOID:10302,, +BMGC_DS01931,BMG_DS002474,Parotitis,UMLS ID:C0030583,Sialoadenitis (& [parotitis]) | Parotitis | Sialoadenitis | Sialoadenitis (& [parotitis]) (disorder) | Parotitis | Parotitis (disorder),SNOMEDCT ID:196481002 | SNOMEDCT ID:14756005,Sialoadenitis,ICD11 ID:DA04.2,parotitis,MONDO:0005900,Parotitis,MeSH ID:D010309,parotitis,DOID:10301,ICD10 ID:K11.2,OMIM ID:MTHU078653 +BMGC_DS01932,BMG_DS002475,Parovarian Cyst,UMLS ID:C0030584,,,,,parovarian cyst,MONDO:0002965,Parovarian Cyst,MeSH ID:D010310,parovarian cyst,DOID:4333,, +BMGC_DS01933,BMG_DS002476,Paroxysmal atrial tachycardia,UMLS ID:C0030587,Atrial paroxysmal tachycardia | Paroxysmal atrial tachycardia | Paroxysmal atrial tachycardia (disorder) | PAT - paroxysmal atrial tachycardia | Supraventricular tachycardia | Parox. supravent. tachycardia | Tachycardia - parox.sup | Paroxysmal atrial tachycardia | Supravent. tach. parox. | Paroxysmal artrial tachycardia | Paroxysmal sup. tachy. | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | Tachycardia - parox.sup | Paroxysmal artrial tachycardia | Paroxysmal sup. tachy. | Paroxysmal atrial tachycardia | Supravent. tach. parox. | Supraventricular tachycardia | Parox. supravent. tachycardia | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder),SNOMEDCT ID:195069001 | SNOMEDCT ID:266305002 | SNOMEDCT ID:155363003,,,,,,,,,, +BMGC_DS01934,BMG_DS002477,Paroxysmal supraventricular tachycardia,UMLS ID:C0030590,Paroxysmal supraventricular tachycardia | Paroxysmal supraventricular tachycardia (disorder),SNOMEDCT ID:67198005,,,,,,,,,,OMIM ID:MTHU060833 +BMGC_DS01935,BMG_DS002479,Pars Planitis,UMLS ID:C0030593,,,,,pars planitis,MONDO:0011644,Pars Planitis,MeSH ID:D015868,pars planitis,DOID:12731,,OMIM ID:606177 +BMGC_DS01936,BMG_DS002481,"Passive Addiction, Neonatal",UMLS ID:C0030623,,,,,,,Neonatal Abstinence Syndrome,MeSH ID:D009357,,,, +BMGC_DS01937,BMG_DS002482,Pasteurella Infections,UMLS ID:C0030636,,,,,pasteurellosis,MONDO:0005901,Pasteurella Infections,MeSH ID:D010326,pasteurellosis,DOID:11055,, +BMGC_DS01938,BMG_DS002483,,UMLS ID:C0030662,,,,,pathological gambling,MONDO:0011662,,,pathological gambling,DOID:12399,,OMIM ID:606349 +BMGC_DS01939,BMG_DS002484,Lice Infestations,UMLS ID:C0030756,,,,,lice infestation,MONDO:0003472,Lice Infestations,MeSH ID:D010373,lice infestation,DOID:5502,, +BMGC_DS01940,BMG_DS002485,Pediculus capitis infestation,UMLS ID:C0030757,Pediculosis capitis | Head lice infestation | Lousy hair | Nits | Pediculus capitis infestation | Lice infested hair | Nit infested hair | Head louse infestation | Head lice | Pediculosis capitis (disorder),SNOMEDCT ID:81000006,,,Pediculus humanus capitis infestation,MONDO:0003471,,,Pediculus humanus capitis infestation,DOID:5501,, +BMGC_DS01941,BMG_DS002486,Body louse infestation,UMLS ID:C0030758,Pediculosis corporis | Body lice | Pediculus corporis infestation | Body louse infestation | Pediculus humanus infestation | Pediculosis corporis (disorder),SNOMEDCT ID:25188002,,,Pediculus humanus corporis infestation,MONDO:0003482,,,Pediculus humanus corporis infestation,DOID:5513,, +BMGC_DS01942,BMG_DS002487,Infestation by Phthirus pubis,UMLS ID:C0030759,Infestation by Phthirus pubis | Pediculosis pubis | Infestation by crab lice | Crabs | Pubic louse infestation | Pubic lice | Crabs infestation | Phthiriasis pubis | Infestation caused by Phthirus pubis | Infestation caused by Phthirus pubis (disorder) | Infestation caused by crab lice,SNOMEDCT ID:71011005,Pthiriasis,ICD11 ID:1G03,Pthirus pubis infestation,MONDO:0001794,,,Pthirus pubis infestation,DOID:13760,ICD10 ID:B85.3, +BMGC_DS01943,BMG_DS002489,Pelger-Huet Anomaly,UMLS ID:C0030779,,,,,Pelger-Huet anomaly,MONDO:0008214,Pelger-Huet Anomaly,MeSH ID:D010381,Pelger-Huet anomaly,DOID:9631,,OMIM ID:169400 +BMGC_DS01944,BMG_DS002490,Peliosis Hepatis,UMLS ID:C0030781,,,,,peliosis hepatis,MONDO:0004717,Peliosis Hepatis,MeSH ID:D010382,peliosis hepatis,DOID:914,, +BMGC_DS01945,BMG_DS002491,Pellagra,UMLS ID:C0030783,Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Pellagra | Thiamine/niacin deficiency | Beriberi | Beri-beri | Thiamine deficiency | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] | Beriberi | Thiamine/niacin deficiency | Beri-beri | Thiamine deficiency | Pellagra | Vitamin deficiency: [thiamine/niacin] or [beriberi] or [pellagra] or [thiamine] (disorder) | Pellagra (disorder) | Pellagra,SNOMEDCT ID:267491008 | SNOMEDCT ID:154725000 | SNOMEDCT ID:418186002,,,pellagra,MONDO:0019975,Pellagra,MeSH ID:D010383,pellagra,DOID:8457,, +BMGC_DS01946,BMG_DS002492,Pelvic abscess,UMLS ID:C0030785,Pelvic abscess | Pelvic abscess (disorder),SNOMEDCT ID:111367007,,,,,,,,,, +BMGC_DS01947,BMG_DS002493,Pelvic Infection,UMLS ID:C0030790,,,,,,,Pelvic Infection,MeSH ID:D034161,,,, +BMGC_DS01948,BMG_DS002494,"Pemphigoid, Benign Mucous Membrane",UMLS ID:C0030804,,,,,mucous membrane pemphigoid,MONDO:0018746,"Pemphigoid, Benign Mucous Membrane",MeSH ID:D010390,cicatricial pemphigoid,DOID:11656,, +BMGC_DS01949,BMG_DS002495,Bullous pemphigoid,UMLS ID:C0030805,Bullous pemphigoid | Bullous pemphigoid (disorder) | BP - Bullous pemphigoid,SNOMEDCT ID:77090002,Bullous pemphigoid,ICD11 ID:EB41.0,bullous pemphigoid,MONDO:0019082,,,bullous pemphigoid,DOID:8506,ICD10 ID:L12.0,OMIM ID:MTHU055608 +BMGC_DS01950,BMG_DS002496,Pemphigus,UMLS ID:C0030807,Pemphigus | Pemphigus (disorder),SNOMEDCT ID:156355008 | SNOMEDCT ID:65172003,,,pemphigus,MONDO:0006594,Pemphigus,MeSH ID:D010392,pemphigus,DOID:9182,ICD10 ID:L10, +BMGC_DS01951,BMG_DS002497,Pemphigus Vulgaris,UMLS ID:C0030809,,,,,pemphigus vulgaris,MONDO:0008219,Pemphigus,MeSH ID:D010392,pemphigus vulgaris,DOID:0060851,,OMIM ID:169610 +BMGC_DS01952,BMG_DS002499,Penile Diseases,UMLS ID:C0030846,,,,,penile disorder,MONDO:0002036,Penile Diseases,MeSH ID:D010409,,,, +BMGC_DS01953,BMG_DS002500,Peyronie Disease,UMLS ID:C0030848,,,,,Peyronie disease,MONDO:0008231,Penile Induration,MeSH ID:D010411,Peyronie's disease,DOID:8616,,OMIM ID:171000 +BMGC_DS01954,BMG_DS002501,,UMLS ID:C0030849,,,,,penile neoplasm,MONDO:0006895,,,penile benign neoplasm,DOID:11624,, +BMGC_DS01955,BMG_DS002502,Peptic Ulcer,UMLS ID:C0030920,,,,,peptic ulcer disease,MONDO:0004247,Peptic Ulcer,MeSH ID:D010437,peptic ulcer disease,DOID:750,, +BMGC_DS01956,BMG_DS002503,Peptic Ulcer Perforation,UMLS ID:C0030925,,,,,peptic ulcer perforation,MONDO:0004260,Peptic Ulcer Perforation,MeSH ID:D010439,peptic ulcer perforation,DOID:752,, +BMGC_DS01957,BMG_DS002506,Suppurative Periapical Periodontitis,UMLS ID:C0031024,,,,,suppurative periapical periodontitis,MONDO:0006989,Periapical Abscess,MeSH ID:D010482,suppurative periapical periodontitis,DOID:2562,, +BMGC_DS01958,BMG_DS002508,Periapical Granuloma,UMLS ID:C0031029,,,,,periapical granuloma,MONDO:0006897,Periapical Granuloma,MeSH ID:D010484,periapical granuloma,DOID:4617,, +BMGC_DS01959,BMG_DS002509,Periapical Periodontitis,UMLS ID:C0031030,,,,,periapical periodontitis,MONDO:0004508,Periapical Periodontitis,MeSH ID:D010485,periapical periodontitis,DOID:823,, +BMGC_DS01960,BMG_DS002512,Polyarteritis Nodosa,UMLS ID:C0031036,,,,,polyarteritis nodosa,MONDO:0019170,Polyarteritis Nodosa,MeSH ID:D010488,polyarteritis nodosa,DOID:9810,, +BMGC_DS01961,BMG_DS002513,Periarthritis,UMLS ID:C0031037,Periarthritis | Periarthritis (disorder),SNOMEDCT ID:50921008,,,periarthritis,MONDO:0006898,Periarthritis,MeSH ID:D010489,periarthritis,DOID:2964,, +BMGC_DS01962,BMG_DS002514,Pericardial effusion,UMLS ID:C0031039,Pericardial effusion (disorder) | Pericardial effusion | Hydropericardium | Pericardial effusion | Pericardial effusion (disorder),SNOMEDCT ID:373945007 | SNOMEDCT ID:70370001,,,pericardial effusion,MONDO:0001370,,,pericardial effusion,DOID:118,,OMIM ID:MTHU005040 +BMGC_DS01963,BMG_DS002515,Pericarditis,UMLS ID:C0031046,Pericarditis | Pericarditis (disorder),SNOMEDCT ID:3238004,,,pericarditis,MONDO:0005904,Pericarditis,MeSH ID:D010493,pericarditis,DOID:1787,,OMIM ID:MTHU011706 +BMGC_DS01964,BMG_DS002516,"Pericarditis, Constrictive",UMLS ID:C0031048,,,,,constrictive pericarditis,MONDO:0006711,"Pericarditis, Constrictive",MeSH ID:D010494,constrictive pericarditis,DOID:11481,, +BMGC_DS01965,BMG_DS002518,Pericementitis,UMLS ID:C0031051,,,,,,,Periodontitis,MeSH ID:D010518,,,, +BMGC_DS01966,BMG_DS002519,Pericholangitis,UMLS ID:C0031052,Pericholangitis | Pericholangitis (disorder),SNOMEDCT ID:111373008,,,pericholangitis,MONDO:0001931,,,pericholangitis,DOID:14272,, +BMGC_DS01967,BMG_DS002521,Pericoronitis,UMLS ID:C0031055,Pericoronitis | Pericoronitis (disorder),SNOMEDCT ID:22240003,,,pericoronitis,MONDO:0006899,Pericoronitis,MeSH ID:D010497,pericoronitis,DOID:3671,, +BMGC_DS01968,BMG_DS002522,Perinephritis,UMLS ID:C0031065,Perinephritis | Perinephritis (disorder),SNOMEDCT ID:111404004,,,perinephritis,MONDO:0006900,Perinephritis,MeSH ID:D010501,perinephritis,DOID:2982,, +BMGC_DS01969,BMG_DS002523,Familial Mediterranean Fever,UMLS ID:C0031069,,,,,familial Mediterranean fever,MONDO:0018088,Familial Mediterranean Fever,MeSH ID:D010505,familial Mediterranean fever,DOID:2987,, +BMGC_DS01970,BMG_DS002525,Periodontal Diseases,UMLS ID:C0031090,,,,,periodontal disorder,MONDO:0002635,Periodontal Diseases,MeSH ID:D010510,periodontal disease,DOID:3388,, +BMGC_DS01971,BMG_DS002526,Periodontitis,UMLS ID:C0031099,(Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) | Gingival/periodontal dis. NOS | Gingival and periodontal disease NOS | Giant cell epulis | Periodontitis | (Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) (disorder) | Periodontitis | Giant cell epulis | Gingival/periodontal dis. NOS | Gingival and periodontal disease NOS | (Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) | (Gingival and periodontal disease NOS) or (giant cell epulis) or (periodontitis) (disorder) | Periodontitis | Periodontitis (disorder),SNOMEDCT ID:155648008 | SNOMEDCT ID:266491004 | SNOMEDCT ID:41565005,,,periodontitis,MONDO:0005076,Periodontitis,MeSH ID:D010518,periodontitis,DOID:824,,OMIM ID:MTHU009733 +BMGC_DS01972,BMG_DS002527,Aggressive Periodontitis,UMLS ID:C0031106,,,,,,,Aggressive Periodontitis,MeSH ID:D010520,aggressive periodontitis,DOID:1474,, +BMGC_DS01973,BMG_DS002528,Periostitis,UMLS ID:C0031111,Periostitis | Periosteitis fibrosa | Periostitis (disorder),SNOMEDCT ID:41910004,,,periostitis,MONDO:0004934,Periostitis,MeSH ID:D010522,periostitis,DOID:9957,, +BMGC_DS01974,BMG_DS002529,,UMLS ID:C0031115,,,,,,,,,peripheral vascular disease,DOID:341,, +BMGC_DS01975,BMG_DS002530,,UMLS ID:C0031117,,,,,peripheral neuropathy,MONDO:0005244,,,peripheral nervous system disease,DOID:574,, +BMGC_DS01976,BMG_DS002531,,UMLS ID:C0031118,,,,,peripheral nervous system neoplasm,MONDO:0001406,,,peripheral nervous system neoplasm,DOID:1192,, +BMGC_DS01977,BMG_DS002534,Periphlebitis,UMLS ID:C0031129,Periphlebitis | Periphlebitis (disorder),SNOMEDCT ID:36675003,,,,,Phlebitis,MeSH ID:D010689,,,, +BMGC_DS01978,BMG_DS002537,,UMLS ID:C0031149,,,,,peritoneal neoplasm,MONDO:0006901,,,,,, +BMGC_DS01979,BMG_DS002538,,UMLS ID:C0031154,,,,,peritonitis,MONDO:0004522,,,,,, +BMGC_DS01980,BMG_DS002539,Peritonsillar Abscess,UMLS ID:C0031157,,,,,peritonsillar abscess,MONDO:0005906,Peritonsillar Abscess,MeSH ID:D000039,,,, +BMGC_DS01981,BMG_DS002542,Persistent Fetal Circulation Syndrome,UMLS ID:C0031190,,,,,persistent fetal circulation syndrome,MONDO:0022430,Persistent Fetal Circulation Syndrome,MeSH ID:D010547,persistent fetal circulation syndrome,DOID:13042,, +BMGC_DS01982,BMG_DS002545,Peutz-Jeghers Syndrome,UMLS ID:C0031269,,,,,Peutz-Jeghers syndrome,MONDO:0008280,Peutz-Jeghers Syndrome,MeSH ID:D010580,Peutz-Jeghers syndrome,DOID:3852,,OMIM ID:175200 +BMGC_DS01983,BMG_DS002546,Phagocyte Bactericidal Dysfunction,UMLS ID:C0031306,,,,,phagocyte bactericidal dysfunction,MONDO:0005910,Phagocyte Bactericidal Dysfunction,MeSH ID:D010585,phagocyte bactericidal dysfunction,DOID:3262,, +BMGC_DS01984,BMG_DS002547,Pharyngeal Diseases,UMLS ID:C0031345,,,,,disorder of pharynx,MONDO:0020592,Pharyngeal Diseases,MeSH ID:D010608,pharyngitis,DOID:2275,, +BMGC_DS01985,BMG_DS002548,,UMLS ID:C0031347,,,,,pharynx neoplasm,MONDO:0021246,,,pharynx cancer,DOID:0060119,, +BMGC_DS01986,BMG_DS002549,Pharyngitis,UMLS ID:C0031350,Pharyngitis | Sore throat | Irritation of the throat | Pharyngeal pain | Throat infection | Throat infection - pharyngitis | Throat soreness | Pharyngitis (disorder) | Pharyngitis (disorder) | Pharyngitis,SNOMEDCT ID:37616004 | SNOMEDCT ID:405737000,,,pharyngitis,MONDO:0002258,Pharyngitis,MeSH ID:D010612,pharyngitis,DOID:2275,,OMIM ID:MTHU007438 +BMGC_DS01987,BMG_DS002550,Pharyngo-Conjunctival Fever,UMLS ID:C0031351,,,,,pharyngoconjunctival fever,MONDO:0005911,"Adenovirus Infections, Human",MeSH ID:D000258,pharyngoconjunctival fever,DOID:13801,, +BMGC_DS01988,BMG_DS002551,,UMLS ID:C0031391,,,,,phencyclidine abuse,MONDO:0005912,,,phencyclidine abuse,DOID:5062,, +BMGC_DS01989,BMG_DS002552,Phenylketonurias,UMLS ID:C0031485,,,,,phenylketonuria,MONDO:0009861,Phenylketonurias,MeSH ID:D010661,phenylketonuria,DOID:9281,,OMIM ID:261600 +BMGC_DS01990,BMG_DS002553,,UMLS ID:C0031511,,,,,pheochromocytoma,MONDO:0008233,,,,,,OMIM ID:171300 +BMGC_DS01991,BMG_DS002554,,UMLS ID:C0031538,,,,,,,,,phimosis,DOID:2712,, +BMGC_DS01992,BMG_DS002555,,UMLS ID:C0031542,,,,,phlebitis,MONDO:0004625,,,phlebitis,DOID:864,, +BMGC_DS01993,BMG_DS002556,Phlegmasia Alba Dolens,UMLS ID:C0031556,,,,,,,Thrombophlebitis,MeSH ID:D013924,,,, +BMGC_DS01994,BMG_DS002557,,UMLS ID:C0031572,,,,,social phobia,MONDO:0001247,,,social phobia,DOID:11257,, +BMGC_DS01995,BMG_DS002558,Phosphorus Metabolism Disorders,UMLS ID:C0031707,,,,,phosphorus metabolism disease,MONDO:0002319,Phosphorus Metabolism Disorders,MeSH ID:D010760,phosphorus metabolism disease,DOID:2485,, +BMGC_DS01996,BMG_DS002559,Polymorphous light eruption,UMLS ID:C0031736,Polymorphous light eruption | Polymorphous light eruption (disorder) | Photodermatitis due to sun | Polymorphous light eruption (disorder) | Polymorphous light eruption | Polymorphic light eruption | Polymorphous light eruption | Polymorphic photodermatitis | Polymorphic light eruption (disorder) | Pruritus estivalis | Pruritus aestivalis | PLE - polymorphic light eruption,SNOMEDCT ID:61064008 | SNOMEDCT ID:367484009 | SNOMEDCT ID:238525001,Polymorphic light eruption,ICD11 ID:EJ30.0,polymorphic light eruption,MONDO:0041182,,,,,ICD10 ID:L56.4, +BMGC_DS01997,BMG_DS002560,Photosensitivity Disorders,UMLS ID:C0031762,,,,,photosensitivity disease,MONDO:0006597,Photosensitivity Disorders,MeSH ID:D010787,photosensitivity disease,DOID:3159,, +BMGC_DS01998,BMG_DS002562,,UMLS ID:C0031873,,,,,pica disease,MONDO:0001441,,,pica disease,DOID:12128,, +BMGC_DS01999,BMG_DS002563,Pick Disease of Heart,UMLS ID:C0031876,,,,,,,"Pericarditis, Constrictive",MeSH ID:D010494,,,, +BMGC_DS02000,BMG_DS002564,Obesity Hypoventilation Syndrome,UMLS ID:C0031880,,,,,obesity-hypoventilation syndrome,MONDO:0009763,Obesity Hypoventilation Syndrome,MeSH ID:D010845,,,,OMIM ID:257500 +BMGC_DS02001,BMG_DS002566,Piedra,UMLS ID:C0031898,Piedra (disorder) | Piedra | Coccidioidomycosis | Other mycoses | Sporotrichosis | Mycoses - other | Piedra | Histoplasmosis | Aspergillosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder) | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) | Aspergillosis | Mycoses - other | Histoplasmosis | Other mycoses | Piedra | Sporotrichosis | Coccidioidomycosis | Other mycoses (& [aspergillosis] or [coccidioidomycosis] or [histoplasmosis] or [piedra] or [sporotrichosis]) (disorder),SNOMEDCT ID:402135006 | SNOMEDCT ID:266218008 | SNOMEDCT ID:154408001,,,piedra,MONDO:0000253,Piedra,MeSH ID:D010854,white piedra | superficial mycosis | black piedra,DOID:13902;DOID:0050133;DOID:12711,, +BMGC_DS02002,BMG_DS002567,,UMLS ID:C0031900,,,,,isolated Pierre-Robin syndrome,MONDO:0009869,,,Weissenbacher-Zweymuller syndrome,DOID:4258,,OMIM ID:261800 +BMGC_DS02003,BMG_DS002569,,UMLS ID:C0031925,,,,,pilonidal sinus,MONDO:0008249,,,,,,OMIM ID:173000 +BMGC_DS02004,BMG_DS002570,,UMLS ID:C0031941,,,,,,,,,pineal gland cancer,DOID:5032,, +BMGC_DS02005,BMG_DS002571,Pinta,UMLS ID:C0031946,Pinta | Azul | Infection by Treponema carateum | Carate | Pinta (disorder) | Mal del pinto,SNOMEDCT ID:22064009,,,pinta disease,MONDO:0000979,Pinta,MeSH ID:D010874,pinta disease,DOID:1022,, +BMGC_DS02006,BMG_DS002572,,UMLS ID:C0032000,,,,,pituitary gland adenoma,MONDO:0006373,,,pituitary adenoma,DOID:3829,, +BMGC_DS02007,BMG_DS002573,Pituitary Apoplexy,UMLS ID:C0032001,,,,,pituitary apoplexy,MONDO:0006908,Pituitary Apoplexy,MeSH ID:D010899,pituitary apoplexy,DOID:1129,, +BMGC_DS02008,BMG_DS002574,Pituitary Diseases,UMLS ID:C0032002,,,,,pituitary gland disorder,MONDO:0003381,Pituitary Diseases,MeSH ID:D010900,,,, +BMGC_DS02009,BMG_DS002575,,UMLS ID:C0032019,,,,,pituitary tumor,MONDO:0017611,,,pituitary cancer,DOID:1785,, +BMGC_DS02010,BMG_DS002576,Pityriasis,UMLS ID:C0032024,Pityriasis | Pityriasis (disorder),SNOMEDCT ID:34630004 | SNOMEDCT ID:274133009 | SNOMEDCT ID:156372001,,,obsolete pityriasis,MONDO:0024248,Pityriasis,MeSH ID:D010915,,,, +BMGC_DS02011,BMG_DS002577,Pityriasis Rosea,UMLS ID:C0032026,,,,,pityriasis rosea,MONDO:0006601,Pityriasis Rosea,MeSH ID:D017515,pityriasis rosea,DOID:8892,, +BMGC_DS02012,BMG_DS002578,Pityriasis Rubra Pilaris,UMLS ID:C0032027,,,,,pityriasis rubra pilaris,MONDO:0100017,Pityriasis Rubra Pilaris,MeSH ID:D010916,pityriasis rubra pilaris,DOID:9212,, +BMGC_DS02013,BMG_DS002579,,UMLS ID:C0032044,,,,,placenta accreta,MONDO:0005916,,,placenta accreta,DOID:4744,, +BMGC_DS02014,BMG_DS002580,,UMLS ID:C0032045,,,,,placenta disorder,MONDO:0005917,,,placenta disease,DOID:780,, +BMGC_DS02015,BMG_DS002581,,UMLS ID:C0032046,,,,,placenta praevia,MONDO:0005918,,,placenta praevia,DOID:11060,, +BMGC_DS02016,BMG_DS002582,Placental Insufficiency,UMLS ID:C0032051,,,,,placental insufficiency,MONDO:0005919,Placental Insufficiency,MeSH ID:D010927,placental insufficiency,DOID:3891,, +BMGC_DS02017,BMG_DS002584,Plague,UMLS ID:C0032064,Plague | Infection by Yersinia pestis | Pest | Pestilential fever | Black death | Plague (disorder),SNOMEDCT ID:58750007,,,plague,MONDO:0019095,Plague,MeSH ID:D010930,plague,DOID:3482,ICD10 ID:A20, +BMGC_DS02018,BMG_DS002587,,UMLS ID:C0032131,,,,,plasmacytoma,MONDO:0005615,,,plasmacytoma,DOID:3721,, +BMGC_DS02019,BMG_DS002588,Platelet Storage Pool Deficiency,UMLS ID:C0032197,,,,,platelet storage pool deficiency,MONDO:0008495,Platelet Storage Pool Deficiency,MeSH ID:D010981,platelet storage pool deficiency,DOID:2223,,OMIM ID:185050 +BMGC_DS02020,BMG_DS002589,Pleural Diseases,UMLS ID:C0032226,,,,,pleural disorder,MONDO:0002037,Pleural Diseases,MeSH ID:D010995,pleural disease,DOID:1532,, +BMGC_DS02021,BMG_DS002590,,UMLS ID:C0032229,,,,,pleural neoplasm,MONDO:0021065,,,pleural cancer,DOID:5158,, +BMGC_DS02022,BMG_DS002591,Pleurisy,UMLS ID:C0032231,Pleurisy | Pleuritis | Pleurisy (disorder) | (Pleurisy) or (adhesions - pleural) | Pleurisy | Adhesions - pleural | (Pleurisy) or (adhesions - pleural) (disorder) | Pleurisy | Pleurisy (disorder),SNOMEDCT ID:196075003 | SNOMEDCT ID:266406002 | SNOMEDCT ID:32203001,Pleurisy,ICD11 ID:MD31,pleurisy,MONDO:0000986,Pleurisy,MeSH ID:D010998,,,ICD10 ID:R09.1,OMIM ID:MTHU075704 +BMGC_DS02023,BMG_DS002592,"Pleurodynia, Epidemic",UMLS ID:C0032238,,,,,epidemic pleurodynia,MONDO:0005751,"Pleurodynia, Epidemic",MeSH ID:D011000,epidemic pleurodynia,DOID:10882,, +BMGC_DS02024,BMG_DS002593,Pleuropneumonia,UMLS ID:C0032241,Pleurobronchopneumonia | Pleuropneumonia | Pleurobronchopneumonia (disorder),SNOMEDCT ID:60485005,,,pleuropneumonia,MONDO:0001940,Pleuropneumonia,MeSH ID:D011001,pleuropneumonia,DOID:14319,, +BMGC_DS02025,BMG_DS002596,Pneumatosis Cystoides Intestinalis,UMLS ID:C0032266,,,,,pneumatosis cystoides intestinalis,MONDO:0006912,Pneumatosis Cystoides Intestinalis,MeSH ID:D011006,pneumatosis cystoides intestinalis,DOID:13249,, +BMGC_DS02026,BMG_DS002598,Pneumococcal Infections,UMLS ID:C0032269,,,,,pneumococcal infection,MONDO:0005114,Pneumococcal Infections,MeSH ID:D011008,,,, +BMGC_DS02027,BMG_DS002599,Pneumoconiosis,UMLS ID:C0032273,Pneumoconiosis | Pneumoconiosis (disorder) | Pneumoconiosis | Pneumoconiosis (disorder) | PK - Pneumoconiosis | Lung disease: [pneumoconioses] or [occupational] or [due to external agents] | Lung disease due to external agents | Pneumoconiosis | Occupational lung disease | Pneumoconioses | Lung disease: [pneumoconioses] or [occupational] or [due to external agents] (disorder),SNOMEDCT ID:155587002 | SNOMEDCT ID:40122008 | SNOMEDCT ID:196004000,,,pneumoconiosis,MONDO:0015926,Pneumoconiosis,MeSH ID:D011009,pneumoconiosis,DOID:10316,, +BMGC_DS02028,BMG_DS002601,Pneumonia,UMLS ID:C0032285,Pneumonia | Pneumonia (disorder) | Pneumonia and influenza &/or pneumonia | Pneumonia | Pneumonia and influenza | Pneumonia and influenza &/or pneumonia (disorder),SNOMEDCT ID:60363000 | SNOMEDCT ID:155548002 | SNOMEDCT ID:266391003 | SNOMEDCT ID:233604007,,,pneumonia,MONDO:0005249,Pneumonia,MeSH ID:D011014,pneumonia,DOID:552,,OMIM ID:MTHU002638 +BMGC_DS02029,BMG_DS002603,Aspiration Pneumonia,UMLS ID:C0032290,,,,,aspiration pneumonia,MONDO:0000265,"Pneumonia, Aspiration",MeSH ID:D011015,aspiration pneumonitis | aspiration pneumonia,DOID:0050152;DOID:3240,, +BMGC_DS02030,BMG_DS002605,"Pneumonia, Lipid",UMLS ID:C0032298,,,,,lipid pneumonia,MONDO:0005826,"Pneumonia, Lipid",MeSH ID:D011017,lipid pneumonia,DOID:3241,, +BMGC_DS02031,BMG_DS002606,Lobar Pneumonia,UMLS ID:C0032300,,,,,,,Pneumonia,MeSH ID:D011014,,,, +BMGC_DS02032,BMG_DS002607,Mycoplasma pneumonia,UMLS ID:C0032302,Mycoplasma pneumonia | Endemic pneumonia | Mycoplasma pneumoniae pneumonia | Mycoplasmal pneumonia | Eaton's agent pneumonia | Pneumonia caused by Mycoplasma pneumoniae | Primary atypical pneumonia caused by Mycoplasma pneumoniae | Pneumonia caused by Mycoplasma pneumoniae (disorder),SNOMEDCT ID:46970008,,,Mycoplasma pneumoniae pneumonia,MONDO:0005867,,,,,, +BMGC_DS02033,BMG_DS002610,Staphylococcal Pneumonia,UMLS ID:C0032308,,,,,staphylococcal pneumonia,MONDO:0005970,"Pneumonia, Staphylococcal",MeSH ID:D011023,,,, +BMGC_DS02034,BMG_DS002611,"Pneumonia, Viral",UMLS ID:C0032310,,,,,viral pneumonia,MONDO:0006012,"Pneumonia, Viral",MeSH ID:D011024,viral pneumonia,DOID:10533,, +BMGC_DS02035,BMG_DS002612,Pneumopericardium,UMLS ID:C0032319,Pneumopericardium | Pneumopericardium (disorder),SNOMEDCT ID:389994007 | SNOMEDCT ID:390745009 | SNOMEDCT ID:82542004,,,,,Pneumopericardium,MeSH ID:D011026,,,, +BMGC_DS02036,BMG_DS002614,Pneumothorax,UMLS ID:C0032326,Pneumothorax | Pneumothorax (disorder),SNOMEDCT ID:36118008 | SNOMEDCT ID:155609008,,,pneumothorax,MONDO:0002076,Pneumothorax,MeSH ID:D011030,,,,OMIM ID:MTHU016219 +BMGC_DS02037,BMG_DS002615,Rothmund-Thomson syndrome,UMLS ID:C0032339,Rothmund-Thomson syndrome | Rothmund-Thomson syndrome (disorder) | Rothmund-Thomson syndrome | Poikiloderma congenitale syndrome | Rothmund-Thomson syndrome (disorder) | Poikiloderma congenitale,SNOMEDCT ID:205572001 | SNOMEDCT ID:205565002 | SNOMEDCT ID:69093006,,,Rothmund-Thomson syndrome,MONDO:0010002,,,Rothmund-Thomson syndrome,DOID:2732,, +BMGC_DS02038,BMG_DS002616,"Dermatitis, Toxicodendron",UMLS ID:C0032342,,,,,toxicodendron dermatitis,MONDO:0006616,"Dermatitis, Toxicodendron",MeSH ID:D011040,toxicodendron dermatitis,DOID:3819,, +BMGC_DS02039,BMG_DS002617,Poland Syndrome,UMLS ID:C0032357,,,,,Poland syndrome,MONDO:0008262,Poland Syndrome,MeSH ID:D011045,Poland syndrome,DOID:12961,,OMIM ID:173800 +BMGC_DS02040,BMG_DS002618,Poliomyelitis,UMLS ID:C0032371,Acute poliomyelitis (disorder) | Acute poliomyelitis | Polio | PM - Poliomyelitis | Poliomyelitis | Poliomyelitis | Poliomyelitis (disorder) | Acute poliomyelitis | Infantile paralysis | Poliomyelitis | Epidemic acute poliomyelitis | PM - Poliomyelitis | Polio | Anterior acute poliomyelitis | Acute poliomyelitis (disorder) | Acute poliomyelitis | Epidemic acute poliomyelitis | Poliomyelitis | Infantile paralysis | Anterior acute poliomyelitis | PM - Poliomyelitis | Polio | Acute poliomyelitis (disorder),SNOMEDCT ID:398102009 | SNOMEDCT ID:367318001 | SNOMEDCT ID:186475007 | SNOMEDCT ID:54839009,,,poliomyelitis,MONDO:0017373,Poliomyelitis,MeSH ID:D011051,poliomyelitis,DOID:4953,, +BMGC_DS02041,BMG_DS002620,"Polychondritis, Relapsing",UMLS ID:C0032453,,,,,relapsing polychondritis,MONDO:0019125,"Polychondritis, Relapsing",MeSH ID:D011081,relapsing polychondritis,DOID:2556,, +BMGC_DS02042,BMG_DS002621,Polycystic Ovary Syndrome,UMLS ID:C0032460,,,,,polycystic ovary syndrome,MONDO:0008487,Polycystic Ovary Syndrome,MeSH ID:D011085,polycystic ovary syndrome,DOID:11612,,OMIM ID:184700 +BMGC_DS02043,BMG_DS002622,Polycythemia,UMLS ID:C0032461,Erythrocytosis | Polycythemia | Polycythaemia | Erythrocytosis (disorder),SNOMEDCT ID:127062003,,,polycythemia,MONDO:0005571,Polycythemia,MeSH ID:D011086,polycythemia,DOID:8432,,OMIM ID:MTHU006480 +BMGC_DS02044,BMG_DS002623,,UMLS ID:C0032463,,,,,acquired polycythemia vera,MONDO:0009891,,,polycythemia vera,DOID:8997,,OMIM ID:263300 +BMGC_DS02045,BMG_DS002624,Polymenorrhea,UMLS ID:C0032519,Polymenorrhea | Unusually frequent menses | Polymenorrhoea | Epimenorrhoea | Epimenorrhea | Polymenorrhea (finding) | Abnormally frequent menstruation | Frequent periods | (Polymenorrhea) or (epimenorrhea) or (frequent periods) | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) | Epimenorrhea | Polymenorrhea | Polymenorrhoea | Epimenorrhoea | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) (finding) | (Polymenorrhea) or (epimenorrhea) or (frequent periods) | Frequent periods | Epimenorrhoea | Polymenorrhoea | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) | Epimenorrhea | Polymenorrhea | (Polymenorrhoea) or (epimenorrhoea) or (frequent periods) (disorder),SNOMEDCT ID:52754008 | SNOMEDCT ID:156043009 | SNOMEDCT ID:266671004,"Menstrual cycle bleeding disorders, unspecified",ICD11 ID:GA20.Z,,,Menstruation Disturbances,MeSH ID:D008599,,,ICD10 ID:N92.0, +BMGC_DS02046,BMG_DS002625,Polymyalgia Rheumatica,UMLS ID:C0032533,,,,,polymyalgia rheumatica,MONDO:0019735,Polymyalgia Rheumatica,MeSH ID:D011111,polymyalgia rheumatica,DOID:853,, +BMGC_DS02047,BMG_DS002626,Polyneuritis,UMLS ID:C0032541,Polyneuritis | Polyneuritis (disorder) | Polyneuritis | Polyneuritis (disorder) | Inflammatory polyneuropathy,SNOMEDCT ID:300951006 | SNOMEDCT ID:76886005,,,polyneuritis,MONDO:0021718,Neuritis,MeSH ID:D009443,,,,OMIM ID:MTHU068156 +BMGC_DS02048,BMG_DS002628,,UMLS ID:C0032578,,,,,polyploidy,MONDO:0019934,,,,,, +BMGC_DS02049,BMG_DS002629,,UMLS ID:C0032580,,,,,classic familial adenomatous polyposis,MONDO:0021055,,,familial adenomatous polyposis,DOID:0050424,, +BMGC_DS02050,BMG_DS002630,,UMLS ID:C0032584,,,,,polyp,MONDO:0005079,,,,,, +BMGC_DS02051,BMG_DS002631,Polyradiculopathy,UMLS ID:C0032586,Polyradiculopathy | Polyradiculopathy (disorder),SNOMEDCT ID:75572007,,,polyradiculopathy,MONDO:0002960,Polyradiculopathy,MeSH ID:D011128,polyradiculopathy,DOID:4307,, +BMGC_DS02052,BMG_DS002632,Polyradiculoneuropathy,UMLS ID:C0032587,Polyradiculoneuropathy | Polyradiculoneuropathy (disorder),SNOMEDCT ID:128078004,,,polyradiculoneuropathy,MONDO:0006915,Polyradiculoneuropathy,MeSH ID:D011129,polyradiculoneuropathy,DOID:4308,, +BMGC_DS02053,BMG_DS002633,Vesicular eczema of hands and/or feet,UMLS ID:C0032633,Vesicular eczema of hands and/or feet (disorder) | Vesicular eczema of hands and/or feet | Cheiropodopompholyx | Pompholyx | Pompholyx eczema | Vesicular eczema of hands and feet | Dyshidrotic dermatitis | Dyshidrotic eczema | Dyshidria,SNOMEDCT ID:402567004,,,dyshidrosis,MONDO:0006540,,,pompholyx,DOID:9230,, +BMGC_DS02054,BMG_DS002634,,UMLS ID:C0032650,,,,,popliteal cyst,MONDO:0008288,,,,,,OMIM ID:175750 +BMGC_DS02055,BMG_DS002636,,UMLS ID:C0032708,,,,,porphyrin metabolism disease,MONDO:0037821,,,porphyria,DOID:13268,, +BMGC_DS02056,BMG_DS002639,Postgastrectomy Syndromes,UMLS ID:C0032763,,,,,postgastrectomy syndrome,MONDO:0004566,Postgastrectomy Syndromes,MeSH ID:D011178,postgastrectomy syndrome,DOID:8439,, +BMGC_DS02057,BMG_DS002640,Postherpetic neuralgia,UMLS ID:C0032768,Postherpetic neuralgia | Postherpetic neuralgia (disorder) | PHN - Post-herpetic neuralgia | Post-zoster neuralgia | (Herpes zoster with other CNS complication) or (postherpetic neuralgia) | Herpes zoster with other central nervous system complication | (Herpes zoster with other CNS complication) or (postherpetic neuralgia) (disorder),SNOMEDCT ID:2177002 | SNOMEDCT ID:186516001,,,postherpetic neuralgia,MONDO:0041052,,,,,, +BMGC_DS02058,BMG_DS002643,Postphlebitic Syndrome,UMLS ID:C0032807,,,,,post-thrombotic syndrome,MONDO:0005928,Postphlebitic Syndrome,MeSH ID:D011186,post-thrombotic syndrome,DOID:2364,, +BMGC_DS02059,BMG_DS002649,Prader-Willi Syndrome,UMLS ID:C0032897,(Multiple system congenital anomalies NEC) or (Prader-Willi syndrome) or (Noonan's syndrome) | Prader-Willi Syndrome | Prader-Willi syndrome | Prader - Willi syndrome | Multiple system congenital anomalies NEC | Noonan's syndrome | (Multiple system congenital anomalies NEC) or (Prader-Willi syndrome) or (Noonan's syndrome) (disorder),SNOMEDCT ID:205794007,,,Prader-Willi syndrome,MONDO:0008300,Prader-Willi Syndrome,MeSH ID:D011218,Prader-Willi syndrome,DOID:11983,,OMIM ID:176270 +BMGC_DS02060,BMG_DS002650,,UMLS ID:C0032914,,,,,preeclampsia,MONDO:0005081,,,pre-eclampsia,DOID:10591,, +BMGC_DS02061,BMG_DS002654,,UMLS ID:C0032962,,,,,,,,,placenta disease,DOID:780,, +BMGC_DS02062,BMG_DS002655,"Pregnancy Complications, Cardiovascular",UMLS ID:C0032963,,,,,,,"Pregnancy Complications, Cardiovascular",MeSH ID:D011249,,,, +BMGC_DS02063,BMG_DS002656,"Pregnancy Complications, Hematologic",UMLS ID:C0032964,,,,,,,"Pregnancy Complications, Hematologic",MeSH ID:D011250,,,, +BMGC_DS02064,BMG_DS002657,"Pregnancy Complications, Infectious",UMLS ID:C0032965,,,,,,,"Pregnancy Complications, Infectious",MeSH ID:D011251,,,, +BMGC_DS02065,BMG_DS002660,,UMLS ID:C0032987,,,,,ectopic pregnancy,MONDO:0000755,,,ectopic pregnancy,DOID:0060329,, +BMGC_DS02066,BMG_DS002663,Atrial Premature Complexes,UMLS ID:C0033036,,,,,,,Atrial Premature Complexes,MeSH ID:D018880,,,, +BMGC_DS02067,BMG_DS002664,,UMLS ID:C0033038,,,,,premature ejaculation,MONDO:0001780,,,premature ejaculation,DOID:13709,, +BMGC_DS02068,BMG_DS002667,Presbyopia,UMLS ID:C0033075,Presbyopia | Presbyopia (disorder),SNOMEDCT ID:155135005 | SNOMEDCT ID:41256004,Presbyopia,ICD11 ID:9D00.3,presbyopia,MONDO:0001330,Presbyopia,MeSH ID:D011305,presbyopia,DOID:11638,ICD10 ID:H52.4, +BMGC_DS02069,BMG_DS002669,Priapism,UMLS ID:C0033117,Priapism | Priapism (disorder) | Priapism | Mentulagra | Pathologic erection | Priapism (disorder) | (Priapism) or (erection - painful) | Priapism | Erection - painful | Painful erection | (Priapism) or (erection - painful) (disorder),SNOMEDCT ID:155930001 | SNOMEDCT ID:6273006 | SNOMEDCT ID:198027001,Priapism,ICD11 ID:GB06.1,priapism,MONDO:0004745,Priapism,MeSH ID:D011317,priapism,DOID:9286,ICD10 ID:N48.3,OMIM ID:MTHU054345 +BMGC_DS02070,BMG_DS002671,"Cerebellar Degenerations, Primary",UMLS ID:C0033132,,,,,primary cerebellar degeneration,MONDO:0004742,Spinocerebellar Degenerations,MeSH ID:D013132,primary cerebellar degeneration,DOID:9277,, +BMGC_DS02071,BMG_DS002672,Primary Insomnia,UMLS ID:C0033139,,,,,,,Sleep Initiation and Maintenance Disorders,MeSH ID:D007319,,,, +BMGC_DS02072,BMG_DS002673,"Cardiomyopathies, Primary",UMLS ID:C0033141,,,,,idiopathic cardiomyopathy,MONDO:0005110,Cardiomyopathies,MeSH ID:D009202,cardiomyopathy,DOID:0050700,, +BMGC_DS02073,BMG_DS002674,Proctitis,UMLS ID:C0033246,Proctitis | Proctitis (disorder) | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) | Irritation - rectum | Kraurosis ani | Ulcer - stercoral | Gastrointestinal tract disorders NOS | Anus - kraurosis | GIT disorders NOS | Proctitis | Rectal irritation | Kraurosis of anus | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) (disorder) | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) | Kraurosis of anus | Kraurosis ani | Proctitis | Ulcer - stercoral | Gastrointestinal tract disorders NOS | GIT disorders NOS | Irritation - rectum | Rectal irritation | Anus - kraurosis | (GIT disorders NOS) or (kraurosis of anus) or (proctitis) or (rectal irritation) or (stercoral ulcer) (disorder),SNOMEDCT ID:3951002 | SNOMEDCT ID:155806004 | SNOMEDCT ID:266534007,,,proctitis,MONDO:0005538,Proctitis,MeSH ID:D011349,proctitis,DOID:3127,,OMIM ID:MTHU007443 +BMGC_DS02074,BMG_DS002678,Progeria,UMLS ID:C0033300,Premature ageing syndrome | Adult premature ageing syndrome | Progeria syndrome | Adult premature aging syndrome | Premature aging syndrome | Progeria | Progeria (disorder) | Progeria | Progeria (disorder) | Hutchinson-Gilford syndrome | Progeria syndrome | Premature senility syndrome | Hutchinson-Gilford syndrome (disorder) | Progeria,SNOMEDCT ID:190590004 | SNOMEDCT ID:238869000 | SNOMEDCT ID:238870004,"Endocrine diseases, unspecified",ICD11 ID:5B3Z,Hutchinson-Gilford progeria syndrome | progeria,MONDO:0008310;MONDO:0020732,Progeria,MeSH ID:D011371,progeria,DOID:3911,ICD10 ID:E34.8,OMIM ID:176670 +BMGC_DS02075,BMG_DS002680,,UMLS ID:C0033375,,,,,prolactin-producing pituitary gland adenoma,MONDO:0010911,,,prolactinoma,DOID:5394,,OMIM ID:600634 +BMGC_DS02076,BMG_DS002682,Prostatic Diseases,UMLS ID:C0033575,,,,,prostate disorder,MONDO:0003105,Prostatic Diseases,MeSH ID:D011469,prostate disease,DOID:47,, +BMGC_DS02077,BMG_DS002683,,UMLS ID:C0033578,,,,,prostate neoplasm,MONDO:0021259,,,prostate cancer,DOID:10283,, +BMGC_DS02078,BMG_DS002685,,UMLS ID:C0033581,,,,,prostatitis,MONDO:0005280,,,prostatitis,DOID:14654,, +BMGC_DS02079,BMG_DS002686,Prosthesis Loosening,UMLS ID:C0033587,,,,,,,Prosthesis Failure,MeSH ID:D011475,,,, +BMGC_DS02080,BMG_DS002687,Protein Deficiency,UMLS ID:C0033626,,,,,,,Protein Deficiency,MeSH ID:D011488,,,, +BMGC_DS02081,BMG_DS002688,,UMLS ID:C0033677,,,,,protein-energy malnutrition,MONDO:0001371,,,protein-energy malnutrition,DOID:11801,, +BMGC_DS02082,BMG_DS002689,Protein-Losing Enteropathies,UMLS ID:C0033680,,,,,protein-losing enteropathy,MONDO:0009174,Protein-Losing Enteropathies,MeSH ID:D011504,protein-losing enteropathy,DOID:10611,,OMIM ID:226300 +BMGC_DS02083,BMG_DS002690,,UMLS ID:C0033687,,,,,proteinuria,MONDO:0003634,,,proteinuria,DOID:576,, +BMGC_DS02084,BMG_DS002691,Proteus Infections,UMLS ID:C0033700,,,,,Proteus infectious disease,MONDO:0006929,Proteus Infections,MeSH ID:D011512,,,, +BMGC_DS02085,BMG_DS002693,Protozoan Infections,UMLS ID:C0033740,,,,,protozoa infectious disease,MONDO:0002428,Protozoan Infections,MeSH ID:D011528,parasitic protozoa infectious disease,DOID:2789,, +BMGC_DS02086,BMG_DS002695,Prune Belly Syndrome,UMLS ID:C0033770,,,,,prune belly syndrome,MONDO:0007032,Prune Belly Syndrome,MeSH ID:D011535,prune belly syndrome,DOID:0060889,,OMIM ID:100100 +BMGC_DS02087,BMG_DS002698,Pseudo-Hurler Polydystrophy,UMLS ID:C0033788,,,,,"mucolipidosis type III, alpha/beta",MONDO:0018931,Mucolipidoses,MeSH ID:D009081,,,,OMIM ID:252600 +BMGC_DS02088,BMG_DS002699,Pseudobulbar Palsy,UMLS ID:C0033790,,,,,pseudobulbar palsy,MONDO:0006930,Pseudobulbar Palsy,MeSH ID:D020828,pseudobulbar palsy,DOID:12680,, +BMGC_DS02089,BMG_DS002701,Pseudogout,UMLS ID:C0033802,(Crystal: [arthropathies] or [arthritis] or [synovitis]) or (chondrocalcinosis) or (pseudogout) | Crystal arthritis | Chondrocalcinosis | Crystal arthropathies | Crystal synovitis | Pseudogout | (Crystal: [arthropathies] or [arthritis] or [synovitis]) or (chondrocalcinosis) or (pseudogout) (disorder) | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) | Chondrocalcinosis | Pseudogout | Musculoskeletal disease NOS | Musculo-skeletal disorder NOS | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) (disorder) | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) | Musculo-skeletal disorder NOS | Chondrocalcinosis | Musculoskeletal disease NOS | Pseudogout | (Musculoskeletal NOS: [disease] or [disorder]) or (chondrocalcinosis) or (pseudogout) (disorder) | Pyrophosphate arthritis | Pyrophosphate arthritis (disorder),SNOMEDCT ID:201624004 | SNOMEDCT ID:268142006 | SNOMEDCT ID:156881000 | SNOMEDCT ID:239834007,,,,,,,chondrocalcinosis,DOID:1156,,OMIM ID:MTHU018950 +BMGC_DS02090,BMG_DS002702,,UMLS ID:C0033804,,,,,pseudohermaphroditism,MONDO:0005518,,,pseudohermaphroditism,DOID:3765,, +BMGC_DS02091,BMG_DS002703,Pseudohypoaldosteronism,UMLS ID:C0033805,Pseudohypoaldosteronism | Pseudohypoadrenocorticalism | Pseudohypoaldosteronism (disorder),SNOMEDCT ID:77098009,,,pseudohypoaldosteronism,MONDO:0018638,Pseudohypoaldosteronism,MeSH ID:D011546,pseudohypoaldosteronism,DOID:4479,, +BMGC_DS02092,BMG_DS002704,Pseudohypoparathyroidism,UMLS ID:C0033806,Pseudohypoparathyroidism | Constitutional chronic hypocalcemia | Familial pseudohypoparathyroidism | Parathyroid hormone resistant hypoparathyroidism | Constitutional chronic hypocalcaemia | Pseudohypoparathyroidism (disorder) | Pseudopseudohypoparathyroidism | Pseudohypoparathyroidism | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) (disorder),SNOMEDCT ID:58976002 | SNOMEDCT ID:190867002,Pseudohypoparathyroidism,ICD11 ID:5A50.1,pseudohypoparathyroidism,MONDO:0019992,Pseudohypoparathyroidism,MeSH ID:D011547,pseudohypoparathyroidism,DOID:4184,ICD10 ID:E20.1,OMIM ID:MTHU005113 +BMGC_DS02093,BMG_DS002705,Pseudomonas Infections,UMLS ID:C0033817,,,,,Pseudomonas infection,MONDO:0005141,Pseudomonas Infections,MeSH ID:D011552,,,, +BMGC_DS02094,BMG_DS002706,,UMLS ID:C0033822,,,,,pseudomyxoma peritonei,MONDO:0017048,,,pseudomyxoma peritonei,DOID:3559,, +BMGC_DS02095,BMG_DS002707,Pseudopseudohypoparathyroidism,UMLS ID:C0033835,Normocalcemic pseudohypoparathyroidism | Normocalcaemic pseudohypoparathyroidism | Normocalcemic pseudohypoparathyroidism (disorder) | Pseudopseudohypoparathyroidism | Pseudohypoparathyroidism | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) | (Pseudohypoparathyroidism) or (pseudopseudohypoparathyroidism) (disorder) | Pseudopseudohypoparathyroidism | Pseudopseudohypoparathyroidism (disorder),SNOMEDCT ID:8084001 | SNOMEDCT ID:190867002 | SNOMEDCT ID:237659007,,,pseudopseudohypoparathyroidism,MONDO:0012912,Pseudopseudohypoparathyroidism,MeSH ID:D011556,pseudopseudohypoparathyroidism,DOID:4183,,OMIM ID:612463 +BMGC_DS02096,BMG_DS002708,Kimura Disease,UMLS ID:C0033838,,,,,Kimura disease,MONDO:0018830,Kimura Disease,MeSH ID:D000082242,Kimura disease,DOID:7365,, +BMGC_DS02097,BMG_DS002710,Pseudotumor Cerebri,UMLS ID:C0033845,,,,,pseudotumor cerebri,MONDO:0009468,Pseudotumor Cerebri,MeSH ID:D011559,pseudotumor cerebri,DOID:11459,,OMIM ID:243200 +BMGC_DS02098,BMG_DS002711,Pseudoxanthoma Elasticum,UMLS ID:C0033847,,,,,pseudoxanthoma elasticum (inherited or acquired),MONDO:0024308,Pseudoxanthoma Elasticum,MeSH ID:D011561,pseudoxanthoma elasticum,DOID:2738,, +BMGC_DS02099,BMG_DS002712,Psoriasis,UMLS ID:C0033860,Psoriasis | Psoriasis (disorder),SNOMEDCT ID:156369008 | SNOMEDCT ID:9014002,,,psoriasis,MONDO:0005083,Psoriasis,MeSH ID:D011565,psoriasis,DOID:8893,ICD10 ID:L40,OMIM ID:MTHU036411 +BMGC_DS02100,BMG_DS002713,Tension Headache,UMLS ID:C0033893,,,,,,,Tension-Type Headache,MeSH ID:D018781,,,, +BMGC_DS02101,BMG_DS002714,,UMLS ID:C0033936,,,,,alcoholic psychosis,MONDO:0002330,,,alcoholic psychosis,DOID:252,, +BMGC_DS02102,BMG_DS002715,,UMLS ID:C0033937,,,,,drug psychosis,MONDO:0006730,,,drug psychosis,DOID:1742,, +BMGC_DS02103,BMG_DS002717,,UMLS ID:C0033948,,,,,,,,,inhibited female orgasm,DOID:7518,, +BMGC_DS02104,BMG_DS002718,,UMLS ID:C0033949,,,,,male orgasm disorder,MONDO:0003522,,,inhibited male orgasm,DOID:5576,, +BMGC_DS02105,BMG_DS002719,,UMLS ID:C0033951,,,,,,,,,psychosexual disorder,DOID:10132,, +BMGC_DS02106,BMG_DS002721,,UMLS ID:C0033975,,,,,psychotic disorder,MONDO:0005485,,,,,, +BMGC_DS02107,BMG_DS002722,,UMLS ID:C0033999,,,,,pterygium,MONDO:0005085,,,pterygium,DOID:0002116,, +BMGC_DS02108,BMG_DS002723,Precocious Puberty,UMLS ID:C0034013,,,,,precocious puberty,MONDO:0000088,"Puberty, Precocious",MeSH ID:D011629,,,, +BMGC_DS02109,BMG_DS002724,Puerperal Disorders,UMLS ID:C0034040,,,,,puerperal disorder,MONDO:0044013,Puerperal Disorders,MeSH ID:D011644,,,, +BMGC_DS02110,BMG_DS002725,Puerperal Infection,UMLS ID:C0034041,,,,,puerperal infection,MONDO:0021742,Puerperal Infection,MeSH ID:D011645,,,, +BMGC_DS02111,BMG_DS002727,Pulmonary Alveolar Proteinosis,UMLS ID:C0034050,,,,,,,Pulmonary Alveolar Proteinosis,MeSH ID:D011649,pulmonary alveolar proteinosis,DOID:12120,, +BMGC_DS02112,BMG_DS002728,,UMLS ID:C0034063,,,,,pulmonary edema,MONDO:0006932,,,pulmonary edema,DOID:11396,, +BMGC_DS02113,BMG_DS002729,,UMLS ID:C0034065,,,,,pulmonary embolism,MONDO:0005279,,,pulmonary embolism,DOID:9477,, +BMGC_DS02114,BMG_DS002730,Pulmonary embolism with pulmonary infarction,UMLS ID:C0034066,Pulmonary embolism with pulmonary infarction | Pulmonary embolism with pulmonary infarction (disorder) | Pulmonary embolism with infarction,SNOMEDCT ID:1001000119102,,,,,,,pulmonary embolism and infarction,DOID:8516,, +BMGC_DS02115,BMG_DS002731,Pulmonary Emphysema,UMLS ID:C0034067,,,,,pulmonary emphysema,MONDO:0004849,Pulmonary Emphysema,MeSH ID:D011656,,,, +BMGC_DS02116,BMG_DS002732,Pulmonary Eosinophilia,UMLS ID:C0034068,,,,,pulmonary eosinophilia,MONDO:0004802,Pulmonary Eosinophilia,MeSH ID:D011657,pulmonary eosinophilia,DOID:9498,, +BMGC_DS02117,BMG_DS002733,Pulmonary Fibrosis,UMLS ID:C0034069,,,,,pulmonary fibrosis,MONDO:0002771,Pulmonary Fibrosis,MeSH ID:D011658,pulmonary fibrosis,DOID:3770,, +BMGC_DS02118,BMG_DS002734,Cor pulmonale,UMLS ID:C0034072,Cor pulmonale | Cor pulmonale (disorder) | Pulmonary heart disease | Right heart failure due to pulmonary hypertension,SNOMEDCT ID:83291003,,,cor pulmonale,MONDO:0004596,,,Cor pulmonale,DOID:8515,,OMIM ID:MTHU007637 +BMGC_DS02119,BMG_DS002735,Pulmonary Infarction,UMLS ID:C0034074,,,,,pulmonary embolism and infarction,MONDO:0004597,Pulmonary Infarction,MeSH ID:D054060,,,, +BMGC_DS02120,BMG_DS002736,,UMLS ID:C0034084,,,,,pulmonary subvalvular stenosis,MONDO:0006935,,,pulmonary subvalvular stenosis,DOID:8861,, +BMGC_DS02121,BMG_DS002737,,UMLS ID:C0034087,,,,,pulmonary valve disorder,MONDO:0003628,,,pulmonary valve disease,DOID:5749,, +BMGC_DS02122,BMG_DS002738,,UMLS ID:C0034088,,,,,pulmonary valve insufficiency,MONDO:0001927,,,pulmonary valve insufficiency,DOID:14265,, +BMGC_DS02123,BMG_DS002739,Pulmonary Valve Stenosis,UMLS ID:C0034089,,,,,valvar pulmonary stenosis | pulmonary valve stenosis,MONDO:0006936;MONDO:0020395,Pulmonary Valve Stenosis,MeSH ID:D011666,pulmonary valve stenosis,DOID:6420,, +BMGC_DS02124,BMG_DS002740,,UMLS ID:C0034091,,,,,pulmonary venoocclusive disease,MONDO:0009937,,,pulmonary venoocclusive disease,DOID:5453,, +BMGC_DS02125,BMG_DS002741,Pulp degeneration,UMLS ID:C0034100,Pulp degeneration | Pulp degeneration (disorder),SNOMEDCT ID:22361007,Pulp degeneration,ICD11 ID:DA09.4,pulp degeneration,MONDO:0001216,,,pulp degeneration,DOID:11189,ICD10 ID:K04.2, +BMGC_DS02126,BMG_DS002742,Pulpitis,UMLS ID:C0034103,Pulpitis | Pulpitis (disorder),SNOMEDCT ID:32620007 | SNOMEDCT ID:155638006,Pulpitis,ICD11 ID:DA09.0,pulpitis,MONDO:0006937,Pulpitis,MeSH ID:D011671,pulpitis,DOID:11121,ICD10 ID:K04.0, +BMGC_DS02127,BMG_DS002743,Pupil Disorders,UMLS ID:C0034124,,,,,pupil disorder,MONDO:0002285,Pupil Disorders,MeSH ID:D011681,pupil disease,DOID:238,, +BMGC_DS02128,BMG_DS002744,"Purine-Pyrimidine Metabolism, Inborn Errors",UMLS ID:C0034139,,,,,inborn disorder of purine or pyrimidine metabolism,MONDO:0019254,"Purine-Pyrimidine Metabolism, Inborn Errors",MeSH ID:D011686,,,, +BMGC_DS02129,BMG_DS002745,Purpura,UMLS ID:C0034150,Purpura | Purpura (disorder) | Purpura | Simple bruising | Purpura simplex (disorder) | Purpuric disorder | Disorder characterized by purpura | Disorder characterised by purpura | Purpura | Simple bruising | Purpuric disorder (disorder) | Purpura | Thrombocytopenic purp. | Thrombocytopenic purpura | (Purpura/hemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | Purpura/haemorrhagic condition | Purpura/hemorrhagic condition | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) (disorder) | Purpura | Purpura (morphologic abnormality) | Purpuric disorder (disorder) | Purpuric disorder | Disorder characterised by purpura | Disorder characterized by purpura | Purpura | Thrombocytopenic purpura | Purpura | Thrombocytopenic purp. | Purpura/haemorrhagic condition | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | Purpura/hemorrhagic condition | (Purpura/hemorrhagic condition) or (purpura) or (thrombocytopenic purpura) | (Purpura/haemorrhagic condition) or (purpura) or (thrombocytopenic purpura) (disorder),SNOMEDCT ID:423902002 | SNOMEDCT ID:246989006 | SNOMEDCT ID:118653003 | SNOMEDCT ID:154822006 | SNOMEDCT ID:191313005 | SNOMEDCT ID:12393003 | SNOMEDCT ID:387778001 | SNOMEDCT ID:267564008,,,purpura,MONDO:0002610,Purpura,MeSH ID:D011693,purpura,DOID:3326,,OMIM ID:MTHU002611 +BMGC_DS02130,BMG_DS002746,"Purpura, Hyperglobulinemic",UMLS ID:C0034151,,,,,hyperglobulinemic purpura,MONDO:0006792,"Purpura, Hyperglobulinemic",MeSH ID:D011694,hyperglobulinemic purpura,DOID:3325,, +BMGC_DS02131,BMG_DS002747,Henoch-Schoenlein Purpura,UMLS ID:C0034152,,,,,immunoglobulin A vasculitis,MONDO:0019167,IgA Vasculitis,MeSH ID:D011695,Henoch-Schoenlein purpura,DOID:11123,, +BMGC_DS02132,BMG_DS002748,"Purpura, Thrombotic Thrombocytopenic",UMLS ID:C0034155,,,,,thrombotic thrombocytopenic purpura,MONDO:0018896,"Purpura, Thrombotic Thrombocytopenic",MeSH ID:D011697,thrombotic thrombocytopenic purpura,DOID:10772,, +BMGC_DS02133,BMG_DS002749,Pyelitis,UMLS ID:C0034183,Pyelitis | Pyelitis (disorder),SNOMEDCT ID:27174002,,,pyelitis,MONDO:0006938,Pyelitis,MeSH ID:D011702,pyelitis,DOID:2744,, +BMGC_DS02134,BMG_DS002751,Pyelonephritis,UMLS ID:C0034186,Pyelonephritis | Pyelonephritis (disorder),SNOMEDCT ID:45816000,,,pyelonephritis,MONDO:0006939,Pyelonephritis,MeSH ID:D011704,pyelonephritis,DOID:11400,ICD10 ID:N16,OMIM ID:MTHU042201 +BMGC_DS02135,BMG_DS002752,"Pyelonephritis, Xanthogranulomatous",UMLS ID:C0034188,,,,,xanthogranulomatous pyelonephritis,MONDO:0007022,"Pyelonephritis, Xanthogranulomatous",MeSH ID:D011705,xanthogranulomatous pyelonephritis,DOID:11401,, +BMGC_DS02136,BMG_DS002754,,UMLS ID:C0034194,,,,,pyloric stenosis,MONDO:0001561,,,pyloric stenosis,DOID:12639,, +BMGC_DS02137,BMG_DS002755,Pyoderma,UMLS ID:C0034212,"Pyoderma | Pyodermia | Purulent dermatitis | Suppurative dermatitis | Septic dermatitis | Pyogenic dermatitis | Pustuloderma | Pyoderma (disorder) | Pyogenic infection of skin and subcutis | Pyogenic granuloma | Pyoderma | (Skin infection, localized NOS) or (pyoderma) or (pyogenic granuloma) | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) | Skin infection, localized NOS | Skin infection, localised NOS | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) (disorder) | (Skin infection, localized NOS) or (pyoderma) or (pyogenic granuloma) | Pyogenic granuloma | Pyoderma | Skin infection, localised NOS | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) | Skin infection, localized NOS | (Skin infection, localised NOS) or (pyoderma) or (pyogenic granuloma) (disorder)",SNOMEDCT ID:70759006 | SNOMEDCT ID:156323008 | SNOMEDCT ID:267838007,Pyoderma gangrenosum,ICD11 ID:EB21,pyoderma,MONDO:0002922,Pyoderma,MeSH ID:D011711,pyoderma,DOID:4223,ICD10 ID:L08.0,OMIM ID:MTHU042265 +BMGC_DS02138,BMG_DS002759,Pyosalpinx,UMLS ID:C0034220,"(Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) | Pelvic inflammatory disease NOS | Pelvic inflam. disease NOS | Chronic pelvic inflammatory disease | Pyosalpinx | Pelvic inflam disease,chronic | (Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) (disorder) | Pyosalpinx (disorder) | Pyosalpinx | Pyosalpingitis | Pyosalpingitis | Pyosalpingitis (disorder) | Abscess of fallopian tube | Pyosalpinx | Pyosalpingitis | Fallopian tube abscess | Abscess of fallopian tube (disorder) | Chronic pelvic inflammatory disease | Pelvic inflam disease,chronic | Pelvic inflammatory disease NOS | Pyosalpinx | Pelvic inflam. disease NOS | (Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) | (Pelvic inflammatory disease: [NOS] or [chronic]) or (pyosalpinx) (disorder)",SNOMEDCT ID:266651008 | SNOMEDCT ID:397810006 | SNOMEDCT ID:9400007 | SNOMEDCT ID:35263009 | SNOMEDCT ID:155974004,,,pyosalpinx,MONDO:0003618,,,pyosalpinx,DOID:5732,, +BMGC_DS02139,BMG_DS002760,Pyoureter,UMLS ID:C0034223,(Renal disease NOS) or (pyoureter) | Pyoureter | Renal disease NOS | (Renal disease NOS) or (pyoureter) (disorder) | Pyoureter | Pyoureter (disorder),SNOMEDCT ID:266627003 | SNOMEDCT ID:85884009,,,pyoureter,MONDO:0001922,,,pyoureter,DOID:1425,, +BMGC_DS02140,BMG_DS002761,Pyruvate Carboxylase Deficiency Disease,UMLS ID:C0034341,,,,,pyruvate carboxylase deficiency disease,MONDO:0009949,Pyruvate Carboxylase Deficiency Disease,MeSH ID:D015324,pyruvate carboxylase deficiency disease,DOID:3651,,OMIM ID:266150 +BMGC_DS02141,BMG_DS002762,Pyruvate Dehydrogenase Complex Deficiency Disease,UMLS ID:C0034345,,,,,pyruvate dehydrogenase deficiency,MONDO:0019169,Pyruvate Dehydrogenase Complex Deficiency Disease,MeSH ID:D015325,pyruvate decarboxylase deficiency,DOID:3649,, +BMGC_DS02142,BMG_DS002763,"Pyruvate Metabolism, Inborn Errors",UMLS ID:C0034350,,,,,,,"Pyruvate Metabolism, Inborn Errors",MeSH ID:D015323,,,, +BMGC_DS02143,BMG_DS002764,,UMLS ID:C0034359,,,,,pyuria,MONDO:0001953,,,pyuria,DOID:1439,, +BMGC_DS02144,BMG_DS002765,Q Fever,UMLS ID:C0034362,,,,,Q fever,MONDO:0019186,Q Fever,MeSH ID:D011778,Q fever,DOID:11100,, +BMGC_DS02145,BMG_DS002766,Quadriplegia,UMLS ID:C0034372,Quadriplegia | Quadriplegia (disorder) | Quadriplegia | Tetraplegia | Quadriplegia (disorder),SNOMEDCT ID:155030003 | SNOMEDCT ID:11538006,"Tetraplegia, unspecified",ICD11 ID:MB50.Z,quadriplegia,MONDO:0001590,Quadriplegia,MeSH ID:D011782,quadriplegia,DOID:12835,ICD10 ID:G82.5,OMIM ID:MTHU038030 +BMGC_DS02146,BMG_DS002767,Rabies (disorder),UMLS ID:C0034494,Rabies | Hydrophobia | Lyssa | Rabies (disorder),SNOMEDCT ID:14168008,,,rabies,MONDO:0019173,,,rabies,DOID:11260,, +BMGC_DS02147,BMG_DS002768,Radiation Syndrome,UMLS ID:C0034535,,,,,radiation injury,MONDO:0043458,Radiation Injuries,MeSH ID:D011832,,,, +BMGC_DS02148,BMG_DS002769,Radiculitis,UMLS ID:C0034544,Radiculitis | Radiculitis (disorder) | Radiculitis (disorder) | Radiculitis,SNOMEDCT ID:82473003 | SNOMEDCT ID:123255000,,,radiculitis,MONDO:0021765,Radiculopathy,MeSH ID:D011843,,,, +BMGC_DS02149,BMG_DS002770,Radiation-Induced Dermatitis,UMLS ID:C0034561,,,,,radiodermatitis,MONDO:0043771,Radiodermatitis,MeSH ID:D011855,,,, +BMGC_DS02150,BMG_DS002772,Rat-Bite Fever,UMLS ID:C0034686,,,,,rat-bite fever,MONDO:0006941,Rat-Bite Fever,MeSH ID:D011906,,,, +BMGC_DS02151,BMG_DS002773,Raynaud Disease,UMLS ID:C0034734,,,,,Raynaud disease,MONDO:0008364,Raynaud Disease,MeSH ID:D011928,Raynaud disease,DOID:10300,,OMIM ID:179600 +BMGC_DS02152,BMG_DS002774,Raynaud Phenomenon,UMLS ID:C0034735,,,,,,,Raynaud Disease,MeSH ID:D011928,,,, +BMGC_DS02153,BMG_DS002776,Rectal Diseases,UMLS ID:C0034882,,,,,rectal disorder,MONDO:0001593,Rectal Diseases,MeSH ID:D012002,rectal disease,DOID:1285,, +BMGC_DS02154,BMG_DS002777,,UMLS ID:C0034885,,,,,rectal neoplasm,MONDO:0002165,,,rectal benign neoplasm,DOID:1984,, +BMGC_DS02155,BMG_DS002779,Rectal Prolapse,UMLS ID:C0034888,,,,,rectal prolapse,MONDO:0004754,Rectal Prolapse,MeSH ID:D012005,rectal prolapse,DOID:9307,, +BMGC_DS02156,BMG_DS002780,Pure Red-Cell Aplasia,UMLS ID:C0034902,,,,,pure red-cell aplasia,MONDO:0001705,"Red-Cell Aplasia, Pure",MeSH ID:D012010,pure red-cell aplasia,DOID:1340,, +BMGC_DS02157,BMG_DS002782,Reflex Sympathetic Dystrophy,UMLS ID:C0034931,,,,,complex regional pain syndrome type 1,MONDO:0011441,Reflex Sympathetic Dystrophy,MeSH ID:D012019,reflex sympathetic dystrophy,DOID:1811,,OMIM ID:604335 +BMGC_DS02158,BMG_DS002783,Refractive Errors,UMLS ID:C0034951,,,,,refractive error,MONDO:0004892,Refractive Errors,MeSH ID:D012030,refractive error,DOID:9835,, +BMGC_DS02159,BMG_DS002784,Refsum Disease,UMLS ID:C0034960,,,,,adult Refsum disease,MONDO:0009958,Refsum Disease,MeSH ID:D012035,Refsum disease,DOID:10582,,OMIM ID:600964 | OMIM ID:266500 +BMGC_DS02160,BMG_DS002785,Reiter Syndrome,UMLS ID:C0035012,,,,,,,"Arthritis, Reactive",MeSH ID:D016918,reactive arthritis,DOID:6196,, +BMGC_DS02161,BMG_DS002786,Relapsing Fever,UMLS ID:C0035021,,,,,relapsing fever,MONDO:0019633,Relapsing Fever,MeSH ID:D012061,relapsing fever,DOID:13034,, +BMGC_DS02162,BMG_DS002787,Tick-borne relapsing fever,UMLS ID:C0035022,Tick-borne relapsing fever | Tick-borne relapsing fever (disorder),SNOMEDCT ID:10301003,Tickborne relapsing fever,ICD11 ID:1C1J.0,tick-borne relapsing fever,MONDO:0001621,,,tick-borne relapsing fever,DOID:13036,ICD10 ID:A68.1, +BMGC_DS02163,BMG_DS002788,Renal Artery Obstruction,UMLS ID:C0035066,,,,,renal artery obstruction,MONDO:0006945,Renal Artery Obstruction,MeSH ID:D012078,renal artery obstruction,DOID:2972,, +BMGC_DS02164,BMG_DS002789,Renal Artery Stenosis,UMLS ID:C0035067,,,,,,,Renal Artery Obstruction,MeSH ID:D012078,,,, +BMGC_DS02165,BMG_DS002790,Kidney Failure,UMLS ID:C0035078,,,,,kidney failure,MONDO:0001106,Renal Insufficiency,MeSH ID:D051437,kidney failure,DOID:1074,, +BMGC_DS02166,BMG_DS002792,Renal Osteodystrophy,UMLS ID:C0035086,,,,,renal osteodystrophy,MONDO:0006946,Chronic Kidney Disease-Mineral and Bone Disorder,MeSH ID:D012080,renal osteodystrophy,DOID:13068,, +BMGC_DS02167,BMG_DS002793,"Renal Tubular Transport, Inborn Errors",UMLS ID:C0035091,,,,,renal tubular transport disease,MONDO:0006510,"Renal Tubular Transport, Inborn Errors",MeSH ID:D015499,renal tubular transport disease,DOID:447,, +BMGC_DS02168,BMG_DS002796,Respiration Disorders,UMLS ID:C0035204,,,,,respiratory system disorder,MONDO:0005087,Respiration Disorders,MeSH ID:D012120,,,, +BMGC_DS02169,BMG_DS002797,"Respiratory Distress Syndrome, Newborn",UMLS ID:C0035220,,,,,congenital alveolar dysplasia,MONDO:0100077,"Respiratory Distress Syndrome, Newborn",MeSH ID:D012127,,,, +BMGC_DS02170,BMG_DS002798,"Respiratory Distress Syndrome, Adult",UMLS ID:C0035222,,,,,adult acute respiratory distress syndrome,MONDO:0100130,Respiratory Distress Syndrome,MeSH ID:D012128,adult respiratory distress syndrome,DOID:11394,, +BMGC_DS02171,BMG_DS002800,Respiratory Syncytial Virus Infections,UMLS ID:C0035235,,,,,respiratory syncytial virus infectious disease,MONDO:0001577,Respiratory Syncytial Virus Infections,MeSH ID:D018357,respiratory syncytial virus infectious disease,DOID:1273,, +BMGC_DS02172,BMG_DS002801,Respiratory Tract Diseases,UMLS ID:C0035242,,,,,,,Respiratory Tract Diseases,MeSH ID:D012140,,,, +BMGC_DS02173,BMG_DS002802,Respiratory Tract Infections,UMLS ID:C0035243,,,,,respiratory tract infectious disorder,MONDO:0024355,Respiratory Tract Infections,MeSH ID:D012141,,,, +BMGC_DS02174,BMG_DS002804,Restless Legs Syndrome,UMLS ID:C0035258,,,,,restless legs syndrome,MONDO:0005391,Restless Legs Syndrome,MeSH ID:D012148,restless legs syndrome,DOID:0050425,, +BMGC_DS02175,BMG_DS002806,,UMLS ID:C0035288,,,,,"reticuloendotheliosis, X-linked",MONDO:0010721,,,histoplasmosis,DOID:1731,,OMIM ID:312500 +BMGC_DS02176,BMG_DS002807,,UMLS ID:C0035290,,,,,reticulohistiocytic granuloma,MONDO:0002984,,,reticulohistiocytic granuloma,DOID:4394,, +BMGC_DS02177,BMG_DS002808,Retinal Artery Occlusion,UMLS ID:C0035302,,,,,retinal artery occlusion,MONDO:0006948,Retinal Artery Occlusion,MeSH ID:D015356,retinal artery occlusion,DOID:8483,, +BMGC_DS02178,BMG_DS002809,,UMLS ID:C0035304,,,,,retinal degeneration,MONDO:0004580,,,retinal degeneration,DOID:8466,, +BMGC_DS02179,BMG_DS002810,Retinal Detachment,UMLS ID:C0035305,,,,,retinal detachment,MONDO:0008375,Retinal Detachment,MeSH ID:D012163,retinal detachment,DOID:5327,,OMIM ID:312530 | OMIM ID:180050 +BMGC_DS02180,BMG_DS002811,Retinal Diseases,UMLS ID:C0035309,,,,,retinal disorder,MONDO:0005283,Retinal Diseases,MeSH ID:D012164,retinal disease,DOID:5679,, +BMGC_DS02181,BMG_DS002812,Retinal Drusen,UMLS ID:C0035312,,,,,retinal drusen,MONDO:0006949,Retinal Drusen,MeSH ID:D015593,retinal drusen,DOID:2569,, +BMGC_DS02182,BMG_DS002813,"Retinal Necrosis Syndrome, Acute",UMLS ID:C0035319,,,,,acute retinal necrosis syndrome,MONDO:0006638,"Retinal Necrosis Syndrome, Acute",MeSH ID:D015882,acute retinal necrosis syndrome,DOID:3611,, +BMGC_DS02183,BMG_DS002814,Retinal Perforations,UMLS ID:C0035321,,,,,retinal perforation,MONDO:0001539,Retinal Perforations,MeSH ID:D012167,retinal perforation,DOID:12514,, +BMGC_DS02184,BMG_DS002815,Retinal vascular occlusion,UMLS ID:C0035326,(Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) | Retinal vasc. occlusion | Retinal vascular occlusion | Amaurosis fugax | Retinal thrombosis | (Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) (disorder) | Retinal vascular occlusion | Retinal vascular occlusion (disorder) | (Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) | Retinal vascular occlusion | Retinal vasc. occlusion | Amaurosis fugax | Retinal thrombosis | (Retinal vascular occlusion) or (amaurosis fugax) or (retinal thrombosis) (disorder),SNOMEDCT ID:155111000 | SNOMEDCT ID:73757007 | SNOMEDCT ID:267717005,,,retinal vascular occlusion,MONDO:0002089,,,retinal vascular occlusion,DOID:1729,, +BMGC_DS02185,BMG_DS002816,Retinal Vein Occlusion,UMLS ID:C0035328,,,,,retinal vein occlusion,MONDO:0006951,Retinal Vein Occlusion,MeSH ID:D012170,retinal vein occlusion,DOID:1727,, +BMGC_DS02186,BMG_DS002817,Retinitis,UMLS ID:C0035333,Retinitis | Retinopathy | Retinitis (disorder) | Retinitis (disorder) | Retinitis,SNOMEDCT ID:35426003 | SNOMEDCT ID:399463004,,,retinitis,MONDO:0002708,Retinitis,MeSH ID:D012173,retinitis,DOID:3612,,OMIM ID:MTHU047424 +BMGC_DS02187,BMG_DS002818,Retinitis Pigmentosa,UMLS ID:C0035334,,,,,retinitis pigmentosa,MONDO:0019200,Retinitis Pigmentosa,MeSH ID:D012174,retinitis pigmentosa,DOID:10584,,OMIM ID:268000 +BMGC_DS02188,BMG_DS002819,,UMLS ID:C0035335,,,,,retinoblastoma,MONDO:0008380,,,retinoblastoma,DOID:768,, +BMGC_DS02189,BMG_DS002820,Retinopathy of Prematurity,UMLS ID:C0035344,,,,,retinopathy of prematurity,MONDO:0006952,Retinopathy of Prematurity,MeSH ID:D012178,retinopathy of prematurity,DOID:13025,, +BMGC_DS02190,BMG_DS002821,Retrocochlear Diseases,UMLS ID:C0035352,,,,,retrocochlear disease,MONDO:0002453,Retrocochlear Diseases,MeSH ID:D012181,retrocochlear disease,DOID:2889,, +BMGC_DS02191,BMG_DS002822,Retroperitoneal fibrosis,UMLS ID:C0035357,(Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) | Ureter stricture/obstruction | Ureter - stricture | Stricture of ureter | Retroperitoneal fibrosis | Stricture - ureter | (Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) (disorder) | Stricture - ureter | Ureter - stricture | Stricture of ureter | Ureter stricture/obstruction | Retroperitoneal fibrosis | (Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) | (Ureter obstruction &/or stricture) or (retroperitoneal fibrosis) (disorder) | Retroperitoneal fibrosis | Ormond's disease | Sclerosing retroperitonitis | RPF - Retroperitoneal fibrosis | Retroperitoneal fibrosis (disorder),SNOMEDCT ID:155873006 | SNOMEDCT ID:266626007 | SNOMEDCT ID:49120005,,,IgG4-related retroperitoneal fibrosis,MONDO:0018848,,,,,ICD10 ID:K68.2,OMIM ID:MTHU068355 +BMGC_DS02192,BMG_DS002823,,UMLS ID:C0035358,,,,,retroperitoneal neoplasm,MONDO:0024645,,,retroperitoneal cancer,DOID:5875,, +BMGC_DS02193,BMG_DS002825,Rett Syndrome,UMLS ID:C0035372,,,,,Rett syndrome,MONDO:0010726,Rett Syndrome,MeSH ID:D015518,Rett syndrome,DOID:1206,,OMIM ID:312750 +BMGC_DS02194,BMG_DS002826,Reye Syndrome,UMLS ID:C0035400,,,,,Reye syndrome,MONDO:0005942,Reye Syndrome,MeSH ID:D012202,Reye syndrome,DOID:14525,, +BMGC_DS02195,BMG_DS002827,Rh Isoimmunization,UMLS ID:C0035404,,,,,Rh isoimmunization,MONDO:0006953,,MeSH ID:D012203,Rh isoimmunization,DOID:4175,, +BMGC_DS02196,BMG_DS002829,,UMLS ID:C0035412,,,,,rhabdomyosarcoma,MONDO:0005212,,,rhabdomyosarcoma,DOID:3247,, +BMGC_DS02197,BMG_DS002830,Rheumatism,UMLS ID:C0035435,Rheumatism | Non-articular rheumatism | Musculoskeletal pain disorder | NAR - Non-articular rheumatism | Locomotor pain disorder | Soft tissue rheumatism | Rheumatism (disorder) | Rheumatism (disorder) | Rheumatism | Locomotor pain disorder | Musculoskeletal pain disorder,SNOMEDCT ID:29913006 | SNOMEDCT ID:396332003,,,,,Rheumatic Diseases,MeSH ID:D012216,,,, +BMGC_DS02198,BMG_DS002831,Rheumatic Fever,UMLS ID:C0035436,,,,,rheumatic fever,MONDO:0017767,Rheumatic Fever,MeSH ID:D012213,rheumatic fever,DOID:1586,, +BMGC_DS02199,BMG_DS002832,Rheumatic Heart Disease,UMLS ID:C0035439,,,,,rheumatic heart disease,MONDO:0006955,Rheumatic Heart Disease,MeSH ID:D012214,rheumatic heart disease,DOID:0050827,, +BMGC_DS02200,BMG_DS002833,Acute rheumatic heart disease,UMLS ID:C0035440,Acute rheumatic heart disease | Acute rheumatic heart disease (disorder) | Acute rheumatic heart disease | Acute rheumatic fever with heart involvement | Active rheumatic fever with heart involvement | Acute rheumatic fever with heart disease (disorder) | Acute rheumatic fever with heart disease,SNOMEDCT ID:8805001 | SNOMEDCT ID:312591002,,,acute rheumatic heart disease,MONDO:0021777,,,rheumatic myocarditis,DOID:8481,, +BMGC_DS02201,BMG_DS002836,Rhinitis,UMLS ID:C0035455,Rhinitis | Irritation of nose | Rhinitis (disorder),SNOMEDCT ID:70076002,,,rhinitis,MONDO:0003014,Rhinitis,MeSH ID:D012220,rhinitis,DOID:4483,,OMIM ID:MTHU012038 +BMGC_DS02202,BMG_DS002837,"Rhinitis, Allergic, Perennial",UMLS ID:C0035457,,,,,perennial allergic rhinitis,MONDO:0024332,"Rhinitis, Allergic, Perennial",MeSH ID:D012221,,,, +BMGC_DS02203,BMG_DS002838,"Rhinitis, Atrophic",UMLS ID:C0035459,,,,,atrophic rhinitis,MONDO:0005659,"Rhinitis, Atrophic",MeSH ID:D012222,atrophic rhinitis,DOID:4731,, +BMGC_DS02204,BMG_DS002839,"Rhinitis, Vasomotor",UMLS ID:C0035460,,,,,vasomotor rhinitis,MONDO:0006004,"Rhinitis, Vasomotor",MeSH ID:D012223,vasomotor rhinitis,DOID:4730,, +BMGC_DS02205,BMG_DS002841,Rhinoscleroma,UMLS ID:C0035468,Rhinoscleroma | Infection by Klebsiella rhinoscleromatis | Scleroma | Rhinoscleroma (disorder),SNOMEDCT ID:72409005,,,rhinoscleroma,MONDO:0005945,Rhinoscleroma,MeSH ID:D012226,rhinoscleroma,DOID:11336,, +BMGC_DS02206,BMG_DS002843,Riboflavin Deficiency,UMLS ID:C0035528,,,,,,,Riboflavin Deficiency,MeSH ID:D012257,riboflavin deficiency,DOID:8454,, +BMGC_DS02207,BMG_DS002844,Rickets,UMLS ID:C0035579,Vitamin D deficiency | Osteomalacia | Rickets | (Vitamin D deficiency) or (osteomalacia) or (rickets) | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | Osteomalacia | Vitamin D deficiency | Rickets | (Vitamin D deficiency) or (osteomalacia) or (rickets) | (Vitamin D deficiency) or (osteomalacia) or (rickets) (disorder) | Rickets | Rickets (disorder),SNOMEDCT ID:190639009 | SNOMEDCT ID:154728003 | SNOMEDCT ID:41345002,,,rickets,MONDO:0005520,Rickets,MeSH ID:D012279,rickets,DOID:10609,,OMIM ID:MTHU006645 +BMGC_DS02208,BMG_DS002845,Rickettsia Infections,UMLS ID:C0035585,,,,,Rickettsiosis,MONDO:0006956,Rickettsia Infections,MeSH ID:D012282,,,, +BMGC_DS02209,BMG_DS002847,Rickettsialpox,UMLS ID:C0035597,Rickettsialpox | Vesicular rickettsiosis | Rickettsialpox due to Rickettsia akari | Kew Gardens spotted fever | Rickettsialpox (disorder),SNOMEDCT ID:75096007,,,rickettsialpox,MONDO:0019360,Spotted Fever Group Rickettsiosis,MeSH ID:D000073605,rickettsialpox,DOID:11103,, +BMGC_DS02210,BMG_DS002848,Rift Valley Fever,UMLS ID:C0035613,,,,,Rift valley fever,MONDO:0017880,Rift Valley Fever,MeSH ID:D012295,Rift Valley fever,DOID:1328,, +BMGC_DS02211,BMG_DS002849,,UMLS ID:C0035615,,,,,right aortic arch,MONDO:0020417,,,,,, +BMGC_DS02212,BMG_DS002852,,UMLS ID:C0035639,,,,,,,,,ring chromosome syndrome,DOID:0070620,, +BMGC_DS02213,BMG_DS002854,Rocky Mountain Spotted Fever,UMLS ID:C0035793,,,,,Rocky mountain spotted fever,MONDO:0019359,Rocky Mountain Spotted Fever,MeSH ID:D012373,Rocky Mountain spotted fever,DOID:0050052,, +BMGC_DS02214,BMG_DS002855,Rodent Diseases,UMLS ID:C0035801,,,,,rodent disease,MONDO:0024981,Rodent Diseases,MeSH ID:D012376,,,, +BMGC_DS02215,BMG_DS002856,Root Resorption,UMLS ID:C0035851,,,,,root resorption,MONDO:0001997,Root Resorption,MeSH ID:D012391,root resorption,DOID:14550,, +BMGC_DS02216,BMG_DS002857,Rosacea,UMLS ID:C0035854,Rosacea | Rosacea (disorder) | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) | Acne rosacea | Acne roscea | Rhinophyma | Rosacea | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) (disorder) | Acne rosacea | Rosacea | Acne erythematosa | Acne rosacea (disorder) | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) | Acne roscea | Acne rosacea | Rosacea | Rhinophyma | (Acne roscea) or (acne rosacea) or (rhinophyma) or (rosacea) (disorder) | Rosacea (disorder) | Rosacea | Acne rosacea | Acne erythematosa,SNOMEDCT ID:200930009 | SNOMEDCT ID:267849001 | SNOMEDCT ID:1612004 | SNOMEDCT ID:156364003 | SNOMEDCT ID:398909004,,,rosacea,MONDO:0006604,Rosacea,MeSH ID:D012393,rosacea,DOID:8881,ICD10 ID:L71,OMIM ID:MTHU064119 +BMGC_DS02217,BMG_DS002858,Rotavirus Infections,UMLS ID:C0035869,,,,,Rotavirus infection,MONDO:0005194,Rotavirus Infections,MeSH ID:D012400,,,, +BMGC_DS02218,BMG_DS002859,Rubella,UMLS ID:C0035920,(Rubella [& German measles]) or (Roseola) | Roseola | German measles | Rubella | (Rubella [& German measles]) or (Roseola) (disorder) | (Rubella [& German measles]) or (Roseola) | German measles | Rubella | Roseola | (Rubella [& German measles]) or (Roseola) (disorder) | Rubella | German measles | Rubella (disorder),SNOMEDCT ID:154343004 | SNOMEDCT ID:266192003 | SNOMEDCT ID:36653000,,,rubella,MONDO:0004656,Rubella,MeSH ID:D012409,rubella,DOID:8781,, +BMGC_DS02219,BMG_DS002861,Rubinstein-Taybi Syndrome,UMLS ID:C0035934,,,,,Rubinstein-Taybi syndrome,MONDO:0019188,Rubinstein-Taybi Syndrome,MeSH ID:D012415,Rubinstein-Taybi syndrome,DOID:1933,, +BMGC_DS02220,BMG_DS002862,Saldino-Noonan Syndrome,UMLS ID:C0036069,,,,,asphyxiating thoracic dystrophy 3,MONDO:0013127,Short Rib-Polydactyly Syndrome,MeSH ID:D012779,,,,OMIM ID:613091 +BMGC_DS02221,BMG_DS002864,Sialolithiasis,UMLS ID:C0036091,Sialolithiasis | Calculus of salivary gland | Stone of salivary gland | Salivary calculus | Sialolith | Salivary stone | Sialolithiasis (disorder) | Sialolithiasis | Sialolithiasis (disorder),SNOMEDCT ID:28826002 | SNOMEDCT ID:155656006,Sialolithiasis,ICD11 ID:DA04.4,sialolithiasis,MONDO:0006970,Salivary Gland Calculi,MeSH ID:D015494,sialolithiasis,DOID:12905,ICD10 ID:K11.5, +BMGC_DS02222,BMG_DS002865,Salivary Gland Diseases,UMLS ID:C0036093,,,,,,,Salivary Gland Diseases,MeSH ID:D012466,,,, +BMGC_DS02223,BMG_DS002866,,UMLS ID:C0036095,,,,,tumor of salivary gland,MONDO:0021357,,,,,, +BMGC_DS02224,BMG_DS002867,Salmonella food poisoning,UMLS ID:C0036114,Salmonella gastroenteritis | Enteric paratyphosis | Salmonella gastroenteritis (disorder) | Salmonellosis (& [gastroenteritis] or [food poisoning]) | Salmonella food poisoning | Salmonellosis | Salmonella gastroenteritis | Salmonellosis (& [gastroenteritis] or [food poisoning]) (disorder) | Salmonella food poisoning | Salmonella food poisoning (disorder),SNOMEDCT ID:42338000 | SNOMEDCT ID:186094005 | SNOMEDCT ID:302229004,,,Salmonella gastroenteritis,MONDO:0005950,,,,,, +BMGC_DS02225,BMG_DS002868,,UMLS ID:C0036117,,,,,salmonellosis,MONDO:0000827,,,,,, +BMGC_DS02226,BMG_DS002869,"Salmonella Infections, Animal",UMLS ID:C0036118,,,,,"salmonella infections, animal",MONDO:0024982,"Salmonella Infections, Animal",MeSH ID:D012481,,,, +BMGC_DS02227,BMG_DS002870,Salpingitis,UMLS ID:C0036130,Salpingitis | Salpingitis (disorder) | Inflammation of fallopian tube | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Pelvic inflammatory disease | Inflam. dis.- pelvic | Chronic pelvic inflam. dis.NOS | Oophoritis | Salpingitis | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder) | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) | Chronic pelvic inflam. dis.NOS | Pelvic inflammatory disease | Salpingitis | Oophoritis | Inflam. dis.- pelvic | Pelvic inflammatory disease (& [chronic NOS] or [oophoritis] or [salpingitis]) (disorder),SNOMEDCT ID:88157006 | SNOMEDCT ID:266648001 | SNOMEDCT ID:155968004,,,salpingitis,MONDO:0003619,Salpingitis,MeSH ID:D012488,salpingitis,DOID:5733,, +BMGC_DS02228,BMG_DS002871,Tubo-ovarian inflammatory disease,UMLS ID:C0036133,Tubo-ovarian inflammatory disease | Salpingo-oophoritis | Tubo-ovarian inflammatory disease (disorder) | Inflammation of ovary and fallopian tube | Salpingitis and oophoritis,SNOMEDCT ID:46536000,,,salpingo-oophoritis,MONDO:0001172,,,salpingo-oophoritis,DOID:10972,, +BMGC_DS02229,BMG_DS002872,Sandhoff Disease,UMLS ID:C0036161,,,,,Sandhoff disease,MONDO:0010006,Sandhoff Disease,MeSH ID:D012497,Sandhoff disease,DOID:3323,,OMIM ID:268800 +BMGC_DS02230,BMG_DS002873,Sarcoidosis,UMLS ID:C0036202,Sarcoidosis | Sarcoidosis (disorder) | Sarcoidosis | Boeck's sarcoid | Besnier-Boeck-Schaumann syndrome | Miliary lupoid of Boeck | Lupus pernio of Besnier | Benign lymphogranulomatosis of Schaumann | Darier-Roussy sarcoid | Sarcoidosis (disorder) | Boeck's sarcoidosis,SNOMEDCT ID:154425004 | SNOMEDCT ID:31541009,,,sarcoidosis,MONDO:0019338,Sarcoidosis,MeSH ID:D012507,sarcoidosis,DOID:11335,ICD10 ID:D86,OMIM ID:MTHU070178 +BMGC_DS02231,BMG_DS002874,Cutaneous sarcoidosis,UMLS ID:C0036203,Cutaneous sarcoidosis | Cutaneous sarcoidosis (disorder) | Sarcoidosis of skin | Skin sarcoidosis,SNOMEDCT ID:55941000,,,skin sarcoidosis,MONDO:0006611,,,skin sarcoidosis,DOID:13402,, +BMGC_DS02232,BMG_DS002876,"Sarcoidosis, Pulmonary",UMLS ID:C0036205,,,,,pulmonary sarcoidosis,MONDO:0001708,"Sarcoidosis, Pulmonary",MeSH ID:D017565,pulmonary sarcoidosis,DOID:13406,, +BMGC_DS02233,BMG_DS002880,,UMLS ID:C0036220,,,,,Kaposi's sarcoma,MONDO:0005055,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS02234,BMG_DS002881,,UMLS ID:C0036221,,,,,mast cell sarcoma,MONDO:0019024,,,mast-cell sarcoma,DOID:355,, +BMGC_DS02235,BMG_DS002882,Sarcocystosis,UMLS ID:C0036231,Sarcosporidiosis | Sarcosporidiasis | Sarcocystosis | Sarcosporidiosis (disorder) | Sarcocystiosis,SNOMEDCT ID:88905005,"Protozoal intestinal infections, unspecified",ICD11 ID:1A3Z,sarcocystosis,MONDO:0018903,Sarcocystosis,MeSH ID:D012523,sarcocystosis,DOID:9640,ICD10 ID:A07.8, +BMGC_DS02236,BMG_DS002883,,UMLS ID:C0036262,,,,,scabies,MONDO:0004525,,,scabies,DOID:8295,, +BMGC_DS02237,BMG_DS002884,Scalp Dermatoses,UMLS ID:C0036271,,,,,scalp dermatosis,MONDO:0006605,Scalp Dermatoses,MeSH ID:D012536,scalp dermatosis,DOID:3136,, +BMGC_DS02238,BMG_DS002886,Scarlet Fever,UMLS ID:C0036285,,,,,scarlet fever,MONDO:0005952,Scarlet Fever,MeSH ID:D012541,scarlet fever,DOID:8596,, +BMGC_DS02239,BMG_DS002887,Schamberg Disease,UMLS ID:C0036305,,,,,obsolete incontinentia pigmenti achromians,MONDO:0006562,Pigmentation Disorders,MeSH ID:D010859,,,, +BMGC_DS02240,BMG_DS002888,Scheuermann's Disease,UMLS ID:C0036310,,,,,Scheuermann disease,MONDO:0008410,Scheuermann Disease,MeSH ID:D012544,Scheuermann's disease,DOID:13300,,OMIM ID:181440 +BMGC_DS02241,BMG_DS002889,Schistosomiasis,UMLS ID:C0036323,(Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | Oxyuriasis | Filaria | Toxocara | Other helminthiases | Trichinosis | Schistosomiasis | Taenia infestation | Flukes | Tapeworms | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder) | Infection by Schistosoma | Schistosomiasis | Bilharziasis | Hemic distomiasis | Schistosomosis | Bilharzia | Schistosomiasis - bilharziasis | Blood fluke infection | Haemic distomiasis | Infection caused by Schistosoma (disorder) | Infection caused by Schistosoma | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) | Oxyuriasis | Tapeworms | Taenia infestation | Flukes | Other helminthiases | Filaria | Schistosomiasis | Trichinosis | Toxocara | (Other helminthiases (& [oxyuriasis] or [schistosomiasis] or [taenia infestation] or [trichinosis])) or ([filaria] or [flukes] or [tapeworms] or [toxocara]) (disorder),SNOMEDCT ID:266222003 | SNOMEDCT ID:10087007 | SNOMEDCT ID:154415009,,,schistosomiasis,MONDO:0015254,Schistosomiasis,MeSH ID:D012552,,,, +BMGC_DS02242,BMG_DS002890,Schistosomiasis japonica,UMLS ID:C0036329,,,,,Schistosoma japonicum infectious disease | ,MONDO:0044344,Schistosomiasis japonica,MeSH ID:D012554,intestinal schistosomiasis,DOID:0050597,, +BMGC_DS02243,BMG_DS002891,Schistosomiasis mansoni,UMLS ID:C0036330,,,,,Schistosoma mansoni infectious disease | ,MONDO:0044345,Schistosomiasis mansoni,MeSH ID:D012555,intestinal schistosomiasis,DOID:0050597,, +BMGC_DS02244,BMG_DS002894,,UMLS ID:C0036337,,,,,schizoaffective disorder,MONDO:0005487,,,schizoaffective disorder,DOID:5418,, +BMGC_DS02245,BMG_DS002895,,UMLS ID:C0036339,,,,,schizoid personality disorder,MONDO:0001161,,,schizoid personality disorder,DOID:10936,, +BMGC_DS02246,BMG_DS002896,,UMLS ID:C0036341,,,,,schizophrenia,MONDO:0005090,,,schizophrenia,DOID:5419,,OMIM ID:181500 +BMGC_DS02247,BMG_DS002897,,UMLS ID:C0036346,,,,,childhood-onset schizophrenia,MONDO:0957430,,,,,, +BMGC_DS02248,BMG_DS002898,,UMLS ID:C0036349,,,,,paranoid schizophrenia,MONDO:0001484,,,paranoid schizophrenia,DOID:1229,, +BMGC_DS02249,BMG_DS002899,,UMLS ID:C0036358,,,,,schizophreniform disorder,MONDO:0001265,,,schizophreniform disorder,DOID:11328,, +BMGC_DS02250,BMG_DS002900,,UMLS ID:C0036363,,,,,,,,,schizotypal personality disorder,DOID:10646,, +BMGC_DS02251,BMG_DS002901,Schwartz-Jampel Syndrome,UMLS ID:C0036391,,,,,Schwartz-Jampel syndrome,MONDO:0009717,Osteochondrodysplasias,MeSH ID:D010009,,,, +BMGC_DS02252,BMG_DS002903,Scimitar Syndrome,UMLS ID:C0036400,,,,,scimitar syndrome,MONDO:0015987,Scimitar Syndrome,MeSH ID:D012587,scimitar syndrome,DOID:4297,, +BMGC_DS02253,BMG_DS002904,Scleral Diseases,UMLS ID:C0036412,,,,,scleral disorder,MONDO:0001269,Scleral Diseases,MeSH ID:D015422,scleral disease,DOID:11343,, +BMGC_DS02254,BMG_DS002905,Scleredema Adultorum,UMLS ID:C0036413,,,,,scleredema adultorum,MONDO:0006606,Scleredema Adultorum,MeSH ID:D012592,scleredema adultorum,DOID:3140,, +BMGC_DS02255,BMG_DS002907,Scleritis,UMLS ID:C0036416,Scleritis &/or episcleritis | Scleritis and episcleritis | Scleritis | Episcleritis | Scleritis/episcleritis | Scleritis &/or episcleritis (disorder) | Scleritis/episcleritis | Scleritis | Episcleritis | Scleritis and episcleritis | Scleritis &/or episcleritis | Scleritis &/or episcleritis (disorder) | Scleritis | Scleritis (disorder) | Inflammation of white of eye,SNOMEDCT ID:194139000 | SNOMEDCT ID:155201000 | SNOMEDCT ID:78370002,Scleritis,ICD11 ID:9B51,scleritis,MONDO:0001718,Scleritis,MeSH ID:D015423,scleritis,DOID:13452,ICD10 ID:H15.0, +BMGC_DS02256,BMG_DS002908,Localized scleroderma,UMLS ID:C0036420,Localized dermatosclerosis | Morphea scleroderma | Localised scleroderma | Circumscribed scleroderma | Addison's keloid | Localized scleroderma | Localized morphea | Morphoea scleroderma | Localised dermatosclerosis | Localised morphoea | Localized morphea (disorder) | Localized scleroderma | Localised scleroderma | Localized scleroderma (disorder),SNOMEDCT ID:201048007 | SNOMEDCT ID:90424004,,,localized scleroderma,MONDO:0019562,,,localized scleroderma,DOID:8472,, +BMGC_DS02257,BMG_DS002909,Systemic Scleroderma,UMLS ID:C0036421,,,,,systemic sclerosis,MONDO:0005100,"Scleroderma, Systemic",MeSH ID:D012595,systemic scleroderma,DOID:418,, +BMGC_DS02258,BMG_DS002910,"Scoliosis, unspecified",UMLS ID:C0036439,,,Scoliosis,ICD11 ID:FA70.1,scoliosis,MONDO:0005392,,,scoliosis,DOID:0060249,ICD10 ID:M41.9, +BMGC_DS02259,BMG_DS002911,,UMLS ID:C0036454,,,,,scotoma,MONDO:0004758,,,,,, +BMGC_DS02260,BMG_DS002912,Scrapie,UMLS ID:C0036457,Scrapie | Scrapie (disorder),SNOMEDCT ID:35103004,,,scrapie,MONDO:0006961,Scrapie,MeSH ID:D012608,scrapie,DOID:5434,, +BMGC_DS02261,BMG_DS002913,Screw Worm Infection,UMLS ID:C0036465,,,,,screw worm infectious disease,MONDO:0005954,Screw Worm Infection,MeSH ID:D012610,screw worm infectious disease,DOID:12927,, +BMGC_DS02262,BMG_DS002915,Scrub Typhus,UMLS ID:C0036472,,,,,scrub typhus,MONDO:0019365,Scrub Typhus,MeSH ID:D012612,scrub typhus,DOID:13371,, +BMGC_DS02263,BMG_DS002916,Scurvy,UMLS ID:C0036474,(Ascorbic acid (vitamin C) deficiency) or (scurvy) | Ascorbic acid (vitamin C) deficiency | Vitamin C deficiency | Scurvy | (Ascorbic acid (vitamin C) deficiency) or (scurvy) (disorder) | Ascorbic acid deficiency (& [scurvy]) | Ascorbic acid deficiency | Ascorbic acid defic. | Scurvy | Ascorbic acid deficiency (& [scurvy]) (disorder) | Scurvy | Scurvy (disorder) | Ascorbic acid deficiency | Scurvy | Vitamin C deficiency | Ascorbic acid deficiency (disorder) | Deficiency of ascorbic acid,SNOMEDCT ID:190638001 | SNOMEDCT ID:267493006 | SNOMEDCT ID:154727008 | SNOMEDCT ID:238129003 | SNOMEDCT ID:76169001,,,scurvy,MONDO:0009412,Scurvy,MeSH ID:D012614,scurvy,DOID:13724,ICD10 ID:E54,OMIM ID:240400 +BMGC_DS02264,BMG_DS002917,Sea-Blue Histiocyte Syndrome,UMLS ID:C0036489,,,,,sea-blue histiocyte syndrome,MONDO:0010017,Sea-Blue Histiocyte Syndrome,MeSH ID:D012618,sea-blue histiocytosis,DOID:4423,,OMIM ID:269600 +BMGC_DS02265,BMG_DS002918,Seasickness,UMLS ID:C0036494,,,Motion sickness,ICD11 ID:NF08.3,,,Motion Sickness,MeSH ID:D009041,,,ICD10 ID:T75.3, +BMGC_DS02266,BMG_DS002919,Sebaceous Gland Diseases,UMLS ID:C0036502,,,,,sebaceous gland disorder,MONDO:0006607,Sebaceous Gland Diseases,MeSH ID:D012625,,,, +BMGC_DS02267,BMG_DS002920,,UMLS ID:C0036503,,,,,sebaceous gland neoplasm,MONDO:0006963,,,sebaceous gland neoplasm,DOID:5759,, +BMGC_DS02268,BMG_DS002921,Seborrheic dermatitis,UMLS ID:C0036508,Seborrheic dermatitis | Seborrhoeic dermatitis | Seborrhoeic dermatitis (disorder) | Seborrhoeic dermatitis (& capitis) | Seborrhoeic dermatitis | Seborrhoeic dermatitis capitis | Seborrhoeic eczema | Seborrheic dermatitis | Seborrheic eczema | Seborrheic dermatitis capitis | Seborrheic dermatitis (& capitis) | Seborrhoeic dermatitis (& capitis) (disorder) | Seborrheic dermatitis | Seborrheic eczema | Seborrhoeic dermatitis | Seborrhoeic eczema | Seborrheic dermatitis (disorder) | SBD - Seborrhoeic dermatitis | SBD - Seborrheic dermatitis,SNOMEDCT ID:156328004 | SNOMEDCT ID:200764003 | SNOMEDCT ID:50563003,,,seborrheic dermatitis,MONDO:0006608,,,seborrheic dermatitis,DOID:8741,ICD10 ID:L21,OMIM ID:MTHU011118 +BMGC_DS02269,BMG_DS002922,"Myocardial Diseases, Secondary",UMLS ID:C0036529,,,,,,,Cardiomyopathies,MeSH ID:D009202,cardiomyopathy,DOID:0050700,, +BMGC_DS02270,BMG_DS002923,,UMLS ID:C0036631,,,,,seminoma,MONDO:0003001,,,seminoma | testis seminoma,DOID:5842;DOID:4440,, +BMGC_DS02271,BMG_DS002924,,UMLS ID:C0036646,,,,,senile cataract,MONDO:0004847,,,senile cataract,DOID:9669,, +BMGC_DS02272,BMG_DS002926,Sensation Disorders,UMLS ID:C0036659,,,,,,,Sensation Disorders,MeSH ID:D012678,,,, +BMGC_DS02273,BMG_DS002930,Septicemia,UMLS ID:C0036690,Septicemia | Septicaemia | Septicemia (disorder) | Septicemia | Septicaemia | Septicaemia (disorder),SNOMEDCT ID:105592009 | SNOMEDCT ID:154313001,,,,,Sepsis,MeSH ID:D018805,,,,OMIM ID:MTHU043659 +BMGC_DS02274,BMG_DS002932,,UMLS ID:C0036769,,,,,Sertoli cell tumor,MONDO:0002696,,,Sertoli cell tumor,DOID:3577,, +BMGC_DS02275,BMG_DS002933,Serum Sickness,UMLS ID:C0036830,,,,,serum sickness,MONDO:0043789,Serum Sickness,MeSH ID:D012713,,,, +BMGC_DS02276,BMG_DS002934,Setariasis,UMLS ID:C0036850,,,,,setariasis,MONDO:0005957,Setariasis,MeSH ID:D012719,setariasis,DOID:1079,, +BMGC_DS02277,BMG_DS002935,Sex Chromosome Aberrations,UMLS ID:C0036868,,,,,,,Sex Chromosome Aberrations,MeSH ID:D012729,,,, +BMGC_DS02278,BMG_DS002936,,UMLS ID:C0036875,,,,,,,,,disorder of sexual development,DOID:1923,, +BMGC_DS02279,BMG_DS002942,,UMLS ID:C0036920,,,,,Sezary syndrome,MONDO:0017844,,,Sezary's disease,DOID:8541,, +BMGC_DS02280,BMG_DS002945,,UMLS ID:C0036980,,,,,cardiogenic shock,MONDO:0800175,,,,,, +BMGC_DS02281,BMG_DS002946,Short Bowel Syndrome,UMLS ID:C0036992,,,,,short bowel syndrome,MONDO:0015183,Short Bowel Syndrome,MeSH ID:D012778,short bowel syndrome,DOID:10605,, +BMGC_DS02282,BMG_DS002947,Short Rib-Polydactyly Syndrome,UMLS ID:C0036996,,,,,short rib-polydactyly syndrome,MONDO:0015461,Short Rib-Polydactyly Syndrome,MeSH ID:D012779,,,, +BMGC_DS02283,BMG_DS002948,Shwartzman Phenomenon,UMLS ID:C0037018,,,,,Shwartzman phenomenon,MONDO:0002783,Shwartzman Phenomenon,MeSH ID:D012790,Shwartzman phenomenon,DOID:3825,, +BMGC_DS02284,BMG_DS002949,Shy-Drager Syndrome,UMLS ID:C0037019,,,,,,,Shy-Drager Syndrome,MeSH ID:D012791,multiple system atrophy,DOID:4752,, +BMGC_DS02285,BMG_DS002950,Sialadenitis,UMLS ID:C0037023,Sialoadenitis | Sialadenitis | Sialoadenitis (disorder),SNOMEDCT ID:42982001,,,sialadenitis,MONDO:0006969,Sialadenitis,MeSH ID:D012793,sialadenitis,DOID:10303,, +BMGC_DS02286,BMG_DS002951,"Sialometaplasia, Necrotizing",UMLS ID:C0037033,,,,,necrotizing sialometaplasia,MONDO:0006864,"Sialometaplasia, Necrotizing",MeSH ID:D012797,necrotizing sialometaplasia,DOID:12901,, +BMGC_DS02287,BMG_DS002952,Sialorrhea,UMLS ID:C0037036,Hypersecretion of saliva | Salivary hypersecretion | Sialorrhea | Sialosis | Hypersalivation | Polysialia | Sialism | Sialismus | Ptyalorrhea | Hypersecretion of salivary gland | Hyperactive salivary flow | Sialorrhoea | Ptyalorrhoea | Excessive salivation | Excessive salivation (disorder),SNOMEDCT ID:53827007,,,,,Sialorrhea,MeSH ID:D012798,,,,OMIM ID:MTHU014490 +BMGC_DS02288,BMG_DS002953,Sick Building Syndrome,UMLS ID:C0037050,,,,,sick building syndrome,MONDO:0005959,Sick Building Syndrome,MeSH ID:D018877,sick building syndrome,DOID:2710,, +BMGC_DS02289,BMG_DS002954,Sick Sinus Syndrome,UMLS ID:C0037052,,,,,sick sinus syndrome,MONDO:0001823,Sick Sinus Syndrome,MeSH ID:D012804,sick sinus syndrome,DOID:13884,, +BMGC_DS02290,BMG_DS002955,Sickle Cell Trait,UMLS ID:C0037054,,,,,,,Sickle Cell Trait,MeSH ID:D012805,,,, +BMGC_DS02291,BMG_DS002956,Siderosis,UMLS ID:C0037061,Siderosis | Pneumoconiosis NOS | (Pneumoconiosis NOS) or (siderosis) | (Pneumoconiosis NOS) or (siderosis) (disorder) | (Pneumoconiosis NOS) or (siderosis) | Pneumoconiosis NOS | Siderosis | (Pneumoconiosis NOS) or (siderosis) (disorder) | Pulmonary siderosis | Arc-welders' lung | Arc-welders' pneumoconiosis | Welders' lung | Arc-welders' disease | Welders' siderosis | Arc-welders' nodulation | Iron oxide lung | Pneumoconiosis siderotico | Siderotic lung disease | Steel grinders' disease | Iron pneumoconiosis | Siderosis | Pulmonary siderosis (disorder) | Silver polishers' lung,SNOMEDCT ID:155591007 | SNOMEDCT ID:266401007 | SNOMEDCT ID:62371005,Siderosis,ICD11 ID:CA60.8,,,Siderosis,MeSH ID:D012806,siderosis,DOID:10328,ICD10 ID:J63.4, +BMGC_DS02292,BMG_DS002957,Sigmoid Diseases,UMLS ID:C0037072,,,,,sigmoid disease,MONDO:0002139,Sigmoid Diseases,MeSH ID:D012810,sigmoid disease,DOID:1897,, +BMGC_DS02293,BMG_DS002958,,UMLS ID:C0037073,,,,,sigmoid neoplasm,MONDO:0006971,,,sigmoid neoplasm,DOID:1896,, +BMGC_DS02294,BMG_DS002960,Silicosis,UMLS ID:C0037116,Silicosis | Nodular silicosis | Silicatosis | Pneumoconiosis caused by silica | Pneumoconiosis caused by silica (disorder) | Silicosis | Silicosis (disorder),SNOMEDCT ID:805002 | SNOMEDCT ID:155590008,,,silicosis,MONDO:0005960,Silicosis,MeSH ID:D012829,silicosis,DOID:10325,, +BMGC_DS02295,BMG_DS002962,Silo Filler's Disease,UMLS ID:C0037120,,,,,silo filler disease,MONDO:0006972,Silo Filler's Disease,MeSH ID:D012832,Silo filler's disease,DOID:4374,, +BMGC_DS02296,BMG_DS002963,B Virus Infection,UMLS ID:C0037140,,,,,Herpesviridae infectious disease,MONDO:0005794,Herpesviridae Infections,MeSH ID:D006566,,,, +BMGC_DS02297,BMG_DS002965,Single-Gene Defects,UMLS ID:C0037176,,,,,,,"Genetic Diseases, Inborn",MeSH ID:D030342,,,, +BMGC_DS02298,BMG_DS002966,Sinoatrial Block,UMLS ID:C0037188,,,,,sinoatrial block,MONDO:0020806,Sinoatrial Block,MeSH ID:D012848,,,, +BMGC_DS02299,BMG_DS002967,"Sinus Thrombosis, Intracranial",UMLS ID:C0037198,,,,,intracranial sinus thrombosis,MONDO:0002692,"Sinus Thrombosis, Intracranial",MeSH ID:D012851,intracranial sinus thrombosis,DOID:3572,, +BMGC_DS02300,BMG_DS002968,Sinusitis,UMLS ID:C0037199,Sinusitis | Sinusitis (disorder) | Sinusitis (& acute) | Acute sinusitis | Sinusitis | Sinusitis (& acute) (disorder),SNOMEDCT ID:275483004 | SNOMEDCT ID:195649005 | SNOMEDCT ID:36971009,,,sinusitis,MONDO:0005961,Sinusitis,MeSH ID:D012852,,,,OMIM ID:MTHU006260 +BMGC_DS02301,BMG_DS002969,,UMLS ID:C0037205,,,,,sirenomelia,MONDO:0017850,,,,,, +BMGC_DS02302,BMG_DS002970,,UMLS ID:C0037221,,,,,,,,,situs inversus,DOID:758,, +BMGC_DS02303,BMG_DS002971,Sjogren-Larsson Syndrome,UMLS ID:C0037231,,,,,Sjogren-Larsson syndrome,MONDO:0010031,Sjogren-Larsson Syndrome,MeSH ID:D016111,Sjogren-Larsson syndrome,DOID:14501,,OMIM ID:270200 +BMGC_DS02304,BMG_DS002973,,UMLS ID:C0037274,,,,,skin disorder,MONDO:0005093,,,skin disease,DOID:37,, +BMGC_DS02305,BMG_DS002974,"Skin Diseases, Vesiculobullous",UMLS ID:C0037275,,,,,vesiculobullous skin disease,MONDO:0006617,"Skin Diseases, Vesiculobullous",MeSH ID:D012872,vesiculobullous skin disease,DOID:2731,, +BMGC_DS02306,BMG_DS002975,"Skin Diseases, Genetic",UMLS ID:C0037277,,,,, | hereditary skin disorder,MONDO:0100118,"Skin Diseases, Genetic",MeSH ID:D012873,skin disease,DOID:37,, +BMGC_DS02307,BMG_DS002976,"Skin Diseases, Infectious",UMLS ID:C0037278,,,,,skin disorder caused by infection | skin infection,MONDO:0024294;MONDO:0021201,"Skin Diseases, Infectious",MeSH ID:D012874,,,, +BMGC_DS02308,BMG_DS002980,,UMLS ID:C0037286,,,,,skin neoplasm,MONDO:0002531,,,skin benign neoplasm,DOID:3165,, +BMGC_DS02309,BMG_DS002981,,UMLS ID:C0037293,,,,,skin tag,MONDO:0004026,,,skin tag,DOID:6873,, +BMGC_DS02310,BMG_DS002982,Skin Ulcer,UMLS ID:C0037299,,,,,,,Skin Ulcer,MeSH ID:D012883,,,, +BMGC_DS02311,BMG_DS002983,,UMLS ID:C0037305,,,,,skull neoplasm,MONDO:0024653,,,skull cancer,DOID:1863,, +BMGC_DS02312,BMG_DS002984,Sleep Apnea Syndromes,UMLS ID:C0037315,,,,,sleep apnea syndrome,MONDO:0005296,Sleep Apnea Syndromes,MeSH ID:D012891,sleep apnea,DOID:0050847,, +BMGC_DS02313,BMG_DS002986,Smallpox,UMLS ID:C0037354,Smallpox | Variola | Smallpox (disorder) | Cowpox | Milker's node | Smallpox | Orf | Roseola infantum | Variola major | Other viral exanthemata | Fourth disease | Milkers' node | Fifth disease | Parascarlatina | Pseudocowpox | (Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Pseudocowpox | Fifth disease | Other viral exanthemata | Roseola infantum | Variola major | Cowpox | Parascarlatina | Fourth disease | Milkers' node | Milker's node | Smallpox | Orf | (Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder),SNOMEDCT ID:67924001 | SNOMEDCT ID:154344005 | SNOMEDCT ID:266193008,,,smallpox,MONDO:0004651,Smallpox,MeSH ID:D012899,smallpox,DOID:8736,ICD10 ID:B03, +BMGC_DS02314,BMG_DS002990,,UMLS ID:C0037579,,,,,soft tissue neoplasm,MONDO:0006424,,,connective tissue benign neoplasm,DOID:0060123,, +BMGC_DS02315,BMG_DS002992,,UMLS ID:C0037619,,,,,solitary cyst of breast,MONDO:0001009,,,solitary cyst of breast,DOID:10349,, +BMGC_DS02316,BMG_DS002993,,UMLS ID:C0037650,,,,,somatoform disorder,MONDO:0003117,,,somatoform disorder,DOID:4737,, +BMGC_DS02317,BMG_DS002994,,UMLS ID:C0037661,,,,,somatostatinoma,MONDO:0006976,,,somatostatinoma,DOID:4430,, +BMGC_DS02318,BMG_DS002995,Somnambulism,UMLS ID:C0037672,Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) | Sleep disorders | Insomnia | Nightmares | Sleepwalking | Walking in sleep | Somnambulism | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) (disorder) | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) | Nightmares | Somnambulism | Walking in sleep | Sleep disorders | Insomnia | Sleepwalking | Sleep disorders (& [insomnia] or [nightmares] or [sleepwalking (& somnambulism)]) (disorder) | Sleep walking disorder | Somnambulism | Sleep walking | Sleep walking disorder (disorder) | Sleepwalking disorder | Sleepwalking,SNOMEDCT ID:154927001 | SNOMEDCT ID:268775007 | SNOMEDCT ID:80495009,,,,,Somnambulism,MeSH ID:D013009,,,, +BMGC_DS02319,BMG_DS002996,Sparganosis,UMLS ID:C0037753,Sparganosis | Larval dibothriocephaliasis | Larval diphyllobothriasis | Sparganosis - larval diphyllobothriasis | Sparganosis (disorder) | Infection by Spirometra larvae | Sparganosis | Larval diphyllobothriasis | Spirometriosis | Spirometrosis | Larval dibothriocephaliasis | Sparganosis - larval diphyllobothriasis | Infection caused by Spirometra larvae (disorder) | Infection caused by Spirometra larvae,SNOMEDCT ID:187152002 | SNOMEDCT ID:31659000,Sparganosis,ICD11 ID:1F75,sparganosis,MONDO:0005963,Sparganosis,MeSH ID:D013031,sparganosis,DOID:10080,ICD10 ID:B70.1, +BMGC_DS02320,BMG_DS002997,Spasmophilia,UMLS ID:C0037768,,,,,,,Tetany,MeSH ID:D013746,,,, +BMGC_DS02321,BMG_DS002998,West Syndrome,UMLS ID:C0037769,,,,,West syndrome,MONDO:0018097,"Spasms, Infantile",MeSH ID:D013036,West syndrome,DOID:0050562,, +BMGC_DS02322,BMG_DS002999,Spastic Paraplegia,UMLS ID:C0037772,,,,,,,Paraplegia,MeSH ID:D010264,,,, +BMGC_DS02323,BMG_DS003000,"Spastic Paraplegia, Hereditary",UMLS ID:C0037773,,,,,hereditary spastic paraplegia,MONDO:0019064,"Spastic Paraplegia, Hereditary",MeSH ID:D015419,hereditary spastic paraplegia,DOID:2476,, +BMGC_DS02324,BMG_DS003002,Speech Disorders,UMLS ID:C0037822,,,,,speech disorder,MONDO:0004730,Speech Disorders,MeSH ID:D013064,speech disorder,DOID:92,, +BMGC_DS02325,BMG_DS003003,Spermatic Cord Torsion,UMLS ID:C0037856,,,,,spermatic cord torsion,MONDO:0008541,Spermatic Cord Torsion,MeSH ID:D013086,spermatic cord torsion,DOID:11996,,OMIM ID:187400 +BMGC_DS02326,BMG_DS003004,Spermatocele,UMLS ID:C0037859,Spermatocele | Spermatocele (disorder) | Spermatocele | Spermatocele (disorder) | Spermatic cyst,SNOMEDCT ID:155936007 | SNOMEDCT ID:49263001,,,spermatocele,MONDO:0006977,Spermatocele,MeSH ID:D013088,spermatocele,DOID:11997,, +BMGC_DS02327,BMG_DS003005,Sphenoid Sinusitis,UMLS ID:C0037886,,,,,sphenoid sinusitis,MONDO:0005964,Sphenoid Sinusitis,MeSH ID:D015524,sphenoid sinusitis,DOID:10794,, +BMGC_DS02328,BMG_DS003007,Hereditary spherocytosis,UMLS ID:C0037889,Hereditary spherocytosis | Hereditary spherocytosis (disorder) | Hereditary spherocytosis | Familial spherocytosis | Minkowsky-Chauffard syndrome | Congenital spherocytosis | Familial acholuric jaundice | Congenital spherocytic hemolytic anemia | Congenital spherocytic haemolytic anaemia | Hereditary spherocytosis (disorder) | HS - Hereditary spherocytosis,SNOMEDCT ID:154795009 | SNOMEDCT ID:55995005,Other specified hereditary haemolytic anaemia,ICD11 ID:3A10.Y,hereditary spherocytosis,MONDO:0019350,,,hereditary spherocytosis,DOID:12971,ICD10 ID:D58.0, +BMGC_DS02329,BMG_DS003008,Sphingolipidoses,UMLS ID:C0037899,,,,,sphingolipidosis,MONDO:0019255,Sphingolipidoses,MeSH ID:D013106,sphingolipidosis,DOID:1927,, +BMGC_DS02330,BMG_DS003009,,UMLS ID:C0037917,,,,,spina bifida cystica,MONDO:0017069,,,,,, +BMGC_DS02331,BMG_DS003011,Compression of spinal cord,UMLS ID:C0037926,Spinal cord compression | Spinal cord compression (disorder) | SCC - Spinal cord compression | Compression of spinal cord,SNOMEDCT ID:71286001,,,,,,,,,,OMIM ID:MTHU052252 +BMGC_DS02332,BMG_DS003012,Spinal Cord Diseases,UMLS ID:C0037928,,,,,spinal cord disorder,MONDO:0002545,Spinal Cord Diseases,MeSH ID:D013118,spinal cord disease,DOID:319,, +BMGC_DS02333,BMG_DS003013,,UMLS ID:C0037930,,,,,spinal cord neoplasm,MONDO:0021234,,,spinal cancer,DOID:5612,, +BMGC_DS02334,BMG_DS003014,Spinal Diseases,UMLS ID:C0037933,,,,,vertebral column disorder,MONDO:0000812,Spinal Diseases,MeSH ID:D013122,,,, +BMGC_DS02335,BMG_DS003015,,UMLS ID:C0037939,,,,,,,,,spinal cancer,DOID:5612,, +BMGC_DS02336,BMG_DS003018,Spinocerebellar Degeneration,UMLS ID:C0037952,,,,,,,Spinocerebellar Degenerations,MeSH ID:D013132,,,, +BMGC_DS02337,BMG_DS003020,Splenic Diseases,UMLS ID:C0037997,,,,,splenic disorder,MONDO:0002332,Splenic Diseases,MeSH ID:D013158,splenic disease,DOID:2529,, +BMGC_DS02338,BMG_DS003021,Splenic Infarction,UMLS ID:C0037998,,,,,splenic infarction,MONDO:0006978,Splenic Infarction,MeSH ID:D013159,splenic infarction,DOID:2533,, +BMGC_DS02339,BMG_DS003022,,UMLS ID:C0037999,,,,,spleen neoplasm,MONDO:0036696,,,spleen cancer,DOID:672,, +BMGC_DS02340,BMG_DS003023,Spondylitis,UMLS ID:C0038012,Spondylitis | Spondylitis (disorder) | Spondarthritis,SNOMEDCT ID:84172003,,,spondylitis,MONDO:0003937,Spondylitis,MeSH ID:D013166,,,, +BMGC_DS02341,BMG_DS003024,Ankylosing spondylitis,UMLS ID:C0038013,Ankylosing spondylitis | Marie Strümpell spondylitis | Spondylosis deformans | Bekhterev's disease | Ankylosing spondylitis (disorder) | Marie-Strumpell spondylitis | Idiopathic ankylosing spondylitis | AS - Ankylosing spondylitis | Ankylosing spondylitis | Ankylosing spondylitis (disorder),SNOMEDCT ID:9631008 | SNOMEDCT ID:156619005,,,ankylosing spondylitis,MONDO:0005306,,,ankylosing spondylitis,DOID:7147,ICD10 ID:M45,OMIM ID:MTHU036410 +BMGC_DS02342,BMG_DS003025,Spondyloepiphyseal Dysplasia,UMLS ID:C0038015,,,,,spondyloepiphyseal dysplasia,MONDO:0016761,Osteochondrodysplasias,MeSH ID:D010009,,,, +BMGC_DS02343,BMG_DS003026,Spondylolisthesis,UMLS ID:C0038016,"Spondylolisthesis | SPL - Spondylolisthesis | Spondylolisthesis (disorder) | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) | Occulta - spina bifida | Spina bifida occulta | Klippel-Feil syndrome | Hemivertebra | Spondylolisthesis | Spine anomaly - congenital | Bifida, spina - occulta | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) (disorder) | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) | Spine anomaly - congenital | Klippel-Feil syndrome | Occulta - spina bifida | Bifida, spina - occulta | Spondylolisthesis | Hemivertebra | Spina bifida occulta | (Spine anomaly - congenital) or (hemivertebra) or (Klippel-Feil syndrome) or (spina bifida occulta) or (spondylolisthesis) (disorder)",SNOMEDCT ID:274152003 | SNOMEDCT ID:268349005 | SNOMEDCT ID:157003009,"Spondylolisthesis, unspecified",ICD11 ID:FA84.Z,spondylolisthesis,MONDO:0008475,Spondylolisthesis,MeSH ID:D013168,spondylolisthesis,DOID:6682,ICD10 ID:M43.1,OMIM ID:184200 | OMIM ID:MTHU009825 +BMGC_DS02344,BMG_DS003027,Spondylolysis,UMLS ID:C0038018,Spondylolysis | Spondylolysis (disorder),SNOMEDCT ID:240221008 | SNOMEDCT ID:203688008,"Spondylolysis, unspecified",ICD11 ID:FA81.Z,spondylolysis,MONDO:0005541,Spondylolysis,MeSH ID:D013169,spondylolysis,DOID:2300,ICD10 ID:M43.0,OMIM ID:MTHU036588 +BMGC_DS02345,BMG_DS003028,Spondylosis,UMLS ID:C0038019,Spondylosis | Spondylarthrosis | Spondylosis (disorder) | Spondarthropathy,SNOMEDCT ID:8847002,,,spondylosis,MONDO:0002253,Spondylosis,MeSH ID:D055009,spondylosis,DOID:2247,ICD10 ID:M47,OMIM ID:MTHU049981 +BMGC_DS02346,BMG_DS003029,Spondylosis Deformans,UMLS ID:C0038020,,,,,,,Spondylosis,MeSH ID:D055009,,,, +BMGC_DS02347,BMG_DS003031,Spotted Fever Group Rickettsiosis,UMLS ID:C0038041,,,,,,,Spotted Fever Group Rickettsiosis,MeSH ID:D000073605,spotted fever,DOID:11104,, +BMGC_DS02348,BMG_DS003032,"Sprue, Tropical",UMLS ID:C0038054,,,,,tropical sprue,MONDO:0001078,"Sprue, Tropical",MeSH ID:D013182,tropical sprue,DOID:10607,, +BMGC_DS02349,BMG_DS003033,,UMLS ID:C0038131,,,,,stutter disorder,MONDO:0000723,,,stuttering,DOID:0060243,, +BMGC_DS02350,BMG_DS003034,Staphylococcal enterocolitis,UMLS ID:C0038157,Staphylococcal enterocolitis | Staphylococcal enterocolitis (disorder),SNOMEDCT ID:32527003,,,,,,,,,, +BMGC_DS02351,BMG_DS003036,Staphylococcal Infections,UMLS ID:C0038160,,,,,staphylococcal infection,MONDO:0024313,Staphylococcal Infections,MeSH ID:D013203,,,, +BMGC_DS02352,BMG_DS003038,Staphylococcal Skin Infections,UMLS ID:C0038166,,,,,,,Staphylococcal Skin Infections,MeSH ID:D013207,,,, +BMGC_DS02353,BMG_DS003039,Status Asthmaticus,UMLS ID:C0038218,,,,,status asthmaticus,MONDO:0004766,Status Asthmaticus,MeSH ID:D013224,status asthmaticus,DOID:9362,, +BMGC_DS02354,BMG_DS003040,Status Epilepticus,UMLS ID:C0038220,,,,,status epilepticus,MONDO:0002125,Status Epilepticus,MeSH ID:D013226,status epilepticus,DOID:1824,, +BMGC_DS02355,BMG_DS003042,,UMLS ID:C0038238,,,,,steatorrhea,MONDO:0001075,,,,,, +BMGC_DS02356,BMG_DS003044,,UMLS ID:C0038273,,,,,stereotypic movement disorder,MONDO:0002265,,,stereotypic movement disorder,DOID:2303,, +BMGC_DS02357,BMG_DS003045,Stevens-Johnson Syndrome,UMLS ID:C0038325,,,,,Stevens-Johnson syndrome,MONDO:0018229,Stevens-Johnson Syndrome,MeSH ID:D013262,Stevens-Johnson syndrome,DOID:0050426,,OMIM ID:608579 +BMGC_DS02358,BMG_DS003046,Gastric Dilatation,UMLS ID:C0038353,,,,,gastric dilatation,MONDO:0002569,Gastric Dilatation,MeSH ID:D013271,gastric dilatation,DOID:3229,, +BMGC_DS02359,BMG_DS003047,Stomach Diseases,UMLS ID:C0038354,,,,,stomach disorder,MONDO:0004298,Stomach Diseases,MeSH ID:D013272,stomach disease,DOID:76,, +BMGC_DS02360,BMG_DS003048,,UMLS ID:C0038356,,,,,gastric neoplasm,MONDO:0021085,,,stomach cancer,DOID:10534,, +BMGC_DS02361,BMG_DS003050,Gastric ulcer,UMLS ID:C0038358,Gastric ulcer (disorder) | Gastric ulcer | Stomach ulcer | GU - Gastric ulcer | Gastric ulceration | Gastric peptic ulcer | Peptic ulcer of stomach | Gastric ulcer (& [prepyloric] or [pyloric]) | Prepyloric ulcer | Gastric ulcer | Pyloric ulcer | Gastric ulcer - (GU) | Gastric ulcer (& [prepyloric] or [pyloric]) (disorder) | Gastric ulcer | Peptic ulcer of stomach | Stomach ulcer | GU - Gastric peptic ulcer | GU - Gastric ulcer | Gastric peptic ulcer | Gastric ulceration | Gastric ulcer (disorder) | Gastric ulcer | Gastric ulcer (disorder),SNOMEDCT ID:397825006 | SNOMEDCT ID:196627009 | SNOMEDCT ID:6034002 | SNOMEDCT ID:155681009,,,gastric ulcer,MONDO:0001126,,,gastric ulcer,DOID:10808,ICD10 ID:K25, +BMGC_DS02362,BMG_DS003052,Stomatitis,UMLS ID:C0038362,Stomatitis | Stomatitis (disorder) | Inflammatory condition of oral mucous membrane | Inflammation of mouth | Mucous membrane inflammation | Mucitis | Mucositis | Mucosal inflammation | Inflammatory disease of mucous membrane | Inflammatory disease of mucous membrane (disorder),SNOMEDCT ID:61170000 | SNOMEDCT ID:95361005,,,stomatitis,MONDO:0004842,Stomatitis,MeSH ID:D013280,stomatitis,DOID:9637,,OMIM ID:MTHU008854 +BMGC_DS02363,BMG_DS003053,Aphthous Stomatitis,UMLS ID:C0038363,,,,,aphthous stomatitis,MONDO:0004845,"Stomatitis, Aphthous",MeSH ID:D013281,aphthous stomatitis,DOID:9663,, +BMGC_DS02364,BMG_DS003054,"Stomatitis, Denture",UMLS ID:C0038364,,,,,denture stomatitis,MONDO:0006723,"Stomatitis, Denture",MeSH ID:D013282,denture stomatitis,DOID:11875,, +BMGC_DS02365,BMG_DS003056,Ulcerative stomatitis,UMLS ID:C0038367,Ulcerative stomatitis | Ulcerative stomatitis (disorder),SNOMEDCT ID:450005,"Disorder of oral mucosa, unspecified",ICD11 ID:DA01.Z,ulcerative stomatitis,MONDO:0004848,,,ulcerative stomatitis,DOID:9673,ICD10 ID:K12.1,OMIM ID:MTHU007446 +BMGC_DS02366,BMG_DS003057,Stomatognathic Diseases,UMLS ID:C0038368,,,,,,,Stomatognathic Diseases,MeSH ID:D009057,,,, +BMGC_DS02367,BMG_DS003058,Strabismus,UMLS ID:C0038379,Strabismus | Squint | Ocular dissociation | Disorder of binocular eye movements | Strabismus (disorder),SNOMEDCT ID:22066006,,,strabismus,MONDO:0003432,Strabismus,MeSH ID:D013285,,,,OMIM ID:MTHU000389 +BMGC_DS02368,BMG_DS003059,Streptococcal Infections,UMLS ID:C0038395,,,,,streptococcal infection,MONDO:0021680,Streptococcal Infections,MeSH ID:D013290,,,, +BMGC_DS02369,BMG_DS003060,,UMLS ID:C0038436,,,,,post-traumatic stress disorder,MONDO:0005146,,,post-traumatic stress disorder,DOID:2055,, +BMGC_DS02370,BMG_DS003061,Female stress incontinence,UMLS ID:C0038437,Female stress incontinence | Female urinary stress incontinence (finding) | Female urinary stress incontinence,SNOMEDCT ID:60241006,,,female stress incontinence,MONDO:0004160,,,female stress incontinence,DOID:724,, +BMGC_DS02371,BMG_DS003062,Cerebrovascular accident,UMLS ID:C0038454,Cerebrovascular: [disease] or [accident] | Cerebrovascular disease | Cerebrovascular accident | Cerebrovascular: [disease] or [accident] (disorder) | Cerebrovascular accident | Cerebrovascular accident (disorder) | Stroke NOS | Cerebrovascular accident | Stroke/CVA - undefined | Accident - cerebrovascular | Cerebral infarct | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) (disorder) | CVA - Cerebrovascular accident | Stroke | Cerebrovascular accident | Cerebrovascular accident (disorder) | Cerebrovascular: [disease] or [accident] | Cerebrovascular accident | Cerebrovascular disease | Cerebrovascular: [disease] or [accident] (disorder) | Accident - cerebrovascular | Stroke NOS | Cerebral infarct | Stroke/CVA - undefined | Cerebrovascular accident | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) | (Cerebral infarct) or (cerebrovascular accident) or (undefined stroke/CVA) or (stroke NOS) (disorder),SNOMEDCT ID:266312006 | SNOMEDCT ID:82797006 | SNOMEDCT ID:266315008 | SNOMEDCT ID:230690007 | SNOMEDCT ID:155388006 | SNOMEDCT ID:155405006,,,stroke disorder,MONDO:0005098,,,,,,OMIM ID:MTHU012420 +BMGC_DS02372,BMG_DS003063,"Stromal Dystrophies, Corneal",UMLS ID:C0038457,,,,,stromal corneal dystrophy,MONDO:0020213,"Corneal Dystrophies, Hereditary",MeSH ID:D003317,,,, +BMGC_DS02373,BMG_DS003064,"Strongyle Infections, Equine",UMLS ID:C0038459,,,,,"strongyle infections, equine",MONDO:0025263,"Strongyle Infections, Equine",MeSH ID:D013319,,,, +BMGC_DS02374,BMG_DS003065,Strongyloidiasis,UMLS ID:C0038463,Infection by Strongyloides | Strongyloidiasis | Strongyloidosis | Infection caused by Strongyloides | Infection caused by Strongyloides (disorder),SNOMEDCT ID:1214006,,,strongyloidiasis,MONDO:0005974,Strongyloidiasis,MeSH ID:D013322,strongyloidiasis,DOID:10955,ICD10 ID:B78, +BMGC_DS02375,BMG_DS003067,Sturge-Weber Syndrome,UMLS ID:C0038505,,,,,Sturge-Weber syndrome,MONDO:0008501,Sturge-Weber Syndrome,MeSH ID:D013341,Sturge-Weber syndrome,DOID:0111563,,OMIM ID:185300 +BMGC_DS02376,BMG_DS003068,,UMLS ID:C0038506,,,,,,,,,stuttering,DOID:0060243,, +BMGC_DS02377,BMG_DS003069,Subacute Sclerosing Panencephalitis,UMLS ID:C0038522,,,,,subacute sclerosing panencephalitis,MONDO:0009835,Subacute Sclerosing Panencephalitis,MeSH ID:D013344,subacute sclerosing panencephalitis,DOID:8970,,OMIM ID:260470 +BMGC_DS02378,BMG_DS003070,Subarachnoid Hemorrhage,UMLS ID:C0038525,,,,,subarachnoid hemorrhage,MONDO:0005099,Subarachnoid Hemorrhage,MeSH ID:D013345,,,, +BMGC_DS02379,BMG_DS003071,Subclavian Steal Syndrome,UMLS ID:C0038531,,,,,subclavian steal syndrome,MONDO:0006983,Subclavian Steal Syndrome,MeSH ID:D013349,subclavian steal syndrome,DOID:13002,, +BMGC_DS02380,BMG_DS003072,"Empyema, Subdural",UMLS ID:C0038539,,,,,subdural empyema,MONDO:0006984,"Empyema, Subdural",MeSH ID:D013354,subdural empyema,DOID:11389,, +BMGC_DS02381,BMG_DS003074,Submandibular Gland Diseases,UMLS ID:C0038557,,,,,submandibular gland disorder,MONDO:0001597,Submandibular Gland Diseases,MeSH ID:D013364,submandibular gland disease,DOID:12897,, +BMGC_DS02382,BMG_DS003081,Sudden infant death syndrome,UMLS ID:C0038644,Sudden infant death syndrome | Unexpected sudden death of infant | Crib death | Cot death | Sudden infant death syndrome (finding) | SIDS - sudden infant death syndrome,SNOMEDCT ID:51178009,,,,,,,sudden infant death syndrome,DOID:9007,, +BMGC_DS02383,BMG_DS003082,Sulfhemoglobinemia,UMLS ID:C0038732,Sulfhemoglobinemia | Sulphaemoglobinaemia | Sulfhemoglobinemia (disorder),SNOMEDCT ID:32117000,,,sulfhemoglobinemia,MONDO:0006988,Sulfhemoglobinemia,MeSH ID:D013436,sulfhemoglobinemia,DOID:12451,, +BMGC_DS02384,BMG_DS003084,Superinfection,UMLS ID:C0038826,Superinfection | Superinfection (disorder) | Superimposed infection | Superimposed infection (disorder),SNOMEDCT ID:192337008 | SNOMEDCT ID:48657006,,,,,Superinfection,MeSH ID:D015163,,,, +BMGC_DS02385,BMG_DS003085,Superior Mesenteric Artery Syndrome,UMLS ID:C0038828,,,,,superior mesenteric artery syndrome,MONDO:0002687,Superior Mesenteric Artery Syndrome,MeSH ID:D013478,superior mesenteric artery syndrome,DOID:3557,, +BMGC_DS02386,BMG_DS003086,Superior Vena Cava Syndrome,UMLS ID:C0038833,,,,,superior vena cava syndrome,MONDO:0043287,Superior Vena Cava Syndrome,MeSH ID:D013479,,,, +BMGC_DS02387,BMG_DS003087,Superior Vena Cava Thrombosis,UMLS ID:C0038834,,,,,,,Superior Vena Cava Syndrome,MeSH ID:D013479,,,, +BMGC_DS02388,BMG_DS003088,Progressive supranuclear palsy,UMLS ID:C0038868,Progressive supranuclear ophthalmoplegia | Nuchal dystonia-dementia syndrome | Progressive supranuclear ophthalmoplegia (disorder) | Progressive supranuclear palsy | Progressive supranuclear palsy (disorder) | Progressive supranuclear palsy | Progressive supranuclear palsy (disorder) | PSP - progressive supranuclear palsy,SNOMEDCT ID:28978003 | SNOMEDCT ID:192975003 | SNOMEDCT ID:192976002,Progressive supranuclear palsy,ICD11 ID:8A00.10,progressive supranuclear palsy,MONDO:0019037,,,progressive supranuclear palsy,DOID:678,ICD10 ID:G23.1, +BMGC_DS02389,BMG_DS003089,"Neuralgia, Supraorbital",UMLS ID:C0038870,,,,,,,Neuralgia,MeSH ID:D009437,,,, +BMGC_DS02390,BMG_DS003090,,UMLS ID:C0038874,,,,,,,,,supratentorial cancer,DOID:1659,, +BMGC_DS02391,BMG_DS003091,,UMLS ID:C0038981,,,,,,,,,copper deficiency myelopathy,DOID:5112,, +BMGC_DS02392,BMG_DS003092,Sweat Gland Diseases,UMLS ID:C0038986,,,,,,,Sweat Gland Diseases,MeSH ID:D013543,sweat gland disease,DOID:1383,, +BMGC_DS02393,BMG_DS003093,,UMLS ID:C0038987,,,,,sweat gland neoplasm,MONDO:0002381,,,sweat gland benign neoplasm,DOID:2664,, +BMGC_DS02394,BMG_DS003095,"Sweating, Gustatory",UMLS ID:C0038994,,,,,Frey syndrome,MONDO:0007753,"Sweating, Gustatory",MeSH ID:D013547,Frey syndrome,DOID:11599,,OMIM ID:144100 +BMGC_DS02395,BMG_DS003096,Swine Diseases,UMLS ID:C0039006,,,,,swine disease,MONDO:0024990,Swine Diseases,MeSH ID:D013553,,,, +BMGC_DS02396,BMG_DS003099,Sycosis,UMLS ID:C0039023,Sycosis | Sycosis (disorder),SNOMEDCT ID:253005,,,,,Folliculitis,MeSH ID:D005499,,,, +BMGC_DS02397,BMG_DS003100,,UMLS ID:C0039075,,,,,syndactyly,MONDO:0021002,,,syndactyly,DOID:11193,, +BMGC_DS02398,BMG_DS003101,Syndrome,UMLS ID:C0039082,Disease | Clinical disease AND/OR syndrome | Disorder | Syndrome | Disorders | Diseases | Disease (disorder),SNOMEDCT ID:64572001,,,syndromic disease,MONDO:0002254,Syndrome,MeSH ID:D013577,syndrome,DOID:225,, +BMGC_DS02399,BMG_DS003103,,UMLS ID:C0039093,,,,,synostosis,MONDO:0001411,,,synostosis,DOID:11971,, +BMGC_DS02400,BMG_DS003104,,UMLS ID:C0039101,,,,,synovial sarcoma,MONDO:0010434,,,synovial sarcoma,DOID:5485,,OMIM ID:300813 +BMGC_DS02401,BMG_DS003105,Synovitis,UMLS ID:C0039103,Synovitis (disorder) | Synovitis | Synovitis | Synovitis (disorder) | Undifferentiated inflammatory arthritis | Synovitis &/or tenosynovitis | Synovitis | Synovitis/tenosynovitis | Tenosynovitis | Synovitis &/or tenosynovitis (disorder) | Synovitis/tenosynovitis | Tenosynovitis | Synovitis | Synovitis &/or tenosynovitis | Synovitis &/or tenosynovitis (disorder),SNOMEDCT ID:416209007 | SNOMEDCT ID:14107000 | SNOMEDCT ID:268092005 | SNOMEDCT ID:156666009,,,synovitis,MONDO:0002400,Synovitis,MeSH ID:D013585,synovitis,DOID:2703,, +BMGC_DS02402,BMG_DS003107,,UMLS ID:C0039106,,,,,"tenosynovial giant cell tumor, diffuse type",MONDO:0024686,,,pigmented villonodular synovitis,DOID:2702,, +BMGC_DS02403,BMG_DS003109,Syphilis,UMLS ID:C0039128,Syphilis | Syphilis (disorder) | (Syphilis (& [other and unspecified])) or (treponemal infection) | Other and unspecified syphilis | Treponemal infection | Syphilis | (Syphilis (& [other and unspecified])) or (treponemal infection) (disorder) | Syphilis | Lues | Infection by Treponema pallidum | Treponemal infection | Treponemal disease | Luetic disease | Syphilis (disorder),SNOMEDCT ID:154379007 | SNOMEDCT ID:186904000 | SNOMEDCT ID:76272004,,,syphilis,MONDO:0005976,Syphilis,MeSH ID:D013587,,,, +BMGC_DS02404,BMG_DS003111,"Syphilis, Congenital",UMLS ID:C0039131,,,,,congenital syphilis,MONDO:0005714,"Syphilis, Congenital",MeSH ID:D013590,congenital syphilis,DOID:9856,, +BMGC_DS02405,BMG_DS003113,"Syphilis, Latent",UMLS ID:C0039133,,,,,latent syphilis,MONDO:0005822,"Syphilis, Latent",MeSH ID:D013592,latent syphilis,DOID:9531,, +BMGC_DS02406,BMG_DS003115,Syringomyelia,UMLS ID:C0039144,(Myelopathy NOS) or (syringomyelia) | Syringomyelia | Myelopathy NOS | (Myelopathy NOS) or (syringomyelia) (disorder) | Syringomyelia | Myelopathy NOS | (Myelopathy NOS) or (syringomyelia) | (Myelopathy NOS) or (syringomyelia) (disorder) | Syringomyelia | Hydrosyringomyelia | Syringomyelia-anesthesia syndrome | Myelosyringosis | Syringomyelia-anaesthesia syndrome | Syringomyelia (disorder),SNOMEDCT ID:155020007 | SNOMEDCT ID:267695005 | SNOMEDCT ID:111496009,,,syringomyelia,MONDO:0017987,Syringomyelia,MeSH ID:D013595,syringomyelia,DOID:327,,OMIM ID:MTHU036587 +BMGC_DS02407,BMG_DS003117,Tabes Dorsalis,UMLS ID:C0039223,,,,,tabes dorsalis,MONDO:0005977,Tabes Dorsalis,MeSH ID:D013606,tabes dorsalis,DOID:10027,, +BMGC_DS02408,BMG_DS003118,"Tachycardia, Atrioventricular Nodal Reentry",UMLS ID:C0039232,,,,,,,"Tachycardia, Atrioventricular Nodal Reentry",MeSH ID:D013611,,,, +BMGC_DS02409,BMG_DS003119,"Tachycardia, Ectopic Atrial",UMLS ID:C0039234,,,,,,,"Tachycardia, Ectopic Atrial",MeSH ID:D013612,,,, +BMGC_DS02410,BMG_DS003121,"Tachycardia, Paroxysmal",UMLS ID:C0039236,,,,,,,"Tachycardia, Paroxysmal",MeSH ID:D013614,,,, +BMGC_DS02411,BMG_DS003123,Sinus Tachycardia,UMLS ID:C0039239,,,,,,,"Tachycardia, Sinus",MeSH ID:D013616,,,, +BMGC_DS02412,BMG_DS003124,Supraventricular tachycardia,UMLS ID:C0039240,Supraventricular tachycardia | Parox. supravent. tachycardia | Tachycardia - parox.sup | Paroxysmal atrial tachycardia | Supravent. tach. parox. | Paroxysmal artrial tachycardia | Paroxysmal sup. tachy. | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) | Tachycardia - parox.sup | Paroxysmal artrial tachycardia | Paroxysmal sup. tachy. | Paroxysmal atrial tachycardia | Supravent. tach. parox. | Supraventricular tachycardia | Parox. supravent. tachycardia | Supraventricular tachycardia (& [paroxysmal] or [paroxysmal artrial]) (disorder) | Supraventricular tachycardia | Supraventricular tachycardia (disorder) | SVT - Supraventricular tachycardia,SNOMEDCT ID:266305002 | SNOMEDCT ID:155363003 | SNOMEDCT ID:6456007,"Supraventricular tachyarrhythmia, unspecified",ICD11 ID:BC81.Z,,,,,,,ICD10 ID:I47.1,OMIM ID:MTHU067752 +BMGC_DS02413,BMG_DS003126,Takayasu Arteritis,UMLS ID:C0039263,,,,,Takayasu arteritis,MONDO:0017991,Takayasu Arteritis,MeSH ID:D013625,Takayasu's arteritis,DOID:2508,,OMIM ID:207600 +BMGC_DS02414,BMG_DS003127,Tangier Disease,UMLS ID:C0039292,,,,,Tangier disease,MONDO:0008783,Tangier Disease,MeSH ID:D013631,Tangier disease,DOID:1388,,OMIM ID:205400 +BMGC_DS02415,BMG_DS003128,Tarsal Tunnel Syndrome,UMLS ID:C0039319,,,,,tarsal tunnel syndrome,MONDO:0006994,Tarsal Tunnel Syndrome,MeSH ID:D013641,tarsal tunnel syndrome,DOID:12526,, +BMGC_DS02416,BMG_DS003129,Taste Disorders,UMLS ID:C0039338,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS02417,BMG_DS003130,Tay-Sachs Disease,UMLS ID:C0039373,,,,,Tay-Sachs disease,MONDO:0010100,Tay-Sachs Disease,MeSH ID:D013661,Tay-Sachs disease,DOID:3320,,OMIM ID:272800 +BMGC_DS02418,BMG_DS003131,Hereditary hemorrhagic telangiectasia,UMLS ID:C0039445,Osler hemorrhagic telangiectasia syndrome | Osler-Weber-Rendu disease | Hereditary hemorrhagic telangiectasia | Osler-Rendu-Weber syndrome | Osler-Rendu-Weber disease | Osler haemorrhagic telangiectasia syndrome | Hereditary haemorrhagic telangiectasia | HHT - Hereditary haemorrhagic telangiectasia | HHT - Hereditary hemorrhagic telangiectasia | Osler hemorrhagic telangiectasia syndrome (disorder) | Telangiectasia (& [hereditary hemorrhagic]) or diseases of capillaries NOS | Diseases of capillaries NOS | Telangiectasia | Vascular spider | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS | Heredit. hemorr.telang | Hereditary hemorrhagic telangiectasia | Hereditary haemorrhagic telangiectasia | Heredit. haemorr.telang | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS (disorder) | Diseases of capillaries NOS | Telangiectasia | Vascular spider | Heredit. haemorr.telang | Hereditary haemorrhagic telangiectasia | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS | Heredit. hemorr.telang | Hereditary hemorrhagic telangiectasia | Telangiectasia (& [hereditary hemorrhagic]) or diseases of capillaries NOS | Telangiectasia (& [hereditary haemorrhagic]) or diseases of capillaries NOS (disorder),SNOMEDCT ID:21877004 | SNOMEDCT ID:155449008 | SNOMEDCT ID:266324004,Hereditary haemorrhagic telangiectasia,ICD11 ID:LA90.00,hereditary hemorrhagic telangiectasia,MONDO:0019180,,,hereditary hemorrhagic telangiectasia,DOID:1270,ICD10 ID:I78.0, +BMGC_DS02419,BMG_DS003132,,UMLS ID:C0039446,,,,,telangiectasis,MONDO:0001576,,,telangiectasis,DOID:1272,, +BMGC_DS02420,BMG_DS003133,Giant Cell Arteritis,UMLS ID:C0039483,,,,,,,Giant Cell Arteritis,MeSH ID:D013700,temporal arteritis,DOID:13375,, +BMGC_DS02421,BMG_DS003135,Temporomandibular Joint Disorders,UMLS ID:C0039494,,,,,temporomandibular joint disorder,MONDO:0005473,Temporomandibular Joint Disorders,MeSH ID:D013705,,,, +BMGC_DS02422,BMG_DS003136,Temporomandibular Joint Dysfunction Syndrome,UMLS ID:C0039496,,,,,temporomandibular joint dysfunction syndrome,MONDO:0021895,Temporomandibular Joint Dysfunction Syndrome,MeSH ID:D013706,,,, +BMGC_DS02423,BMG_DS003137,Tendinitis,UMLS ID:C0039503,Tendinitis | Tendinitis (disorder) | Tendinitis | Tendonitis | Inflammatory disorder of tendon | Tendinitis (disorder),SNOMEDCT ID:312785002 | SNOMEDCT ID:34840004,,,tendinitis,MONDO:0004857,Tendinopathy,MeSH ID:D052256,tendinitis,DOID:971,, +BMGC_DS02424,BMG_DS003138,Tennis Elbow,UMLS ID:C0039516,,,,,,,Tennis Elbow,MeSH ID:D013716,epicondylitis,DOID:14087,, +BMGC_DS02425,BMG_DS003139,Tenosynovitis,UMLS ID:C0039520,Tenosynovitis | Inflammation of tendon sheath | Tenosynovitis (disorder) | Tenosynovitis | Tendinous synovitis | Tendovaginitis | Tenontolemmitis | Tenovaginitis | Inflammation of tendon sheath | Tenosynovitis (disorder) | Synovitis/tenosynovitis | Tenosynovitis | Synovitis | Synovitis &/or tenosynovitis | Synovitis &/or tenosynovitis (disorder) | Synovitis &/or tenosynovitis | Synovitis | Synovitis/tenosynovitis | Tenosynovitis | Synovitis &/or tenosynovitis (disorder),SNOMEDCT ID:240035004 | SNOMEDCT ID:67801009 | SNOMEDCT ID:156666009 | SNOMEDCT ID:268092005,,,tenosynovitis,MONDO:0004855,Tenosynovitis,MeSH ID:D013717,tenosynovitis,DOID:970,,OMIM ID:MTHU007362 +BMGC_DS02426,BMG_DS003140,,UMLS ID:C0039538,,,,,teratoma,MONDO:0002601,,,teratoma,DOID:3307,, +BMGC_DS02427,BMG_DS003141,Testicular Diseases,UMLS ID:C0039584,,,,,testicular disorder,MONDO:0002329,Testicular Diseases,MeSH ID:D013733,testicular disease,DOID:2519,, +BMGC_DS02428,BMG_DS003142,Androgen-Insensitivity Syndrome,UMLS ID:C0039585,,,,,androgen insensitivity syndrome,MONDO:0019154,Androgen-Insensitivity Syndrome,MeSH ID:D013734,androgen insensitivity syndrome,DOID:4674,,OMIM ID:300068 +BMGC_DS02429,BMG_DS003143,,UMLS ID:C0039590,,,,,neoplasm of testis,MONDO:0021348,,,testicular cancer,DOID:2998,, +BMGC_DS02430,BMG_DS003144,Tetanic cataract,UMLS ID:C0039613,Tetanic cataract | Tetanic cataract (disorder) | Tetanic cataract | Tetanic cataract (disorder) | Hypocalcaemic cataract | Hypocalcemic cataract,SNOMEDCT ID:193607003 | SNOMEDCT ID:68216000,,,tetanic cataract,MONDO:0001811,,,tetanic cataract,DOID:13822,, +BMGC_DS02431,BMG_DS003145,Tetanus,UMLS ID:C0039614,Tetanus | Tetanus (disorder),SNOMEDCT ID:154312006 | SNOMEDCT ID:76902006,,,tetanus,MONDO:0005526,Tetanus,MeSH ID:D013742,tetanus,DOID:11338,, +BMGC_DS02432,BMG_DS003146,,UMLS ID:C0039685,,,,,tetralogy of fallot,MONDO:0008542,,,tetralogy of Fallot,DOID:6419,,OMIM ID:187500 +BMGC_DS02433,BMG_DS003147,Thalamic Diseases,UMLS ID:C0039726,,,,,thalamic disorder,MONDO:0003081,Thalamic Diseases,MeSH ID:D013786,thalamic disease,DOID:4662,, +BMGC_DS02434,BMG_DS003148,Thalassemia,UMLS ID:C0039730,"Thalassemia | Thalassaemia | Thalassemia (disorder) | Hereditary leptocytosis | (Thalassaemia (& Mediterranean anaemia)) or (leptocytosis, hereditary) | Mediterranean anemia | Thalassemia | Mediterranean anaemia | Thalassaemia | Leptocytosis, hereditary | (Thalassemia (& Mediterranean anemia)) or (leptocytosis, hereditary) | (Thalassaemia (& Mediterranean anaemia)) or (leptocytosis, hereditary) (disorder) | Thalassemia | Thalassaemia | Thalassaemia (disorder) | Pyruvate kinase deficiency | (Thalassemia) or (pyruvate kinase deficiency) | (Thalassaemia) or (pyruvate kinase deficiency) | Thalassaemias | Thalassaemia | Thalassemia | Thalassemias | (Thalassaemia) or (pyruvate kinase deficiency) (disorder) | (Thalassaemia) or (pyruvate kinase deficiency) | Thalassemia | Thalassemias | Thalassaemia | Thalassaemias | Pyruvate kinase deficiency | (Thalassemia) or (pyruvate kinase deficiency) | (Thalassaemia) or (pyruvate kinase deficiency) (disorder)",SNOMEDCT ID:40108008 | SNOMEDCT ID:191182000 | SNOMEDCT ID:191192008 | SNOMEDCT ID:154796005 | SNOMEDCT ID:267557006,,,thalassemia,MONDO:0000984,Thalassemia,MeSH ID:D013789,thalassemia,DOID:10241,ICD10 ID:D56, +BMGC_DS02435,BMG_DS003149,Thanatophoric Dysplasia,UMLS ID:C0039743,,,,,thanatophoric dysplasia,MONDO:0017042,Thanatophoric Dysplasia,MeSH ID:D013796,thanatophoric dysplasia,DOID:13481,, +BMGC_DS02436,BMG_DS003151,Theileriasis,UMLS ID:C0039753,Infection by Theileria | Theileriosis | Theileriasis | Infection caused by Theileria (disorder) | Infection caused by Theileria,SNOMEDCT ID:68771000,,,theileriasis,MONDO:0005978,Theileriasis,MeSH ID:D013801,theileriasis,DOID:3733,, +BMGC_DS02437,BMG_DS003152,Thiamine Deficiency,UMLS ID:C0039841,,,,,,,Thiamine Deficiency,MeSH ID:D013832,,,, +BMGC_DS02438,BMG_DS003154,Thoracic Diseases,UMLS ID:C0039978,,,,,obsolete thoracic disorder,MONDO:0000651,Thoracic Diseases,MeSH ID:D013896,,,, +BMGC_DS02439,BMG_DS003155,,UMLS ID:C0039981,,,,,neoplasm of thorax,MONDO:0021350,,,thoracic cancer,DOID:5093,, +BMGC_DS02440,BMG_DS003156,Thoracic Outlet Syndrome,UMLS ID:C0039984,,,,,thoracic outlet syndrome,MONDO:0005979,Thoracic Outlet Syndrome,MeSH ID:D013901,thoracic outlet syndrome,DOID:3103,, +BMGC_DS02441,BMG_DS003157,Thrombasthenia,UMLS ID:C0040015,Hereditary thromboasthenia | Glanzmann thromboasthenia | Glanzmann-Naegeli disorder | Thrombasthenia | Glanzmann's thrombasthenia | Glanzmann's thrombasthenia (disorder) | Hereditary haemorrhagic thrombasthenia | Hereditary hemorrhagic thrombasthenia | Glanzmann's syndrome | Glanzmann's disease,SNOMEDCT ID:32942005,,,Glanzmann thrombasthenia | Glanzmann thrombasthenia 1,MONDO:0100326;MONDO:0031332,Thrombasthenia,MeSH ID:D013915,Glanzmann's thrombasthenia,DOID:2219,,OMIM ID:273800 +BMGC_DS02442,BMG_DS003158,Thromboangiitis Obliterans,UMLS ID:C0040021,,,,,thromboangiitis obliterans,MONDO:0008889,Thromboangiitis Obliterans,MeSH ID:D013919,thromboangiitis obliterans,DOID:12918,,OMIM ID:211480 +BMGC_DS02443,BMG_DS003159,"Thrombocythemia, Essential",UMLS ID:C0040028,,,,,essential thrombocythemia,MONDO:0005029,"Thrombocythemia, Essential",MeSH ID:D013920,essential thrombocythemia,DOID:2224,, +BMGC_DS02444,BMG_DS003160,Thrombocytopenia,UMLS ID:C0040034,Thrombocytopenia | Decreased platelet count | Thrombocytopenia (disorder) | Thrombocytopenia (& [auto-immune]) | Auto-immune thrombocytopenia | Thrombocytopenia | Thrombocytopenia (& [auto-immune]) (finding) | Platelet count below reference range (finding) | Platelet count below reference range | Thrombocytopenic disorder | Thrombocytopenic disorder (disorder) | Thrombocytopenia (& [auto-immune]) | Auto-immune thrombocytopenia | Thrombocytopenia | Thrombocytopenia (& [auto-immune]) (procedure),SNOMEDCT ID:70786006 | SNOMEDCT ID:142969008 | SNOMEDCT ID:415116008 | SNOMEDCT ID:302215000 | SNOMEDCT ID:165556002,,,thrombocytopenia,MONDO:0002049,Thrombocytopenia,MeSH ID:D013921,thrombocytopenia,DOID:1588,, +BMGC_DS02445,BMG_DS003161,,UMLS ID:C0040046,,,,,thrombophlebitis,MONDO:0002800,,,thrombophlebitis,DOID:3875,, +BMGC_DS02446,BMG_DS003162,,UMLS ID:C0040053,,,,,thrombotic disease,MONDO:0000831,,,,,, +BMGC_DS02447,BMG_DS003164,,UMLS ID:C0040100,,,,,thymoma,MONDO:0006456,,,thymoma,DOID:3275,, +BMGC_DS02448,BMG_DS003165,Thymus Hyperplasia,UMLS ID:C0040115,,,,,,,Thymus Hyperplasia,MeSH ID:D013952,,,, +BMGC_DS02449,BMG_DS003167,Thyroid Crisis,UMLS ID:C0040127,,,,,thyroid crisis,MONDO:0006996,Thyroid Crisis,MeSH ID:D013958,thyroid crisis,DOID:12837,, +BMGC_DS02450,BMG_DS003168,Thyroid Diseases,UMLS ID:C0040128,,,,,,,Thyroid Diseases,MeSH ID:D013959,thyroid gland disease,DOID:50,, +BMGC_DS02451,BMG_DS003169,,UMLS ID:C0040136,,,,,thyroid tumor,MONDO:0015074,,,thyroid cancer,DOID:1781,, +BMGC_DS02452,BMG_DS003170,Thyroiditis,UMLS ID:C0040147,Thyroiditis | Thyroiditis (disorder),SNOMEDCT ID:154664009 | SNOMEDCT ID:82119001,,,thyroiditis,MONDO:0004126,Thyroiditis,MeSH ID:D013966,thyroiditis,DOID:7166,ICD10 ID:E06,OMIM ID:MTHU036938 +BMGC_DS02453,BMG_DS003171,Subacute thyroiditis,UMLS ID:C0040149,Subacute thyroiditis | Pseudogranulomatous thyroiditis | Subacute thyroiditis (disorder) | Subacute thyroiditis (& [de Quervain's]) | De Quervain's thyroiditis | de Quervain's thyroiditis | De Quervain's disease | Subacute thyroiditis | Subacute thyroiditis (& [de Quervain's]) (disorder) | Subacute thyroiditis (& [de Quervain's]) | de Quervain's thyroiditis | De Quervain's disease | De Quervain's thyroiditis | Subacute thyroiditis | Subacute thyroiditis (& [de Quervain's]) (disorder),SNOMEDCT ID:38727009 | SNOMEDCT ID:190296009 | SNOMEDCT ID:154666006,Subacute thyroiditis,ICD11 ID:5A03.1,subacute thyroiditis,MONDO:0006982,,,subacute thyroiditis,DOID:7165,ICD10 ID:E06.1, +BMGC_DS02454,BMG_DS003172,"Thyroiditis, Suppurative",UMLS ID:C0040150,,,,,suppurative thyroiditis,MONDO:0001947,"Thyroiditis, Suppurative",MeSH ID:D013969,suppurative thyroiditis,DOID:14350,, +BMGC_DS02455,BMG_DS003173,Thyrotoxicosis,UMLS ID:C0040156,"Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | Hyperthyroidism | Graves' disease | Nodule - thyroid, toxic | Graves disease | Thyrotoxicosis | Toxic thyroid nodule | Toxic goitre | Thyrotoxicosis +/- goitre | Goitre - toxic | Goiter - toxic | Thyrotoxicosis +/- goiter | Toxic goiter | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder) | Toxic goiter | Toxic goitre | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goiter) | Hyperthyroidism | Thyrotoxicosis | ([Thyrotoxicosis] or [hyperthyroidism]) or (toxic goitre) (disorder) | Thyrotoxicosis | Thyrotoxicosis (disorder) | Goiter - toxic | Thyrotoxicosis +/- goiter | Toxic goiter | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] | Toxic goitre | Goitre - toxic | Thyrotoxicosis +/- goitre | Toxic thyroid nodule | Thyrotoxicosis | Hyperthyroidism | Graves' disease | Nodule - thyroid, toxic | Graves disease | Thyrotoxicosis: [+/- goiter] or [toxic goiter] or [Graves disease] or [thyroid nodule] | Thyrotoxicosis: [+/- goitre] or [toxic goitre] or [Graves disease] or [thyroid nodule] (disorder)",SNOMEDCT ID:154655004 | SNOMEDCT ID:190239004 | SNOMEDCT ID:267373004 | SNOMEDCT ID:90739004 | SNOMEDCT ID:267464006,,,thyrotoxicosis,MONDO:0010138,Thyrotoxicosis,MeSH ID:D013971,thyrotoxicosis,DOID:7997,, +BMGC_DS02456,BMG_DS003174,,UMLS ID:C0040188,,,,,,,,,tic disorder,DOID:2769,, +BMGC_DS02457,BMG_DS003175,Tick Infestations,UMLS ID:C0040196,,,,,tick infestation,MONDO:0005980,Tick Infestations,MeSH ID:D013984,tick infestation,DOID:4109,, +BMGC_DS02458,BMG_DS003176,Tick Paralysis,UMLS ID:C0040197,,,,,tick paralysis,MONDO:0005981,Tick Paralysis,MeSH ID:D013985,tick paralysis,DOID:11285,, +BMGC_DS02459,BMG_DS003179,Tietze's Syndrome,UMLS ID:C0040213,,,,,Tietze syndrome,MONDO:0001858,Tietze's Syndrome,MeSH ID:D013991,Tietze's syndrome,DOID:14021,, +BMGC_DS02460,BMG_DS003180,Tinea,UMLS ID:C0040247,(Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | Fungal infection | Dermatophytosis | Tinea | Fungal infections | Mycoses | Ringworm | Dermatophytosis-tinea/ringworm | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder) | Dermatophytosis | Tinea | Ringworm | Microsporic tinea | Dermatophytosis (disorder) | (Dermatophytosis &/or tinea &/or ringworm) or (skin fungal infection) | Fungal infection of skin | Ringworm | Tinea | Dermatophytosis including tinea or ringworm | (Dermatophytosis &/or tinea &/or ringworm) or (skin fungal infection) (disorder) | Ringworm | Mycoses | Dermatophytosis-tinea/ringworm | Tinea | Fungal infection | Dermatophytosis | Fungal infections | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) | (Dermatophytosis &/or tinea &/or ringworm) or (fungal infections) or (mycoses) (disorder),SNOMEDCT ID:154394006 | SNOMEDCT ID:47382004 | SNOMEDCT ID:186984003 | SNOMEDCT ID:266214005,,,tinea infection,MONDO:0005982,Tinea,MeSH ID:D014005,,,, +BMGC_DS02461,BMG_DS003181,White Piedra,UMLS ID:C0040249,,,,,white piedra,MONDO:0001827,Piedra,MeSH ID:D010854,white piedra,DOID:13902,, +BMGC_DS02462,BMG_DS003182,Tinea Capitis,UMLS ID:C0040250,,,,,,,Tinea Capitis,MeSH ID:D014006,,,, +BMGC_DS02463,BMG_DS003183,Tinea corporis (disorder),UMLS ID:C0040252,Tinea corporis | Tinea circinata | Herpes circinatus | Body tinea | Tinea corporis (disorder) | Dermatophytosis of the trunk | Tinea circinatus,SNOMEDCT ID:84849002,,,tinea corporis,MONDO:0001461,,,,,, +BMGC_DS02464,BMG_DS003185,Tinea Favosa,UMLS ID:C0040254,,,,,tinea favosa,MONDO:0005983,Tinea Favosa,MeSH ID:D014007,tinea favosa,DOID:4336,, +BMGC_DS02465,BMG_DS003187,Tinea Pedis,UMLS ID:C0040259,,,,,tinea pedis,MONDO:0005984,Tinea Pedis,MeSH ID:D014008,tinea pedis,DOID:12403,, +BMGC_DS02466,BMG_DS003188,Onychomycosis,UMLS ID:C0040261,Dermatophytosis of nail | Tinea unguium | Dermatophytosis of nail (disorder) | Onychomycosis | Tinea of nail | Fungal infection of nail | OM - Onychomycosis | Tinea unguium | Onychomycosis | Dermatophytic onychia | Tinea of nail | Fungal infection of nail | Tinea unguium (disorder) | Onychomycosis (& [tinea of nail]) | Tinea of nail - onychomycosis | Onychomycosis | Onychomycosis (& [tinea of nail]) (disorder) | Onychomycosis (& [tinea of nail]) | Onychomycosis | Tinea of nail - onychomycosis | Onychomycosis (& [tinea of nail]) (disorder) | Onychomycosis (disorder) | Onychomycosis | Fungal infection of nail | Ringworm of nail | (Nail: [dermatophytosis] or [fungal infection]) or (onychomycosis) or (tinea unguium) | Fungal nail infection | Fungal infection of nail | Dermatophytosis of nail | Onychomycosis | Tinea unguium | (Nail: [dermatophytosis] or [fungal infection]) or (onychomycosis) or (tinea unguium) (disorder),SNOMEDCT ID:266149008 | SNOMEDCT ID:30757001 | SNOMEDCT ID:154397004 | SNOMEDCT ID:266215006 | SNOMEDCT ID:414941008 | SNOMEDCT ID:186988000,Dermatophytosis of nail,ICD11 ID:1F28.1,tinea unguium,MONDO:0001628,Onychomycosis,MeSH ID:D014009,,,ICD10 ID:B35.1,OMIM ID:MTHU041767 +BMGC_DS02467,BMG_DS003189,Tinea Versicolor,UMLS ID:C0040262,,,,,pityriasis versicolor,MONDO:0005915,Tinea Versicolor,MeSH ID:D014010,pityriasis versicolor,DOID:9060,, +BMGC_DS02468,BMG_DS003190,Tinnitus,UMLS ID:C0040264,Tinnitus | Tinnitus (disorder) | (Tinnitus) or (hearing noises) | Tinnitus | Hearing noises | (Tinnitus) or (hearing noises) (disorder) | Tinnitus | Noise in ears | Tinnitus (finding) | Ringing in ears,SNOMEDCT ID:155248003 | SNOMEDCT ID:194392000 | SNOMEDCT ID:60862001,Tinnitus,ICD11 ID:MC41,,,Tinnitus,MeSH ID:D014012,,,ICD10 ID:H93.1,OMIM ID:MTHU003968 +BMGC_DS02469,BMG_DS003192,Tolosa-Hunt Syndrome,UMLS ID:C0040381,,,,,Tolosa-Hunt syndrome,MONDO:0018983,Tolosa-Hunt Syndrome,MeSH ID:D020333,tolosa-hunt syndrome,DOID:1278,, +BMGC_DS02470,BMG_DS003193,Tongue Diseases,UMLS ID:C0040409,,,,,tongue disorder,MONDO:0001165,Tongue Diseases,MeSH ID:D014060,tongue disease,DOID:10944,, +BMGC_DS02471,BMG_DS003194,,UMLS ID:C0040411,,,,,tongue neoplasm,MONDO:0021240,,,,,, +BMGC_DS02472,BMG_DS003195,,UMLS ID:C0040412,,,,,,,,,fissured tongue,DOID:11514,, +BMGC_DS02473,BMG_DS003196,Hairy tongue,UMLS ID:C0040414,Black hairy tongue | Lingua villosa nigra | Melanoglossia | Black tongue | Hairy tongue | Black hairy tongue (disorder),SNOMEDCT ID:81934005,,,hairy tongue,MONDO:0006777,,,hairy tongue,DOID:13500,, +BMGC_DS02474,BMG_DS003198,Tonsillitis,UMLS ID:C0040425,Tonsillitis | Tonsillitis (disorder) | Tonsillitis (& acute) | Acute tonsillitis | Throat infection - tonsillitis | Tonsillitis | Tonsillitis (& acute) (disorder),SNOMEDCT ID:90176007 | SNOMEDCT ID:195665006,,,,,Tonsillitis,MeSH ID:D014069,tonsillitis,DOID:10456,,OMIM ID:MTHU071368 +BMGC_DS02475,BMG_DS003199,Tooth Diseases,UMLS ID:C0040435,,,,,tooth disorder,MONDO:0006999,Tooth Diseases,MeSH ID:D014076,tooth disease,DOID:1091,, +BMGC_DS02476,BMG_DS003200,Tooth Erosion,UMLS ID:C0040436,,,,,"tooth erosion, non-bacterial",MONDO:0002325,Tooth Erosion,MeSH ID:D014077,tooth erosion,DOID:2498,, +BMGC_DS02477,BMG_DS003202,Tooth Resorption,UMLS ID:C0040451,,,,,tooth resorption,MONDO:0001670,Tooth Resorption,MeSH ID:D014091,tooth resorption,DOID:13240,, +BMGC_DS02478,BMG_DS003204,,UMLS ID:C0040457,,,,,"teeth, supernumerary",MONDO:0008533,,,,,,OMIM ID:187100 +BMGC_DS02479,BMG_DS003205,Torsades de Pointes,UMLS ID:C0040479,,,,,torsades de pointes,MONDO:0005478,Torsades de Pointes,MeSH ID:D016171,,,, +BMGC_DS02480,BMG_DS003206,,UMLS ID:C0040485,,,,,inherited torticollis,MONDO:0008583,,,,,,OMIM ID:189600 +BMGC_DS02481,BMG_DS003207,Gilles de la Tourette syndrome,UMLS ID:C0040517,Gilles de la Tourette syndrome | Gilles de la Tourette syndrome (disorder) | Gilles de la Tourette syndrome | Gilles de la Tourette's syndr. | Psychogenic tics | (Psychogenic tics) or (Gilles de la Tourette's syndrome) | (Psychogenic tics) or (Gilles de la Tourette's syndrome) (disorder) | Gilles de la Tourette's syndrome | Tourette's syndrome | Tourette's disorder | Combined vocal and multiple motor tic disorder | Gilles de la Tourette's syndrome (disorder) | Gilles de la Tourette syndrome | Gilles de la Tourettes syndrome,SNOMEDCT ID:192624004 | SNOMEDCT ID:268778009 | SNOMEDCT ID:5158005,,,Tourette syndrome,MONDO:0007661,,,Gilles de la Tourette syndrome,DOID:11119,,OMIM ID:MTHU067724 | OMIM ID:137580 +BMGC_DS02482,BMG_DS003208,Toxascariasis,UMLS ID:C0040522,,,,,toxascariasis,MONDO:0005987,Toxascariasis,MeSH ID:D017227,toxascariasis,DOID:3107,, +BMGC_DS02483,BMG_DS003209,Toxocariasis,UMLS ID:C0040553,Infection by Toxascaris | Toxascariosis | Toxocariasis | Infection by Toxascaris (disorder) | Toxocara infection | Toxocariasis | Infection caused by Toxocara (disorder) | Infection caused by Toxocara | Toxocariasis | Toxocarosis | Toxocariasis (disorder),SNOMEDCT ID:76695000 | SNOMEDCT ID:406619001 | SNOMEDCT ID:38995001,Toxocariasis,ICD11 ID:1F6D,toxocariasis,MONDO:0005988,Toxocariasis,MeSH ID:D014120,,,ICD10 ID:B83.0, +BMGC_DS02484,BMG_DS003210,Toxoplasmosis,UMLS ID:C0040558,(Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | Myiasis | Toxoplasmosis | Other infectious and parasitic diseases | Maggot infestation | Leech infestation | Other infect. and parasit.dis. | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Maggot infestation | Myiasis | Toxoplasmosis | Leech infestation | Other infectious and parasitic diseases | Other infect. and parasit.dis. | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) | (Other infectious & parasitic disease) or (infestation: [leech] or [maggot]) or (myiasis) or (toxoplasmosis) (disorder) | Toxoplasmosis | Toxoplasmosis (disorder) | Infection by Toxoplasma gondii | Infection by Toxoplasma gondii | Infection by Toxoplasma gondii (disorder),SNOMEDCT ID:266225001 | SNOMEDCT ID:154423006 | SNOMEDCT ID:187192000 | SNOMEDCT ID:9399000,,,toxoplasmosis,MONDO:0005989,Toxoplasmosis,MeSH ID:D014123,toxoplasmosis,DOID:9965,ICD10 ID:B58, +BMGC_DS02485,BMG_DS003212,"Toxoplasmosis, Congenital",UMLS ID:C0040560,,,,,congenital toxoplasmosis,MONDO:0005715,"Toxoplasmosis, Congenital",MeSH ID:D014125,congenital toxoplasmosis,DOID:13336,, +BMGC_DS02486,BMG_DS003215,Tracheal Diseases,UMLS ID:C0040580,,,,,,,Tracheal Diseases,MeSH ID:D014133,tracheal disease,DOID:3225,, +BMGC_DS02487,BMG_DS003217,Tracheal Stenosis,UMLS ID:C0040583,,,,,tracheal stenosis,MONDO:0002568,Tracheal Stenosis,MeSH ID:D014135,tracheal stenosis,DOID:3227,, +BMGC_DS02488,BMG_DS003218,Tracheitis,UMLS ID:C0040584,Tracheitis | Tracheitis (disorder),SNOMEDCT ID:62994001,,,tracheitis,MONDO:0005990,Tracheitis,MeSH ID:D014136,tracheitis,DOID:9392,, +BMGC_DS02489,BMG_DS003220,Tracheobronchomegaly,UMLS ID:C0040587,Congenital tracheobronchomegaly | Mounier-Kuhn syndrome | Tracheobronchomegaly | Congenital tracheobronchomegaly (disorder),SNOMEDCT ID:57451009,,,Mounier-Kuhn syndrome,MONDO:0010148,Tracheobronchomegaly,MeSH ID:D014137,,,,OMIM ID:275300 +BMGC_DS02490,BMG_DS003221,,UMLS ID:C0040588,,,,,esophageal atresia/tracheoesophageal fistula,MONDO:0008586,,,,,,OMIM ID:189960 +BMGC_DS02491,BMG_DS003222,Trachoma,UMLS ID:C0040592,(AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) | AIDS with viral/chlamydial disease NOS | Ornithosis | Aids +viral/chlamydial dis.NOS | Trachoma | (AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) (disorder) | Trachoma | Trachoma (disorder) | (AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) | Trachoma | AIDS with viral/chlamydial disease NOS | Ornithosis | Aids +viral/chlamydial dis.NOS | (AIDS with viral/chlamydial dis NOS) or (ornithosis) or (trachoma) (disorder),SNOMEDCT ID:266200005 | SNOMEDCT ID:2576002 | SNOMEDCT ID:154367007,,,trachoma,MONDO:0001249,Trachoma,MeSH ID:D014141,trachoma,DOID:11265,ICD10 ID:A71, +BMGC_DS02492,BMG_DS003224,,UMLS ID:C0040701,,,,,,,,,adjustment disorder,DOID:507,, +BMGC_DS02493,BMG_DS003225,,UMLS ID:C0040702,,,,,transient tic disorder,MONDO:0002419,,,transient tic disorder,DOID:2768,, +BMGC_DS02494,BMG_DS003226,,UMLS ID:C0040761,,,,,transposition of the great arteries,MONDO:0000153,,,,,, +BMGC_DS02495,BMG_DS003227,,UMLS ID:C0040774,,,,,,,,,transvestism,DOID:1233,, +BMGC_DS02496,BMG_DS003230,Trench Fever,UMLS ID:C0040830,,,,,trench fever,MONDO:0005991,Trench Fever,MeSH ID:D014205,trench fever,DOID:11101,, +BMGC_DS02497,BMG_DS003233,Trichinellosis,UMLS ID:C0040896,Infection by larvae of Trichinella spiralis | Trichinosis caused by Trichinella spiralis | Trichinellosis caused by Trichinella spiralis | Trichinelliasis caused by Trichinella spiralis | Trichiniasis caused by Trichinella spiralis | Infection caused by larvae of Trichinella spiralis (disorder) | Infection caused by larvae of Trichinella spiralis | Trichinellosis | Infection by larvae of Trichinella | Trichiniasis | Trichinosis | Trichinelliasis | Infection caused by larvae of Trichinella | Infection caused by larvae of Trichinella (disorder),SNOMEDCT ID:88264003 | SNOMEDCT ID:709018004,,,trichinellosis,MONDO:0019444,Trichinellosis,MeSH ID:D014235,trichinosis,DOID:9784,ICD10 ID:B75, +BMGC_DS02498,BMG_DS003234,Trichomonas Infections,UMLS ID:C0040921,,,,,trichomoniasis,MONDO:0002154,Trichomonas Infections,MeSH ID:D014245,trichomoniasis,DOID:1947,, +BMGC_DS02499,BMG_DS003235,Trichomonas Vaginitis,UMLS ID:C0040923,,,,,Trichomonas vaginitis urogenital infection,MONDO:0005993,Trichomonas Vaginitis,MeSH ID:D014247,Trichomonas vaginalis trichomoniasis,DOID:0050269,, +BMGC_DS02500,BMG_DS003239,Trichophytosis,UMLS ID:C0040938,Trichophytosis | Trichophytosis (disorder),SNOMEDCT ID:123817002,,,,,Tinea,MeSH ID:D014005,,,, +BMGC_DS02501,BMG_DS003240,Trichostrongyloidiasis,UMLS ID:C0040947,,,,,trichostrongyloidiasis,MONDO:0005994,Trichostrongyloidiasis,MeSH ID:D014252,trichostrongyloidiasis,DOID:1255,, +BMGC_DS02502,BMG_DS003241,Trichostrongylosis,UMLS ID:C0040948,Trichostrongyliasis | Trichostrongylosis | Trichostrongyliasis (disorder) | Infection by Trichostrongylus,SNOMEDCT ID:33710003,,,trichostrongylosis,MONDO:0005995,Trichostrongylosis,MeSH ID:D014253,trichostrongylosis,DOID:1254,, +BMGC_DS02503,BMG_DS003242,,UMLS ID:C0040953,,,,,trichotillomania,MONDO:0013189,,,,,,OMIM ID:613229 +BMGC_DS02504,BMG_DS003243,Infection by Trichuris trichiura,UMLS ID:C0040954,Infection by Trichuris trichiura | Infection by Trichocephalus trichiura | Infection caused by Trichuris trichiura | Infection caused by Trichocephalus trichiura | Infection caused by Trichuris trichiura (disorder),SNOMEDCT ID:60570001,,,,,,,trichuriasis,DOID:1252,, +BMGC_DS02505,BMG_DS003244,Tricuspid Valve Insufficiency,UMLS ID:C0040961,,,,,tricuspid valve insufficiency,MONDO:0002870,Tricuspid Valve Insufficiency,MeSH ID:D014262,tricuspid valve insufficiency,DOID:4080,, +BMGC_DS02506,BMG_DS003245,Tricuspid Valve Prolapse,UMLS ID:C0040962,,,,,tricuspid valve prolapse,MONDO:0007001,Tricuspid Valve Prolapse,MeSH ID:D014263,tricuspid valve prolapse,DOID:5644,, +BMGC_DS02507,BMG_DS003246,Tricuspid Valve Stenosis,UMLS ID:C0040963,,,,,tricuspid valve stenosis,MONDO:0005997,Tricuspid Valve Stenosis,MeSH ID:D014264,tricuspid valve stenosis,DOID:4078,, +BMGC_DS02508,BMG_DS003247,Trigeminal Neuralgia,UMLS ID:C0040997,,,,,trigeminal neuralgia,MONDO:0008599,Trigeminal Neuralgia,MeSH ID:D014277,trigeminal neuralgia,DOID:12098,,OMIM ID:190400 +BMGC_DS02509,BMG_DS003248,Trismus,UMLS ID:C0041105,Trismus | [D] Trismus | Trismus (disorder) | Trismus | Trismus (finding),SNOMEDCT ID:235108006 | SNOMEDCT ID:163644005 | SNOMEDCT ID:87866006 | SNOMEDCT ID:206809007,,,,,Trismus,MeSH ID:D014313,,,,OMIM ID:MTHU001188 +BMGC_DS02510,BMG_DS003250,Trombiculiasis,UMLS ID:C0041170,,,,,trombiculiasis,MONDO:0005998,Trombiculiasis,MeSH ID:D014323,trombiculiasis,DOID:8399,, +BMGC_DS02511,BMG_DS003251,,UMLS ID:C0041182,,,,,trophoblastic neoplasm,MONDO:0002872,,,trophoblastic neoplasm,DOID:4085,, +BMGC_DS02512,BMG_DS003252,Tropical pyomyositis,UMLS ID:C0041188,Tropical pyomyositis | Tropical myositis | Pyomyositis | Tropical pyomyositis (disorder) | Tropical pyomyositis | Tropical pyomyositis (disorder),SNOMEDCT ID:65110003 | SNOMEDCT ID:186430009,Infectious myositis,ICD11 ID:FB30,pyomyositis,MONDO:0019168,,,pyomyositis,DOID:876,ICD10 ID:M60.0, +BMGC_DS02513,BMG_DS003253,,UMLS ID:C0041207,,,,,persistent truncus arteriosus,MONDO:0018072,,,,,, +BMGC_DS02514,BMG_DS003254,Trypanosomiasis,UMLS ID:C0041227,Trypanosomiasis | Rickettsioses etc. | Rocky Mountain spotted fever | Q fever | Typhus | Rickettsioses etc | (Rickettsioses [& named variants]) or (trypanosomiasis) | (Rickettsioses [& named variants]) or (trypanosomiasis) (disorder) | (Rickettsioses [& named variants]) or (trypanosomiasis) | Q fever | Rickettsioses etc. | Rickettsioses etc | Trypanosomiasis | Rocky Mountain spotted fever | Typhus | (Rickettsioses [& named variants]) or (trypanosomiasis) (disorder) | Trypanosomiasis | Trypanosomosis | Trypanosomiasis (disorder),SNOMEDCT ID:266205000 | SNOMEDCT ID:154375001 | SNOMEDCT ID:78940002,,,trypanosomiasis,MONDO:0000940,Trypanosomiasis,MeSH ID:D014352,trypanosomiasis,DOID:10113,, +BMGC_DS02515,BMG_DS003255,African Trypanosomiasis,UMLS ID:C0041228,,,,,human African trypanosomiasis,MONDO:0005459,"Trypanosomiasis, African",MeSH ID:D014353,sleeping sickness,DOID:10112,, +BMGC_DS02516,BMG_DS003259,Chagas Disease,UMLS ID:C0041234,,,,,Chagas disease,MONDO:0001444,Chagas Disease,MeSH ID:D014355,Chagas disease,DOID:12140,, +BMGC_DS02517,BMG_DS003261,Tuberculoma,UMLS ID:C0041295,Tuberculoma | Tuberculoma (disorder),SNOMEDCT ID:15202009,,,tuberculoma,MONDO:0021943,Tuberculoma,MeSH ID:D014375,tuberculosis,DOID:399,, +BMGC_DS02518,BMG_DS003262,Tuberculosis,UMLS ID:C0041296,Tuberculosis | TB - Tuberculosis | Tuberculosis (disorder) | Tuberculosis | Tuberculosis (disorder),SNOMEDCT ID:56717001 | SNOMEDCT ID:154281007 | SNOMEDCT ID:187285000,,,tuberculosis,MONDO:0018076,Tuberculosis,MeSH ID:D014376,,,, +BMGC_DS02519,BMG_DS003265,"Tuberculosis, Bovine",UMLS ID:C0041307,,,,,"tuberculosis, bovine",MONDO:0025136,"Tuberculosis, Bovine",MeSH ID:D014380,,,, +BMGC_DS02520,BMG_DS003266,"Tuberculosis, Cardiovascular",UMLS ID:C0041308,,,,,,,"Tuberculosis, Cardiovascular",MeSH ID:D014381,cardiac tuberculosis,DOID:0060570,, +BMGC_DS02521,BMG_DS003267,"Tuberculosis, Cutaneous",UMLS ID:C0041309,,,,,cutaneous tuberculosis,MONDO:0021948,"Tuberculosis, Cutaneous",MeSH ID:D014382,,,, +BMGC_DS02522,BMG_DS003270,"Tuberculosis, Gastrointestinal",UMLS ID:C0041312,,,,,gastrointestinal tuberculosis,MONDO:0005768,"Tuberculosis, Gastrointestinal",MeSH ID:D014385,gastrointestinal tuberculosis,DOID:404,, +BMGC_DS02523,BMG_DS003271,"Tuberculosis, Hepatic",UMLS ID:C0041313,,,,,hepatic tuberculosis,MONDO:0005787,"Tuberculosis, Hepatic",MeSH ID:D014386,hepatic tuberculosis,DOID:407,, +BMGC_DS02524,BMG_DS003272,"Tuberculosis, Laryngeal",UMLS ID:C0041315,,,,,laryngeal tuberculosis,MONDO:0005819,"Tuberculosis, Laryngeal",MeSH ID:D014387,laryngeal tuberculosis,DOID:1583,, +BMGC_DS02525,BMG_DS003275,"Tuberculosis, Meningeal",UMLS ID:C0041318,,,,,meningeal tuberculosis,MONDO:0006042,"Tuberculosis, Meningeal",MeSH ID:D014390,,,, +BMGC_DS02526,BMG_DS003276,"Tuberculosis, Miliary",UMLS ID:C0041321,,,,,miliary tuberculosis,MONDO:0005848,"Tuberculosis, Miliary",MeSH ID:D014391,miliary tuberculosis,DOID:9861,, +BMGC_DS02527,BMG_DS003277,"Tuberculosis, Ocular",UMLS ID:C0041322,,,,,ocular tuberculosis,MONDO:0006876,"Tuberculosis, Ocular",MeSH ID:D014392,,,, +BMGC_DS02528,BMG_DS003278,"Tuberculosis, Oral",UMLS ID:C0041323,,,,,oral tuberculosis,MONDO:0005887,"Tuberculosis, Oral",MeSH ID:D014393,oral tuberculosis,DOID:402,, +BMGC_DS02529,BMG_DS003280,"Peritonitis, Tuberculous",UMLS ID:C0041325,,,,,tuberculous peritonitis,MONDO:0006000,"Peritonitis, Tuberculous",MeSH ID:D014395,tuberculous peritonitis,DOID:9801,, +BMGC_DS02530,BMG_DS003281,Pleural Tuberculosis,UMLS ID:C0041326,,,,,pleural tuberculosis,MONDO:0005922,"Tuberculosis, Pleural",MeSH ID:D014396,pleural tuberculosis,DOID:106,, +BMGC_DS02531,BMG_DS003282,"Tuberculosis, Pulmonary",UMLS ID:C0041327,,,,,pulmonary tuberculosis,MONDO:0006052,"Tuberculosis, Pulmonary",MeSH ID:D014397,pulmonary tuberculosis,DOID:2957,, +BMGC_DS02532,BMG_DS003283,"Tuberculosis, Renal",UMLS ID:C0041328,,,,,renal tuberculosis,MONDO:0005938,"Tuberculosis, Renal",MeSH ID:D014398,renal tuberculosis,DOID:9733,, +BMGC_DS02533,BMG_DS003284,"Tuberculosis, Spinal",UMLS ID:C0041330,,,,,"tuberculosis, spinal",MONDO:0043836,"Tuberculosis, Spinal",MeSH ID:D014399,,,, +BMGC_DS02534,BMG_DS003287,"Tuberculosis, Urogenital",UMLS ID:C0041333,,,,,urogenital tuberculosis,MONDO:0006002,"Tuberculosis, Urogenital",MeSH ID:D014401,urogenital tuberculosis,DOID:2149,, +BMGC_DS02535,BMG_DS003289,,UMLS ID:C0041341,,,,,tuberous sclerosis,MONDO:0001734,,,tuberous sclerosis,DOID:13515,, +BMGC_DS02536,BMG_DS003290,Tubo-ovarian abscess,UMLS ID:C0041343,Tubo-ovarian abscess | Tubo-ovarian abscess (disorder) | Tubo ovarian abscess,SNOMEDCT ID:58949002,,,,,,,,,, +BMGC_DS02537,BMG_DS003291,"Nephritis, Tubulointerstitial",UMLS ID:C0041349,,,,,interstitial nephritis,MONDO:0001085,"Nephritis, Interstitial",MeSH ID:D009395,,,, +BMGC_DS02538,BMG_DS003292,Tularemia,UMLS ID:C0041351,Tularemia | Infection by Francisella tularensis | Deer fly fever | Rabbit fever | Ohara's disease | Yatobyo | Pahvant Valley fever | Pahvant Valley plague | Tularaemia | Tularemia (disorder) | Deerfly fever | Francis' disease | O'Hara's disease,SNOMEDCT ID:19265001,,,tularemia,MONDO:0018077,Tularemia,MeSH ID:D014406,,,ICD10 ID:A21, +BMGC_DS02539,BMG_DS003293,Tumor Lysis Syndrome,UMLS ID:C0041364,,,,,tumor lysis syndrome,MONDO:0043875,Tumor Lysis Syndrome,MeSH ID:D015275,,,, +BMGC_DS02540,BMG_DS003294,Turner Syndrome,UMLS ID:C0041408,,,,,Turner syndrome,MONDO:0019499,Turner Syndrome,MeSH ID:D014424,Turner syndrome,DOID:3491,, +BMGC_DS02541,BMG_DS003295,"Turner Syndrome, Male",UMLS ID:C0041409,,,,,,,Noonan Syndrome,MeSH ID:D009634,,,, +BMGC_DS02542,BMG_DS003297,Typhoid Fever,UMLS ID:C0041466,,,,,typhoid fever,MONDO:0005619,Typhoid Fever,MeSH ID:D014435,typhoid fever,DOID:13258,, +BMGC_DS02543,BMG_DS003298,,UMLS ID:C0041471,,,,,typhus,MONDO:0001246,,,typhus,DOID:11256,, +BMGC_DS02544,BMG_DS003299,Endemic Flea-Borne Typhus,UMLS ID:C0041472,,,,,endemic typhus,MONDO:0000330,"Typhus, Endemic Flea-Borne",MeSH ID:D014437,typhus,DOID:11256,, +BMGC_DS02545,BMG_DS003300,"Typhus, Epidemic Louse-Borne",UMLS ID:C0041473,,,,,epidemic louse-borne typhus,MONDO:0019362,"Typhus, Epidemic Louse-Borne",MeSH ID:D014438,typhus,DOID:11256,, +BMGC_DS02546,BMG_DS003301,,UMLS ID:C0041582,,,,,ulcer disease,MONDO:0043839,,,,,, +BMGC_DS02547,BMG_DS003304,Infection by Uncinaria,UMLS ID:C0041648,Infection by Uncinaria | Uncinariasis | Uncinariosis | Infection caused by Uncinaria | Infection caused by Uncinaria (disorder) | Infection by Uncinaria | Uncinariasis | Uncinariosis | Ancylostomiasis | Ancylostomiasis due to Ancylostoma duodenale | Ancylostomosis | Hookworm infection | Infection by Uncinaria (disorder),SNOMEDCT ID:414490001 | SNOMEDCT ID:85807000,,,,,,,,,, +BMGC_DS02548,BMG_DS003305,,UMLS ID:C0041671,,,,,,,,,attention deficit hyperactivity disorder,DOID:1094,, +BMGC_DS02549,BMG_DS003306,,UMLS ID:C0041696,,,,,,,,,melancholic depression,DOID:1595,, +BMGC_DS02550,BMG_DS003309,,UMLS ID:C0041806,,,,,,,,,immune system disease,DOID:2914,, +BMGC_DS02551,BMG_DS003310,Disorder of tympanic membrane,UMLS ID:C0041825,Disorder of tympanic membrane | Disorder of tympanic membrane (disorder) | TM - Tympanic membrane disorder | Tympanic membrane disorder,SNOMEDCT ID:21426000,,,tympanic membrane disorder,MONDO:0003648,,,tympanic membrane disease,DOID:5782,, +BMGC_DS02552,BMG_DS003311,Erythema,UMLS ID:C0041834,Erythema | Erythema (finding) | Erythema - observation | Erythema | Erythema (morphologic abnormality),SNOMEDCT ID:247441003 | SNOMEDCT ID:70819003,,,,,Erythema,MeSH ID:D004890,,,,OMIM ID:MTHU015896 +BMGC_DS02553,BMG_DS003312,,UMLS ID:C0041844,,,,,,,,,internal hemorrhoid,DOID:9749,, +BMGC_DS02554,BMG_DS003313,,UMLS ID:C0041857,,,,,,,,,dissociative disorder,DOID:10935,, +BMGC_DS02555,BMG_DS003314,,UMLS ID:C0041881,,,,,,,,,toxic pneumonitis,DOID:551,, +BMGC_DS02556,BMG_DS003315,Upper Respiratory Infections,UMLS ID:C0041912,,,,,respiratory tract infectious disorder,MONDO:0024355,Respiratory Tract Infections,MeSH ID:D012141,,,, +BMGC_DS02557,BMG_DS003316,,UMLS ID:C0041915,,,,,urachal cyst,MONDO:0018844,,,,,, +BMGC_DS02558,BMG_DS003317,Uremia,UMLS ID:C0041948,Uremia | Uraemia | Uremia (disorder),SNOMEDCT ID:44730006,,,uremia,MONDO:0007008,Uremia,MeSH ID:D014511,uremia,DOID:4676,,OMIM ID:MTHU008842 +BMGC_DS02559,BMG_DS003318,Ureterolithiasis,UMLS ID:C0041952,Ureterolithiasis | Ureterolithiasis (disorder) | Ureteric stone | Ureteral calculus | Ureteral stone | Ureteric calculus | Ureterolithiasis | Calculus of ureter | Ureteric stone (disorder),SNOMEDCT ID:95573009 | SNOMEDCT ID:31054009,,,ureterolithiasis,MONDO:0007009,Ureterolithiasis,MeSH ID:D053039,ureterolithiasis,DOID:14146,, +BMGC_DS02560,BMG_DS003319,,UMLS ID:C0041955,,,,,ureter neoplasm,MONDO:0021111,,,ureteral benign neoplasm,DOID:11885,, +BMGC_DS02561,BMG_DS003322,,UMLS ID:C0041960,,,,,ureterocele,MONDO:0008628,,,ureterocele,DOID:4022,,OMIM ID:191650 +BMGC_DS02562,BMG_DS003323,Urethral Diseases,UMLS ID:C0041969,,,,,urethral disorder,MONDO:0004184,Urethral Diseases,MeSH ID:D014522,urethral disease,DOID:732,, +BMGC_DS02563,BMG_DS003324,,UMLS ID:C0041971,,,,,urethra neoplasm,MONDO:0021239,,,urethral benign neoplasm,DOID:730,, +BMGC_DS02564,BMG_DS003325,Urethral Obstruction,UMLS ID:C0041972,,,,,urethral obstruction,MONDO:0001556,Urethral Obstruction,MeSH ID:D014524,urethral obstruction,DOID:12577,, +BMGC_DS02565,BMG_DS003326,Urethral Stenosis,UMLS ID:C0041974,,,,,,,Urethral Stricture,MeSH ID:D014525,,,, +BMGC_DS02566,BMG_DS003327,Urethritis,UMLS ID:C0041976,Urethritis | Urethritis (disorder) | Inflammation of urethra,SNOMEDCT ID:31822004,,,urethritis,MONDO:0005297,Urethritis,MeSH ID:D014526,urethritis,DOID:1343,, +BMGC_DS02567,BMG_DS003328,Urinary Stress Incontinence,UMLS ID:C0042025,,,,,,,"Urinary Incontinence, Stress",MeSH ID:D014550,,,, +BMGC_DS02568,BMG_DS003329,Urinary tract infection,UMLS ID:C0042029,Urinary tract infection (& [NOS]) | Urinary tract infection NOS | Infection of urinary tract | Urinary tract infection | Urinary infection NOS | Urinary tract infection (& [NOS]) (disorder) | Urinary tract infection NOS | Urinary tract infection | Urinary infection NOS | Infection of urinary tract | Urinary tract infection (& [NOS]) | Urinary tract infection (& [NOS]) (disorder) | Urinary tract infectious disease | Urinary tract infection | Urinary tract infectious disease (disorder) | UTI - Urinary tract infection,SNOMEDCT ID:266635000 | SNOMEDCT ID:155897002 | SNOMEDCT ID:68566005,,,urinary tract infection,MONDO:0100338,,,,,,OMIM ID:MTHU037523 +BMGC_DS02569,BMG_DS003331,Urination Disorders,UMLS ID:C0042035,,,,,,,Urination Disorders,MeSH ID:D014555,,,, +BMGC_DS02570,BMG_DS003332,Urologic Diseases,UMLS ID:C0042075,,,,,urinary system disorder,MONDO:0002118,Urologic Diseases,MeSH ID:D014570,,,, +BMGC_DS02571,BMG_DS003333,,UMLS ID:C0042076,,,,,urinary system neoplasm,MONDO:0021066,,,urinary system benign neoplasm,DOID:731,, +BMGC_DS02572,BMG_DS003334,Urticaria,UMLS ID:C0042109,Urticaria | Urticaria (morphologic abnormality) | Urticaria | Urticaria (disorder) | (Angioneurotic edema) or (urticaria) | Urticaria | Angioneurotic oedema | (Angioneurotic oedema) or (urticaria) | Angioneurotic edema | (Angioneurotic oedema) or (urticaria) (disorder) | (Angioneurotic edema) or (urticaria) | Urticaria | (Angioneurotic oedema) or (urticaria) | Angioneurotic edema | Angioneurotic oedema | (Angioneurotic oedema) or (urticaria) (disorder),SNOMEDCT ID:64305001 | SNOMEDCT ID:126485001 | SNOMEDCT ID:269433002 | SNOMEDCT ID:156427005 | SNOMEDCT ID:157756002,,,urticaria,MONDO:0005492,Urticaria,MeSH ID:D014581,,,ICD10 ID:L50,OMIM ID:MTHU037793 +BMGC_DS02573,BMG_DS003335,,UMLS ID:C0042111,,,,,maculopapular cutaneous mastocytosis,MONDO:0019316,,,urticaria pigmentosa,DOID:12309,, +BMGC_DS02574,BMG_DS003336,Uterine Diseases,UMLS ID:C0042131,,,,,uterine disorder,MONDO:0002654,Uterine Diseases,MeSH ID:D014591,uterine disease,DOID:345,, +BMGC_DS02575,BMG_DS003337,,UMLS ID:C0042133,,,,,uterine corpus leiomyoma,MONDO:0007886,,,uterine fibroid,DOID:13223,,OMIM ID:150699 +BMGC_DS02576,BMG_DS003339,,UMLS ID:C0042138,,,,,tumor of uterus,MONDO:0021353,,,uterine cancer,DOID:363,, +BMGC_DS02577,BMG_DS003341,Uveal Diseases,UMLS ID:C0042161,,,,,uveal disorder,MONDO:0002661,Uveal Diseases,MeSH ID:D014603,uveal disease,DOID:3480,, +BMGC_DS02578,BMG_DS003343,Uveitis,UMLS ID:C0042164,Uveitis | Uveitis (disorder) | Intraocular inflammation | Cyclitis | Ciliary body disorders | Uveitis | Disorders of iris and ciliary body | Iris disorders | Iris/ciliary body disorders | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder) | Cyclitis | Iris/ciliary body disorders | Disorders of iris and ciliary body | Ciliary body disorders | Iris disorders | Uveitis | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) | Iris &/or ciliary body disorders (& [cyclitis] or [uveitis]) (disorder),SNOMEDCT ID:128473001 | SNOMEDCT ID:267719008 | SNOMEDCT ID:155116005,,,uveitis,MONDO:0020283,Uveitis,MeSH ID:D014605,uveitis,DOID:13141,,OMIM ID:MTHU007399 +BMGC_DS02579,BMG_DS003344,Anterior uveitis,UMLS ID:C0042165,Anterior uveitis | Anterior uveitis (disorder) | Iridocyclitis | Iridocyclitis (disorder) | Anterior uveitis (disorder) | Anterior uveitis,SNOMEDCT ID:193500005 | SNOMEDCT ID:77971008 | SNOMEDCT ID:231946008 | SNOMEDCT ID:410692006,,,anterior uveitis,MONDO:0006651,,,anterior uveitis,DOID:1407,,OMIM ID:MTHU021203 +BMGC_DS02580,BMG_DS003345,"Uveitis, Intermediate",UMLS ID:C0042166,,,,,intermediate uveitis,MONDO:0006806,"Uveitis, Intermediate",MeSH ID:D015867,intermediate uveitis,DOID:12732,, +BMGC_DS02581,BMG_DS003346,"Uveitis, Posterior",UMLS ID:C0042167,,,,,posterior uveitis,MONDO:0006918,"Uveitis, Posterior",MeSH ID:D015866,posterior uveitis,DOID:12574,, +BMGC_DS02582,BMG_DS003347,"Uveitis, Suppurative",UMLS ID:C0042168,,,,,suppurative uveitis,MONDO:0006990,"Uveitis, Suppurative",MeSH ID:D015829,suppurative uveitis,DOID:13140,, +BMGC_DS02583,BMG_DS003348,Uveomeningoencephalitic Syndrome,UMLS ID:C0042170,,,,,Vogt-Koyanagi-Harada disease,MONDO:0018092,Uveomeningoencephalitic Syndrome,MeSH ID:D014607,Vogt-Koyanagi-Harada disease,DOID:12297,, +BMGC_DS02584,BMG_DS003349,Uveoparotid Fever,UMLS ID:C0042171,,,,,uveoparotid fever,MONDO:0007011,Uveoparotid Fever,MeSH ID:D014608,uveoparotid fever,DOID:13404,, +BMGC_DS02585,BMG_DS003351,Vaccinia,UMLS ID:C0042214,Vaccinia | Vaccinia (disorder),SNOMEDCT ID:111852003,,,vaccinia,MONDO:0002595,Vaccinia,MeSH ID:D014615,vaccinia,DOID:3298,, +BMGC_DS02586,BMG_DS003354,,UMLS ID:C0042237,,,,,vaginal cancer,MONDO:0001402,,,vaginal cancer,DOID:119,, +BMGC_DS02587,BMG_DS003355,Vaginal Diseases,UMLS ID:C0042251,,,,,vaginal disorder,MONDO:0001433,Vaginal Diseases,MeSH ID:D014623,vaginal disease,DOID:121,, +BMGC_DS02588,BMG_DS003356,,UMLS ID:C0042258,,,,,vaginal neoplasm,MONDO:0021050,,,vaginal cancer,DOID:119,, +BMGC_DS02589,BMG_DS003357,,UMLS ID:C0042266,,,,,psychologic vaginismus,MONDO:0000946,,,psychologic vaginismus,DOID:10131,, +BMGC_DS02590,BMG_DS003358,Vaginitis,UMLS ID:C0042267,Vaginitis | Inflammation of vagina | Vaginitis (disorder) | Vaginitis | Vaginitis (disorder),SNOMEDCT ID:30800001 | SNOMEDCT ID:393596009,,,vaginitis,MONDO:0002234,Vaginitis,MeSH ID:D014627,vaginitis,DOID:2170,, +BMGC_DS02591,BMG_DS003359,Vaginitis and vulvovaginitis,UMLS ID:C0042268,Vaginitis and vulvovaginitis | Vaginitis and vulvovaginitis (disorder),SNOMEDCT ID:198212006,,,,,,,vaginitis,DOID:2170,, +BMGC_DS02592,BMG_DS003360,Migraine Variant,UMLS ID:C0042331,,,,,,,Migraine Disorders,MeSH ID:D008881,migraine,DOID:6364,, +BMGC_DS02593,BMG_DS003361,Varicocele,UMLS ID:C0042341,Varicocele | Varicocele (disorder) | Varicocele | Varicocele (disorder) | Scrotal varices,SNOMEDCT ID:155480003 | SNOMEDCT ID:51070004 | SNOMEDCT ID:195480007,Scrotal varices,ICD11 ID:BD75.1,varicocele,MONDO:0001498,Varicocele,MeSH ID:D014646,varicocele,DOID:12337,ICD10 ID:I86.1,OMIM ID:MTHU036940 +BMGC_DS02594,BMG_DS003362,Varicose Ulcer,UMLS ID:C0042344,,,,,,,Varicose Ulcer,MeSH ID:D014647,,,, +BMGC_DS02595,BMG_DS003363,,UMLS ID:C0042345,,,,,varicose disease,MONDO:0008638,,,varicose veins,DOID:799,,OMIM ID:192200 +BMGC_DS02596,BMG_DS003366,,UMLS ID:C0042370,,,,,conjunctival vascular disorder,MONDO:0001174,,,conjunctival vascular disease,DOID:10989,, +BMGC_DS02597,BMG_DS003367,Vascular Diseases,UMLS ID:C0042373,,,,,vascular disorder,MONDO:0005385,Vascular Diseases,MeSH ID:D014652,vascular disease,DOID:178,, +BMGC_DS02598,BMG_DS003368,Male genital organ vascular diseases,UMLS ID:C0042374,Male genital organ vascular diseases | Male genital organ vascular diseases (disorder),SNOMEDCT ID:198057005,,,male genital organ vascular disease,MONDO:0001497,,,male genital organ vascular disease,DOID:12335,, +BMGC_DS02599,BMG_DS003369,Vascular Headaches,UMLS ID:C0042376,,,,,obsolete vascular headache,MONDO:0040797,Vascular Headaches,MeSH ID:D014653,,,, +BMGC_DS02600,BMG_DS003370,Vasculitis,UMLS ID:C0042384,Vasculitis | Vasculitis (disorder) | Vasculitis | Angiitis | Vasculitis (disorder),SNOMEDCT ID:195375002 | SNOMEDCT ID:393589007 | SNOMEDCT ID:31996006,,,vasculitis,MONDO:0018882,Vasculitis,MeSH ID:D014657,vasculitis,DOID:865,,OMIM ID:MTHU018875 +BMGC_DS02601,BMG_DS003371,"Vasculitis, Hemorrhagic",UMLS ID:C0042386,,,,,,,IgA Vasculitis,MeSH ID:D011695,,,, +BMGC_DS02602,BMG_DS003374,Velopharyngeal Insufficiency,UMLS ID:C0042454,,,,,congenital velopharyngeal incompetence,MONDO:0008180,Velopharyngeal Insufficiency,MeSH ID:D014681,,,,OMIM ID:167500 +BMGC_DS02603,BMG_DS003376,Venous Insufficiency,UMLS ID:C0042485,,,,,venous insufficiency,MONDO:0000945,Venous Insufficiency,MeSH ID:D014689,venous insufficiency,DOID:10128,, +BMGC_DS02604,BMG_DS003377,Ventricular Fibrillation,UMLS ID:C0042510,,,,,ventricular fibrillation,MONDO:0000190,Ventricular Fibrillation,MeSH ID:D014693,,,, +BMGC_DS02605,BMG_DS003378,Ventricular Outflow Obstruction,UMLS ID:C0042512,,,,,,,Ventricular Outflow Obstruction,MeSH ID:D014694,,,, +BMGC_DS02606,BMG_DS003379,"Tachycardia, Ventricular",UMLS ID:C0042514,,,,,ventricular tachycardia,MONDO:0005477,"Tachycardia, Ventricular",MeSH ID:D017180,,,, +BMGC_DS02607,BMG_DS003380,Plantar wart,UMLS ID:C0042548,Plantar wart | Plantar wart (disorder) | Verruca plantaris | Plantar wart | Verruca plantaris (disorder) | Verruca pedis | VP - verruca pedis,SNOMEDCT ID:154363006 | SNOMEDCT ID:63440008,,,plantar wart,MONDO:0001795,,,plantar wart,DOID:13775,ICD10 ID:B07.0, +BMGC_DS02608,BMG_DS003382,Vertebral Artery Insufficiency,UMLS ID:C0042560,,,,,vertebral artery insufficiency,MONDO:0001631,Vertebrobasilar Insufficiency,MeSH ID:D014715,vertebral artery insufficiency,DOID:13095,, +BMGC_DS02609,BMG_DS003383,Vertebrobasilar Insufficiency,UMLS ID:C0042568,,,,,vertebrobasilar insufficiency,MONDO:0001613,Vertebrobasilar Insufficiency,MeSH ID:D014715,vertebrobasilar insufficiency,DOID:13003,, +BMGC_DS02610,BMG_DS003384,Vesico-Ureteral Reflux,UMLS ID:C0042580,,,,,vesicoureteral reflux,MONDO:0006007,Vesico-Ureteral Reflux,MeSH ID:D014718,vesicoureteral reflux,DOID:9620,, +BMGC_DS02611,BMG_DS003387,Seminal vesiculitis,UMLS ID:C0042588,Seminal vesiculitis | Spermatocystitis | Seminal vesiculitis (disorder) | Seminal vesiculitis | Seminal vesiculitis (disorder),SNOMEDCT ID:27001009 | SNOMEDCT ID:155935006,,,vesiculitis,MONDO:0004767,,,vesiculitis,DOID:9365,, +BMGC_DS02612,BMG_DS003388,Vestibular Diseases,UMLS ID:C0042594,,,,,vestibular disorder,MONDO:0002643,Vestibular Diseases,MeSH ID:D015837,vestibular disease,DOID:3426,, +BMGC_DS02613,BMG_DS003389,Vibrio Infections,UMLS ID:C0042636,,,,,vibrio infectious disease,MONDO:0007014,Vibrio Infections,MeSH ID:D014735,,,, +BMGC_DS02614,BMG_DS003390,"Neuralgia, Vidian",UMLS ID:C0042656,,,,,,,Neuralgia,MeSH ID:D009437,,,, +BMGC_DS02615,BMG_DS003394,Viremia,UMLS ID:C0042749,Viremia | Viraemia | Viremia (finding),SNOMEDCT ID:2528003,,,,,Viremia,MeSH ID:D014766,,,, +BMGC_DS02616,BMG_DS003395,Virus Diseases,UMLS ID:C0042769,,,,,viral infectious disease | ,MONDO:0005108,Virus Diseases,MeSH ID:D014777,viral infectious disease,DOID:934,, +BMGC_DS02617,BMG_DS003396,Visceral Myopathy,UMLS ID:C0042781,,,,,,,Intestinal Pseudo-Obstruction,MeSH ID:D007418,,,, +BMGC_DS02618,BMG_DS003398,,UMLS ID:C0042790,,,,,vision disorder,MONDO:0021084,,,,,, +BMGC_DS02619,BMG_DS003400,Low Vision,UMLS ID:C0042798,,,,,,,"Vision, Low",MeSH ID:D015354,,,, +BMGC_DS02620,BMG_DS003401,Vitamin A Deficiency,UMLS ID:C0042842,,,,,vitamin A deficiency,MONDO:0007016,Vitamin A Deficiency,MeSH ID:D014802,,,, +BMGC_DS02621,BMG_DS003402,Vitamin B 12 Deficiency,UMLS ID:C0042847,,,,,vitamin B12 deficiency,MONDO:0020696,Vitamin B 12 Deficiency,MeSH ID:D014806,vitamin B12 deficiency,DOID:0050731,, +BMGC_DS02622,BMG_DS003403,Vitamin B Deficiency,UMLS ID:C0042850,,,,,vitamin B deficiency,MONDO:0042976,Vitamin B Deficiency,MeSH ID:D014804,,,, +BMGC_DS02623,BMG_DS003404,Vitamin D Deficiency,UMLS ID:C0042870,,,,,vitamin D deficiency,MONDO:0100471,Vitamin D Deficiency,MeSH ID:D014808,,,, +BMGC_DS02624,BMG_DS003405,Vitamin E Deficiency,UMLS ID:C0042875,,,,,,,Vitamin E Deficiency,MeSH ID:D014811,,,, +BMGC_DS02625,BMG_DS003406,Vitamin K Deficiency,UMLS ID:C0042880,,,,,,,Vitamin K Deficiency,MeSH ID:D014813,vitamin K deficiency bleeding,DOID:11249,, +BMGC_DS02626,BMG_DS003407,Vitiligo,UMLS ID:C0042900,Vitiligo | Vitiligo (disorder),SNOMEDCT ID:156437000 | SNOMEDCT ID:56727007,,,vitiligo,MONDO:0008661,Vitiligo,MeSH ID:D014820,vitiligo,DOID:12306,ICD10 ID:L80,OMIM ID:MTHU012246 +BMGC_DS02627,BMG_DS003409,Vitreous abscess,UMLS ID:C0042904,Vitreous abscess | Vitreous abscess (disorder),SNOMEDCT ID:48142003,,,vitreous abscess,MONDO:0004862,,,vitreous abscess,DOID:9723,, +BMGC_DS02628,BMG_DS003410,Vitreous Detachment,UMLS ID:C0042907,,,,,,,Vitreous Detachment,MeSH ID:D020255,vitreous detachment,DOID:9726,, +BMGC_DS02629,BMG_DS003413,Voice Disorders,UMLS ID:C0042940,,,,,voice disorders,MONDO:0043862,Voice Disorders,MeSH ID:D014832,,,, +BMGC_DS02630,BMG_DS003414,Volkmann Contracture,UMLS ID:C0042951,,,,,Volkmann contracture,MONDO:0003528,Ischemic Contracture,MeSH ID:D054061,Volkmann contracture,DOID:5587,, +BMGC_DS02631,BMG_DS003415,Intestinal Volvulus,UMLS ID:C0042961,,,,,intestinal volvulus,MONDO:0004570,Intestinal Volvulus,MeSH ID:D045822,intestinal volvulus,DOID:8445,, +BMGC_DS02632,BMG_DS003416,von Willebrand Disease,UMLS ID:C0042974,,,,,von Willebrand disease (hereditary or acquired),MONDO:0024574,von Willebrand Diseases,MeSH ID:D014842,von Willebrand's disease,DOID:12531,, +BMGC_DS02633,BMG_DS003418,Vulvar Diseases,UMLS ID:C0042994,,,,,vulvar disease,MONDO:0002187,Vulvar Diseases,MeSH ID:D014845,vulvar disease,DOID:2059,, +BMGC_DS02634,BMG_DS003419,,UMLS ID:C0042995,,,,,vulvar neoplasm,MONDO:0021049,,,vulva cancer,DOID:1245,, +BMGC_DS02635,BMG_DS003420,Vulvitis,UMLS ID:C0042996,Vulvitis | Vulvitis (disorder),SNOMEDCT ID:63144007,,,vulvitis,MONDO:0007018,Vulvitis,MeSH ID:D014847,vulvitis,DOID:3901,, +BMGC_DS02636,BMG_DS003421,Vulvovaginitis,UMLS ID:C0042998,Vulvovaginitis | Vulvovaginitis (disorder) | Vulvitis - non sp. | Vulvovaginitis | Vaginitis - non sp. | Vaginitis/vulvovaginitis | Vulvo-vaginitis | Bacterial vaginosis | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder) | Bacterial vaginosis | Vaginitis - non sp. | Vulvitis - non sp. | Vulvovaginitis | Vaginitis/vulvovaginitis | Vulvo-vaginitis | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder),SNOMEDCT ID:53277000 | SNOMEDCT ID:266655004 | SNOMEDCT ID:155981006,,,vulvovaginitis,MONDO:0007019,Vulvovaginitis,MeSH ID:D014848,vulvovaginitis,DOID:2273,,OMIM ID:MTHU026353 +BMGC_DS02637,BMG_DS003422,Lateral Medullary Syndrome,UMLS ID:C0043019,,,,,lateral medullary syndrome,MONDO:0006827,Lateral Medullary Syndrome,MeSH ID:D014854,lateral medullary syndrome,DOID:3522,, +BMGC_DS02638,BMG_DS003423,,UMLS ID:C0043020,,,,,Wallerian degeneration,MONDO:0043280,,,,,, +BMGC_DS02639,BMG_DS003424,,UMLS ID:C0043037,,,,,,,,,common wart,DOID:11165,, +BMGC_DS02640,BMG_DS003425,Wasting Syndrome,UMLS ID:C0043046,,,,,,,Wasting Syndrome,MeSH ID:D019282,,,, +BMGC_DS02641,BMG_DS003426,Water Intoxication,UMLS ID:C0043049,,,,,water intoxication,MONDO:0022007,Water Intoxication,MeSH ID:D014869,,,, +BMGC_DS02642,BMG_DS003427,Waterhouse-Friderichsen Syndrome,UMLS ID:C0043068,,,,,,,Waterhouse-Friderichsen Syndrome,MeSH ID:D014884,Waterhouse-Friderichsen syndrome,DOID:9931,, +BMGC_DS02643,BMG_DS003429,HMN (Hereditary Motor Neuropathy) Proximal Type I,UMLS ID:C0043116,,,,,,,Hereditary Sensory and Motor Neuropathy,MeSH ID:D015417,Werdnig-Hoffmann disease,DOID:13137,, +BMGC_DS02644,BMG_DS003430,Werner Syndrome,UMLS ID:C0043119,,,,,Werner syndrome,MONDO:0010196,Werner Syndrome,MeSH ID:D014898,Werner syndrome,DOID:5688,,OMIM ID:277700 +BMGC_DS02645,BMG_DS003431,Wernicke Encephalopathy,UMLS ID:C0043121,,,,,Wernicke encephalopathy,MONDO:0007020,Wernicke Encephalopathy,MeSH ID:D014899,Wernicke encephalopathy,DOID:2384,, +BMGC_DS02646,BMG_DS003432,West Nile Fever,UMLS ID:C0043124,,,,,West Nile fever,MONDO:0002282,West Nile Fever,MeSH ID:D014901,West Nile fever,DOID:2366,, +BMGC_DS02647,BMG_DS003435,Dental White Spot,UMLS ID:C0043154,,,,,,,Dental Caries,MeSH ID:D003731,,,, +BMGC_DS02648,BMG_DS003436,Pertussis,UMLS ID:C0043167,Pertussis | Infection due to Bordetella pertussis | Whooping cough | WC - Whooping cough | Pertussis (disorder),SNOMEDCT ID:27836007,,,pertussis,MONDO:0005077,Whooping Cough,MeSH ID:D014917,,,, +BMGC_DS02649,BMG_DS003438,Wiskott-Aldrich Syndrome,UMLS ID:C0043194,,,,,Wiskott-Aldrich syndrome,MONDO:0010518,Wiskott-Aldrich Syndrome,MeSH ID:D014923,Wiskott-Aldrich syndrome,DOID:9169,,OMIM ID:301000 +BMGC_DS02650,BMG_DS003439,Wissler's Syndrome,UMLS ID:C0043195,,,,,Wissler syndrome,MONDO:0006018,Wissler's Syndrome,MeSH ID:D014924,Wissler-Fanconi syndrome,DOID:3047,, +BMGC_DS02651,BMG_DS003440,Wolff-Parkinson-White Syndrome,UMLS ID:C0043202,,,,,Wolff-Parkinson-White syndrome,MONDO:0008685,Wolff-Parkinson-White Syndrome,MeSH ID:D014927,Wolff-Parkinson-White syndrome,DOID:384,,OMIM ID:194200 +BMGC_DS02652,BMG_DS003441,Wolfram Syndrome,UMLS ID:C0043207,,,,,Wolfram syndrome,MONDO:0018105,Wolfram Syndrome,MeSH ID:D014929,Wolfram syndrome,DOID:10632,, +BMGC_DS02653,BMG_DS003442,Wolman Disease,UMLS ID:C0043208,,,,,Wolman disease,MONDO:0019148,Wolman Disease,MeSH ID:D015223,Wolman disease,DOID:14497,,OMIM ID:620151 +BMGC_DS02654,BMG_DS003444,,UMLS ID:C0043324,,,,,juvenile xanthogranuloma,MONDO:0015534,,,juvenile xanthogranuloma,DOID:4424,, +BMGC_DS02655,BMG_DS003445,Xanthomatosis,UMLS ID:C0043325,Xanthomatosis | Xanthoma | Xanthomatosis (disorder),SNOMEDCT ID:63103006,,,xanthomatosis,MONDO:0002615,Xanthomatosis,MeSH ID:D014973,xanthomatosis,DOID:3345,, +BMGC_DS02656,BMG_DS003446,Xeroderma,UMLS ID:C0043345,Xeroderma | Xerodermia | Xeroderma (disorder) | Dry skin | Anhydrotic skin,SNOMEDCT ID:52475004,Vitamin A deficiency with other specified manifestations,ICD11 ID:5B55.Y,,,Ichthyosis,MeSH ID:D007057,ichthyosis,DOID:1697,ICD10 ID:E50.8,OMIM ID:MTHU077186 +BMGC_DS02657,BMG_DS003447,,UMLS ID:C0043346,,,,,xeroderma pigmentosum,MONDO:0019600,,,xeroderma pigmentosum,DOID:0050427,, +BMGC_DS02658,BMG_DS003448,Xerophthalmia,UMLS ID:C0043349,Xerophthalmia | Xerophthalmia (disorder) | Vitamin A deficiency with xerophthalmia | Vitamin A deficiency with xerophthalmia (disorder) | Conjunctival xerosis (& [xerophthalmia]) | Conjunctival xerosis | Xerophthalmia | Conjunctival xerosis (& [xerophthalmia]) (disorder),SNOMEDCT ID:363677007 | SNOMEDCT ID:155167008 | SNOMEDCT ID:69316005 | SNOMEDCT ID:193887002,,,,,Xerophthalmia,MeSH ID:D014985,xerophthalmia,DOID:10138,,OMIM ID:MTHU057773 +BMGC_DS02659,BMG_DS003449,Xerostomia,UMLS ID:C0043352,Dry mouth | Xerostomia | Dry mouth (finding) | (Dry mouth) or (salivary hyposecretion) | Xerostomia | Dry mouth | Salivary hyposecretion | (Dry mouth) or (salivary hyposecretion) (disorder) | Aptyalism | Xerostomia | Absent salivary secretion | Aptyalia | Asialia | Dry mouth | Clinical xerostomia | Xerostomia (finding),SNOMEDCT ID:162014002 | SNOMEDCT ID:196513007 | SNOMEDCT ID:87715008,Disturbances of salivary secretion,ICD11 ID:DA04.6,,,Xerostomia,MeSH ID:D014987,,,ICD10 ID:K11.7,OMIM ID:MTHU036698 +BMGC_DS02660,BMG_DS003450,Yaws,UMLS ID:C0043388,Other venereal/spirochaete disease | Lymphogranuloma venereum | Leptospirosis | Chancroid | Yaws | Vincent's angina | Trench mouth | Angina - Vincents | Weil's disease | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Angina - Vincents | Leptospirosis | Chancroid | Weil's disease | Yaws | Vincent's angina | Trench mouth | Lymphogranuloma venereum | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] | Other venereal/spirochaete dis | Other venereal/spirochaete disease | Spirochaete disease: [other venereal] or [Vincent's angina] or [chancroid] or [leptospirosis] or [lymphogranuloma venereum] or [trench mouth] or [Weil's disease] or [Yaws] (disorder) | Yaws | Frambesia | Pian | Buba | Infection by Treponema pertenue | Yaws (disorder) | Framboesia,SNOMEDCT ID:266213004 | SNOMEDCT ID:154391003 | SNOMEDCT ID:70647001,,,yaws,MONDO:0006019,Yaws,MeSH ID:D015001,yaws,DOID:10371,ICD10 ID:A66, +BMGC_DS02661,BMG_DS003451,Yellow Fever,UMLS ID:C0043395,,,,,yellow fever,MONDO:0020502,Yellow Fever,MeSH ID:D015004,yellow fever,DOID:9682,, +BMGC_DS02662,BMG_DS003454,Yersinia pseudotuberculosis Infections,UMLS ID:C0043410,,,,,Yersinia pseudotuberculosis infectious disease,MONDO:0007024,Yersinia pseudotuberculosis Infections,MeSH ID:D015012,,,, +BMGC_DS02663,BMG_DS003455,Zellweger Syndrome,UMLS ID:C0043459,,,,,Zellweger spectrum disorders,MONDO:0019609,Zellweger Syndrome,MeSH ID:D015211,Zellweger syndrome,DOID:905,, +BMGC_DS02664,BMG_DS003456,Zollinger-Ellison syndrome,UMLS ID:C0043515,Zollinger-Ellison syndr | Zollinger-Ellison syndrome | Other pancreatic secretion dis | Hyperinsulinism | Zollinger - Ellison syndrome | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Hyperinsulinism | Zollinger - Ellison syndrome | Zollinger-Ellison syndrome | Other pancreatic secretion dis | Zollinger-Ellison syndr | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) | (Other pancreatic secretion disorder) or (hyperinsulinism) or (Zollinger-Ellison syndrome) (disorder) | Zollinger-Ellison syndrome | Zollinger-Ellison syndrome (disorder) | Excessive gastrin secretion | ZE - Zollinger-Ellison syndrome,SNOMEDCT ID:267477002 | SNOMEDCT ID:154694003 | SNOMEDCT ID:53132006,"Abnormal secretion of gastrin, unspecified",ICD11 ID:5A43.Z,Zollinger-Ellison syndrome,MONDO:0019610,,,Zollinger-Ellison syndrome,DOID:0050782,ICD10 ID:E16.4,OMIM ID:MTHU036718 +BMGC_DS02665,BMG_DS003458,Zygomycosis,UMLS ID:C0043541,Zygomycosis | Phycomycosis | Zygomycosis (disorder) | Zygomycosis (& [mucormycosis]) | Zygomycosis | Phycomycosis | Mucormycosis | Zygomycosis (& [mucormycosis]) (disorder),SNOMEDCT ID:59277005 | SNOMEDCT ID:187098003,,,Zygomycosis,MONDO:0019136,Zygomycosis,MeSH ID:D020096,,,ICD10 ID:B46, +BMGC_DS02666,BMG_DS003459,Accelerated Idioventricular Rhythm,UMLS ID:C0078888,,,,,,,Accelerated Idioventricular Rhythm,MeSH ID:D016170,,,, +BMGC_DS02667,BMG_DS003461,,UMLS ID:C0078917,,,,,ocular albinism,MONDO:0017304,,,,,, +BMGC_DS02668,BMG_DS003462,,UMLS ID:C0078918,,,,,oculocutaneous albinism,MONDO:0018910,,,,,, +BMGC_DS02669,BMG_DS003463,Arachnoid Cysts,UMLS ID:C0078981,,,,,arachnoid cyst,MONDO:0008813,Arachnoid Cysts,MeSH ID:D016080,,,, +BMGC_DS02670,BMG_DS003465,Cerebral Thrombosis,UMLS ID:C0079102,,,,,,,Intracranial Thrombosis,MeSH ID:D020767,intracranial thrombosis,DOID:4193,, +BMGC_DS02671,BMG_DS003466,Cockayne-Touraine Disease,UMLS ID:C0079136,,,,,,,Epidermolysis Bullosa Dystrophica,MeSH ID:D016108,,,, +BMGC_DS02672,BMG_DS003467,"Hyperkeratosis, Epidermolytic",UMLS ID:C0079153,,,,,epidermolytic ichthyosis,MONDO:0007239,"Hyperkeratosis, Epidermolytic",MeSH ID:D017488,epidermolytic hyperkeratosis,DOID:4603,, +BMGC_DS02673,BMG_DS003468,Congenital Nonbullous Ichthyosiform Erythroderma,UMLS ID:C0079154,,,,,congenital non-bullous ichthyosiform erythroderma,MONDO:0019306,"Ichthyosis, Lamellar",MeSH ID:D017490,autosomal recessive congenital ichthyosis,DOID:0060655,, +BMGC_DS02674,BMG_DS003470,,UMLS ID:C0079218,,,,,desmoid tumor,MONDO:0007608,,,,,,OMIM ID:135290 +BMGC_DS02675,BMG_DS003472,Epidermolysis Bullosa Acquisita,UMLS ID:C0079293,,,,,acquired epidermolysis bullosa,MONDO:0018747,Epidermolysis Bullosa Acquisita,MeSH ID:D016107,epidermolysis bullosa acquisita,DOID:4313,, +BMGC_DS02676,BMG_DS003473,Epidermolysis Bullosa Dystrophica,UMLS ID:C0079294,,,,,epidermolysis bullosa dystrophica,MONDO:0006543,Epidermolysis Bullosa Dystrophica,MeSH ID:D016108,epidermolysis bullosa dystrophica,DOID:4959,, +BMGC_DS02677,BMG_DS003474,Epidermolysis Bullosa Herpetiformis Dowling-Meara,UMLS ID:C0079295,,,,,"epidermolysis bullosa simplex 1A, generalized severe",MONDO:0007550,Epidermolysis Bullosa Simplex,MeSH ID:D016110,,,,OMIM ID:131760 +BMGC_DS02678,BMG_DS003475,Epidermolysis Bullosa Progressiva,UMLS ID:C0079297,,,,,,,"Epidermolysis Bullosa, Junctional",MeSH ID:D016109,,,, +BMGC_DS02679,BMG_DS003476,Epidermolysis Bullosa Simplex,UMLS ID:C0079298,,,,,epidermolysis bullosa simplex,MONDO:0017610,Epidermolysis Bullosa Simplex,MeSH ID:D016110,epidermolysis bullosa simplex,DOID:4644,, +BMGC_DS02680,BMG_DS003477,Junctional Epidermolysis Bullosa,UMLS ID:C0079301,,,,,junctional epidermolysis bullosa,MONDO:0017612,"Epidermolysis Bullosa, Junctional",MeSH ID:D016109,junctional epidermolysis bullosa,DOID:3209,, +BMGC_DS02681,BMG_DS003479,Hallopeau-Siemens Disease,UMLS ID:C0079474,,,,,recessive dystrophic epidermolysis bullosa,MONDO:0009179,Epidermolysis Bullosa Dystrophica,MeSH ID:D016108,,,,OMIM ID:226600 +BMGC_DS02682,BMG_DS003480,Heart Valve Prolapse,UMLS ID:C0079485,,,,,,,Heart Valve Prolapse,MeSH ID:D016127,heart valve disease,DOID:4079,, +BMGC_DS02683,BMG_DS003481,Helicobacter Infections,UMLS ID:C0079487,,,,,Helicobacter pylori infectious disease,MONDO:0006781,Helicobacter Infections,MeSH ID:D016481,,,, +BMGC_DS02684,BMG_DS003482,Hermanski-Pudlak Syndrome,UMLS ID:C0079504,,,,,Hermansky-Pudlak syndrome,MONDO:0019312,Hermanski-Pudlak Syndrome,MeSH ID:D022861,Hermansky-Pudlak syndrome,DOID:3753,, +BMGC_DS02685,BMG_DS003483,,UMLS ID:C0079541,,,,,holoprosencephaly,MONDO:0016296,,,holoprosencephaly,DOID:4621,, +BMGC_DS02686,BMG_DS003484,"Ichthyosiform Erythroderma, Congenital",UMLS ID:C0079583,,,,,,,"Ichthyosiform Erythroderma, Congenital",MeSH ID:D016113,,,, +BMGC_DS02687,BMG_DS003485,Ichthyosis Vulgaris,UMLS ID:C0079584,,,,,ichthyosis vulgaris,MONDO:0024304,Ichthyosis Vulgaris,MeSH ID:D016112,ichthyosis vulgaris,DOID:1702,, +BMGC_DS02688,BMG_DS003486,"Ichthyosis, X-Linked",UMLS ID:C0079588,,,,,recessive X-linked ichthyosis,MONDO:0010622,"Ichthyosis, X-Linked",MeSH ID:D016114,X-linked ichthyosis,DOID:1700,,OMIM ID:308100 +BMGC_DS02689,BMG_DS003487,Klein's Syndrome,UMLS ID:C0079661,,,,,Waardenburg syndrome type 3,MONDO:0007862,Waardenburg Syndrome,MeSH ID:D014849,Waardenburg syndrome,DOID:9258,,OMIM ID:148820 +BMGC_DS02690,BMG_DS003488,Lentivirus Infections,UMLS ID:C0079680,,,,,lentivirus infection,MONDO:0022034,Lentivirus Infections,MeSH ID:D016180,,,, +BMGC_DS02691,BMG_DS003489,Herlitz Disease,UMLS ID:C0079683,,,,,junctional epidermolysis bullosa Herlitz type,MONDO:0009182,"Epidermolysis Bullosa, Junctional",MeSH ID:D016109,,,,OMIM ID:226700 +BMGC_DS02692,BMG_DS003490,,UMLS ID:C0079731,,,,,B-cell neoplasm,MONDO:0004095,,,B-cell lymphoma,DOID:707,, +BMGC_DS02693,BMG_DS003491,,UMLS ID:C0079744,,,,,diffuse large B-cell lymphoma,MONDO:0018905,,,,,, +BMGC_DS02694,BMG_DS003494,,UMLS ID:C0079772,,,,,T-cell non-Hodgkin lymphoma,MONDO:0015760,,,T-cell non-Hodgkin lymphoma,DOID:0081312,, +BMGC_DS02695,BMG_DS003495,,UMLS ID:C0079773,,,,,primary cutaneous T-cell lymphoma,MONDO:0015758,,,,,, +BMGC_DS02696,BMG_DS003496,,UMLS ID:C0079774,,,,,primary cutaneous peripheral T-cell lymphoma not otherwise specified,MONDO:0019476,,,,,, +BMGC_DS02697,BMG_DS003497,,UMLS ID:C0079840,,,,,,,,,milk allergy,DOID:4376,, +BMGC_DS02698,BMG_DS003498,,UMLS ID:C0079924,,,,,oligohydramnios,MONDO:0005881,,,oligohydramnios,DOID:12215,, +BMGC_DS02699,BMG_DS003502,,UMLS ID:C0080024,,,,,piebaldism,MONDO:0008244,,,piebaldism,DOID:3263,,OMIM ID:172800 +BMGC_DS02700,BMG_DS003504,Postpoliomyelitis Syndrome,UMLS ID:C0080040,,,,,postpoliomyelitis syndrome,MONDO:0017416,Postpoliomyelitis Syndrome,MeSH ID:D016262,postpoliomyelitis syndrome,DOID:4952,, +BMGC_DS02701,BMG_DS003506,Vesicular Skin Diseases,UMLS ID:C0080159,,,,,,,"Skin Diseases, Vesiculobullous",MeSH ID:D012872,,,, +BMGC_DS02702,BMG_DS003508,,UMLS ID:C0080178,,,,,spina bifida,MONDO:0008449,,,spina bifida,DOID:0080016,, +BMGC_DS02703,BMG_DS003509,Tethered Cord Syndrome,UMLS ID:C0080218,,,,,tethered spinal cord syndrome,MONDO:0006995,Neural Tube Defects,MeSH ID:D009436,,,, +BMGC_DS02704,BMG_DS003512,Weber-Cockayne Syndrome,UMLS ID:C0080333,,,,,"epidermolysis bullosa simplex 1C, localized",MONDO:0007551,Epidermolysis Bullosa Simplex,MeSH ID:D016110,,,,OMIM ID:131800 +BMGC_DS02705,BMG_DS003514,Granuloma Annulare,UMLS ID:C0085074,,,,,granuloma annulare,MONDO:0006554,Granuloma Annulare,MeSH ID:D016460,granuloma annulare,DOID:3777,, +BMGC_DS02706,BMG_DS003515,Sweet Syndrome,UMLS ID:C0085077,,,,,sweet syndrome,MONDO:0011959,Sweet Syndrome,MeSH ID:D016463,Sweet syndrome,DOID:0080746,,OMIM ID:608068 +BMGC_DS02707,BMG_DS003516,Lysosomal Storage Diseases,UMLS ID:C0085078,,,,,lysosomal storage disease,MONDO:0002561,Lysosomal Storage Diseases,MeSH ID:D016464,lysosomal storage disease,DOID:3211,, +BMGC_DS02708,BMG_DS003517,Fungemia,UMLS ID:C0085082,Fungemia | Fungaemia | Fungaemia (disorder) | Systemic mycosis (disorder) | Systemic mycosis | Systemic fungal infection | Disseminated mycosis | Fungemia (finding) | Fungaemia | Fungemia | Systemic mycosis | Systemic fungal infection | Fungemia | Disseminated hyalohyphomycosis | Disseminated mycosis | Fungaemia | Systemic mycosis (disorder),SNOMEDCT ID:240695000 | SNOMEDCT ID:399314004 | SNOMEDCT ID:434532004 | SNOMEDCT ID:57202009,,,,,Fungemia,MeSH ID:D016469,,,, +BMGC_DS02709,BMG_DS003518,Ovarian Hyperstimulation Syndrome,UMLS ID:C0085083,,,,,ovarian hyperstimulation syndrome,MONDO:0011972,Ovarian Hyperstimulation Syndrome,MeSH ID:D016471,ovarian hyperstimulation syndrome,DOID:5425,,OMIM ID:608115 +BMGC_DS02710,BMG_DS003519,Motor Neuron Disease,UMLS ID:C0085084,,,,,motor neuron disorder,MONDO:0020128,Motor Neuron Disease,MeSH ID:D016472,motor neuron disease,DOID:231,, +BMGC_DS02711,BMG_DS003520,Peripheral Vascular Diseases,UMLS ID:C0085096,,,,,peripheral vascular disease,MONDO:0005294,Peripheral Vascular Diseases,MeSH ID:D016491,,,, +BMGC_DS02712,BMG_DS003521,Familial benign pemphigus,UMLS ID:C0085106,Familial benign pemphigus | Hailey-Hailey disease | Familial benign chronic pemphigus | Familial benign pemphigus (disorder) | Benign familial chronic pemphigus | Hailey Hailey disease,SNOMEDCT ID:79468000,,,Hailey-Hailey disease,MONDO:0008218,,,Hailey-Hailey disease,DOID:0050429,,OMIM ID:169600 +BMGC_DS02713,BMG_DS003522,Corneal Neovascularization,UMLS ID:C0085109,,,,,corneal neovascularization,MONDO:0006713,Corneal Neovascularization,MeSH ID:D016510,corneal neovascularization,DOID:11382,, +BMGC_DS02714,BMG_DS003523,Severe Combined Immunodeficiency,UMLS ID:C0085110,,,,,severe combined immunodeficiency,MONDO:0015974,Severe Combined Immunodeficiency,MeSH ID:D016511,severe combined immunodeficiency,DOID:627,, +BMGC_DS02715,BMG_DS003524,Foot Ulcer,UMLS ID:C0085119,,,,,,,Foot Ulcer,MeSH ID:D016523,,,, +BMGC_DS02716,BMG_DS003525,Bronchial Hyperreactivity,UMLS ID:C0085129,,,,,,,Bronchial Hyperreactivity,MeSH ID:D016535,,,, +BMGC_DS02717,BMG_DS003526,Gangliosidosis GM1,UMLS ID:C0085131,,,,,GM1 gangliosidosis,MONDO:0018149,"Gangliosidosis, GM1",MeSH ID:D016537,GM1 gangliosidosis,DOID:3322,, +BMGC_DS02718,BMG_DS003527,Mucopolysaccharidosis VII,UMLS ID:C0085132,,,,,mucopolysaccharidosis type 7,MONDO:0009662,Mucopolysaccharidosis VII,MeSH ID:D016538,Sly syndrome,DOID:12803,,OMIM ID:253220 +BMGC_DS02719,BMG_DS003528,,UMLS ID:C0085136,,,,,central nervous system neoplasm,MONDO:0006130,,,central nervous system cancer,DOID:3620,, +BMGC_DS02720,BMG_DS003529,,UMLS ID:C0085138,,,,,choroid plexus neoplasm,MONDO:0016717,,,choroid plexus cancer,DOID:3540,, +BMGC_DS02721,BMG_DS003530,,UMLS ID:C0085159,,,,,seasonal affective disorder,MONDO:0000694,,,,,, +BMGC_DS02722,BMG_DS003531,Hidradenitis,UMLS ID:C0085160,Hidradenitis | Hidradenitis (disorder) | Hidradenitis (& hidradenitis suppurativa) | Hidradenitis | Hidradenitis suppurativa | Hidradenitis (& hidradenitis suppurativa) (disorder) | Hidradenitis | Hydradenitis | Dyshidrosis | Hidradenitis suppurativa | Sweat gland problems NOS | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) (disorder) | Sweat gland problems NOS | Hidradenitis suppurativa | Hydradenitis | Dyshidrosis | Hidradenitis | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) | (Sweat gland problems NOS) or (dyshidrosis) or (hydradenitis (& [suppurativa]) (disorder),SNOMEDCT ID:267814008 | SNOMEDCT ID:201204008 | SNOMEDCT ID:267866004 | SNOMEDCT ID:156417004 | SNOMEDCT ID:69741000,,,hidradenitis,MONDO:0002260,Hidradenitis,MeSH ID:D016575,hidradenitis,DOID:2282,, +BMGC_DS02723,BMG_DS003532,Bacterial Vaginosis,UMLS ID:C0085166,,,,,bacterial vaginosis,MONDO:0005316,"Vaginosis, Bacterial",MeSH ID:D016585,bacterial vaginosis,DOID:3385,, +BMGC_DS02724,BMG_DS003533,,UMLS ID:C0085167,,,,,granular cell tumor,MONDO:0006235,,,granular cell tumor,DOID:2411,, +BMGC_DS02725,BMG_DS003534,Eosinophilia-Myalgia Syndrome,UMLS ID:C0085179,,,,,eosinophilia-myalgia syndrome,MONDO:0004941,Eosinophilia-Myalgia Syndrome,MeSH ID:D016603,eosinophilia-myalgia syndrome,DOID:998,, +BMGC_DS02726,BMG_DS003535,Gestational Diabetes,UMLS ID:C0085207,,,,,gestational diabetes,MONDO:0005406,"Diabetes, Gestational",MeSH ID:D016640,gestational diabetes,DOID:11714,, +BMGC_DS02727,BMG_DS003536,"Encephalopathy, Bovine Spongiform",UMLS ID:C0085209,,,,,"encephalopathy, bovine spongiform",MONDO:0025149,"Encephalopathy, Bovine Spongiform",MeSH ID:D016643,variant Creutzfeldt-Jakob disease,DOID:5435,, +BMGC_DS02728,BMG_DS003537,"Ovarian Failure, Premature",UMLS ID:C0085215,,,,,primary ovarian failure,MONDO:0005387,Primary Ovarian Insufficiency,MeSH ID:D016649,primary ovarian insufficiency,DOID:5426,, +BMGC_DS02729,BMG_DS003538,Cerebral Amyloid Angiopathy,UMLS ID:C0085220,,,,,,,Cerebral Amyloid Angiopathy,MeSH ID:D016657,,,, +BMGC_DS02730,BMG_DS003539,Psoas Abscess,UMLS ID:C0085222,,,,,,,Psoas Abscess,MeSH ID:D016659,,,, +BMGC_DS02731,BMG_DS003541,Adult-Onset Still Disease,UMLS ID:C0085253,,,,,adult-onset Still disease,MONDO:0019355,"Still's Disease, Adult-Onset",MeSH ID:D016706,adult-onset Still's disease,DOID:14256,, +BMGC_DS02732,BMG_DS003542,,UMLS ID:C0085261,,,,,Proteus syndrome,MONDO:0008318,,,Proteus syndrome,DOID:13482,,OMIM ID:176920 +BMGC_DS02733,BMG_DS003543,,UMLS ID:C0085269,,,,,pulmonary plasma cell granuloma,MONDO:0006933,,,pulmonary plasma cell granuloma,DOID:3677,, +BMGC_DS02734,BMG_DS003544,Orbital Pseudotumor,UMLS ID:C0085270,,,,,orbital pseudotumor,MONDO:0004769,Orbital Pseudotumor,MeSH ID:D016727,orbital plasma cell granuloma,DOID:9369,, +BMGC_DS02735,BMG_DS003545,Erythema Infectiosum,UMLS ID:C0085273,,,,,erythema infectiosum,MONDO:0006544,Erythema Infectiosum,MeSH ID:D016731,erythema infectiosum,DOID:8743,, +BMGC_DS02736,BMG_DS003547,Antiphospholipid Syndrome,UMLS ID:C0085278,,,,,antiphospholipid syndrome,MONDO:8000010,Antiphospholipid Syndrome,MeSH ID:D016736,antiphospholipid syndrome,DOID:2988,, +BMGC_DS02737,BMG_DS003548,,UMLS ID:C0085280,,,,,Alagille syndrome,MONDO:0007318,,,Alagille syndrome,DOID:9245,, +BMGC_DS02738,BMG_DS003549,Stiff-Person Syndrome,UMLS ID:C0085292,,,,,stiff-person syndrome,MONDO:0008491,Stiff-Person Syndrome,MeSH ID:D016750,Stiff-Person syndrome,DOID:13366,,OMIM ID:184850 +BMGC_DS02739,BMG_DS003550,Hepatitis E,UMLS ID:C0085293,Hepatitis E virus infection | Viral hepatitis E | Viral hepatitis type E (disorder) | Viral hepatitis type E | Hepatitis E,SNOMEDCT ID:7111000119109,,,hepatitis E virus infection,MONDO:0005788,Hepatitis E,MeSH ID:D016751,hepatitis E,DOID:4411,, +BMGC_DS02740,BMG_DS003552,Embolism and Thrombosis,UMLS ID:C0085307,,,,,,,Embolism and Thrombosis,MeSH ID:D016769,,,, +BMGC_DS02741,BMG_DS003553,Ciliophora Infections,UMLS ID:C0085308,,,,,Ciliophora infectious disease,MONDO:0005704,Ciliophora Infections,MeSH ID:D016770,,,, +BMGC_DS02742,BMG_DS003556,"Toxoplasmosis, Cerebral",UMLS ID:C0085315,,,,,cerebral toxoplasmosis,MONDO:0005697,"Toxoplasmosis, Cerebral",MeSH ID:D016781,,,, +BMGC_DS02743,BMG_DS003559,Li-Fraumeni Syndrome,UMLS ID:C0085390,,,,,Li-Fraumeni syndrome,MONDO:0018875,Li-Fraumeni Syndrome,MeSH ID:D016864,Li-Fraumeni syndrome,DOID:3012,,OMIM ID:609266 | OMIM ID:151623 +BMGC_DS02744,BMG_DS003561,Serratia Infections,UMLS ID:C0085394,,,,,,,Serratia Infections,MeSH ID:D016868,,,, +BMGC_DS02745,BMG_DS003563,Neisseriaceae Infections,UMLS ID:C0085396,,,,,,,Neisseriaceae Infections,MeSH ID:D016870,,,, +BMGC_DS02746,BMG_DS003564,Pasteurellaceae Infections,UMLS ID:C0085397,,,,,,,Pasteurellaceae Infections,MeSH ID:D016871,,,, +BMGC_DS02747,BMG_DS003565,Ehrlichiosis,UMLS ID:C0085399,Ehrlichiosis | Ehrlichiosis (disorder),SNOMEDCT ID:77361002,,,ehrlichiosis,MONDO:0016003,Ehrlichiosis,MeSH ID:D016873,ehrlichiosis,DOID:10242,ICD10 ID:A77.4, +BMGC_DS02748,BMG_DS003566,POEMS Syndrome,UMLS ID:C0085404,,,,,POEMS syndrome,MONDO:0017364,POEMS Syndrome,MeSH ID:D016878,POEMS syndrome,DOID:14039,, +BMGC_DS02749,BMG_DS003567,Microsporidiosis,UMLS ID:C0085407,Infection by Microsporidia | Microsporidiosis | Infection caused by Microsporidia | Infection caused by Microsporidia (disorder) | Infection by Microsporida | Infection by Microsporidia | Infection by Cnidosporidia | Microsporidiosis | Microsporidiasis | Infection by Microsporida (disorder),SNOMEDCT ID:699676006 | SNOMEDCT ID:61842000,Unspecified protozoal disease,ICD11 ID:1F5Z,microsporidiosis,MONDO:0005846,Microsporidiosis,MeSH ID:D016881,microsporidiosis,DOID:4271,ICD10 ID:B60.8, +BMGC_DS02750,BMG_DS003568,"Polyendocrinopathies, Autoimmune",UMLS ID:C0085409,,,,,autoimmune polyendocrinopathy,MONDO:0017278,"Polyendocrinopathies, Autoimmune",MeSH ID:D016884,autoimmune polyendocrine syndrome,DOID:14040,, +BMGC_DS02751,BMG_DS003569,Angiodysplasia,UMLS ID:C0085411,Angiodysplasia | Angiodysplasia (morphologic abnormality),SNOMEDCT ID:71072006,,,angiodysplasia,MONDO:0002322,Angiodysplasia,MeSH ID:D016888,angiodysplasia,DOID:2494,,OMIM ID:MTHU006470 +BMGC_DS02752,BMG_DS003570,Encephalitozoonosis,UMLS ID:C0085412,Infection by Encephalitozoon | Encephalitozoonosis | Infection caused by Encephalitozoon (disorder) | Infection caused by Encephalitozoon,SNOMEDCT ID:12825006,,,encephalitozoonosis,MONDO:0005743,Encephalitozoonosis,MeSH ID:D016890,encephalitozoonosis,DOID:4270,, +BMGC_DS02753,BMG_DS003571,"Polycystic Kidney, Autosomal Dominant",UMLS ID:C0085413,,,,,autosomal dominant polycystic kidney disease,MONDO:0004691,"Polycystic Kidney, Autosomal Dominant",MeSH ID:D016891,,,, +BMGC_DS02754,BMG_DS003572,"Epilepsy, Complex Partial",UMLS ID:C0085417,,,,,complex partial epilepsy,MONDO:0006710,"Epilepsy, Complex Partial",MeSH ID:D017029,complex partial epilepsy,DOID:12382,, +BMGC_DS02755,BMG_DS003573,Gram-Negative Bacterial Infections,UMLS ID:C0085423,,,,,gram-negative bacterial infections,MONDO:0021678,Gram-Negative Bacterial Infections,MeSH ID:D016905,,,, +BMGC_DS02756,BMG_DS003574,Gram-Positive Bacterial Infections,UMLS ID:C0085426,,,,,gram-positive bacterial infections,MONDO:0021679,Gram-Positive Bacterial Infections,MeSH ID:D016908,,,, +BMGC_DS02757,BMG_DS003575,"Angiomatosis, Bacillary",UMLS ID:C0085434,,,,,bacillary angiomatosis,MONDO:0000758,"Angiomatosis, Bacillary",MeSH ID:D016917,bacillary angiomatosis,DOID:0060345,, +BMGC_DS02758,BMG_DS003576,"Arthritis, Reactive",UMLS ID:C0085435,,,,,reactive arthritis,MONDO:0017376,"Arthritis, Reactive",MeSH ID:D016918,,,, +BMGC_DS02759,BMG_DS003577,"Meningitis, Cryptococcal",UMLS ID:C0085436,,,,,Cryptococcal meningitis,MONDO:0005723,"Meningitis, Cryptococcal",MeSH ID:D016919,Cryptococcal meningitis,DOID:0080159,, +BMGC_DS02760,BMG_DS003578,"Meningitis, Bacterial",UMLS ID:C0085437,,,,,bacterial meningitis,MONDO:0006670,"Meningitis, Bacterial",MeSH ID:D016920,bacterial meningitis,DOID:9470,, +BMGC_DS02761,BMG_DS003579,"Meningitis, Fungal",UMLS ID:C0085438,,,,,fungal meningitis,MONDO:0006764,"Meningitis, Fungal",MeSH ID:D016921,fungal meningitis,DOID:11608,, +BMGC_DS02762,BMG_DS003581,"Epilepsy, Frontal Lobe",UMLS ID:C0085541,,,,,frontal lobe epilepsy,MONDO:0002612,"Epilepsy, Frontal Lobe",MeSH ID:D017034,frontal lobe epilepsy,DOID:3331,, +BMGC_DS02763,BMG_DS003583,"Phenylketonuria, Maternal",UMLS ID:C0085547,,,,,maternal phenylketonuria,MONDO:0016366,"Phenylketonuria, Maternal",MeSH ID:D017042,phenylketonuria,DOID:9281,, +BMGC_DS02764,BMG_DS003584,Autosomal Recessive Polycystic Kidney Disease,UMLS ID:C0085548,,,,,autosomal recessive polycystic kidney disease,MONDO:0009889,"Polycystic Kidney, Autosomal Recessive",MeSH ID:D017044,autosomal recessive polycystic kidney disease,DOID:0110861,, +BMGC_DS02765,BMG_DS003585,Buruli Ulcer,UMLS ID:C0085568,,,,,Buruli ulcer disease,MONDO:0000327,Buruli Ulcer,MeSH ID:D054312,Buruli ulcer disease,DOID:0050456,, +BMGC_DS02766,BMG_DS003586,"Metabolic acidosis, NAG, acidifying salts",UMLS ID:C0085569,"Metabolic acidosis, NAG, acidifying salts | Hyperchloremic acidosis | Hyperchloraemic acidosis | Metabolic acidosis, normal anion gap, acidifying salts | Metabolic acidosis, normal anion gap, acidifying salts (disorder)",SNOMEDCT ID:18104000,,,,,,,,,, +BMGC_DS02767,BMG_DS003588,Palindromic rheumatism,UMLS ID:C0085574,(Palindromic rheumatism) or (intermittent joint effusion) | Palindromic rheumatism | Intermittent joint effusion | Intermittent hydrarthrosis | Hench - Rosenberg syndrome | (Palindromic rheumatism) or (intermittent joint effusion) (disorder) | Palindromic rheumatism | Hench-Rosenberg syndrome | Palindromic rheumatism (disorder),SNOMEDCT ID:202455001 | SNOMEDCT ID:50442003,Palindromic rheumatism,ICD11 ID:FA27.2,palindromic rheumatism,MONDO:0001332,,MeSH ID:C538103,palindromic rheumatism,DOID:1166,ICD10 ID:M12.3, +BMGC_DS02768,BMG_DS003589,Iron-Refractory Iron Deficiency Anemia,UMLS ID:C0085576,,,,,IRIDA syndrome,MONDO:0008788,,MeSH ID:C562385,microcytic anemia,DOID:11252,,OMIM ID:206200 +BMGC_DS02769,BMG_DS003590,Normocytic anemia,UMLS ID:C0085577,Normocytic anaemia | Normocytic anemia | Normocytic anemia (disorder),SNOMEDCT ID:300980002,,,normocytic anemia,MONDO:0004139,,,normocytic anemia,DOID:720,,OMIM ID:MTHU039167 +BMGC_DS02770,BMG_DS003591,Thalassemia Minor,UMLS ID:C0085578,,,,,,,beta-Thalassemia,MeSH ID:D017086,,,, +BMGC_DS02771,BMG_DS003592,Essential Hypertension,UMLS ID:C0085580,,,,,essential hypertension,MONDO:0001134,Essential Hypertension,MeSH ID:D000075222,essential hypertension,DOID:10825,, +BMGC_DS02772,BMG_DS003594,Retrobulbar Neuritis,UMLS ID:C0085582,,,,,retrobulbar neuritis,MONDO:0024335,Optic Neuritis,MeSH ID:D009902,,,, +BMGC_DS02773,BMG_DS003595,Choreoathetosis,UMLS ID:C0085583,Choreoathetosis | Choreoathetosis (disorder),SNOMEDCT ID:43105007,,,,,,,,,,OMIM ID:MTHU001903 +BMGC_DS02774,BMG_DS003596,Encephalopathies,UMLS ID:C0085584,,,,,,,Brain Diseases,MeSH ID:D001927,brain disease,DOID:936,, +BMGC_DS02775,BMG_DS003598,Liver Failure,UMLS ID:C0085605,,,,,liver failure,MONDO:0100192,Liver Failure,MeSH ID:D017093,,,,OMIM ID:MTHU072923 +BMGC_DS02776,BMG_DS003599,Ventricular arrhythmia,UMLS ID:C0085612,Ventricular arrhythmia | Ventricular arrhythmia (disorder),SNOMEDCT ID:44103008,,,,,,,,,,OMIM ID:MTHU006286 +BMGC_DS02777,BMG_DS003600,First degree atrioventricular block,UMLS ID:C0085614,"First degree atrioventricular block | First degree heart block | Incomplete atrioventricular block, first degree | First degree atrioventricular block (disorder) | (Prolonged P-R interval) or (first degree AV block) | Prolonged P-R interval | Prolonged PR interval | First degree atrioventricular block | (Prolonged P-R interval) or (first degree AV block) (disorder) | First degree atrioventricular block | First degree atrioventricular block (disorder)",SNOMEDCT ID:270492004 | SNOMEDCT ID:195041009 | SNOMEDCT ID:14256006,,,first-degree atrioventricular block,MONDO:0000466,,,,,, +BMGC_DS02778,BMG_DS003601,Right bundle branch block,UMLS ID:C0085615,Right bundle branch block | Right bundle branch block (disorder) | Right bundle branch block | Right bundle branch block (disorder) | Right fascicular block | RBBB - Right bundle branch block,SNOMEDCT ID:195064006 | SNOMEDCT ID:195055001 | SNOMEDCT ID:155358002 | SNOMEDCT ID:59118001,,,,,,,,,,OMIM ID:MTHU036516 +BMGC_DS02779,BMG_DS003602,Monoplegia,UMLS ID:C0085622,Monoplegia | Diplegia | Paralytic syndromes NOS | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) (disorder) | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) | Paralytic syndromes NOS | Diplegia | Monoplegia | (Paralytic syndromes NOS) or (diplegia) or (monoplegia) (disorder) | Monoplegia | Monoplegia (disorder),SNOMEDCT ID:267697002 | SNOMEDCT ID:155034007 | SNOMEDCT ID:86022000,,,,,Hemiplegia,MeSH ID:D006429,,,, +BMGC_DS02780,BMG_DS003604,,UMLS ID:C0085637,,,,,oculogyric crisis,MONDO:0000483,,,,,, +BMGC_DS02781,BMG_DS003605,Livedo Reticularis,UMLS ID:C0085642,,,,,livedo reticularis,MONDO:0044037,Livedo Reticularis,MeSH ID:D054068,,,, +BMGC_DS02782,BMG_DS003606,Purpura Fulminans,UMLS ID:C0085650,,,,,purpura fulminans,MONDO:0000809,Purpura Fulminans,MeSH ID:D055665,purpura fulminans,DOID:0060538,, +BMGC_DS02783,BMG_DS003607,Pyoderma Gangrenosum,UMLS ID:C0085652,,,,,pyoderma gangrenosum,MONDO:0018824,Pyoderma Gangrenosum,MeSH ID:D017511,pyoderma gangrenosum,DOID:8553,, +BMGC_DS02784,BMG_DS003608,,UMLS ID:C0085653,,,,,pyogenic granuloma,MONDO:0022096,,,,,, +BMGC_DS02785,BMG_DS003609,Polymyositis,UMLS ID:C0085655,Polymyositis | Neuromyositis | PM - Polymyositis | Polymyositis (disorder) | Polymyositis | Polymyositis (disorder),SNOMEDCT ID:31384009 | SNOMEDCT ID:156457001,"Polymyositis, unspecified",ICD11 ID:4A41.1Z,polymyositis,MONDO:0019127,Polymyositis,MeSH ID:D017285,polymyositis,DOID:0080745,ICD10 ID:M33.2,OMIM ID:MTHU037341 +BMGC_DS02786,BMG_DS003610,Nummular eczema,UMLS ID:C0085656,(Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) | Contact dermatitis NOS | Nummular eczema | Discoid eczema | (Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) (disorder) | Nummular eczema | Contact dermatitis NOS | Discoid eczema | (Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) | (Contact dermatitis NOS) or (discoid eczema) or (nummular eczema) (disorder) | Nummular eczema | Nummular dermatitis | Nummular eczematous dermatitis | Nummular eczema (disorder) | Discoid eczema,SNOMEDCT ID:156348006 | SNOMEDCT ID:267846008 | SNOMEDCT ID:81418003,,,,,,,,,, +BMGC_DS02787,BMG_DS003619,,UMLS ID:C0085669,,,,,acute leukemia,MONDO:0010643,,,acute leukemia,DOID:12603,, +BMGC_DS02788,BMG_DS003620,Alcoholic Neuropathy,UMLS ID:C0085677,,,,,alcoholic polyneuropathy,MONDO:0006645,Alcoholic Neuropathy,MeSH ID:D020269,alcoholic neuropathy,DOID:14183,, +BMGC_DS02789,BMG_DS003621,Hyperchloremia,UMLS ID:C0085679,Hyperchloremia | Hyperchloraemia | Hyperchloremia (disorder),SNOMEDCT ID:74450001,"Other specified disorders of fluid, electrolyte or acidbase balance",ICD11 ID:5C7Y,,,,,,,ICD10 ID:E87.8,OMIM ID:MTHU069313 +BMGC_DS02790,BMG_DS003622,Hypochloremia (disorder),UMLS ID:C0085680,Hypochloremia | Hypochloraemia | Hypochloremia (disorder),SNOMEDCT ID:10399008,,,,,,,,,, +BMGC_DS02791,BMG_DS003623,Hyperphosphatemia (disorder),UMLS ID:C0085681,Hyperphosphatemia | Hyperphosphataemia | Hyperphosphatemia (disorder),SNOMEDCT ID:20165001,,,hyperphosphatemia,MONDO:0000328,,,hyperphosphatemia,DOID:0050459,, +BMGC_DS02792,BMG_DS003624,Hypophosphatemia,UMLS ID:C0085682,Hypophosphatemia | Hypophosphataemia | Hypophosphatemia (disorder),SNOMEDCT ID:4996001,,,hypophosphatemia,MONDO:0000313,Hypophosphatemia,MeSH ID:D017674,hypophosphatemia,DOID:0050336,, +BMGC_DS02793,BMG_DS003625,Internal hordeolum,UMLS ID:C0085690,Internal hordeolum (disorder) | Internal hordeolum | Hordeolum internum | Infected chalazion | Infected cyst of meibomian gland | Infected meibomian cyst | Infection of meibomian gland | Meibomian adenitis | Internal hordeolum (disorder) | Internal hordeolum | Chalazion,SNOMEDCT ID:414521009 | SNOMEDCT ID:397514009,,,internal hordeolum,MONDO:0004917,,,internal hordeolum,DOID:9908,, +BMGC_DS02794,BMG_DS003629,Chronic gastritis,UMLS ID:C0085695,Chronic gastritis | Chronic gastritis (disorder) | CG - Chronic gastritis,SNOMEDCT ID:8493009,,,chronic gastritis,MONDO:0005001,,,,,,OMIM ID:MTHU001681 +BMGC_DS02795,BMG_DS003631,Chronic pyelonephritis,UMLS ID:C0085697,Chronic pyelonephritis | Chronic pyelonephritis (disorder) | (Chronic pyelonephritis) or (chronic pyonephrosis) | Chronic pyelonephritis | Chronic pyonephrosis | Pyonephrosis - chronic | (Chronic pyelonephritis) or (chronic pyonephrosis) (disorder) | Chronic pyelonephritis | Chronic pyelonephritis (disorder) | CPN - Chronic pyelonephritis | Chronic pyelonephritis | Chronic pyonephrosis | Pyonephrosis - chronic | (Chronic pyelonephritis) or (chronic pyonephrosis) | (Chronic pyelonephritis) or (chronic pyonephrosis) (disorder),SNOMEDCT ID:123293005 | SNOMEDCT ID:155861006 | SNOMEDCT ID:63302006 | SNOMEDCT ID:266619007,,,chronic pyelonephritis,MONDO:0001110,,,chronic pyelonephritis,DOID:1076,,OMIM ID:MTHU036826 +BMGC_DS02796,BMG_DS003633,Chondromalacia,UMLS ID:C0085700,Chondromalacia | Chondromalacia (disorder),SNOMEDCT ID:63198006,"Chondromalacia, unspecified",ICD11 ID:FB82.0Z,obsolete cartilage disease | chondromalacia,MONDO:0005569;MONDO:0002342,Cartilage Diseases,MeSH ID:D002357,chondromalacia,DOID:2557,ICD10 ID:M94.2,OMIM ID:MTHU059240 +BMGC_DS02797,BMG_DS003635,Mendelson Syndrome,UMLS ID:C0085740,,,,,,,"Pneumonia, Aspiration",MeSH ID:D011015,,,, +BMGC_DS02798,BMG_DS003637,,UMLS ID:C0085750,,,,,breast adenosis,MONDO:0003725,,,microglandular adenosis,DOID:5998,, +BMGC_DS02799,BMG_DS003638,,UMLS ID:C0085762,,,,,alcohol abuse,MONDO:0002046,,,alcohol use disorder,DOID:1574,, +BMGC_DS02800,BMG_DS003640,Hamman-Rich syndrome,UMLS ID:C0085786,Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) | Idiopath. fibrosing alveolitis | Alveolitis-idiopath. fibrosing | Fibrosing alveolitis-idiopath. | Hamman-Rich syndrome | Idiopathic fibrosing alveolitis | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) (disorder) | Cryptogenic fibrosing alveolitis | Hamman-Rich syndrome | Idiopathic fibrosing alveolitis | Hamman - Rich syndrome | Fibrosing alveolitis: [idiopathic] or [cryptogenic]) or (Hamman - Rich syndrome) | Fibrosing alveolitis: [idiopathic] or [cryptogenic]) or (Hamman - Rich syndrome) (disorder) | Usual interstitial pneumonitis | Hamman-Rich syndrome | Usual interstitial pneumonitis (disorder) | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) | Idiopath. fibrosing alveolitis | Hamman-Rich syndrome | Fibrosing alveolitis-idiopath. | Alveolitis-idiopath. fibrosing | Idiopathic fibrosing alveolitis | Idiopath. fibrosing alveolitis (& Hamman-Rich syndrome) (disorder) | Idiopathic fibrosing alveolitis | Idiopathic interstitial pneumonia | Idiopathic fibrosing alveolitis (disorder) | Hamman-Rich syndrome | Hamman-Rich disease | Acute interstitial pneumonia | Acute interstitial pneumonia (disorder),SNOMEDCT ID:155624004 | SNOMEDCT ID:196123009 | SNOMEDCT ID:233721005 | SNOMEDCT ID:266410004 | SNOMEDCT ID:45157009 | SNOMEDCT ID:129459004,,,,,,,idiopathic interstitial pneumonia,DOID:2797,ICD10 ID:J84.114, +BMGC_DS02801,BMG_DS003642,Anguilluliasis,UMLS ID:C0085810,,,,,,,Strongyloidiasis,MeSH ID:D013322,,,, +BMGC_DS02802,BMG_DS003643,Antibiotic-Associated Colitis,UMLS ID:C0085819,,,,,,,"Enterocolitis, Pseudomembranous",MeSH ID:D004761,Clostridium difficile colitis,DOID:0060185,, +BMGC_DS02803,BMG_DS003644,Polyglandular Type I Autoimmune Syndrome,UMLS ID:C0085859,,,,,autoimmune polyendocrine syndrome type 1,MONDO:0009411,"Polyendocrinopathies, Autoimmune",MeSH ID:D016884,,,,OMIM ID:240300 +BMGC_DS02804,BMG_DS003645,"Autoimmune Syndrome Type II, Polyglandular",UMLS ID:C0085860,,,,,autoimmune polyendocrinopathy type 2,MONDO:0010012,"Polyendocrinopathies, Autoimmune",MeSH ID:D016884,,,,OMIM ID:269200 +BMGC_DS02805,BMG_DS003647,Bouillaud Disease,UMLS ID:C0085916,,,,,,,Rheumatic Heart Disease,MeSH ID:D012214,rheumatic heart disease,DOID:0050827,, +BMGC_DS02806,BMG_DS003648,Brachial Neuralgia,UMLS ID:C0085920,,,,,,,Brachial Plexus Neuritis,MeSH ID:D020968,,,, +BMGC_DS02807,BMG_DS003652,"Eczema, Infantile",UMLS ID:C0086196,,,,,,,"Dermatitis, Atopic",MeSH ID:D003876,,,, +BMGC_DS02808,BMG_DS003653,Enterobiasis,UMLS ID:C0086227,(Threadworms &/or enterobiasis) or (pinworm) | Threadworms | Threadworms - enterobiasis | Enterobiasis | Enterobiasis - threadworm | Pinworm | (Threadworms &/or enterobiasis) or (pinworm) (disorder) | (Threadworms &/or enterobiasis) or (pinworm) | Pinworm | Threadworms - enterobiasis | Threadworms | Enterobiasis - threadworm | Enterobiasis | (Threadworms &/or enterobiasis) or (pinworm) (disorder) | Enterobiasis | Oxyuriasis | Pinworm disease | Enterobiasis - threadworm | Pinworm infection | Threadworm infection | Enterobiosis | Enterobiasis (disorder) | Infection by Enterobius vermicularis | Infection by Enterobius vermicularis (disorder),SNOMEDCT ID:266221005 | SNOMEDCT ID:154412007 | SNOMEDCT ID:266162007 | SNOMEDCT ID:19722001,,,enterobiasis,MONDO:0005746,Enterobiasis,MeSH ID:D017229,,,ICD10 ID:B80, +BMGC_DS02809,BMG_DS003654,"Epilepsy, Atonic",UMLS ID:C0086236,,,,,,,"Epilepsy, Generalized",MeSH ID:D004829,,,, +BMGC_DS02810,BMG_DS003655,"Epilepsy, Cryptogenic",UMLS ID:C0086237,,,,,,,Epilepsy,MeSH ID:D004827,,,, +BMGC_DS02811,BMG_DS003657,"Epilepsy, Simple Partial",UMLS ID:C0086240,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS02812,BMG_DS003658,"Epilepsy, Tonic",UMLS ID:C0086241,,,,,,,"Epilepsy, Generalized",MeSH ID:D004829,,,, +BMGC_DS02813,BMG_DS003659,Essential Polyarteritis,UMLS ID:C0086254,,,,,,,Polyarteritis Nodosa,MeSH ID:D010488,,,, +BMGC_DS02814,BMG_DS003660,Gonadotropin-Resistant Ovary Syndrome,UMLS ID:C0086367,,,,,,,Primary Ovarian Insufficiency,MeSH ID:D016649,,,, +BMGC_DS02815,BMG_DS003661,Granuloma Gangraenescens,UMLS ID:C0086370,,,,,,,"Granuloma, Lethal Midline",MeSH ID:D006103,,,, +BMGC_DS02816,BMG_DS003662,Hereditary Sensory Radicular Neuropathy,UMLS ID:C0086405,,,,,,,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory neuropathy,DOID:0050548,, +BMGC_DS02817,BMG_DS003663,Hurler-Scheie Syndrome,UMLS ID:C0086431,,,,,Hurler-Scheie syndrome,MONDO:0011759,Mucopolysaccharidosis I,MeSH ID:D008059,mucopolysaccharidosis Ih/s,DOID:0111389,,OMIM ID:607015 +BMGC_DS02818,BMG_DS003664,"Hyalinosis, Segmental Glomerular",UMLS ID:C0086432,,,,,,,"Glomerulosclerosis, Focal Segmental",MeSH ID:D005923,,,, +BMGC_DS02819,BMG_DS003665,Hypogammaglobulinemia,UMLS ID:C0086438,Hypogammaglobulinemia | Hypogammaglobulinaemia | Hypogammaglobulinemia (finding),SNOMEDCT ID:119250001,,,,,Agammaglobulinemia,MeSH ID:D000361,agammaglobulinemia,DOID:2583,,OMIM ID:MTHU001684 +BMGC_DS02820,BMG_DS003666,Idiopathic Membranous Glomerulonephritis,UMLS ID:C0086445,,,,,idiopathic membranous glomerulonephritis,MONDO:0013860,"Glomerulonephritis, Membranous",MeSH ID:D015433,,,,OMIM ID:614692 +BMGC_DS02821,BMG_DS003667,Industrial Dermatosis,UMLS ID:C0086457,,,,,,,"Dermatitis, Occupational",MeSH ID:D009783,,,, +BMGC_DS02822,BMG_DS003669,"Leishmaniasis, New World",UMLS ID:C0086540,,,,,,,"Leishmaniasis, Cutaneous",MeSH ID:D016773,,,, +BMGC_DS02823,BMG_DS003671,Cataract,UMLS ID:C0086543,Cataract | Cataract (disorder) | Cataract | Lenticular opacity | Cataract (disorder) | Lens opacity | Cataract | Cataract (morphologic abnormality),SNOMEDCT ID:155126003 | SNOMEDCT ID:62795009 | SNOMEDCT ID:193570009 | SNOMEDCT ID:128306009,,,cataract,MONDO:0005129,Cataract,MeSH ID:D002386,,,,OMIM ID:MTHU004637 +BMGC_DS02824,BMG_DS003674,Marasmus,UMLS ID:C0086588,Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Dietary deficiency | Marasmus | Insufficiency - dietary | Nutritional deficiencies | Deficiency -nutritional | Kwashiorkor | Kwashiokor | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder) | Kwashiokor | Deficiency -nutritional | Marasmus | Kwashiorkor | Nutritional deficiencies | Insufficiency - dietary | Dietary deficiency | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) | Nutritional deficiencies: (& [dietary] or [kwashiokor] or [marasmus]) (disorder),SNOMEDCT ID:267495004 | SNOMEDCT ID:154730001,,,marasmus,MONDO:0006848,Protein-Energy Malnutrition,MeSH ID:D011502,marasmus,DOID:12328,, +BMGC_DS02825,BMG_DS003675,Minamata Disease,UMLS ID:C0086626,,,,,Minamata disease,MONDO:0024251,"Mercury Poisoning, Nervous System",MeSH ID:D020262,,,, +BMGC_DS02826,BMG_DS003676,Mucopolysaccharidosis Type IIIA,UMLS ID:C0086647,,,,,mucopolysaccharidosis type 3A,MONDO:0009655,Mucopolysaccharidosis III,MeSH ID:D009084,mucopolysaccharidosis type IIIA,DOID:0111395,,OMIM ID:252900 +BMGC_DS02827,BMG_DS003677,Mucopolysaccharidosis Type IIIB,UMLS ID:C0086648,,,,,mucopolysaccharidosis type 3B,MONDO:0009656,Mucopolysaccharidosis III,MeSH ID:D009084,mucopolysaccharidosis type IIIB,DOID:0111394,,OMIM ID:252920 +BMGC_DS02828,BMG_DS003678,MPS III C,UMLS ID:C0086649,,,,,mucopolysaccharidosis type 3C,MONDO:0009657,Mucopolysaccharidosis III,MeSH ID:D009084,mucopolysaccharidosis type IIIC,DOID:0111393,,OMIM ID:252930 +BMGC_DS02829,BMG_DS003679,MPS III D,UMLS ID:C0086650,,,,,mucopolysaccharidosis type 3D,MONDO:0009658,Mucopolysaccharidosis III,MeSH ID:D009084,mucopolysaccharidosis type IIID,DOID:0111402,,OMIM ID:252940 +BMGC_DS02830,BMG_DS003680,"Mucopolysaccharidosis, MPS-IV-A",UMLS ID:C0086651,"Mucopolysaccharidosis, MPS-IV-A | Morquio's syndrome, classic form | N-acetylgalactosamine-6-sulfatase deficiency | Morquio A syndrome | N-acetylgalactosamine-6-sulphatase deficiency | Galactose-6-sulphatase deficiency | Galactosamine-6-sulphatase deficiency | Galactose-6-sulfatase deficiency | Galactosamine-6-sulfatase deficiency | MPS IV-A-Mucopolysaccharidosis IV-A | Mucopolysaccharidosis IV-A | Morquio syndrome A | Mucopolysaccharidosis IV-A (disorder)",SNOMEDCT ID:7259005,,,mucopolysaccharidosis type 4A,MONDO:0009659,,,mucopolysaccharidosis IVA,DOID:0111391,,OMIM ID:253000 +BMGC_DS02831,BMG_DS003681,Mucopolysaccharidosis type IVB,UMLS ID:C0086652,"Mucopolysaccharidosis, MPS-IV-B | MPS IV-B - Mucopolysaccharidosis IV-B | Morquio B syndrome | Morquio syndrome B | Mucopolysaccharidosis IV-B | Mucopolysaccharidosis type IVB | Morquio-like syndrome | Mucopolysaccharidosis type IVB (disorder) | Mucopolysaccharidosis type IVB | Mucopolysaccharidosis type IVB (disorder)",SNOMEDCT ID:238044004 | SNOMEDCT ID:254075008,,,mucopolysaccharidosis type 4B,MONDO:0009660,,,mucopolysaccharidosis type IVB,DOID:0111392,,OMIM ID:253010 +BMGC_DS02832,BMG_DS003682,,UMLS ID:C0086664,,,,,,,,,myelomeningocele,DOID:0060326,, +BMGC_DS02833,BMG_DS003683,Myocardial Preinfarction Syndrome,UMLS ID:C0086666,,,,,,,"Angina, Unstable",MeSH ID:D000789,,,, +BMGC_DS02834,BMG_DS003684,,UMLS ID:C0086692,,,,,benign neoplasm,MONDO:0005165,,,,,, +BMGC_DS02835,BMG_DS003685,Osteoarthrosis Deformans,UMLS ID:C0086743,,,,,,,Osteoarthritis,MeSH ID:D010003,,,, +BMGC_DS02836,BMG_DS003686,,UMLS ID:C0086768,,,,,pancreatic cholera,MONDO:0004058,,,pancreatic cholera,DOID:6977,, +BMGC_DS02837,BMG_DS003687,,UMLS ID:C0086774,,,,,paroxysmal cold hemoglobinuria,MONDO:0019533,,,paroxysmal nocturnal hemoglobinuria,DOID:0060284,, +BMGC_DS02838,BMG_DS003689,Pfaundler-Hurler Syndrome,UMLS ID:C0086795,,,,,Hurler syndrome,MONDO:0011758,Mucopolysaccharidosis I,MeSH ID:D008059,mucopolysaccharidosis Ih,DOID:0111390,,OMIM ID:607014 +BMGC_DS02839,BMG_DS003690,Plantar Ulcer,UMLS ID:C0086815,,,,,,,Foot Ulcer,MeSH ID:D016523,,,, +BMGC_DS02840,BMG_DS003691,Pseudopelade,UMLS ID:C0086873,Pseudopelade | Pseudopelade (disorder) | Alopecia cicatrisata | Pseudopelade | Pseudopelade of Brocq | Cicatricial alopecia | Scarring alopecia | Alopecia cicatrisata (disorder) | Pseudopelade | Pseudopelade (disorder) | Pseudopelade of Brocq,SNOMEDCT ID:201151002 | SNOMEDCT ID:31471004 | SNOMEDCT ID:238731001,Scarring alopecia due to other specified cause,ICD11 ID:ED70.5Y,pseudopelade of Brocq,MONDO:0015261,Alopecia,MeSH ID:D000505,,,ICD10 ID:L66.0, +BMGC_DS02841,BMG_DS003692,Rheumatoid Purpura,UMLS ID:C0086922,,,,,,,IgA Vasculitis,MeSH ID:D011695,,,, +BMGC_DS02842,BMG_DS003696,Sicca Syndrome,UMLS ID:C0086981,,,,,,,Sjogren's Syndrome,MeSH ID:D012859,Sjogren's syndrome,DOID:12894,, +BMGC_DS02843,BMG_DS003697,"Ataxia, Spinocerebellar",UMLS ID:C0087012,,,,,,,Spinocerebellar Ataxias,MeSH ID:D020754,autosomal dominant cerebellar ataxia,DOID:1441,, +BMGC_DS02844,BMG_DS003698,Juvenile-Onset Still Disease,UMLS ID:C0087031,,,,,,,"Arthritis, Juvenile",MeSH ID:D001171,,,, +BMGC_DS02845,BMG_DS003701,Acute dacryoadenitis,UMLS ID:C0149505,Acute dacryoadenitis | Acute dacryoadenitis (disorder),SNOMEDCT ID:2589008,,,acute dacryoadenitis,MONDO:0004812,,,acute dacryoadenitis,DOID:952,ICD10 ID:H04.01, +BMGC_DS02846,BMG_DS003702,Chronic dacryocystitis,UMLS ID:C0149506,Chronic inflammation of lacrimal passage (& [dacryocystitis]) | Dacryocystitis - chronic | Chronic inflammation of lacrimal passage | Chronic dacryocystitis | Chronic inflammation of lacrimal passage (& [dacryocystitis]) (disorder) | Chronic dacryocystitis | Chronic dacryocystitis (disorder),SNOMEDCT ID:193990009 | SNOMEDCT ID:84627005,,,chronic dacryocystitis,MONDO:0004925,,,chronic dacryocystitis,DOID:9937,ICD10 ID:H04.41, +BMGC_DS02847,BMG_DS003703,Orbital Cellulitis,UMLS ID:C0149507,,,,,orbital cellulitis,MONDO:0006881,Orbital Cellulitis,MeSH ID:D054517,orbital cellulitis,DOID:11234,, +BMGC_DS02848,BMG_DS003705,Acute sinusitis,UMLS ID:C0149512,Acute sinusitis | Acute inflammation of nasal sinus | Acute sinusitis (disorder) | Acute inflammation of sinus | Acute infection of sinus | Acute sinusitis | Acute sinusitis (disorder) | Sinusitis (& acute) | Acute sinusitis | Sinusitis | Sinusitis (& acute) (disorder),SNOMEDCT ID:15805002 | SNOMEDCT ID:155498004 | SNOMEDCT ID:195649005,,,,,,,sinusitis,DOID:0050127,ICD10 ID:J01, +BMGC_DS02849,BMG_DS003706,Acute tracheitis,UMLS ID:C0149513,Acute tracheitis | Acute tracheitis (disorder),SNOMEDCT ID:26650005 | SNOMEDCT ID:155507000,Acute tracheitis,ICD11 ID:CA05.1,,,,,tracheitis,DOID:9392,ICD10 ID:J04.1, +BMGC_DS02850,BMG_DS003707,Acute bronchitis,UMLS ID:C0149514,Acute: [bronchitis] or [chest infections] or [tracheobronchitis] | Acute chest infections | Bronchitis - acute | Acute tracheobronchitis | Acute bronchitis | Tracheobronchitis - acute | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] (disorder) | Acute bronchitis | Acute bronchitis (disorder) | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] | Acute chest infections | Acute tracheobronchitis | Bronchitis - acute | Acute bronchitis | Tracheobronchitis - acute | Acute: [bronchitis] or [chest infections] or [tracheobronchitis] (disorder) | Acute bronchitis (& wheezy) | Subacute bronchitis | Acute wheezy bronchitis | Acute bronchitis | Acute bronchitis (& wheezy) (disorder),SNOMEDCT ID:155512004 | SNOMEDCT ID:10509002 | SNOMEDCT ID:266380005 | SNOMEDCT ID:195713004,,,,,,,bronchitis,DOID:6132,ICD10 ID:J20, +BMGC_DS02851,BMG_DS003708,Chronic sinusitis,UMLS ID:C0149516,Chronic sinusitis | Chronic sinusitis (disorder) | Chronic sinusitis | Chronic sinusitis (disorder) | Chronic infection of sinus,SNOMEDCT ID:155525007 | SNOMEDCT ID:40055000,,,chronic rhinosinusitis,MONDO:0006031,,,,,ICD10 ID:J32,OMIM ID:MTHU037623 +BMGC_DS02852,BMG_DS003709,Chronic tonsillitis,UMLS ID:C0149517,Chronic tonsillitis | Chronic tonsillitis (disorder) | Chronic adenoiditis | Chronic tonsillitis | (Chronic tonsillitis) or (chronic adenoiditis) | (Chronic tonsillitis) or (chronic adenoiditis) (disorder),SNOMEDCT ID:155530006 | SNOMEDCT ID:90979004 | SNOMEDCT ID:195794009,,,,,,,tonsillitis,DOID:10456,ICD10 ID:J35.01, +BMGC_DS02853,BMG_DS003711,Chronic Persistent Hepatitis,UMLS ID:C0149519,,,,,,,"Hepatitis, Chronic",MeSH ID:D006521,hepatitis,DOID:2237,, +BMGC_DS02854,BMG_DS003713,"Pancreatitis, Chronic",UMLS ID:C0149521,,,,,chronic pancreatitis,MONDO:0005003,"Pancreatitis, Chronic",MeSH ID:D050500,,,, +BMGC_DS02855,BMG_DS003715,Acute cystitis,UMLS ID:C0149523,Acute cystitis | Acute cystitis (disorder) | Acute recurrent cystitis | Recurrent acute cystitis | Acute cystitis | Acute cystitis (& [recurrent]) | Acute cystitis (& [recurrent]) (disorder) | Acute cystitis (& [recurrent]) | Acute cystitis | Acute recurrent cystitis | Recurrent acute cystitis | Acute cystitis (& [recurrent]) (disorder),SNOMEDCT ID:68226007 | SNOMEDCT ID:266628008 | SNOMEDCT ID:197833009 | SNOMEDCT ID:155883005,Acute | Infectious cystitis,ICD11 ID:XT5R | ICD11 ID:GC00.1,acute cystitis,MONDO:0001650,,,acute cystitis,DOID:13148,ICD10 ID:N30.0, +BMGC_DS02856,BMG_DS003717,Calculus of prostate,UMLS ID:C0149525,Calculus of prostate | Calculus of prostate (disorder) | Calculus of prostate | Prostatic stone | Prostatic lithiasis | Stone of prostate | Calculus of prostate (disorder),SNOMEDCT ID:155934005 | SNOMEDCT ID:85324003,Calculus of prostate,ICD11 ID:GA91.3,prostate calculus,MONDO:0001776,,,prostate calculus,DOID:13689,ICD10 ID:N42.0, +BMGC_DS02857,BMG_DS003718,Allergic urticaria,UMLS ID:C0149526,Allergic urticaria | Allergic urticaria (disorder) | Urticaria: [allergic] or [drug induced] | Drug induced urticaria | Allergic urticaria | Urticaria: [allergic] or [drug induced] (disorder),SNOMEDCT ID:40178009 | SNOMEDCT ID:156428000 | SNOMEDCT ID:201260002,Skin disease of unspecified nature,ICD11 ID:EM0Z,allergic urticaria,MONDO:0006526,,,allergic urticaria,DOID:10612,ICD10 ID:L50.0, +BMGC_DS02858,BMG_DS003719,Congenital heart block,UMLS ID:C0149530,Congenital heart block | Congenital heart block (disorder),SNOMEDCT ID:204381004 | SNOMEDCT ID:46619002 | SNOMEDCT ID:156924006,Other specified structural developmental anomaly of heart or great vessels,ICD11 ID:LA8Y,congenital heart block,MONDO:0009326,,MeSH ID:C535758,congenital heart block,DOID:990,ICD10 ID:Q24.6,OMIM ID:234700 +BMGC_DS02859,BMG_DS003721,"Neurogenic Urinary Bladder, Atonic",UMLS ID:C0149622,,,,,obsolete neurogenic bladder,MONDO:0001445,"Urinary Bladder, Neurogenic",MeSH ID:D001750,,,, +BMGC_DS02860,BMG_DS003725,,UMLS ID:C0149640,,,,,cecum carcinoma,MONDO:0006029,,,cecum carcinoma,DOID:1519,, +BMGC_DS02861,BMG_DS003726,Cervical lymphadenitis,UMLS ID:C0149642,Cervical lymphadenitis | Cervical adenitis | Cervical lymphadenitis (disorder),SNOMEDCT ID:3502005,,,cervical lymphadenitis,MONDO:0003067,,,cervical adenitis,DOID:4637,, +BMGC_DS02862,BMG_DS003728,Cholesterol Embolism,UMLS ID:C0149649,,,,,cholesterol embolism,MONDO:0005568,"Embolism, Cholesterol",MeSH ID:D017700,cholesterol embolism,DOID:1461,, +BMGC_DS02863,BMG_DS003731,,UMLS ID:C0149654,,,,,conduct disorder,MONDO:0005352,,,conduct disorder,DOID:12995,, +BMGC_DS02864,BMG_DS003732,Disorder of carbohydrate metabolism,UMLS ID:C0149670,Disorder of carbohydrate metabolism | Disorder of carbohydrate metabolism (disorder),SNOMEDCT ID:20957000,,,carbohydrate metabolism disease,MONDO:0037792,,,carbohydrate metabolic disorder,DOID:2978,, +BMGC_DS02865,BMG_DS003733,Epstein-Barr Virus Infections,UMLS ID:C0149678,,,,,Epstein-Barr virus infection,MONDO:0005111,Epstein-Barr Virus Infections,MeSH ID:D020031,Epstein-Barr virus infectious disease,DOID:2938,, +BMGC_DS02866,BMG_DS003735,Gingivostomatitis,UMLS ID:C0149704,(Chronic gingivitis) or (gingivostomatitis) | Gingivostomatitis | Chronic gingivitis | (Chronic gingivitis) or (gingivostomatitis) (disorder) | Gingivostomatitis | Gingivostomatitis (disorder),SNOMEDCT ID:155644005 | SNOMEDCT ID:266490003 | SNOMEDCT ID:20607006,,,,,,,,,,OMIM ID:MTHU070633 +BMGC_DS02867,BMG_DS003736,Left Ventricular Hypertrophy,UMLS ID:C0149721,,,,,,,"Hypertrophy, Left Ventricular",MeSH ID:D017379,,,, +BMGC_DS02868,BMG_DS003737,Lower respiratory tract infection,UMLS ID:C0149725,Lower respiratory tract infection | Lower respiratory infection | Chest cold | Lower respiratory tract infection (disorder) | LRTI - Lower respiratory tract infection | Respiratory tract infection (& [acute lower] or [lower]) | Lower respiratory tract infection | RTI - Respiratory tract infection | Acute lower respiratory tract infection | Respiratory tract infection | Lower resp tract infection | Respiratory tract infection (& [acute lower] or [lower]) (disorder),SNOMEDCT ID:50417007 | SNOMEDCT ID:195745009,,,,,,,,,, +BMGC_DS02869,BMG_DS003738,Oral Ulcer,UMLS ID:C0149745,,,,,,,Oral Ulcer,MeSH ID:D019226,,,, +BMGC_DS02870,BMG_DS003740,"Fasciitis, Plantar",UMLS ID:C0149756,,,,,plantar fasciitis,MONDO:0004833,"Fasciitis, Plantar",MeSH ID:D036981,plantar fasciitis,DOID:9600,, +BMGC_DS02871,BMG_DS003746,Spontaneous pneumothorax,UMLS ID:C0149781,Spontaneous pneumothorax | Spontaneous pneumothorax (disorder),SNOMEDCT ID:155610003 | SNOMEDCT ID:80423007,,,,,,,,,,OMIM ID:MTHU018164 +BMGC_DS02872,BMG_DS003747,,UMLS ID:C0149782,,,,,squamous cell lung carcinoma,MONDO:0005097,,,lung squamous cell carcinoma,DOID:3907,, +BMGC_DS02873,BMG_DS003754,Hypertrophy of adenoids,UMLS ID:C0149825,Hypertrophy of adenoids | Enlargement of adenoids | Adenoidal hypertrophy | Adenoidal enlargement | Hypertrophy of adenoids (disorder),SNOMEDCT ID:111591002,Hypertrophy of adenoids,ICD11 ID:CA0F.1,,,,,adenoid hypertrophy,DOID:0060311,ICD10 ID:J35.2, +BMGC_DS02874,BMG_DS003760,,UMLS ID:C0149845,,,,,bronchus adenoma,MONDO:0003427,,,bronchus adenoma,DOID:5391,, +BMGC_DS02875,BMG_DS003761,Achilles bursitis,UMLS ID:C0149846,Achilles bursitis | Achillobursitis | Albert's syndrome | Swediaur's disease | Capped hock | Bursitis of calcaneal tendon bursa (disorder) | Bursitis of calcaneal tendon bursa | Achilles bursitis | Calcaneal osteochondritis | Achilles bursitis (disorder) | Achilles bursitis | Haglund's deformity | Achilles bursitis (disorder),SNOMEDCT ID:221695002 | SNOMEDCT ID:87494005 | SNOMEDCT ID:202879008,Other specified tenosynovitis,ICD11 ID:FB40.Y,Achilles bursitis,MONDO:0001594,,,Achilles bursitis,DOID:12857,ICD10 ID:M76.6, +BMGC_DS02876,BMG_DS003766,Spasmodic Croup,UMLS ID:C0149869,,,,,,,Croup,MeSH ID:D003440,,,, +BMGC_DS02877,BMG_DS003767,De Quervain Disease,UMLS ID:C0149870,,,,,de Quervain disease,MONDO:0006721,De Quervain Disease,MeSH ID:D053684,De Quervain disease,DOID:14107,, +BMGC_DS02878,BMG_DS003768,Deep Vein Thrombosis,UMLS ID:C0149871,,,,,,,Venous Thrombosis,MeSH ID:D020246,,,, +BMGC_DS02879,BMG_DS003770,hypoglycemic encephalopathy,UMLS ID:C0149877,,,,,,,,MeSH ID:C000721848,,,, +BMGC_DS02880,BMG_DS003773,Epididymo-orchitis,UMLS ID:C0149881,Epididymo-orchitis | Epididymo-orchitis (disorder) | Orchitis and epididymitis | Orchitis and epididymitis (disorder) | Epididymo-orchitis | Inflammation of testis and epididymis,SNOMEDCT ID:24084007 | SNOMEDCT ID:197983000 | SNOMEDCT ID:155915005,,,epididymo-orchitis,MONDO:0004778,,,epididymo-orchitis,DOID:9401,ICD10 ID:N45.3, +BMGC_DS02881,BMG_DS003775,"Seizure, Febrile, Simple",UMLS ID:C0149886,,,,,,,"Seizures, Febrile",MeSH ID:D003294,,,, +BMGC_DS02882,BMG_DS003776,Slipped Capital Femoral Epiphyses,UMLS ID:C0149887,,,,,epiphysiolysis of the hip,MONDO:0018382,Slipped Capital Femoral Epiphyses,MeSH ID:D060048,,,,OMIM ID:182260 +BMGC_DS02883,BMG_DS003778,Secondary glaucoma,UMLS ID:C0149893,Secondary glaucoma | Secondary glaucoma (disorder) | Glaucoma due to ocular disease,SNOMEDCT ID:95717004,,,,,,,,,,OMIM ID:MTHU048421 +BMGC_DS02884,BMG_DS003780,Cholestatic hepatitis,UMLS ID:C0149904,Cholestatic hepatitis | Cholestatic hepatitis (disorder),SNOMEDCT ID:95556007,,,,,,,,,,OMIM ID:MTHU070763 +BMGC_DS02885,BMG_DS003783,Humoral hypercalcemia of malignancy (disorder),UMLS ID:C0149911,Humoral hypercalcemia of malignancy | Malignancy associated hypercalcemia | Malignancy associated hypercalcaemia | Humoural hypercalcaemia of malignancy | Humoral hypercalcemia of malignancy (disorder) | Hypercalcaemia of malignancy | Malignant hypercalcaemia | Hypercalcemia of malignancy | Malignant hypercalcemia | HHM - humoral hypercalcemia of malignancy | MAHC - malignancy associated hypercalcaemia | MAHC - malignancy associated hypercalcemia | HHM - humoral hypercalcaemia of malignancy,SNOMEDCT ID:47709007,,,humoral hypercalcemia of malignancy,MONDO:0043455,,,,,, +BMGC_DS02886,BMG_DS003784,Lichen Simplex Chronicus,UMLS ID:C0149922,,,,,,,Neurodermatitis,MeSH ID:D009450,,,, +BMGC_DS02887,BMG_DS003785,,UMLS ID:C0149925,,,,,small cell lung carcinoma,MONDO:0008433,,,lung small cell carcinoma,DOID:5409,,OMIM ID:182280 +BMGC_DS02888,BMG_DS003787,Migraine Disorders,UMLS ID:C0149931,,,,,migraine disorder,MONDO:0005277,Migraine Disorders,MeSH ID:D008881,migraine,DOID:6364,, +BMGC_DS02889,BMG_DS003788,Obstructive nephropathy,UMLS ID:C0149939,Obstructive nephropathy | Obstructive nephropathy (disorder),SNOMEDCT ID:86249007,,,obstructive nephropathy,MONDO:0056796,,,obstructive nephropathy,DOID:0070314,, +BMGC_DS02890,BMG_DS003789,Sciatic Neuropathy,UMLS ID:C0149940,,,,,sciatic neuropathy,MONDO:0006960,Sciatic Neuropathy,MeSH ID:D020426,sciatic neuropathy,DOID:11446,, +BMGC_DS02891,BMG_DS003791,Acute otitis externa,UMLS ID:C0149948,Acute otitis externa | Acute otitis externa (disorder),SNOMEDCT ID:30250000,,,acute otitis externa,MONDO:0001051,,,,,, +BMGC_DS02892,BMG_DS003792,,UMLS ID:C0149951,,,,,ovarian fibroma,MONDO:0008168,,,,,,OMIM ID:166970 +BMGC_DS02893,BMG_DS003793,,UMLS ID:C0149955,,,,,annular pancreas,MONDO:0008183,,,annular pancreas,DOID:0060850,,OMIM ID:167750 +BMGC_DS02894,BMG_DS003799,Gonorrhea of pharynx,UMLS ID:C0149966,Gonorrhea of pharynx | Gonorrhoea of pharynx | Gonorrhea of pharynx (disorder) | Gonococcal pharyngitis,SNOMEDCT ID:74372003,,,,,,,,,, +BMGC_DS02895,BMG_DS003803,,UMLS ID:C0149978,,,,,rectum adenocarcinoma,MONDO:0002169,,,rectum adenocarcinoma,DOID:1996,, +BMGC_DS02896,BMG_DS003806,"Syphilis, secondary",UMLS ID:C0149985,,,,,secondary syphilis,MONDO:0002897,,MeSH ID:C536773,secondary syphilis,DOID:4157,, +BMGC_DS02897,BMG_DS003816,Chronic Headache,UMLS ID:C0151293,,,,,,,Headache Disorders,MeSH ID:D020773,,,, +BMGC_DS02898,BMG_DS003817,Mononeuritis Multiplex,UMLS ID:C0151295,,,,,mononeuritis multiplex,MONDO:0002128,Mononeuropathies,MeSH ID:D020422,mononeuritis multiplex,DOID:1835,, +BMGC_DS02899,BMG_DS003818,Cranial nerve palsies,UMLS ID:C0151311,,,,,cranial nerve palsy,MONDO:0002782,,,cranial nerve palsy,DOID:3817,,OMIM ID:MTHU005584 +BMGC_DS02900,BMG_DS003819,Sensory neuropathy,UMLS ID:C0151313,Sensory neuropathy | Sensory neuropathy (disorder),SNOMEDCT ID:95662005,,,sensory peripheral neuropathy,MONDO:0002321,,,sensory peripheral neuropathy,DOID:2491,,OMIM ID:MTHU001836 +BMGC_DS02901,BMG_DS003820,Chronic Infection,UMLS ID:C0151317,,,,,,,Persistent Infection,MeSH ID:D000088562,,,, +BMGC_DS02902,BMG_DS003822,Active tuberculosis,UMLS ID:C0151332,Active tuberculosis (disorder) | Active tuberculosis,SNOMEDCT ID:427099000,,,active tuberculosis,MONDO:0100481,,,,,, +BMGC_DS02903,BMG_DS003825,"Vasculitis, Leukocytoclastic, Cutaneous",UMLS ID:C0151436,,,,,allergic cutaneous vasculitis,MONDO:0001290,"Vasculitis, Leukocytoclastic, Cutaneous",MeSH ID:D018366,hypersensitivity vasculitis,DOID:9809,, +BMGC_DS02904,BMG_DS003832,Addisonian crisis,UMLS ID:C0151467,Addisonian crisis | Addisonian crisis (disorder) | Corticoadrenal insufficiency | Addison's disease | Addisonian crisis | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) (disorder) | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) | Addison's disease | Corticoadrenal insufficiency | Addisonian crisis | Corticoadrenal insufficiency (& Addison's [disease] or [crisis]) (disorder) | Acute adrenal insufficiency (& [Addisonian crisis] or [adrenal crisis]) | Addisonian crisis | Acute adrenal insufficiency | Adrenal crisis | Acute adrenal insufficiency (& [Addisonian crisis] or [adrenal crisis]) (disorder) | Acute adrenal failure | Acute adrenal insufficiency | Adrenocortical crisis | Adrenal crisis | Addisonian crisis | Acute adrenal insufficiency (disorder) | Acute adrenocortical insufficiency | Severe adrenal insufficiency | Severe adrenal insufficiency (disorder),SNOMEDCT ID:237757001 | SNOMEDCT ID:190526004 | SNOMEDCT ID:267483004 | SNOMEDCT ID:154707007 | SNOMEDCT ID:190522002 | SNOMEDCT ID:766986002 | SNOMEDCT ID:24867002,Adrenal crisis,ICD11 ID:5A74.1,acute adrenal insufficiency,MONDO:0019801,,,,,ICD10 ID:E27.2,OMIM ID:MTHU058969 +BMGC_DS02905,BMG_DS003833,,UMLS ID:C0151468,,,,,,,,,thyroid adenoma,DOID:2891,, +BMGC_DS02906,BMG_DS003834,Hypochloremic alkalosis,UMLS ID:C0151476,Hypochloremic alkalosis | Hypochloraemic alkalosis | Hypochloremic alkalosis (disorder),SNOMEDCT ID:70134007,,,,,,,,,, +BMGC_DS02907,BMG_DS003835,Megaloblastic anemia due to folate deficiency,UMLS ID:C0151482,Megaloblastic anemia due to folate deficiency | Folate deficiency anemia | Folic acid deficiency anemia | Megaloblastic anaemia due to folate deficiency | Folate deficiency anaemia | Folic acid deficiency anaemia | Megaloblastic anemia due to folate deficiency (disorder),SNOMEDCT ID:85649008,,,folic acid deficiency anemia,MONDO:0001860,,,folic acid deficiency anemia,DOID:14026,, +BMGC_DS02908,BMG_DS003837,Atrophic condition of skin,UMLS ID:C0151514,Atrophic condition of skin (disorder) | Atrophic condition of skin | Atrophy of skin | Skin atrophy | Atrophic skin | Atrophoderma | Atrophic condition of skin | Atrophy of skin | Atrophoderma | Skin atrophy | Atrophic skin | Atrophic condition of skin (disorder),SNOMEDCT ID:400190005 | SNOMEDCT ID:16343004,,,skin atrophy,MONDO:0006610,,,skin atrophy,DOID:2733,, +BMGC_DS02909,BMG_DS003838,Thyroid Hypoplasia,UMLS ID:C0151516,,,,,thyroid hypoplasia,MONDO:0019861,Thyroid Dysgenesis,MeSH ID:D050033,,,, +BMGC_DS02910,BMG_DS003839,Complete atrioventricular block,UMLS ID:C0151517,Complete atrioventricular block | Third degree atrioventricular block | Third degree heart block | Complete heart block | CHB - Complete heart block | Complete atrioventricular block (disorder) | High grade atrioventricular block | Complete atrioventricular block | Complete atrioventricular block (disorder),SNOMEDCT ID:27885002 | SNOMEDCT ID:195063000 | SNOMEDCT ID:155355004,,,third-degree atrioventricular block,MONDO:0000468,,,,,, +BMGC_DS02911,BMG_DS003841,,UMLS ID:C0151544,,,,,digestive system carcinoma,MONDO:0006181,,,,,, +BMGC_DS02912,BMG_DS003843,Central nervous system depression (disorder),UMLS ID:C0151559,Central nervous system depression (disorder) | Central nervous system depression,SNOMEDCT ID:418072004,,,,,,,,,, +BMGC_DS02913,BMG_DS003848,Hemorrhagic diarrhea,UMLS ID:C0151594,Hemorrhagic diarrhea | Bloody diarrhea | Bloody diarrhoea | Haemorrhagic diarrhoea | Hemorrhagic diarrhea (disorder),SNOMEDCT ID:95545007,,,,,,,,,, +BMGC_DS02914,BMG_DS003849,Hypertensive Encephalopathy,UMLS ID:C0151620,,,,,hypertensive encephalopathy,MONDO:0006796,Hypertensive Encephalopathy,MeSH ID:D020343,hypertensive encephalopathy,DOID:9427,, +BMGC_DS02915,BMG_DS003850,Endometrial disorder,UMLS ID:C0151622,Endometrial disorder (disorder) | Endometrial disorder,SNOMEDCT ID:418632009,,,endometrial disorder,MONDO:0000931,,,endometrial disease,DOID:1005,, +BMGC_DS02916,BMG_DS003852,Premature ventricular contractions,UMLS ID:C0151636,,,,,,,,,,,,OMIM ID:MTHU042669 +BMGC_DS02917,BMG_DS003853,Fanconi like syndrome,UMLS ID:C0151638,,,,,Fanconi-like syndrome,MONDO:0009217,,MeSH ID:C536855,Fanconi-like syndrome,DOID:0090066,,OMIM ID:227850 +BMGC_DS02918,BMG_DS003854,Renal fibrosis,UMLS ID:C0151650,Renal fibrosis | Renal fibrosis (disorder),SNOMEDCT ID:197660000,,,renal fibrosis,MONDO:0000494,,,,,,OMIM ID:MTHU073879 +BMGC_DS02919,BMG_DS003857,Gastrointestinal perforation,UMLS ID:C0151664,Gastrointestinal perforation | Gastrointestinal perforation (disorder),SNOMEDCT ID:51875005,,,,,,,,,, +BMGC_DS02920,BMG_DS003859,,UMLS ID:C0151691,,,,,hypoalphalipoproteinemia,MONDO:0017773,,,,,, +BMGC_DS02921,BMG_DS003860,Hypermagnesemia,UMLS ID:C0151714,Hypermagnesemia | Hypermagnesaemia | Hypermagnesemia (disorder),SNOMEDCT ID:66978005,,,,,,,,,ICD10 ID:E83.41, +BMGC_DS02922,BMG_DS003861,Hypocholesterolemia,UMLS ID:C0151718,Hypocholesterolemia | Hypocholesteremia | Hypocholesterolaemia | Hypocholesteraemia | Hypocholesterolemia (disorder),SNOMEDCT ID:61336008,,,,,,,,,,OMIM ID:MTHU009711 +BMGC_DS02923,BMG_DS003862,Testicular hypogonadism,UMLS ID:C0151721,"(Hypogonadism: [eunuchoidism] or [testicular]) or (other testicular hypofunction) | Testicular hypogonadism | Other testicular hypofunction | Eunuchoidism, hypogonadism | Eunuchoidism hypogonadism | (Hypogonadism: [eunuchoidism] or [testicular]) or (other testicular hypofunction) (disorder) | Testicular hypogonadism | Testicular hypogonadism (disorder) | Male hypogonadism | Eunuchoidism hypogonadism | Primary gonadal failure | Testicular hypogonadism | Eunuchoidism | Testicular failure | Primary male hypogonadism | Male hypogonadism (disorder) | Eunuchoidism, hypogonadism",SNOMEDCT ID:190557004 | SNOMEDCT ID:30187002 | SNOMEDCT ID:48723006,,,"hypogonadism, male",MONDO:0009421,,,,,,OMIM ID:241100 +BMGC_DS02924,BMG_DS003863,Hypomagnesemia,UMLS ID:C0151723,Hypomagnesemia | Hypomagnesaemia | Hypomagnesemia (disorder) | Hypomagnesaemia | Hypomagnesemia | Hypomagnesemia (disorder),SNOMEDCT ID:82020005 | SNOMEDCT ID:190855004,,,familial primary hypomagnesemia,MONDO:0018100,,,,,ICD10 ID:E83.42,OMIM ID:MTHU036920 +BMGC_DS02925,BMG_DS003864,Hepatic Infarction,UMLS ID:C0151731,,,,,hepatic infarction,MONDO:0001787,Hepatic Infarction,MeSH ID:D000081011,hepatic infarction,DOID:13738,, +BMGC_DS02926,BMG_DS003865,,UMLS ID:C0151740,,,,,intracranial hypertension,MONDO:0006810,,,intracranial hypertension,DOID:9428,, +BMGC_DS02927,BMG_DS003866,Myocardial Ischemia,UMLS ID:C0151744,,,,,myocardial ischemia,MONDO:0024644,Myocardial Ischemia,MeSH ID:D017202,coronary artery disease,DOID:3393,, +BMGC_DS02928,BMG_DS003867,Renal tubular disorder,UMLS ID:C0151747,Renal tubular disorder | Renal tubular disorder (disorder),SNOMEDCT ID:95568003,,,renal tubule disorder,MONDO:0021568,,,,,, +BMGC_DS02929,BMG_DS003868,Bone marrow depression,UMLS ID:C0151773,Bone marrow depression | Bone marrow depression (disorder) | Bone marrow failure | Bone marrow depression | Bone marrow depression (disorder) | Hypoplasia of bone marrow | Medullary hypoplasia | Bone marrow depression | Hypoplasia of bone marrow (disorder),SNOMEDCT ID:307762000 | SNOMEDCT ID:191398002 | SNOMEDCT ID:58642009,,,,,,,,,, +BMGC_DS02930,BMG_DS003869,,UMLS ID:C0151779,,,,,cutaneous melanoma,MONDO:0005012,,,skin melanoma,DOID:8923,, +BMGC_DS02931,BMG_DS003870,Disease of mucous membrane,UMLS ID:C0151785,Disease of mucosa | Mucous membrane disorder | Mucosal disease | Disorder of mucous membrane (disorder) | Disorder of mucous membrane,SNOMEDCT ID:95351003,,,,,,,,,, +BMGC_DS02932,BMG_DS003873,Hepatic necrosis,UMLS ID:C0151798,Hepatic necrosis | Liver necrosis | Hepatic necrosis (disorder),SNOMEDCT ID:87248009,,,,,,,,,,OMIM ID:MTHU012736 +BMGC_DS02933,BMG_DS003874,Coronary Occlusion,UMLS ID:C0151814,,,,,,,Coronary Occlusion,MeSH ID:D054059,,,, +BMGC_DS02934,BMG_DS003875,Perforated corneal ulcer,UMLS ID:C0151844,Perforated corneal ulcer | Perforated corneal ulcer (disorder),SNOMEDCT ID:46606001,,,perforated corneal ulcer,MONDO:0001038,,,perforated corneal ulcer,DOID:10445,ICD10 ID:H16.07, +BMGC_DS02935,BMG_DS003877,Pleocytosis,UMLS ID:C0151857,Pleocytosis | Pleocytosis of cerebrospinal fluid (finding) | Pleocytosis of cerebrospinal fluid,SNOMEDCT ID:91454002,,,,,Leukocytosis,MeSH ID:D007964,,,, +BMGC_DS02936,BMG_DS003880,Porphyruria,UMLS ID:C0151861,Porphyruria | Porphyrinuria | Hematoporphyrinuria | Pink tooth | Haematoporphyrinuria | Porphyruria (disorder),SNOMEDCT ID:44574006,,,,,,,,,, +BMGC_DS02937,BMG_DS003881,Disorder of pregnancy,UMLS ID:C0151864,Disorder of pregnancy | Disorder of pregnancy (disorder) | Disease of pregnancy | Disease of pregnancy (disorder),SNOMEDCT ID:172422001 | SNOMEDCT ID:23288008 | SNOMEDCT ID:173300003,,,pregnancy disorder,MONDO:0024575,,,placenta disease,DOID:780,, +BMGC_DS02938,BMG_DS003883,Fungal infection of lung,UMLS ID:C0151874,Fungal infection of lung | Pulmonary mycosis | Fungal infection of lung (disorder),SNOMEDCT ID:63741006,,,,,,,,,, +BMGC_DS02939,BMG_DS003885,,UMLS ID:C0151889,,,,,hyperreflexia,MONDO:0007774,,,,,,OMIM ID:145290 +BMGC_DS02940,BMG_DS003888,Hypocalcemic tetany,UMLS ID:C0151940,Hypocalcaemic tetany | Hypocalcemic tetany | Hypocalcemic tetany (disorder),SNOMEDCT ID:190869004,,,,,,,,,,OMIM ID:MTHU019662 +BMGC_DS02941,BMG_DS003889,Thrombosis of cerebral veins,UMLS ID:C0151945,Thrombosis of cerebral veins | Cerebral venous thrombosis | Thrombosis of cerebral veins (disorder) | Cerebral vein thrombosis,SNOMEDCT ID:95455008,,,,,,,,,, +BMGC_DS02942,BMG_DS003895,Ulcer of esophagus,UMLS ID:C0151970,Ulcer of oesophagus | Ulcer of esophagus | Ulcer of oesophagus (disorder) | Ulcer of esophagus | Oesophageal ulcer | Esophageal ulcer | Ulcer of oesophagus | OU - Oesophageal ulcer | OU - Esophageal ulcer | Ulcer of esophagus (disorder) | Peptic ulceration of oesophagus | Peptic ulcer of oesophagus | Peptic ulceration of esophagus | Peptic ulcer of esophagus,SNOMEDCT ID:155674002 | SNOMEDCT ID:30811009,"Oesophageal ulcer, unspecified",ICD11 ID:DA25.Z,esophageal ulcer,MONDO:0044782,,,,,ICD10 ID:K22.1, +BMGC_DS02943,BMG_DS003896,Ulceration of intestine,UMLS ID:C0151971,Ulceration of intestine | Ulceration of intestine (disorder),SNOMEDCT ID:85942002,,,,,,,,,, +BMGC_DS02944,BMG_DS003900,,UMLS ID:C0152013,,,,,lung adenocarcinoma,MONDO:0005061,,,lung adenocarcinoma,DOID:3910,, +BMGC_DS02945,BMG_DS003902,,UMLS ID:C0152018,,,,,carcinoma of esophagus,MONDO:0019086,,,esophageal carcinoma,DOID:1107,, +BMGC_DS02946,BMG_DS003903,Gastroparesis,UMLS ID:C0152020,Gastroparesis syndrome | Gastric atony | Gastric stasis | Gastroparesis | Gastroparesis (disorder),SNOMEDCT ID:235675006,,,gastroparesis,MONDO:0006769,Gastroparesis,MeSH ID:D018589,gastroparesis,DOID:11914,ICD10 ID:K31.84,OMIM ID:MTHU005170 +BMGC_DS02947,BMG_DS003904,,UMLS ID:C0152021,,,,,congenital heart disease,MONDO:0005453,,,,,, +BMGC_DS02948,BMG_DS003906,Polyneuropathy,UMLS ID:C0152025,Polyneuropathy | Acquired polyneuropathy | Polyneuropathy (disorder) | Polyneuropathy (multiple nerve disorder) | Neuropathy: [peripheral] or [polyneuropathy] | Polyneuropathy | Peripheral neuropathy | Neuropathy: [peripheral] or [polyneuropathy] (disorder) | Polyneuropathy | Polyneuropathy (disorder) | Neuropathy: [peripheral] or [polyneuropathy] | Peripheral neuropathy | Polyneuropathy | Neuropathy: [peripheral] or [polyneuropathy] (disorder),SNOMEDCT ID:42345000 | SNOMEDCT ID:267706009 | SNOMEDCT ID:193166009 | SNOMEDCT ID:155080009,,,polyneuropathy,MONDO:0001824,Polyneuropathies,MeSH ID:D011115,polyneuropathy,DOID:1389,ICD10 ID:A69.22,OMIM ID:MTHU038003 +BMGC_DS02949,BMG_DS003907,Retinal Vasculitis,UMLS ID:C0152026,,,,,retinal vasculitis,MONDO:0006950,Retinal Vasculitis,MeSH ID:D031300,retinal vasculitis,DOID:11563,, +BMGC_DS02950,BMG_DS003908,Sensory Disorders,UMLS ID:C0152027,,,,,,,Sensation Disorders,MeSH ID:D012678,,,, +BMGC_DS02951,BMG_DS003910,Borrelia recurrentis Infection,UMLS ID:C0152061,,,,,louse-borne relapsing fever,MONDO:0001620,Relapsing Fever,MeSH ID:D012061,louse-borne relapsing fever,DOID:13035,, +BMGC_DS02952,BMG_DS003913,Lobomycosis,UMLS ID:C0152066,Lobomycosis | Keloidal blastomycosis | Lobo's disease | Infection by Paracoccidioides loboii | Infection by Loboa loboii | Lobomycosis (disorder) | Cheloidal blastomycosis | Cutaneous lobomycosis | Lobomycosis infection,SNOMEDCT ID:47306003,Lobomycosis,ICD11 ID:1F2B,lobomycosis,MONDO:0001616,Lobomycosis,MeSH ID:D060368,lobomycosis,DOID:13026,ICD10 ID:B48.0, +BMGC_DS02953,BMG_DS003914,tinea nigra,UMLS ID:C0152067,,,,,tinea nigra,MONDO:0004677,,MeSH ID:C000656904,tinea nigra,DOID:8912,, +BMGC_DS02954,BMG_DS003915,Echinococcus granulosus infection,UMLS ID:C0152068,Echinococcus granulosus infection | Unilocular hydatid disease | Echinococcus granulosus infection (disorder),SNOMEDCT ID:75006000,,,echinococcus granulosus infectious disease,MONDO:0044346,,,cystic echinococcosis,DOID:1495,, +BMGC_DS02955,BMG_DS003916,Echinococcus multilocularis infection,UMLS ID:C0152069,Echinococcus multilocularis infection | Alveolar hydatid disease | Echinococcus multilocularis infection (disorder),SNOMEDCT ID:21009004,,,alveolar echinococcosis,MONDO:0017282,,,alveolar echinococcosis,DOID:12148,, +BMGC_DS02956,BMG_DS003918,Infection by Heterophyes heterophyes,UMLS ID:C0152071,Infection by Heterophyes heterophyes | Heterophyiasis | Heterophyosis | Heterophyes heterophyes infection | Infection caused by Heterophyes heterophyes | Infection caused by Heterophyes heterophyes (disorder),SNOMEDCT ID:22905009,,,heterophyiasis,MONDO:0004662,,,heterophyiasis,DOID:882,, +BMGC_DS02957,BMG_DS003919,Ovale malaria,UMLS ID:C0152072,Ovale malaria | Malaria by Plasmodium ovale | Ovale malaria (disorder) | Ovale tertian malaria,SNOMEDCT ID:19341001,,,Plasmodium ovale malaria,MONDO:0001601,,,Plasmodium ovale malaria,DOID:12919,, +BMGC_DS02958,BMG_DS003920,Taenia saginata infection,UMLS ID:C0152073,Taenia saginata infection | Beef tapeworm infection | Infection by Taenia saginata | Taenia saginata infection (disorder) | Unarmed tapeworm infection | Taenia saginata taeniasis,SNOMEDCT ID:69163003,,,,,,,taeniasis,DOID:0050596,, +BMGC_DS02959,BMG_DS003922,Dyshormonogenic goiter,UMLS ID:C0152077,Dyshormonogenic goitre | Dyshormonogenic goiter | Dyshormonogenic goiter (disorder),SNOMEDCT ID:190304001,,,dyshormonogenic goiter,MONDO:0001460,,,dyshormonogenic goiter,DOID:12175,, +BMGC_DS02960,BMG_DS003923,Pelvic congestion syndrome,UMLS ID:C0152078,Pelvic congestion syndrome | Taylor's syndrome | Congestion-fibrosis syndrome | Pelvic congestion | Pelvic congestion syndrome (disorder) | Pelvic congestion syndrome | Pelvic congestion syndrome (disorder),SNOMEDCT ID:39402007 | SNOMEDCT ID:156027002,,,Taylor syndrome,MONDO:0004762,,,Taylor's syndrome,DOID:9346,, +BMGC_DS02961,BMG_DS003924,Broad ligament laceration syndrome,UMLS ID:C0152079,Broad ligament laceration syndrome | Masters-Allen syndrome | Ligamentum latum laceration syndrome | Broad ligament laceration syndrome (disorder),SNOMEDCT ID:69186005,,,Allen-Masters syndrome,MONDO:0001887,,,Masters-Allen syndrome,DOID:14133,, +BMGC_DS02962,BMG_DS003925,Pustular psoriasis,UMLS ID:C0152081,Pustular psoriasis | Pustular psoriasis (disorder),SNOMEDCT ID:200973000 | SNOMEDCT ID:200901002,,,pustular psoriasis,MONDO:0022205,,,,,,OMIM ID:MTHU068352 +BMGC_DS02963,BMG_DS003926,Transient arthropathy,UMLS ID:C0152083,Transient arthropathy | Transient arthropathy (disorder),SNOMEDCT ID:66191007,Certain specified inflammatory arthropathies,ICD11 ID:FA27,transient arthropathy,MONDO:0001429,,,transient arthritis,DOID:2092,ICD10 ID:M12.8, +BMGC_DS02964,BMG_DS003927,Jaccoud's syndrome,UMLS ID:C0152084,Jaccoud's syndrome | Chronic postrheumatic arthropathy | Jaccoud's arthritis | Jaccoud's disease | Chronic post - rheumatic arthropathy | Jaccoud's syndrome (disorder) | Jaccoud syndrome | Non-deforming erosive arthropathy,SNOMEDCT ID:84801008,,,Jaccoud syndrome,MONDO:0001629,,,Jaccoud's syndrome,DOID:13080,, +BMGC_DS02965,BMG_DS003928,,UMLS ID:C0152085,,,,,,,,,reactive arthritis,DOID:6196,, +BMGC_DS02966,BMG_DS003930,Traumatic spondylopathy,UMLS ID:C0152088,Kummell's disease | Kummell's spondylitis | Kummell-Verneuil disease | Kümmell disease | Kümmell's spondylitis | Kümmell-Verneuil disease | Kümmell disease (disorder) | Traumatic spondylopathy | Traumatic spondylopathy (disorder),SNOMEDCT ID:240218006 | SNOMEDCT ID:111232005,Traumatic spondylopathy,ICD11 ID:FA72.2,Kummell disease,MONDO:0003940,,,Kummell's disease,DOID:6603,ICD10 ID:M48.3, +BMGC_DS02967,BMG_DS003934,Juvenile dermatitis herpetiformis,UMLS ID:C0152092,Juvenile dermatitis herpetiformis | Juvenile dermatitis herpetiformis (disorder) | Juvenile dermatitis herpetiformis | Juvenile pemphigoid | Juvenile: [dermatitis herpetiformis] or [pemphigoid] | Juvenile: [dermatitis herpetiformis] or [pemphigoid] (disorder),SNOMEDCT ID:267799009 | SNOMEDCT ID:200900001 | SNOMEDCT ID:5906000,Linear IgA bullous dermatosis,ICD11 ID:EB42,juvenile dermatitis herpetiformis,MONDO:0006565,,,juvenile dermatitis herpetiformis,DOID:8507,ICD10 ID:L12.2, +BMGC_DS02968,BMG_DS003935,Hypermobility syndrome,UMLS ID:C0152093,Hypermobility syndrome | Hypermobility syndrome (disorder) | Familial ligamentous laxity,SNOMEDCT ID:85551004,Other specified types of EhlersDanlos syndrome,ICD11 ID:LD28.1Y,hypermobility syndrome,MONDO:0001798,,,hypermobility syndrome,DOID:13781,ICD10 ID:M35.7, +BMGC_DS02969,BMG_DS003936,Nezelof's syndrome,UMLS ID:C0152094,Nezelof's syndrome | Congenital thymic dysplasia syndrome | Nezelof's syndrome (disorder) | Nezelof syndrome,SNOMEDCT ID:55602000,Immunodeficiency due to defects of the thymus,ICD11 ID:4A01.30,Nezelof syndrome,MONDO:0009451,,,Nezelof syndrome,DOID:2012,ICD10 ID:D81.4,OMIM ID:242700 +BMGC_DS02970,BMG_DS003937,Patau syndrome,UMLS ID:C0152095,Complete trisomy 13 syndrome | Patau syndrome | D>1< trisomy syndrome | Complete trisomy 13 syndrome (disorder),SNOMEDCT ID:21111006,,,trisomy 13,MONDO:0018068,,,Patau syndrome,DOID:11665,, +BMGC_DS02971,BMG_DS003939,Disease of diaphragm,UMLS ID:C0152097,Diaphragmatic disease | Diaphragmatic disorder | Disorder of diaphragm (disorder) | Disorder of diaphragm,SNOMEDCT ID:48475001,,,diaphragm disorder,MONDO:0005728,,,diaphragm disease,DOID:10481,, +BMGC_DS02972,BMG_DS003940,Postcholecystectomy Syndrome,UMLS ID:C0152099,,,,,postcholecystectomy syndrome,MONDO:0006916,Postcholecystectomy Syndrome,MeSH ID:D017562,postcholecystectomy syndrome,DOID:9740,, +BMGC_DS02973,BMG_DS003941,Hypoplastic Left Heart Syndrome,UMLS ID:C0152101,,,,,hypoplastic left heart syndrome,MONDO:0004933,Hypoplastic Left Heart Syndrome,MeSH ID:D018636,hypoplastic left heart syndrome,DOID:9955,, +BMGC_DS02974,BMG_DS003942,Kyphoscoliotic heart disease,UMLS ID:C0152102,Kyphoscoliotic heart disease | Kyphoscoliotic heart disease (disorder),SNOMEDCT ID:194886003 | SNOMEDCT ID:45650007,Other specified diseases of the circulatory system,ICD11 ID:BE2Y,kyphoscoliotic heart disease,MONDO:0001492,,,kyphoscoliotic heart disease,DOID:12325,ICD10 ID:I27.1, +BMGC_DS02975,BMG_DS003943,Hypertensive heart disease,UMLS ID:C0152105,Hypertensive heart disease | Hypertensive heart disease (disorder) | Hypertensive heart disease | Hypertensive cardiopathy | Hypertensive cardiovascular disease | Hypertensive heart disease (disorder) | HHD - hypertensive heart disease,SNOMEDCT ID:155297007 | SNOMEDCT ID:64715009,,,hypertensive heart disease,MONDO:0001302,,,hypertensive heart disease,DOID:11516,ICD10 ID:I11, +BMGC_DS02976,BMG_DS003944,Postmyocardial infarction syndrome,UMLS ID:C0152107,Postmyocardial infarction syndrome | Post-myocardial infarction syndrome | Postmyocardial infarction syndrome (disorder),SNOMEDCT ID:66189004,Dressler syndrome,ICD11 ID:BA60.0,Dressler syndrome,MONDO:0001049,,,Dressler's syndrome,DOID:10507,ICD10 ID:I24.1, +BMGC_DS02977,BMG_DS003945,Suberosis,UMLS ID:C0152108,Suberosis | Cork-handlers' disease | Cork-handlers' lung | Suberosis (disorder) | Cork-handlers' hypersensitivity pneumonitis,SNOMEDCT ID:13394002,Suberosis,ICD11 ID:CA70.3,cork-handlers' disease,MONDO:0004549,,,cork-handlers' disease,DOID:840,ICD10 ID:J67.3, +BMGC_DS02978,BMG_DS003946,Juvenile Spinal Muscular Atrophy,UMLS ID:C0152109,,,,,"spinal muscular atrophy, type III",MONDO:0009672,Spinal Muscular Atrophies of Childhood,MeSH ID:D014897,juvenile spinal muscular atrophy,DOID:12376,,OMIM ID:253400 +BMGC_DS02979,BMG_DS003948,Foster-Kennedy Syndrome,UMLS ID:C0152112,,,,,Foster-Kennedy syndrome,MONDO:0001998,Optic Nerve Diseases,MeSH ID:D009901,Foster-Kennedy syndrome,DOID:14555,, +BMGC_DS02980,BMG_DS003949,Rheumatic Chorea,UMLS ID:C0152113,,,,,Sydenham chorea,MONDO:0017648,Chorea,MeSH ID:D002819,,,, +BMGC_DS02981,BMG_DS003950,Lingual-Facial-Buccal Dyskinesia,UMLS ID:C0152115,,,,,lingual-facial-buccal dyskinesia,MONDO:0004901,Dyskinesias,MeSH ID:D020820,lingual-facial-buccal dyskinesia,DOID:9854,, +BMGC_DS02982,BMG_DS003951,,UMLS ID:C0152116,,,,,cervical dystonia,MONDO:0000481,,,,,, +BMGC_DS02983,BMG_DS003953,Drug withdrawal syndrome,UMLS ID:C0152128,Drug withdrawal syndrome | Drug withdrawal syndrome (disorder) | Drug withdrawal | Drug withdrawal (disorder) | Drug withdrawal syndrome,SNOMEDCT ID:18159001 | SNOMEDCT ID:154856000 | SNOMEDCT ID:363101005,,,,,,,,,, +BMGC_DS02984,BMG_DS003954,Solar Retinitis,UMLS ID:C0152131,,,,,,,Foveomacular Retinitis,MeSH ID:D000099070,solar retinopathy,DOID:11282,, +BMGC_DS02985,BMG_DS003955,Hypertensive Retinopathy,UMLS ID:C0152132,,,,,hypertensive retinopathy,MONDO:0006797,Hypertensive Retinopathy,MeSH ID:D058437,hypertensive retinopathy,DOID:11561,, +BMGC_DS02986,BMG_DS003956,Internuclear Ophthalmoplegia,UMLS ID:C0152134,,,,,internuclear ophthalmoplegia,MONDO:0003417,Ocular Motility Disorders,MeSH ID:D015835,internuclear ophthalmoplegia,DOID:538,, +BMGC_DS02987,BMG_DS003957,Exophthalmic ophthalmoplegia,UMLS ID:C0152135,Exophthalmic ophthalmoplegia | Exophthalmic ophthalmoplegia (disorder),SNOMEDCT ID:69763009,,,exophthalmic ophthalmoplegia,MONDO:0001643,,,exophthalmic ophthalmoplegia,DOID:13135,, +BMGC_DS02988,BMG_DS003958,Low Tension Glaucoma,UMLS ID:C0152136,,,,,low tension glaucoma,MONDO:0006837,Low Tension Glaucoma,MeSH ID:D057066,low tension glaucoma,DOID:13544,, +BMGC_DS02989,BMG_DS003959,Phacolytic glaucoma,UMLS ID:C0152137,Phacolytic glaucoma | Phacolytic glaucoma (disorder),SNOMEDCT ID:32893002,,,phacolytic glaucoma,MONDO:0001553,,,phacolytic glaucoma,DOID:12570,, +BMGC_DS02990,BMG_DS003960,Glaucomatocyclitic crisis,UMLS ID:C0152138,Glaucomatocyclitic crisis | Posner-Schlossman syndrome | Terrien-Viel syndrome | Glaucomatocyclitic crisis (disorder),SNOMEDCT ID:29538005,,,glaucomatocyclitic crisis,MONDO:0004772,,,glaucomatocyclitic crisis,DOID:9378,, +BMGC_DS02991,BMG_DS003962,Pylorospasm,UMLS ID:C0152163,Pylorospasm | Pylorospasm (disorder),SNOMEDCT ID:335002,,,pylorospasm,MONDO:0001428,,,pylorospasm,DOID:12072,,OMIM ID:MTHU077351 +BMGC_DS02992,BMG_DS003963,Cyclical vomiting syndrome,UMLS ID:C0152164,Cyclical vomiting syndrome | Periodic vomiting | Cyclical vomiting | Cyclical vomiting syndrome (disorder) | Periodic vomiting syndrome,SNOMEDCT ID:18773000,,,cyclic vomiting syndrome,MONDO:0010778,,,,,,OMIM ID:500007 +BMGC_DS02993,BMG_DS003964,Pancreatic steatorrhea,UMLS ID:C0152166,Pancreatic steatorrhea | Pancreatic steatorrhoea | Pancreatic steatorrhea (disorder) | Pancreatic steatorrhoea | Pancreatic steatorrhea | Pancreatic steatorrhoea (disorder),SNOMEDCT ID:54576000 | SNOMEDCT ID:197487009 | SNOMEDCT ID:155845009,Pancreatic steatorrhoea,ICD11 ID:DC35.2,pancreatic steatorrhea,MONDO:0001079,,,pancreatic steatorrhea,DOID:10610,ICD10 ID:K90.3, +BMGC_DS02994,BMG_DS003965,Anal spasm,UMLS ID:C0152167,Anal spasm | Anal spasm (disorder),SNOMEDCT ID:197136003 | SNOMEDCT ID:17440005,Anal spasm,ICD11 ID:DB72.0,anal spasm,MONDO:0001274,,,anal spasm,DOID:11374,ICD10 ID:K59.4, +BMGC_DS02995,BMG_DS003967,Idiopathic pulmonary hypertension,UMLS ID:C0152171,Primary pulmonary hypertension | Essential pulmonary hypertension | Primary pulmonary hypertension (disorder) | PPHT - Primary pulmonary hypertension,SNOMEDCT ID:26174007,,,primary pulmonary hypertension,MONDO:0001999,,,primary pulmonary hypertension,DOID:14557,, +BMGC_DS02996,BMG_DS003971,Vagus Nerve Disorder,UMLS ID:C0152179,,,,,vagus nerve disorder,MONDO:0001535,Vagus Nerve Diseases,MeSH ID:D020421,Vagus nerve disease,DOID:12491,, +BMGC_DS02997,BMG_DS003972,,UMLS ID:C0152180,,,,,accessory nerve disorder,MONDO:0002636,,,accessory nerve disease,DOID:339,, +BMGC_DS02998,BMG_DS003973,,UMLS ID:C0152181,,,,,hypoglossal nerve disorder,MONDO:0001810,,,hypoglossal nerve disease,DOID:13814,, +BMGC_DS02999,BMG_DS003974,,UMLS ID:C0152183,,,,,,,,,intermittent explosive disorder,DOID:12401,, +BMGC_DS03000,BMG_DS003976,Stimulus deprivation amblyopia,UMLS ID:C0152189,Deprivation amblyopia | Stimulus deprivation amblyopia | Stimulus deprivation amblyopia (disorder) | Amblyopia ex anopsia | Disuse amblyopia,SNOMEDCT ID:193638002,,,disuse amblyopia,MONDO:0001022,,,deprivation amblyopia,DOID:10378,, +BMGC_DS03001,BMG_DS003977,Refractive amblyopia,UMLS ID:C0152190,Refractive amblyopia | Refractive amblyopia (disorder) | Ametropic amblyopia | Meridional amblyopia,SNOMEDCT ID:90927000,,,ametropic amblyopia,MONDO:0001021,,,refractive amblyopia,DOID:10377,ICD10 ID:H53.02, +BMGC_DS03002,BMG_DS003978,,UMLS ID:C0152192,,,,,,,,,scotoma,DOID:9335,, +BMGC_DS03003,BMG_DS003979,Regular astigmatism,UMLS ID:C0152193,Regular astigmatism | Regular astigmatism (disorder),SNOMEDCT ID:68905002,,,regular astigmatism,MONDO:0001364,,,regular astigmatism,DOID:11781,ICD10 ID:H52.22, +BMGC_DS03004,BMG_DS003980,Irregular astigmatism,UMLS ID:C0152194,Irregular astigmatism | Irregular astigmatism (disorder),SNOMEDCT ID:47099006,,,irregular astigmatism,MONDO:0001831,,,irregular astigmatism,DOID:13919,ICD10 ID:H52.21, +BMGC_DS03005,BMG_DS003981,Spasm of accommodation,UMLS ID:C0152196,Spasm of accommodation | Spasm of accommodation (disorder) | Ciliary muscle spasm,SNOMEDCT ID:30069002,,,accommodative spasm,MONDO:0001329,,,accommodative spasm,DOID:11637,ICD10 ID:H52.53, +BMGC_DS03006,BMG_DS003982,Total internal ophthalmoplegia,UMLS ID:C0152197,Total internal ophthalmoplegia | Complete internal ophthalmoplegia | Total internal ophthalmoplegia (disorder) | Total internal ophthalmoplegia | Total internal ophthalmoplegia (disorder),SNOMEDCT ID:86266009 | SNOMEDCT ID:193630009,,,total internal ophthalmoplegia,MONDO:0001211,,,total internal ophthalmoplegia,DOID:11177,, +BMGC_DS03007,BMG_DS003983,Disorder of accommodation,UMLS ID:C0152198,Disorder of accommodation | Disorder of accommodation (disorder),SNOMEDCT ID:155137002 | SNOMEDCT ID:54552008,,,eye accommodation disease,MONDO:0000926,,,eye accommodation disease,DOID:10034,, +BMGC_DS03008,BMG_DS003984,Achromatopsia,UMLS ID:C0152200,Achromatopsia | Monochromatism | Achromatism | Achromatopsia (disorder),SNOMEDCT ID:56852002,,,achromatopsia,MONDO:0018852,Color Vision Defects,MeSH ID:D003117,achromatopsia,DOID:13911,ICD10 ID:H53.51, +BMGC_DS03009,BMG_DS003985,,UMLS ID:C0152202,,,,,acquired night blindness,MONDO:0001296,,,acquired night blindness,DOID:11491,, +BMGC_DS03010,BMG_DS003986,"Strabismus, Comitant",UMLS ID:C0152203,,,,,,,Strabismus,MeSH ID:D013285,,,, +BMGC_DS03011,BMG_DS003987,Monocular Esotropia,UMLS ID:C0152204,,,,,monocular esotropia,MONDO:0000997,Esotropia,MeSH ID:D004948,monocular esotropia,DOID:10293,, +BMGC_DS03012,BMG_DS003988,Alternating esotropia,UMLS ID:C0152205,Alternating esotropia | Alternating esotropia (disorder),SNOMEDCT ID:39837002 | SNOMEDCT ID:194080005,,,alternating esotropia,MONDO:0004913,,,alternating esotropia,DOID:9888,ICD10 ID:H50.05,OMIM ID:MTHU068693 +BMGC_DS03013,BMG_DS003989,Monocular Exotropia,UMLS ID:C0152206,,,,,monocular exotropia,MONDO:0001392,Exotropia,MeSH ID:D005099,monocular exotropia,DOID:11853,, +BMGC_DS03014,BMG_DS003990,Alternating Exotropia,UMLS ID:C0152207,,,,,alternating exotropia,MONDO:0001281,Exotropia,MeSH ID:D005099,alternating exotropia,DOID:1142,, +BMGC_DS03015,BMG_DS003991,Hypotropia,UMLS ID:C0152208,Hypotropia | Hypotropia (disorder) | hyop - Hypotropia,SNOMEDCT ID:29491004,,,hypotropia,MONDO:0004897,,,hypotropia,DOID:9841,,OMIM ID:MTHU062617 +BMGC_DS03016,BMG_DS003992,cyclotropia,UMLS ID:C0152209,,,,,cyclotropia,MONDO:0004894,,MeSH ID:C000721272,cyclotropia,DOID:9838,, +BMGC_DS03017,BMG_DS003993,Intermittent tropia,UMLS ID:C0152210,Intermittent squint | Intermittent tropia | Intermittent tropia (disorder),SNOMEDCT ID:74025007,,,intermittent squint,MONDO:0002152,,,intermittent squint,DOID:1942,, +BMGC_DS03018,BMG_DS003998,Esophoria,UMLS ID:C0152216,(Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) | Strabismus NOS | Esophoria | Ophthalmoplegia NOS | (Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) (disorder) | (Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) | Ophthalmoplegia NOS | Esophoria | Strabismus NOS | (Esophoria) or (strabismus NOS) or (ophthalmoplegia NOS) (disorder) | Esophoria | Esophoria (disorder) | Latent convergent squint,SNOMEDCT ID:267745004 | SNOMEDCT ID:155196009 | SNOMEDCT ID:62176008,,,,,Esotropia,MeSH ID:D004948,,,ICD10 ID:H50.51,OMIM ID:MTHU037173 +BMGC_DS03019,BMG_DS004001,Cyclophoria,UMLS ID:C0152219,Cyclophoria | Cyclophoria (disorder),SNOMEDCT ID:60017001,,,,,Ocular Motility Disorders,MeSH ID:D015835,,,ICD10 ID:H50.54, +BMGC_DS03020,BMG_DS004003,Paralytic strabismus,UMLS ID:C0152221,Paralytic squint | Incomitant dissociation | Non-comitant strabismus | Incomitant dissociation (disorder) | Paralytic strabismus (disorder) | Paralytic strabismus | Paralytic squint,SNOMEDCT ID:12942001 | SNOMEDCT ID:400942002,,,paralytic strabismus,MONDO:0001143,,,paralytic squint,DOID:10863,ICD10 ID:H49, +BMGC_DS03021,BMG_DS004004,Parinaud Syndrome,UMLS ID:C0152222,,,,,Parinaud syndrome,MONDO:0022220,Ocular Motility Disorders,MeSH ID:D015835,,,, +BMGC_DS03022,BMG_DS004005,Mechanical Strabismus,UMLS ID:C0152223,,,,,mechanical strabismus,MONDO:0004753,Strabismus,MeSH ID:D013285,mechanical strabismus,DOID:9306,, +BMGC_DS03023,BMG_DS004008,Lagophthalmos,UMLS ID:C0152226,Lagophthalmos | Defective lid closure | Poor closure eyelids | Lagophthalmos (finding) | Lagophthalmos | Lagophthalmos (disorder),SNOMEDCT ID:60735000 | SNOMEDCT ID:193936001,"Lagophthalmos, unspecified",ICD11 ID:9A03.4Z,lagophthalmos,MONDO:0001604,Lagophthalmos,MeSH ID:D000092164,lagophthalmos,DOID:12959,ICD10 ID:H02.2,OMIM ID:MTHU036832 +BMGC_DS03024,BMG_DS004009,Excessive tearing,UMLS ID:C0152227,Excessive tearing | Watery eyes | Illacrimation | Excessive tear production | Watering eye | Crocodile tears | Excessive tear production (disorder) | Tearing eyes,SNOMEDCT ID:49393005,,,excessive tearing,MONDO:0001793,,,excessive tearing,DOID:13757,,OMIM ID:MTHU075796 +BMGC_DS03025,BMG_DS004015,,UMLS ID:C0152240,,,,,septate uterus,MONDO:0015839,,,,,, +BMGC_DS03026,BMG_DS004016,,UMLS ID:C0152243,,,,,lactocele,MONDO:0001099,,,lactocele,DOID:10686,, +BMGC_DS03027,BMG_DS004019,Acne varioliformis,UMLS ID:C0152249,Acne varioliformis | Acne varioliformis (disorder) | Acne varioliformis | Acne frontalis | Acne varioliformis (disorder),SNOMEDCT ID:201210008 | SNOMEDCT ID:23894009,Other specified acneform inflammatory disorders,ICD11 ID:ED81.Y,,,,,acne,DOID:6543,ICD10 ID:L70.2, +BMGC_DS03028,BMG_DS004020,Thrombophlebitis migrans,UMLS ID:C0152250,Thrombophlebitis migrans | Thrombophlebitis migrans (disorder) | Thrombophlebitis migrans | Trousseau's syndrome | Migratory thrombophlebitis | Thrombophlebitis migrans (disorder),SNOMEDCT ID:155491005 | SNOMEDCT ID:155456002 | SNOMEDCT ID:31268005,Thrombophlebitis migrans,ICD11 ID:BD70.2,thrombophlebitis migrans,MONDO:0001954,,,thrombophlebitis migrans,DOID:14392,ICD10 ID:I82.1, +BMGC_DS03029,BMG_DS004023,Posterior synechiae,UMLS ID:C0152253,Posterior synechiae | Posterior synechiae (disorder),SNOMEDCT ID:111512005,,,,,,,,,,OMIM ID:MTHU073515 +BMGC_DS03030,BMG_DS004024,Pinguecula,UMLS ID:C0152255,Pinguecula | Chemosis of conjunctiva | Disorders of conjunctiva NOS | Symblepharon | (Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) | (Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) (disorder) | Pinguecula | Pinguicula | Pinguecula (disorder) | (Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) | Pinguecula | Symblepharon | Disorders of conjunctiva NOS | Chemosis of conjunctiva | (Disorders of conjunctiva NOS) or (chemosis) or (pinguecula) or (symblepharon) (disorder),SNOMEDCT ID:267735001 | SNOMEDCT ID:87614000 | SNOMEDCT ID:155169006,,,pinguecula,MONDO:0001179,Pinguecula,MeSH ID:D059407,pinguecula,DOID:11029,ICD10 ID:H11.15, +BMGC_DS03031,BMG_DS004026,,UMLS ID:C0152257,,,,,,,,,mature cataract,DOID:13717,, +BMGC_DS03032,BMG_DS004027,Morgagnian cataract,UMLS ID:C0152258,Morgagnian cataract | Morgagnian cataract (finding) | Morgagnian cataract (disorder) | Morgagnian cataract,SNOMEDCT ID:247065006 | SNOMEDCT ID:264443002,,,Morgagni cataract,MONDO:0001848,,,Morgagni cataract,DOID:13964,, +BMGC_DS03033,BMG_DS004029,Cystitis cystica,UMLS ID:C0152262,Cystitis cystica | Cystitis cystica (disorder),SNOMEDCT ID:13285005,,,cystitis cystica,MONDO:0004118,,,cystitis cystica,DOID:7138,, +BMGC_DS03034,BMG_DS004031,Familial erythrocytosis,UMLS ID:C0152264,Hereditary pure erythrocytosis | Familial polycythemia | Familial erythrocytosis | Familial polycythaemia | Familial erythrocytosis (disorder) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Familial erythrocytosis | Other blood diseases | Erythrocytosis - familial | Hypergammaglobulinaemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | Hypergammaglobulinemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder) | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinemia) | Erythrocytosis - familial | Other blood diseases | Familial erythrocytosis | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) | Hypergammaglobulinaemia | Hypergammaglobulinemia | (Other blood diseases) or (familial erythrocytosis) or (hypergammaglobulinaemia) (disorder),SNOMEDCT ID:17342003 | SNOMEDCT ID:267571003 | SNOMEDCT ID:154840005,Primary inherited erythrocytosis,ICD11 ID:3A80.0,familial polycythemia,MONDO:0001115,,,primary polycythemia | familial erythrocytosis 1,DOID:10780;DOID:0060652,ICD10 ID:D75.0, +BMGC_DS03035,BMG_DS004032,,UMLS ID:C0152266,,,,,"Hodgkin's lymphoma, mixed cellularity",MONDO:0004633,,,"Hodgkin's lymphoma, mixed cellularity",DOID:8654,, +BMGC_DS03036,BMG_DS004033,,UMLS ID:C0152267,,,,,"Hodgkin's lymphoma, lymphocytic depletion",MONDO:0004620,,,"Hodgkin's lymphoma, lymphocytic depletion",DOID:8628,, +BMGC_DS03037,BMG_DS004034,,UMLS ID:C0152268,,,,,nodular sclerosis classical Hodgkin lymphoma,MONDO:0004665,,,"Hodgkin's lymphoma, nodular sclerosis",DOID:8838,, +BMGC_DS03038,BMG_DS004035,,UMLS ID:C0152272,,,,,,,,,polycythemia vera,DOID:8997,, +BMGC_DS03039,BMG_DS004036,,UMLS ID:C0152275,,,,,subacute monocytic leukemia,MONDO:0004644,,,subacute monocytic leukemia,DOID:8696,, +BMGC_DS03040,BMG_DS004037,,UMLS ID:C0152276,,,,,granulocytic sarcoma,MONDO:0006237,,,myeloid sarcoma,DOID:8683,, +BMGC_DS03041,BMG_DS004039,,UMLS ID:C0152415,,,,,ankyloglossia,MONDO:0007125,,,,,,OMIM ID:106280 +BMGC_DS03042,BMG_DS004040,,UMLS ID:C0152417,,,,,congenital aortic valve stenosis,MONDO:0017735,,,aortic valve stenosis,DOID:1712,, +BMGC_DS03043,BMG_DS004041,,UMLS ID:C0152419,,,,,aortic arch interruption,MONDO:0009010,,,,,, +BMGC_DS03044,BMG_DS004042,,UMLS ID:C0152422,,,,,,,,,congenital aphakia,DOID:11367,, +BMGC_DS03045,BMG_DS004043,,UMLS ID:C0152426,,,,,craniorachischisis,MONDO:0018969,,,,,, +BMGC_DS03046,BMG_DS004044,,UMLS ID:C0152427,,,,,polydactyly,MONDO:0021003,,,polydactyly,DOID:1148,,OMIM ID:603596 +BMGC_DS03047,BMG_DS004047,,UMLS ID:C0152438,,,,,Sprengel deformity,MONDO:0008482,,,,,,OMIM ID:184400 +BMGC_DS03048,BMG_DS004048,Retinoschisis,UMLS ID:C0152439,Retinoschisis | Schisis of retina | RS - Retinoschisis | Retinoschisis (disorder) | Retinoschisis | Retinoschisis (disorder),SNOMEDCT ID:44268007 | SNOMEDCT ID:389992006,,,retinoschisis,MONDO:0004579,Retinoschisis,MeSH ID:D041441,retinoschisis,DOID:8465,,OMIM ID:MTHU006950 +BMGC_DS03049,BMG_DS004049,Corneal staphyloma,UMLS ID:C0152440,Corneal staphyloma | Corneal staphyloma (disorder),SNOMEDCT ID:193849005 | SNOMEDCT ID:52476003,,,corneal staphyloma,MONDO:0001579,,,corneal staphyloma,DOID:12753,ICD10 ID:H18.72, +BMGC_DS03050,BMG_DS004052,Urethral diverticulum,UMLS ID:C0152443,Urethral diverticulum | Urethral diverticulum (disorder),SNOMEDCT ID:90531003,Urethral diverticulum,ICD11 ID:GC06,,,,,urethral diverticulum,DOID:9341,ICD10 ID:N36.1, +BMGC_DS03051,BMG_DS004054,Hydrops of gallbladder,UMLS ID:C0152445,(Mucocele of gallbladder) or (hydrops of gallbladder) | Mucocele of gallbladder | Hydrops of gallbladder | Hydrops of gallbladder | Hydrops of gallbladder (disorder),SNOMEDCT ID:197421008 | SNOMEDCT ID:47312008,Hydrops of gallbladder,ICD11 ID:DC10.1,hydrops of gallbladder,MONDO:0004859,,,hydrops of gallbladder,DOID:9717,ICD10 ID:K82.1, +BMGC_DS03052,BMG_DS004056,Chronic glomerulonephritis,UMLS ID:C0152451,Chronic nephropathy (& [glomerulonephritis] or [nephritis]) | Nephritis - chronic | Nephropathy - chronic | Chronic glomerulonephritis | Chronic nephropathy (& [glomerulonephritis] or [nephritis]) (disorder) | (Chronic glomerulonephritis) or (nephritis - chronic) | Chronic glomerulonephritis | Nephritis - chronic | Glomeruloneph.- chronic | (Chronic glomerulonephritis) or (nephritis - chronic) (disorder) | (Chronic glomerulonephritis) or (nephritis - chronic) | Glomeruloneph.- chronic | Nephritis - chronic | Chronic glomerulonephritis | (Chronic glomerulonephritis) or (nephritis - chronic) (disorder) | Chronic glomerulonephritis | Chronic glomerulonephritis (disorder) | CGN - Chronic glomerulonephritis,SNOMEDCT ID:197612003 | SNOMEDCT ID:266614002 | SNOMEDCT ID:155852006 | SNOMEDCT ID:20917003,,,,,,,,,, +BMGC_DS03053,BMG_DS004057,Fibrosis of pericardium,UMLS ID:C0152452,Adhesive pericarditis | Adherent pericardium | Adhesive pericarditis (disorder) | Fibrosis of pericardium | Fibrosis of pericardium (disorder),SNOMEDCT ID:37715009 | SNOMEDCT ID:194965002,,,,,,,,,, +BMGC_DS03054,BMG_DS004059,Keratomalacia,UMLS ID:C0152455,Keratomalacia | Keratomalacia (disorder),SNOMEDCT ID:85149007,,,keratomalacia,MONDO:0001250,,MeSH ID:C536156,keratomalacia,DOID:11267,ICD10 ID:H18.44, +BMGC_DS03055,BMG_DS004060,Cholesterolosis of gallbladder,UMLS ID:C0152456,Cholesterolosis of gallbladder | Strawberry gallbladder | Cholesterolosis of gallbladder (disorder) | Gallbladder cholesterolosis,SNOMEDCT ID:61565001,Cholesterolosis of gallbladder,ICD11 ID:DC10.4,cholesterolosis of gallbladder,MONDO:0000987,,,strawberry gallbladder,DOID:10254,ICD10 ID:K82.4, +BMGC_DS03056,BMG_DS004061,Kayser-Fleischer ring,UMLS ID:C0152457,Kayser-Fleischer ring | Kayser-Fleischer ring (disorder),SNOMEDCT ID:77103006,,,,,,,,,ICD10 ID:H18.04,OMIM ID:MTHU038006 +BMGC_DS03057,BMG_DS004062,Leukocoria,UMLS ID:C0152458,Leukocoria | Leukocoria (disorder) | Leukocoria | Leukocoria (disorder) | Leucocoria,SNOMEDCT ID:193288000 | SNOMEDCT ID:1361009,,,,,,,leukocoria,DOID:11772,,OMIM ID:MTHU009657 +BMGC_DS03058,BMG_DS004063,Balanitis xerotica obliterans,UMLS ID:C0152460,Peyronie's disease | Balanitis xerotica obliterans | (Peyronie's disease) or (balanitis xerotica obliterans) | (Peyronie's disease) or (balanitis xerotica obliterans) (disorder) | Balanitis xerotica obliterans | Balanitis xerotica obliterans (disorder) | Balanitis xerotica obliterans | BXO - Balanitis xerotica obliterans | Balanitis xerotica obliterans (disorder) | Lichen sclerosus of glans penis | Lichen sclerosus et atrophicus of glans penis AND prepuce | Lichen sclerosus et atrophicus of glans penis AND prepuce (disorder),SNOMEDCT ID:198028006 | SNOMEDCT ID:367113004 | SNOMEDCT ID:198033005 | SNOMEDCT ID:43790000,,,balanitis xerotica obliterans,MONDO:0001725,,,balanitis xerotica obliterans,DOID:13477,, +BMGC_DS03059,BMG_DS004065,Salmonella sepsis,UMLS ID:C0152486,,,Bacterial infection of unspecified site,ICD11 ID:1C41,,,,,,,ICD10 ID:A02.1, +BMGC_DS03060,BMG_DS004072,Acute amebiasis,UMLS ID:C0152499,Acute amebiasis | Acute amoebiasis | Acute amebiasis (disorder),SNOMEDCT ID:39224005,Acute amoebiasis,ICD11 ID:1A36.00,,,,,,,ICD10 ID:A06.0, +BMGC_DS03061,BMG_DS004073,Chronic intestinal amebiasis,UMLS ID:C0152500,Chronic amebiasis | Chronic amebic dysentery | Chronic amoebic dysentery | Chronic amoebiasis | Chronic amebiasis (disorder) | Chronic intestinal amebiasis | Chronic intestinal amoebiasis | Chronic intestinal amebiasis | Chronic intestinal amoebiasis | Chronic intestinal amebiasis (disorder),SNOMEDCT ID:23874000 | SNOMEDCT ID:186117001,"Intestinal infections due to Entamoeba, unspecified",ICD11 ID:1A36.0Z,,,,,,,ICD10 ID:A06.1, +BMGC_DS03062,BMG_DS004079,Other specified protozoal intestinal diseases,UMLS ID:C0152507,Other specified protozoal intestinal diseases | Other specified protozoal intestinal diseases (disorder),SNOMEDCT ID:186127007,"Protozoal intestinal infections, unspecified",ICD11 ID:1A3Z,,,,,protozoal dysentery,DOID:14397,ICD10 ID:A07.8, +BMGC_DS03063,BMG_DS004080,Intestinal infection caused by Pseudomonas,UMLS ID:C0152515,Intestinal infection caused by Pseudomonas | Intestinal infection caused by Pseudomonas (disorder),SNOMEDCT ID:82930004,,,,,,,,,, +BMGC_DS03064,BMG_DS004081,Bacterial enteritis,UMLS ID:C0152516,Bacterial enteritis | Septic enteritis | Bacterial enteritis of intestine | Inflammation of intestine caused by bacteria | Inflammation of intestine caused by bacteria (disorder),SNOMEDCT ID:75375008,,,,,,,,,, +BMGC_DS03065,BMG_DS004082,Viral gastroenteritis,UMLS ID:C0152517,Viral: [ill-defined GIT infections (& diarrhea)] or [gastroenteritis] | Viral + ill-defined GIT inf. | Gastroent. - viral | Viral and ill-defined gastrointestinal infections | Viral gastroenteritis | Diarrhoea-viral GIT inf | Diarrhea-viral GIT inf | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] (disorder) | Viral: [ill-defined GIT infections (& diarrhea)] or [gastroenteritis] | Viral gastroenteritis | Viral + ill-defined GIT inf. | Gastroent. - viral | Viral and ill-defined gastrointestinal infections | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] | Diarrhoea-viral GIT inf | Diarrhea-viral GIT inf | Viral: [ill-defined GIT infections (& diarrhoea)] or [gastroenteritis] (disorder) | (Epidemic diarrhoea) or (viral gastroenteritis) | (Epidemic diarrhea) or (viral gastroenteritis) | Viral gastroenteritis | Epidemic diarrhea | Epidemic diarrhoea | (Epidemic diarrhoea) or (viral gastroenteritis) (disorder) | Nonbacterial gastroenteritis | Nonbacterial gastroenteritis (disorder) | Viral gastroenteritis | Viral diarrhea | Viral vomiting | Viral diarrhoea | Viral gastroenteritis (disorder),SNOMEDCT ID:266178009 | SNOMEDCT ID:154277007 | SNOMEDCT ID:186166004 | SNOMEDCT ID:66550001 | SNOMEDCT ID:111843007,,,,,,,,,, +BMGC_DS03066,BMG_DS004086,Tuberculous pleurisy in primary progressive tuberculosis,UMLS ID:C0152531,Tuberculous pleurisy in primary progressive tuberculosis | Tuberculous pleurisy in primary progressive tuberculosis (disorder) | Primary progressive tuberculosis with tuberculous pleurisy,SNOMEDCT ID:186172004,,,,,,,pleural tuberculosis,DOID:106,, +BMGC_DS03067,BMG_DS004094,Tuberculous pneumothorax,UMLS ID:C0152600,Tuberculous pneumothorax | Tuberculous pneumothorax (disorder),SNOMEDCT ID:29731002,"Respiratory tuberculosis, confirmed",ICD11 ID:1B10.0,tuberculous pneumothorax,MONDO:0004813,,,tuberculous pneumothorax,DOID:9534,ICD10 ID:A15.0, +BMGC_DS03068,BMG_DS004102,,UMLS ID:C0152724,,,,,,,,,intestinal tuberculosis,DOID:13282,, +BMGC_DS03069,BMG_DS004107,Tuberculosis of urinary bladder,UMLS ID:C0152793,Tuberculosis of bladder | Tuberculosis of urinary bladder (disorder) | Tuberculosis of urinary bladder | TB (tuberculosis) of urinary bladder,SNOMEDCT ID:32268008,,,urinary bladder tuberculosis,MONDO:0004272,,,bladder tuberculosis,DOID:754,, +BMGC_DS03070,BMG_DS004108,Tuberculosis of ureter,UMLS ID:C0152800,Tuberculosis of ureter | Tuberculosis of ureter (disorder) | TB - Tuberculosis of ureter,SNOMEDCT ID:81359005,,,ureter tuberculosis,MONDO:0004517,,,ureter tuberculosis,DOID:827,, +BMGC_DS03071,BMG_DS004109,Tuberculosis of epididymis,UMLS ID:C0152814,Tuberculosis of epididymis | Tuberculous epididymitis | Tuberculosis of epididymis (disorder),SNOMEDCT ID:83652003,,,tuberculous epididymitis,MONDO:0001537,,,tuberculous epididymitis,DOID:1251,, +BMGC_DS03072,BMG_DS004111,Tuberculous oophoritis and salpingitis,UMLS ID:C0152828,,,,,,,,,tuberculous salpingitis | tuberculous oophoritis,DOID:2148;DOID:0050166,ICD10 ID:A18.17, +BMGC_DS03073,BMG_DS004114,Tuberculosis of ear,UMLS ID:C0152874,Tuberculosis of ear | Tuberculosis of ear (disorder),SNOMEDCT ID:186269001,,,,,,,,,, +BMGC_DS03074,BMG_DS004117,Tuberculosis of esophagus,UMLS ID:C0152902,Tuberculosis of esophagus | Tuberculosis of oesophagus | Tuberculosis of esophagus (disorder),SNOMEDCT ID:15284007,,,esophageal tuberculosis,MONDO:0004189,,,esophageal tuberculosis,DOID:7332,, +BMGC_DS03075,BMG_DS004120,Septicemic Plague,UMLS ID:C0152936,,,,,septicemic plague,MONDO:0005956,Plague,MeSH ID:D010930,septicemic plague,DOID:3481,, +BMGC_DS03076,BMG_DS004121,Primary pneumonic plague,UMLS ID:C0152937,Primary pneumonic plague | Primary pneumonic plague (disorder),SNOMEDCT ID:35339003,,,,,,,pneumonic plague,DOID:10398,, +BMGC_DS03077,BMG_DS004122,Secondary pneumonic plague,UMLS ID:C0152938,Secondary pneumonic plague | Secondary pneumonic plague (disorder),SNOMEDCT ID:67525007,,,,,,,pneumonic plague,DOID:10398,, +BMGC_DS03078,BMG_DS004123,Ulceroglandular tularemia,UMLS ID:C0152941,Ulceroglandular tularemia | Ulceroglandular tularaemia | Ulceroglandular tularemia (disorder),SNOMEDCT ID:37722001,Ulceroglandular tularaemia,ICD11 ID:1B94.0,ulceroglandular tularemia,MONDO:0001413,,,ulceroglandular tularemia,DOID:11990,ICD10 ID:A21.0, +BMGC_DS03079,BMG_DS004124,Enteric tularemia,UMLS ID:C0152942,Enteric tularemia | Intestinal tularemia | Typhoidal tularaemia | Enteric tularaemia | Intestinal tularaemia | Typhoidal tularemia | Typhoidal tularemia (disorder) | Enteric tularemia (disorder) | Enteric tularaemia | Enteric tularemia | Intestinal tularaemia | Intestinal tularemia | Enteric tularemia | Cryptogenic tularemia | Intestinal tularemia | Typhoidal tularemia | Oropharyngeal tularemia | Oropharyngeal tularaemia | Typhoidal tularaemia | Enteric tularaemia | Intestinal tularaemia | Cryptogenic tularaemia | Enteric tularemia (disorder),SNOMEDCT ID:186292001 | SNOMEDCT ID:398599000 | SNOMEDCT ID:62769007,,,,,,,gastrointestinal tularemia,DOID:14239,, +BMGC_DS03080,BMG_DS004125,Oculoglandular tularemia,UMLS ID:C0152944,Oculoglandular tularemia | Oculoglandular tularaemia | Oculoglandular tularemia (disorder),SNOMEDCT ID:73363000,Other specified tularaemia,ICD11 ID:1B94.Y,oculoglandular tularemia,MONDO:0001665,,,oculoglandular tularemia,DOID:13226,ICD10 ID:A21.1, +BMGC_DS03081,BMG_DS004126,Gastrointestinal anthrax,UMLS ID:C0152945,Gastrointestinal anthrax | Gastrointestinal anthrax (disorder),SNOMEDCT ID:186302005 | SNOMEDCT ID:111798006,Anthrax,ICD11 ID:1B97,gastrointestinal anthrax,MONDO:0001701,,MeSH ID:C571911,gastrointestinal anthrax,DOID:13386,ICD10 ID:A22.2, +BMGC_DS03082,BMG_DS004127,Anthrax sepsis,UMLS ID:C0152946,,,Anthrax,ICD11 ID:1B97,,,,,,,ICD10 ID:A22.7, +BMGC_DS03083,BMG_DS004129,Diphtheritic myocarditis,UMLS ID:C0152952,Diphtheritic myocarditis | Diphtheritic myocarditis (disorder),SNOMEDCT ID:26117009,,,diphtheritic myocarditis,MONDO:0041259,,,,,ICD10 ID:A36.81, +BMGC_DS03084,BMG_DS004130,Diphtheritic peritonitis,UMLS ID:C0152953,Diphtheritic peritonitis | Diphtheritic peritonitis (disorder),SNOMEDCT ID:13596001,,,diphtheritic peritonitis,MONDO:0001682,,,diphtheritic peritonitis,DOID:13310,ICD10 ID:A36.89, +BMGC_DS03085,BMG_DS004131,Diphtheritic cystitis,UMLS ID:C0152954,Diphtheritic cystitis | Diphtheritic cystitis (disorder) | Diphtheritic cystitis | Diphtheritic cystitis (disorder) | Cystitis in diphtheria,SNOMEDCT ID:197847008 | SNOMEDCT ID:48278001,,,diphtheritic cystitis,MONDO:0001681,,,diphtheritic cystitis,DOID:13306,ICD10 ID:A36.85, +BMGC_DS03086,BMG_DS004138,Streptococcal sepsis,UMLS ID:C0152964,,,,,,,,,,,ICD10 ID:A40, +BMGC_DS03087,BMG_DS004140,Septicemia due to anaerobes,UMLS ID:C0152967,Anaerobic septicemia | Anaerobic septicaemia | Anaerobic septicemia (disorder) | Septicaemia due to anaerobes | Septicemia due to anaerobes,SNOMEDCT ID:1976008,,,,,,,,,, +BMGC_DS03088,BMG_DS004143,Acute nonparalytic poliomyelitis,UMLS ID:C0152998,"Acute nonparalytic poliomyelitis | Anterior acute poliomyelitis specified as nonparalytic | Epidemic acute poliomyelitis specified as non paralytic | Anterior acute poliomyelitis, nonparalytic | Epidemic acute poliomyelitis, non paralytic | Acute nonparalytic poliomyelitis (disorder) | Acute non-paralytic poliomyelitis",SNOMEDCT ID:14535005,Acute poliomyelitis,ICD11 ID:1C81,acute nonparalytic poliomyelitis,MONDO:0003231,,,nonparalytic poliomyelitis,DOID:4986,ICD10 ID:A80.4, +BMGC_DS03089,BMG_DS004153,Herpes zoster keratoconjunctivitis,UMLS ID:C0153027,Herpes zoster keratoconjunctivitis | Herpes zoster keratoconjunctivitis (disorder) | Herpes zoster with keratoconjunctivitis,SNOMEDCT ID:42448002,,,,,,,,,ICD10 ID:B02.33, +BMGC_DS03090,BMG_DS004158,Herpes simplex eyelid dermatitis,UMLS ID:C0153037,Herpes simplex eyelid dermatitis | Herpes simplex eyelid dermatitis (disorder) | Herpes simplex dermatitis of eyelid,SNOMEDCT ID:186544000,,,,,,,eczema herpeticum,DOID:9123,, +BMGC_DS03091,BMG_DS004161,Herpetic whitlow,UMLS ID:C0153042,Herpetic whitlow | Herpetic felon | Herpes simplex whitlow | Herpetic whitlow (disorder),SNOMEDCT ID:43891009,,,herpetic whitlow,MONDO:0004616,,,herpetic whitlow,DOID:8607,, +BMGC_DS03092,BMG_DS004176,"Encephalomyelitis, Western Equine",UMLS ID:C0153064,,,,,western equine encephalitis,MONDO:0019380,"Encephalomyelitis, Western Equine",MeSH ID:D020241,Western equine encephalitis,DOID:10843,, +BMGC_DS03093,BMG_DS004177,"Encephalomyelitis, Eastern Equine",UMLS ID:C0153065,,,,,eastern equine encephalitis,MONDO:0005736,"Encephalomyelitis, Eastern Equine",MeSH ID:D020242,Eastern equine encephalitis,DOID:10841,, +BMGC_DS03094,BMG_DS004178,Murray valley encephalitis,UMLS ID:C0153066,Australian encephalitis | Australian arboencephalitis | Australian X disease | MVE - Murray Valley encephalitis | Murray River encephalitis | Murray Valley encephalitis | Murray Valley encephalitis (disorder),SNOMEDCT ID:66454007,,,Murray valley encephalitis,MONDO:0001137,,,Murray Valley encephalitis,DOID:10842,, +BMGC_DS03095,BMG_DS004201,"Trachoma, initial stage",UMLS ID:C0153107,"Trachoma, initial stage | Trachoma dubium | Trachoma dubium - initial stage | Trachoma, initial stage (disorder)",SNOMEDCT ID:29976007,,,,,,,trachoma,DOID:11265,, +BMGC_DS03096,BMG_DS004202,"Trachoma, active stage",UMLS ID:C0153108,"Trachoma, active stage | Trachoma, active stage (disorder)",SNOMEDCT ID:52812002,,,,,,,trachoma,DOID:11265,, +BMGC_DS03097,BMG_DS004205,Acute Peripheral Vestibulopathy,UMLS ID:C0153113,,,,,,,Vestibular Neuronitis,MeSH ID:D020338,,,, +BMGC_DS03098,BMG_DS004211,Mixed malaria,UMLS ID:C0153121,Mixed malaria | Malaria by more than one parasite | Mixed malaria (disorder),SNOMEDCT ID:21070001,,,mixed malaria,MONDO:0001944,,,mixed malaria,DOID:14325,, +BMGC_DS03099,BMG_DS004217,"Neurosyphilis, Juvenile",UMLS ID:C0153132,,,,,,,Neurosyphilis,MeSH ID:D009494,late congenital syphilis,DOID:10039,, +BMGC_DS03100,BMG_DS004220,,UMLS ID:C0153136,,,,,,,,,late congenital syphilis,DOID:10039,, +BMGC_DS03101,BMG_DS004221,Early symptomatic syphilis,UMLS ID:C0153139,Early symptomatic syphilis | Early symptomatic syphilis (disorder),SNOMEDCT ID:186846005,,,,,,,primary syphilis,DOID:4156,, +BMGC_DS03102,BMG_DS004238,Syphilitic aseptic meningitis,UMLS ID:C0153166,,,,,syphilitic meningitis,MONDO:0000936,,MeSH ID:C536775,syphilitic meningitis,DOID:10073,, +BMGC_DS03103,BMG_DS004239,"Neurosyphilis, Asymptomatic",UMLS ID:C0153167,,,,,asymptomatic neurosyphilis,MONDO:0000927,Neurosyphilis,MeSH ID:D009494,asymptomatic neurosyphilis,DOID:10035,, +BMGC_DS03104,BMG_DS004240,Syphilitic encephalitis,UMLS ID:C0153168,Syphilitic encephalitis | Syphilitic encephalitis (disorder),SNOMEDCT ID:26135000,,,syphilitic encephalitis,MONDO:0000937,,,syphilitic encephalitis,DOID:10081,, +BMGC_DS03105,BMG_DS004255,"Syphilis, tertiary",UMLS ID:C0153188,,,,,tertiary syphilis,MONDO:0004497,,MeSH ID:C536774,tertiary syphilis,DOID:8200,, +BMGC_DS03106,BMG_DS004256,Acute gonococcal cystitis,UMLS ID:C0153191,Acute gonococcal cystitis | Acute gonococcal cystitis (disorder) | Bladder gonorrhoea - acute | Bladder gonorrhea - acute,SNOMEDCT ID:24868007,,,acute gonococcal cystitis,MONDO:0001777,,,acute gonococcal cystitis,DOID:13690,, +BMGC_DS03107,BMG_DS004257,Acute gonococcal prostatitis,UMLS ID:C0153192,Acute gonococcal prostatitis | Acute gonococcal prostatitis (disorder),SNOMEDCT ID:111806005,,,acute gonococcal prostatitis,MONDO:0001838,,,acute gonococcal prostatitis,DOID:13943,, +BMGC_DS03108,BMG_DS004258,Acute gonococcal epididymo-orchitis,UMLS ID:C0153193,Acute gonococcal epididymo-orchitis | Acute gonococcal epididymo-orchitis (disorder) | Acute gonococcal: [epididymo-orchitis] or [orchitis] | Acute gonococcal orchitis | Acute gonococcal epididymo-orchitis | Acute gonococcal: [epididymo-orchitis] or [orchitis] (disorder),SNOMEDCT ID:30168008 | SNOMEDCT ID:186912008,,,acute gonococcal epididymo-orchitis,MONDO:0001125,,,acute gonococcal epididymo-orchitis,DOID:10802,, +BMGC_DS03109,BMG_DS004260,Acute gonococcal cervicitis,UMLS ID:C0153195,Acute gonococcal cervicitis | Acute inflammation of cervix uteri caused by Neisseria gonorrhoeae (disorder) | Acute inflammation of cervix uteri caused by Neisseria gonorrhoeae,SNOMEDCT ID:20943002,,,acute gonococcal cervicitis,MONDO:0001080,,,acute gonococcal cervicitis,DOID:10615,, +BMGC_DS03110,BMG_DS004261,Acute gonococcal endometritis,UMLS ID:C0153196,Uterus - acute gonorrhea | Acute gonococcal endometritis | Uterus - acute gonorrhoea | Acute gonococcal endometritis (disorder) | Acute gonococcal endometritis | Uterus - acute gonorrhoea | Uterus - acute gonorrhea | Acute gonococcal endometritis (disorder),SNOMEDCT ID:186913003 | SNOMEDCT ID:65295003,,,acute gonococcal endometritis,MONDO:0004264,,,acute gonococcal endometritis,DOID:7527,, +BMGC_DS03111,BMG_DS004265,Chronic gonococcal seminal vesiculitis,UMLS ID:C0153205,Chronic gonococcal seminal vesiculitis | Chronic gonococcal seminal vesiculitis (disorder),SNOMEDCT ID:23975003,,,seminal vesicle chronic gonorrhea,MONDO:0001025,,,seminal vesicle chronic gonorrhea,DOID:10399,, +BMGC_DS03112,BMG_DS004266,Chronic gonococcal cervicitis,UMLS ID:C0153206,Chronic gonococcal cervicitis | Chronic inflammation of cervix uteri caused by Neisseria gonorrhoeae (disorder) | Chronic inflammation of cervix uteri caused by Neisseria gonorrhoeae,SNOMEDCT ID:76802005,,,chronic gonorrhea of cervix,MONDO:0002029,,,chronic gonorrhea of cervix,DOID:1512,, +BMGC_DS03113,BMG_DS004268,Chronic gonococcal salpingitis,UMLS ID:C0153208,Chronic gonococcal salpingitis | Chronic gonococcal salpingitis (disorder),SNOMEDCT ID:53529004,,,chronic gonococcal salpingitis,MONDO:0001575,,,chronic gonococcal salpingitis,DOID:12718,, +BMGC_DS03114,BMG_DS004270,Gonococcal iridocyclitis,UMLS ID:C0153212,Gonococcal iridocyclitis | Gonococcal iridocyclitis (disorder),SNOMEDCT ID:186922002 | SNOMEDCT ID:9091006,,,gonococcal iridocyclitis,MONDO:0004774,,,gonococcal iridocyclitis,DOID:9384,ICD10 ID:A54.32, +BMGC_DS03115,BMG_DS004271,Gonococcal endophthalmia,UMLS ID:C0153213,Gonococcal endophthalmia | Gonococcal endophthalmia (disorder),SNOMEDCT ID:186923007 | SNOMEDCT ID:111807001,,,gonococcal endophthalmia,MONDO:0004853,,,gonococcal endophthalmia,DOID:9698,ICD10 ID:A54.39, +BMGC_DS03116,BMG_DS004272,Gonococcal keratitis,UMLS ID:C0153214,Gonococcal keratitis | Gonococcal keratitis (disorder) | Gonococcal keratitis | Keratitis blennorrhagica | Gonococcal keratitis (disorder),SNOMEDCT ID:186924001 | SNOMEDCT ID:40149008,,,gonococcal keratitis,MONDO:0004852,,,gonococcal keratitis,DOID:9697,ICD10 ID:A54.33, +BMGC_DS03117,BMG_DS004274,Gonococcal joint infection,UMLS ID:C0153216,Gonococcal infection of joint | Gonococcal arthritis | Gonococcal rheumatism | Gonococcal joint infection | Gonococcal infection of joint (disorder),SNOMEDCT ID:44743006,,,gonococcal infection of joint,MONDO:0041903,,,,,, +BMGC_DS03118,BMG_DS004275,Gonococcal bursitis,UMLS ID:C0153218,Gonococcal bursitis | Gonococcal bursitis (disorder) | Gonococcal bursitis | Bursitis caused by Neisseria gonorrhoeae (disorder) | Bursitis caused by Neisseria gonorrhoeae,SNOMEDCT ID:186928003 | SNOMEDCT ID:46699001,,,gonococcal bursitis,MONDO:0001719,,,gonococcal bursitis,DOID:13453,ICD10 ID:A54.49, +BMGC_DS03119,BMG_DS004276,Gonococcal spondylitis,UMLS ID:C0153219,Gonococcal spondylitis | Gonococcal spondylitis (disorder),SNOMEDCT ID:186929006 | SNOMEDCT ID:53664003,,,gonococcal spondylitis,MONDO:0001640,,,gonococcal spondylitis,DOID:13127,, +BMGC_DS03120,BMG_DS004279,Gonococcal meningitis,UMLS ID:C0153225,Gonococcal meningitis | Gonococcal meningitis (disorder) | Meningitis due to gonococcus | Gonococcal meningitis | Gonococcal meningitis (disorder),SNOMEDCT ID:151004 | SNOMEDCT ID:186935006,,,,,,,,,ICD10 ID:A54.81, +BMGC_DS03121,BMG_DS004281,Gonococcal endocarditis,UMLS ID:C0153227,Gonococcal endocarditis | Gonococcal endocarditis (disorder) | Gonococcal endocarditis | Gonococcal endocarditis (disorder) | Endocarditis - gonococcal,SNOMEDCT ID:186937003 | SNOMEDCT ID:61048000,,,,,,,,,ICD10 ID:A54.83, +BMGC_DS03122,BMG_DS004285,Multiple papillomata and wet crab yaws,UMLS ID:C0153234,,,Secondary yaws,ICD11 ID:1C1D.1,,,,,late yaws,DOID:10567,ICD10 ID:A66.1, +BMGC_DS03123,BMG_DS004288,Latent yaws,UMLS ID:C0153240,Latent yaws | Latent yaws (disorder),SNOMEDCT ID:186973005,Latent yaws,ICD11 ID:1C1D.3,latent yaws,MONDO:0040925,,,,,ICD10 ID:A66.8, +BMGC_DS03124,BMG_DS004294,tinea manus,UMLS ID:C0153246,,,,,tinea manuum,MONDO:0001699,,MeSH ID:C000656824,tinea manuum,DOID:13369,, +BMGC_DS03125,BMG_DS004295,Black piedra,UMLS ID:C0153249,Black piedra | Piedra due to Piedraia hortae | Black piedra (disorder),SNOMEDCT ID:33666009,Black piedra,ICD11 ID:1F2D.3,black piedra,MONDO:0005669,,,black piedra,DOID:12711,ICD10 ID:B36.3, +BMGC_DS03126,BMG_DS004298,Systemic candidiasis,UMLS ID:C0153252,Disseminated candidiasis | Systemic candidiasis | Disseminated candidiasis (disorder) | Disseminated candidosis | Invasive candidiasis | Disseminated candida,SNOMEDCT ID:70572005,,ICD11 ID:1F23.Y/1G40,disseminated candidiasis,MONDO:0042233,,MeSH ID:C536777,,,ICD10 ID:B37.7, +BMGC_DS03127,BMG_DS004300,Candidal endocarditis,UMLS ID:C0153254,Candidal endocarditis | Candidal endocarditis (disorder),SNOMEDCT ID:63553008,,ICD11 ID:1F23.3Y/BB40,,,,,,,ICD10 ID:B37.6, +BMGC_DS03128,BMG_DS004302,Candidal meningitis,UMLS ID:C0153256,Candidal meningitis | Candidal meningitis (disorder),SNOMEDCT ID:45021001,Candida meningitis,ICD11 ID:1F23.30,,,,,,,ICD10 ID:B37.5,OMIM ID:MTHU067521 +BMGC_DS03129,BMG_DS004303,Primary pulmonary coccidioidomycosis,UMLS ID:C0153257,Primary pulmonary coccidioidomycosis | San Joaquin Valley fever | Coccidioidal pneumonitis | Coccidioidomycotic pneumonitis | Desert rheumatism | Primary pulmonary coccidioidomycosis (disorder) | Primary pulmonary coccidioidomycosis | Primary pulmonary coccidioidomycosis (disorder),SNOMEDCT ID:88036000 | SNOMEDCT ID:187026005,,,,,,,,,, +BMGC_DS03130,BMG_DS004305,Histoplasma capsulatum Infection,UMLS ID:C0153261,,,,,,,Histoplasmosis,MeSH ID:D006660,American histoplasmosis,DOID:1759,, +BMGC_DS03131,BMG_DS004309,,UMLS ID:C0153270,,,,,,,,,African histoplasmosis,DOID:11315,, +BMGC_DS03132,BMG_DS004314,,UMLS ID:C0153277,,,,,histoplasmosis meningitis,MONDO:0001471,,,histoplasmosis meningitis,DOID:12246,, +BMGC_DS03133,BMG_DS004315,Histoplasmosis with retinitis,UMLS ID:C0153278,Histoplasmosis with retinitis | Histoplasmosis with retinitis (disorder),SNOMEDCT ID:187058000,,,histoplasmosis retinitis,MONDO:0001263,,,histoplasmosis retinitis,DOID:11316,, +BMGC_DS03134,BMG_DS004316,Histoplasmosis with pericarditis,UMLS ID:C0153279,Histoplasmosis with pericarditis | Histoplasmosis with pericarditis (disorder),SNOMEDCT ID:187059008,,,Histoplasma pericarditis,MONDO:0000981,,,histoplasmosis pericarditis,DOID:10234,, +BMGC_DS03135,BMG_DS004319,Echinococcus granulosus infection of liver,UMLS ID:C0153289,Echinococcus granulosus infection of liver | Echinococcus granulosus infection of liver (disorder),SNOMEDCT ID:20790006,Echinococcus infection of liver,ICD11 ID:1F73.0,,,,,,,ICD10 ID:B67.0, +BMGC_DS03136,BMG_DS004320,Echinococcus granulosus infection of lung,UMLS ID:C0153290,Echinococcus granulosus infection of lung | Echinococcus granulosus infection of lung (disorder) | Echinococcus granulosus pulmonary infection | Echinococcus granulosus lung infection,SNOMEDCT ID:75388006,Echinococcus infection of lung,ICD11 ID:1F73.1,,,,,,,ICD10 ID:B67.1, +BMGC_DS03137,BMG_DS004327,Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nemata,UMLS ID:C0153303,Mixed intestinal helminthiasis | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nemata | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda | Mixed intestinal infection caused by Cestoda and/or Trematoda and/or Phylum Nematoda (disorder),SNOMEDCT ID:90679001,,,,,,,,,, +BMGC_DS03138,BMG_DS004341,,UMLS ID:C0153340,,,,,lip cancer,MONDO:0006834,,,lip cancer,DOID:8564,, +BMGC_DS03139,BMG_DS004342,,UMLS ID:C0153346,,,,,,,,,lip cancer,DOID:8564,, +BMGC_DS03140,BMG_DS004343,,UMLS ID:C0153347,,,,,,,,,lip cancer,DOID:8564,, +BMGC_DS03141,BMG_DS004344,,UMLS ID:C0153349,,,,,tongue cancer,MONDO:0004631,,,tongue cancer,DOID:8649,, +BMGC_DS03142,BMG_DS004345,,UMLS ID:C0153350,,,,,,,,,tongue cancer,DOID:8649,, +BMGC_DS03143,BMG_DS004346,,UMLS ID:C0153351,,,,,,,,,tongue cancer,DOID:8649,, +BMGC_DS03144,BMG_DS004347,,UMLS ID:C0153356,,,,,,,,,tongue cancer,DOID:8649,, +BMGC_DS03145,BMG_DS004348,,UMLS ID:C0153360,,,,,submandibular gland cancer,MONDO:0004724,,,submandibular gland cancer,DOID:9173,, +BMGC_DS03146,BMG_DS004349,,UMLS ID:C0153361,,,,,sublingual gland cancer,MONDO:0004667,,,sublingual gland cancer,DOID:8849,, +BMGC_DS03147,BMG_DS004350,,UMLS ID:C0153362,,,,,,,,,salivary gland cancer,DOID:8850,, +BMGC_DS03148,BMG_DS004351,,UMLS ID:C0153364,,,,,gingival cancer,MONDO:0005507,,,gum cancer,DOID:8602,, +BMGC_DS03149,BMG_DS004352,,UMLS ID:C0153365,,,,,upper gum cancer,MONDO:0004615,,,upper gum cancer,DOID:8601,, +BMGC_DS03150,BMG_DS004353,,UMLS ID:C0153368,,,,,malignant tumor of floor of mouth,MONDO:0021320,,,oral cavity cancer,DOID:8618,, +BMGC_DS03151,BMG_DS004354,,UMLS ID:C0153369,,,,,,,,,oral cavity cancer,DOID:8618,, +BMGC_DS03152,BMG_DS004355,,UMLS ID:C0153373,,,,,cheek mucosa cancer,MONDO:0004645,,,cheek mucosa cancer,DOID:8702,, +BMGC_DS03153,BMG_DS004356,,UMLS ID:C0153374,,,,,vestibule of mouth cancer,MONDO:0004727,,,vestibule of mouth cancer,DOID:9188,, +BMGC_DS03154,BMG_DS004357,,UMLS ID:C0153375,,,,,hard palate cancer,MONDO:0004719,,,hard palate cancer,DOID:9149,, +BMGC_DS03155,BMG_DS004358,,UMLS ID:C0153376,,,,,soft palate cancer,MONDO:0004611,,,soft palate cancer,DOID:8578,, +BMGC_DS03156,BMG_DS004359,,UMLS ID:C0153377,,,,,uvula cancer,MONDO:0004624,,,uvula cancer,DOID:8635,, +BMGC_DS03157,BMG_DS004360,,UMLS ID:C0153379,,,,,retromolar area cancer,MONDO:0004682,,,retromolar area cancer,DOID:8930,, +BMGC_DS03158,BMG_DS004362,,UMLS ID:C0153382,,,,,oropharynx cancer,MONDO:0004608,,,oropharynx cancer,DOID:8557,, +BMGC_DS03159,BMG_DS004363,,UMLS ID:C0153384,,,,,tonsillar fossa cancer,MONDO:0004690,,,tonsillar fossa cancer,DOID:8969,, +BMGC_DS03160,BMG_DS004364,,UMLS ID:C0153385,,,,,tonsillar pillar cancer,MONDO:0004642,,,tonsillar pillar cancer,DOID:8688,, +BMGC_DS03161,BMG_DS004365,,UMLS ID:C0153386,,,,,vallecula cancer,MONDO:0004607,,,vallecula cancer,DOID:8556,, +BMGC_DS03162,BMG_DS004366,,UMLS ID:C0153388,,,,,,,,,oropharynx cancer,DOID:8557,, +BMGC_DS03163,BMG_DS004367,,UMLS ID:C0153389,,,,,,,,,oropharynx cancer,DOID:8557,, +BMGC_DS03164,BMG_DS004368,,UMLS ID:C0153390,,,,,,,,,oropharynx cancer,DOID:8557,, +BMGC_DS03165,BMG_DS004369,,UMLS ID:C0153392,,,,,malignant tumor of nasopharynx,MONDO:0021315,,,nasopharynx carcinoma,DOID:9261,, +BMGC_DS03166,BMG_DS004370,,UMLS ID:C0153393,,,,,,,,,nasopharynx carcinoma,DOID:9261,, +BMGC_DS03167,BMG_DS004371,,UMLS ID:C0153394,,,,,,,,,nasopharynx carcinoma,DOID:9261,, +BMGC_DS03168,BMG_DS004372,,UMLS ID:C0153395,,,,,,,,,nasopharynx carcinoma,DOID:9261,, +BMGC_DS03169,BMG_DS004373,,UMLS ID:C0153396,,,,,,,,,nasopharynx carcinoma,DOID:9261,, +BMGC_DS03170,BMG_DS004374,,UMLS ID:C0153398,,,,,hypopharynx cancer,MONDO:0005806,,,hypopharynx cancer,DOID:8533,, +BMGC_DS03171,BMG_DS004375,,UMLS ID:C0153400,,,,,pyriform sinus cancer,MONDO:0004733,,,pyriform sinus cancer,DOID:9235,, +BMGC_DS03172,BMG_DS004376,,UMLS ID:C0153401,,,,,aryepiglottic fold cancer,MONDO:0004637,,,aryepiglottic fold cancer,DOID:8663,, +BMGC_DS03173,BMG_DS004378,,UMLS ID:C0153406,,,,,Waldeyer's ring cancer,MONDO:0004685,,,Waldeyer's ring cancer,DOID:8937,, +BMGC_DS03174,BMG_DS004380,,UMLS ID:C0153413,,,,,,,,,esophageal cancer,DOID:5041,, +BMGC_DS03175,BMG_DS004381,,UMLS ID:C0153414,,,,,,,,,esophageal cancer,DOID:5041,, +BMGC_DS03176,BMG_DS004382,,UMLS ID:C0153415,,,,,,,,,esophageal cancer,DOID:5041,, +BMGC_DS03177,BMG_DS004383,,UMLS ID:C0153416,,,,,,,,,esophageal cancer,DOID:5041,, +BMGC_DS03178,BMG_DS004384,,UMLS ID:C0153417,,,,,cardia cancer,MONDO:0001063,,,cardia cancer,DOID:10548,, +BMGC_DS03179,BMG_DS004385,,UMLS ID:C0153418,,,,,pylorus cancer,MONDO:0001061,,,pylorus cancer,DOID:10544,, +BMGC_DS03180,BMG_DS004386,,UMLS ID:C0153419,,,,,pyloric antrum cancer,MONDO:0001062,,,pyloric antrum cancer,DOID:10547,, +BMGC_DS03181,BMG_DS004387,,UMLS ID:C0153420,,,,,,,,,gastric fundus cancer,DOID:10538,, +BMGC_DS03182,BMG_DS004388,,UMLS ID:C0153421,,,,,,,,,stomach cancer,DOID:10534,, +BMGC_DS03183,BMG_DS004389,,UMLS ID:C0153422,,,,,,,,,stomach cancer,DOID:10534,, +BMGC_DS03184,BMG_DS004390,,UMLS ID:C0153423,,,,,,,,,stomach cancer,DOID:10534,, +BMGC_DS03185,BMG_DS004391,,UMLS ID:C0153425,,,,,small intestine cancer,MONDO:0000956,,,small intestine cancer,DOID:10154,, +BMGC_DS03186,BMG_DS004392,,UMLS ID:C0153426,,,,,duodenum cancer,MONDO:0000920,,,duodenum cancer,DOID:10021,, +BMGC_DS03187,BMG_DS004393,,UMLS ID:C0153427,,,,,jejunal cancer,MONDO:0006815,,,jejunal cancer,DOID:13499,, +BMGC_DS03188,BMG_DS004394,,UMLS ID:C0153428,,,,,,,,,ileum cancer,DOID:10153,, +BMGC_DS03189,BMG_DS004395,,UMLS ID:C0153429,,,,,Meckel diverticulum cancer,MONDO:0000954,,,Meckel's diverticulum cancer,DOID:10152,, +BMGC_DS03190,BMG_DS004396,,UMLS ID:C0153433,,,,,hepatic flexure cancer,MONDO:0002357,,,hepatic flexure cancer,DOID:260,, +BMGC_DS03191,BMG_DS004397,,UMLS ID:C0153434,,,,,transverse colon cancer,MONDO:0002361,,,transverse colon cancer,DOID:261,, +BMGC_DS03192,BMG_DS004398,,UMLS ID:C0153435,,,,,descending colon cancer,MONDO:0001462,,,descending colon cancer,DOID:12190,, +BMGC_DS03193,BMG_DS004399,,UMLS ID:C0153436,,,,,sigmoid colon cancer,MONDO:0001464,,,sigmoid colon cancer,DOID:12192,, +BMGC_DS03194,BMG_DS004400,,UMLS ID:C0153437,,,,,cecum cancer,MONDO:0002033,,,cecum cancer,DOID:1521,, +BMGC_DS03195,BMG_DS004401,,UMLS ID:C0153439,,,,,ascending colon cancer,MONDO:0002238,,,ascending colon cancer,DOID:218,, +BMGC_DS03196,BMG_DS004402,,UMLS ID:C0153440,,,,,splenic flexure cancer,MONDO:0001463,,,splenic flexure cancer,DOID:12191,, +BMGC_DS03197,BMG_DS004403,,UMLS ID:C0153443,,,,,rectosigmoid junction cancer,MONDO:0002425,,,rectosigmoid junction cancer,DOID:2782,, +BMGC_DS03198,BMG_DS004404,,UMLS ID:C0153445,,,,,anal canal cancer,MONDO:0000405,,,anus cancer,DOID:14110,, +BMGC_DS03199,BMG_DS004405,,UMLS ID:C0153446,,,,,anus cancer,MONDO:0001879,,,anus cancer,DOID:14110,, +BMGC_DS03200,BMG_DS004406,,UMLS ID:C0153452,,,,,gallbladder cancer,MONDO:0005411,,,gallbladder cancer,DOID:3121,, +BMGC_DS03201,BMG_DS004407,,UMLS ID:C0153453,,,,,malignant tumor of extrahepatic bile duct,MONDO:0021321,,,bile duct cancer,DOID:4606,, +BMGC_DS03202,BMG_DS004408,,UMLS ID:C0153454,,,,,ampulla of vater cancer,MONDO:0000919,,,ampulla of Vater cancer,DOID:10020,, +BMGC_DS03203,BMG_DS004409,,UMLS ID:C0153458,,,,,,,,,pancreatic cancer,DOID:1793,, +BMGC_DS03204,BMG_DS004410,,UMLS ID:C0153459,,,,,,,,,pancreatic cancer,DOID:1793,, +BMGC_DS03205,BMG_DS004411,,UMLS ID:C0153460,,,,,,,,,pancreatic cancer,DOID:1793,, +BMGC_DS03206,BMG_DS004412,,UMLS ID:C0153461,,,,,,,,,pancreatic ductal carcinoma,DOID:3587,, +BMGC_DS03207,BMG_DS004413,,UMLS ID:C0153463,,,,,,,,,pancreatic cancer,DOID:1793,, +BMGC_DS03208,BMG_DS004414,,UMLS ID:C0153464,,,,,,,,,retroperitoneal cancer,DOID:5875,, +BMGC_DS03209,BMG_DS004415,,UMLS ID:C0153465,,,,,retroperitoneal cancer,MONDO:0005941,,,retroperitoneal cancer,DOID:5875,, +BMGC_DS03210,BMG_DS004416,,UMLS ID:C0153466,,,,,,,,,peritoneum cancer,DOID:1725,, +BMGC_DS03211,BMG_DS004417,,UMLS ID:C0153467,,,,,peritoneum cancer,MONDO:0002087,,,,,, +BMGC_DS03212,BMG_DS004418,,UMLS ID:C0153470,,,,,spleen cancer,MONDO:0005966,,,spleen cancer,DOID:672,, +BMGC_DS03213,BMG_DS004420,,UMLS ID:C0153476,,,,,,,,,maxillary sinus cancer,DOID:1357,, +BMGC_DS03214,BMG_DS004421,,UMLS ID:C0153477,,,,,ethmoid sinus cancer,MONDO:0001763,,,ethmoid sinus cancer,DOID:1363,, +BMGC_DS03215,BMG_DS004422,,UMLS ID:C0153478,,,,,frontal sinus cancer,MONDO:0001756,,,frontal sinus cancer,DOID:1360,, +BMGC_DS03216,BMG_DS004423,,UMLS ID:C0153479,,,,,sphenoidal sinus cancer,MONDO:0001994,,,sphenoidal sinus cancer,DOID:14546,, +BMGC_DS03217,BMG_DS004424,,UMLS ID:C0153483,,,,,glottis cancer,MONDO:0002351,,,glottis cancer,DOID:2595,, +BMGC_DS03218,BMG_DS004425,,UMLS ID:C0153484,,,,,supraglottis cancer,MONDO:0001724,,,supraglottis cancer,DOID:13476,, +BMGC_DS03219,BMG_DS004426,,UMLS ID:C0153485,,,,,subglottis cancer,MONDO:0001293,,,subglottis cancer,DOID:11472,, +BMGC_DS03220,BMG_DS004427,,UMLS ID:C0153486,,,,,laryngeal cartilage cancer,MONDO:0001691,,,laryngeal cartilage cancer,DOID:13348,, +BMGC_DS03221,BMG_DS004428,,UMLS ID:C0153489,,,,,tracheal cancer,MONDO:0001407,,,tracheal cancer,DOID:11920,, +BMGC_DS03222,BMG_DS004429,,UMLS ID:C0153490,,,,,main bronchus cancer,MONDO:0002811,,,main bronchus cancer,DOID:3924,, +BMGC_DS03223,BMG_DS004430,,UMLS ID:C0153491,,,,,,,,,lung cancer,DOID:1324,, +BMGC_DS03224,BMG_DS004431,,UMLS ID:C0153492,,,,,,,,,lung cancer,DOID:1324,, +BMGC_DS03225,BMG_DS004432,,UMLS ID:C0153493,,,,,,,,,lung cancer,DOID:1324,, +BMGC_DS03226,BMG_DS004433,,UMLS ID:C0153494,,,,,pleural cancer,MONDO:0006294,,,pleural cancer,DOID:5158,, +BMGC_DS03227,BMG_DS004434,,UMLS ID:C0153495,,,,,malignant parietal pleura tumor,MONDO:0001861,,,malignant parietal pleura tumor,DOID:14032,, +BMGC_DS03228,BMG_DS004435,,UMLS ID:C0153496,,,,,malignant visceral pleura tumor,MONDO:0001862,,,malignant visceral pleura tumor,DOID:14033,, +BMGC_DS03229,BMG_DS004436,,UMLS ID:C0153500,,,,,heart cancer,MONDO:0001340,,,heart cancer,DOID:117,, +BMGC_DS03230,BMG_DS004437,,UMLS ID:C0153502,,,,,posterior mediastinum cancer,MONDO:0002972,,,posterior mediastinum cancer,DOID:436,, +BMGC_DS03231,BMG_DS004438,,UMLS ID:C0153504,,,,,mediastinal cancer,MONDO:0005843,,,mediastinal cancer,DOID:5559,, +BMGC_DS03232,BMG_DS004439,,UMLS ID:C0153511,,,,,mandibular cancer,MONDO:0005837,,,mandibular cancer,DOID:2338,, +BMGC_DS03233,BMG_DS004440,,UMLS ID:C0153517,,,,,,,,,long bones of lower limb cancer,DOID:10149,, +BMGC_DS03234,BMG_DS004441,,UMLS ID:C0153518,,,,,cancer of short bone of lower limb,MONDO:0000953,,,malignant neoplasm of short bones of lower limb,DOID:10151,, +BMGC_DS03235,BMG_DS004442,,UMLS ID:C0153519,,,,,,,,,sarcoma,DOID:1115,, +BMGC_DS03236,BMG_DS004449,,UMLS ID:C0153560,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS03237,BMG_DS004450,,UMLS ID:C0153561,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS03238,BMG_DS004451,,UMLS ID:C0153562,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS03239,BMG_DS004452,,UMLS ID:C0153563,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS03240,BMG_DS004453,,UMLS ID:C0153564,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS03241,BMG_DS004454,,UMLS ID:C0153565,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS03242,BMG_DS004455,,UMLS ID:C0153567,,,,,uterine cancer,MONDO:0002715,,,uterine cancer,DOID:363,, +BMGC_DS03243,BMG_DS004457,,UMLS ID:C0153572,,,,,placenta cancer,MONDO:0002178,,,placenta cancer,DOID:2021,, +BMGC_DS03244,BMG_DS004458,,UMLS ID:C0153574,,,,,,,,,uterine corpus cancer,DOID:9460,, +BMGC_DS03245,BMG_DS004459,,UMLS ID:C0153575,,,,,cancer of isthmus of fallopian tube,MONDO:0004792,,,isthmus cancer,DOID:9459,, +BMGC_DS03246,BMG_DS004460,,UMLS ID:C0153577,,,,,,,,,uterine adnexa cancer,DOID:11747,, +BMGC_DS03247,BMG_DS004461,,UMLS ID:C0153579,,,,,fallopian tube cancer,MONDO:0002158,,,fallopian tube cancer,DOID:1964,, +BMGC_DS03248,BMG_DS004462,,UMLS ID:C0153581,,,,,parametrium malignant neoplasm,MONDO:0001350,,,parametrium malignant neoplasm,DOID:11746,, +BMGC_DS03249,BMG_DS004463,,UMLS ID:C0153584,,,,,uterine adnexa cancer,MONDO:0001351,,,uterine adnexa cancer,DOID:11747,, +BMGC_DS03250,BMG_DS004464,,UMLS ID:C0153585,,,,,,,,,female reproductive organ cancer,DOID:120,, +BMGC_DS03251,BMG_DS004465,,UMLS ID:C0153589,,,,,clitoris cancer,MONDO:0002290,,,clitoris cancer,DOID:2401,, +BMGC_DS03252,BMG_DS004466,,UMLS ID:C0153594,,,,,testicular cancer,MONDO:0005447,,,testicular cancer,DOID:2998,, +BMGC_DS03253,BMG_DS004467,,UMLS ID:C0153595,,,,,malignant tumor of undescended testis,MONDO:0001480,,,malignant tumor of undescended testis,DOID:12276,, +BMGC_DS03254,BMG_DS004468,,UMLS ID:C0153598,,,,,prepuce cancer,MONDO:0001653,,,prepuce cancer,DOID:13168,, +BMGC_DS03255,BMG_DS004469,,UMLS ID:C0153599,,,,,glans penis cancer,MONDO:0001388,,,glans penis cancer,DOID:11839,, +BMGC_DS03256,BMG_DS004470,,UMLS ID:C0153600,,,,,,,,,penile cancer,DOID:11615,, +BMGC_DS03257,BMG_DS004471,,UMLS ID:C0153601,,,,,penile cancer,MONDO:0001325,,,penile cancer,DOID:11615,, +BMGC_DS03258,BMG_DS004472,,UMLS ID:C0153602,,,,,epididymis cancer,MONDO:0001016,,,epididymis cancer,DOID:10366,, +BMGC_DS03259,BMG_DS004473,,UMLS ID:C0153603,,,,,spermatic cord cancer,MONDO:0001654,,,spermatic cord cancer,DOID:13169,, +BMGC_DS03260,BMG_DS004474,,UMLS ID:C0153604,,,,,scrotum cancer,MONDO:0021112,,,scrotum neoplasm,DOID:518,, +BMGC_DS03261,BMG_DS004475,,UMLS ID:C0153606,,,,,male reproductive organ cancer,MONDO:0005836,,,male reproductive organ cancer,DOID:3856,, +BMGC_DS03262,BMG_DS004476,,UMLS ID:C0153611,,,,,urinary bladder anterior wall cancer,MONDO:0001376,,,urinary bladder anterior wall cancer,DOID:11814,, +BMGC_DS03263,BMG_DS004477,,UMLS ID:C0153612,,,,,urinary bladder posterior wall cancer,MONDO:0001373,,,urinary bladder posterior wall cancer,DOID:11811,, +BMGC_DS03264,BMG_DS004478,,UMLS ID:C0153613,,,,,bladder neck cancer,MONDO:0001372,,,bladder neck cancer,DOID:11809,, +BMGC_DS03265,BMG_DS004479,,UMLS ID:C0153614,,,,,ureteric orifice cancer,MONDO:0001379,,,ureteric orifice cancer,DOID:11818,, +BMGC_DS03266,BMG_DS004480,,UMLS ID:C0153615,,,,,urachus cancer,MONDO:0001378,,,urachus cancer,DOID:11817,, +BMGC_DS03267,BMG_DS004481,,UMLS ID:C0153618,,,,,malignant renal pelvis neoplasm,MONDO:0044919,,,renal pelvis carcinoma,DOID:4919,, +BMGC_DS03268,BMG_DS004482,,UMLS ID:C0153619,,,,,ureter cancer,MONDO:0008627,,,ureter cancer,DOID:11819,,OMIM ID:191600 +BMGC_DS03269,BMG_DS004483,,UMLS ID:C0153620,,,,,urethra cancer,MONDO:0004192,,,urethra cancer,DOID:734,, +BMGC_DS03270,BMG_DS004484,,UMLS ID:C0153621,,,,,paraurethral gland cancer,MONDO:0001869,,,paraurethral gland cancer,DOID:14059,, +BMGC_DS03271,BMG_DS004485,,UMLS ID:C0153626,,,,,orbital cancer,MONDO:0002889,,,orbital cancer,DOID:4143,, +BMGC_DS03272,BMG_DS004486,,UMLS ID:C0153627,,,,,lacrimal gland cancer,MONDO:0002464,,,lacrimal gland cancer,DOID:294,, +BMGC_DS03273,BMG_DS004487,,UMLS ID:C0153628,,,,,conjunctival cancer,MONDO:0003454,,,conjunctival cancer,DOID:5467,, +BMGC_DS03274,BMG_DS004488,,UMLS ID:C0153629,,,,,cornea cancer,MONDO:0003802,,,cornea cancer,DOID:6199,, +BMGC_DS03275,BMG_DS004489,,UMLS ID:C0153630,,,,,choroid cancer,MONDO:0006700,,,choroid cancer,DOID:12759,, +BMGC_DS03276,BMG_DS004490,,UMLS ID:C0153631,,,,,lacrimal duct cancer,MONDO:0001580,,,lacrimal duct cancer,DOID:12756,, +BMGC_DS03277,BMG_DS004491,,UMLS ID:C0153632,,,,,,,,,ocular cancer,DOID:2174,, +BMGC_DS03278,BMG_DS004492,,UMLS ID:C0153633,,,,,brain cancer,MONDO:0001657,,,brain cancer,DOID:1319,, +BMGC_DS03279,BMG_DS004493,,UMLS ID:C0153635,,,,,,,,,frontal lobe neoplasm,DOID:12016,, +BMGC_DS03280,BMG_DS004494,,UMLS ID:C0153636,,,,,temporal lobe cancer,MONDO:0002218,,,temporal lobe neoplasm,DOID:2135,, +BMGC_DS03281,BMG_DS004495,,UMLS ID:C0153637,,,,,parietal lobe cancer,MONDO:0001952,,,parietal lobe neoplasm,DOID:14384,, +BMGC_DS03282,BMG_DS004496,,UMLS ID:C0153638,,,,,,,,,occipital lobe neoplasm,DOID:910,, +BMGC_DS03283,BMG_DS004497,,UMLS ID:C0153640,,,,,cancer of cerebellum,MONDO:0021317,,,cerebellum cancer,DOID:4205,, +BMGC_DS03284,BMG_DS004498,,UMLS ID:C0153641,,,,,brainstem cancer,MONDO:0002912,,,brain stem cancer,DOID:4203,, +BMGC_DS03285,BMG_DS004499,,UMLS ID:C0153642,,,,,,,,,cerebrum cancer,DOID:368,, +BMGC_DS03286,BMG_DS004500,,UMLS ID:C0153643,,,,,,,,,nervous system cancer,DOID:3093,, +BMGC_DS03287,BMG_DS004501,,UMLS ID:C0153644,,,,,malignant cranial nerve neoplasm,MONDO:0002433,,,cranial nerve malignant neoplasm,DOID:2815,, +BMGC_DS03288,BMG_DS004502,,UMLS ID:C0153646,,,,,spinal cord cancer,MONDO:0003544,,,spinal cancer,DOID:5612,, +BMGC_DS03289,BMG_DS004503,,UMLS ID:C0153647,,,,,spinal meninges cancer,MONDO:0004151,,,spinal meninges cancer,DOID:7224,, +BMGC_DS03290,BMG_DS004504,,UMLS ID:C0153653,,,,,malignant tumor of parathyroid gland,MONDO:0021311,,,parathyroid carcinoma,DOID:1540,, +BMGC_DS03291,BMG_DS004505,,UMLS ID:C0153655,,,,,pineal gland cancer,MONDO:0003249,,,pineal gland cancer,DOID:5032,, +BMGC_DS03292,BMG_DS004506,,UMLS ID:C0153656,,,,,malignant carotid body paraganglioma,MONDO:0004650,,,carotid body cancer,DOID:8731,, +BMGC_DS03293,BMG_DS004507,,UMLS ID:C0153658,,,,,malignant endocrine neoplasm,MONDO:0021069,,,endocrine gland cancer,DOID:170,, +BMGC_DS03294,BMG_DS004508,,UMLS ID:C0153661,,,,,thoracic cancer,MONDO:0003274,,,thoracic cancer,DOID:5093,, +BMGC_DS03295,BMG_DS004510,,UMLS ID:C0153831,,,,,intrapelvic lymph node leukemic reticuloendotheliosis,MONDO:0001607,,,intrapelvic lymph node leukemic reticuloendotheliosis,DOID:12972,, +BMGC_DS03296,BMG_DS004511,,UMLS ID:C0153832,,,,,,,,,splenic manifestation of hairy cell leukemia,DOID:709,, +BMGC_DS03297,BMG_DS004512,,UMLS ID:C0153844,,,,,intra-abdominal lymph node mast cell malignancy,MONDO:0001614,,,intra-abdominal lymph node mast cell malignancy,DOID:13005,, +BMGC_DS03298,BMG_DS004513,,UMLS ID:C0153903,,,,,,,,,monocytic leukemia,DOID:8527,, +BMGC_DS03299,BMG_DS004514,,UMLS ID:C0153924,,,,,subacute leukemia,MONDO:0002582,,,subacute leukemia,DOID:3264,, +BMGC_DS03300,BMG_DS004530,,UMLS ID:C0153968,,,,,lipoma of face,MONDO:0021630,,,skin lipoma,DOID:10188,, +BMGC_DS03301,BMG_DS004531,,UMLS ID:C0153972,,,,,lipoma of spermatic cord,MONDO:0000975,,,lipoma of spermatic cord,DOID:10206,, +BMGC_DS03302,BMG_DS004532,,UMLS ID:C0153993,,,,,submucous uterine fibroid,MONDO:0001664,,,submucous uterine fibroid,DOID:13222,, +BMGC_DS03303,BMG_DS004533,,UMLS ID:C0153994,,,,,uterus interstitial leiomyoma,MONDO:0001843,,,uterus interstitial leiomyoma,DOID:13955,, +BMGC_DS03304,BMG_DS004534,,UMLS ID:C0153995,,,,,subserous uterine fibroid,MONDO:0001745,,,subserous uterine fibroid,DOID:13560,, +BMGC_DS03305,BMG_DS004535,,UMLS ID:C0153996,,,,,,,,,cervical polyp,DOID:0060325,, +BMGC_DS03306,BMG_DS004558,,UMLS ID:C0154050,,,,,intracranial hemangioma,MONDO:0002328,,,intracranial structure hemangioma,DOID:2517,, +BMGC_DS03307,BMG_DS004560,,UMLS ID:C0154052,,,,,intra-abdominal hemangioma,MONDO:0002337,,,hemangioma of intra-abdominal structure,DOID:254,, +BMGC_DS03308,BMG_DS004563,,UMLS ID:C0154059,,,,,esophagus carcinoma in situ,MONDO:0004708,,,esophagus carcinoma in situ,DOID:9095,, +BMGC_DS03309,BMG_DS004564,,UMLS ID:C0154060,,,,,stomach carcinoma in situ,MONDO:0004716,,,stomach carcinoma in situ,DOID:9138,, +BMGC_DS03310,BMG_DS004565,,UMLS ID:C0154061,,,,,colon carcinoma in situ,MONDO:0004663,,,colon carcinoma in situ,DOID:8826,, +BMGC_DS03311,BMG_DS004566,,UMLS ID:C0154062,,,,,rectum carcinoma in situ,MONDO:0004725,,,rectum carcinoma in situ,DOID:9174,, +BMGC_DS03312,BMG_DS004567,,UMLS ID:C0154064,,,,,,,,,anal carcinoma in situ,DOID:9087,, +BMGC_DS03313,BMG_DS004568,,UMLS ID:C0154065,,,,,,,,,intestine carcinoma in situ,DOID:9024,, +BMGC_DS03314,BMG_DS004569,,UMLS ID:C0154069,,,,,larynx carcinoma in situ,MONDO:0004696,,,larynx carcinoma in situ,DOID:9011,, +BMGC_DS03315,BMG_DS004570,,UMLS ID:C0154070,,,,,trachea carcinoma in situ,MONDO:0004661,,,trachea carcinoma in situ,DOID:8802,, +BMGC_DS03316,BMG_DS004571,,UMLS ID:C0154071,,,,,,,,,lung carcinoma in situ,DOID:8800,, +BMGC_DS03317,BMG_DS004572,,UMLS ID:C0154073,,,,,skin carcinoma in situ,MONDO:0004641,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03318,BMG_DS004573,,UMLS ID:C0154074,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03319,BMG_DS004574,,UMLS ID:C0154077,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03320,BMG_DS004575,,UMLS ID:C0154078,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03321,BMG_DS004576,,UMLS ID:C0154079,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03322,BMG_DS004577,,UMLS ID:C0154080,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03323,BMG_DS004578,,UMLS ID:C0154081,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS03324,BMG_DS004579,,UMLS ID:C0154084,,,,,breast carcinoma in situ,MONDO:0004658,,,breast carcinoma in situ,DOID:8791,, +BMGC_DS03325,BMG_DS004580,,UMLS ID:C0154086,,,,,,,,,uterus carcinoma in situ,DOID:9108,, +BMGC_DS03326,BMG_DS004581,,UMLS ID:C0154088,,,,,,,,,prostate carcinoma in situ,DOID:8634,, +BMGC_DS03327,BMG_DS004582,,UMLS ID:C0154089,,,,,penis carcinoma in situ,MONDO:0004671,,,penis carcinoma in situ,DOID:8872,, +BMGC_DS03328,BMG_DS004583,,UMLS ID:C0154091,,,,,bladder carcinoma in situ,MONDO:0004703,,,bladder carcinoma in situ,DOID:9053,, +BMGC_DS03329,BMG_DS004584,,UMLS ID:C0154092,,,,,,,,,kidney carcinoma in situ,DOID:9234,, +BMGC_DS03330,BMG_DS004585,,UMLS ID:C0154094,,,,,eye carcinoma in situ,MONDO:0004659,,,eye carcinoma in situ,DOID:8792,, +BMGC_DS03331,BMG_DS004586,,UMLS ID:C0154138,,,,,,,,,toxic diffuse goiter,DOID:10719,, +BMGC_DS03332,BMG_DS004591,Postoperative hypothyroidism,UMLS ID:C0154157,Postoperative hypothyroidism (disorder) | Postoperative hypothyroidism | Postsurgical hypothyroidism | Hypothyroidism after surgery,SNOMEDCT ID:27059002,,,postsurgical hypothyroidism,MONDO:0002002,,,postsurgical hypothyroidism,DOID:1458,, +BMGC_DS03333,BMG_DS004593,Iodine hypothyroidism,UMLS ID:C0154159,Iodine hypothyroidism | Iodine hypothyroidism (disorder),SNOMEDCT ID:190279008,,,iodine hypothyroidism,MONDO:0003271,,,iodine hypothyroidism,DOID:5083,, +BMGC_DS03334,BMG_DS004595,Riedel's thyroiditis,UMLS ID:C0154162,Riedel's thyroiditis | Woody thyroiditis | Struma fibrosa thyroid | Ligneous thyroiditis | Invasive fibrous thyroiditis | Riedel's thyroiditis (disorder) | Riedel thyroiditis | Thyroiditis: [chronic fibrous] or [Riedel's] | Riedel's thyroiditis | Chronic fibrous thyroiditis | Thyroiditis: [chronic fibrous] or [Riedel's] (disorder),SNOMEDCT ID:89024000 | SNOMEDCT ID:190298005,,,IgG4-related thyroid disease,MONDO:0018992,,,Riedel's fibrosing thyroiditis,DOID:14351,, +BMGC_DS03335,BMG_DS004599,Other disorders of pancreatic internal secretion,UMLS ID:C0154189,Other disorders of pancreatic internal secretion | Other disorders of pancreatic internal secretion (disorder),SNOMEDCT ID:190427005,,,,,,,endocrine pancreas disease,DOID:1428,ICD10 ID:E16, +BMGC_DS03336,BMG_DS004600,Post-surgical hypoinsulinemia,UMLS ID:C0154190,Post-surgical hypoinsulinemia | Post-surgical hypoinsulinaemia | Post-surgical hypoinsulinemia (disorder) | Postsurgical hypoinsulinaemia | Postsurgical hypoinsulinemia | Postoperative hypoinsulinaemia | Postoperative hypoinsulinemia,SNOMEDCT ID:190437000,,,post-surgical hypoinsulinemia,MONDO:0002239,,,post-surgical hypoinsulinemia,DOID:2181,, +BMGC_DS03337,BMG_DS004601,Abnormality of secretion of glucagon,UMLS ID:C0154191,Abnormality of secretion of glucagon | Abnormality of secretion of glucagon (disorder) | Abnormality of glucagon secretion,SNOMEDCT ID:11178005,,,abnormality of glucagon secretion,MONDO:0001962,,,abnormality of glucagon secretion,DOID:14427,, +BMGC_DS03338,BMG_DS004605,Disease of thymus gland,UMLS ID:C0154199,Disorder of thymus | Disorder of thymus gland | Thymus disorder | Disorder of thymus gland (disorder),SNOMEDCT ID:20673009,,,thymus gland disorder,MONDO:0003393,,,thymus gland disease,DOID:533,, +BMGC_DS03339,BMG_DS004608,Medulloadrenal hyperfunction,UMLS ID:C0154206,Medulloadrenal hyperfunction | Medulloadrenal hyperfunction (disorder),SNOMEDCT ID:111565003,,,medulloadrenal hyperfunction,MONDO:0001473,,,medulloadrenal hyperfunction,DOID:12257,, +BMGC_DS03340,BMG_DS004611,Hyperestrogenism,UMLS ID:C0154209,Hyperoestrogenism | Oestrogen excess | Estrogen excess | Hyperestrogenism | Estrogen excess (disorder) | Hyperestrogenism | Hyperoestrogenism | Hyperestrogenism (disorder) | Oestrogen excess | Estrogen excess,SNOMEDCT ID:190533004 | SNOMEDCT ID:37295009,,,,,,,estrogen excess,DOID:14336,, +BMGC_DS03341,BMG_DS004619,Polyglandular dysfunction,UMLS ID:C0154222,Polyglandular dysfunction | Polyglandular dysfunction (disorder),SNOMEDCT ID:111546006,,,,,,,,,ICD10 ID:E31, +BMGC_DS03342,BMG_DS004632,"Urea Cycle Disorders, Inborn",UMLS ID:C0154246,,,,,urea cycle disorder,MONDO:0004739,"Urea Cycle Disorders, Inborn",MeSH ID:D056806,urea cycle disorder,DOID:9267,, +BMGC_DS03343,BMG_DS004633,Lipid Metabolism Disorders,UMLS ID:C0154251,,,,,inherited lipid metabolism disorder,MONDO:0002525,Lipid Metabolism Disorders,MeSH ID:D052439,,,, +BMGC_DS03344,BMG_DS004634,Polyclonal hypergammaglobulinemia,UMLS ID:C0154254,Polyclonal hypergammaglobulinemia | Polyclonal hypergammaglobulinaemia | Polyclonal hypergammaglobulinemia (disorder),SNOMEDCT ID:190808009,Polyclonal hypergammaglobulinaemia,ICD11 ID:4B21,polyclonal hypergammaglobulinemia,MONDO:0002272,,,polyclonal hypergammaglobulinemia,DOID:2344,ICD10 ID:D89.0, +BMGC_DS03345,BMG_DS004640,,UMLS ID:C0154276,,,,,,,,,B cell deficiency,DOID:2115,, +BMGC_DS03346,BMG_DS004646,Anemia due to protein deficiency,UMLS ID:C0154290,Anemia due to protein deficiency | Anemia related to kwashiorkor | Protein deficiency anemia | Anaemia due to protein deficiency | Anaemia related to kwashiorkor | Protein deficiency anaemia | Anemia due to protein deficiency (disorder),SNOMEDCT ID:85746008,,,protein-deficiency anemia,MONDO:0001638,,,protein-deficiency anemia,DOID:13120,, +BMGC_DS03347,BMG_DS004650,Acquired thrombocytopenia,UMLS ID:C0154301,Acquired thrombocytopenia | Acquired thrombocytopenia (disorder),SNOMEDCT ID:74576004,,,acquired thrombocytopenia,MONDO:0001198,,,acquired thrombocytopenia,DOID:11126,, +BMGC_DS03348,BMG_DS004651,Chronic lymphadenitis,UMLS ID:C0154304,Chronic lymphadenitis | Chronic lymphadenitis (disorder) | Chronic lymphadenitis | Chronic adenitis | Chronic lymphadenitis (disorder),SNOMEDCT ID:154836001 | SNOMEDCT ID:32035007,,,,,,,lymphadenitis,DOID:1602,, +BMGC_DS03349,BMG_DS004654,,UMLS ID:C0154319,,,,,,,,,dementia,DOID:1307,, +BMGC_DS03350,BMG_DS004655,,UMLS ID:C0154325,,,,,,,,,drug-induced mental disorder,DOID:1203,, +BMGC_DS03351,BMG_DS004657,,UMLS ID:C0154333,,,,,subacute delirium,MONDO:0004629,,,subacute delirium,DOID:8645,, +BMGC_DS03352,BMG_DS004658,,UMLS ID:C0154334,,,,,,,,,substance-induced psychosis,DOID:8646,, +BMGC_DS03353,BMG_DS004659,,UMLS ID:C0154409,,,,,,,,,major depressive disorder,DOID:1470,, +BMGC_DS03354,BMG_DS004660,,UMLS ID:C0154437,,,,,atypical depressive disorder,MONDO:0001485,,,atypical depressive disorder,DOID:12294,, +BMGC_DS03355,BMG_DS004661,,UMLS ID:C0154451,,,,,,,,,pervasive developmental disorder,DOID:0060040,, +BMGC_DS03356,BMG_DS004662,,UMLS ID:C0154466,,,,,psychologic dyspareunia,MONDO:0001196,,,psychologic dyspareunia,DOID:11120,, +BMGC_DS03357,BMG_DS004663,,UMLS ID:C0154482,,,,,,,,,barbiturate dependence,DOID:2575,, +BMGC_DS03358,BMG_DS004664,,UMLS ID:C0154529,,,,,,,,,barbiturate abuse,DOID:8519,, +BMGC_DS03359,BMG_DS004665,,UMLS ID:C0154536,,,,,,,,,amphetamine abuse,DOID:670,, +BMGC_DS03360,BMG_DS004666,,UMLS ID:C0154540,,,,,,,,,antidepressant type abuse,DOID:11718,, +BMGC_DS03361,BMG_DS004669,,UMLS ID:C0154564,,,,,,,,,sleep disorder,DOID:535,, +BMGC_DS03362,BMG_DS004670,,UMLS ID:C0154575,,,,,rumination disorder,MONDO:0001301,,,rumination disorder,DOID:11507,, +BMGC_DS03363,BMG_DS004671,,UMLS ID:C0154631,,,,,,,,,reading disorder,DOID:13365,, +BMGC_DS03364,BMG_DS004672,Streptococcal meningitis,UMLS ID:C0154639,Streptococcal meningitis | Streptococcal meningitis (disorder),SNOMEDCT ID:4510004,Meningitis due to Streptococcus,ICD11 ID:1B53,streptococcal meningitis,MONDO:0001316,,,streptococcal meningitis,DOID:11574,ICD10 ID:G00.2, +BMGC_DS03365,BMG_DS004673,Staphylococcal meningitis,UMLS ID:C0154640,Staphylococcal meningitis | Staphylococcal meningitis (disorder),SNOMEDCT ID:12166008,Meningitis due to Staphylococcus,ICD11 ID:1B54,,,,,,,ICD10 ID:G00.3, +BMGC_DS03366,BMG_DS004675,Sarcoid meningitis,UMLS ID:C0154648,Meningitis due to sarcoidosis | Meningeal sarcoidosis | Sarcoid meningitis | Sarcoid meningitis (disorder),SNOMEDCT ID:192673008,,,,,,,sarcoid meningitis,DOID:12055,ICD10 ID:D86.81, +BMGC_DS03367,BMG_DS004677,Eosinophilic meningitis,UMLS ID:C0154652,Eosinophilic meningitis | Eosinophilic meningitis (disorder),SNOMEDCT ID:25671008,,,eosinophilic meningitis,MONDO:0001015,,,eosinophilic meningitis,DOID:10361,, +BMGC_DS03368,BMG_DS004678,Chronic meningitis,UMLS ID:C0154653,Chronic meningitis | Chronic meningitis (disorder),SNOMEDCT ID:21664006,"Disorders of the meninges excluding infection, unspecified",ICD11 ID:8E40.Z,chronic meningitis,MONDO:0001007,,,chronic meningitis,DOID:10341,ICD10 ID:G03.1, +BMGC_DS03369,BMG_DS004683,Senile degeneration of brain,UMLS ID:C0154669,Hydrocephalus | Senile brain degen. | Senile degeneration of brain | Child cerebral degeneration | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | Senile degeneration of brain | Senile degeneration of brain (disorder) | Child cerebral degeneration | Senile brain degen. | Hydrocephalus | Senile degeneration of brain | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) | (Child cerebral degeneration) or (hydrocephalus) or (senile brain degeneration) (disorder) | Senile degeneration of brain | Senile degeneration of brain (disorder) | Age-related degeneration of brain,SNOMEDCT ID:267687006 | SNOMEDCT ID:192804001 | SNOMEDCT ID:154996004 | SNOMEDCT ID:154995000 | SNOMEDCT ID:45864009,,,senile degeneration of brain,MONDO:0001987,,,senile degeneration of brain,DOID:14524,, +BMGC_DS03370,BMG_DS004684,Degenerative brain disorder,UMLS ID:C0154671,Degenerative brain disorder | Degenerative brain disorder (disorder),SNOMEDCT ID:52522001,,,cerebral degeneration,MONDO:0024238,,,cerebral degeneration,DOID:1443,, +BMGC_DS03371,BMG_DS004685,Symptomatic torsion dystonia,UMLS ID:C0154674,Symptomatic torsion dystonia | Symptomatic torsion dystonia (disorder) | (Symptomatic torsion dystonia) or (athetoid cerebral palsy) or (congenital athetosis) or (Vogt's disease) | Vogt's disease | Athetoid cerebral palsy | Symptomatic torsion dystonia | Athetosis - congenital | (Symptomatic torsion dystonia) or (athetoid cerebral palsy) or (congenital athetosis) or (Vogt's disease) (disorder),SNOMEDCT ID:55776008 | SNOMEDCT ID:267584007 | SNOMEDCT ID:192853001,,,,,,,generalized dystonia,DOID:0050835,, +BMGC_DS03372,BMG_DS004686,Fragments of torsion dystonia,UMLS ID:C0154675,Fragments of torsion dystonia | Fragments of torsion dystonia (disorder),SNOMEDCT ID:192859002,,,,,,,generalized dystonia,DOID:0050835,, +BMGC_DS03373,BMG_DS004688,Anterior Horn Cell Disease,UMLS ID:C0154681,,,,,anterior horn disorder,MONDO:0003182,Motor Neuron Disease,MeSH ID:D016472,anterior horn cell disease,DOID:4873,, +BMGC_DS03374,BMG_DS004689,Lateral Sclerosis,UMLS ID:C0154682,,,,,lateral sclerosis,MONDO:0018155,Motor Neuron Disease,MeSH ID:D016472,lateral sclerosis,DOID:230,, +BMGC_DS03375,BMG_DS004690,Vascular myelopathy,UMLS ID:C0154685,Vascular myelopathy | Vascular myelopathy (disorder),SNOMEDCT ID:29774004,,,vascular myelopathy,MONDO:0002552,,,vascular myelopathy,DOID:320,, +BMGC_DS03376,BMG_DS004693,Idiopathic peripheral autonomic neuropathy,UMLS ID:C0154690,Idiopathic peripheral autonomic neuropathy | Idiopathic peripheral autonomic neuropathy (disorder),SNOMEDCT ID:192914009 | SNOMEDCT ID:86489003,Other specified autonomic neuropathies,ICD11 ID:8D88.Y,idiopathic peripheral autonomic neuropathy,MONDO:0001295,,,idiopathic peripheral autonomic neuropathy,DOID:11488,ICD10 ID:G90.0, +BMGC_DS03377,BMG_DS004694,,UMLS ID:C0154691,,,,,,,,,autonomic nervous system disease,DOID:11465,, +BMGC_DS03378,BMG_DS004696,"Hemiplegia, Flaccid",UMLS ID:C0154693,,,,,,,Hemiplegia,MeSH ID:D006429,,,, +BMGC_DS03379,BMG_DS004697,"Hemiplegia, Spastic",UMLS ID:C0154694,,,,,spastic hemiplegia,MONDO:0001168,Hemiplegia,MeSH ID:D006429,,,, +BMGC_DS03380,BMG_DS004698,Diplegic Infantile Cerebral Palsy,UMLS ID:C0154695,,,,,,,Cerebral Palsy,MeSH ID:D002547,spastic diplegia,DOID:10965,, +BMGC_DS03381,BMG_DS004699,"Cerebral Palsy, Quadriplegic, Infantile",UMLS ID:C0154697,,,,,,,Cerebral Palsy,MeSH ID:D002547,spastic quadriplegic cerebral palsy,DOID:10970,, +BMGC_DS03382,BMG_DS004700,Monoplegic Infantile Cerebral Palsy,UMLS ID:C0154698,,,,,spastic monoplegia,MONDO:0001169,Cerebral Palsy,MeSH ID:D002547,spastic monoplegia,DOID:10968,, +BMGC_DS03383,BMG_DS004702,Diplegia of upper limbs,UMLS ID:C0154701,Diplegia of upper limbs | Diplegia of upper limbs (disorder) | Diplegia of upper limbs | Paralysis of both upper limbs | Upper diplegia | Diplegia of upper limbs (disorder),SNOMEDCT ID:192968004 | SNOMEDCT ID:54099005,"Diplegia of upper extremities, unspecified",ICD11 ID:MB51.Z,diplegia of upper limb,MONDO:0004618,,,diplegia of upper limb,DOID:862,ICD10 ID:G83.0, +BMGC_DS03384,BMG_DS004706,,UMLS ID:C0154712,,,,,,,,,simple partial epilepsy,DOID:5129,, +BMGC_DS03385,BMG_DS004707,Migraine with Aura,UMLS ID:C0154723,,,,,migraine with aura,MONDO:0005475,Migraine with Aura,MeSH ID:D020325,migraine with aura,DOID:10024,, +BMGC_DS03386,BMG_DS004711,Disorders of other cranial nerves,UMLS ID:C0154730,,,,,,,,,glossopharyngeal nerve disease,DOID:3418,ICD10 ID:G52, +BMGC_DS03387,BMG_DS004712,Glossopharyngeal Neuralgia,UMLS ID:C0154731,,,,,glossopharyngeal neuralgia,MONDO:0016372,Glossopharyngeal Nerve Diseases,MeSH ID:D020435,glossopharyngeal neuralgia,DOID:14423,, +BMGC_DS03388,BMG_DS004713,Multiple cranial nerve palsy,UMLS ID:C0154733,Multiple cranial nerve palsy | Multiple cranial nerve palsy (disorder),SNOMEDCT ID:78152008,,,multiple cranial nerve palsy,MONDO:0001819,,,multiple cranial nerve palsy,DOID:13866,, +BMGC_DS03389,BMG_DS004714,Lumbosacral plexus lesion,UMLS ID:C0154735,Lumbosacral plexus lesion | Lumbosacral plexus lesion (disorder),SNOMEDCT ID:4062006,,,lumbosacral plexus lesion,MONDO:0001829,,,lumbosacral plexus lesion,DOID:13913,, +BMGC_DS03390,BMG_DS004718,Mononeuritis of upper limb and mononeuritis multiplex,UMLS ID:C0154741,Mononeuritis of upper limb and mononeuritis multiplex | Mononeuritis of upper limb and mononeuritis multiplex (disorder),SNOMEDCT ID:155072002 | SNOMEDCT ID:193125009,,,neuritis of upper limb,MONDO:0003607,,,mononeuritis of upper limb and mononeuritis multiplex,DOID:572,, +BMGC_DS03391,BMG_DS004719,,UMLS ID:C0154742,,,,,,,,,median neuropathy,DOID:571,, +BMGC_DS03392,BMG_DS004720,Ulnar Neuropathies,UMLS ID:C0154743,,,,,ulnar neuropathy,MONDO:0007006,Ulnar Neuropathies,MeSH ID:D020424,ulnar neuropathy,DOID:4613,, +BMGC_DS03393,BMG_DS004721,Lesion of radial nerve,UMLS ID:C0154744,Lesion of radial nerve (disorder) | Lesion of radial nerve | Radial nerve lesion | Radial neuropathy | Radial neuropathy (disorder),SNOMEDCT ID:193137006 | SNOMEDCT ID:16644004,Lesion of radial nerve,ICD11 ID:8C10.2,radial nerve lesion,MONDO:0006940,,,radial nerve lesion,DOID:12170,ICD10 ID:G56.3, +BMGC_DS03394,BMG_DS004722,,UMLS ID:C0154746,,,,,,,,,mononeuritis of upper limb,DOID:1844,, +BMGC_DS03395,BMG_DS004723,Mononeuritis of lower limb,UMLS ID:C0154747,Mononeuritis of lower limb | Mononeuritis of lower limb (disorder),SNOMEDCT ID:62235007,,,mononeuritis of lower limb,MONDO:0004797,,,mononeuritis of lower limb,DOID:9473,, +BMGC_DS03396,BMG_DS004724,Lesion of Sciatic Nerve,UMLS ID:C0154748,,,,,lesion of sciatic nerve,MONDO:0001543,Sciatic Neuropathy,MeSH ID:D020426,lesion of sciatic nerve,DOID:12528,, +BMGC_DS03397,BMG_DS004725,Tibial nerve palsy,UMLS ID:C0154751,Tibial nerve palsy | Tibial nerve palsy (disorder) | Tibial nerve palsy | Medial popliteal neuropathy | Posterior tibial neuropathy | Tibial neuropathy | Tibial neuropathy (disorder),SNOMEDCT ID:365258000 | SNOMEDCT ID:359842002,,,tibial nerve palsy,MONDO:0001544,,,tibial nerve palsy,DOID:12529,, +BMGC_DS03398,BMG_DS004726,Plantar nerve lesion,UMLS ID:C0154752,Plantar nerve lesion | Plantar nerve lesion (disorder),SNOMEDCT ID:193148004,,,plantar nerve lesion,MONDO:0001541,,,plantar nerve lesion,DOID:12524,, +BMGC_DS03399,BMG_DS004728,Idiopathic progressive polyneuropathy,UMLS ID:C0154756,Idiopathic progressive polyneuropathy | Idiopathic progressive polyneuropathy (disorder),SNOMEDCT ID:193164007 | SNOMEDCT ID:33209009,,,idiopathic progressive polyneuropathy,MONDO:0001073,,,idiopathic progressive polyneuropathy,DOID:10593,, +BMGC_DS03400,BMG_DS004729,,UMLS ID:C0154758,,,,,,,,,inflammatory and toxic neuropathy,DOID:2537,, +BMGC_DS03401,BMG_DS004730,Polyneuropathy in collagen vascular disease,UMLS ID:C0154759,Polyneuropathy in collagen vascular disease | Neuropathy in vasculitis and connective tissue disease | Polyneuropathy in collagen vascular disease (disorder),SNOMEDCT ID:193177003,,,polyneuropathy in collagen vascular disease,MONDO:0001765,,,polyneuropathy in collagen vascular disease,DOID:13649,, +BMGC_DS03402,BMG_DS004731,Polyneuropathy caused by drug,UMLS ID:C0154762,Drug-related polyneuropathy | Polyneuropathy caused by drug (disorder) | Polyneuropathy caused by drug,SNOMEDCT ID:7339009,,,polyneuropathy due to drug,MONDO:0001904,,,polyneuropathy due to drug,DOID:14184,, +BMGC_DS03403,BMG_DS004735,Acute endophthalmitis,UMLS ID:C0154773,Acute endophthalmitis | Acute endophthalmitis (disorder),SNOMEDCT ID:193268004 | SNOMEDCT ID:1493002,,,acute endophthalmitis,MONDO:0017202,,,acute endophthalmitis,DOID:11752,, +BMGC_DS03404,BMG_DS004736,Chronic endophthalmitis,UMLS ID:C0154774,Chronic endophthalmitis | Chronic endophthalmitis (disorder),SNOMEDCT ID:13978000 | SNOMEDCT ID:193269007,,,chronic endophthalmitis,MONDO:0017203,,,chronic endophthalmitis,DOID:10697,, +BMGC_DS03405,BMG_DS004737,Ophthalmia nodosa,UMLS ID:C0154775,Ophthalmia nodosa | Caterpillar-hair ophthalmia | Caterpillar ophthalmia | Ophthalmia nodosa (disorder),SNOMEDCT ID:12371008,,,ophthalmia nodosa,MONDO:0004861,,,ophthalmia nodosa,DOID:9722,ICD10 ID:H16.24, +BMGC_DS03406,BMG_DS004738,Degenerative disorder of eye,UMLS ID:C0154777,Degenerative disorder of globe | Degenerative disorder of eye | Degenerative disorder of eye (disorder),SNOMEDCT ID:62585004,,,eye degenerative disorder,MONDO:0004884,,,eye degenerative disease,DOID:9799,, +BMGC_DS03407,BMG_DS004739,"Myopia, Degenerative",UMLS ID:C0154778,,,,,degenerative myopia,MONDO:0001383,"Myopia, Degenerative",MeSH ID:D047728,degenerative myopia,DOID:11829,, +BMGC_DS03408,BMG_DS004740,Other degenerative disorders of globe,UMLS ID:C0154780,,,,,,,,,globe disease,DOID:1242,ICD10 ID:H44.39, +BMGC_DS03409,BMG_DS004741,Primary hypotony of eye,UMLS ID:C0154782,Primary hypotony of eye | Primary hypotony of eye (disorder),SNOMEDCT ID:2251002,,,primary eye hypotony,MONDO:0001503,,,primary eye hypotony,DOID:12349,ICD10 ID:H44.44, +BMGC_DS03410,BMG_DS004742,Blind hypotensive eye,UMLS ID:C0154788,Blind hypotensive eye | Blind hypotensive eye (disorder) | Atrophy of globe | Globe of eye shrunken | Atrophia bulbi | Shrunken eyeball | Phthysis bulbi | Eyeball atrophic | Phthisis bulbi | Phthysical eye | Globe of eye shrunken (disorder) | Phthisical eye,SNOMEDCT ID:23360000 | SNOMEDCT ID:193291000 | SNOMEDCT ID:4229009,,,blind hypotensive eye,MONDO:0001360,,,blind hypotensive eye,DOID:11766,, +BMGC_DS03411,BMG_DS004743,Blind hypertensive eye,UMLS ID:C0154789,(Blind hypertensive eye) or (glaucoma absolute) | Blind hypertensive eye | Glaucoma - absolute | Absolute glaucoma | (Blind hypertensive eye) or (glaucoma absolute) (disorder) | Blind hypertensive eye | Blind hypertensive eye (disorder),SNOMEDCT ID:193286001 | SNOMEDCT ID:264008,,,blind hypertensive eye,MONDO:0001363,,,absolute glaucoma,DOID:11776,, +BMGC_DS03412,BMG_DS004745,Luxation of eye,UMLS ID:C0154806,Luxation of globe | Luxation of eye | Luxation of eye (disorder),SNOMEDCT ID:20842008,,,luxation of globe,MONDO:0001523,,,luxation of globe,DOID:1241,, +BMGC_DS03413,BMG_DS004748,Flat retinoschisis,UMLS ID:C0154817,Flat retinoschisis | Flat retinoschisis (disorder),SNOMEDCT ID:193332006 | SNOMEDCT ID:83405000,,,flat retinoschisis,MONDO:0004578,,,flat retinoschisis,DOID:8464,, +BMGC_DS03414,BMG_DS004756,Proliferative diabetic retinopathy,UMLS ID:C0154830,Proliferative diabetic retinopathy | Proliferative retinopathy with diabetes mellitus | PDR - proliferative diabetic retinopathy | Proliferative retinopathy due to diabetes mellitus (disorder) | Proliferative retinopathy due to diabetes mellitus | Proliferative diabetic retinopathy | Proliferative diabetic retinopathy (disorder),SNOMEDCT ID:59276001 | SNOMEDCT ID:154679002,,,proliferative diabetic retinopathy,MONDO:0001660,,,proliferative diabetic retinopathy,DOID:13207,, +BMGC_DS03415,BMG_DS004757,Exudative retinopathy,UMLS ID:C0154832,Exudative retinopathy | Exudative retinopathy (disorder),SNOMEDCT ID:193359003 | SNOMEDCT ID:25506007,,,Coats disease,MONDO:0010269,,,Coats disease,DOID:7765,ICD10 ID:H35.02,OMIM ID:300216 | OMIM ID:MTHU009658 +BMGC_DS03416,BMG_DS004758,,UMLS ID:C0154833,,,,,retinal vascular disorder,MONDO:0002311,,,retinal vascular disease,DOID:2462,, +BMGC_DS03417,BMG_DS004759,,UMLS ID:C0154834,,,,,retinal microaneurysm,MONDO:0001257,,,retinal microaneurysm,DOID:11295,, +BMGC_DS03418,BMG_DS004760,Retinal telangiectasia,UMLS ID:C0154835,Retinal telangiectasia | Retinal telangiectasia (disorder) | Retinal grouped capillary aneurysms,SNOMEDCT ID:84884003,,,retinal telangiectasia,MONDO:0004348,,,retinal telangiectasia,DOID:7736,,OMIM ID:MTHU039199 +BMGC_DS03419,BMG_DS004763,Partial retinal artery occlusion,UMLS ID:C0154839,Partial arterial retinal occlusion | Partial retinal artery occlusion | Partial occlusion of retinal artery | Partial occlusion of retinal artery (disorder),SNOMEDCT ID:776009,,,partial arterial retinal occlusion,MONDO:0001985,,,partial arterial retinal occlusion,DOID:14522,ICD10 ID:H34.21, +BMGC_DS03420,BMG_DS004764,Transient arterial retinal occlusion,UMLS ID:C0154840,Transient arterial retinal occlusion | Transient arterial retinal occlusion (disorder),SNOMEDCT ID:87224000,,,transient retinal arterial occlusion,MONDO:0004583,,,transient retinal arterial occlusion,DOID:8482,, +BMGC_DS03421,BMG_DS004765,Central retinal vein occlusion,UMLS ID:C0154841,(Central retinal vein occlusion) or (retinal vein thrombosis) | Central retinal vein occlusion | Retinal vein thrombosis | (Central retinal vein occlusion) or (retinal vein thrombosis) (disorder) | Central retinal vein occlusion | CRVT - Central retinal vein thrombosis | CRVO - Central retinal vein occlusion | Central retinal vein thrombosis | Central retinal vein occlusion (disorder),SNOMEDCT ID:193378003 | SNOMEDCT ID:68478007,,,central retinal vein occlusion,MONDO:0002303,,,central retinal vein occlusion,DOID:2450,ICD10 ID:H34.81, +BMGC_DS03422,BMG_DS004766,,UMLS ID:C0154842,,,,,,,,,venous tributary occlusion of retina,DOID:13514,, +BMGC_DS03423,BMG_DS004768,Cystoid macular retinal degeneration,UMLS ID:C0154850,Cystoid macular retinal degeneration | Cystoid macular retinal degeneration (disorder),SNOMEDCT ID:14046000,,,cystoid macular retinal degeneration,MONDO:0001919,,,cystoid macular retinal degeneration,DOID:14245,, +BMGC_DS03424,BMG_DS004769,Paving stone retinal degeneration,UMLS ID:C0154854,Paving stone retinal degeneration | Paving stone retinal degeneration (disorder) | Cobblestone retinal degeneration | Pavingstone retinal degeneration | Paving-stone retinal degeneration | Cobblestone degeneration | Pavingstone degeneration,SNOMEDCT ID:69134001,,,cobblestone retinal degeneration,MONDO:0001456,,,cobblestone retinal degeneration,DOID:12166,, +BMGC_DS03425,BMG_DS004770,Microcystoid retinal degeneration,UMLS ID:C0154855,Iwanoff's cysts | Blessig's cysts | Peripheral cystoid retinal degeneration | Peripheral cystoid degeneration of retina of eye | Peripheral cystoid degeneration of retina of eye (disorder),SNOMEDCT ID:37075008,,,Blessig's cysts,MONDO:0001454,,,Blessig's cysts,DOID:12164,, +BMGC_DS03426,BMG_DS004771,Retinal lattice degeneration,UMLS ID:C0154856,Retinal lattice degeneration | Palisade degeneration of retina | Retinal lattice degeneration (disorder) | Lattice retinal degeneration | LD - Lattice degeneration | Lattice degeneration,SNOMEDCT ID:3577000,,,retinal lattice degeneration,MONDO:0001455,,,retinal lattice degeneration,DOID:12165,, +BMGC_DS03427,BMG_DS004772,Senile reticular retinal degeneration,UMLS ID:C0154857,Senile reticular retinal degeneration | Senile reticular retinal degeneration (disorder) | Senile reticular degeneration,SNOMEDCT ID:54184008,,,senile reticular retinal degeneration,MONDO:0001453,,,senile reticular retinal degeneration,DOID:12163,, +BMGC_DS03428,BMG_DS004773,Secondary pigmentary retinal degeneration,UMLS ID:C0154858,Secondary pigmentary retinal degeneration | Pseudoretinitis pigmentosa | Secondary pigmentary retinal degeneration (disorder),SNOMEDCT ID:35545005,,,,,,,pseudoretinitis pigmentosa,DOID:12162,, +BMGC_DS03429,BMG_DS004774,Secondary vitreoretinal degeneration,UMLS ID:C0154859,Secondary vitreoretinal degeneration | Secondary vitreoretinal degeneration (disorder),SNOMEDCT ID:193397003 | SNOMEDCT ID:60676002,,,secondary vitreoretinal degeneration,MONDO:0001457,,,secondary vitreoretinal degeneration,DOID:12167,ICD10 ID:H35.46, +BMGC_DS03430,BMG_DS004775,Hereditary retinal dystrophy,UMLS ID:C0154860,Hereditary retinal dystrophy | Hereditary retinal dystrophy (disorder),SNOMEDCT ID:41799005,Inherited retinal dystrophies,ICD11 ID:9B70,,,,,retinitis pigmentosa 47 | retinitis pigmentosa 22 | retinitis pigmentosa 43 | retinitis pigmentosa 44 | retinitis pigmentosa 50 | retinitis pigmentosa 67 | retinitis pigmentosa with or without situs inversus | Usher syndrome type 1G | Usher syndrome type 3A | Usher syndrome type 2A | retinitis pigmentosa 58 | retinitis pigmentosa 48 | retinitis pigmentosa 49 | Leber congenital amaurosis 8 | retinitis pigmentosa 69 | retinitis pigmentosa 77 | retinitis pigmentosa 39 | retinitis pigmentosa 45 | Usher syndrome type 2D | retinitis pigmentosa 23 | Usher syndrome type 1D | retinitis pigmentosa 61 | retinitis pigmentosa 40 | patterned macular dystrophy | Leber congenital amaurosis 2 | retinitis pigmentosa 63 | retinitis pigmentosa 70 | Leber congenital amaurosis 5 | retinitis pigmentosa 56 | retinitis pigmentosa 55 | retinitis pigmentosa 73 | retinitis pigmentosa 28 | Usher syndrome type 1 | Leber congenital amaurosis 9 | Leber congenital amaurosis 1 | Leber congenital amaurosis 7 | retinitis pigmentosa 59 | Leber congenital amaurosis 15 | retinitis pigmentosa 68 | retinitis pigmentosa 62 | retinitis pigmentosa Y-linked | retinitis pigmentosa 51 | Usher syndrome type 3B | retinitis pigmentosa 72 | dominant pericentral pigmentary retinopathy | Usher syndrome type 1C | Usher syndrome type 1J | Usher syndrome type 2C | late-adult onset retinitis pigmentosa | retinitis pigmentosa 38 | retinitis pigmentosa 60 | autosomal recessive pericentral pigmentary retinopathy | retinitis pigmentosa 66 | retinitis pigmentosa 71 | Leber congenital amaurosis 17 | retinitis pigmentosa 57 | Usher syndrome type 1F | Usher syndrome type 1E | retinitis pigmentosa 24 | cone-rod dystrophy | hereditary retinal dystrophy | Leber congenital amaurosis 16 | retinitis pigmentosa 75 | Usher syndrome type 1H | Usher syndrome type 1K | retinitis pigmentosa 54 | retinitis pigmentosa 74,DOID:0110838;DOID:0110362;DOID:0110385;DOID:0110217;DOID:0110400;DOID:0110367;DOID:0080350;DOID:0110189;DOID:0110215;DOID:0110360;DOID:0110078;DOID:8500;DOID:0110842;DOID:0050572;DOID:0110352;DOID:0110371;DOID:0110411;DOID:0110079;DOID:0110412;DOID:0110419;DOID:0110363;DOID:0110393;DOID:0110831;DOID:0110830;DOID:0110840;DOID:0110373;DOID:0110369;DOID:0110841;DOID:0060863;DOID:0110392;DOID:0110395;DOID:0110421;DOID:0110389;DOID:0110839;DOID:0110407;DOID:0110374;DOID:0110401;DOID:0110416;DOID:0110826;DOID:0110402;DOID:0110333;DOID:0110410;DOID:0110418;DOID:0110370;DOID:0110359;DOID:0110375;DOID:0110394;DOID:0110016;DOID:0110396;DOID:0110379;DOID:0110377;DOID:0110422;DOID:0110382;DOID:0110836;DOID:0110420;DOID:0110398;DOID:0110365;DOID:0110361;DOID:0110364;DOID:0110832;DOID:0110833;DOID:0110834;DOID:0110837;DOID:0110380;DOID:0110118;DOID:0110835;DOID:0110005,ICD10 ID:H35.5, +BMGC_DS03431,BMG_DS004776,,UMLS ID:C0154861,,,,,retinal dystrophy in systemic or cerebroretinal lipidoses,MONDO:0001925,,,retinal dystrophy in systemic or cerebroretinal lipidoses,DOID:14253,, +BMGC_DS03432,BMG_DS004777,Vitreoretinal dystrophy,UMLS ID:C0154863,Vitreoretinal dystrophy | Vitreoretinal dystrophy (disorder),SNOMEDCT ID:79556007,,,vitreoretinal dystrophy,MONDO:0001923,,,vitreoretinal dystrophy,DOID:14251,ICD10 ID:H35.51, +BMGC_DS03433,BMG_DS004779,Dystrophies primarily involving the retinal pigment epithelium,UMLS ID:C0154865,,,,,dystrophies primarily involving the retinal pigment epithelium,MONDO:0001924,,,dystrophies primarily involving the retinal pigment epithelium,DOID:14252,ICD10 ID:H35.54, +BMGC_DS03434,BMG_DS004780,,UMLS ID:C0154866,,,,,retinal dystrophies primarily involving Bruch's membrane,MONDO:0001666,,,retinal dystrophies primarily involving Bruch's membrane,DOID:13227,, +BMGC_DS03435,BMG_DS004781,Focal chorioretinitis,UMLS ID:C0154870,Focal chorioretinitis | Focal retinochoroiditis | Focal chorioretinitis (disorder),SNOMEDCT ID:15847003,Chorioretinal inflammation,ICD11 ID:9B65.2,focal chorioretinitis,MONDO:0002164,,,focal chorioretinitis,DOID:1979,ICD10 ID:H30.0, +BMGC_DS03436,BMG_DS004784,Neuroretinitis,UMLS ID:C0154874,Neuroretinitis (disorder) | Neuroretinitis | Papilloretinitis,SNOMEDCT ID:410471004,,,neuroretinitis,MONDO:0000958,Retinitis,MeSH ID:D012173,neuroretinitis,DOID:10176,, +BMGC_DS03437,BMG_DS004787,Disseminated chorioretinitis,UMLS ID:C0154879,Disseminated chorioretinitis | Disseminated retinochoroiditis | Disseminated chorioretinitis (disorder),SNOMEDCT ID:78769001,Chorioretinal inflammation,ICD11 ID:9B65.2,disseminated chorioretinitis,MONDO:0004657,,,disseminated chorioretinitis,DOID:8787,ICD10 ID:H30.1, +BMGC_DS03438,BMG_DS004793,,UMLS ID:C0154888,,,,,,,,,peripheral scars of retina,DOID:11283,, +BMGC_DS03439,BMG_DS004794,Senile atrophy of choroid,UMLS ID:C0154891,Senile atrophy of choroid | Senile atrophy of choroid (disorder),SNOMEDCT ID:38513001,,,senile atrophy of choroid,MONDO:0004879,,,Senile atrophy of choroid,DOID:9776,, +BMGC_DS03440,BMG_DS004795,Diffuse secondary choroid atrophy,UMLS ID:C0154892,Diffuse secondary choroid atrophy | Diffuse secondary choroid atrophy (disorder),SNOMEDCT ID:193463006,,,diffuse secondary choroid atrophy,MONDO:0004886,,,diffuse secondary choroid atrophy,DOID:981,, +BMGC_DS03441,BMG_DS004796,Hereditary choroidal dystrophy,UMLS ID:C0154893,Hereditary choroidal dystrophy | Hereditary choroidal atrophy | Hereditary choroidal dystrophy (disorder),SNOMEDCT ID:74469006,Choroidal dystrophy,ICD11 ID:9B61,hereditary choroidal atrophy,MONDO:0004883,,,hereditary choroidal atrophy,DOID:9794,ICD10 ID:H31.2, +BMGC_DS03442,BMG_DS004797,Partial circumpapillary choroid dystrophy,UMLS ID:C0154895,Partial circumpapillary choroid dystrophy | Partial circumpapillary dystrophy of choroid | Partial peripapillary dystrophy of choroid (disorder) | Partial peripapillary dystrophy of choroid | Partial peripapillary choroidal dystrophy,SNOMEDCT ID:193466003,,,partial circumpapillary choroid dystrophy,MONDO:0004888,,,partial circumpapillary choroid dystrophy,DOID:9811,, +BMGC_DS03443,BMG_DS004798,Total circumpapillary dystrophy of choroid,UMLS ID:C0154896,Total circumpapillary dystrophy of choroid | Total peripapillary choroidal dystrophy | Total peripapillary dystrophy of choroid (disorder) | Total peripapillary dystrophy of choroid,SNOMEDCT ID:59753003,,,total circumpapillary dystrophy of choroid,MONDO:0004898,,,total circumpapillary dystrophy of choroid,DOID:9842,, +BMGC_DS03444,BMG_DS004799,,UMLS ID:C0154898,,,,,total central choroidal atrophy,MONDO:0004889,,,central gyrate choroidal dystrophy,DOID:9820,, +BMGC_DS03445,BMG_DS004805,Disorder of iris and ciliary body,UMLS ID:C0154907,Cyclitis | Cyclitis (disorder),SNOMEDCT ID:17657000,,,,,,,,,, +BMGC_DS03446,BMG_DS004807,Primary iridocyclitis,UMLS ID:C0154909,Primary iridocyclitis | Primary iridocyclitis (disorder),SNOMEDCT ID:12630008 | SNOMEDCT ID:193485000,,,,,,,iridocyclitis,DOID:9383,ICD10 ID:H20.01, +BMGC_DS03447,BMG_DS004809,Secondary infected iridocyclitis,UMLS ID:C0154911,Secondary infected iridocyclitis | Secondary infected iridocyclitis (disorder),SNOMEDCT ID:193487008,,,infectious anterior uveitis,MONDO:0017210,,,infectious anterior uveitis,DOID:9389,, +BMGC_DS03448,BMG_DS004812,Rubeosis iridis,UMLS ID:C0154916,Rubeosis iridis | Rubeosis iridis (disorder) | Iris neovascularisation | Iris neovascularization | New vessels in iris | NVI - New vessels iris | Rubeotic iris,SNOMEDCT ID:51995000,"Disorders of the anterior chamber, unspecified",ICD11 ID:9A8Z,rubeosis iridis,MONDO:0001855,,,rubeosis iridis,DOID:14000,ICD10 ID:H21.1, +BMGC_DS03449,BMG_DS004824,,UMLS ID:C0154941,,,,,anatomical narrow angle borderline glaucoma,MONDO:0001686,,,anatomical narrow angle borderline glaucoma,DOID:13327,, +BMGC_DS03450,BMG_DS004825,Residual stage of open angle glaucoma,UMLS ID:C0154944,Residual stage of open angle glaucoma | Residual stage of open angle glaucoma (disorder),SNOMEDCT ID:66990007,,,residual stage of open angle glaucoma,MONDO:0001094,,,residual stage of open angle glaucoma,DOID:1066,, +BMGC_DS03451,BMG_DS004826,Intermittent angle-closure glaucoma,UMLS ID:C0154945,Intermittent angle-closure glaucoma | Interval angle-closure glaucoma | Subacute angle-closure glaucoma | Intermittent angle-closure glaucoma (disorder) | Subacute closed-angle glaucoma | Intermittent closed-angle glaucoma | Prodromal angle closure glaucoma,SNOMEDCT ID:65460003,,,interval angle-closure glaucoma,MONDO:0001742,,,interval angle-closure glaucoma,DOID:13549,ICD10 ID:H40.23, +BMGC_DS03452,BMG_DS004827,Acute angle-closure glaucoma,UMLS ID:C0154946,Acute angle-closure glaucoma | Acute angle-closure glaucoma (disorder) | AACG - Acute angle closure glaucoma,SNOMEDCT ID:30041005,,,acute closed-angle glaucoma,MONDO:0001817,,,acute closed-angle glaucoma,DOID:13862,ICD10 ID:H40.21, +BMGC_DS03453,BMG_DS004828,Anatomical narrow angle glaucoma,UMLS ID:C0154947,Anatomical narrow angle glaucoma | Narrow cleft glaucoma | Chronic angle-closure glaucoma | Chronic closed-angle glaucoma | Chronic narrow angle glaucoma | Anatomical narrow angle glaucoma (disorder) | CNAG - Chronic narrow angle glaucoma,SNOMEDCT ID:33647009,,,chronic closed-angle glaucoma,MONDO:0001966,,,chronic closed-angle glaucoma,DOID:14445,, +BMGC_DS03454,BMG_DS004829,Residual stage of angle-closure glaucoma,UMLS ID:C0154948,,,,,residual stage angle-closure glaucoma,MONDO:0001864,,,residual stage angle-closure glaucoma,DOID:1404,ICD10 ID:H40.24, +BMGC_DS03455,BMG_DS004834,,UMLS ID:C0154959,,,,,,,,,phacogenic glaucoma,DOID:12571,, +BMGC_DS03456,BMG_DS004839,Hypersecretion glaucoma,UMLS ID:C0154968,Hypersecretion glaucoma | Hypersecretion glaucoma (disorder),SNOMEDCT ID:29369005,,,hypersecretion glaucoma,MONDO:0001205,,,hypersecretion glaucoma,DOID:11148,ICD10 ID:H40.82, +BMGC_DS03457,BMG_DS004843,Cortical senile cataract,UMLS ID:C0154980,Cortical senile cataract | Cortical senile cataract (disorder),SNOMEDCT ID:193588001 | SNOMEDCT ID:78875003,,,cortical senile cataract,MONDO:0001749,,,cortical senile cataract,DOID:13574,, +BMGC_DS03458,BMG_DS004847,Transient refractive change,UMLS ID:C0155000,Transient refractive change | Transient refractive change (disorder),SNOMEDCT ID:81519008,,,transient refractive change,MONDO:0001390,,,transient refractive change,DOID:11850,, +BMGC_DS03459,BMG_DS004851,Abnormal retinal correspondence,UMLS ID:C0155010,Abnormal retinal correspondence | Abnormal retinal correspondence (disorder) | ARC - Abnormal retinal correspondence | Anomalous retinal correspondence,SNOMEDCT ID:79195003,,,abnormal retinal correspondence,MONDO:0001565,,,abnormal retinal correspondence,DOID:12668,ICD10 ID:H53.31, +BMGC_DS03460,BMG_DS004852,"Color Blindness, Red",UMLS ID:C0155015,,,,,red color blindness,MONDO:0010565,Color Vision Defects,MeSH ID:D003117,red color blindness,DOID:13910,,OMIM ID:303900 +BMGC_DS03461,BMG_DS004853,"Color Blindness, Red-Green",UMLS ID:C0155016,,,,,red-green color blindness,MONDO:0010564,Color Vision Defects,MeSH ID:D003117,red-green color blindness,DOID:13909,,OMIM ID:303800 +BMGC_DS03462,BMG_DS004854,"Color Blindness, Blue",UMLS ID:C0155017,,,,,blue color blindness,MONDO:0008610,Color Vision Defects,MeSH ID:D003117,blue color blindness,DOID:11661,,OMIM ID:190900 +BMGC_DS03463,BMG_DS004855,"Color Blindness, Acquired",UMLS ID:C0155018,,,,,acquired color blindness,MONDO:0001828,Color Vision Defects,MeSH ID:D003117,acquired color blindness,DOID:13912,, +BMGC_DS03464,BMG_DS004856,Abnormal dark adaptation curve,UMLS ID:C0155019,Abnormal dark adaptation curve | Abnormal threshold of rods | Abnormal threshold of cones | Delayed adaptation of cones | Delayed adaptation of rods | Abnormal dark adaptation curve (disorder) | Dark adaptation abnormality,SNOMEDCT ID:50455002,,,abnormal threshold of rods,MONDO:0001396,,,abnormal threshold of rods,DOID:11874,ICD10 ID:H53.61, +BMGC_DS03465,BMG_DS004857,,UMLS ID:C0155020,,,,,,,,,blindness,DOID:1432,, +BMGC_DS03466,BMG_DS004858,Marginal corneal ulcer,UMLS ID:C0155067,Marginal corneal ulcer | Marginal corneal ulcer (disorder),SNOMEDCT ID:47398006,,,marginal corneal ulcer,MONDO:0001034,,,marginal corneal ulcer,DOID:10441,ICD10 ID:H16.04, +BMGC_DS03467,BMG_DS004859,Ring corneal ulcer,UMLS ID:C0155068,Ring corneal ulcer | Ring corneal ulcer (disorder),SNOMEDCT ID:193760005 | SNOMEDCT ID:111520007,,,ring corneal ulcer,MONDO:0001037,,,ring corneal ulcer,DOID:10444,ICD10 ID:H16.02, +BMGC_DS03468,BMG_DS004860,Central corneal ulcer,UMLS ID:C0155069,Central corneal ulcer | Central corneal ulcer (disorder),SNOMEDCT ID:193761009 | SNOMEDCT ID:7426009,,,central corneal ulcer,MONDO:0004918,,,central corneal ulcer,DOID:9910,ICD10 ID:H16.01, +BMGC_DS03469,BMG_DS004861,Hypopyon ulcer,UMLS ID:C0155070,Hypopyon ulcer | Hypopyon ulcer (disorder) | Corneal ulcer with hypopyon | Ulcer: [hypopyon] or [serpiginous] | Hypopyon ulcer | Serpiginous ulcer | Ulcer: [hypopyon] or [serpiginous] (disorder) | Hypopyon ulcer | Hypopyon ulcer (disorder),SNOMEDCT ID:6395007 | SNOMEDCT ID:193762002 | SNOMEDCT ID:267633000,,,hypopyon ulcer,MONDO:0001035,,,hypopyon ulcer,DOID:10442,, +BMGC_DS03470,BMG_DS004862,Mycotic corneal ulcer,UMLS ID:C0155071,Mycotic corneal ulcer (disorder) | Mycotic corneal ulcer | Mycotic corneal ulcer | Fungal infection of cornea | Keratomycosis | Mycotic keratitis | Fungal corneal ulcer | Mycotic corneal ulcer (disorder),SNOMEDCT ID:397977001 | SNOMEDCT ID:59939007,,,mycotic corneal ulcer,MONDO:0001033,,,mycotic corneal ulcer,DOID:10440,ICD10 ID:H16.06, +BMGC_DS03471,BMG_DS004863,Mooren's ulcer,UMLS ID:C0155072,Mooren's ulcer | Mooren's ulcer (disorder) | Mooren ulcer | Mooren's corneal ulcer,SNOMEDCT ID:22440001,,,Mooren ulcer,MONDO:0001032,,,Mooren's ulcer,DOID:10439,, +BMGC_DS03472,BMG_DS004864,Superficial keratitis,UMLS ID:C0155074,Superficial keratitis | Superficial keratitis (disorder),SNOMEDCT ID:27019000,,,superficial keratitis,MONDO:0001465,,,superficial keratitis,DOID:12196,, +BMGC_DS03473,BMG_DS004865,Macular keratitis,UMLS ID:C0155076,Macular keratitis | Macular keratitis (disorder),SNOMEDCT ID:2853006,,,macular keratitis,MONDO:0001395,,,macular keratitis,DOID:11871,ICD10 ID:H16.11, +BMGC_DS03474,BMG_DS004866,Filamentary keratitis,UMLS ID:C0155077,Filamentary keratitis | Filamentary keratitis (disorder) | Filamentary keratopathy,SNOMEDCT ID:51286002,,,filamentary keratitis,MONDO:0003082,,,filamentary keratitis,DOID:4664,ICD10 ID:H16.12,OMIM ID:MTHU053349 +BMGC_DS03475,BMG_DS004867,Photokeratitis,UMLS ID:C0155078,Photokeratitis | Photokeratitis (disorder),SNOMEDCT ID:1714005,,,photokeratitis,MONDO:0001760,,,photokeratitis,DOID:13626,ICD10 ID:H16.13, +BMGC_DS03476,BMG_DS004868,Phlyctenular keratoconjunctivitis,UMLS ID:C0155080,Phlyctenular keratoconjunctivitis | Phlyctenular keratoconjunctivitis (disorder) | Phlyctenular keratoconjunctivitis | Phlyctenulosis | Strumous ophthalmia | Phlyctenular ophthalmia | Phlyctenular keratitis | Phlyctenular keratoconjunctivitis (disorder),SNOMEDCT ID:193773009 | SNOMEDCT ID:67895005,,,phlyctenulosis,MONDO:0001317,,,phlyctenulosis,DOID:11581,ICD10 ID:H16.25, +BMGC_DS03477,BMG_DS004870,Neurotrophic keratoconjunctivitis,UMLS ID:C0155084,Neurotrophic keratoconjunctivitis | Neurotrophic keratoconjunctivitis (disorder),SNOMEDCT ID:193777005 | SNOMEDCT ID:77080005,,,neurotrophic keratoconjunctivitis,MONDO:0001440,,,neurotrophic keratoconjunctivitis,DOID:12125,ICD10 ID:H16.23, +BMGC_DS03478,BMG_DS004871,Interstitial and deep keratitis,UMLS ID:C0155087,Interstitial and deep keratitis | Interstitial and deep keratitis (disorder),SNOMEDCT ID:193783008,"Certain specified disorders of cornea, unspecified",ICD11 ID:9A78.Z,,,,,deep keratitis,DOID:9858,ICD10 ID:H16.3, +BMGC_DS03479,BMG_DS004872,Interstitial keratitis,UMLS ID:C0155088,Interstitial keratitis | Interstitial keratitis (disorder) | Stromal keratitis | IK - Interstitial keratitis,SNOMEDCT ID:1763009,,,interstitial keratitis,MONDO:0004902,,,interstitial keratitis,DOID:9857,, +BMGC_DS03480,BMG_DS004873,Diffuse interstitial keratitis,UMLS ID:C0155089,Diffuse interstitial keratitis (& [Cogan's syndrome]) | Diffuse interstitial keratitis | Cogan's syndrome | Diffuse interstitial keratitis (& [Cogan's syndrome]) (disorder) | Diffuse interstitial keratitis | Diffuse interstitial keratitis (disorder),SNOMEDCT ID:193785001 | SNOMEDCT ID:267635007 | SNOMEDCT ID:17157001,,,diffuse interstitial keratitis,MONDO:0001694,,,diffuse interstitial keratitis,DOID:13353,ICD10 ID:H16.32, +BMGC_DS03481,BMG_DS004874,Sclerosing keratitis,UMLS ID:C0155090,Sclerosing keratitis | Sclerosing keratitis (disorder),SNOMEDCT ID:27886001,,,sclerosing keratitis,MONDO:0001965,,,sclerosing keratitis,DOID:14444,ICD10 ID:H16.33, +BMGC_DS03482,BMG_DS004875,Corneal abscess,UMLS ID:C0155091,Corneal abscess | Corneal abscess (disorder),SNOMEDCT ID:64366002,,,corneal abscess,MONDO:0001307,,,corneal abscess,DOID:11543,ICD10 ID:H16.31, +BMGC_DS03483,BMG_DS004879,Deep vascularization of cornea,UMLS ID:C0155095,Deep vascularization of cornea | Deep vascularisation of cornea | Deep vascularization of cornea (disorder) | Deep corneal vascularisation | Deep corneal vascularization,SNOMEDCT ID:2102007,,,deep corneal vascularisation,MONDO:0001430,,,deep corneal vascularisation,DOID:12087,ICD10 ID:H16.44, +BMGC_DS03484,BMG_DS004881,Phthisical cornea,UMLS ID:C0155102,Phthisical cornea | Phthisical cornea (disorder) | Phthisical cornea | Phthisical cornea (finding),SNOMEDCT ID:28143002 | SNOMEDCT ID:193801004,,,phthisical cornea,MONDO:0001368,,,phthisical cornea,DOID:11793,, +BMGC_DS03485,BMG_DS004882,Anterior corneal pigmentation,UMLS ID:C0155104,Anterior corneal pigmentation | Anterior corneal pigmentation (disorder),SNOMEDCT ID:18377001,,,anterior corneal pigmentation,MONDO:0001488,,,anterior corneal pigmentation,DOID:12307,, +BMGC_DS03486,BMG_DS004883,Stromal corneal pigmentation,UMLS ID:C0155105,Stromal corneal pigmentation | Stromal corneal pigmentation (disorder),SNOMEDCT ID:55031000,,,stromal corneal pigmentation,MONDO:0006613,,,stromal corneal pigmentation,DOID:12311,, +BMGC_DS03487,BMG_DS004884,Posterior corneal pigmentation,UMLS ID:C0155106,Posterior corneal pigmentation | Posterior corneal pigmentation (disorder) | Posterior corneal pigmentation (& [Krukenberg spindle]) | Posterior corneal pigmentation | Krukenberg spindle | Posterior corneal pigmentation (& [Krukenberg spindle]) (disorder),SNOMEDCT ID:11293004 | SNOMEDCT ID:193807000 | SNOMEDCT ID:267639001,,,posterior corneal pigmentation,MONDO:0001717,,,posterior corneal pigmentation,DOID:13448,, +BMGC_DS03488,BMG_DS004885,Argentous corneal deposit,UMLS ID:C0155108,Argentous corneal deposit | Argentous corneal deposit (disorder) | Argyrosis of cornea,SNOMEDCT ID:21328003,,,corneal argyrosis,MONDO:0001716,,,corneal argyrosis,DOID:13447,, +BMGC_DS03489,BMG_DS004886,Idiopathic corneal edema,UMLS ID:C0155109,Idiopathic corneal edema | Idiopathic corneal oedema | Idiopathic corneal edema (disorder),SNOMEDCT ID:193813009 | SNOMEDCT ID:1794009,,,idiopathic corneal edema,MONDO:0001182,,,idiopathic corneal edema,DOID:11033,ICD10 ID:H18.22, +BMGC_DS03490,BMG_DS004887,Secondary corneal edema,UMLS ID:C0155110,Secondary corneal edema | Secondary corneal oedema | Secondary corneal edema (disorder) | Secondary corneal oedema | Secondary corneal edema | Secondary corneal edema (disorder),SNOMEDCT ID:27536004 | SNOMEDCT ID:193814003,,,secondary corneal edema,MONDO:0001181,,,secondary corneal edema,DOID:11032,ICD10 ID:H18.23, +BMGC_DS03491,BMG_DS004888,Bullous keratopathy,UMLS ID:C0155111,Bullous keratopathy | Bullous keratopathy (disorder) | Bullous keratopathy | BK - Bullous keratopathy | Bullous keratopathy (disorder),SNOMEDCT ID:193815002 | SNOMEDCT ID:57207003,Bullous keratopathy,ICD11 ID:9A78.20,bullous keratopathy,MONDO:0001180,,,bullous keratopathy,DOID:11031,ICD10 ID:H18.1, +BMGC_DS03492,BMG_DS004889,Folds AND/OR rupture of Bowman's membrane,UMLS ID:C0155115,Folds AND/OR rupture of Bowman's membrane | Folds AND/OR rupture of Bowman's membrane (disorder) | Folds AND/OR rupture of Bowman membrane,SNOMEDCT ID:45382000,,,Bowman's membrane folds or rupture,MONDO:0001310,,,Bowman's membrane folds or rupture,DOID:11552,, +BMGC_DS03493,BMG_DS004890,Corneal degeneration,UMLS ID:C0155118,Corneal degeneration | Corneal degeneration (disorder),SNOMEDCT ID:111521006,Corneal degeneration,ICD11 ID:9A78.4,corneal degeneration,MONDO:0001515,,,corneal degeneration,DOID:1237,ICD10 ID:H18.4, +BMGC_DS03494,BMG_DS004891,Recurrent erosion of cornea,UMLS ID:C0155119,Recurrent erosion of cornea | Recurrent erosion of cornea (disorder) | Recurrent erosion syndrome | Recurrent corneal erosion,SNOMEDCT ID:2055003,,,,,,,recurrent corneal erosion,DOID:11541,ICD10 ID:H18.83, +BMGC_DS03495,BMG_DS004892,"Corneal Dystrophy, Band-Shaped",UMLS ID:C0155120,,,,,band keratopathy,MONDO:0009016,,MeSH ID:C562399,band keratopathy,DOID:11164,,OMIM ID:217500 +BMGC_DS03496,BMG_DS004894,Nodular degeneration of cornea,UMLS ID:C0155122,Nodular degeneration of cornea | Nodular degeneration of cornea (disorder),SNOMEDCT ID:72620002,,,nodular degeneration of cornea,MONDO:0002449,,,nodular degeneration of cornea,DOID:2879,, +BMGC_DS03497,BMG_DS004895,Peripheral degeneration of cornea,UMLS ID:C0155123,Peripheral degeneration of cornea | Peripheral degeneration of cornea (disorder),SNOMEDCT ID:89182000,,,peripheral degeneration of cornea,MONDO:0001983,,,peripheral degeneration of cornea,DOID:14507,, +BMGC_DS03498,BMG_DS004897,"Familial Amyloid Polyneuropathy, Type V",UMLS ID:C0155127,,,,,lattice corneal dystrophy,MONDO:0004686,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS03499,BMG_DS004898,"Keratoconus, stable condition",UMLS ID:C0155131,"Keratoconus, stable condition | Keratoconus, stable condition (disorder)",SNOMEDCT ID:193844000,,,"keratoconus, stable condition",MONDO:0001030,,,stable condition keratoconus,DOID:10428,, +BMGC_DS03500,BMG_DS004899,Corneal ectasia,UMLS ID:C0155135,Corneal ectasia | Corneal ectasia (disorder) | Ectasia of cornea,SNOMEDCT ID:14748007,,,corneal ectasia,MONDO:0001950,,,corneal ectasia,DOID:1436,ICD10 ID:H18.71,OMIM ID:MTHU061000 +BMGC_DS03501,BMG_DS004901,"Serous conjunctivitis, except viral",UMLS ID:C0155142,"Serous conjunctivitis, except viral | Serous conjunctivitis, except viral (disorder)",SNOMEDCT ID:9824006,,,serous conjunctivitis except viral,MONDO:0001219,,,serous conjunctivitis except viral,DOID:11197,ICD10 ID:H10.23, +BMGC_DS03502,BMG_DS004902,Acute follicular conjunctivitis,UMLS ID:C0155143,Acute follicular conjunctivitis | Conjunctival folliculosis | Acute follicular conjunctivitis (disorder),SNOMEDCT ID:41308008,,,conjunctival folliculosis,MONDO:0001228,,,conjunctival folliculosis,DOID:11219,ICD10 ID:H10.01, +BMGC_DS03503,BMG_DS004903,Pseudomembranous conjunctivitis,UMLS ID:C0155144,Conjunctivitis: [pseudomembranous] or [membranous] | Membranous conjunctivitis | Pseudomembranous conjunctivitis | Conjunctivitis: [pseudomembranous] or [membranous] (disorder) | Pseudomembranous conjunctivitis | Pseudomembranous conjunctivitis (disorder),SNOMEDCT ID:193862009 | SNOMEDCT ID:72115001 | SNOMEDCT ID:267643002,,,pseudomembranous conjunctivitis,MONDO:0001217,,,pseudomembranous conjunctivitis,DOID:11190,ICD10 ID:H10.22, +BMGC_DS03504,BMG_DS004904,Chronic conjunctivitis,UMLS ID:C0155145,Chronic conjunctivitis | Chronic conjunctivitis (disorder),SNOMEDCT ID:155163007 | SNOMEDCT ID:73762008,"Conjunctivitis, unspecified",ICD11 ID:9A60.Z,chronic conjunctivitis,MONDO:0002314,,,chronic conjunctivitis,DOID:2475,ICD10 ID:H10.4, +BMGC_DS03505,BMG_DS004905,Simple chronic conjunctivitis,UMLS ID:C0155146,Simple chronic conjunctivitis | Simple chronic conjunctivitis (disorder),SNOMEDCT ID:193866007 | SNOMEDCT ID:8211008,,,simple chronic conjunctivitis,MONDO:0004811,,,simple chronic conjunctivitis,DOID:9512,ICD10 ID:H10.42, +BMGC_DS03506,BMG_DS004906,Chronic follicular conjunctivitis,UMLS ID:C0155147,Chronic follicular conjunctivitis | Chronic follicular conjunctivitis (disorder),SNOMEDCT ID:39429002,,,chronic follicular conjunctivitis,MONDO:0001685,,,chronic follicular conjunctivitis,DOID:13326,ICD10 ID:H10.43, +BMGC_DS03507,BMG_DS004907,Parasitic conjunctivitis,UMLS ID:C0155148,Parasitic conjunctivitis | Parasitic conjunctivitis (disorder),SNOMEDCT ID:13816006,,,parasitic conjunctivitis,MONDO:0001690,,,parasitic conjunctivitis,DOID:13341,, +BMGC_DS03508,BMG_DS004908,Angular blepharoconjunctivitis,UMLS ID:C0155149,Angular blepharoconjunctivitis | Angular blepharoconjunctivitis (disorder),SNOMEDCT ID:69397000 | SNOMEDCT ID:193871000,,,angular blepharoconjunctivitis,MONDO:0002306,,,angular blepharoconjunctivitis,DOID:2455,ICD10 ID:H10.52, +BMGC_DS03509,BMG_DS004909,Contact blepharoconjunctivitis,UMLS ID:C0155150,Contact blepharoconjunctivitis | Contact blepharoconjunctivitis (disorder),SNOMEDCT ID:10813004 | SNOMEDCT ID:193872007,,,contact blepharoconjunctivitis,MONDO:0001853,,,contact blepharoconjunctivitis,DOID:13999,ICD10 ID:H10.53, +BMGC_DS03510,BMG_DS004910,Rosacea conjunctivitis,UMLS ID:C0155152,Rosacea conjunctivitis | Rosacea conjunctivitis (disorder),SNOMEDCT ID:10128002,,,rosacea conjunctivitis,MONDO:0004856,,,rosacea conjunctivitis,DOID:9709,ICD10 ID:H10.82, +BMGC_DS03511,BMG_DS004913,"Peripheral pterygium, progressive",UMLS ID:C0155155,"Peripheral pterygium, progressive | Peripheral pterygium, progressive (disorder)",SNOMEDCT ID:193881001,,,progressive peripheral pterygium,MONDO:0001723,,,progressive peripheral pterygium,DOID:13474,, +BMGC_DS03512,BMG_DS004914,,UMLS ID:C0155156,,,,,central pterygium,MONDO:0001722,,,central pterygium,DOID:13473,, +BMGC_DS03513,BMG_DS004915,Double pterygium,UMLS ID:C0155157,Double pterygium | Double pterygium (disorder),SNOMEDCT ID:193883003 | SNOMEDCT ID:41564009,,,double pterygium,MONDO:0001054,,,double pterygium,DOID:10525,, +BMGC_DS03514,BMG_DS004917,Conjunctival degeneration,UMLS ID:C0155160,Conjunctival degeneration | Conjunctival degeneration (disorder),SNOMEDCT ID:40787005,,,conjunctival degeneration,MONDO:0000949,,,conjunctival degeneration,DOID:10139,, +BMGC_DS03515,BMG_DS004918,Pseudopterygium,UMLS ID:C0155161,Pseudopterygium | Pseudopterygium (disorder),SNOMEDCT ID:66139007,,,pseudopterygium,MONDO:0001178,,,pseudopterygium,DOID:11028,, +BMGC_DS03516,BMG_DS004919,,UMLS ID:C0155162,,,,,conjunctival concretion,MONDO:0001412,,,conjunctival concretion,DOID:11988,, +BMGC_DS03517,BMG_DS004920,Conjunctival pigmentation,UMLS ID:C0155163,Conjunctival pigmentation | Conjunctival pigmentation (finding) | Conjunctival pigmentation | Conjunctival pigmentation (disorder),SNOMEDCT ID:267645009 | SNOMEDCT ID:66081003,,,conjunctival pigmentation,MONDO:0006537,,,conjunctival pigmentation,DOID:12304,, +BMGC_DS03518,BMG_DS004924,Ocular hyperemia,UMLS ID:C0155169,Hyperemia of eyes | Ocular hyperaemia | Ocular hyperemia | Hyperaemia of eyes | Ocular hyperemia (disorder) | Bloodshot eye | Hyperaemia of eye | Hyperemia of eye | Hyperemia of eye (finding) | Ocular hyperemia | Ocular hyperaemia | Hyperemia of conjunctiva | Hyperaemia of conjunctiva | Hyperemia of conjunctiva (disorder),SNOMEDCT ID:359610006 | SNOMEDCT ID:781682005 | SNOMEDCT ID:76849009,,,ocular hyperemia,MONDO:0001534,,,ocular hyperemia,DOID:1248,, +BMGC_DS03519,BMG_DS004927,Ulcerative blepharitis,UMLS ID:C0155173,Ulcerative blepharitis | Ulcerative blepharitis (disorder),SNOMEDCT ID:91662004,,,ulcerative blepharitis,MONDO:0004799,,,ulcerative blepharitis,DOID:9483,ICD10 ID:H01.01, +BMGC_DS03520,BMG_DS004928,Squamous blepharitis,UMLS ID:C0155174,Squamous blepharitis | Squamous blepharitis (disorder) | Anterior lid margin disease | Anterior squamous lid disease,SNOMEDCT ID:58912008,,,squamous blepharitis,MONDO:0001813,,,squamous blepharitis,DOID:13825,ICD10 ID:H01.02, +BMGC_DS03521,BMG_DS004930,Noninfectious dermatosis of eyelid,UMLS ID:C0155176,Noninfectious dermatosis of eyelid | Noninfectious dermatosis of eyelid (disorder) | Non-infectious dermatosis of eyelid,SNOMEDCT ID:111524003,,,noninfectious dermatoses of eyelid,MONDO:0002137,,,noninfectious dermatoses of eyelid,DOID:1894,, +BMGC_DS03522,BMG_DS004931,Eczematous dermatitis of eyelid,UMLS ID:C0155177,Eczematous dermatitis of eyelid | Eczema of eyelid | Eyelid eczema | Eczematous dermatitis of eyelid (disorder),SNOMEDCT ID:36259009,,,eczematous dermatitis of eyelid,MONDO:0002136,,,eczematous dermatitis of eyelid,DOID:1893,ICD10 ID:H01.13, +BMGC_DS03523,BMG_DS004932,Allergic contact dermatitis of eyelid,UMLS ID:C0155178,Allergic contact dermatitis of eyelid (disorder) | Allergic contact dermatitis of eyelid,SNOMEDCT ID:402249007,,,allergic contact dermatitis of eyelid,MONDO:0002138,,,allergic contact dermatitis of eyelid,DOID:1895,, +BMGC_DS03524,BMG_DS004933,Xeroderma of eyelid,UMLS ID:C0155179,Xeroderma of eyelid | Xeroderma of eyelid (disorder),SNOMEDCT ID:55846006,,,xeroderma of eyelid,MONDO:0004718,,,xeroderma of eyelid,DOID:9140,ICD10 ID:H01.14, +BMGC_DS03525,BMG_DS004934,Discoid lupus erythematosus of eyelid,UMLS ID:C0155180,Discoid lupus erythematosus of eyelid | Discoid lupus erythematosus of eyelid (disorder) | Discoid lupus erythematosus eyelid | Discoid lupus eyelid,SNOMEDCT ID:79291003,,,discoid lupus erythematosus of eyelid,MONDO:0004706,,,discoid lupus erythematosus of eyelid,DOID:9076,ICD10 ID:H01.12, +BMGC_DS03526,BMG_DS004935,,UMLS ID:C0155181,,,,,,,,,blepharitis,DOID:9423,, +BMGC_DS03527,BMG_DS004936,Parasitic eyelid infestation,UMLS ID:C0155183,Parasitic eyelid infestation | Parasitic eyelid infestation (disorder),SNOMEDCT ID:193922006,,,parasitic eyelid infestation,MONDO:0001812,,,parasitic eyelid infestation,DOID:13823,, +BMGC_DS03528,BMG_DS004938,Senile entropion,UMLS ID:C0155188,Senile entropion | Senile entropion (disorder) | Age-related entropion | Involutional entropion,SNOMEDCT ID:55408009,,,senile entropion,MONDO:0001591,,,senile entropion,DOID:12836,, +BMGC_DS03529,BMG_DS004939,Mechanical entropion,UMLS ID:C0155189,Mechanical entropion | Mechanical entropion (disorder),SNOMEDCT ID:38683003,,,mechanical entropion,MONDO:0001636,,,mechanical entropion,DOID:13112,, +BMGC_DS03530,BMG_DS004940,Spastic entropion,UMLS ID:C0155190,Spastic entropion | Spastic entropion (disorder),SNOMEDCT ID:20828000,,,spastic entropion,MONDO:0001518,,,spastic entropion,DOID:12395,, +BMGC_DS03531,BMG_DS004941,Cicatricial entropion,UMLS ID:C0155191,Cicatricial entropion | Cicatricial entropion (disorder),SNOMEDCT ID:67383002,,,cicatricial entropion,MONDO:0001637,,,cicatricial entropion,DOID:13113,, +BMGC_DS03532,BMG_DS004942,Senile ectropion,UMLS ID:C0155193,Senile ectropion | Senile ectropion (disorder) | Involutional ectropion | Age-related ectropion,SNOMEDCT ID:71659009,,,senile ectropion,MONDO:0001695,,,senile ectropion,DOID:13356,, +BMGC_DS03533,BMG_DS004943,Mechanical ectropion,UMLS ID:C0155194,Mechanical ectropion | Mechanical ectropion (disorder),SNOMEDCT ID:45020000,,,mechanical ectropion,MONDO:0002042,,,mechanical ectropion,DOID:1569,, +BMGC_DS03534,BMG_DS004944,Spastic ectropion,UMLS ID:C0155195,Spastic ectropion | Spastic ectropion (disorder),SNOMEDCT ID:80846000,,,spastic ectropion,MONDO:0002044,,,spastic ectropion,DOID:1571,, +BMGC_DS03535,BMG_DS004945,Cicatricial ectropion,UMLS ID:C0155196,Cicatricial ectropion | Cicatricial ectropion (disorder),SNOMEDCT ID:28914006,,,cicatricial ectropion,MONDO:0001582,,,cicatricial ectropion,DOID:12782,,OMIM ID:MTHU037244 +BMGC_DS03536,BMG_DS004946,Paralytic Lagophthalmos,UMLS ID:C0155197,,,,,paralytic lagophthalmos,MONDO:0001603,Lagophthalmos,MeSH ID:D000092164,paralytic lagophthalmos,DOID:12958,, +BMGC_DS03537,BMG_DS004947,Mechanical lagophthalmos,UMLS ID:C0155198,Mechanical lagophthalmos | Mechanical lagophthalmos (disorder),SNOMEDCT ID:193939008 | SNOMEDCT ID:21783006,,,mechanical lagophthalmos,MONDO:0001622,,,mechanical lagophthalmos,DOID:13037,ICD10 ID:H02.22, +BMGC_DS03538,BMG_DS004948,Cicatricial Lagophthalmos,UMLS ID:C0155199,,,,,cicatricial lagophthalmos,MONDO:0001623,Lagophthalmos,MeSH ID:D000092164,cicatricial lagophthalmos,DOID:13038,, +BMGC_DS03539,BMG_DS004952,Hyperpigmentation of Eyelids,UMLS ID:C0155211,,,,,hyperpigmentation of eyelid,MONDO:0007769,,MeSH ID:C562400,hyperpigmentation of eyelid,DOID:10122,,OMIM ID:145100 +BMGC_DS03540,BMG_DS004953,Hypopigmentation of eyelid,UMLS ID:C0155212,Hypopigmentation of eyelid | Hypopigmentation of eyelid (disorder),SNOMEDCT ID:193958004 | SNOMEDCT ID:68210006,,,eyelid hypopigmentation,MONDO:0006561,,,hypopigmentation of eyelid,DOID:11668,ICD10 ID:H02.73, +BMGC_DS03541,BMG_DS004954,Hypertrichosis of eyelid,UMLS ID:C0155213,Hypertrichosis of eyelid | Hypertrichosis of eyelid (disorder),SNOMEDCT ID:79830009,,,hypertrichosis of eyelid,MONDO:0001334,,,hypertrichosis of eyelid,DOID:11669,ICD10 ID:H02.86, +BMGC_DS03542,BMG_DS004955,Hypotrichosis of eyelid,UMLS ID:C0155214,Hypotrichosis of eyelid | Hypotrichosis of eyelid (disorder),SNOMEDCT ID:193959007 | SNOMEDCT ID:70738004,,,hypotrichosis of eyelid,MONDO:0001335,,,hypotrichosis of eyelid,DOID:11671,ICD10 ID:H02.72, +BMGC_DS03543,BMG_DS004958,Dacryoadenitis,UMLS ID:C0155223,Dacryoadenitis | Dacryadenitis | Dacryoadenitis (disorder),SNOMEDCT ID:86927009,"Disorders of lacrimal apparatus, unspecified",ICD11 ID:9A1Z,dacryoadenitis,MONDO:0004804,Dacryocystitis,MeSH ID:D003607,dacryoadenitis,DOID:950,ICD10 ID:H04.0, +BMGC_DS03544,BMG_DS004959,Chronic dacryoadenitis,UMLS ID:C0155224,Chronic dacryoadenitis | Chronic dacryoadenitis (disorder),SNOMEDCT ID:4760008,,,chronic dacryoadenitis,MONDO:0004800,,,chronic dacryoadenitis,DOID:949,ICD10 ID:H04.02, +BMGC_DS03545,BMG_DS004961,Primary lacrimal atrophy,UMLS ID:C0155229,Primary lacrimal atrophy | Primary lacrimal atrophy (disorder),SNOMEDCT ID:193978007 | SNOMEDCT ID:17093002,,,primary lacrimal atrophy,MONDO:0001851,,,primary lacrimal atrophy,DOID:1399,, +BMGC_DS03546,BMG_DS004962,Dislocation of lacrimal gland,UMLS ID:C0155231,Dislocation of lacrimal gland | Dislocation of lacrimal gland (disorder) | Prolapse of lacrimal gland,SNOMEDCT ID:84777002,,,prolapse of lacrimal gland,MONDO:0001203,,,prolapse of lacrimal gland,DOID:11134,, +BMGC_DS03547,BMG_DS004963,Epiphora due to excess lacrimation,UMLS ID:C0155233,Epiphora due to excess lacrimation | Epiphora due to excess lacrimation (disorder),SNOMEDCT ID:193984005 | SNOMEDCT ID:31788005,,,epiphora due to excess lacrimation,MONDO:0001918,,,epiphora due to excess lacrimation,DOID:14244,ICD10 ID:H04.21, +BMGC_DS03548,BMG_DS004964,Epiphora due to insufficient drainage,UMLS ID:C0155234,Epiphora due to insufficient drainage | Epiphora due to insufficient drainage (disorder),SNOMEDCT ID:85042000,,,epiphora due to insufficient drainage,MONDO:0001792,,,epiphora due to insufficient drainage,DOID:13756,ICD10 ID:H04.22, +BMGC_DS03549,BMG_DS004965,Acute dacryocystitis,UMLS ID:C0155237,(Acute and unspecified inflammation of lacrimal passages) or (acute dacryocystitis) | Dacryocystitis - acute | Acute dacryocystitis | Acute and unspecified inflammation of lacrimal passages | (Acute and unspecified inflammation of lacrimal passages) or (acute dacryocystitis) (disorder) | Acute dacryocystitis | Acute dacryocystitis (disorder),SNOMEDCT ID:193986007 | SNOMEDCT ID:25470000,,,acute dacryocystitis,MONDO:0001610,,,acute dacryocystitis,DOID:12996,ICD10 ID:H04.32, +BMGC_DS03550,BMG_DS004966,Phlegmonous dacryocystitis,UMLS ID:C0155238,Phlegmonous dacryocystitis | Cellulitis of lacrimal sac | Phlegmonous dacryocystitis (disorder) | Phlegmonous dacryocystitis | Phlegmonous dacryocystitis (disorder),SNOMEDCT ID:64324003 | SNOMEDCT ID:193988008,,,phlegmonous dacryocystitis,MONDO:0001611,,,Phlegmonous dacryocystitis,DOID:12997,ICD10 ID:H04.31, +BMGC_DS03551,BMG_DS004967,Chronic inflammation of lacrimal passage,UMLS ID:C0155239,Chronic inflammation of lacrimal passage (& [dacryocystitis]) | Dacryocystitis - chronic | Chronic inflammation of lacrimal passage | Chronic dacryocystitis | Chronic inflammation of lacrimal passage (& [dacryocystitis]) (disorder) | Chronic inflammation of lacrimal drainage structure (disorder) | Chronic inflammation of lacrimal drainage structure | Chronic inflammation of lacrimal passage,SNOMEDCT ID:193990009 | SNOMEDCT ID:787179008,,,chronic inflammation of lacrimal passage,MONDO:0004923,,,chronic inflammation of lacrimal passage,DOID:9935,, +BMGC_DS03552,BMG_DS004968,Chronic lacrimal canaliculitis,UMLS ID:C0155240,Chronic lacrimal canaliculitis | Chronic lacrimal canaliculitis (disorder) | Chronic canaliculitis,SNOMEDCT ID:26479009,,,chronic canaliculitis,MONDO:0004924,,,chronic canaliculitis,DOID:9936,ICD10 ID:H04.42, +BMGC_DS03553,BMG_DS004969,Lacrimal mucocele,UMLS ID:C0155241,Lacrimal mucocele | Dacryocele | Dacryocystocele | Lacrimal mucocele (disorder) | Lacrimal sac mucocele | Lacrimal mucocoele,SNOMEDCT ID:42758002,,,dacryocystocele,MONDO:0004927,,,dacryocystocele,DOID:9939,, +BMGC_DS03554,BMG_DS004970,Eversion of lacrimal punctum,UMLS ID:C0155243,Eversion of lacrimal punctum | Eversion of lacrimal punctum (disorder),SNOMEDCT ID:28244003,,,eversion of lacrimal punctum,MONDO:0001766,,,eversion of lacrimal punctum,DOID:13651,ICD10 ID:H04.52, +BMGC_DS03555,BMG_DS004971,Stenosis of lacrimal punctum,UMLS ID:C0155244,Stenosis of lacrimal punctum | Stenosis of lacrimal punctum (disorder) | Punctal stenosis,SNOMEDCT ID:74783009,,,stenosis of lacrimal punctum,MONDO:0001767,,,stenosis of lacrimal punctum,DOID:13653,ICD10 ID:H04.56, +BMGC_DS03556,BMG_DS004972,,UMLS ID:C0155245,,,,,stenosis of lacrimal passage,MONDO:0001768,,,stenosis of lacrimal passage,DOID:13654,, +BMGC_DS03557,BMG_DS004973,,UMLS ID:C0155246,,,,,stenosis of lacrimal sac,MONDO:0002511,,,stenosis of lacrimal sac,DOID:3096,, +BMGC_DS03558,BMG_DS004975,,UMLS ID:C0155248,,,,,acquired tear duct stenosis,MONDO:0001769,,,acquired tear duct stenosis,DOID:13655,, +BMGC_DS03559,BMG_DS004978,Lacrimal passage granuloma,UMLS ID:C0155253,Lacrimal passage granuloma | Lacrimal passage granuloma (disorder) | Granuloma of lacrimal passage | Lacrimal sac granuloma | Lacrimal passage granuloma | Lacrimal sac granuloma (disorder),SNOMEDCT ID:194001006 | SNOMEDCT ID:417563003,,,lacrimal passage granuloma,MONDO:0000957,,,lacrimal passage granuloma,DOID:10174,, +BMGC_DS03560,BMG_DS004979,,UMLS ID:C0155256,,,,,acute orbital inflammation,MONDO:0001230,,,acute orbital inflammation,DOID:11230,, +BMGC_DS03561,BMG_DS004980,Orbital periostitis,UMLS ID:C0155257,Orbital periostitis | Orbital periostitis (disorder) | Orbital osteoperiostitis,SNOMEDCT ID:65974003,,,orbital periostitis,MONDO:0001231,,,orbital periostitis,DOID:11231,, +BMGC_DS03562,BMG_DS004981,Orbital osteomyelitis,UMLS ID:C0155258,Orbital osteomyelitis | Orbital osteomyelitis (disorder),SNOMEDCT ID:65875003,,,orbital osteomyelitis,MONDO:0001232,,,orbital osteomyelitis,DOID:11232,, +BMGC_DS03563,BMG_DS004982,Tenonitis,UMLS ID:C0155259,Tenonitis | Tenonitis (disorder) | Orbital tenonitis,SNOMEDCT ID:8976003,,,orbital tenonitis,MONDO:0001233,,,orbital tenonitis,DOID:11233,, +BMGC_DS03564,BMG_DS004983,Chronic inflammation of orbit,UMLS ID:C0155261,Chronic inflammation of orbit | Chronic inflammation of orbit (disorder) | Chronic orbital inflammation,SNOMEDCT ID:44729001,,,chronic orbital inflammation,MONDO:0001849,,,chronic orbital inflammation,DOID:1397,, +BMGC_DS03565,BMG_DS004984,Orbital granuloma,UMLS ID:C0155262,Orbital granuloma | Orbital granuloma (disorder),SNOMEDCT ID:72776003 | SNOMEDCT ID:194008000,,,orbital granuloma,MONDO:0001048,,,orbital granuloma,DOID:10499,, +BMGC_DS03566,BMG_DS004986,Endocrine exophthalmos,UMLS ID:C0155264,Endocrine exophthalmos | Endocrine exophthalmos (disorder) | Dysthyroid exophthalmos | Thyroid-associated ophthalmopathy | Ophthalmic Graves disease | Dysthyroid eye disease | Endocrine orbitopathy | Graves' ophthalmopathy | Thyroid orbitopathy | Graves ophthalmopathy | Thyroid eye disease with exophthalmos (disorder) | Thyroid eye disease with exophthalmos | Dysthyroid exophthalmos | Endocrine exophthalmos | Thyroid eye disease | Thyroid eye disease (disorder) | Thyroid ophthalmopathy | Graves' ophthalmopathy | Graves ophthalmopathy | Endocrine orbitopathy | Dysthyroid eye disease | Graves eye disease | Graves' eye disease | Ophthalmic Graves disease | Thyroid orbitopathy | Thyroid-associated ophthalmopathy | Endocrine ophthalmopathy | Endocrine exophthalmos | Dysthyroid orbitopathy,SNOMEDCT ID:53061005 | SNOMEDCT ID:415717005 | SNOMEDCT ID:276177000,,,endocrine exophthalmos,MONDO:0001509,,,endocrine exophthalmos,DOID:12359,, +BMGC_DS03567,BMG_DS004987,Thyrotoxic exophthalmos,UMLS ID:C0155265,Thyrotoxic exophthalmos | Thyrotoxic exophthalmos (disorder),SNOMEDCT ID:19885005,,,thyrotoxic exophthalmos,MONDO:0001511,,,thyrotoxic exophthalmos,DOID:12362,, +BMGC_DS03568,BMG_DS004989,Constant exophthalmos,UMLS ID:C0155267,Constant exophthalmos | Constant exophthalmos (disorder),SNOMEDCT ID:194015008 | SNOMEDCT ID:89907009,,,constant exophthalmos,MONDO:0004929,,,constant exophthalmos,DOID:9945,ICD10 ID:H05.24, +BMGC_DS03569,BMG_DS004990,Intermittent exophthalmos,UMLS ID:C0155270,Intermittent exophthalmos | Intermittent exophthalmos (disorder) | Intermittent proptosis,SNOMEDCT ID:49774006,,,intermittent proptosis,MONDO:0001512,,,intermittent proptosis,DOID:12363,ICD10 ID:H05.25, +BMGC_DS03570,BMG_DS004991,Pulsating exophthalmos,UMLS ID:C0155271,Pulsating exophthalmos | Pulsating exophthalmos (disorder),SNOMEDCT ID:2284002,,,pulsating exophthalmos,MONDO:0001513,,,pulsating exophthalmos,DOID:12364,ICD10 ID:H05.26, +BMGC_DS03571,BMG_DS004992,Lateral displacement of eye,UMLS ID:C0155272,Lateral displacement of globe | Lateral displacement of eye | Lateral displacement of eye (disorder),SNOMEDCT ID:48747004,,,lateral displacement of eye,MONDO:0001510,,,lateral displacement of eye,DOID:12360,, +BMGC_DS03572,BMG_DS004997,Orbital cyst,UMLS ID:C0155285,Orbital cyst | Cyst of orbit | Cyst of orbit (disorder),SNOMEDCT ID:31021007,,,orbital cyst,MONDO:0001915,,,orbital cyst,DOID:14233,, +BMGC_DS03573,BMG_DS004998,Myopathy of extraocular muscles,UMLS ID:C0155286,Myopathy of extraocular muscles | Myopathy of extraocular muscles (disorder) | Extraocular myopathy,SNOMEDCT ID:57130002,,,myopathy of extraocular muscle,MONDO:0004746,,,myopathy of extraocular muscle,DOID:929,ICD10 ID:H05.82, +BMGC_DS03574,BMG_DS004999,Disorder of visual pathways,UMLS ID:C0155287,Disorder of visual pathways | Disorder of afferent visual pathways | Disorder of optic nerve and visual pathway | Disorder of visual pathways (disorder),SNOMEDCT ID:54767005,,,visual pathway disorder,MONDO:0001834,,,visual pathway disease,DOID:1393,, +BMGC_DS03575,BMG_DS005000,Papilledema Associated with Increased Intracranial Pressure,UMLS ID:C0155288,,,,,,,Papilledema,MeSH ID:D010211,optic papillitis,DOID:10175,, +BMGC_DS03576,BMG_DS005002,Primary optic atrophy,UMLS ID:C0155291,Primary optic atrophy | Primary optic atrophy (disorder),SNOMEDCT ID:21098003,,,primary optic atrophy,MONDO:0001084,,,primary optic atrophy,DOID:10627,ICD10 ID:H47.21, +BMGC_DS03577,BMG_DS005005,Partial optic atrophy,UMLS ID:C0155295,Partial optic atrophy | Partial optic atrophy (disorder) | Temporal pallor - optic disc | Partial optic atrophy | (Partial optic atrophy) or (temporal pallor - optic disc),SNOMEDCT ID:111527005 | SNOMEDCT ID:194044005,,,partial optic atrophy,MONDO:0001086,,,partial optic atrophy,DOID:10631,, +BMGC_DS03578,BMG_DS005007,Crater-like holes of optic disc,UMLS ID:C0155298,Crater-like holes of optic disc | Crater-like holes of optic disc (disorder),SNOMEDCT ID:19148004,,,,,,,crater-like holes of optic disc,DOID:13295,, +BMGC_DS03579,BMG_DS005008,,UMLS ID:C0155299,,,,,coloboma of optic nerve,MONDO:0007354,,,coloboma of optic nerve,DOID:11975,,OMIM ID:120430 +BMGC_DS03580,BMG_DS005009,Pseudopapilledema,UMLS ID:C0155300,Pseudopapilledema | Pseudopapilloedema | Pseudopapilledema (disorder) | Crowded optic disc,SNOMEDCT ID:57138009,,,obsolete pseudopapilledema,MONDO:0008331,,MeSH ID:C562401,pseudopapilledema,DOID:1392,,OMIM ID:177800 | OMIM ID:MTHU006800 +BMGC_DS03581,BMG_DS005010,Acute retrobulbar neuritis,UMLS ID:C0155301,Acute retrobulbar neuritis | Acute retrobulbar neuritis (disorder) | Acute retrobulbar optic neuritis,SNOMEDCT ID:51604006,,,acute retrobulbar neuritis,MONDO:0001895,,,acute retrobulbar neuritis,DOID:14155,, +BMGC_DS03582,BMG_DS005011,Nutritional optic neuropathy,UMLS ID:C0155302,Nutritional optic neuropathy | Disorder of optic nerve due to nutritional deficiency (disorder) | Disorder of optic nerve due to nutritional deficiency,SNOMEDCT ID:82108004,,,toxic or nutritional optic neuropathy,MONDO:0001431,,,nutritional optic neuropathy,DOID:1209,ICD10 ID:H46.2, +BMGC_DS03583,BMG_DS005012,Toxic Optic Neuropathy,UMLS ID:C0155303,,,,,toxic optic neuropathy,MONDO:0001688,Toxic Optic Neuropathy,MeSH ID:D000081028,toxic optic neuropathy,DOID:13329,, +BMGC_DS03584,BMG_DS005013,"Optic Neuropathy, Ischemic",UMLS ID:C0155305,,,,,,,"Optic Neuropathy, Ischemic",MeSH ID:D018917,anterior ischemic optic neuropathy,DOID:12010,, +BMGC_DS03585,BMG_DS005014,Optic chiasm disorder,UMLS ID:C0155307,Chiasma syndrome | Optic chiasm disorder | Optic chiasm disorder (disorder),SNOMEDCT ID:70476006,,,disorder of optic chiasm,MONDO:0003568,,,chiasmal syndrome,DOID:5655,, +BMGC_DS03586,BMG_DS005021,"Blindness, Cortical",UMLS ID:C0155320,,,,,cortical blindness,MONDO:0001385,"Blindness, Cortical",MeSH ID:D019575,cortical blindness,DOID:11831,, +BMGC_DS03587,BMG_DS005035,Esotropia with accommodative compensation,UMLS ID:C0155336,Esotropia with accommodative compensation | Esotropia with accommodative compensation (disorder),SNOMEDCT ID:194112008,,,accommodative esotropia,MONDO:0004895,,,accommodative esotropia,DOID:9839,, +BMGC_DS03588,BMG_DS005036,Total ophthalmoplegia,UMLS ID:C0155338,Total ophthalmoplegia | Total ophthalmoplegia (disorder),SNOMEDCT ID:78097002,,,,,,,ophthalmoplegia,DOID:539,, +BMGC_DS03589,BMG_DS005037,Brown Tendon Sheath Syndrome,UMLS ID:C0155339,,,,,Brown syndrome,MONDO:0014624,Ocular Motility Disorders,MeSH ID:D015835,Brown's tendon sheath syndrome,DOID:10235,,OMIM ID:616407 +BMGC_DS03590,BMG_DS005039,Episcleritis periodica fugax,UMLS ID:C0155351,Episcleritis periodica fugax | Episcleritis periodica fugax (disorder) | Episcleritis | Episcleritis (disorder) | Episcleritis periodica fugax,SNOMEDCT ID:194141004 | SNOMEDCT ID:31166000 | SNOMEDCT ID:815008,,,episcleritis periodica fugax,MONDO:0001439,,,episcleritis periodica fugax,DOID:12124,ICD10 ID:H15.11, +BMGC_DS03591,BMG_DS005040,Nodular episcleritis,UMLS ID:C0155352,Nodular episcleritis | Nodular episcleritis (disorder),SNOMEDCT ID:70558001,,,nodular episcleritis,MONDO:0004170,,,nodular episcleritis,DOID:728,ICD10 ID:H15.12, +BMGC_DS03592,BMG_DS005041,Anterior scleritis,UMLS ID:C0155353,Anterior scleritis | Anterior scleritis (disorder),SNOMEDCT ID:63454000,,,anterior scleritis,MONDO:0001804,,,anterior scleritis,DOID:13794,ICD10 ID:H15.01,OMIM ID:MTHU053348 +BMGC_DS03593,BMG_DS005042,Scleromalacia perforans,UMLS ID:C0155354,Scleromalacia perforans | Scleromalacia perforans (disorder) | Anterior necrotizing scleritis without inflammation | Anterior necrotising scleritis without inflammation,SNOMEDCT ID:26664005,,,scleromalacia perforans,MONDO:0001914,,,scleromalacia perforans,DOID:14230,ICD10 ID:H15.05, +BMGC_DS03594,BMG_DS005043,Scleritis with corneal involvement,UMLS ID:C0155355,Scleritis with corneal involvement | Scleroperikeratitis | Scleritis with corneal involvement (disorder),SNOMEDCT ID:42574005,,,scleroperikeratitis,MONDO:0001816,,,scleroperikeratitis,DOID:13861,ICD10 ID:H15.04, +BMGC_DS03595,BMG_DS005044,Brawny scleritis,UMLS ID:C0155356,Brawny scleritis | Brawny scleritis (disorder) | Diffuse scleritis,SNOMEDCT ID:91612009,,,brawny scleritis,MONDO:0001936,,,brawny scleritis,DOID:14287,ICD10 ID:H15.02, +BMGC_DS03596,BMG_DS005045,Posterior scleritis,UMLS ID:C0155357,(Posterior scleritis) or (sclerotenonitis) | Posterior scleritis | Sclerotenonitis | (Posterior scleritis) or (sclerotenonitis) (disorder) | Posterior scleritis | Posterior scleritis (disorder),SNOMEDCT ID:194144007 | SNOMEDCT ID:49429000 | SNOMEDCT ID:267660007,,,posterior scleritis,MONDO:0001774,,,posterior scleritis,DOID:13676,ICD10 ID:H15.03,OMIM ID:MTHU053352 +BMGC_DS03597,BMG_DS005047,Scleral staphyloma,UMLS ID:C0155359,Scleral staphyloma | Scleral staphyloma (disorder),SNOMEDCT ID:111534007,,,,,,,scleral staphyloma,DOID:11595,, +BMGC_DS03598,BMG_DS005048,Staphyloma posticum,UMLS ID:C0155360,Staphyloma posticum | Staphyloma posticum (disorder) | Posterior staphyloma | Partial scleral ectasia | Posterior scleral staphyloma,SNOMEDCT ID:87819007,,,staphyloma posticum,MONDO:0001801,,,staphyloma posticum,DOID:13789,ICD10 ID:H15.83, +BMGC_DS03599,BMG_DS005049,Equatorial staphyloma,UMLS ID:C0155361,Equatorial staphyloma | Equatorial staphyloma (disorder) | Equatorial scleral staphyloma,SNOMEDCT ID:82146006,,,equatorial staphyloma,MONDO:0001800,,,equatorial staphyloma,DOID:13788,ICD10 ID:H15.81, +BMGC_DS03600,BMG_DS005050,Localized anterior staphyloma,UMLS ID:C0155362,Localized anterior staphyloma | Localised anterior staphyloma | Anterior localised staphyloma | Anterior localized staphyloma | Localized anterior staphyloma (disorder),SNOMEDCT ID:21946002,,,localized anterior staphyloma,MONDO:0001799,,,localized anterior staphyloma,DOID:13787,ICD10 ID:H15.82, +BMGC_DS03601,BMG_DS005051,Ring staphyloma,UMLS ID:C0155363,Ring staphyloma | Ring staphyloma (disorder),SNOMEDCT ID:5299007,,,ring staphyloma,MONDO:0001320,,,ring staphyloma,DOID:11594,ICD10 ID:H15.85, +BMGC_DS03602,BMG_DS005053,Vitreous degeneration,UMLS ID:C0155366,Vitreous degeneration | Vitreous degeneration (disorder),SNOMEDCT ID:60189009,,,vitreous syneresis,MONDO:0001377,,,vitreous syneresis,DOID:11816,ICD10 ID:H43.81,OMIM ID:MTHU049388 +BMGC_DS03603,BMG_DS005057,Anterior dislocation of lens,UMLS ID:C0155372,Anterior dislocation of lens | Anterior dislocation of lens (disorder),SNOMEDCT ID:194160006 | SNOMEDCT ID:37283009,,,anterior dislocation of lens,MONDO:0002310,,,anterior dislocation of lens,DOID:2460,ICD10 ID:H27.12, +BMGC_DS03604,BMG_DS005058,Posterior dislocation of lens,UMLS ID:C0155373,Posterior dislocation of lens | Posterior dislocation of lens (disorder),SNOMEDCT ID:194161005 | SNOMEDCT ID:14169000,,,posterior dislocation of lens,MONDO:0001906,,,posterior dislocation of lens,DOID:14199,ICD10 ID:H27.13, +BMGC_DS03605,BMG_DS005059,Atypical Argyll-Robertson pupil (disorder),UMLS ID:C0155375,Atypical Argyll-Robertson pupil | Nonsyphilitic Argyll-Robertson phenomenon | Atypical Argyll-Robertson pupil (disorder),SNOMEDCT ID:21011008,,,,,,,Argyll Robertson pupil,DOID:14523,, +BMGC_DS03606,BMG_DS005060,Other anomalies of pupillary function,UMLS ID:C0155376,,,,,,,,,abnormal pupillary function,DOID:11518,ICD10 ID:H57.09, +BMGC_DS03607,BMG_DS005061,Nystagmus associated with disorder of the vestibular system,UMLS ID:C0155379,Vestibular nystagmus | Nystagmus associated with disorder of the vestibular system (disorder) | Nystagmus associated with disorder of the vestibular system,SNOMEDCT ID:46888001,,,,,,,vestibular nystagmus,DOID:14070,, +BMGC_DS03608,BMG_DS005062,Dissociated Nystagmus,UMLS ID:C0155380,,,,,dissociated nystagmus,MONDO:0001655,"Nystagmus, Pathologic",MeSH ID:D009759,dissociated nystagmus,DOID:13174,, +BMGC_DS03609,BMG_DS005064,,UMLS ID:C0155388,,,,,external ear disorder,MONDO:0002776,,,external ear disease,DOID:379,, +BMGC_DS03610,BMG_DS005065,Perichondritis of pinna,UMLS ID:C0155389,Perichondritis of pinna | Perichondritis of auricle | Perichondritis of pinna (disorder) | Perichondritis of pinna | Perichondritis of pinna (disorder),SNOMEDCT ID:34129005 | SNOMEDCT ID:155210008,Perichondritis of external ear,ICD11 ID:AA04,perichondritis of auricle,MONDO:0002246,,,perichondritis of auricle,DOID:222,ICD10 ID:H61.0, +BMGC_DS03611,BMG_DS005066,Acute perichondritis of pinna,UMLS ID:C0155390,Acute perichondritis of pinna | Acute perichondritis of pinna (disorder),SNOMEDCT ID:45855004,,,acute perichondritis of pinna,MONDO:0002240,,,acute perichondritis of pinna,DOID:221,, +BMGC_DS03612,BMG_DS005067,Chronic perichondritis of pinna,UMLS ID:C0155391,Chronic perichondritis of pinna | Chronic perichondritis of pinna (disorder) | Chronic pinna perichondritis (& [chondrodermatitis nodularis helicis]) | Chondrodermatitis nodularis helicis | Chronic perichondritis of pinna | Chronic pinna perichondritis | Chronic pinna perichondritis (& [chondrodermatitis nodularis helicis]) (disorder),SNOMEDCT ID:45431004 | SNOMEDCT ID:194195009,,,chronic perichondritis of pinna,MONDO:0001917,,,chronic perichondritis of pinna,DOID:14243,, +BMGC_DS03613,BMG_DS005068,Acute infection of pinna,UMLS ID:C0155392,Acute infection of pinna | Acute infection of pinna (disorder),SNOMEDCT ID:56663002,,,acute infection of pinna,MONDO:0001053,,,acute infection of pinna,DOID:10520,, +BMGC_DS03614,BMG_DS005069,Malignant otitis externa,UMLS ID:C0155395,Malignant otitis externa | Malignant otitis externa (disorder) | Malignant otitis externa | Malignant otitis externa (disorder) | Necrotising otitis externa | Necrotizing otitis externa,SNOMEDCT ID:194206006 | SNOMEDCT ID:94146005,Malignant otitis externa,ICD11 ID:AA02,malignant otitis externa,MONDO:0001050,,,malignant otitis externa,DOID:10516,ICD10 ID:H60.2, +BMGC_DS03615,BMG_DS005070,Chronic mycotic otitis externa,UMLS ID:C0155396,Chronic mycotic otitis externa | Chronic mycotic otitis externa (disorder) | Chronic fungal otitis externa,SNOMEDCT ID:111898002,,,chronic fungal otitis externa,MONDO:0001052,,,chronic fungal otitis externa,DOID:10519,, +BMGC_DS03616,BMG_DS005072,Cholesteatoma of external ear,UMLS ID:C0155398,Cholesteatoma of external ear | Cholesteatoma of external ear (disorder),SNOMEDCT ID:35247001,Cholesteatoma of external auditory canal,ICD11 ID:AA40.2,cholesteatoma of external ear,MONDO:0006532,,,cholesteatoma of external ear,DOID:9462,ICD10 ID:H60.4, +BMGC_DS03617,BMG_DS005075,Exostosis of external ear canal,UMLS ID:C0155411,Exostosis of external ear canal | Exostosis of external ear canal (disorder) | External auditory canal exostosis | Swimmers exostosis,SNOMEDCT ID:19560007,,,ear exostoses,MONDO:0007498,,,,,,OMIM ID:128300 +BMGC_DS03618,BMG_DS005077,Acute serous otitis media,UMLS ID:C0155415,Acute serous otitis media | Acute serous otitis media (disorder) | Acute non-suppurative serous otitis media (disorder) | Acute nonsuppurative serous otitis media | Acute non-suppurative serous otitis media,SNOMEDCT ID:11957006 | SNOMEDCT ID:194240006,Acute serous or mucoid otitis media,ICD11 ID:AA80,acute serous otitis media,MONDO:0001312,,,acute serous otitis media,DOID:11557,ICD10 ID:H65.0, +BMGC_DS03619,BMG_DS005078,Acute allergic serous otitis media,UMLS ID:C0155418,Acute allergic serous otitis media | Acute allergic serous otitis media (disorder),SNOMEDCT ID:194241005 | SNOMEDCT ID:59275002,,,acute allergic serous otitis media,MONDO:0001313,,,acute allergic serous otitis media,DOID:11558,, +BMGC_DS03620,BMG_DS005079,Acute allergic mucoid otitis media,UMLS ID:C0155419,Acute allergic mucoid otitis media | Acute allergic mucoid otitis media (disorder),SNOMEDCT ID:194242003 | SNOMEDCT ID:8326008,,,acute allergic mucoid otitis media,MONDO:0004864,,,acute allergic mucoid otitis media,DOID:9735,, +BMGC_DS03621,BMG_DS005080,Acute allergic sanguineous otitis media,UMLS ID:C0155420,Acute allergic sanguinous otitis media | Acute allergic sanguineous otitis media (disorder) | Acute allergic sanguineous otitis media,SNOMEDCT ID:17866004,,,acute allergic sanguinous otitis media,MONDO:0002757,,,acute allergic sanguinous otitis media,DOID:3728,, +BMGC_DS03622,BMG_DS005081,Chronic serous otitis media,UMLS ID:C0155421,"Chronic serous otitis media | Simple chronic serous otitis media | Glue ear - serous | Otitis media with effusion - serous | Chronic secretory otitis media, serous | Chronic non-suppurative otitis media with effusion - serous | Chronic serous otitis media (disorder)",SNOMEDCT ID:81564005,Chronic serous or mucoid otitis media,ICD11 ID:AA82,serous glue ear,MONDO:0001213,,,serous glue ear,DOID:11181,ICD10 ID:H65.2, +BMGC_DS03623,BMG_DS005082,Eustachian tube salpingitis,UMLS ID:C0155428,Eustachian tube salpingitis | Eustachian tube salpingitis (disorder) | Otosalpingitis | Eustachian salpingitis | Tubotympanitis | Eustachian tube: [salpingitis] or [catarrh] | Eustachian tube salpingitis | Catarrh - eustachian | Eustachian tube: [salpingitis] or [catarrh] (disorder),SNOMEDCT ID:270491006 | SNOMEDCT ID:194266009,,,otosalpingitis,MONDO:0002172,,,otosalpingitis,DOID:2000,, +BMGC_DS03624,BMG_DS005083,Acute eustachian tube salpingitis,UMLS ID:C0155429,Acute eustachian tube salpingitis | Acute eustachian tube salpingitis (disorder),SNOMEDCT ID:194268005,,,acute eustachian salpingitis,MONDO:0001064,,,acute eustachian salpingitis,DOID:10550,, +BMGC_DS03625,BMG_DS005084,Chronic eustachian tube salpingitis,UMLS ID:C0155430,Chronic eustachian tube salpingitis | Chronic eustachian tube salpingitis (disorder) | Chronic eustachian salpingitis,SNOMEDCT ID:194269002,,,chronic eustachian salpingitis,MONDO:0002170,,,chronic eustachian salpingitis,DOID:1999,, +BMGC_DS03626,BMG_DS005087,Patulous eustachian tube,UMLS ID:C0155434,Patulous eustachian tube | Patulous eustachian tube (disorder),SNOMEDCT ID:30280005,,,patulous eustachian tube,MONDO:0001508,,,patulous eustachian tube,DOID:12358,, +BMGC_DS03627,BMG_DS005088,,UMLS ID:C0155435,,,,,,,,,eustachian tube disease,DOID:9739,, +BMGC_DS03628,BMG_DS005089,,UMLS ID:C0155439,,,,,,,,,purulent acute otitis media,DOID:10435,, +BMGC_DS03629,BMG_DS005090,Chronic tubotympanic suppurative otitis media,UMLS ID:C0155440,Chronic tubotympanic suppurative otitis media | Chronic tubotympanic suppurative otitis media (disorder) | Chronic suppurative otitis media - tubotympanic,SNOMEDCT ID:87665008,Chronic tubotympanic suppurative otitis media,ICD11 ID:AA91.0,chronic tubotympanic suppurative otitis media,MONDO:0001964,,,chronic tubotympanic suppurative otitis media,DOID:14435,ICD10 ID:H66.1, +BMGC_DS03630,BMG_DS005091,Chronic atticoantral suppurative otitis media,UMLS ID:C0155441,Chronic atticoantral suppurative otitis media | Chronic atticoantral disease with posterior AND/OR superior marginal perforation of ear drum | Persistent mucosal disease with posterior AND/OR superior marginal perforation of ear drum | Chronic atticoantral suppurative otitis media (disorder) | Chronic suppurative otitis media - atticoantral,SNOMEDCT ID:41954005,Chronic atticoantral suppurative otitis media,ICD11 ID:AA91.1,chronic atticoantral disease,MONDO:0001921,,,chronic atticoantral disease,DOID:14248,ICD10 ID:H66.2, +BMGC_DS03631,BMG_DS005095,Petrositis,UMLS ID:C0155448,Petrositis &/or other mastoiditis | Other mastoiditis | Petrositis | Petrositis &/or other mastoiditis (disorder) | Petrositis &/or other mastoiditis | Petrositis | Other mastoiditis | Petrositis &/or other mastoiditis (disorder) | Petrositis | Inflammation of petrous bone | Petrositis (disorder),SNOMEDCT ID:155233009 | SNOMEDCT ID:267760001 | SNOMEDCT ID:34997001,Petrositis,ICD11 ID:AB11.2,petrositis,MONDO:0001109,Petrositis,MeSH ID:D059270,petrositis,DOID:10755,ICD10 ID:H70.2, +BMGC_DS03632,BMG_DS005096,Acute petrositis,UMLS ID:C0155449,Acute petrositis | Acute petrositis (disorder),SNOMEDCT ID:51211002,,,,,,,petrositis,DOID:10755,ICD10 ID:H70.21, +BMGC_DS03633,BMG_DS005097,Chronic petrositis,UMLS ID:C0155450,Chronic petrositis | Chronic petrositis (disorder),SNOMEDCT ID:28593007,,,,,,,petrositis,DOID:10755,ICD10 ID:H70.22, +BMGC_DS03634,BMG_DS005100,Acute myringitis,UMLS ID:C0155460,Acute myringitis | Acute tympanitis | Acute myringitis (disorder),SNOMEDCT ID:297009,Acute myringitis,ICD11 ID:AB14,acute tympanitis,MONDO:0001802,,,acute tympanitis,DOID:13790,ICD10 ID:H73.0, +BMGC_DS03635,BMG_DS005101,Bullous myringitis,UMLS ID:C0155461,Bullous myringitis | Myringitis bullosa hemorrhagica | Myringitis bullosa haemorrhagica | Bullous myringitis (disorder) | Myringitis bullosa,SNOMEDCT ID:33528003,,,myringitis bullosa hemorrhagica,MONDO:0001803,,,myringitis bullosa hemorrhagica,DOID:13791,ICD10 ID:H73.01, +BMGC_DS03636,BMG_DS005106,Atrophic flaccid tympanic membrane,UMLS ID:C0155470,Atrophic flaccid tympanic membrane | Atrophic flaccid tympanic membrane (disorder),SNOMEDCT ID:38645004,,,atrophic flaccid tympanic membrane,MONDO:0003647,,,atrophic flaccid tympanic membrane,DOID:5781,ICD10 ID:H73.81, +BMGC_DS03637,BMG_DS005107,Atrophic nonflaccid tympanic membrane,UMLS ID:C0155471,Atrophic nonflaccid tympanic membrane | Atrophic nonflaccid tympanic membrane (disorder),SNOMEDCT ID:194323000 | SNOMEDCT ID:72052003,,,atrophic nonflaccid tympanic membrane,MONDO:0001547,,,atrophic nonflaccid tympanic membrane,DOID:12546,ICD10 ID:H73.82, +BMGC_DS03638,BMG_DS005109,Tympanosclerosis involving other combination of structures,UMLS ID:C0155477,Tympanosclerosis involving other combination of structures | Tympanosclerosis involving other combination of structures (disorder),SNOMEDCT ID:111540000,,,,,,,tympanosclerosis,DOID:1214,, +BMGC_DS03639,BMG_DS005110,Adhesive middle ear disease,UMLS ID:C0155478,Adhesive middle ear disease | Chronic adhesive otitis media | Fibrotic adhesive otitis media | Adhesive otitis media | Adhesive middle ear disease (disorder),SNOMEDCT ID:7699004,Adhesive middle ear disease,ICD11 ID:AB17,adhesive otitis media,MONDO:0001234,,,adhesive otitis media,DOID:11235,ICD10 ID:H74.1, +BMGC_DS03640,BMG_DS005112,,UMLS ID:C0155487,,,,,,,,,dislocation of ear ossicle,DOID:11129,, +BMGC_DS03641,BMG_DS005113,,UMLS ID:C0155488,,,,,,,,,necrosis of ear ossicle,DOID:11783,, +BMGC_DS03642,BMG_DS005114,Cholesteatoma of attic,UMLS ID:C0155489,Cholesteatoma of attic | Cholesteatoma of attic (disorder),SNOMEDCT ID:38708003,,,cholesteatoma of attic,MONDO:0006531,,,cholesteatoma of attic,DOID:10963,ICD10 ID:H71.0, +BMGC_DS03643,BMG_DS005115,Middle Ear Cholesteatoma,UMLS ID:C0155490,,,,,cholesteatoma of middle ear,MONDO:0006533,"Cholesteatoma, Middle Ear",MeSH ID:D018424,cholesteatoma of middle ear,DOID:10964,, +BMGC_DS03644,BMG_DS005117,,UMLS ID:C0155492,,,,,middle ear cholesterol granuloma,MONDO:0001141,,,middle ear cholesterol granuloma,DOID:10852,, +BMGC_DS03645,BMG_DS005119,Active cochleovestibular Ménière's disease,UMLS ID:C0155496,Active cochleovestibular Meniere's disease | Active cochleovestibular Ménière's disease (disorder) | Active cochleovestibular Ménière's disease | Active cochleovestibular Ménière disease,SNOMEDCT ID:194348002,,,active cochleovestibular Meniere disease,MONDO:0001727,,,active cochleovestibular Meniere's disease,DOID:13490,, +BMGC_DS03646,BMG_DS005120,Active cochlear Ménière's disease,UMLS ID:C0155497,Active cochlear Meniere's disease | Active cochlear Ménière's disease (disorder) | Active cochlear Ménière's disease | Active cochlear Ménière disease,SNOMEDCT ID:194349005,,,active cochlear Meniere disease,MONDO:0001729,,,active cochlear Meniere's disease,DOID:13492,, +BMGC_DS03647,BMG_DS005121,Active vestibular Ménière's disease,UMLS ID:C0155498,Active vestibular Meniere's disease | Active vestibular Ménière's disease (disorder) | Active vestibular Ménière's disease | Active vestibular Ménière disease,SNOMEDCT ID:194350005,,,active vestibular Meniere disease,MONDO:0001728,,,active vestibular Meniere's disease,DOID:13491,, +BMGC_DS03648,BMG_DS005123,"Vertigo, Peripheral",UMLS ID:C0155501,,,,,peripheral vertigo,MONDO:0004900,Vertigo,MeSH ID:D014717,,,, +BMGC_DS03649,BMG_DS005124,Benign Paroxysmal Positional Vertigo,UMLS ID:C0155502,,,,,benign paroxysmal positional vertigo,MONDO:8000018,Benign Paroxysmal Positional Vertigo,MeSH ID:D065635,benign paroxysmal positional vertigo,DOID:13941,,OMIM ID:193007 +BMGC_DS03650,BMG_DS005125,Central Nervous System Origin Vertigo,UMLS ID:C0155503,,,,,central nervous system origin vertigo,MONDO:0002317,Vertigo,MeSH ID:D014717,central nervous system origin vertigo,DOID:2479,, +BMGC_DS03651,BMG_DS005126,Serous labyrinthitis,UMLS ID:C0155504,Serous labyrinthitis | Serous labyrinthitis (disorder),SNOMEDCT ID:41674001,,,serous labyrinthitis,MONDO:0002006,,,serous labyrinthitis,DOID:1467,, +BMGC_DS03652,BMG_DS005127,Circumscribed labyrinthitis,UMLS ID:C0155505,Circumscribed labyrinthitis | Focal labyrinthitis | Circumscribed labyrinthitis (disorder) | Circumscribed labyrinthitis | Circumscribed labyrinthitis (disorder),SNOMEDCT ID:61794006 | SNOMEDCT ID:194364005,,,focal labyrinthitis,MONDO:0001820,,,focal labyrinthitis,DOID:13867,, +BMGC_DS03653,BMG_DS005128,Suppurative labyrinthitis,UMLS ID:C0155506,Suppurative labyrinthitis | Purulent labyrinthitis | Suppurative labyrinthitis (disorder),SNOMEDCT ID:24817009,,,purulent labyrinthitis,MONDO:0001739,,,purulent labyrinthitis,DOID:13534,, +BMGC_DS03654,BMG_DS005129,Toxic labyrinthitis,UMLS ID:C0155507,Toxic labyrinthitis | Toxic labyrinthitis (disorder),SNOMEDCT ID:3344003,,,toxic labyrinthitis,MONDO:0001874,,,toxic labyrinthitis,DOID:14081,, +BMGC_DS03655,BMG_DS005130,Viral labyrinthitis,UMLS ID:C0155508,Viral labyrinthitis (disorder) | Viral labyrinthitis | Viral otitis interna | Viral labyrinthitis | Viral otitis interna | Vestibular neuritis | Vestibular neuronitis | Acute peripheral vestibulopathy | Epidemic neurolabyrinthitis | Epidemic vertigo | Viral labyrinthitis (disorder),SNOMEDCT ID:409711008 | SNOMEDCT ID:34243007,,,viral labyrinthitis,MONDO:0001507,,,viral labyrinthitis,DOID:12357,, +BMGC_DS03656,BMG_DS005131,Labyrinthine dysfunction,UMLS ID:C0155514,Labyrinthine dysfunction | Labyrinthine dysfunction (disorder),SNOMEDCT ID:5239005,Labyrinthine dysfunction,ICD11 ID:AB36,,,,,labyrinthine dysfunction,DOID:566,ICD10 ID:H83.2 | ICD10 ID:H83.2X, +BMGC_DS03657,BMG_DS005132,,UMLS ID:C0155515,,,,,unilateral hyperactive labyrinth,MONDO:0002107,,,unilateral hyperactive labyrinth,DOID:1777,, +BMGC_DS03658,BMG_DS005133,Hyperactive bilateral labyrinthine dysfunction,UMLS ID:C0155516,Hyperactive bilateral labyrinthine dysfunction | Hyperactive bilateral labyrinthine dysfunction (disorder),SNOMEDCT ID:194373002,,,bilateral hyperactive labyrinth,MONDO:0001897,,,bilateral hyperactive labyrinth,DOID:14165,, +BMGC_DS03659,BMG_DS005134,,UMLS ID:C0155517,,,,,unilateral hypoactive labyrinth,MONDO:0004801,,,unilateral hypoactive labyrinth,DOID:9496,, +BMGC_DS03660,BMG_DS005135,Hypoactive bilateral labyrinthine dysfunction,UMLS ID:C0155518,Hypoactive bilateral labyrinthine dysfunction | Hypoactive bilateral labyrinthine dysfunction (disorder),SNOMEDCT ID:194375009,,,bilateral hypoactive labyrinth,MONDO:0003567,,,bilateral hypoactive labyrinth,DOID:565,, +BMGC_DS03661,BMG_DS005136,,UMLS ID:C0155519,,,,,labyrinthine unilateral reactive loss,MONDO:0002106,,,labyrinthine unilateral reactive loss,DOID:1776,, +BMGC_DS03662,BMG_DS005137,,UMLS ID:C0155520,,,,,labyrinthine bilateral reactive loss,MONDO:0001959,,,labyrinthine bilateral reactive loss,DOID:14413,, +BMGC_DS03663,BMG_DS005142,,UMLS ID:C0155540,,,,,discharging ear,MONDO:0000988,,,otorrhea,DOID:10261,, +BMGC_DS03664,BMG_DS005154,Chronic rheumatic pericarditis,UMLS ID:C0155561,Chronic rheumatic pericarditis | Chronic rheumatic pericarditis (disorder) | Chronic rheumatic pericarditis | Chronic rheumatic heart disease with pericarditis | Rheumatic heart disease with pericarditis | Chronic pericarditis due to rheumatic heart disease (disorder) | Chronic pericarditis due to rheumatic heart disease,SNOMEDCT ID:194719006 | SNOMEDCT ID:155287003 | SNOMEDCT ID:78069008,Chronic rheumatic pericarditis,ICD11 ID:BB21,chronic rheumatic pericarditis,MONDO:0002133,,,chronic rheumatic pericarditis,DOID:1869,ICD10 ID:I09.2, +BMGC_DS03665,BMG_DS005155,Rheumatic mitral regurgitation,UMLS ID:C0155563,Rheumatic mitral regurgitation | Rheumatic mitral incompetence | Rheumatic mitral insufficiency | Rheumatic mitral regurgitation (disorder) | Rheumatic mitral regurgitation | Rheumatic mitral regurgitation (disorder),SNOMEDCT ID:31085000 | SNOMEDCT ID:155278007,Rheumatic mitral valve insufficiency,ICD11 ID:BB61.0,,,,,mitral valve disease,DOID:61,ICD10 ID:I05.1, +BMGC_DS03666,BMG_DS005156,Rheumatic aortic stenosis,UMLS ID:C0155567,Rheumatic aortic stenosis | Rheumatic aortic stenosis (disorder),SNOMEDCT ID:155282009 | SNOMEDCT ID:72011007,Rheumatic aortic valve stenosis,ICD11 ID:BB70.0,,,,,aortic valve stenosis,DOID:1712,ICD10 ID:I06.0, +BMGC_DS03667,BMG_DS005157,Rheumatic aortic regurgitation,UMLS ID:C0155568,Rheumatic aortic regurgitation | Rheumatic aortic regurgitation (disorder) | Rheumatic aortic regurgitation | Rheumatic aortic incompetence | Rheumatic aortic insufficiency | Rheumatic aortic regurgitation (disorder) | Aortic incompetence - rheumatic,SNOMEDCT ID:155283004 | SNOMEDCT ID:78031003,Rheumatic aortic valve insufficiency,ICD11 ID:BB71.0,,,,,aortic valve insufficiency,DOID:57,ICD10 ID:I06.1, +BMGC_DS03668,BMG_DS005159,Rheumatic disease of pulmonary valve,UMLS ID:C0155579,Rheumatic disease of pulmonary valve | Rheumatic pulmonary valve disease | Rheumatic disease of pulmonary valve (disorder),SNOMEDCT ID:18687009,,,rheumatic pulmonary valve disease,MONDO:0003627,,,rheumatic pulmonary valve disease,DOID:5748,ICD10 ID:I09.89, +BMGC_DS03669,BMG_DS005160,Congestive rheumatic heart failure,UMLS ID:C0155582,Congestive rheumatic heart failure | Congestive rheumatic heart failure (disorder),SNOMEDCT ID:82523003,,,rheumatic congestive heart failure,MONDO:0001899,,,rheumatic congestive heart failure,DOID:14172,, +BMGC_DS03670,BMG_DS005161,Benign essential hypertension (disorder),UMLS ID:C0155583,Benign essential hypertension | Benign essential hypertension (disorder),SNOMEDCT ID:194758001 | SNOMEDCT ID:1201005,,,benign essential hypertension,MONDO:0001151,,,benign essential hypertension,DOID:10913,, +BMGC_DS03671,BMG_DS005167,Malignant hypertensive renal disease,UMLS ID:C0155593,Malignant hypertensive renal disease | Malignant hypertensive renal disease (disorder),SNOMEDCT ID:65443008,,,malignant hypertensive renal disease,MONDO:0000959,,,malignant hypertensive renal disease,DOID:10177,, +BMGC_DS03672,BMG_DS005168,Benign hypertensive renal disease,UMLS ID:C0155596,Benign hypertensive renal disease | Benign hypertensive renal disease (disorder),SNOMEDCT ID:193003,,,benign hypertensive renal disease,MONDO:0001304,,,benign hypertensive renal disease,DOID:11520,, +BMGC_DS03673,BMG_DS005173,Secondary hypertension,UMLS ID:C0155616,Secondary hypertension | Secondary hypertension (disorder),SNOMEDCT ID:31992008 | SNOMEDCT ID:155300002,,,secondary hypertension,MONDO:0001200,,,secondary hypertension,DOID:11130,ICD10 ID:I15, +BMGC_DS03674,BMG_DS005174,Malignant secondary hypertension,UMLS ID:C0155617,Malignant secondary hypertension | Accelerated secondary hypertension | Malignant secondary hypertension (disorder),SNOMEDCT ID:89242004,,,malignant secondary hypertension,MONDO:0001785,,,malignant secondary hypertension,DOID:13731,, +BMGC_DS03675,BMG_DS005175,Benign secondary hypertension,UMLS ID:C0155620,Benign secondary hypertension | Benign secondary hypertension (disorder) | Secondary benign hypertension | Secondary benign hypertension | Secondary benign hypertension (disorder) | Benign secondary hypertension,SNOMEDCT ID:44111003 | SNOMEDCT ID:194785008,,,benign secondary hypertension,MONDO:0001646,,,benign secondary hypertension,DOID:13143,, +BMGC_DS03676,BMG_DS005176,,UMLS ID:C0155621,,,,,benign renovascular hypertension,MONDO:0001647,,,benign renovascular hypertension,DOID:13145,, +BMGC_DS03677,BMG_DS005177,Acute myocardial infarction,UMLS ID:C0155626,Myocardial infarction (& [acute]) or coronary thrombosis | Coronary thrombosis | Myocardial infarct | Heart attack | Attack - heart | MI - Acute myocardial infarction | MI/Acute myocardial infarction | Acute myocardial infarction | Myocardial infarction (& [acute]) or coronary thrombosis (disorder) | MI/Acute myocardial infarction | Acute myocardial infarction | Coronary thrombosis | Attack - heart | Heart attack | MI - Acute myocardial infarction | Myocardial infarct | Myocardial infarction (& [acute]) or coronary thrombosis | Myocardial infarction (& [acute]) or coronary thrombosis (disorder) | Coronary thrombosis | Thrombosis - coronary | Silent myocardial infarction | MI - Acute myocardial infarction | Heart attack | Cardiac rupture after acute myocardial infarction | Acute myocardial infarction | Attack - heart | Cardiac rupture following myocardial infarction (MI) | MI - acute myocardial infarction | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) (disorder) | Acute myocardial infarction | Acute myocardial infarction (disorder) | AMI - Acute myocardial infarction,SNOMEDCT ID:155304006 | SNOMEDCT ID:266288001 | SNOMEDCT ID:194796000 | SNOMEDCT ID:57054005,,,acute myocardial infarction,MONDO:0004781,,,acute myocardial infarction,DOID:9408,ICD10 ID:I21, +BMGC_DS03678,BMG_DS005178,Acute myocardial infarction of anterolateral wall,UMLS ID:C0155627,Acute myocardial infarction of anterolateral wall | Acute myocardial infarction of anterolateral wall (disorder) | Acute anterolateral myocardial infarction,SNOMEDCT ID:70211005,,,acute anterolateral myocardial infarction,MONDO:0001090,,,acute anterolateral myocardial infarction,DOID:10651,, +BMGC_DS03679,BMG_DS005179,,UMLS ID:C0155636,,,,,,,,,acute inferolateral myocardial infarction,DOID:10649,, +BMGC_DS03680,BMG_DS005180,,UMLS ID:C0155640,,,,,,,,,acute inferoposterior infarction,DOID:10648,, +BMGC_DS03681,BMG_DS005181,,UMLS ID:C0155652,,,,,,,,,strictly posterior acute myocardial infarction,DOID:9407,, +BMGC_DS03682,BMG_DS005182,,UMLS ID:C0155655,,,,,,,,,subendocardial infarction acute myocardial infarction,DOID:10266,, +BMGC_DS03683,BMG_DS005184,Acute pulmonary heart disease,UMLS ID:C0155671,Acute pulmonary heart disease | Acute pulmonary heart disease (disorder) | Acute cor pulmonale | Acute cor pulmonale (disorder) | Acute pulmonary heart disease,SNOMEDCT ID:155324005 | SNOMEDCT ID:194880009 | SNOMEDCT ID:49584005 | SNOMEDCT ID:67189007,,,acute cor pulmonale,MONDO:0004598,,,acute cor pulmonale | acute pulmonary heart disease,DOID:8514;DOID:8517,, +BMGC_DS03684,BMG_DS005185,,UMLS ID:C0155673,,,,,,,,,chronic pulmonary heart disease,DOID:12326,, +BMGC_DS03685,BMG_DS005187,Acute pericarditis,UMLS ID:C0155679,Acute pericarditis | Acute pericarditis (disorder) | (Acute pericarditis) or (acute pericardial effusion) | Acute pericarditis | Pericardial effusion - acute | (Acute pericarditis) or (acute pericardial effusion) (disorder),SNOMEDCT ID:155333007 | SNOMEDCT ID:194902002 | SNOMEDCT ID:15555002,,,,,,,,,ICD10 ID:I30, +BMGC_DS03686,BMG_DS005191,Acute myocarditis,UMLS ID:C0155686,Acute myocarditis | Acute myocarditis (disorder),SNOMEDCT ID:155336004 | SNOMEDCT ID:46701001,,,acute myocarditis,MONDO:0002815,,,acute myocarditis,DOID:3951,ICD10 ID:I40, +BMGC_DS03687,BMG_DS005192,Isolated (Fiedler's) myocarditis,UMLS ID:C0155689,Myocarditis: [isolated - Fiedler's] or [giant cell] | Isolated (Fiedler's) myocarditis | Giant cell myocarditis | Myocarditis: [isolated - Fiedler's] or [giant cell] (disorder) | Isolated (Fiedler's) myocarditis | Isolated (Fiedler's) myocarditis (disorder),SNOMEDCT ID:194954007 | SNOMEDCT ID:266238009,,,Fiedler's myocarditis,MONDO:0001113,,,fiedler's myocarditis,DOID:10778,, +BMGC_DS03688,BMG_DS005193,Septic myocarditis,UMLS ID:C0155690,Bacterial myocarditis | Septic myocarditis | Bacterial myocarditis (disorder),SNOMEDCT ID:64043005,Infectious myocarditis,ICD11 ID:BC42.1,,,,,septic myocarditis,DOID:10779,ICD10 ID:I40.0, +BMGC_DS03689,BMG_DS005194,Toxic myocarditis,UMLS ID:C0155691,Toxic myocarditis | Toxic myocarditis (disorder) | Acute toxic disorder of myocardium,SNOMEDCT ID:31993003,,,toxic myocarditis,MONDO:0004851,,,toxic myocarditis,DOID:9694,, +BMGC_DS03690,BMG_DS005198,,UMLS ID:C0155699,,,,,,,,,extrinsic cardiomyopathy,DOID:3978,, +BMGC_DS03691,BMG_DS005199,Mobitz type II atrioventricular block,UMLS ID:C0155700,Mobitz type II atrioventricular block | Mobitz type II incomplete atrioventricular block | Second degree Mobitz type II incomplete atrioventricular block | Mobitz type II atrioventricular block (disorder),SNOMEDCT ID:28189009,,,Mobitz type II atrioventricular block,MONDO:0001261,,,Mobitz type II atrioventricular block,DOID:11312,, +BMGC_DS03692,BMG_DS005200,Left bundle branch hemiblock,UMLS ID:C0155702,Left bundle branch hemiblock | Left bundle branch hemiblock (disorder) | Left bundle branch [block] or [hemiblock] | Left bundle branch block | Left bundle branch hemiblock | Left bundle branch [block] or [hemiblock] (disorder),SNOMEDCT ID:4973001 | SNOMEDCT ID:266245009 | SNOMEDCT ID:195044001,,,,,,,left bundle branch hemiblock,DOID:10272,, +BMGC_DS03693,BMG_DS005201,Right bundle branch block AND left posterior fascicular block,UMLS ID:C0155704,Right bundle branch block AND left posterior fascicular block | Right bundle branch block AND left posterior fascicular block (disorder) | RBBB - Right bundle branch block with left posterior fascicular block | Right bundle branch block with left posterior fascicular block,SNOMEDCT ID:46319007,,,,,,,right bundle branch block,DOID:13209,, +BMGC_DS03694,BMG_DS005205,,UMLS ID:C0155724,,,,,,,,,vertebral artery occlusion,DOID:11299,, +BMGC_DS03695,BMG_DS005206,Occlusion and stenosis of unspecified precerebral artery,UMLS ID:C0155727,,,Asymptomatic stenosis of intracranial or extracranial artery,ICD11 ID:BD55,,,,,occlusion precerebral artery,DOID:5976,ICD10 ID:I65.9, +BMGC_DS03696,BMG_DS005208,Atherosclerosis of aorta,UMLS ID:C0155733,Atherosclerosis of aorta | Atherosclerosis of aorta (disorder) | Atherosclerotic aorta,SNOMEDCT ID:81817003,Atherosclerosis of aorta,ICD11 ID:BD40.1,aortic atherosclerosis,MONDO:0000980,,,aortic atherosclerosis,DOID:10230,ICD10 ID:I70.0, +BMGC_DS03697,BMG_DS005209,Atherosclerosis of renal artery,UMLS ID:C0155734,Atherosclerosis of renal artery | Atherosclerosis of renal artery (disorder) | Renal artery atheroma | Renal artery atherosclerosis | Atherosclerosis renal artery,SNOMEDCT ID:45281005,Atherosclerosis of renal artery,ICD11 ID:BD40.2,renal artery atheroma,MONDO:0001876,,,renal artery atheroma,DOID:14092,ICD10 ID:I70.1, +BMGC_DS03698,BMG_DS005219,Disease of capillaries,UMLS ID:C0155765,Capillary disease | Capillary disorder | Microangiopathy | Disorder of capillaries (disorder) | Disorder of capillaries,SNOMEDCT ID:58729003,,,capillary disorder,MONDO:0001574,,,capillary disease,DOID:1271,, +BMGC_DS03699,BMG_DS005221,Phlebitis and thrombophlebitis of iliac vein,UMLS ID:C0155772,Phlebitis and thrombophlebitis of iliac vein | Phlebitis and thrombophlebitis of iliac vein (disorder),SNOMEDCT ID:840713005,,,,,,,iliac vein thrombophlebitis,DOID:10880,ICD10 ID:I80.21, +BMGC_DS03700,BMG_DS005222,,UMLS ID:C0155773,,,,,portal vein thrombosis,MONDO:0001339,,,portal vein thrombosis,DOID:11695,, +BMGC_DS03701,BMG_DS005223,,UMLS ID:C0155774,,,,,,,,,vein disease,DOID:866,, +BMGC_DS03702,BMG_DS005228,,UMLS ID:C0155784,,,,,perianal hematoma,MONDO:0004871,,,perianal hematoma,DOID:9745,, +BMGC_DS03703,BMG_DS005230,Bleeding esophageal varices,UMLS ID:C0155789,Bleeding esophageal varices | Bleeding oesophageal varices | Bleeding oesophageal varices (disorder) | Bleeding esophageal varices | Esophageal varices with hemorrhage | Bleeding oesophageal varices | Oesophageal varices with haemorrhage | Bleeding esophageal varices (disorder) | Oesophageal varices with bleeding | BOV - Bleeding oesophageal varices | Esophageal varices with bleeding | BOV - Bleeding esophageal varices,SNOMEDCT ID:236067006 | SNOMEDCT ID:17709002,,,esophageal varices with bleeding,MONDO:0021645,,,esophageal varix,DOID:112,, +BMGC_DS03704,BMG_DS005231,,UMLS ID:C0155791,,,,,,,,,esophageal varix,DOID:112,, +BMGC_DS03705,BMG_DS005232,,UMLS ID:C0155792,,,,,,,,,esophageal varix,DOID:112,, +BMGC_DS03706,BMG_DS005233,Varicose veins of pelvis,UMLS ID:C0155795,Pelvic varices | Varicose veins of pelvis (disorder) | Varicose veins of pelvis,SNOMEDCT ID:17406005,,,pelvic varices,MONDO:0004869,,,pelvic varices,DOID:9742,, +BMGC_DS03707,BMG_DS005236,Acute maxillary sinusitis,UMLS ID:C0155804,Acute maxillary sinusitis | Acute maxillary sinusitis (disorder) | Acute maxillary sinusitis | Acute antritis | Acute maxillary sinusitis (disorder),SNOMEDCT ID:155499007 | SNOMEDCT ID:68272006,Acute sinusitis | Maxillary sinus,ICD11 ID:CA01 | ICD11 ID:XA1R64,acute maxillary sinusitis,MONDO:0002186,,,acute maxillary sinusitis,DOID:2050,ICD10 ID:J01.0, +BMGC_DS03708,BMG_DS005237,Acute frontal sinusitis,UMLS ID:C0155805,Acute frontal sinusitis | Acute frontal sinusitis (disorder),SNOMEDCT ID:155500003 | SNOMEDCT ID:91038008,Frontal sinus | Acute sinusitis,ICD11 ID:XA91G8 | ICD11 ID:CA01,acute frontal sinusitis,MONDO:0001912,,,acute frontal sinusitis,DOID:14225,ICD10 ID:J01.1, +BMGC_DS03709,BMG_DS005238,Acute ethmoidal sinusitis,UMLS ID:C0155806,Acute ethmoidal sinusitis | Acute ethmoidal sinusitis (disorder) | Acute ethmoiditis,SNOMEDCT ID:67832005,Acute sinusitis | Ethmoid sinus,ICD11 ID:CA01 | ICD11 ID:XA58F6,acute ethmoiditis,MONDO:0004810,,,acute ethmoiditis,DOID:9506,ICD10 ID:J01.2, +BMGC_DS03710,BMG_DS005239,Acute sphenoidal sinusitis,UMLS ID:C0155807,Acute sphenoidal sinusitis | Acute sphenoidal sinusitis (disorder),SNOMEDCT ID:77919000,Acute sinusitis | Sphenoid sinus,ICD11 ID:CA01 | ICD11 ID:XA4U67,acute sphenoidal sinusitis,MONDO:0001624,,,acute sphenoidal sinusitis,DOID:13046,ICD10 ID:J01.3, +BMGC_DS03711,BMG_DS005242,Acute laryngitis and/or tracheitis,UMLS ID:C0155811,Acute laryngitis/tracheitis | Acute laryngitis and/or tracheitis (disorder) | Acute laryngitis and/or tracheitis,SNOMEDCT ID:276443001,,,,,,,laryngotracheitis,DOID:0050148,, +BMGC_DS03712,BMG_DS005244,Acute epiglottitis,UMLS ID:C0155814,Acute epiglottitis | Acute epiglottitis and supraglottitis | Acute epiglottitis (disorder),SNOMEDCT ID:29608009,Acute epiglottitis,ICD11 ID:CA06.1,acute epiglottitis,MONDO:0041366,,,epiglottitis,DOID:9398,ICD10 ID:J05.1, +BMGC_DS03713,BMG_DS005246,Acute laryngopharyngitis,UMLS ID:C0155817,Acute laryngopharyngitis | Acute laryngopharyngitis (disorder),SNOMEDCT ID:55355000,Acute laryngopharyngitis,ICD11 ID:CA04,acute laryngopharyngitis,MONDO:0001218,,,acute laryngopharyngitis,DOID:11195,ICD10 ID:J06.0, +BMGC_DS03714,BMG_DS005250,Chronic pharyngitis and nasopharyngitis,UMLS ID:C0155824,Chronic pharyngitis and nasopharyngitis | Chronic pharyngitis and nasopharyngitis (disorder),SNOMEDCT ID:195763009,,,,,,,pharyngitis,DOID:2275,, +BMGC_DS03715,BMG_DS005252,Chronic nasopharyngitis,UMLS ID:C0155826,Chronic nasopharyngitis | Chronic nasopharyngitis (disorder),SNOMEDCT ID:155524006 | SNOMEDCT ID:47841006,Chronic nasopharyngitis,ICD11 ID:CA09.1,,,,,nasopharyngitis,DOID:10460,ICD10 ID:J31.1, +BMGC_DS03716,BMG_DS005259,Chronic laryngitis,UMLS ID:C0155836,Chronic laryngitis | Chronic laryngitis (disorder),SNOMEDCT ID:155535001 | SNOMEDCT ID:29951006,Chronic laryngitis or laryngotracheitis,ICD11 ID:CA0G,chronic laryngitis,MONDO:0001369,,,chronic laryngitis,DOID:11797,ICD10 ID:J37.0, +BMGC_DS03717,BMG_DS005260,Chronic laryngotracheitis,UMLS ID:C0155837,Chronic laryngotracheitis | Chronic laryngotracheitis (disorder),SNOMEDCT ID:83271005,Chronic laryngitis or laryngotracheitis,ICD11 ID:CA0G,,,,,laryngotracheitis,DOID:0050148,ICD10 ID:J37.1, +BMGC_DS03718,BMG_DS005272,Pneumonia caused by Pseudomonas,UMLS ID:C0155860,Pseudomonal pneumonia | Pneumonia caused by Pseudomonas | Pneumonia caused by Pseudomonas (disorder),SNOMEDCT ID:41381004,,,,,,,,,, +BMGC_DS03719,BMG_DS005273,Streptococcal pneumonia,UMLS ID:C0155862,Streptococcal pneumonia | Pneumonia caused by Streptococcus | Pneumonia caused by Streptococcus (disorder),SNOMEDCT ID:34020007,,,streptococcal pneumonia,MONDO:0005972,,,,,, +BMGC_DS03720,BMG_DS005275,Inhalational anthrax,UMLS ID:C0155866,Woolsorters' disease | Respiratory anthrax | Pulmonary anthrax | Inhalational anthrax (disorder) | Inhalational anthrax,SNOMEDCT ID:11389007,,,inhalational anthrax,MONDO:0016595,,,,,, +BMGC_DS03721,BMG_DS005282,Allergic asthma,UMLS ID:C0155877,Allergic asthma | Allergic asthma (disorder) | Allergic asthma (disorder) | Allergic asthma | Asthma: [extrinsic - atopic] or [allergic] or [pollen] or [childhood] or [with hay fever] | Pollen asthma | Allergic asthma | Extrinsic (atopic) asthma | Childhood asthma | Hay fever with asthma | Asthma: [extrinsic - atopic] or [allergic] or [pollen] or [childhood] or [with hay fever] (disorder) | Extrinsic asthma | Atopic asthma | Childhood asthma | Allergic asthma | Allergic atopic asthma | Extrinsic asthma (disorder),SNOMEDCT ID:233680000 | SNOMEDCT ID:389145006 | SNOMEDCT ID:195968006 | SNOMEDCT ID:16862005,,,allergic asthma,MONDO:0004784,,,allergic asthma,DOID:9415,, +BMGC_DS03722,BMG_DS005284,Intrinsic asthma,UMLS ID:C0155880,Asthma: [intrinsic] or [late onset] | Intrinsic asthma | Late-onset asthma | Late-onset asthma (LOA) | Late onset asthma | LOA - late onset asthma | Asthma: [intrinsic] or [late onset] (disorder) | (Intrinsic asthma) or (late onset asthma) | Late onset asthma | Late-onset asthma | Intrinsic asthma | (Intrinsic asthma) or (late onset asthma) (disorder) | LOA - late onset asthma | Late-onset asthma | Late-onset asthma (LOA) | Intrinsic asthma | Late onset asthma | Asthma: [intrinsic] or [late onset] | Asthma: [intrinsic] or [late onset] (disorder) | Intrinsic asthma | Intrinsic asthma (disorder) | Intrinsic asthma | Non-allergic asthma | Asthma due to internal immunological process | Non-allergic asthma (disorder),SNOMEDCT ID:266397004 | SNOMEDCT ID:195973000 | SNOMEDCT ID:155576005 | SNOMEDCT ID:8312004 | SNOMEDCT ID:266361008,,,intrinsic asthma,MONDO:0004765,,,intrinsic asthma,DOID:9360,, +BMGC_DS03723,BMG_DS005286,Malt-workers' lung,UMLS ID:C0155888,Malt-workers' lung | Malt-workers' alveolitis | Malt-workers' lung disease | Malt fever | Malt house workers' cough | Alveolitis due to Aspergillus clavatus AND/OR fumigatus | Malt-workers' lung (disorder) | Malt workers' lung | Malt workers lung | Malt workers' hypersensitivity pneumonitis,SNOMEDCT ID:25897000,,,malt worker's lung,MONDO:0002266,,,malt worker's lung,DOID:2314,, +BMGC_DS03724,BMG_DS005287,Mushroom Worker's Lung,UMLS ID:C0155889,,,,,mushroom workers' lung,MONDO:0005865,Farmer's Lung,MeSH ID:D005203,mushroom workers' lung,DOID:2708,, +BMGC_DS03725,BMG_DS005288,Maple-bark strippers' lung,UMLS ID:C0155890,Maple-bark strippers' lung | Alveolitis due to Cryptostroma corticale | Maple-bark disease | Maple-bark strippers' disease | Maple-bark strippers' lung (disorder) | Maple bark strippers' lung | Maple bark strippers lung | Maple bark strippers' hypersensitivity pneumonitis,SNOMEDCT ID:86638007,,,maple bark strippers' lung,MONDO:0004584,,,maple bark strippers' lung,DOID:8484,, +BMGC_DS03726,BMG_DS005289,Humidifier lung,UMLS ID:C0155891,Humidifier lung | Air conditioner lung | Ventilation pneumonitis | Humidifier AND/OR air conditioning pneumonitis | Humidifier lung (disorder) | Sauna takers lung | Air-conditioner and humidifier lung | Humidifier hypersensitivity pneumonitis,SNOMEDCT ID:48347002,,,ventilation pneumonitis,MONDO:0001255,,,ventilation pneumonitis,DOID:11289,, +BMGC_DS03727,BMG_DS005296,Spontaneous tension pneumothorax,UMLS ID:C0155907,Spontaneous tension pneumothorax | Spontaneous tension pneumothorax (disorder),SNOMEDCT ID:76537003 | SNOMEDCT ID:196102003,Spontaneous tension pneumothorax,ICD11 ID:CB21.0,spontaneous tension pneumothorax,MONDO:0002075,,,spontaneous tension pneumothorax,DOID:1672,ICD10 ID:J93.0, +BMGC_DS03728,BMG_DS005297,Abscess of lung and mediastinum,UMLS ID:C0155908,Abscess of lung and mediastinum | Abscess of lung and mediastinum (disorder),SNOMEDCT ID:196107009,,,,,,,,,ICD10 ID:J85, +BMGC_DS03729,BMG_DS005300,Pulmonary Alveolar Microlithiasis,UMLS ID:C0155912,,,,,pulmonary alveolar microlithiasis,MONDO:0009928,,MeSH ID:C562405,pulmonary alveolar microlithiasis,DOID:12117,,OMIM ID:265100 +BMGC_DS03730,BMG_DS005301,Compensatory emphysema,UMLS ID:C0155918,Compensatory emphysema | Compensatory emphysema (disorder),SNOMEDCT ID:33325001,Compensatory emphysema,ICD11 ID:CB40.4,compensatory emphysema,MONDO:0000924,,,compensatory emphysema,DOID:10031,ICD10 ID:J98.3, +BMGC_DS03731,BMG_DS005302,Acute pulmonary edema,UMLS ID:C0155919,Acute pulmonary edema (disorder) | Acute pulmonary edema | Acute pulmonary oedema | Acute pulmonary edema | Acute edema of lung | Acute pulmonary oedema | Acute oedema of lung | Acute pulmonary edema (disorder) | Pulmonary oedema - acute | Pulmonary edema - acute,SNOMEDCT ID:123262009 | SNOMEDCT ID:40541001,,,,,,,,,ICD10 ID:J81.0, +BMGC_DS03732,BMG_DS005305,Tooth Ankylosis,UMLS ID:C0155930,,,,,tooth ankylosis,MONDO:0008007,Tooth Ankylosis,MeSH ID:D020254,tooth ankylosis,DOID:12661,,OMIM ID:157950 +BMGC_DS03733,BMG_DS005307,Acute apical periodontitis of pulpal origin,UMLS ID:C0155934,Acute apical periodontitis of pulpal origin | Acute apical periodontitis | Acute apical periodontitis of pulpal origin (disorder),SNOMEDCT ID:88071000,Acute apical periodontitis of pulpal origin,ICD11 ID:DA09.70,,,,,acute apical periodontitis,DOID:11693,ICD10 ID:K04.4, +BMGC_DS03734,BMG_DS005309,Acute gingivitis,UMLS ID:C0155937,Acute gingivitis | Acute gingival inflammation | Acute gingivitis (disorder) | Acute gingivitis | Acute gingivitis (disorder),SNOMEDCT ID:31642005 | SNOMEDCT ID:155643004 | SNOMEDCT ID:234990002,Other specified gingival diseases,ICD11 ID:DA0B.Y,,,,,gingivitis,DOID:3087,ICD10 ID:K05.0, +BMGC_DS03735,BMG_DS005320,,UMLS ID:C0155963,,,,,median rhomboid glossitis,MONDO:0001880,,,median rhomboid glossitis,DOID:14111,, +BMGC_DS03736,BMG_DS005321,Atrophy of tongue papillae,UMLS ID:C0155964,Atrophy of tongue papillae | Smooth atrophic tongue | Atrophic glossitis | Hunter's glossitis | Bald tongue | Glossodynia exfoliativa | Moeller's glossitis | Glazed tongue | Tongue denuded of papillae | Moeller's glossodynia exfoliativa | Atrophy of tongue papillae (disorder) | Atrophy of tongue papillae | Atrophy of tongue papillae (disorder),SNOMEDCT ID:9491003 | SNOMEDCT ID:196588005 | SNOMEDCT ID:196585008 | SNOMEDCT ID:196586009,Atrophy of tongue papillae,ICD11 ID:DA03.2,atrophic glossitis,MONDO:0001989,,,atrophic glossitis,DOID:1453,ICD10 ID:K14.4, +BMGC_DS03737,BMG_DS005322,Acute gastric ulcer with hemorrhage,UMLS ID:C0155967,Acute gastric ulcer with hemorrhage | Acute gastric ulcer with bleeding | Acute gastric ulcer with haemorrhage | Acute gastric ulcer with hemorrhage (disorder) | Bleeding acute gastric ulcer | Acute gastric ulcer with haemorrhage | Acute gastric ulcer with hemorrhage | Acute gastric ulcer with haemorrhage (disorder) | Acute gastric ulcer with haemorrhage | Bleeding acute gastric ulcer | Acute gastric ulcer with hemorrhage | Acute gastric ulcer with hemorrhage (disorder),SNOMEDCT ID:89748001 | SNOMEDCT ID:155682002 | SNOMEDCT ID:196629007,"Gastric ulcer, unspecified",ICD11 ID:DA60.Z,,,,,,,ICD10 ID:K25.0, +BMGC_DS03738,BMG_DS005324,Acute gastric ulcer with perforation,UMLS ID:C0155970,Acute gastric ulcer with perforation | Acute gastric ulcer with perforation (disorder) | Perforated GU | GU - acute + perforation | Acute gastric ulcer with perforation | Perforated GU (& [acute]) | Perforated GU (& [acute]) (disorder),SNOMEDCT ID:19850005 | SNOMEDCT ID:266499002 | SNOMEDCT ID:196630002,"Gastric ulcer, unspecified",ICD11 ID:DA60.Z,,,,,,,ICD10 ID:K25.1, +BMGC_DS03739,BMG_DS005334,Acute gastrojejunal ulcer with hemorrhage,UMLS ID:C0156042,Acute gastrojejunal ulcer with hemorrhage | Acute gastrojejunal ulcer with haemorrhage | Acute gastrojejunal ulcer with hemorrhage (disorder) | Acute gastrojejunal ulcer with hemorrhage | Acute gastrojejunal ulcer with haemorrhage | Acute gastrojejunal ulcer with hemorrhage (disorder) | Acute stomal ulcer with haemorrhage | Acute stomal ulcer with hemorrhage,SNOMEDCT ID:196709002 | SNOMEDCT ID:63954007,"Anastomotic ulcer, unspecified",ICD11 ID:DA62.Z,,,,,gastrojejunal ulcer,DOID:10927,ICD10 ID:K28.0, +BMGC_DS03740,BMG_DS005340,Alcoholic gastritis,UMLS ID:C0156076,Alcoholic gastritis | Alcoholic gastritis (disorder),SNOMEDCT ID:155714000 | SNOMEDCT ID:2043009,Alcoholic gastritis,ICD11 ID:DA42.80,alcoholic gastritis,MONDO:0004640,,,alcoholic gastritis,DOID:8680,ICD10 ID:K29.2, +BMGC_DS03741,BMG_DS005343,Chronic duodenal ileus,UMLS ID:C0156087,Chronic duodenal ileus | Chronic duodenal ileus (disorder),SNOMEDCT ID:52232007,,,chronic duodenal ileus,MONDO:0001775,,,chronic duodenal ileus,DOID:13687,, +BMGC_DS03742,BMG_DS005356,Crohn's disease of small intestine,UMLS ID:C0156146,"Crohn's disease of small intestine | Regional enteritis of small intestine | Regional ileitis of small intestine | Segmental ileitis of small intestine | Crohn's disease of small intestine (disorder) | Crohn disease of small intestine | Crohns disease, small intestine | Granulomatous enteritis | Regional enteritis | RE - regional enteritis | Crohn's regional enteritis",SNOMEDCT ID:56689002,Crohn disease of small intestine,ICD11 ID:DD70.1,small bowel Crohn disease,MONDO:0005539,,,gastroduodenal Crohn's disease | jejunoileitis,DOID:0060191;DOID:0060188,ICD10 ID:K50.0, +BMGC_DS03743,BMG_DS005357,Crohn's disease of large bowel,UMLS ID:C0156147,"Crohn's disease of large bowel | Crohn's disease of large bowel (disorder) | Regional enteritis of the large bowel | Crohn disease of large bowel | Crohns disease, large intestine",SNOMEDCT ID:7620006,,,Crohn's colitis,MONDO:0005532,,,Crohn's colitis | Crohn's disease,DOID:8778;DOID:0060192,, +BMGC_DS03744,BMG_DS005362,Functional diarrhea,UMLS ID:C0156173,Functional diarrhea | Functional diarrhoea | Functional diarrhea (disorder),SNOMEDCT ID:47812002,"Functional gastrointestinal disorders, unspecified",ICD11 ID:DD9Z,functional diarrhea,MONDO:0001272,,,functional diarrhea,DOID:11371,ICD10 ID:K59.1, +BMGC_DS03745,BMG_DS005365,,UMLS ID:C0156183,,,,,anorectal stricture,MONDO:0001177,,,anorectal stricture,DOID:11014,, +BMGC_DS03746,BMG_DS005366,Abscess of intestine,UMLS ID:C0156185,Abscess of intestine | Abscess of intestine (disorder),SNOMEDCT ID:197237004 | SNOMEDCT ID:24557004,Digestive system abscess,ICD11 ID:ME24.0,,,,,,,ICD10 ID:K63.0, +BMGC_DS03747,BMG_DS005370,Chronic passive congestion of liver,UMLS ID:C0156195,Chronic passive congestion of liver | Nutmeg liver | Chronic passive congestion of liver (disorder),SNOMEDCT ID:34736002,Passive congestion of liver | Chronic,ICD11 ID:DB98.8 | ICD11 ID:XT8W,nutmeg liver,MONDO:0001788,,,nutmeg liver,DOID:13739,ICD10 ID:K76.1, +BMGC_DS03748,BMG_DS005377,Obstruction of gallbladder,UMLS ID:C0156214,Obstruction of gallbladder | Obstruction of gallbladder (disorder),SNOMEDCT ID:197415009 | SNOMEDCT ID:75726005,Obstruction of gall bladder,ICD11 ID:DC10.01,occlusion of gallbladder,MONDO:0004858,,,occlusion of gallbladder,DOID:9714,ICD10 ID:K82.0, +BMGC_DS03749,BMG_DS005378,Other diseases of biliary tract,UMLS ID:C0156217,,,,,,,,,,,ICD10 ID:K83, +BMGC_DS03750,BMG_DS005379,,UMLS ID:C0156218,,,,,perforation of bile duct,MONDO:0001710,,,perforation of bile duct,DOID:13409,, +BMGC_DS03751,BMG_DS005383,Pyeloureteritis cystica,UMLS ID:C0156254,(Pyeloureteritis cystica) or (ureteritis cystica) or (infestation of renal pelvis with ureter) | Ureteritis cystica | Pyeloureteritis cystica | Infestation of renal pelvis with ureter | (Pyeloureteritis cystica) or (ureteritis cystica) or (infestation of renal pelvis with ureter) (disorder) | Pyeloureteritis cystica | Pyeloureteritis cystica (disorder) | Pyeloureteritis cystica | Ureteritis cystica | Pyelitis cystica | Pyeloureteritis cystica (disorder),SNOMEDCT ID:197776002 | SNOMEDCT ID:155864003 | SNOMEDCT ID:266555009 | SNOMEDCT ID:37779008,,,pyeloureteritis cystica,MONDO:0002410,,,pyeloureteritis cystica,DOID:2743,ICD10 ID:N28.85, +BMGC_DS03752,BMG_DS005384,Calculus of kidney and ureter,UMLS ID:C0156257,Kidney calculus | Urinary calculus | Calculus of kidney and ureter | Urinary calculus (& [kidney &/or ureter) | Urinary calculus (& [kidney &/or ureter) (disorder) | Calculus of kidney and ureter | Calculus of kidney and ureter (disorder) | Calculus kidney/ureter | Kidney/ureter calculus | Urinary calculus | Calculus of kidney and ureter | Stone - kidney/ureter | Kidney stone | Renal stone | Urinary calculus (& [kidney &/or ureter]) | Urinary calculus (& [kidney &/or ureter]) (disorder) | Urinary calculus (& [kidney &/or ureter]) | Calculus of kidney and ureter | Urinary calculus | Kidney stone | Renal stone | Kidney/ureter calculus | Calculus kidney/ureter | Stone - kidney/ureter | Urinary calculus (& [kidney &/or ureter]) (disorder) | Calculus of kidney with calculus of ureter | Calculus of kidney and ureter | Calculus of kidney and ureter (disorder),SNOMEDCT ID:197792007 | SNOMEDCT ID:197796005 | SNOMEDCT ID:266622009 | SNOMEDCT ID:155867005 | SNOMEDCT ID:266556005,,,,,,,nephrolithiasis,DOID:585,ICD10 ID:N20, +BMGC_DS03753,BMG_DS005386,Hypertrophy of kidney,UMLS ID:C0156259,Hypertrophy of kidney | Hypertrophy of kidney (disorder),SNOMEDCT ID:197800004 | SNOMEDCT ID:88531004,,,kidney hypertrophy,MONDO:0004841,,,kidney hypertrophy,DOID:9622,ICD10 ID:N28.81, +BMGC_DS03754,BMG_DS005387,,UMLS ID:C0156261,,,,,,,,,stricture or kinking of ureter,DOID:3508,, +BMGC_DS03755,BMG_DS005388,Calculus of lower urinary tract,UMLS ID:C0156264,Calculus of lower urinary tract | Calculus of lower urinary tract (disorder) | Lower urinary tract calculus,SNOMEDCT ID:79509009,,,lower urinary tract calculus,MONDO:0004828,,,lower urinary tract calculus,DOID:9590,ICD10 ID:N21, +BMGC_DS03756,BMG_DS005389,Calculus in diverticulum of urinary bladder,UMLS ID:C0156265,Calculus in diverticulum of bladder | Calculus of bladder diverticulum | Stone in bladder diverticulum | Diverticulum of bladder with calculus | Calculus in diverticulum of urinary bladder (disorder) | Calculus in diverticulum of urinary bladder,SNOMEDCT ID:18109005,,,stone in bladder diverticulum,MONDO:0001270,,,stone in bladder diverticulum,DOID:11354,, +BMGC_DS03757,BMG_DS005391,Other chronic cystitis,UMLS ID:C0156268,Other chronic cystitis | Other chronic cystitis (disorder),SNOMEDCT ID:197839008,Infectious cystitis | Chronic,ICD11 ID:GC00.1 | ICD11 ID:XT8W,,,,,chronic cystitis,DOID:1680,ICD10 ID:N30.2, +BMGC_DS03758,BMG_DS005392,Radiation cystitis,UMLS ID:C0156270,Irradiation cystitis | Radiation cystitis | Cystitis caused by radiation | Cystitis caused by radiation (disorder),SNOMEDCT ID:11251000,,,radiation cystitis,MONDO:0004112,,,radiation cystitis,DOID:7127,, +BMGC_DS03759,BMG_DS005393,Other disorders of bladder,UMLS ID:C0156271,Other disorders of bladder | Other disorders of bladder (disorder),SNOMEDCT ID:197858004,,,,,,,,,ICD10 ID:N32, +BMGC_DS03760,BMG_DS005394,,UMLS ID:C0156273,,,,,bladder diverticulum,MONDO:0007197,,,bladder diverticulum,DOID:11353,,OMIM ID:109820 +BMGC_DS03761,BMG_DS005395,Urethral abscess,UMLS ID:C0156278,Urethral abscess | Urethral and periurethral abscess | Periurethral &/or urethral abscess | Periurethral &/or urethral abscess (disorder) | Urethral abscess | Urethral abscess (disorder),SNOMEDCT ID:197899005 | SNOMEDCT ID:67277002,Urethral abscess,ICD11 ID:GC02.0,,,,,urethral gland abscess,DOID:9877,ICD10 ID:N34.0, +BMGC_DS03762,BMG_DS005396,Urethral syndrome,UMLS ID:C0156279,Urethral syndrome | Urethral syndrome (disorder),SNOMEDCT ID:31273004,,,urethral syndrome,MONDO:0001730,,,urethral syndrome,DOID:13498,, +BMGC_DS03763,BMG_DS005397,,UMLS ID:C0156282,,,,,,,,,infective urethral stricture,DOID:13658,, +BMGC_DS03764,BMG_DS005398,,UMLS ID:C0156286,,,,,urethral false passage,MONDO:0004760,,,urethral false passage,DOID:9339,, +BMGC_DS03765,BMG_DS005401,Prostatocystitis,UMLS ID:C0156291,Prostatocystitis | Prostatocystitis (disorder),SNOMEDCT ID:67685000,Prostatocystitis,ICD11 ID:GA91.2,prostatocystitis,MONDO:0001506,,,prostatocystitis,DOID:12355,ICD10 ID:N41.3, +BMGC_DS03766,BMG_DS005404,Atrophy of prostate,UMLS ID:C0156296,Atrophy of prostate | Atrophy of prostate (disorder) | Atrophic prostate | Prostate atrophy,SNOMEDCT ID:29524003,,,,,,,atrophy of prostate,DOID:2301,, +BMGC_DS03767,BMG_DS005409,Atrophy of testis,UMLS ID:C0156312,Atrophy of testis | Testicular atrophy | Atrophic testicle | Atrophy of testis (disorder) | Atrophy of testis | Atrophy of testis (disorder),SNOMEDCT ID:17585008 | SNOMEDCT ID:155938008 | SNOMEDCT ID:249242001,Atrophy of testis,ICD11 ID:GB03,atrophy of testis,MONDO:0001415,,,atrophy of testis,DOID:11994,ICD10 ID:N50.0, +BMGC_DS03768,BMG_DS005411,Chylocele of tunica vaginalis,UMLS ID:C0156315,Chylocele | Chylocele (disorder) | Scrotal chylocele | Chylocele of tunica vaginalis | Chylocoele of tunica vaginalis | Chylocele of tunica vaginalis | Chylocele of tunica vaginalis (disorder) | Chylocoele of tunica vaginalis,SNOMEDCT ID:234107009 | SNOMEDCT ID:7864001,,,chylocele of tunica vaginalis,MONDO:0001136,,,chylocele of tunica vaginalis,DOID:10835,, +BMGC_DS03769,BMG_DS005412,,UMLS ID:C0156316,,,,,male genital organ stricture,MONDO:0001496,,,male genital organ stricture,DOID:12333,, +BMGC_DS03770,BMG_DS005413,Fibrosclerosis of breast,UMLS ID:C0156318,Fibrosclerosis of breast | Fibrosclerosis of breast (disorder),SNOMEDCT ID:29070004,Fibrocystic change of breast,ICD11 ID:GB20.0,breast fibrosis,MONDO:0006118,,,fibrosclerosis of breast,DOID:10353,ICD10 ID:N60.3, +BMGC_DS03771,BMG_DS005416,Fat necrosis of breast,UMLS ID:C0156321,Fat necrosis of breast | Fat necrosis of breast (disorder),SNOMEDCT ID:21381006,Fat necrosis of breast,ICD11 ID:GB23.2,fat necrosis of breast,MONDO:0001101,,,fat necrosis of breast,DOID:10691,ICD10 ID:N64.1, +BMGC_DS03772,BMG_DS005418,Acute salpingo-oophoritis,UMLS ID:C0156327,Acute salpingo-oophoritis | Acute salpingo-oophoritis (disorder) | Acute salpingo-oophoritis | Acute salpingitis and oophoritis | Acute salpingo-oophoritis (disorder),SNOMEDCT ID:155969007 | SNOMEDCT ID:198134002 | SNOMEDCT ID:266581008,,,acute salpingo-oophoritis,MONDO:0001171,,,acute salpingo-oophoritis,DOID:10971,, +BMGC_DS03773,BMG_DS005419,Chronic salpingo-oophoritis,UMLS ID:C0156328,Chronic salpingo-oophoritis | Chronic salpingo-oophoritis (disorder) | Chronic salpingitis and oophoritis,SNOMEDCT ID:198142001,,,chronic salpingo-oophoritis,MONDO:0001474,,,chronic salpingo-oophoritis,DOID:12265,, +BMGC_DS03774,BMG_DS005424,Ulceration of vulva associated with another disorder,UMLS ID:C0156340,Ulceration of vulva associated with another disorder (disorder) | Ulceration of vulva associated with another disorder,SNOMEDCT ID:198230004,,,,,,,ulceration of vulva,DOID:12566,, +BMGC_DS03775,BMG_DS005425,Endometriosis of ovary,UMLS ID:C0156344,Endometriosis of ovary (& [chocolate cyst]) | Chocolate cyst of ovary | Endometriosis of ovary | Endometriosis of ovary (& [chocolate cyst]) (disorder) | Endometriosis of ovary | Endometriosis of ovary (disorder),SNOMEDCT ID:198250000 | SNOMEDCT ID:31007005 | SNOMEDCT ID:266589005,Endometriosis of unspecified site,ICD11 ID:GA10.Z,ovarian endometriosis,MONDO:0006337,,,endometriosis of ovary,DOID:11432,ICD10 ID:N80.1, +BMGC_DS03776,BMG_DS005426,Endometriosis of pelvic peritoneum,UMLS ID:C0156345,Endometriosis of pelvic peritoneum | Endometriosis of pelvic peritoneum (disorder),SNOMEDCT ID:198251001,Endometriosis of pelvic peritoneum,ICD11 ID:GA10.C2,endometriosis of pelvic peritoneum,MONDO:0001285,,,endometriosis of pelvic peritoneum,DOID:11429,ICD10 ID:N80.3, +BMGC_DS03777,BMG_DS005427,Endometriosis of rectovaginal septum and vagina,UMLS ID:C0156346,Endometriosis of rectovaginal septum and vagina | Endometriosis of rectovaginal septum and vagina (disorder),SNOMEDCT ID:198253003,Deep ovarian endometriosis,ICD11 ID:GA10.B5,endometriosis of rectovaginal septum and vagina,MONDO:0001288,,,endometriosis of rectovaginal septum and vagina,DOID:11431,ICD10 ID:N80.4, +BMGC_DS03778,BMG_DS005428,Endometriosis of intestine,UMLS ID:C0156347,Endometriosis of intestine | Endometriosis of intestine (disorder),SNOMEDCT ID:5562006,Endometriosis of intestine,ICD11 ID:GA10.C1,endometriosis of intestine,MONDO:0001284,,,endometriosis of intestine,DOID:11428,ICD10 ID:N80.5, +BMGC_DS03779,BMG_DS005429,Endometriosis in scar of skin,UMLS ID:C0156348,Endometriosis in scar of skin | Endometriosis in scar of skin (disorder) | Scar endometriosis,SNOMEDCT ID:53913001,,,endometriosis in cutaneous scar,MONDO:0001287,,,endometriosis in scar of skin,DOID:11430,, +BMGC_DS03780,BMG_DS005431,,UMLS ID:C0156361,,,,,,,,,corpus luteum cyst,DOID:13050,, +BMGC_DS03781,BMG_DS005434,,UMLS ID:C0156369,,,,,uterine polyp,MONDO:0004701,,,polyp of corpus uteri,DOID:9042,, +BMGC_DS03782,BMG_DS005435,Chronic subinvolution of uterus,UMLS ID:C0156370,Chronic subinvolution of uterus | Chronic subinvolution of uterus (disorder),SNOMEDCT ID:53518003 | SNOMEDCT ID:198315005,,,chronic subinvolution of uterus,MONDO:0001808,,,chronic subinvolution of uterus,DOID:13811,, +BMGC_DS03783,BMG_DS005440,,UMLS ID:C0156385,,,,,leukoplakia of vagina,MONDO:0004679,,,leukoplakia of vagina,DOID:8920,, +BMGC_DS03784,BMG_DS005442,Atrophy of vulva,UMLS ID:C0156393,Atrophy of vulva | Atrophy of vulva (disorder) | Atrophic vulva | Atrophic vulvitis | Atrophic vulva (disorder) | Atrophy of vulva,SNOMEDCT ID:82614005 | SNOMEDCT ID:198382004 | SNOMEDCT ID:248861000,"Noninflammatory disorders of female genital tract, unspecified",ICD11 ID:GA1Z,,,,,atrophic vulva,DOID:14275,ICD10 ID:N90.5, +BMGC_DS03785,BMG_DS005447,Postmenopausal atrophic vaginitis,UMLS ID:C0156409,Senile atrophic vaginitis | Postmenopausal atrophic vaginitis | Atrophic vaginitis | Senile vaginitis | Atrophic vaginitis (disorder) | Postmenopausal atrophic vaginitis | Postmenopausal atrophic vaginitis (disorder),SNOMEDCT ID:52441000 | SNOMEDCT ID:156054004,Postmenopausal atrophic vaginitis,ICD11 ID:GA30.2,postmenopausal atrophic vaginitis,MONDO:0001410,,,postmenopausal atrophic vaginitis,DOID:11968,ICD10 ID:N95.2, +BMGC_DS03786,BMG_DS005450,,UMLS ID:C0156416,,,,,female infertility of uterine origin,MONDO:0001753,,,female infertility of uterine origin,DOID:13589,, +BMGC_DS03787,BMG_DS005457,,UMLS ID:C0156543,,,,,pregnancy disorder with abortive outcome,MONDO:0041526,,,,,, +BMGC_DS03788,BMG_DS005460,,UMLS ID:C0156617,,,,,low implantation of placenta,MONDO:0002077,,,low implantation of placenta,DOID:1677,, +BMGC_DS03789,BMG_DS005461,,UMLS ID:C0156664,,,,,,,,,mild pre-eclampsia,DOID:10590,, +BMGC_DS03790,BMG_DS005462,,UMLS ID:C0156669,,,,,,,,,severe pre-eclampsia,DOID:13129,, +BMGC_DS03791,BMG_DS005469,,UMLS ID:C0157456,,,,,,,,,supine hypotensive syndrome,DOID:10556,, +BMGC_DS03792,BMG_DS005471,,UMLS ID:C0157540,,,,,puerperal pulmonary embolism,MONDO:0004594,,,puerperal pulmonary embolism,DOID:8512,, +BMGC_DS03793,BMG_DS005487,Acute lymphadenitis,UMLS ID:C0157705,Acute adenitis | Acute lymphadenitis | Acute lymphadenitis (disorder) | Acute lymphadenitis | Acute lymphadenitis (disorder) | Acute cervical adenitis | Acute adenitis | Acute lymphadenitis | Acute abscess lymph node | Acute: [lymphadenitis] or [abscess lymph node] or [cervical adenitis] | Acute: [lymphadenitis] or [abscess lymph node] or [cervical adenitis] (disorder),SNOMEDCT ID:41174002 | SNOMEDCT ID:156318008 | SNOMEDCT ID:200696002,,,,,,,lymphadenitis,DOID:1602,ICD10 ID:L04, +BMGC_DS03794,BMG_DS005491,Benign mucous membrane pemphigoid with ocular involvement,UMLS ID:C0157721,Benign mucous membrane pemphigoid with ocular involvement | Benign mucous membrane pemphigoid with ocular involvement (disorder),SNOMEDCT ID:76092003,,,,,,,cicatricial pemphigoid,DOID:11656,, +BMGC_DS03795,BMG_DS005494,Chronic skin ulcer,UMLS ID:C0157738,Chronic skin ulcer | Chronic skin ulcer (disorder) | Chronic ulcer of skin | Chronic skin ulcer | Chronic ulcer of skin (disorder),SNOMEDCT ID:156423009 | SNOMEDCT ID:19429009,,,chronic ulcer of skin,MONDO:0004605,,,chronic ulcer of skin,DOID:8549,, +BMGC_DS03796,BMG_DS005496,Vibratory Urticaria,UMLS ID:C0157743,,,,,vibratory urticaria,MONDO:0006618,Chronic Inducible Urticaria,MeSH ID:D000094482,vibratory urticaria,DOID:1554,, +BMGC_DS03797,BMG_DS005497,Arthropathy associated with infection,UMLS ID:C0157749,Arthropathy associated with infection (disorder) | Arthropathy associated with infection | Infectious arthropathy | Arthropathy related to infection | Arthropathy associated with infection | Infection-associated arthritis | Infectious arthropathy | Arthropathy related to infection | Arthropathy associated with infection (disorder) | Arthropathy associated with infection | Infection-associated arthritis | Arthropathy related to infection | Arthropathy related to infection (disorder) | Arthropathy associated with infection (disorder) | Arthropathy associated with infection | Arthropathy related to infection | Infection-associated arthritis,SNOMEDCT ID:396233005 | SNOMEDCT ID:48548006 | SNOMEDCT ID:201455003 | SNOMEDCT ID:371412008,,,,,,,arthropathy,DOID:381,, +BMGC_DS03798,BMG_DS005498,Arthropathy in Behcet's syndrome,UMLS ID:C0157770,Arthropathy in Behcet's syndrome | Behcet's syndrome arthropathy | Seronegative arthritis secondary to Behcet's syndrome | Arthropathy in Behcet's syndrome (disorder) | Arthropathy in Behcet syndrome,SNOMEDCT ID:62918002,,,Behcet syndrome arthropathy,MONDO:0002074,,,Behcet's syndrome arthropathy,DOID:1670,, +BMGC_DS03799,BMG_DS005500,Infective arthritis of shoulder region,UMLS ID:C0157843,Infective arthritis of shoulder region (disorder) | Infective arthritis of shoulder region,SNOMEDCT ID:428437005,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03800,BMG_DS005501,,UMLS ID:C0157844,,,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03801,BMG_DS005502,,UMLS ID:C0157845,,,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03802,BMG_DS005503,,UMLS ID:C0157846,,,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03803,BMG_DS005504,,UMLS ID:C0157847,,,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03804,BMG_DS005505,,UMLS ID:C0157848,,,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03805,BMG_DS005506,,UMLS ID:C0157849,,,,,,,,,septic arthritis,DOID:813,, +BMGC_DS03806,BMG_DS005507,Chondrocalcinosis due to dicalcium phosphate crystals,UMLS ID:C0157852,Chondrocalcinosis caused by dicalcium phosphate crystals | Chondrocalcinosis caused by dicalcium phosphate crystals (disorder),SNOMEDCT ID:201625003,,,,,,,chondrocalcinosis,DOID:1156,, +BMGC_DS03807,BMG_DS005510,Acute polyarticular juvenile rheumatoid arthritis,UMLS ID:C0157916,Acute polyarticular juvenile rheumatoid arthritis | Acute juvenile rheumatoid arthritis | Acute polyarticular juvenile rheumatoid arthritis (disorder) | Polyarticular juvenile rheumatoid arthritis | Acute polyarticular juvenile rheumatoid arthritis | Acute polyarticular juvenile rheumatoid arthritis (disorder) | Acute polyarticular juvenile idiopathic arthritis (disorder) | Acute polyarticular juvenile idiopathic arthritis | Acute polyarticular juvenile rheumatoid arthritis,SNOMEDCT ID:75822003 | SNOMEDCT ID:201798003 | SNOMEDCT ID:16024431000119108,,,,,,,juvenile rheumatoid arthritis,DOID:676,, +BMGC_DS03808,BMG_DS005511,Pauciarticular juvenile rheumatoid arthritis,UMLS ID:C0157917,Pauciarticular juvenile rheumatoid arthritis | JCA - Pauciarticular onset juvenile chronic arthritis | Pauciarticular onset juvenile arthritis | Pauciarticular onset juvenile chronic arthritis | Pauciarticular juvenile rheumatoid arthritis (disorder),SNOMEDCT ID:74391003,Juvenile idiopathic polyarthritis,ICD11 ID:FA24.1,,,,,juvenile rheumatoid arthritis,DOID:676,ICD10 ID:M08.4, +BMGC_DS03809,BMG_DS005512,Monoarticular juvenile rheumatoid arthritis,UMLS ID:C0157918,Monarticular juvenile rheumatoid arthritis | Monarticular juvenile rheumatoid arthritis (disorder) | Monoarticular juvenile rheumatoid arthritis | Monoarticular juvenile rheumatoid arthritis | Monoarticular juvenile rheumatoid arthritis (disorder),SNOMEDCT ID:201799006 | SNOMEDCT ID:83793004,,,,,,,juvenile rheumatoid arthritis,DOID:676,, +BMGC_DS03810,BMG_DS005515,,UMLS ID:C0157946,,,,,,,,,osteoarthritis,DOID:8398,, +BMGC_DS03811,BMG_DS005521,Transient arthropathy of the shoulder region,UMLS ID:C0158007,Transient arthropathy of shoulder region | Transient arthropathy of shoulder region (disorder),SNOMEDCT ID:201988000,,,,,,,transient arthropathy,DOID:12084,, +BMGC_DS03812,BMG_DS005524,Articular cartilage disorder,UMLS ID:C0158073,Articular cartilage disorder | Cartilage disorder | Cartilage disorder (& [articular]) | Cartilage disorder (& [articular]) (disorder) | Articular cartilage disorder | Articular cartilage disorder (disorder) | Articular cartilage disorder | Articular cartilage disease | Articular cartilage disorder (disorder) | Disorder of articular cartilage,SNOMEDCT ID:268062001 | SNOMEDCT ID:287014004 | SNOMEDCT ID:53417006,,,articular cartilage disorder,MONDO:0003816,,,articular cartilage disease,DOID:6227,, +BMGC_DS03813,BMG_DS005529,,UMLS ID:C0158157,,,,,,,,,hydrarthrosis,DOID:528,, +BMGC_DS03814,BMG_DS005532,Villonodular synovitis,UMLS ID:C0158168,Villonodular synovitis | Villonodular synovitis (disorder),SNOMEDCT ID:34671005 | SNOMEDCT ID:95411002,,,,,,,villonodular synovitis,DOID:9898,, +BMGC_DS03815,BMG_DS005533,,UMLS ID:C0158178,,,,,,,,,palindromic rheumatism,DOID:1166,, +BMGC_DS03816,BMG_DS005546,Kissing spine,UMLS ID:C0158248,Localised idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) | Localized idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) | Kissing spine | Baastrup's syndrome | Localised idiopathic skeletal hyperostosis (& [kissing spine] or [Baastrup's syndrome]) (disorder) | Kissing spine | Baastrup's syndrome | Overriding of dorsal spinous processes | Osteoarthrosis interspinalis | Localized idiopathic skeletal hyperostosis | Localised idiopathic skeletal hyperostosis | Kissing spine (disorder),SNOMEDCT ID:202681007 | SNOMEDCT ID:82304009,Kissing spine,ICD11 ID:FA72.1,Baastrup syndrome,MONDO:0003956,,,Baastrup's syndrome,DOID:6643,ICD10 ID:M48.2, +BMGC_DS03817,BMG_DS005547,Intervertebral disc disorder,UMLS ID:C0158252,Intervertebral disc disorder | Intervertebral disc disorder (disorder) | Disorder of intervertebral disc,SNOMEDCT ID:36427004,,,lumbar disk degenerative disorder,MONDO:0044339,,,,,, +BMGC_DS03818,BMG_DS005554,Intervertebral Disc Degeneration,UMLS ID:C0158266,,,,,intervertebral disk degenerative disorder,MONDO:0011385,Intervertebral Disc Degeneration,MeSH ID:D055959,,,,OMIM ID:603932 +BMGC_DS03819,BMG_DS005568,Hypermobility of the coccyx,UMLS ID:C0158295,Hypermobility of the coccyx | Hypermobility of coccyx | Hypermobility of coccyx (finding),SNOMEDCT ID:202809009,,,hypermobility of coccyx,MONDO:0001546,,,hypermobility of coccyx,DOID:12537,, +BMGC_DS03820,BMG_DS005571,Adhesive Capsulitis,UMLS ID:C0158300,,,,,,,Bursitis,MeSH ID:D002062,,,, +BMGC_DS03821,BMG_DS005572,Calcific tendinitis of shoulder,UMLS ID:C0158303,Calcifying tendinitis of shoulder | Calcific tendinitis of shoulder | Calcifying tendinitis of the shoulder | Calcific tendinitis of shoulder (disorder) | Calcific tendonitis of shoulder | Calcific tendinitis of shoulder | Calcific tendinitis of shoulder (disorder),SNOMEDCT ID:27741009 | SNOMEDCT ID:239957000,Calcific tendinitis,ICD11 ID:FB40.3,,,,,calcific tendinitis,DOID:14181,ICD10 ID:M75.3, +BMGC_DS03822,BMG_DS005573,Bicipital tenosynovitis,UMLS ID:C0158304,Bicipital tenosynovitis | Bicipital tenosynovitis (disorder),SNOMEDCT ID:41137001 | SNOMEDCT ID:202840002,,,bicipital tenosynovitis,MONDO:0001905,,,bicipital tenosynovitis,DOID:14192,, +BMGC_DS03823,BMG_DS005577,,UMLS ID:C0158314,,,,,,,,,pes anserinus tendinitis or bursitis,DOID:12475,, +BMGC_DS03824,BMG_DS005578,Tibial collateral ligament bursitis,UMLS ID:C0158315,(Tibial collateral ligament bursitis) or (Pellegrini-Stieda syndrome) | Pellegrini - Stieda syndrome | Tibial collateral ligament bursitis | (Tibial collateral ligament bursitis) or (Pellegrini-Stieda syndrome) (disorder) | Tibial collateral ligament bursitis | Tibial collateral ligament bursitis (disorder),SNOMEDCT ID:202869006 | SNOMEDCT ID:44245003,,,tibial collateral ligament bursitis,MONDO:0001747,,,tibial collateral ligament bursitis,DOID:13566,, +BMGC_DS03825,BMG_DS005579,Inflammation of subtendinous bursa of biceps femoris inferior muscle,UMLS ID:C0158316,Fibular collateral ligament bursitis | Inflammation of subtendinous bursa of biceps femoris inferior muscle (disorder) | Inflammation of subtendinous bursa of biceps femoris inferior muscle,SNOMEDCT ID:77323000,,,fibular collateral ligament bursitis,MONDO:0004764,,,fibular collateral ligament bursitis,DOID:9358,, +BMGC_DS03826,BMG_DS005580,Patellar tendonitis,UMLS ID:C0158317,(Patellar tendinitis) or (Pellegrini-Stieda syndrome) | Patellar tendonitis | Pellegrini-Stieda syndrome | Patellar tendinitis | Pellegrini - Stieda syndrome | (Patellar tendinitis) or (Pellegrini-Stieda syndrome) (disorder) | Pellegrini - Stieda syndrome | Patellar tendonitis | Patellar tendinitis | Pellegrini-Stieda syndrome | (Patellar tendinitis) or (Pellegrini-Stieda syndrome) | (Patellar tendinitis) or (Pellegrini-Stieda syndrome) (disorder) | Patellar tendonitis | Tendinitis of patellar tendon (disorder) | Tendinitis of patellar tendon,SNOMEDCT ID:156662006 | SNOMEDCT ID:268089006 | SNOMEDCT ID:37785001,,,patellar tendinitis,MONDO:0001042,,,patellar tendinitis,DOID:10471,, +BMGC_DS03827,BMG_DS005582,Tibialis tendinitis,UMLS ID:C0158321,Tibialis tendinitis | Tibialis tendinitis (disorder) | Tibialis tendonitis,SNOMEDCT ID:50127006,,,tibialis tendinitis,MONDO:0001127,,,tibialis tendinitis,DOID:10810,, +BMGC_DS03828,BMG_DS005583,Heel Spur,UMLS ID:C0158322,,,,,heel spur,MONDO:0002209,Heel Spur,MeSH ID:D036982,heel spur,DOID:210,, +BMGC_DS03829,BMG_DS005588,,UMLS ID:C0158331,,,,,tenosynovitis of foot and ankle,MONDO:0002517,,,tenosynovitis of foot and ankle,DOID:312,, +BMGC_DS03830,BMG_DS005589,Specific bursitis often of occupational origin,UMLS ID:C0158332,Specific bursitis often of occupational origin | Specific bursitis often of occupational origin (disorder),SNOMEDCT ID:42812006,,,,,,,specific bursitis often of occupational origin,DOID:12223,, +BMGC_DS03831,BMG_DS005591,,UMLS ID:C0158336,,,,,,,,,ganglion or cyst of synovium/tendon/bursa,DOID:9754,, +BMGC_DS03832,BMG_DS005595,Infectious Myositis,UMLS ID:C0158353,,,,,infectious myositis,MONDO:0023483,Myositis,MeSH ID:D009220,,,, +BMGC_DS03833,BMG_DS005596,,UMLS ID:C0158360,,,,,plantar fibromatosis,MONDO:0004684,,,plantar fascial fibromatosis,DOID:8936,, +BMGC_DS03834,BMG_DS005597,Interstitial myositis,UMLS ID:C0158362,Interstitial myositis | Myositis fibrosa | Interstitial myositis (disorder),SNOMEDCT ID:55925001,"Disorders of muscles, unspecified",ICD11 ID:FB3Z,myositis fibrosa,MONDO:0004881,,,myositis fibrosa,DOID:9788,ICD10 ID:M60.1, +BMGC_DS03835,BMG_DS005599,Acute osteomyelitis,UMLS ID:C0158371,Acute osteomyelitis | Acute bone infection | Bone abscess | Acute osteomyelitis (disorder) | (Bone: [abscess] or [acute infection]) or (acute osteomyelitis) | Bone abscess | Acute bone infection | Acute osteomyelitis | (Bone: [abscess] or [acute infection]) or (acute osteomyelitis) (disorder) | Acute osteomyelitis | Acute osteomyelitis (disorder) | Acute osteomyelitis (disorder) | Acute osteomyelitis,SNOMEDCT ID:68231009 | SNOMEDCT ID:203146003 | SNOMEDCT ID:156781009 | SNOMEDCT ID:409780002,,,,,,,,,, +BMGC_DS03836,BMG_DS005605,Juvenile osteochondrosis of upper extremity,UMLS ID:C0158442,Juvenile osteochondrosis of upper extremity | Juvenile osteochondrosis of upper extremity (disorder) | Juvenile osteochondrosis of upper limb,SNOMEDCT ID:62100001,,,,,,,osteonecrosis,DOID:10159,, +BMGC_DS03837,BMG_DS005607,"Juvenile osteochondrosis of foot, NOS",UMLS ID:C0158444,Juvenile osteochondrosis of foot | Juvenile osteochondrosis of foot (disorder),SNOMEDCT ID:32491009,,,osteochondritis of tarsal/metatarsal bone,MONDO:0016086,,,Kohler's disease,DOID:11760,, +BMGC_DS03838,BMG_DS005608,Other juvenile osteochondrosis,UMLS ID:C0158445,,,,,,,,,osteochondrosis,DOID:8125,ICD10 ID:M92, +BMGC_DS03839,BMG_DS005609,Idiopathic osteoporosis,UMLS ID:C0158447,Idiopathic osteoporosis | Idiopathic osteoporosis (disorder),SNOMEDCT ID:3345002,,,,,,,idiopathic juvenile osteoporosis,DOID:12559,, +BMGC_DS03840,BMG_DS005610,,UMLS ID:C0158449,,,,,,,,,osteonecrosis,DOID:10159,, +BMGC_DS03841,BMG_DS005611,Osteonecrosis of medial femoral condyle,UMLS ID:C0158450,Avascular necrosis of medial femoral condyle (disorder) | Avascular necrosis of medial femoral condyle | Osteonecrosis of medial femoral condyle | Aseptic necrosis of medial femoral condyle,SNOMEDCT ID:268030004,,,,,,,osteonecrosis,DOID:10159,, +BMGC_DS03842,BMG_DS005612,,UMLS ID:C0158451,,,,,,,,,osteonecrosis,DOID:10159,, +BMGC_DS03843,BMG_DS005622,,UMLS ID:C0158538,,,,,,,,,congenital nervous system abnormality,DOID:2490,, +BMGC_DS03844,BMG_DS005623,,UMLS ID:C0158543,,,,,congenital cystic eye,MONDO:0022825,,,,,, +BMGC_DS03845,BMG_DS005626,,UMLS ID:C0158570,,,,,vascular malformation,MONDO:0024291,,,,,, +BMGC_DS03846,BMG_DS005631,Congenital insufficiency of mitral valve,UMLS ID:C0158619,Congenital insufficiency of mitral valve | Congenital mitral insufficiency | Congenital mitral regurgitation | Congenital insufficiency of mitral valve (disorder),SNOMEDCT ID:29928006,,,congenital mitral valve insufficiency,MONDO:0001298,,,mitral valve insufficiency,DOID:11502,, +BMGC_DS03847,BMG_DS005632,,UMLS ID:C0158623,,,,,congenital coronary artery anomaly,MONDO:0001389,,,coronary artery anomaly,DOID:11843,, +BMGC_DS03848,BMG_DS005634,,UMLS ID:C0158646,,,,,cleft lip/palate,MONDO:0016044,,,,,, +BMGC_DS03849,BMG_DS005635,,UMLS ID:C0158651,,,,,,,,,cleft lip,DOID:9296,, +BMGC_DS03850,BMG_DS005636,,UMLS ID:C0158667,,,,,aplasia of lacrimal and salivary glands,MONDO:0008397,,,aplasia of lacrimal and salivary glands,DOID:0111549,,OMIM ID:180920 +BMGC_DS03851,BMG_DS005637,,UMLS ID:C0158674,,,,,displacement of cardia through esophageal hiatus,MONDO:0001562,,,displacement of cardia through esophageal hiatus,DOID:12641,, +BMGC_DS03852,BMG_DS005638,Polycystic liver disease,UMLS ID:C0158683,Congenital cystic disease of liver | Congenital polycystic disease of liver | Fibrocystic disease of liver | Congenital hepatic cyst | PLD - Polycystic liver disease | Congenital polycystic liver disease | Fibrocystic liver disease | Polycystic liver disease | Cystic disease of liver | Congenital cystic disease of liver (disorder) | Congenital cystic liver,SNOMEDCT ID:72925005,,,autosomal dominant polycystic liver disease,MONDO:0000447,,MeSH ID:C536330,polycystic liver disease,DOID:0050770,,OMIM ID:MTHU014343 +BMGC_DS03853,BMG_DS005639,,UMLS ID:C0158761,,,,,congenital radioulnar synostosis,MONDO:0017985,,,radioulnar synostosis,DOID:9827,, +BMGC_DS03854,BMG_DS005641,,UMLS ID:C0158779,,,,,cervical rib disease,MONDO:0007303,,,,,,OMIM ID:117900 +BMGC_DS03855,BMG_DS005643,Fetal Malnutrition,UMLS ID:C0158850,,,,,,,Fetal Nutrition Disorders,MeSH ID:D048070,,,, +BMGC_DS03856,BMG_DS005652,Congenital Cytomegalovirus Infection,UMLS ID:C0158945,,,,,,,Cytomegalovirus Infections,MeSH ID:D003586,,,, +BMGC_DS03857,BMG_DS005653,Omphalitis of the newborn,UMLS ID:C0158947,Umbilical infection of newborn | Infection of navel cord | Omphalitis of newborn (disorder) | Omphalitis of newborn | Umbilical stump infection of newborn | Umbilical stump infection of the newborn (& [omphalitis]) | Omphalitis of the newborn | Umbilical stump infection of the newborn | Umbilical stump infection of the newborn (& [omphalitis]) (disorder),SNOMEDCT ID:42052009 | SNOMEDCT ID:206340009,,,,,,,,,, +BMGC_DS03858,BMG_DS005654,Neonatal infective mastitis,UMLS ID:C0158948,Neonatal infective mastitis | Neonatal infective mastitis (disorder),SNOMEDCT ID:3468005,Neonatal infectious mastitis,ICD11 ID:KA65.3,neonatal infective mastitis,MONDO:0001736,,,neonatal infective mastitis,DOID:13520,ICD10 ID:P39.0, +BMGC_DS03859,BMG_DS005655,Hemolytic disease of fetus OR newborn due to RhD isoimmunization,UMLS ID:C0158962,Rh hemolytic disease of the newborn | Rh isoimmunization of the newborn | Anemia due to Rh isoimmunization | Hemolytic disease due to Rh isoimmunization | Rhesus isoimmunization of the newborn | Erythroblastosis fetalis due to Rh isoimmunization | Jaundice due to Rh isoimmunization of the newborn | Hemolytic disease of fetus OR newborn due to Rh isoimmunization | Hemolytic disease - Rh | Hemolytic disease due to rhesus isoimmunization | Rh HDN - Rh hemolytic disease of the newborn | Rh isoimmunisation of the newborn | Haemolytic disease of fetus OR newborn due to Rh isoimmunisation | Haemolytic disease due to rhesus isoimmunisation | Rh haemolytic disease of the newborn | Rh HDN - Rh haemolytic disease of the newborn | Haemolytic disease - Rh | Rhesus isoimmunisation of the newborn | Erythroblastosis fetalis due to Rh isoimmunisation | Haemolytic disease due to Rh isoimmunisation | Jaundice due to Rh isoimmunisation of the newborn | Anaemia due to Rh isoimmunisation | Hemolytic disease of fetus OR newborn due to RhD isoimmunization (disorder) | Haemolytic disease of fetus OR newborn due to RhD isoimmunisation | Hemolytic disease of fetus OR newborn due to RhD isoimmunization | Haemolytic disease of foetus OR newborn due to RhD isoimmunisation | Haemolytic disease of foetus OR newborn due to Rh isoimmunisation | Erythroblastosis foetalis due to Rh isoimmunisation,SNOMEDCT ID:86986002,,,,,,,,,, +BMGC_DS03860,BMG_DS005657,Perinatal jaundice due to hepatocellular damage,UMLS ID:C0158976,Perinatal jaundice due to hepatocellular damage | Perinatal jaundice due to hepatocellular damage (finding),SNOMEDCT ID:10877007 | SNOMEDCT ID:206463003,,,perinatal jaundice due to hepatocellular damage,MONDO:0006595,,,perinatal jaundice due to hepatocellular damage,DOID:11452,, +BMGC_DS03861,BMG_DS005658,Neonatal diabetes mellitus,UMLS ID:C0158981,Neonatal diabetes mellitus | Neonatal diabetes mellitus (disorder),SNOMEDCT ID:49817004,"Neonatal diabetes mellitus, unspecified",ICD11 ID:KB60.2Z,neonatal diabetes mellitus,MONDO:0016391,,,neonatal diabetes | transient neonatal diabetes mellitus,DOID:11717;DOID:0060334,ICD10 ID:P70.2,OMIM ID:MTHU046151 +BMGC_DS03862,BMG_DS005659,Neonatal Myasthenia Gravis,UMLS ID:C0158982,,,,,neonatal myasthenia gravis,MONDO:0006866,"Myasthenia Gravis, Neonatal",MeSH ID:D020941,neonatal myasthenia gravis,DOID:14043,, +BMGC_DS03863,BMG_DS005660,Neonatal thyrotoxicosis,UMLS ID:C0158983,Neonatal thyrotoxicosis | Neonatal thyrotoxicosis (disorder),SNOMEDCT ID:13795004,Transitory neonatal hyperthyroidism,ICD11 ID:KB62.0,neonatal thyrotoxicosis,MONDO:0001555,,,neonatal thyrotoxicosis,DOID:12573,ICD10 ID:P72.1, +BMGC_DS03864,BMG_DS005662,Neonatal hypoglycemia,UMLS ID:C0158986,Neonatal hypoglycemia | Neonatal hypoglycaemia | Neonatal hypoglycemia (disorder) | Neonatal hypoglycaemia | Neonatal hypoglycemia | Neonatal hypoglycaemia (disorder),SNOMEDCT ID:52767006 | SNOMEDCT ID:157147000,,,,,,,,,,OMIM ID:MTHU037871 +BMGC_DS03865,BMG_DS005664,,UMLS ID:C0158991,,,,,transient neonatal thrombocytopenia,MONDO:0004877,,,transient neonatal thrombocytopenia,DOID:9771,, +BMGC_DS03866,BMG_DS005665,Disseminated intravascular coagulation in newborn,UMLS ID:C0158992,Disseminated intravascular coagulation in newborn | DIC in newborn | Disseminated intravascular coagulation in newborn (disorder) | Newborn defibrination syndrome | Newborn disseminated intravascular coagulation,SNOMEDCT ID:34417008,,,disseminated intravascular coagulation in newborn,MONDO:0001242,,,DIC in newborn,DOID:11246,, +BMGC_DS03867,BMG_DS005668,Anemia of prematurity,UMLS ID:C0158996,Anemia of prematurity | Anaemia of prematurity | Anemia of prematurity (disorder),SNOMEDCT ID:47100003,Anaemia of prematurity,ICD11 ID:KA8B,anemia of prematurity,MONDO:0001239,,,anemia of prematurity,DOID:11243,ICD10 ID:P61.2, +BMGC_DS03868,BMG_DS005669,Transient neonatal neutropenia (disorder),UMLS ID:C0158997,Transient neonatal neutropenia | Transient neonatal neutropenia (disorder),SNOMEDCT ID:55444004,,,transient neonatal neutropenia,MONDO:0001241,,,transient neonatal neutropenia,DOID:11245,, +BMGC_DS03869,BMG_DS005671,Perinatal intestinal perforation,UMLS ID:C0159006,Perinatal intestinal perforation | Perinatal intestinal perforation (disorder) | Perinatal intestinal perforation | Perinatal intestinal perforation (finding),SNOMEDCT ID:65390006 | SNOMEDCT ID:206526009,"Postnatal intestinal perforation, unspecified",ICD11 ID:KB86.Z,perinatal intestinal perforation,MONDO:0002196,,,perinatal intestinal perforation,DOID:2073,ICD10 ID:P78.0, +BMGC_DS03870,BMG_DS005675,Convulsions in the newborn,UMLS ID:C0159020,Neonatal seizure (finding) | Neonatal seizure,SNOMEDCT ID:87476004,,,,,,,,,, +BMGC_DS03871,BMG_DS005688,Conjunctival deposit,UMLS ID:C0162280,Conjunctival deposit | Conjunctival deposit (disorder) | Conjunctival deposits,SNOMEDCT ID:62660000,,,conjunctival deposit,MONDO:0001331,,,conjunctival deposit,DOID:11653,, +BMGC_DS03872,BMG_DS005689,Corneal deposit,UMLS ID:C0162281,Corneal deposit | Corneal deposit (disorder),SNOMEDCT ID:74460005,,,corneal deposit,MONDO:0001308,,,corneal deposit,DOID:11547,, +BMGC_DS03873,BMG_DS005690,Nephrogenic Diabetes Insipidus,UMLS ID:C0162283,,,,,nephrogenic diabetes insipidus,MONDO:0016383,"Diabetes Insipidus, Nephrogenic",MeSH ID:D018500,nephrogenic diabetes insipidus,DOID:12387,, +BMGC_DS03874,BMG_DS005691,,UMLS ID:C0162291,,,,,retinal ischemia,MONDO:0001538,,,retinal ischemia,DOID:12510,, +BMGC_DS03875,BMG_DS005692,External Ophthalmoplegia,UMLS ID:C0162292,,,,,,,Ophthalmoplegia,MeSH ID:D009886,,,, +BMGC_DS03876,BMG_DS005693,Polyarthralgia,UMLS ID:C0162296,(Joint: [disorder NOS] or [unstable]) or (polyarthralgia) | Unstable joint | Polyarthralgia | Joint disorder NOS | Joint unstable | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) (disorder) | Polyarthralgia | Multiple joint pain | Arthralgia of multiple joints | Pain of multiple joints | Pain of multiple joints (finding) | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) | Unstable joint | Polyarthralgia | Joint disorder NOS | Joint unstable | (Joint: [disorder NOS] or [unstable]) or (polyarthralgia) (finding),SNOMEDCT ID:268070006 | SNOMEDCT ID:35678005 | SNOMEDCT ID:156616003,,,,,Arthralgia,MeSH ID:D018771,,,, +BMGC_DS03877,BMG_DS005694,Calculus in urethra,UMLS ID:C0162301,Calculus in urethra | Urethral stone | Urethral calculus | Calculus in urethra (disorder),SNOMEDCT ID:20342001,Calculus in urethra,ICD11 ID:GB71.1,urethral calculus,MONDO:0004826,,,urethral calculus,DOID:9589,ICD10 ID:N21.1, +BMGC_DS03878,BMG_DS005695,Adrenoleukodystrophy,UMLS ID:C0162309,Adrenoleukodystrophy | Bronze Schilder disease | Schilder-Addison complex | Siemerling-Creutzfeldt disease | Adrenoleukodystrophy (disorder) | X-linked adrenoleucodystrophy | Adrenoleucodystrophy | ALD - adrenoleukodystrophy | X-linked adrenoleukodystrophy,SNOMEDCT ID:65389002,,,adrenoleukodystrophy,MONDO:0018544,Adrenoleukodystrophy,MeSH ID:D000326,adrenoleukodystrophy,DOID:10588,,OMIM ID:300100 +BMGC_DS03879,BMG_DS005696,Androgenetic Alopecia,UMLS ID:C0162311,,,,,androgenetic alopecia,MONDO:0005339,Alopecia,MeSH ID:D000505,,,, +BMGC_DS03880,BMG_DS005697,Iron deficiency anemia,UMLS ID:C0162316,(Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Kelly-Paterson syndrome | Plummer-Vinson syndrome | Plummer-Vinson syndr. | Kelly-Paterson synd. | Anemia - iron defic. | Microcytic anemia | Iron deficiency anemias | Iron deficiency anemia | Microcytic anaemia | Iron deficiency anaemias | Anaemia - iron defic. | Iron deficiency anaemia | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder) | Iron deficiency anemia | Asiderotic anemia | Chlorotic anemia | Sideropenic anemia | Iron deficiency anaemia | IDA - Iron deficiency anemia | Iron deficiency anemia syndrome | Asiderotic anaemia | IDA - Iron deficiency anaemia | Sideropenic anaemia | Iron deficiency anaemia syndrome | Chlorotic anaemia | Iron deficiency anemia (disorder) | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Anemia - iron defic. | Iron deficiency anemia | Iron deficiency anemias | Microcytic anemia | Kelly-Paterson syndrome | Plummer-Vinson syndrome | Plummer-Vinson syndr. | Kelly-Paterson synd. | Iron deficiency anaemias | Iron deficiency anaemia | Microcytic anaemia | Anaemia - iron defic. | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder),SNOMEDCT ID:154787005 | SNOMEDCT ID:87522002 | SNOMEDCT ID:267553005,,,iron deficiency anemia,MONDO:0001356,,,,,ICD10 ID:D50,OMIM ID:MTHU036458 +BMGC_DS03881,BMG_DS005698,Polyarthritis,UMLS ID:C0162323,Unspecified polyarthropathy or polyarthritis NOS | Polyarthritis | (Unspecified polyarthropathy or polyarthritis NOS) or (polyarthritis) | (Unspecified polyarthropathy or polyarthritis NOS) or (polyarthritis) (disorder) | Polyarthritis | Polyarthritis (disorder) | Inflammatory polyarthropathy | Inflammatory polyarthritis | Polyarthritis | Undifferentiated inflammatory polyarthritis | Inflammatory polyarthropathy (disorder) | Undifferentiated inflammatory polyarthritis (disorder) | Undifferentiated inflammatory polyarthritis | Polyarthritis,SNOMEDCT ID:202032009 | SNOMEDCT ID:41397009 | SNOMEDCT ID:30701005 | SNOMEDCT ID:416956002,,,polyarticular arthritis,MONDO:0024280,Arthritis,MeSH ID:D001168,,,,OMIM ID:MTHU041499 +BMGC_DS03882,BMG_DS005699,Christ-Siemens-Touraine syndrome,UMLS ID:C0162359,Hypohidrotic ectodermal dysplasia syndrome | Hypohidrotic ectodermal dysplasia syndrome (disorder) | Christ-Siemens-Touraine syndrome | CST - Christ-Siemens-Touraine syndrome | Hypohidrotic X-linked ectodermal dysplasia | Hypohidrotic X-linked ectodermal dysplasia (disorder),SNOMEDCT ID:4826006 | SNOMEDCT ID:239007005,,,X-linked hypohidrotic ectodermal dysplasia,MONDO:0010585,,,hypohidrotic ectodermal dysplasia | ectodermal dysplasia 1,DOID:0111664;DOID:14793,,OMIM ID:305100 +BMGC_DS03883,BMG_DS005700,Hidrotic Ectodermal Dysplasia,UMLS ID:C0162361,,,,,Clouston syndrome,MONDO:0007510,Ectodermal Dysplasia,MeSH ID:D004476,Clouston syndrome,DOID:14693,,OMIM ID:129500 +BMGC_DS03884,BMG_DS005701,"Granuloma, Giant Cell Reparative",UMLS ID:C0162375,,,,,giant cell reparative granuloma,MONDO:0006770,"Granuloma, Giant Cell",MeSH ID:D006101,giant cell reparative granuloma,DOID:1866,, +BMGC_DS03885,BMG_DS005702,Miliaria Rubra,UMLS ID:C0162423,,,,,miliaria rubra,MONDO:0006581,Miliaria,MeSH ID:D008883,miliaria rubra,DOID:11153,, +BMGC_DS03886,BMG_DS005703,Malnutrition,UMLS ID:C0162429,Nutritional disorder | Nutritional disease | Disorder of nutrition | Malnutrition | Nutritional disorder (disorder),SNOMEDCT ID:2492009,,,,,Malnutrition,MeSH ID:D044342,,,,OMIM ID:MTHU026060 +BMGC_DS03887,BMG_DS005704,Parapsoriasis en Plaques,UMLS ID:C0162442,,,,,,,Parapsoriasis,MeSH ID:D010267,,,, +BMGC_DS03888,BMG_DS005707,,UMLS ID:C0162482,,,,,uterine inversion,MONDO:0004936,,,uterine inversion,DOID:997,, +BMGC_DS03889,BMG_DS005712,Caroli Disease,UMLS ID:C0162510,,,,,Caroli disease,MONDO:0010913,Caroli Disease,MeSH ID:D016767,Caroli disease,DOID:0050876,,OMIM ID:600643 +BMGC_DS03890,BMG_DS005713,AIDS-Related Opportunistic Infections,UMLS ID:C0162526,,,,,,,AIDS-Related Opportunistic Infections,MeSH ID:D017088,,,, +BMGC_DS03891,BMG_DS005714,"Colitis, Ischemic",UMLS ID:C0162529,,,,,ischemic colitis,MONDO:0000701,"Colitis, Ischemic",MeSH ID:D017091,ischemic colitis,DOID:0060181,, +BMGC_DS03892,BMG_DS005715,,UMLS ID:C0162530,,,,,,,,,cutaneous porphyria,DOID:13271,, +BMGC_DS03893,BMG_DS005716,Hereditary Coproporphyria,UMLS ID:C0162531,,,,,hereditary coproporphyria,MONDO:0007369,"Coproporphyria, Hereditary",MeSH ID:D046349,hereditary coproporphyria,DOID:13269,,OMIM ID:121300 +BMGC_DS03894,BMG_DS005717,Variegate Porphyria,UMLS ID:C0162532,,,,,variegate porphyria,MONDO:0008297,"Porphyria, Variegate",MeSH ID:D046350,variegate porphyria,DOID:4346,,OMIM ID:176200 +BMGC_DS03895,BMG_DS005718,"Porphyrias, Hepatic",UMLS ID:C0162533,,,,,hepatic porphyria,MONDO:0002520,"Porphyrias, Hepatic",MeSH ID:D017094,acute porphyria,DOID:3133,, +BMGC_DS03896,BMG_DS005719,Prion Diseases,UMLS ID:C0162534,,,,,prion disease,MONDO:0005429,Prion Diseases,MeSH ID:D017096,prion disease,DOID:649,, +BMGC_DS03897,BMG_DS005720,Immunoglobulin A deficiency (disorder),UMLS ID:C0162538,Immunoglobulin A deficiency | IgA deficiency | Immunoglobulin A deficiency (disorder),SNOMEDCT ID:29260007,,,,,,,immunoglobulin alpha deficiency | selective IgA deficiency disease,DOID:0060025;DOID:11701,, +BMGC_DS03898,BMG_DS005721,Immunoglobulin G deficiency (disorder),UMLS ID:C0162539,Immunoglobulin G deficiency (disorder) | Immunoglobulin G deficiency,SNOMEDCT ID:12631000119106,,,selective IgG subclass deficiency,MONDO:0001901,,,selective IgG deficiency disease,DOID:14176,, +BMGC_DS03899,BMG_DS005722,"Akathisia, Tardive",UMLS ID:C0162549,,,,,,,"Akathisia, Drug-Induced",MeSH ID:D017109,,,, +BMGC_DS03900,BMG_DS005723,"Akathisia, Drug-Induced",UMLS ID:C0162550,,,,,drug-induced akathisia,MONDO:0006731,"Akathisia, Drug-Induced",MeSH ID:D017109,,,, +BMGC_DS03901,BMG_DS005724,"Liver Failure, Acute",UMLS ID:C0162557,,,,,acute liver failure,MONDO:0019542,"Liver Failure, Acute",MeSH ID:D017114,,,, +BMGC_DS03902,BMG_DS005725,Acute intermittent porphyria,UMLS ID:C0162565,Acute intermittent porphyria | Acute intermittent porphyria (disorder) | Acute intermittent porphyria | AIP - Acute intermittent porphyria | Acute intermittent porphyria (disorder) | Acute intermittent porphyria | AIP - Acute intermittent porphyria | Pyrroloporphyria | Acute porphyria | Intermittent acute porphyria | Swedish porphyria | Intermittent acute porphyria syndrome | Acute intermittent porphyria (disorder),SNOMEDCT ID:90842001 | SNOMEDCT ID:190914003 | SNOMEDCT ID:234422006,,,acute intermittent porphyria,MONDO:0008294,,,acute intermittent porphyria,DOID:3890,,OMIM ID:176000 +BMGC_DS03903,BMG_DS005726,Porphyria Cutanea Tarda,UMLS ID:C0162566,,,,,porphyria cutanea tarda,MONDO:0015104,Porphyria Cutanea Tarda,MeSH ID:D017119,porphyria cutanea tarda,DOID:3132,, +BMGC_DS03904,BMG_DS005727,Erythropoietic Protoporphyria,UMLS ID:C0162568,,,,,erythropoietic protoporphyria,MONDO:0001676,"Protoporphyria, Erythropoietic",MeSH ID:D046351,erythropoietic protoporphyria,DOID:13270,, +BMGC_DS03905,BMG_DS005728,Hepatoerythropoietic Porphyria,UMLS ID:C0162569,,,,,hepatoerythropoietic porphyria,MONDO:0019799,"Porphyria, Hepatoerythropoietic",MeSH ID:D017121,hepatoerythropoietic porphyria,DOID:5230,, +BMGC_DS03906,BMG_DS005729,Anisakiasis,UMLS ID:C0162576,Anisakiasis | Infection by Anisakis larva | Infection caused by Anisakis larva | Infection caused by Anisakis larva (disorder) | Infection by Anisakis larva | Anisakiosis | Herring worm disease | Herringworm disease | Anisakiasis | Anisakiasis (disorder) | Infection by Anisakis larva | Infection by Anisakis larva (disorder),SNOMEDCT ID:442652006 | SNOMEDCT ID:187173002 | SNOMEDCT ID:32183007,Anisakiasis,ICD11 ID:1F61,anisakiasis,MONDO:0015200,Anisakiasis,MeSH ID:D017129,anisakiasis,DOID:7033,ICD10 ID:B81.0, +BMGC_DS03907,BMG_DS005734,"Skin Diseases, Bacterial",UMLS ID:C0162627,,,,,skin disease caused by bacterial infection,MONDO:0024295,"Skin Diseases, Bacterial",MeSH ID:D017192,,,, +BMGC_DS03908,BMG_DS005735,"Skin Diseases, Viral",UMLS ID:C0162628,,,,,,,"Skin Diseases, Viral",MeSH ID:D017193,,,, +BMGC_DS03909,BMG_DS005736,Oxyurida Infections,UMLS ID:C0162629,,,,,,,Oxyurida Infections,MeSH ID:D017194,,,, +BMGC_DS03910,BMG_DS005738,Angelman Syndrome,UMLS ID:C0162635,,,,,Angelman syndrome,MONDO:0007113,Angelman Syndrome,MeSH ID:D017204,Angelman syndrome,DOID:1932,,OMIM ID:105830 +BMGC_DS03911,BMG_DS005741,Root Caries,UMLS ID:C0162644,,,,,root caries,MONDO:0006957,Root Caries,MeSH ID:D017213,root caries,DOID:14089,, +BMGC_DS03912,BMG_DS005742,Gastric outlet obstruction,UMLS ID:C0162651,(Adult hypertrophic pyloric stenosis) or (gastric outlet obstruction) | Gastric outlet obstruction | Gastric outflow obstruction | Adult hypertrophic pyloric stenosis | (Adult hypertrophic pyloric stenosis) or (gastric outlet obstruction) (disorder),SNOMEDCT ID:196759006,,,,,,,gastric outlet obstruction,DOID:3122,, +BMGC_DS03913,BMG_DS005743,Mitochondrial Encephalomyopathies,UMLS ID:C0162666,,,,,mitochondrial encephalomyopathy,MONDO:0004675,Mitochondrial Encephalomyopathies,MeSH ID:D017237,mitochondrial encephalomyopathy,DOID:890,, +BMGC_DS03914,BMG_DS005744,Megaconial Myopathies,UMLS ID:C0162668,,,,,,,Mitochondrial Myopathies,MeSH ID:D017240,,,, +BMGC_DS03915,BMG_DS005745,Pleoconial Myopathies,UMLS ID:C0162669,,,,,,,Mitochondrial Myopathies,MeSH ID:D017240,,,, +BMGC_DS03916,BMG_DS005746,Mitochondrial Myopathies,UMLS ID:C0162670,,,,,inborn mitochondrial myopathy,MONDO:0009637,Mitochondrial Myopathies,MeSH ID:D017240,mitochondrial myopathy,DOID:699,, +BMGC_DS03917,BMG_DS005747,MELAS Syndrome,UMLS ID:C0162671,,,,,MELAS syndrome,MONDO:0010789,MELAS Syndrome,MeSH ID:D017241,MELAS syndrome,DOID:3687,,OMIM ID:540000 +BMGC_DS03918,BMG_DS005748,MERRF Syndrome,UMLS ID:C0162672,,,,,MERRF syndrome,MONDO:0010790,MERRF Syndrome,MeSH ID:D017243,MERRF syndrome,DOID:310,,OMIM ID:545000 +BMGC_DS03919,BMG_DS005749,Chronic progressive external ophthalmoplegia,UMLS ID:C0162674,Chronic progressive external ophthalmoplegia | Chronic progressive external ophthalmoplegia (disorder) | Progressive external ophthalmoplegia | Graefe's disease | Chronic progressive ophthalmoplegia | Chronic progressive external ophthalmoplegia | CPEO - chronic progressive external ophthalmoplegia | Progressive external ophthalmoplegia (disorder) | PEO - Progressive external ophthalmoplegia,SNOMEDCT ID:194126004 | SNOMEDCT ID:46252003 | SNOMEDCT ID:194034008,,,progressive external ophthalmoplegia,MONDO:0005181,,,chronic progressive external ophthalmoplegia,DOID:12558,, +BMGC_DS03920,BMG_DS005750,Caliciviridae Infections,UMLS ID:C0162677,,,,,Caliciviridae infectious disease,MONDO:0005687,Caliciviridae Infections,MeSH ID:D017250,,,, +BMGC_DS03921,BMG_DS005751,,UMLS ID:C0162678,,,,,neurofibromatosis,MONDO:0021061,,,neurofibromatosis,DOID:8712,, +BMGC_DS03922,BMG_DS005752,Tick-Borne Infections,UMLS ID:C0162699,,,,,,,Tick-Borne Diseases,MeSH ID:D017282,,,, +BMGC_DS03923,BMG_DS005753,Tick-Borne Diseases,UMLS ID:C0162700,,,,,tick-borne infectious disease,MONDO:0025294,Tick-Borne Diseases,MeSH ID:D017282,,,, +BMGC_DS03924,BMG_DS005754,HELLP Syndrome,UMLS ID:C0162739,,,,,HELLP syndrome,MONDO:0008585,HELLP Syndrome,MeSH ID:D017359,HELLP syndrome,DOID:13133,, +BMGC_DS03925,BMG_DS005755,Right Ventricular Hypertrophy,UMLS ID:C0162770,,,,,,,"Hypertrophy, Right Ventricular",MeSH ID:D017380,,,, +BMGC_DS03926,BMG_DS005756,Kallmann Syndrome,UMLS ID:C0162809,,,,,Kallmann syndrome,MONDO:0018800,Kallmann Syndrome,MeSH ID:D017436,Kallmann syndrome,DOID:3614,, +BMGC_DS03927,BMG_DS005759,"Skin Diseases, Vascular",UMLS ID:C0162819,,,,,skin vascular disease,MONDO:0019293,"Skin Diseases, Vascular",MeSH ID:D017445,vascular skin disease,DOID:9540,, +BMGC_DS03928,BMG_DS005760,"Dermatitis, Allergic Contact",UMLS ID:C0162820,,,,,allergic contact dermatitis,MONDO:0006525,"Dermatitis, Allergic Contact",MeSH ID:D017449,allergic contact dermatitis,DOID:3042,, +BMGC_DS03929,BMG_DS005761,"Dermatitis, Irritant",UMLS ID:C0162823,,,,,irritant dermatitis,MONDO:0006564,"Dermatitis, Irritant",MeSH ID:D017453,irritant dermatitis,DOID:2772,, +BMGC_DS03930,BMG_DS005762,"Dermatitis, Photoallergic",UMLS ID:C0162824,,,,,photoallergic dermatitis,MONDO:0006596,"Dermatitis, Photoallergic",MeSH ID:D017454,photoallergic dermatitis,DOID:3818,, +BMGC_DS03931,BMG_DS005763,"Dermatitis, Phototoxic",UMLS ID:C0162830,,,,,phototoxic dermatitis,MONDO:0006598,"Dermatitis, Phototoxic",MeSH ID:D017484,phototoxic dermatitis,DOID:4407,, +BMGC_DS03932,BMG_DS005764,,UMLS ID:C0162834,,,,,hyperpigmentation of the skin,MONDO:0019289,,,,,, +BMGC_DS03933,BMG_DS005765,Hypopigmentation disorder,UMLS ID:C0162835,Hypopigmentation disorder | Hypopigmentation disorder (disorder),SNOMEDCT ID:201284005,,,hypopigmentation of the skin,MONDO:0019290,,,,,, +BMGC_DS03934,BMG_DS005766,Hidradenitis Suppurativa,UMLS ID:C0162836,,,,,hidradenitis suppurativa,MONDO:0006559,Hidradenitis Suppurativa,MeSH ID:D017497,hidradenitis suppurativa,DOID:2280,, +BMGC_DS03935,BMG_DS005767,"Porokeratosis, Palmoplantar",UMLS ID:C0162838,,,,,porokeratosis plantaris palmaris et disseminata,MONDO:0008291,Porokeratosis,MeSH ID:D017499,,,,OMIM ID:175850 +BMGC_DS03936,BMG_DS005768,,UMLS ID:C0162839,,,,,porokeratosis,MONDO:0006602,,,porokeratosis,DOID:3805,, +BMGC_DS03937,BMG_DS005769,Lichenoid Eruptions,UMLS ID:C0162848,,,,,,,Lichenoid Eruptions,MeSH ID:D017512,,,, +BMGC_DS03938,BMG_DS005770,Lichen Nitidus,UMLS ID:C0162849,,,,,lichen nitidus,MONDO:0006571,Lichen Nitidus,MeSH ID:D017513,lichen nitidus,DOID:8573,, +BMGC_DS03939,BMG_DS005775,Mucinoses,UMLS ID:C0162855,,,,,cutaneous mucinosis,MONDO:0002523,Mucinoses,MeSH ID:D017520,mucinoses,DOID:3141,, +BMGC_DS03940,BMG_DS005776,"Aneurysm, Ruptured",UMLS ID:C0162869,,,,,,,"Aneurysm, Ruptured",MeSH ID:D017542,,,, +BMGC_DS03941,BMG_DS005777,,UMLS ID:C0162871,,,,,abdominal aortic aneurysm,MONDO:0005350,,,abdominal aortic aneurysm,DOID:7693,, +BMGC_DS03942,BMG_DS005778,,UMLS ID:C0162872,,,,,thoracic aortic aneurysm,MONDO:0005396,,,thoracic aortic aneurysm,DOID:14004,, +BMGC_DS03943,BMG_DS005780,Citrullinemia,UMLS ID:C0175683,Citrullinemia | Arginosuccinate synthetase deficiency | Argininosuccinate synthase deficiency | Argininosuccinase deficiency | ASAS deficiency | ASA synthase deficiency | ASS deficiency | Citrullinuria | Citrullinaemia | Citrullinemia (disorder) | Citrullinemia (disorder) | Citrullinaemia | Citrullinemia,SNOMEDCT ID:15489004 | SNOMEDCT ID:398680004,,,citrullinemia,MONDO:0015991,Citrullinemia,MeSH ID:D020159,citrullinemia,DOID:9273,ICD10 ID:E72.23,OMIM ID:MTHU038623 +BMGC_DS03944,BMG_DS005781,Dubowitz syndrome,UMLS ID:C0175691,Dubowitz's syndrome | Dubowitz's syndrome (disorder) | Dubowitz syndrome,SNOMEDCT ID:2593002,,,Dubowitz syndrome,MONDO:0009124,,MeSH ID:C535718,Dubowitz syndrome,DOID:14796,ICD10 ID:Q87.19,OMIM ID:223370 +BMGC_DS03945,BMG_DS005782,Johanson-Blizzard syndrome,UMLS ID:C0175692,Johanson-Blizzard syndrome | Johanson-Blizzard syndrome (disorder),SNOMEDCT ID:75979009,,,Johanson-Blizzard syndrome,MONDO:0009479,,,Johanson-Blizzard syndrome,DOID:14694,,OMIM ID:260450 | OMIM ID:243800 +BMGC_DS03946,BMG_DS005783,Russell-Silver syndrome,UMLS ID:C0175693,Russell-Silver syndrome | Silver syndrome | Russell's syndrome | Russell-Silver syndrome (disorder),SNOMEDCT ID:15069006,,,Silver-Russell syndrome,MONDO:0008394,,,Silver-Russell syndrome,DOID:14681,ICD10 ID:Q87.19, +BMGC_DS03947,BMG_DS005784,Smith-Lemli-Opitz Syndrome,UMLS ID:C0175694,,,,,Smith-Lemli-Opitz syndrome,MONDO:0010035,Smith-Lemli-Opitz Syndrome,MeSH ID:D019082,Smith-Lemli-Opitz syndrome,DOID:14692,,OMIM ID:270400 +BMGC_DS03948,BMG_DS005785,Sotos' syndrome,UMLS ID:C0175695,Sotos' syndrome | Cerebral gigantism syndrome | Cerebral giant | Sotos' syndrome (disorder) | Cerebral gigantism | Sotos syndrome,SNOMEDCT ID:75968004,,,Sotos syndrome,MONDO:0019349,,,Sotos syndrome,DOID:14748,,OMIM ID:117550 +BMGC_DS03949,BMG_DS005787,Van der Woude syndrome,UMLS ID:C0175697,Van der Woude syndrome | Lip-pit-cleft lip syndrome | Van der Woude syndrome (disorder),SNOMEDCT ID:79261008,,,van der Woude syndrome,MONDO:0019508,,MeSH ID:C536528,Van der Woude syndrome,DOID:0060239,, +BMGC_DS03950,BMG_DS005788,Saethre-Chotzen Syndrome,UMLS ID:C0175699,,,,,Saethre-Chotzen syndrome,MONDO:0007042,Acrocephalosyndactylia,MeSH ID:D000168,Saethre-Chotzen syndrome,DOID:14768,,OMIM ID:101400 +BMGC_DS03951,BMG_DS005789,Multiple synostosis syndrome,UMLS ID:C0175700,Multiple synostosis syndrome | Symphalangism syndrome | Multiple synostosis syndrome (disorder),SNOMEDCT ID:62628008,,,multiple synostoses syndrome,MONDO:0017923,,,calcaneonavicular coalition,DOID:14762,, +BMGC_DS03952,BMG_DS005790,Aarskog syndrome,UMLS ID:C0175701,Aarskog syndrome | Aarskog syndrome (disorder),SNOMEDCT ID:205809002 | SNOMEDCT ID:14921002,,,"Aarskog-Scott syndrome, X-linked",MONDO:0010589,,,X-linked Aarskog syndrome,DOID:6683,ICD10 ID:Q87.19,OMIM ID:305400 +BMGC_DS03953,BMG_DS005791,Williams Syndrome,UMLS ID:C0175702,,,,,Williams syndrome,MONDO:0008678,Williams Syndrome,MeSH ID:D018980,Williams-Beuren syndrome,DOID:1928,,OMIM ID:194050 +BMGC_DS03954,BMG_DS005792,Thrombocytopenia-Absent Radius Syndrome,UMLS ID:C0175703,,,,,thrombocytopenia-absent radius syndrome,MONDO:0010121,,MeSH ID:C536940,thrombocytopenia-absent radius syndrome,DOID:14699,,OMIM ID:274000 +BMGC_DS03955,BMG_DS005793,LEOPARD Syndrome,UMLS ID:C0175704,,,,,Noonan syndrome with multiple lentigines,MONDO:0007893,LEOPARD Syndrome,MeSH ID:D044542,Noonan syndrome with multiple lentigines,DOID:14291,, +BMGC_DS03956,BMG_DS005794,Asplenia Syndrome,UMLS ID:C0175707,,,,,,,Heterotaxy Syndrome,MeSH ID:D059446,,,, +BMGC_DS03957,BMG_DS005796,Centronuclear myopathy,UMLS ID:C0175709,Myotubular myopathy | Centronuclear myopathy | Myotubular myopathy (disorder) | Centronuclear myopathy | Centronuclear myopathy (disorder),SNOMEDCT ID:82077006 | SNOMEDCT ID:193223007,,,centronuclear myopathy,MONDO:0018947,,,centronuclear myopathy,DOID:14717,ICD10 ID:G71.22, +BMGC_DS03958,BMG_DS005797,Aicardi's syndrome,UMLS ID:C0175713,Aicardi's syndrome | Aicardi's syndrome (disorder) | AIC - Aicardi syndrome | Aicardi syndrome,SNOMEDCT ID:80651009,,,Aicardi syndrome,MONDO:0010568,,,Aicardi syndrome,DOID:8461,,OMIM ID:304050 +BMGC_DS03959,BMG_DS005798,,UMLS ID:C0175754,,,,,"corpus callosum, agenesis of",MONDO:0009022,,,,,,OMIM ID:217990 +BMGC_DS03960,BMG_DS005800,Larsen syndrome,UMLS ID:C0175778,(Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) | Pes cavus | Dysmorphic toes | Congenital limb deformity NOS | Claw toe | Larsen syndrome | Cavus - pes | Larsen's syndrome | (Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) (disorder) | Larsen syndrome | Larsen syndrome (disorder) | (Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) | Cavus - pes | Congenital limb deformity NOS | Larsen's syndrome | Pes cavus | Claw toe | Dysmorphic toes | Larsen syndrome | (Congenital limb deformity NOS) or (pes cavus) or (claw toe) or (dysmorphic toes) or (Larsen's syndrome) (disorder),SNOMEDCT ID:268343006 | SNOMEDCT ID:63387002 | SNOMEDCT ID:156993005,,,Larsen syndrome,MONDO:0007875,,,,,,OMIM ID:150250 +BMGC_DS03961,BMG_DS005801,,UMLS ID:C0175816,,,,,"autoimmune hemolytic anemia, cold type",MONDO:0016450,,,,,, +BMGC_DS03962,BMG_DS005803,Post-inflammatory pulmonary fibrosis,UMLS ID:C0175999,Post-inflammatory pulmonary fibrosis | Post-inflammatory pulmonary fibrosis (disorder) | Postinflammatory pulmonary fibrosis,SNOMEDCT ID:266368002,,,postinflammatory pulmonary fibrosis,MONDO:0001438,,,postinflammatory pulmonary fibrosis,DOID:12123,, +BMGC_DS03963,BMG_DS005804,Intestinal infectious disease (disorder),UMLS ID:C0178238,Intestinal infectious disease | Intestinal infection | Infectious disease of intestine | Intestinal infectious disease (disorder) | Intestinal infectious disease | Intestinal infectious disease (disorder),SNOMEDCT ID:266071000 | SNOMEDCT ID:187266003,,,intestinal infectious disease,MONDO:0000916,,,intestinal infectious disease,DOID:100,, +BMGC_DS03964,BMG_DS005809,Other disorders of central nervous system,UMLS ID:C0178266,,,,,,,,,,,ICD10 ID:G96, +BMGC_DS03965,BMG_DS005819,Hypoplastic anemia,UMLS ID:C0178416,Hypoplastic anemia | Hypoplastic anaemia | Hypoplastic anemia (disorder),SNOMEDCT ID:41614006,,,,,,,,,,OMIM ID:MTHU014878 +BMGC_DS03966,BMG_DS005820,,UMLS ID:C0178421,,,,,breast fibroadenoma,MONDO:0002056,,,breast fibroadenoma,DOID:1618,, +BMGC_DS03967,BMG_DS005821,Oligohydramnios sequence,UMLS ID:C0178426,Oligohydramnios sequence | Potter syndrome | Renofacial syndrome | Renal agenesis syndrome | Congenital absence of kidneys syndrome | Oligohydramnios sequence (disorder) | BRA - Bilateral renal agenesis | Potter's anomaly of the kidney | Bilateral congenital absence of kidneys,SNOMEDCT ID:41962002,,,Potter sequence,MONDO:0001558,,,Potter's syndrome,DOID:12594,, +BMGC_DS03968,BMG_DS005823,Cerebral Hypoxia-Ischemia,UMLS ID:C0178540,,,,,,,"Hypoxia-Ischemia, Brain",MeSH ID:D020925,,,, +BMGC_DS03969,BMG_DS005825,Glomerulosclerosis (disorder),UMLS ID:C0178664,Glomerulosclerosis | Glomerulosclerosis (disorder),SNOMEDCT ID:197661001,,,glomerulosclerosis,MONDO:0000490,,,,,, +BMGC_DS03970,BMG_DS005829,,UMLS ID:C0178830,,,,,reproductive system neoplasm,MONDO:0006054,,,reproductive organ cancer,DOID:193,, +BMGC_DS03971,BMG_DS005830,Urinary tract obstruction,UMLS ID:C0178879,Urinary tract obstruction | Obstructive uropathy | Urinary tract obstruction (disorder),SNOMEDCT ID:7163005,,,urinary tract obstruction,MONDO:0003330,,,urinary tract obstruction,DOID:5200,, +BMGC_DS03972,BMG_DS005832,,UMLS ID:C0205643,,,,,cribriform carcinoma,MONDO:0006176,,,cribriform carcinoma,DOID:5675,, +BMGC_DS03973,BMG_DS005833,,UMLS ID:C0205644,,,,,granular cell carcinoma,MONDO:0003197,,,granular cell carcinoma,DOID:4903,, +BMGC_DS03974,BMG_DS005834,,UMLS ID:C0205645,,,,,tubular adenocarcinoma,MONDO:0005606,,,tubular adenocarcinoma,DOID:4929,, +BMGC_DS03975,BMG_DS005835,,UMLS ID:C0205647,,,,,,,,,follicular adenoma,DOID:6204,, +BMGC_DS03976,BMG_DS005836,,UMLS ID:C0205648,,,,,microcystic adenoma,MONDO:0003435,,,microcystic adenoma,DOID:5403,, +BMGC_DS03977,BMG_DS005837,,UMLS ID:C0205650,,,,,papillary adenoma,MONDO:0002533,,,papillary adenoma,DOID:3172,, +BMGC_DS03978,BMG_DS005838,"Infections, Arenavirus",UMLS ID:C0205671,,,,,Arenaviridae infectious disease,MONDO:0005650,Arenaviridae Infections,MeSH ID:D001117,,,, +BMGC_DS03979,BMG_DS005840,,UMLS ID:C0205697,,,,,sarcomatoid carcinoma,MONDO:0006406,,,sarcomatoid carcinoma,DOID:4015,, +BMGC_DS03980,BMG_DS005843,Alpers Syndrome,UMLS ID:C0205710,,,,,mitochondrial DNA depletion syndrome 4a,MONDO:0008758,Diffuse Cerebral Sclerosis of Schilder,MeSH ID:D002549,Alpers-Huttenlocher syndrome,DOID:0080122,,OMIM ID:203700 +BMGC_DS03981,BMG_DS005844,Pelizaeus-Merzbacher Disease,UMLS ID:C0205711,,,,,Pelizeaus-Merzbacher spectrum disorder,MONDO:0010714,Pelizaeus-Merzbacher Disease,MeSH ID:D020371,Pelizaeus-Merzbacher disease,DOID:3210,,OMIM ID:312080 +BMGC_DS03982,BMG_DS005845,,UMLS ID:C0205713,,,,,Roussy-Levy syndrome,MONDO:0008392,,,,,,OMIM ID:180800 +BMGC_DS03983,BMG_DS005847,"Diabetes, Autoimmune",UMLS ID:C0205734,,,,,,,"Diabetes Mellitus, Type 1",MeSH ID:D003922,,,, +BMGC_DS03984,BMG_DS005849,,UMLS ID:C0205747,,,,,,,,,dysplastic nevus syndrome,DOID:10041,, +BMGC_DS03985,BMG_DS005850,Chronic Cystic Mastitis,UMLS ID:C0205765,,,,,,,Fibrocystic Breast Disease,MeSH ID:D005348,,,, +BMGC_DS03986,BMG_DS005851,,UMLS ID:C0205766,,,,,fibromyxoid tumor,MONDO:0037745,,,,,, +BMGC_DS03987,BMG_DS005852,,UMLS ID:C0205768,,,,,subependymal giant cell astrocytoma,MONDO:0016693,,,subependymal giant cell astrocytoma,DOID:5077,, +BMGC_DS03988,BMG_DS005853,,UMLS ID:C0205769,,,,,myxopapillary ependymoma,MONDO:0016699,,,myxopapillary ependymoma,DOID:5075,, +BMGC_DS03989,BMG_DS005854,,UMLS ID:C0205770,,,,,choroid plexus papilloma,MONDO:0009837,,,choroid plexus papilloma,DOID:2626,,OMIM ID:260500 +BMGC_DS03990,BMG_DS005855,,UMLS ID:C0205788,,,,,epithelioid hemangioma,MONDO:0021169,,,histiocytoid hemangioma,DOID:474,, +BMGC_DS03991,BMG_DS005856,,UMLS ID:C0205789,,,,,intramuscular hemangioma,MONDO:0003088,,,intramuscular hemangioma,DOID:468,, +BMGC_DS03992,BMG_DS005857,,UMLS ID:C0205792,,,,,,,,,enterocele,DOID:1283,, +BMGC_DS03993,BMG_DS005858,,UMLS ID:C0205815,,,,,epithelioid leiomyosarcoma,MONDO:0003356,,,epithelioid leiomyosarcoma,DOID:5264,, +BMGC_DS03994,BMG_DS005859,,UMLS ID:C0205816,,,,,myxoid leiomyosarcoma,MONDO:0003359,,,myxoid leiomyosarcoma,DOID:5268,, +BMGC_DS03995,BMG_DS005861,,UMLS ID:C0205823,,,,,pleomorphic lipoma,MONDO:0000966,,,pleomorphic lipoma,DOID:10192,, +BMGC_DS03996,BMG_DS005862,,UMLS ID:C0205824,,,,,dedifferentiated liposarcoma,MONDO:0020563,,,,,, +BMGC_DS03997,BMG_DS005863,,UMLS ID:C0205825,,,,,pleomorphic liposarcoma,MONDO:0020562,,,pleomorphic liposarcoma,DOID:5702,, +BMGC_DS03998,BMG_DS005865,,UMLS ID:C0205833,,,,,medullomyoblastoma with myogenic differentiation,MONDO:0006300,,,medullomyoblastoma,DOID:3861,, +BMGC_DS03999,BMG_DS005866,,UMLS ID:C0205851,,,,,germ cell tumor,MONDO:0005040,,,germ cell cancer,DOID:2994,, +BMGC_DS04000,BMG_DS005869,,UMLS ID:C0205874,,,,,squamous papilloma,MONDO:0001825,,,squamous cell papilloma,DOID:139,, +BMGC_DS04001,BMG_DS005870,,UMLS ID:C0205875,,,,,papillomatosis,MONDO:0021098,,,papilloma,DOID:2615,, +BMGC_DS04002,BMG_DS005872,,UMLS ID:C0205898,,,,,pineoblastoma,MONDO:0016722,,,pineoblastoma,DOID:1664,, +BMGC_DS04003,BMG_DS005874,Algoneurodystrophy,UMLS ID:C0205930,Algoneurodystrophy | Algoneurodystrophy (disorder) | Reflex sympathetic dystrophy | RSD - Reflex sympathetic dystrophy | Algoneurodystrophy | Algodystrophy | CRPS - Complex regional pain syndrome type I | Complex regional pain syndrome type I | Reflex sympathetic dystrophy (disorder),SNOMEDCT ID:7359008 | SNOMEDCT ID:203490000,"Disorders associated with bone growth, unspecified",ICD11 ID:FB86.Z,algoneurodystrophy,MONDO:0001859,,,algoneurodystrophy,DOID:14022,ICD10 ID:M89.0, +BMGC_DS04004,BMG_DS005875,,UMLS ID:C0205944,,,,,epithelioid sarcoma,MONDO:0017387,,,epithelioid sarcoma,DOID:6193,, +BMGC_DS04005,BMG_DS005876,,UMLS ID:C0205945,,,,,spindle cell sarcoma,MONDO:0002927,,,spindle cell sarcoma,DOID:4235,, +BMGC_DS04006,BMG_DS005877,,UMLS ID:C0205969,,,,,thymic carcinoma,MONDO:0006451,,,thymic carcinoma,DOID:3284,, +BMGC_DS04007,BMG_DS005878,HIV Encephalopathy,UMLS ID:C0206019,,,,,,,AIDS Dementia Complex,MeSH ID:D015526,,,, +BMGC_DS04008,BMG_DS005879,Fatal Familial Insomnia,UMLS ID:C0206042,,,,,fatal familial insomnia,MONDO:0010808,"Insomnia, Fatal Familial",MeSH ID:D034062,fatal familial insomnia,DOID:0050433,,OMIM ID:600072 +BMGC_DS04009,BMG_DS005880,"Infections, Calicivirus",UMLS ID:C0206044,,,,,Caliciviridae infectious disease,MONDO:0005687,Caliciviridae Infections,MeSH ID:D017250,,,, +BMGC_DS04010,BMG_DS005881,Photoallergy,UMLS ID:C0206051,Immunologic photosensitivity | Allergic photosensitivity | Photoallergy | Photoallergy (disorder) | Photosensitivity | Photosensitivity (finding) | Photosensitivity of skin,SNOMEDCT ID:115664001 | SNOMEDCT ID:90128006,,,,,"Dermatitis, Photoallergic",MeSH ID:D017454,,,, +BMGC_DS04011,BMG_DS005882,"Pneumonia, Interstitial",UMLS ID:C0206061,,,,,,,"Lung Diseases, Interstitial",MeSH ID:D017563,,,, +BMGC_DS04012,BMG_DS005883,"Lung Diseases, Interstitial",UMLS ID:C0206062,,,,,,,"Lung Diseases, Interstitial",MeSH ID:D017563,interstitial lung disease,DOID:3082,, +BMGC_DS04013,BMG_DS005884,Microvascular Angina,UMLS ID:C0206064,,,,,coronary microvascular disorder,MONDO:0044875,Microvascular Angina,MeSH ID:D017566,,,, +BMGC_DS04014,BMG_DS005885,Focal Epithelial Hyperplasia,UMLS ID:C0206067,,,,,focal epithelial hyperplasia,MONDO:0009237,Focal Epithelial Hyperplasia,MeSH ID:D017573,focal epithelial hyperplasia,DOID:5362,,OMIM ID:229045 +BMGC_DS04015,BMG_DS005886,Hyperandrogenism,UMLS ID:C0206081,Hyperandrogenism | Hyperandrogenisation syndrome | Hyperandrogenization syndrome | Hyperandrogenization syndrome (disorder),SNOMEDCT ID:237793004,,,obsolete hyperandrogenism,MONDO:0001324,Hyperandrogenism,MeSH ID:D017588,hyperandrogenism,DOID:11613,,OMIM ID:MTHU024060 +BMGC_DS04016,BMG_DS005887,"Myelinolysis, Central Pontine",UMLS ID:C0206083,,,,,central pontine myelinolysis,MONDO:0006692,"Myelinolysis, Central Pontine",MeSH ID:D017590,central pontine myelinolysis,DOID:636,, +BMGC_DS04017,BMG_DS005888,Kleine-Levin Syndrome,UMLS ID:C0206085,,,,,Kleine-Levin syndrome,MONDO:0007863,Kleine-Levin Syndrome,MeSH ID:D017593,Kleine-Levin syndrome,DOID:0060165,,OMIM ID:148840 +BMGC_DS04018,BMG_DS005889,,UMLS ID:C0206093,,,,,,,,,neuroectodermal tumor,DOID:171,, +BMGC_DS04019,BMG_DS005892,WAGR Syndrome,UMLS ID:C0206115,,,,,WAGR syndrome,MONDO:0008681,WAGR Syndrome,MeSH ID:D017624,WAGR syndrome,DOID:14515,,OMIM ID:194072 +BMGC_DS04020,BMG_DS005893,CREST Syndrome,UMLS ID:C0206138,,,,,CREST syndrome,MONDO:0019563,CREST Syndrome,MeSH ID:D017675,CREST syndrome,DOID:0060218,, +BMGC_DS04021,BMG_DS005894,"Lichen Planus, Oral",UMLS ID:C0206139,,,,,"lichen planus, oral",MONDO:0043923,"Lichen Planus, Oral",MeSH ID:D017676,,,, +BMGC_DS04022,BMG_DS005895,Idiopathic Hypereosinophilic Syndrome,UMLS ID:C0206141,,,,,idiopathic hypereosinophilic syndrome,MONDO:0011895,Hypereosinophilic Syndrome,MeSH ID:D017681,,,,OMIM ID:607685 +BMGC_DS04023,BMG_DS005896,Loeffler's Endocarditis,UMLS ID:C0206143,,,,,Loeffler endocarditis,MONDO:0019159,Hypereosinophilic Syndrome,MeSH ID:D017681,,,, +BMGC_DS04024,BMG_DS005897,Stunned Myocardium,UMLS ID:C0206145,,,,,,,Myocardial Stunning,MeSH ID:D017682,,,, +BMGC_DS04025,BMG_DS005898,Myocardial Stunning,UMLS ID:C0206146,,,,,myocardial stunning,MONDO:0004876,Myocardial Stunning,MeSH ID:D017682,myocardial stunning,DOID:9767,, +BMGC_DS04026,BMG_DS005900,"Myopathies, Nemaline",UMLS ID:C0206157,,,,,nemaline myopathy,MONDO:0018958,"Myopathies, Nemaline",MeSH ID:D017696,nemaline myopathy,DOID:3191,, +BMGC_DS04027,BMG_DS005901,Community-Acquired Infections,UMLS ID:C0206171,,,,,,,Community-Acquired Infections,MeSH ID:D017714,,,, +BMGC_DS04028,BMG_DS005903,Cytomegalovirus Retinitis,UMLS ID:C0206178,,,,,cytomegalovirus retinitis,MONDO:0000878,Cytomegalovirus Retinitis,MeSH ID:D017726,Cytomegalovirus retinitis,DOID:0080160,, +BMGC_DS04029,BMG_DS005904,,UMLS ID:C0206180,,,,,anaplastic large cell lymphoma,MONDO:0020325,,,,,, +BMGC_DS04030,BMG_DS005905,,UMLS ID:C0206182,,,,,lymphomatoid papulosis,MONDO:0020326,,,,,, +BMGC_DS04031,BMG_DS005906,,UMLS ID:C0206186,,,,,oral hairy leukoplakia,MONDO:0000743,,,oral hairy leukoplakia,DOID:0060315,, +BMGC_DS04032,BMG_DS005909,"Amyloid Neuropathies, Familial",UMLS ID:C0206245,,,,,familial amyloid neuropathy,MONDO:0007100,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS04033,BMG_DS005910,Amyloid Neuropathies,UMLS ID:C0206247,,,,,,,Amyloid Neuropathies,MeSH ID:D017772,,,, +BMGC_DS04034,BMG_DS005912,Canavan Disease,UMLS ID:C0206307,,,,,Canavan disease,MONDO:0010079,Canavan Disease,MeSH ID:D017825,Canavan disease,DOID:3613,,OMIM ID:271900 +BMGC_DS04035,BMG_DS005913,Exfoliation Syndrome,UMLS ID:C0206368,,,,,exfoliation syndrome,MONDO:0008327,Exfoliation Syndrome,MeSH ID:D017889,exfoliation syndrome,DOID:13641,, +BMGC_DS04036,BMG_DS005915,"Tuberculosis, Drug-Resistant",UMLS ID:C0206525,,,,,drug-resistant tuberculosis,MONDO:0041806,"Tuberculosis, Multidrug-Resistant",MeSH ID:D018088,,,, +BMGC_DS04037,BMG_DS005916,"Tuberculosis, Multidrug-Resistant",UMLS ID:C0206526,,,,,multidrug-resistant tuberculosis,MONDO:0005861,"Tuberculosis, Multidrug-Resistant",MeSH ID:D018088,multidrug-resistant tuberculosis,DOID:401,, +BMGC_DS04038,BMG_DS005918,Endolymphatic Hydrops,UMLS ID:C0206586,,,,,endolymphatic hydrops,MONDO:0006744,Endolymphatic Hydrops,MeSH ID:D018159,endolymphatic hydrops,DOID:9848,, +BMGC_DS04039,BMG_DS005924,Flavivirus Infections,UMLS ID:C0206608,,,,,,,Flavivirus Infections,MeSH ID:D018177,,,, +BMGC_DS04040,BMG_DS005930,Cardiovirus Infections,UMLS ID:C0206617,,,,,cardiovirus infectious disease,MONDO:0005691,Cardiovirus Infections,MeSH ID:D018188,,,, +BMGC_DS04041,BMG_DS005932,,UMLS ID:C0206620,,,,,cystic hygroma,MONDO:0009761,,,cystic lymphangioma,DOID:3081,,OMIM ID:257350 +BMGC_DS04042,BMG_DS005933,,UMLS ID:C0206622,,,,,adenomyoma,MONDO:0005635,,,adenomyoma,DOID:2609,, +BMGC_DS04043,BMG_DS005934,,UMLS ID:C0206623,,,,,adenosquamous carcinoma,MONDO:0006074,,,adenosquamous carcinoma,DOID:4830,, +BMGC_DS04044,BMG_DS005935,,UMLS ID:C0206624,,,,,hepatoblastoma,MONDO:0018666,,,hepatoblastoma,DOID:687,, +BMGC_DS04045,BMG_DS005936,,UMLS ID:C0206625,,,,,malignant mixed neoplasm,MONDO:0005853,,,mixed cell type cancer,DOID:154,, +BMGC_DS04046,BMG_DS005937,,UMLS ID:C0206627,,,,,,,,,carcinosarcoma,DOID:4236,, +BMGC_DS04047,BMG_DS005939,,UMLS ID:C0206629,,,,,pulmonary blastoma,MONDO:0005933,,,pulmonary blastoma,DOID:4765,, +BMGC_DS04048,BMG_DS005940,,UMLS ID:C0206630,,,,,endometrioid stromal sarcoma,MONDO:0006745,,,endometrial stromal sarcoma,DOID:4226,, +BMGC_DS04049,BMG_DS005941,,UMLS ID:C0206631,,,,,tumor of adipose tissue,MONDO:0021354,,,lipoma,DOID:3315,, +BMGC_DS04050,BMG_DS005942,,UMLS ID:C0206632,,,,,angiolipoma,MONDO:0006085,,,angiolipoma,DOID:3616,, +BMGC_DS04051,BMG_DS005943,,UMLS ID:C0206633,,,,,angiomyolipoma,MONDO:0002603,,,angiomyolipoma,DOID:3314,, +BMGC_DS04052,BMG_DS005944,,UMLS ID:C0206634,,,,,myxoid liposarcoma,MONDO:0013280,,,myxoid liposarcoma,DOID:5363,,OMIM ID:613488 +BMGC_DS04053,BMG_DS005946,,UMLS ID:C0206637,,,,,mesenchymal chondrosarcoma,MONDO:0006853,,,mesenchymal chondrosarcoma,DOID:4545,, +BMGC_DS04054,BMG_DS005947,,UMLS ID:C0206638,,,,,bone giant cell tumor,MONDO:0005674,,,bone giant cell tumor,DOID:4305,, +BMGC_DS04055,BMG_DS005948,,UMLS ID:C0206639,,,,,,,,,osteosarcoma,DOID:3347,, +BMGC_DS04056,BMG_DS005950,,UMLS ID:C0206642,,,,,juxtacortical osteosarcoma,MONDO:0006817,,,parosteal osteosarcoma,DOID:3373,, +BMGC_DS04057,BMG_DS005951,,UMLS ID:C0206643,,,,,fibroblastic neoplasm,MONDO:0006209,,,fibrosarcoma,DOID:3355,, +BMGC_DS04058,BMG_DS005952,,UMLS ID:C0206644,,,,,benign fibrous histiocytoma,MONDO:0002989,,,fibrous histiocytoma,DOID:4415,, +BMGC_DS04059,BMG_DS005953,,UMLS ID:C0206647,,,,,,,,,dermatofibrosarcoma protuberans,DOID:3507,, +BMGC_DS04060,BMG_DS005955,,UMLS ID:C0206650,,,,,,,,,breast fibroadenoma,DOID:1618,, +BMGC_DS04061,BMG_DS005956,,UMLS ID:C0206651,,,,,clear cell sarcoma,MONDO:0002926,,,clear cell sarcoma,DOID:4233,, +BMGC_DS04062,BMG_DS005957,,UMLS ID:C0206652,,,,,small cell sarcoma,MONDO:0006974,,,small cell sarcoma,DOID:3098,, +BMGC_DS04063,BMG_DS005958,,UMLS ID:C0206653,,,,,angioleiomyoma,MONDO:0006646,,,angiomyoma,DOID:4265,, +BMGC_DS04064,BMG_DS005959,,UMLS ID:C0206654,,,,,leiomyomatosis,MONDO:0003295,,,leiomyomatosis,DOID:5138,, +BMGC_DS04065,BMG_DS005960,,UMLS ID:C0206655,,,,,alveolar rhabdomyosarcoma,MONDO:0009994,,,alveolar rhabdomyosarcoma,DOID:4051,,OMIM ID:268220 +BMGC_DS04066,BMG_DS005961,,UMLS ID:C0206656,,,,,embryonal rhabdomyosarcoma,MONDO:0009993,,,embryonal rhabdomyosarcoma,DOID:3246,,OMIM ID:268210 +BMGC_DS04067,BMG_DS005962,,UMLS ID:C0206657,,,,,alveolar soft part sarcoma,MONDO:0011655,,,alveolar soft part sarcoma,DOID:4239,,OMIM ID:606243 +BMGC_DS04068,BMG_DS005963,,UMLS ID:C0206658,,,,,smooth muscle tumor,MONDO:0006975,,,smooth muscle tumor,DOID:4310,, +BMGC_DS04069,BMG_DS005964,,UMLS ID:C0206659,,,,,embryonal carcinoma,MONDO:0005440,,,embryonal carcinoma,DOID:3308,, +BMGC_DS04070,BMG_DS005965,,UMLS ID:C0206660,,,,,germinoma,MONDO:0002598,,,germinoma,DOID:3304,, +BMGC_DS04071,BMG_DS005967,,UMLS ID:C0206663,,,,,primitive neuroectodermal tumor,MONDO:0005462,,,medulloblastoma,DOID:0050902,, +BMGC_DS04072,BMG_DS005968,,UMLS ID:C0206664,,,,,teratocarcinoma,MONDO:0002599,,,teratocarcinoma,DOID:3305,, +BMGC_DS04073,BMG_DS005969,,UMLS ID:C0206666,,,,,placental site trophoblastic tumor,MONDO:0020552,,,placental site trophoblastic tumor,DOID:3596,, +BMGC_DS04074,BMG_DS005970,,UMLS ID:C0206667,,,,,adrenal cortex adenoma,MONDO:0003924,,,,,, +BMGC_DS04075,BMG_DS005971,,UMLS ID:C0206669,,,,,hepatocellular adenoma,MONDO:0018902,,,,,, +BMGC_DS04076,BMG_DS005972,,UMLS ID:C0206671,,,,,eccrine acrospiroma,MONDO:0006738,,,eccrine acrospiroma,DOID:5442,, +BMGC_DS04077,BMG_DS005973,,UMLS ID:C0206672,,,,,hidrocystoma,MONDO:0006787,,,hidrocystoma,DOID:3893,, +BMGC_DS04078,BMG_DS005974,,UMLS ID:C0206673,,,,,syringoma,MONDO:0002191,,,syringoma,DOID:2065,, +BMGC_DS04079,BMG_DS005975,,UMLS ID:C0206674,,,,,villous adenoma,MONDO:0000502,,,,,, +BMGC_DS04080,BMG_DS005976,,UMLS ID:C0206675,,,,,adenomatoid tumor,MONDO:0004230,,,adenomatoid tumor,DOID:746,, +BMGC_DS04081,BMG_DS005977,,UMLS ID:C0206681,,,,,clear cell adenocarcinoma,MONDO:0005004,,,clear cell adenocarcinoma,DOID:4468,, +BMGC_DS04082,BMG_DS005978,,UMLS ID:C0206682,,,,,thyroid gland follicular carcinoma,MONDO:0005034,,,follicular thyroid carcinoma,DOID:3962,, +BMGC_DS04083,BMG_DS005980,,UMLS ID:C0206684,,,,,sebaceous adenocarcinoma,MONDO:0006962,,,sebaceous adenocarcinoma,DOID:4839,, +BMGC_DS04084,BMG_DS005981,,UMLS ID:C0206685,,,,,acinar cell carcinoma,MONDO:0004965,,,acinar cell carcinoma,DOID:3025,, +BMGC_DS04085,BMG_DS005982,,UMLS ID:C0206686,,,,,adrenal cortex carcinoma,MONDO:0006639,,,adrenocortical carcinoma,DOID:3948,, +BMGC_DS04086,BMG_DS005983,,UMLS ID:C0206687,,,,,,,,,endometrial carcinoma,DOID:2871,, +BMGC_DS04087,BMG_DS005984,,UMLS ID:C0206692,,,,,breast lobular carcinoma,MONDO:0000552,,,invasive lobular carcinoma,DOID:3457,, +BMGC_DS04088,BMG_DS005985,,UMLS ID:C0206694,,,,,mucoepidermoid carcinoma,MONDO:0003036,,,mucoepidermoid carcinoma,DOID:4531,, +BMGC_DS04089,BMG_DS005986,,UMLS ID:C0206695,,,,,neuroendocrine carcinoma,MONDO:0002120,,,neuroendocrine carcinoma,DOID:1800,, +BMGC_DS04090,BMG_DS005987,,UMLS ID:C0206696,,,,,signet ring cell carcinoma,MONDO:0005092,,,signet ring cell adenocarcinoma,DOID:3493,, +BMGC_DS04091,BMG_DS005989,,UMLS ID:C0206698,,,,,cholangiocarcinoma,MONDO:0019087,,,cholangiocarcinoma,DOID:4947,, +BMGC_DS04092,BMG_DS005990,,UMLS ID:C0206699,,,,,mucinous cystadenocarcinoma,MONDO:0005858,,,mucinous cystadenocarcinoma,DOID:3603,, +BMGC_DS04093,BMG_DS005991,,UMLS ID:C0206700,,,,,papillary cystadenocarcinoma,MONDO:0005074,,,papillary cystadenocarcinoma,DOID:3110,, +BMGC_DS04094,BMG_DS005992,,UMLS ID:C0206701,,,,,serous cystadenocarcinoma,MONDO:0024621,,,serous cystadenocarcinoma,DOID:3114,, +BMGC_DS04095,BMG_DS005993,,UMLS ID:C0206702,,,,,hilar cholangiocarcinoma,MONDO:0003345,,,Klatskin's tumor,DOID:4927,, +BMGC_DS04096,BMG_DS005994,,UMLS ID:C0206703,,,,,,,,,lung giant cell carcinoma,DOID:5583,, +BMGC_DS04097,BMG_DS005995,,UMLS ID:C0206704,,,,,large cell carcinoma,MONDO:0005232,,,large cell carcinoma,DOID:4552,, +BMGC_DS04098,BMG_DS005996,,UMLS ID:C0206706,,,,,verrucous carcinoma,MONDO:0006006,,,verrucous carcinoma,DOID:3737,, +BMGC_DS04099,BMG_DS005999,,UMLS ID:C0206710,,,,,basal cell neoplasm,MONDO:0020799,,,basal cell carcinoma,DOID:2513,, +BMGC_DS04100,BMG_DS006000,,UMLS ID:C0206711,,,,,pilomatrixoma,MONDO:0007564,,,pilomatrixoma,DOID:5374,,OMIM ID:132600 +BMGC_DS04101,BMG_DS006001,,UMLS ID:C0206713,,,,,intraductal papilloma,MONDO:0002060,,,intraductal papilloma,DOID:1627,, +BMGC_DS04102,BMG_DS006003,,UMLS ID:C0206716,,,,,ganglioglioma,MONDO:0016733,,,ganglioglioma,DOID:5078,, +BMGC_DS04103,BMG_DS006004,,UMLS ID:C0206717,,,,,esthesioneuroblastoma,MONDO:0016029,,,olfactory neuroblastoma,DOID:369,, +BMGC_DS04104,BMG_DS006005,,UMLS ID:C0206718,,,,,ganglioneuroblastoma,MONDO:0005035,,,ganglioneuroblastoma,DOID:4163,, +BMGC_DS04105,BMG_DS006006,,UMLS ID:C0206719,,,,,central neurocytoma,MONDO:0019134,,,central neurocytoma,DOID:14174,, +BMGC_DS04106,BMG_DS006007,,UMLS ID:C0206720,,,,,squamous cell neoplasm,MONDO:0002532,,,squamous cell neoplasm,DOID:3168,, +BMGC_DS04107,BMG_DS006008,,UMLS ID:C0206721,,,,,inverted papilloma,MONDO:0002537,,,inverted papilloma,DOID:3179,, +BMGC_DS04108,BMG_DS006010,,UMLS ID:C0206723,,,,,Sertoli-Leydig cell tumor,MONDO:0002479,,,Sertoli-Leydig cell tumor,DOID:2997,, +BMGC_DS04109,BMG_DS006011,,UMLS ID:C0206724,,,,,sex cord-stromal tumor,MONDO:0006055,,,sex cord-gonadal stromal tumor,DOID:192,, +BMGC_DS04110,BMG_DS006012,,UMLS ID:C0206725,,,,,subependymoma,MONDO:0007667,,,subependymal glioma,DOID:4843,, +BMGC_DS04111,BMG_DS006013,,UMLS ID:C0206726,,,,,gliosarcoma,MONDO:0016681,,,gliosarcoma,DOID:3071,, +BMGC_DS04112,BMG_DS006014,,UMLS ID:C0206727,,,,,nerve sheath neoplasm,MONDO:0002547,,,peripheral nervous system neoplasm,DOID:1192,, +BMGC_DS04113,BMG_DS006015,,UMLS ID:C0206728,,,,,plexiform neurofibroma,MONDO:0003304,,,plexiform neurofibroma,DOID:5151,, +BMGC_DS04114,BMG_DS006016,,UMLS ID:C0206729,,,,,neurofibrosarcoma,MONDO:0002675,,,neurofibrosarcoma,DOID:3512,, +BMGC_DS04115,BMG_DS006018,,UMLS ID:C0206733,,,,,capillary hemangioma,MONDO:0002407,,,capillary hemangioma,DOID:2725,, +BMGC_DS04116,BMG_DS006019,,UMLS ID:C0206734,,,,,hemangioblastoma,MONDO:0016748,,,hemangioblastoma,DOID:5241,, +BMGC_DS04117,BMG_DS006020,,UMLS ID:C0206735,,,,,amelanotic melanoma,MONDO:0002971,,,amelanotic melanoma,DOID:4359,, +BMGC_DS04118,BMG_DS006021,,UMLS ID:C0206736,,,,,blue nevus,MONDO:0006680,,,,,, +BMGC_DS04119,BMG_DS006024,,UMLS ID:C0206739,,,,,spitz nevus,MONDO:0044793,,,,,, +BMGC_DS04120,BMG_DS006025,,UMLS ID:C0206743,,,,,rhabdoid tumor,MONDO:0002728,,,rhabdoid cancer,DOID:3672,, +BMGC_DS04121,BMG_DS006026,"T-Lymphocytopenia, Idiopathic CD4-Positive",UMLS ID:C0206744,,,,,idiopathic CD4-positive T-lymphocytopenia,MONDO:0005807,"T-Lymphocytopenia, Idiopathic CD4-Positive",MeSH ID:D018344,idiopathic CD4-positive T-lymphocytopenia,DOID:3109,, +BMGC_DS04122,BMG_DS006028,Coronavirus Infections,UMLS ID:C0206750,,,,,Coronavinae infectious disease,MONDO:0005719,Coronavirus Infections,MeSH ID:D018352,,,, +BMGC_DS04123,BMG_DS006032,,UMLS ID:C0206754,,,,,neuroendocrine neoplasm,MONDO:0019496,,,neuroendocrine tumor,DOID:169,, +BMGC_DS04124,BMG_DS006033,,UMLS ID:C0206762,,,,,congenital deformities of limbs,MONDO:0017427,,,,,, +BMGC_DS04125,BMG_DS006036,,UMLS ID:C0220616,,,,,Bartholin gland neoplasm,MONDO:0021114,,,Bartholin's gland benign neoplasm,DOID:2068,, +BMGC_DS04126,BMG_DS006038,,UMLS ID:C0220624,,,,,,,,,brain cancer,DOID:1319,, +BMGC_DS04127,BMG_DS006039,,UMLS ID:C0220633,,,,,uveal melanoma,MONDO:0006486,,,uveal melanoma,DOID:6039,,OMIM ID:155720 +BMGC_DS04128,BMG_DS006040,,UMLS ID:C0220636,,,,,salivary gland cancer,MONDO:0004669,,,,,, +BMGC_DS04129,BMG_DS006041,,UMLS ID:C0220641,,,,,lip and oral cavity carcinoma,MONDO:0023644,,,,,, +BMGC_DS04130,BMG_DS006045,Pfeiffer Syndrome,UMLS ID:C0220658,,,,,Pfeiffer syndrome,MONDO:0007043,Acrocephalosyndactylia,MeSH ID:D000168,Pfeiffer syndrome,DOID:14705,,OMIM ID:101600 +BMGC_DS04131,BMG_DS006046,Acrodysostosis,UMLS ID:C0220659,Acrodysostosis | Acrodysostosis (disorder),SNOMEDCT ID:66758006,,,acrodysostosis,MONDO:0019797,,MeSH ID:C538179,acrodysostosis,DOID:14669,,OMIM ID:MTHU039921 +BMGC_DS04132,BMG_DS006047,,UMLS ID:C0220660,,,,,"adactylia, unilateral",MONDO:0007062,,,,,,OMIM ID:102650 +BMGC_DS04133,BMG_DS006048,"ARTHROGRYPOSIS, DISTAL, TYPE 1",UMLS ID:C0220662,,,,,"arthrogryposis, distal, type 1A",MONDO:0007157,,,,,,OMIM ID:108120 +BMGC_DS04134,BMG_DS006049,"Blepharophimosis, Ptosis, and Epicanthus Inversus",UMLS ID:C0220663,,,,,"blepharophimosis, ptosis, and epicanthus inversus syndrome",MONDO:0007201,,MeSH ID:C562419,"blepharophimosis, ptosis, and epicanthus inversus syndrome",DOID:14778,,OMIM ID:110100 +BMGC_DS04135,BMG_DS006050,,UMLS ID:C0220664,,,,,brachydactyly type D,MONDO:0007222,,,,,,OMIM ID:113200 +BMGC_DS04136,BMG_DS006051,"ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",UMLS ID:C0220666,,,,,Gordon syndrome,MONDO:0007252,,,,,,OMIM ID:114300 +BMGC_DS04137,BMG_DS006052,,UMLS ID:C0220668,,,,,congenital contractural arachnodactyly,MONDO:0007363,,,congenital contractural arachnodactyly,DOID:0111595,,OMIM ID:121050 +BMGC_DS04138,BMG_DS006053,,UMLS ID:C0220669,,,,,benign neonatal seizures,MONDO:0016027,,,benign familial neonatal epilepsy,DOID:14777,, +BMGC_DS04139,BMG_DS006055,Goldenhar Syndrome with Ipsilateral Radial Defect,UMLS ID:C0220681,,,,,oculoauriculovertebral spectrum with radial defects,MONDO:0007712,Goldenhar Syndrome,MeSH ID:D006053,,,,OMIM ID:141400 +BMGC_DS04140,BMG_DS006056,,UMLS ID:C0220685,,,,,achondrogenesis type II,MONDO:0008702,,,,,,OMIM ID:200610 +BMGC_DS04141,BMG_DS006057,Aase Smith syndrome,UMLS ID:C0220686,,,,,Aase-Smith syndrome,MONDO:0007839,,MeSH ID:C535332,,,,OMIM ID:147800 +BMGC_DS04142,BMG_DS006058,KBG syndrome,UMLS ID:C0220687,"Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome | KBG syndrome | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome",SNOMEDCT ID:711156009,,,KBG syndrome,MONDO:0007846,,MeSH ID:C537015,KBG syndrome,DOID:14780,,OMIM ID:148050 +BMGC_DS04143,BMG_DS006059,,UMLS ID:C0220690,,,,,"macrocephaly, benign familial",MONDO:0007923,,,,,,OMIM ID:153470 +BMGC_DS04144,BMG_DS006060,"Maxillonasal dysplasia, Binder type",UMLS ID:C0220692,,,,,Binder syndrome,MONDO:0007953,,MeSH ID:C536036,Binder syndrome,DOID:14683,,OMIM ID:155050 +BMGC_DS04145,BMG_DS006061,Microcephaly autosomal dominant,UMLS ID:C0220693,,,,,autosomal dominant primary microcephaly,MONDO:0007988,,MeSH ID:C537323,autosomal dominant microcephaly,DOID:14725,,OMIM ID:156580 +BMGC_DS04146,BMG_DS006063,,UMLS ID:C0220697,,,,,postaxial polydactyly,MONDO:0020927,,,polydactyly,DOID:1148,, +BMGC_DS04147,BMG_DS006064,RETINITIS PIGMENTOSA 1,UMLS ID:C0220701,,,,,retinitis pigmentosa 1,MONDO:0008377,,,retinitis pigmentosa,DOID:10584,,OMIM ID:180100 | OMIM ID:603937 +BMGC_DS04148,BMG_DS006065,,UMLS ID:C0220702,,,,,schizophrenia 1,MONDO:0008414,,,,,,OMIM ID:181510 +BMGC_DS04149,BMG_DS006066,Shprintzen syndrome,UMLS ID:C0220704,Shprintzen syndrome | Shprintzen syndrome (disorder) | Shprintzen syndrome | Velo-cardio-facial syndrome | Shprintzen syndrome (disorder) | Velocardiofacial syndrome | VCF-Velocardiofacial syndrome | 22q11 microdeletion with velocardiofacial syndrome phenotype,SNOMEDCT ID:205642004 | SNOMEDCT ID:83092002,,,velocardiofacial syndrome,MONDO:0008644,,,velocardiofacial syndrome,DOID:12583,,OMIM ID:192430 +BMGC_DS04150,BMG_DS006067,,UMLS ID:C0220708,,,,,,,,,VACTERL association,DOID:14679,, +BMGC_DS04151,BMG_DS006068,Medium-chain acyl-coenzyme A dehydrogenase deficiency,UMLS ID:C0220710,Reye's syndrome | Reye's encephalopathy | Reye's syndrome (disorder) | Reye syndrome | MCAD deficiency | Medium-chain acyl-coenzyme A dehydrogenase deficiency | MCAD - Medium chain acyl-CoA dehydrogenase deficiency | Medium chain acyl-CoA dehydrogenase deficiency | Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder),SNOMEDCT ID:74351001 | SNOMEDCT ID:128596003,,,medium chain acyl-CoA dehydrogenase deficiency,MONDO:0008721,,,,,,OMIM ID:201450 +BMGC_DS04152,BMG_DS006069,Long chain acyl-CoA dehydrogenase deficiency,UMLS ID:C0220711,Long chain acyl-CoA dehydrogenase deficiency | LCAD - Long chain acyl-CoA dehydrogenase deficiency | Long chain acyl-coenzyme A dehydrogenase deficiency | Long chain acyl-coenzyme A dehydrogenase deficiency (disorder),SNOMEDCT ID:237996001,,,long chain acyl-CoA dehydrogenase deficiency,MONDO:0020531,,,,,, +BMGC_DS04153,BMG_DS006070,"CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY",UMLS ID:C0220721,,,,,cataract 46 juvenile-onset,MONDO:0008925,,,,,,OMIM ID:616312 | OMIM ID:212500 +BMGC_DS04154,BMG_DS006071,Cerebrooculofacioskeletal Syndrome 1,UMLS ID:C0220722,,,,,cerebrooculofacioskeletal syndrome 1,MONDO:0008955,,MeSH ID:C562434,,,,OMIM ID:214150 +BMGC_DS04155,BMG_DS006072,,UMLS ID:C0220723,,,,,,,,,choanal atresia,DOID:9574,, +BMGC_DS04156,BMG_DS006073,,UMLS ID:C0220724,,,,,amniotic band syndrome,MONDO:0015167,,,,,,OMIM ID:217100 +BMGC_DS04157,BMG_DS006074,Diastrophic dysplasia,UMLS ID:C0220726,Diastrophic dysplasia | Diastrophic nanism syndrome | Diastrophic dwarf | Diastrophic dysplasia (disorder) | DTD - Diastrophic dysplasia | Diastrophic dysplasia syndrome | DD - Diastrophic dysplasia | Diastrophic dwarfism,SNOMEDCT ID:58561002,Diastrophic dysplasia,ICD11 ID:LD24.03,diastrophic dysplasia,MONDO:0009107,,MeSH ID:C536170,diastrophic dysplasia,DOID:14687,ICD10 ID:Q77.5,OMIM ID:222600 +BMGC_DS04158,BMG_DS006075,Fryns syndrome,UMLS ID:C0220730,"Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) | Fryns syndrome | Diaphragmatic hernia, abnormal face and distal limb anomalies",SNOMEDCT ID:702432006,,,Fryns syndrome,MONDO:0009253,,MeSH ID:C538070,,,,OMIM ID:229850 +BMGC_DS04159,BMG_DS006077,Bixler Christian Gorlin syndrome,UMLS ID:C0220742,"Hypertelorism with microtia and facial clefting syndrome (disorder) | Hypertelorism with microtia and facial clefting syndrome | Bixler Christian Gorlin syndrome | HMC (hypertelorism, microtia, clefting) syndrome",SNOMEDCT ID:721836009,,,"hypertelorism, microtia, facial clefting syndrome",MONDO:0009404,,MeSH ID:C537632,"hypertelorism, microtia, facial clefting syndrome",DOID:14670,,OMIM ID:239800 +BMGC_DS04160,BMG_DS006078,Childhood hypophosphatasia (disorder),UMLS ID:C0220743,"Childhood hypophosphatasia | Hypophosphatasia, childhood type | Juvenile hypophosphatasia | Childhood hypophosphatasia (disorder)",SNOMEDCT ID:30174008,,,,,,,hypophosphatasia,DOID:14213,, +BMGC_DS04161,BMG_DS006079,,UMLS ID:C0220744,,,,,multiple intestinal atresia,MONDO:0009465,,,multiple intestinal atresia,DOID:14671,, +BMGC_DS04162,BMG_DS006080,Cartilage-hair hypoplasia,UMLS ID:C0220748,,,,,cartilage-hair hypoplasia,MONDO:0009595,,MeSH ID:C535916,cartilage-hair hypoplasia,DOID:14773,,OMIM ID:250250 +BMGC_DS04163,BMG_DS006082,Biotinidase Deficiency,UMLS ID:C0220754,,,,,biotinidase deficiency,MONDO:0009665,Biotinidase Deficiency,MeSH ID:D028921,biotinidase deficiency,DOID:856,,OMIM ID:253260 +BMGC_DS04164,BMG_DS006083,"Niemann-Pick Disease, Type C",UMLS ID:C0220756,,,,,Niemann-Pick disease type C,MONDO:0018982,"Niemann-Pick Disease, Type C",MeSH ID:D052556,,,, +BMGC_DS04165,BMG_DS006084,,UMLS ID:C0220757,,,,,"Blount disease, infantile",MONDO:0008571,,,Blount's disease,DOID:14798,,OMIM ID:188700 +BMGC_DS04166,BMG_DS006085,Weaver-Like Syndrome,UMLS ID:C0220765,,,,,,,,MeSH ID:C562443,Weaver syndrome,DOID:14731,, +BMGC_DS04167,BMG_DS006086,Craniofrontonasal dysplasia,UMLS ID:C0220767,Craniofrontonasal dysplasia (disorder) | Craniofrontonasal dysplasia | Craniofrontonasal syndrome,SNOMEDCT ID:715421009,,,craniofrontonasal syndrome,MONDO:0010570,,MeSH ID:C536456,craniofrontonasal syndrome,DOID:14737,,OMIM ID:304110 +BMGC_DS04168,BMG_DS006087,FG syndrome,UMLS ID:C0220769,FG syndrome | FG syndrome (disorder),SNOMEDCT ID:49984004,,,FG syndrome,MONDO:0002010,,MeSH ID:C537923,FG syndrome,DOID:14711,, +BMGC_DS04169,BMG_DS006088,"RUSSELL-SILVER SYNDROME, X-LINKED",UMLS ID:C0220775,,,,,"Russell-silver syndrome, X-linked",MONDO:0010727,,,Partington syndrome,DOID:14744,,OMIM ID:312780 +BMGC_DS04170,BMG_DS006091,,UMLS ID:C0220981,,,,,metabolic acidosis,MONDO:0000440,,,,,, +BMGC_DS04171,BMG_DS006092,Ketoacidosis,UMLS ID:C0220982,Ketoacidosis | Ketoacidosis (disorder),SNOMEDCT ID:56051008,,,,,Ketosis,MeSH ID:D007662,,,,OMIM ID:MTHU012088 +BMGC_DS04172,BMG_DS006093,Hereditary orotic aciduria,UMLS ID:C0220987,Hereditary orotic aciduria | Hereditary orotic aciduria (disorder),SNOMEDCT ID:16242007,,,orotic aciduria,MONDO:0009797,,,,,,OMIM ID:258900 +BMGC_DS04173,BMG_DS006094,Xanthinuria (disorder),UMLS ID:C0220988,Xanthinuria | Xanthinuria (disorder),SNOMEDCT ID:190919008,,,xanthinuria,MONDO:0000721,,,xanthinuria,DOID:0060236,, +BMGC_DS04174,BMG_DS006095,Acquired partial lipodystrophy,UMLS ID:C0220989,Acquired partial lipodystrophy | Lipodystrophic diabetes with partial lipoatrophy | Barraquer syndrome | Barraquer-Simons syndrome | Hollander-Simons syndrome | Progressive partial lipodystrophy | Progressive lipodystrophy | Macrodystrophia lipomatosa progressiva | Partial lipoatrophy | Barraquer-Simons disease | Acquired partial lipodystrophy (disorder),SNOMEDCT ID:75659004,,,acquired partial lipodystrophy,MONDO:0012104,,,,,, +BMGC_DS04175,BMG_DS006096,Rotor Syndrome,UMLS ID:C0220991,,,,,Rotor syndrome,MONDO:0009379,"Hyperbilirubinemia, Hereditary",MeSH ID:D006933,,,,OMIM ID:237450 +BMGC_DS04176,BMG_DS006097,Histidinemia,UMLS ID:C0220992,Histidinemia (disorder) | Histidinaemia | Histidinemia | Histidine ammonia-lyase deficiency | Histidinemia | Histidinaemia | Histidine ammonia-lyase deficiency (disorder) | Histidase deficiency,SNOMEDCT ID:410058007 | SNOMEDCT ID:68458004,,,histidinemia,MONDO:0009345,,MeSH ID:C538320,histidinemia,DOID:0060168,ICD10 ID:E70.41,OMIM ID:235800 +BMGC_DS04177,BMG_DS006098,Cystathioninuria,UMLS ID:C0220993,Cystathioninuria | CTH - Cystathioninuria | Cystathioninuria (disorder) | Cystathionine gamma-lyase deficiency syndrome,SNOMEDCT ID:13003007,,,cystathioninuria,MONDO:0009058,,,cystathioninuria,DOID:0090142,ICD10 ID:E72.19,OMIM ID:219500 +BMGC_DS04178,BMG_DS006099,Hyperammonemia (disorder),UMLS ID:C0220994,Hyperammonemia | Hyperammonaemia | Hyperammonemia (disorder),SNOMEDCT ID:190717000 | SNOMEDCT ID:9360008,,,,,,,,,, +BMGC_DS04179,BMG_DS006101,Hypothalamic hypothyroidism,UMLS ID:C0220998,Hypothalamic hypothyroidism | Hypothyroidism due to TRH deficiency | Hypothalamic hypothyroidism (disorder) | Tertiary hypothyroidism,SNOMEDCT ID:37429009,,,isolated thyrotropin-releasing hormone deficiency,MONDO:0010140,,,,,,OMIM ID:275120 +BMGC_DS04180,BMG_DS006102,"Hyperparathyroidism, Primary",UMLS ID:C0221002,,,,,primary hyperparathyroidism,MONDO:0010837,"Hyperparathyroidism, Primary",MeSH ID:D049950,primary hyperparathyroidism,DOID:11202,, +BMGC_DS04181,BMG_DS006103,Mauriac's syndrome,UMLS ID:C0221005,Mauriac's syndrome | Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome | Mauriac's syndrome (disorder) | Mauriac syndrome,SNOMEDCT ID:80660001,,,Mauriac syndrome,MONDO:0022435,,,,,, +BMGC_DS04182,BMG_DS006106,Malignant Atrophic Papulosis,UMLS ID:C0221011,,,,,malignant atrophic papulosis,MONDO:0011208,Malignant Atrophic Papulosis,MeSH ID:D054853,,,,OMIM ID:602248 +BMGC_DS04183,BMG_DS006108,,UMLS ID:C0221013,,,,,systemic mastocytosis,MONDO:0016586,,,systemic mastocytosis,DOID:349,, +BMGC_DS04184,BMG_DS006112,Sickle cell-beta-thalassemia,UMLS ID:C0221019,Sickle cell-beta-thalassemia | Haemoglobin S/beta thalassaemia | Double heterozygous for Hb S and beta thalassaemia | Thalassaemia with haemoglobin S disease | Double heterozygous for Hb S and beta thalassemia | Hemoglobin S/beta thalassemia | Thalassemia with hemoglobin S disease | Sickle cell-beta-thalassaemia | Sickle cell-beta-thalassemia (disorder),SNOMEDCT ID:127041004,,,,,,,,,, +BMGC_DS04185,BMG_DS006113,Thalassemia-hemoglobin C disease,UMLS ID:C0221020,Hemoglobin C-F disease | Thalassemia-hemoglobin C disease | Haemoglobin C-F disease | Thalassaemia-haemoglobin C disease | Thalassemia-hemoglobin C disease (disorder),SNOMEDCT ID:61777009,,,hemoglobin C-beta-thalassemia syndrome,MONDO:0016490,,,,,, +BMGC_DS04186,BMG_DS006116,Cyclic neutropenia,UMLS ID:C0221023,Cyclic neutropenia | Periodic neutropenia | Cyclic neutropenia (disorder),SNOMEDCT ID:69295006,,,cyclic hematopoiesis,MONDO:0008090,,MeSH ID:C536227,cyclic hematopoiesis,DOID:5339,ICD10 ID:D70.4,OMIM ID:162800 +BMGC_DS04187,BMG_DS006117,Kasabach-Merritt syndrome,UMLS ID:C0221025,Kasabach-Merritt syndrome | Thrombocytopenia-hemangioma syndrome | Thrombocytopenia-haemangioma syndrome | Kasabach-Merritt syndrome (disorder) | Haemangiomatosis with thrombocytopenia | Haemangioma-haemorrhage syndrome | Hemangioma-hemorrhage syndrome | Hemangiomatosis with thrombocytopenia | Kasabach Merritt syndrome,SNOMEDCT ID:86635005,,,Kasabach-Merritt syndrome,MONDO:0007708,,,,,,OMIM ID:MTHU041322 | OMIM ID:141000 +BMGC_DS04188,BMG_DS006118,X-linked agammaglobulinemia,UMLS ID:C0221026,X-linked agammaglobulinemia | Bruton's type agammaglobulinemia | Bruton's type agammaglobulinaemia | X-linked agammaglobulinaemia | Bruton's agammaglobulinaemia | XLA - X-linked agammaglobulinaemia | Bruton's hypogammaglobulinaemia | Bruton's agammaglobulinemia | XLA - X-linked agammaglobulinemia | Bruton's hypogammaglobulinemia | X-linked agammaglobulinemia (disorder) | X linked agammaglobulinemia | X linked agammaglobulinaemia | BTK-deficiency | Bruton tyrosine kinase deficiency,SNOMEDCT ID:65880007,,,Bruton-type agammaglobulinemia,MONDO:0010421,,MeSH ID:C537409,X-linked agammaglobulinemia,DOID:14179,,OMIM ID:300755 +BMGC_DS04189,BMG_DS006122,Familial generalized lipodystrophy,UMLS ID:C0221032,Familial generalized lipodystrophy | Familial generalised lipodystrophy | Familial generalized lipodystrophy (disorder) | Familial generalised lipodystrophy | Generalised lipodystrophy | Lipodystrophy with muscular hypertrophy | Lipodystrophy of Berardinelli | Familial lipodystrophic diabetes | Congenital lipoatrophic diabetes | Congenital lipodystrophy | Congenital lipodystrophic diabetes | Total lipodystrophy AND acromegaloid gigantism | Berardinelli lipodystrophy syndrome | Berardinelli-Seip syndrome | Familial generalized lipodystrophy | Generalized lipodystrophy | Familial generalized lipodystrophy (disorder),SNOMEDCT ID:35824007 | SNOMEDCT ID:286289004,,,congenital generalized lipodystrophy,MONDO:0006536,,,,,, +BMGC_DS04190,BMG_DS006125,Acrodermatitis enteropathica,UMLS ID:C0221036,Hereditary acrodermatitis enteropathica | Primary zinc malabsorption syndrome | Brandt syndrome | Danbolt-Closs syndrome | Hereditary acrodermatitis enterohepatica | AE - Acrodermatitis enteropathica | Primary zinc malabsorption | Danbolt-Close syndrome | Acrodermatitis enteropathica | Hereditary acrodermatitis enteropathica (disorder),SNOMEDCT ID:37702000,"Disorders of zinc metabolism, unspecified",ICD11 ID:5C64.2Z,acrodermatitis enteropathica,MONDO:0008713,,MeSH ID:C538178,acrodermatitis enteropathica,DOID:0050605,ICD10 ID:E83.2,OMIM ID:MTHU077546 | OMIM ID:201100 +BMGC_DS04191,BMG_DS006130,Liddle Syndrome,UMLS ID:C0221043,,,,,Liddle syndrome,MONDO:0008323,Liddle Syndrome,MeSH ID:D056929,Liddle syndrome,DOID:0050477,, +BMGC_DS04192,BMG_DS006131,High output heart failure,UMLS ID:C0221045,High output heart failure | High output heart failure (disorder),SNOMEDCT ID:10091002,,,high output heart failure,MONDO:0005253,,,,,ICD10 ID:I50.83, +BMGC_DS04193,BMG_DS006132,"Syncope, Carotid Sinus",UMLS ID:C0221046,,,,,,,Syncope,MeSH ID:D013575,,,, +BMGC_DS04194,BMG_DS006135,Chronic berylliosis,UMLS ID:C0221052,Chronic berylliosis | Beryllium granuloma | Chronic beryllium disease | Chronic beryllium lung | Chronic beryllium lung disease | Chronic beryllium poisoning | Chronic berylliosis (disorder),SNOMEDCT ID:18121009,,,chronic beryllium disease,MONDO:0015274,,,,,, +BMGC_DS04195,BMG_DS006137,Welander Distal Myopathy,UMLS ID:C0221054,,,,,"distal myopathy, Welander type",MONDO:0011466,Distal Myopathies,MeSH ID:D049310,,,,OMIM ID:604454 +BMGC_DS04196,BMG_DS006138,,UMLS ID:C0221055,,,,,paramyotonia congenita of Von Eulenburg,MONDO:0008195,,,paramyotonia congenita of Von Eulenburg,DOID:0111538,,OMIM ID:168300 +BMGC_DS04197,BMG_DS006142,Subacute myelo-optic neuropathy,UMLS ID:C0221059,Neuromyelitis optica | Devic's disease | Subacute myelo-optic neuropathy | Neuromyelitis optica (disorder) | Devic syndrome | Optic neuromyelitis | SMON - subacute myelo-optico-neuropathy,SNOMEDCT ID:25044007,,,,,,,,,, +BMGC_DS04198,BMG_DS006143,Mobius Syndrome,UMLS ID:C0221060,,,,,Mobius syndrome,MONDO:0008006,Mobius Syndrome,MeSH ID:D020331,Moebius syndrome,DOID:13501,,OMIM ID:157900 +BMGC_DS04199,BMG_DS006144,Behr syndrome,UMLS ID:C0221061,Abortive cerebellar ataxia | Behr's syndrome I | Infantile optic atrophy-ataxia | Abortive cerebellar ataxia (disorder) | Behr syndrome | Behr syndrome (disorder) | Behr syndrome | Infantile hereditary optic atrophy with neurological abnormality,SNOMEDCT ID:66988006 | SNOMEDCT ID:718221007,,,Behr syndrome,MONDO:0008858,,MeSH ID:C537669,Behr syndrome,DOID:0111580,,OMIM ID:210000 +BMGC_DS04200,BMG_DS006145,Subacute Combined Degeneration,UMLS ID:C0221065,,,,,,,Subacute Combined Degeneration,MeSH ID:D052879,,,, +BMGC_DS04201,BMG_DS006146,Anterior Spinal Artery Syndrome,UMLS ID:C0221069,,,,,anterior spinal artery syndrome,MONDO:0006650,Anterior Spinal Artery Syndrome,MeSH ID:D020759,anterior spinal artery syndrome,DOID:6712,, +BMGC_DS04202,BMG_DS006147,,UMLS ID:C0221074,,,,,postpartum depression,MONDO:0005929,,,postpartum depression,DOID:9478,, +BMGC_DS04203,BMG_DS006151,Paroxysmal hypertension,UMLS ID:C0221154,Paroxysmal hypertension | Paroxysmal hypertension (disorder) | Episodic hypertension,SNOMEDCT ID:23130000,,,,,,,,,, +BMGC_DS04204,BMG_DS006153,,UMLS ID:C0221158,,,,,multifocal atrial tachycardia,MONDO:0017988,,,,,, +BMGC_DS04205,BMG_DS006154,Motor Disorders,UMLS ID:C0221163,,,,,,,,MeSH ID:D000068079,,,, +BMGC_DS04206,BMG_DS006157,Hemiballismus,UMLS ID:C0221169,Hemiballism | Hemiballismus | Body of Luys syndrome | Hemiballismus-hemichorea syndrome | Hemiballism (disorder) | Hemiballism (abnormal involuntary movements),SNOMEDCT ID:66637005,,,,,Dyskinesias,MeSH ID:D020820,,,, +BMGC_DS04207,BMG_DS006159,,UMLS ID:C0221210,,,,,volvulus of midgut,MONDO:0008666,,,,,,OMIM ID:193250 +BMGC_DS04208,BMG_DS006163,Centriacinar Emphysema,UMLS ID:C0221227,,,,,,,Pulmonary Emphysema,MeSH ID:D011656,,,, +BMGC_DS04209,BMG_DS006168,Angular cheilitis,UMLS ID:C0221237,Angular cheilitis | Angular cheilitis (disorder) | Angular cheilitis | Angular stomatitis | Perleche | Angular cheilitis (disorder) | Perlèche | Perlèche | Angular cheilosis | Migrating cheilosis | Intertrigo labialis | Perlèche (disorder) | (Sore lip) or (angular stomatitis &/or cheilitis) | Sore lip | Angular stomatitis and cheilitis | Angular cheilitis | (Sore lip) or (angular stomatitis &/or cheilitis) (disorder),SNOMEDCT ID:200729007 | SNOMEDCT ID:266429005 | SNOMEDCT ID:81670006 | SNOMEDCT ID:155662001 | SNOMEDCT ID:196554004,"Disorder of lips, unspecified",ICD11 ID:DA00.Z,angular cheilitis,MONDO:0000741,,,angular cheilitis,DOID:0060312,ICD10 ID:K13.0,OMIM ID:MTHU051337 +BMGC_DS04210,BMG_DS006169,Mesangial proliferative glomerulonephritis,UMLS ID:C0221238,Mesangial proliferative glomerulonephritis | Mesangial proliferative glomerulonephritis (disorder) | Mesangioproliferative glomerulonephritis,SNOMEDCT ID:35546006,,,mesangial proliferative glomerulonephritis,MONDO:0003139,,,mesangial proliferative glomerulonephritis,DOID:4783,,OMIM ID:MTHU069083 +BMGC_DS04211,BMG_DS006170,Rapidly progressive glomerulonephritis,UMLS ID:C0221239,Idiopathic crescentic glomerulonephritis | Idiopathic crescentic glomerulonephritis (disorder) | Rapidly progressive glomerulonephritis | RPGN - Rapidly progressive glomerulonephritis | Rapidly progressive glomerulonephritis (disorder),SNOMEDCT ID:45406000 | SNOMEDCT ID:236392004,,,rapidly progressive glomerulonephritis,MONDO:0017236,,,rapidly progressive glomerulonephritis,DOID:4776,, +BMGC_DS04212,BMG_DS006173,Seborrheic dermatitis of scalp,UMLS ID:C0221244,Seborrheic dermatitis of scalp | Seborrhoeic dermatitis of scalp | Seborrhoeic dermatitis of scalp (disorder) | Seborrhoeic dermatitis of scalp | Seborrheic dermatitis of scalp | Seborrheic dermatitis of scalp (disorder) | Seborrhoeic eczema of scalp | Seborrhoea capitis | Seborrhea capitis | Seborrheic eczema of scalp | Seborrhoeic dermatitis of scalp | Seborrheic dermatitis of scalp | Seborrhoeic dermatitis of scalp (disorder) | Pityriasis simplex | Pityriasis streptogenes | Scurfiness of scalp | Dandruff | Scurf | Pityriasis capitis | Pityriasis sicca | Seborrhea capitis | Seborrheic dermatitis of scalp | Seborrheic eczema of scalp | Seborrhea sicca | Seborrhoea capitis | Seborrhoea sicca | Seborrhoeic eczema of scalp | Seborrhoeic dermatitis of scalp | Scurfiness of scalp (disorder),SNOMEDCT ID:200763009 | SNOMEDCT ID:156329007 | SNOMEDCT ID:156327009 | SNOMEDCT ID:48596006,,,,,,,seborrheic infantile dermatitis,DOID:8941,, +BMGC_DS04213,BMG_DS006176,Trichiasis,UMLS ID:C0221259,Trichiasis | Trichiasis (disorder) | Malposition of eyelashes | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) | Trichiasis | Wuchereria infestation | Ingrowing hair | Hair/hair follicle disease NOS | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) (disorder) | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) | Ingrowing hair | Wuchereria infestation | Trichiasis | Hair/hair follicle disease NOS | (Hair/hair follicle disease NOS) or (ingrowing hair) or (trichiasis) or (Wuchereria infestation) (disorder) | Entropion &/or trichiasis of eyelid | Trichiasis | Entropion and trichiasis of eyelid | Trichiasis - eyelid | Entropion &/or trichiasis of eyelid (disorder),SNOMEDCT ID:60332004 | SNOMEDCT ID:156412005 | SNOMEDCT ID:267864001 | SNOMEDCT ID:193927000,,,,,Trichiasis,MeSH ID:D058457,,,,OMIM ID:MTHU017606 +BMGC_DS04214,BMG_DS006177,Dystrophia unguium,UMLS ID:C0221260,Dystrophia unguium | Onychodystrophy | Nail dystrophy | Dystrophic nail | Dystrophia unguium (disorder),SNOMEDCT ID:87065009,,,,,,,,,, +BMGC_DS04215,BMG_DS006178,Poliosis,UMLS ID:C0221262,Poliosis | Poliosis (disorder),SNOMEDCT ID:14240001,,,,,,,,,,OMIM ID:MTHU014000 +BMGC_DS04216,BMG_DS006182,Elastosis perforans serpiginosa,UMLS ID:C0221271,Elastosis perforans serpiginosa | Elastosis perforans serpiginosa (disorder) | Elastosis perforans serpiginosa | Elastosis perforans | Perforating elastosis | Elastosis perforans serpiginosa (disorder) | Perforating serpiginous elastosis | Miescher's elastoma | Keratosis follicularis serpiginosa | Perforating elastoma,SNOMEDCT ID:238876005 | SNOMEDCT ID:49428008 | SNOMEDCT ID:201333007,Other specified perforating dermatoses,ICD11 ID:EE70.Y,elastosis perforans serpiginosa,MONDO:0007529,,MeSH ID:C536202,,,ICD10 ID:L87.2,OMIM ID:MTHU015861 | OMIM ID:130100 +BMGC_DS04217,BMG_DS006184,Relative erythrocytosis,UMLS ID:C0221276,Relative polycythemia (disorder) | Relative polycythaemia | Relative polycythemia | Spurious polycythaemia | Benign polycythaemia | Spurious polycythemia | Benign polycythemia | Relative erythrocytosis | Relative erythrocytosis | Relative polycythemia | Benign polycythemia | Spurious polycythemia | Benign polycythemia due to fall in plasma volume | Benign polycythaemia | Benign polycythaemia due to fall in plasma volume | Gaisbock's syndrome | Pseudo-polycythaemia | Relative polycythaemia | Relative erythrocytosis (disorder),SNOMEDCT ID:389147003 | SNOMEDCT ID:35326002,,,,,,,,,, +BMGC_DS04218,BMG_DS006185,,UMLS ID:C0221286,,,,,Paget disease of the penis,MONDO:0002653,,,penis Paget's disease,DOID:3448,, +BMGC_DS04219,BMG_DS006187,"Synovioma, benign",UMLS ID:C0221289,"Synovioma, benign | Synovioma, benign (morphologic abnormality) | Benign synovioma",SNOMEDCT ID:5178002,,,benign synovial neoplasm,MONDO:0024715,,,nodular tenosynovitis,DOID:2701,, +BMGC_DS04220,BMG_DS006188,,UMLS ID:C0221290,,,,,chondromyxoid fibroma,MONDO:0018447,,,,,, +BMGC_DS04221,BMG_DS006190,Hereditary lymphedema and yellow nails,UMLS ID:C0221348,Hereditary lymphedema and yellow nails (disorder) | Hereditary lymphoedema and yellow nails | Hereditary lymphedema and yellow nails | Yellow nail syndrome,SNOMEDCT ID:400211001,,,yellow nail syndrome,MONDO:0007921,,,yellow nail syndrome,DOID:0050468,,OMIM ID:153300 +BMGC_DS04222,BMG_DS006191,,UMLS ID:C0221355,,,,,megalencephaly,MONDO:0016608,,,,,, +BMGC_DS04223,BMG_DS006192,,UMLS ID:C0221357,,,,,brachydactyly,MONDO:0021004,,,,,, +BMGC_DS04224,BMG_DS006193,,UMLS ID:C0221363,,,,,bifid nose,MONDO:0000110,,,,,, +BMGC_DS04225,BMG_DS006204,Non-Bacterial Thrombotic Endocarditis,UMLS ID:C0221390,,,,,marantic endocarditis,MONDO:0000610,"Endocarditis, Non-Infective",MeSH ID:D059905,nonbacterial thrombotic endocarditis,DOID:0060068,, +BMGC_DS04226,BMG_DS006206,Atrophic Vaginitis,UMLS ID:C0221392,,,,,,,Atrophic Vaginitis,MeSH ID:D059268,,,, +BMGC_DS04227,BMG_DS006209,Pituitary cachexia,UMLS ID:C0221405,Pituitary cachexia | Pituitary cachexia (disorder),SNOMEDCT ID:89476005,Hypopituitarism,ICD11 ID:5A61.0,,,,,hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IB | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type III | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090072;DOID:0090087;DOID:0060875;DOID:0090073;DOID:0090076;DOID:0090092;DOID:0060873;DOID:0090080;DOID:0090075;DOID:0090077;DOID:0090071;DOID:0090082;DOID:0090084;DOID:0090074;DOID:0090093;DOID:0060874;DOID:0090078;DOID:0090070;DOID:0090085;DOID:0090094;DOID:0090086;DOID:0090083;DOID:0090081;DOID:0090079;DOID:0090089;DOID:0090090,ICD10 ID:E23.0, +BMGC_DS04228,BMG_DS006210,Pituitary-dependent Cushing's disease,UMLS ID:C0221406,Pituitary dependent hypercortisolism | Pituitary-dependent Cushing's disease | Cushing disease | Pituitary Cushing syndrome | Pituitary dependent Cushing disease | Cushing basophilism | Pituitary hyperadrenal corticism | Cushing's disease | Pituitary-dependent Cushing's disease (disorder),SNOMEDCT ID:190502001,Pituitarydependent Cushing disease,ICD11 ID:5A70.0,Cushing disease due to pituitary adenoma,MONDO:0009050,,,pituitary-dependent Cushing's disease,DOID:3946,ICD10 ID:E24.0,OMIM ID:219090 +BMGC_DS04229,BMG_DS006213,Vitamin D-dependent rickets,UMLS ID:C0221468,Vitamin D-dependent rickets | Vitamin D-dependent rickets (disorder) | VDDR - vitamin D-dependent rickets,SNOMEDCT ID:68295002,,,vitamin D-dependent rickets,MONDO:0024299,,,vitamin D-dependent rickets,DOID:0080883,, +BMGC_DS04230,BMG_DS006215,alpha 1-Antitrypsin Deficiency,UMLS ID:C0221757,,,,,alpha 1-antitrypsin deficiency,MONDO:0013282,alpha 1-Antitrypsin Deficiency,MeSH ID:D019896,alpha 1-antitrypsin deficiency,DOID:13372,,OMIM ID:613490 +BMGC_DS04231,BMG_DS006216,Brachial Plexus Neuritis,UMLS ID:C0221759,,,,,brachial plexus neuritis,MONDO:0006682,Brachial Plexus Neuritis,MeSH ID:D020968,brachial plexus neuritis,DOID:3689,, +BMGC_DS04232,BMG_DS006221,,UMLS ID:C0221777,,,,,nontoxic goiter,MONDO:0001658,,,nontoxic goiter,DOID:13195,, +BMGC_DS04233,BMG_DS006222,,UMLS ID:C0227791,,,,,vaginal discharge,MONDO:0002770,,,vaginal discharge,DOID:3767,, +BMGC_DS04234,BMG_DS006230,Premature aging syndrome,UMLS ID:C0231341,Premature ageing syndrome | Adult premature ageing syndrome | Progeria syndrome | Adult premature aging syndrome | Premature aging syndrome | Progeria | Progeria (disorder) | Premature aging syndrome (disorder) | Premature ageing syndrome | Premature aging syndrome,SNOMEDCT ID:190590004 | SNOMEDCT ID:399959003,,,premature aging syndrome,MONDO:0019303,,,,,, +BMGC_DS04235,BMG_DS006270,Orthostatic proteinuria,UMLS ID:C0232867,Orthostatic proteinuria | Orthostatic proteinuria (disorder) | Orthostatic proteinuria | Orthostatic albuminuria | Postural albuminuria | Benign postural proteinuria | Postural proteinuria | Orthostatic proteinuria (finding),SNOMEDCT ID:155874000 | SNOMEDCT ID:32482005,,,orthostatic proteinuria,MONDO:0004838,,,orthostatic proteinuria,DOID:9617,, +BMGC_DS04236,BMG_DS006298,Primary physiologic amenorrhea,UMLS ID:C0232939,Primary physiologic amenorrhea | Primary physiologic amenorrhoea | Primary physiologic amenorrhea (finding),SNOMEDCT ID:8913004,,,,,,,,,, +BMGC_DS04237,BMG_DS006299,Secondary physiologic amenorrhea,UMLS ID:C0232940,Secondary physiologic amenorrhea | Secondary physiologic amenorrhoea | Secondary physiologic amenorrhea (finding),SNOMEDCT ID:86030004,,,,,,,,,, +BMGC_DS04238,BMG_DS006304,,UMLS ID:C0232981,,,,,spermatogenic failure 4,MONDO:0010052,,,,,,OMIM ID:270960 +BMGC_DS04239,BMG_DS006325,,UMLS ID:C0233711,,,,,animal phobia,MONDO:0003727,,,animal phobia,DOID:600,, +BMGC_DS04240,BMG_DS006327,,UMLS ID:C0233795,,,,,anterograde amnesia,MONDO:0003398,,,anterograde amnesia,DOID:5340,, +BMGC_DS04241,BMG_DS006342,,UMLS ID:C0234166,,,,,hyperekplexia,MONDO:0017658,,,,,, +BMGC_DS04242,BMG_DS006346,"Neuralgia, Atypical",UMLS ID:C0234247,,,,,,,Neuralgia,MeSH ID:D009437,,,, +BMGC_DS04243,BMG_DS006347,"Neuralgia, Stump",UMLS ID:C0234249,,,,,,,Neuralgia,MeSH ID:D009437,,,, +BMGC_DS04244,BMG_DS006355,"Taste Disorder, Primary",UMLS ID:C0234297,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04245,BMG_DS006356,"Taste Disorder, Primary, Sweet",UMLS ID:C0234298,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04246,BMG_DS006357,"Taste Disorder, Primary, Salt",UMLS ID:C0234299,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04247,BMG_DS006358,"Taste Disorder, Primary, Bitter",UMLS ID:C0234300,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04248,BMG_DS006360,"Taste Disorder, Anterior Tongue",UMLS ID:C0234302,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04249,BMG_DS006361,"Taste Disorder, Secondary",UMLS ID:C0234303,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04250,BMG_DS006362,"Taste Disorder, Secondary, Sweet",UMLS ID:C0234304,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04251,BMG_DS006363,"Taste Disorder, Secondary, Salt",UMLS ID:C0234305,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04252,BMG_DS006364,"Taste Disorder, Secondary, Bitter",UMLS ID:C0234306,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04253,BMG_DS006367,"Taste Disorder, Posterior Tongue",UMLS ID:C0234319,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS04254,BMG_DS006370,"Motor Disorder, Vagus Nerve",UMLS ID:C0234329,,,,,,,Vagus Nerve Diseases,MeSH ID:D020421,,,, +BMGC_DS04255,BMG_DS006371,"Sensory Disorder, Vagus Nerve",UMLS ID:C0234331,,,,,,,Vagus Nerve Diseases,MeSH ID:D020421,,,, +BMGC_DS04256,BMG_DS006381,,UMLS ID:C0234398,,,,,visual cortex disorder,MONDO:0003584,,,visual cortex disease,DOID:5691,, +BMGC_DS04257,BMG_DS006395,,UMLS ID:C0234512,,,,,prosopagnosia,MONDO:0003227,,,prosopagnosia,DOID:4970,, +BMGC_DS04258,BMG_DS006396,,UMLS ID:C0234523,,,,,ideomotor apraxia,MONDO:0006800,,,ideomotor apraxia,DOID:4627,, +BMGC_DS04259,BMG_DS006397,Generalized seizures,UMLS ID:C0234533,,,,,,,,,,,,OMIM ID:MTHU009234 +BMGC_DS04260,BMG_DS006399,Clonic Seizures,UMLS ID:C0234535,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS04261,BMG_DS006419,"Vertigo, Brain Stem",UMLS ID:C0234757,,,,,,,Vertigo,MeSH ID:D014717,,,, +BMGC_DS04262,BMG_DS006420,,UMLS ID:C0234894,,,,,acneiform dermatitis,MONDO:0006521,,,acneiform dermatitis,DOID:4399,, +BMGC_DS04263,BMG_DS006421,Annular Erythema,UMLS ID:C0234906,,,,,annular erythema,MONDO:0007128,,MeSH ID:C562461,,,,OMIM ID:106500 +BMGC_DS04264,BMG_DS006426,Simple Partial Seizures,UMLS ID:C0234974,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS04265,BMG_DS006427,Motor cortex epilepsy,UMLS ID:C0234978,Primary motor cortex frontal lobe epilepsy (disorder) | Primary motor cortex frontal lobe epilepsy,SNOMEDCT ID:267592003,,,primary motor cortex epilepsy,MONDO:0041284,,,,,, +BMGC_DS04266,BMG_DS006429,Peripheral motor neuropathy,UMLS ID:C0235025,Motor peripheral neuropathy | Motor neuritis | Peripheral motor neuropathy | Peripheral motor neuropathy (disorder),SNOMEDCT ID:95663000,,,motor nerve neuritis,MONDO:0004004,,,motor neuritis,DOID:683,,OMIM ID:MTHU041529 +BMGC_DS04267,BMG_DS006430,"Neuritis, Sensory",UMLS ID:C0235026,,,,,,,Neuritis,MeSH ID:D009443,,,, +BMGC_DS04268,BMG_DS006431,,UMLS ID:C0235032,,,,,,,,,toxic encephalopathy,DOID:3602,, +BMGC_DS04269,BMG_DS006435,Cycloplegia,UMLS ID:C0235238,Cycloplegia | Paresis of accommodation | Visual accommodation paralysis | Paralysis of accommodation | Cycloplegic paralysis of accommodation | Cycloplegia (disorder) | Loss of accommodation | Ciliary muscle paresis | Accommodative paresis,SNOMEDCT ID:68158006,,,cycloplegia,MONDO:0005555,,,cycloplegia,DOID:10033,, +BMGC_DS04270,BMG_DS006436,Keratopathy,UMLS ID:C0235270,,,,,keratopathy,MONDO:0002261,,,keratopathy,DOID:2283,,OMIM ID:MTHU012241 +BMGC_DS04271,BMG_DS006445,Granulomatous hepatitis,UMLS ID:C0235369,Granulomatous hepatitis | Granulomatous hepatitis (disorder),SNOMEDCT ID:86514004,,,granulomatous hepatitis,MONDO:0002252,,,granulomatous hepatitis,DOID:2239,,OMIM ID:MTHU074778 +BMGC_DS04272,BMG_DS006447,Ketonemia,UMLS ID:C0235430,Ketonemia | Ketonaemia | Ketonemia (disorder) | Ketonaemia | Ketonemia | Ketonemia (disorder),SNOMEDCT ID:45317003 | SNOMEDCT ID:213281004,,,,,Ketosis,MeSH ID:D007662,,,,OMIM ID:MTHU012717 +BMGC_DS04273,BMG_DS006451,Paroxysmal atrial fibrillation,UMLS ID:C0235480,Paroxysmal atrial fibrillation | Paroxysmal atrial fibrillation (disorder) | AF - Paroxysmal atrial fibrillation | PAF - Paroxysmal atrial fibrillation | Intermittent atrial fibrillation | Paroxysmal atrial fibrillation | Paroxysmal atrial fibrillation (disorder),SNOMEDCT ID:195081002 | SNOMEDCT ID:282825002,Paroxysmal atrial fibrillation,ICD11 ID:BC81.30,paroxysmal atrial fibrillation,MONDO:1030011,,,,,ICD10 ID:I48.0,OMIM ID:MTHU046471 +BMGC_DS04274,BMG_DS006453,,UMLS ID:C0235490,,,,,peripheral ischemia,MONDO:0041114,,,,,, +BMGC_DS04275,BMG_DS006458,"Heart Failure, Right-Sided",UMLS ID:C0235527,,,,,,,Heart Failure,MeSH ID:D006333,,,, +BMGC_DS04276,BMG_DS006463,Submandibular lymphadenitis,UMLS ID:C0235591,Submandibular lymphadenitis | Submandibular lymphadenitis (disorder) | Submandibular adenitis,SNOMEDCT ID:15170009,,,submandibular adenitis,MONDO:0003066,,,submandibular adenitis,DOID:4636,, +BMGC_DS04277,BMG_DS006464,Cervical lymphadenopathy,UMLS ID:C0235592,Cervical lymphadenopathy | Cervical lymphadenopathy (disorder),SNOMEDCT ID:127086001,,,,,,,,,,OMIM ID:MTHU033335 +BMGC_DS04278,BMG_DS006466,,UMLS ID:C0235604,,,,,qualitative platelet defect,MONDO:0001197,,,qualitative platelet defect,DOID:11125,, +BMGC_DS04279,BMG_DS006467,Proliferative glomerulonephritis,UMLS ID:C0235618,Proliferative glomerulonephritis | Proliferative glomerulonephritis (disorder),SNOMEDCT ID:441815006,,,proliferative glomerulonephritis,MONDO:0003134,,,proliferative glomerulonephritis,DOID:4778,, +BMGC_DS04280,BMG_DS006471,,UMLS ID:C0235754,,,,,urothelial papilloma,MONDO:0004041,,,bladder transitional cell papilloma,DOID:6933,, +BMGC_DS04281,BMG_DS006473,,UMLS ID:C0235770,,,,,malignant ovarian cyst,MONDO:0002224,,,malignant ovarian cyst,DOID:2145,, +BMGC_DS04282,BMG_DS006474,,UMLS ID:C0235782,,,,,gallbladder carcinoma,MONDO:0003220,,,gallbladder carcinoma,DOID:4948,, +BMGC_DS04283,BMG_DS006476,,UMLS ID:C0235813,,,,,neonatal leukemia,MONDO:0004354,,,neonatal leukemia,DOID:7756,, +BMGC_DS04284,BMG_DS006477,Neonatal urinary tract infection,UMLS ID:C0235815,Neonatal urinary tract infection | Neonatal urinary tract infection (disorder),SNOMEDCT ID:12301009,Neonatal urinary tract infection,ICD11 ID:KA65.2,neonatal urinary tract infectious disease,MONDO:0001791,,,neonatal urinary tract infectious disease,DOID:1375,ICD10 ID:P39.3, +BMGC_DS04285,BMG_DS006478,Neonatal encephalopathy,UMLS ID:C0235820,Neonatal encephalopathy | Neonatal encephalopathy (disorder),SNOMEDCT ID:95628005,,,,,,,,,ICD10 ID:P91.81, +BMGC_DS04286,BMG_DS006479,,UMLS ID:C0235833,,,,,congenital diaphragmatic hernia,MONDO:0005711,,,,,, +BMGC_DS04287,BMG_DS006481,Neonatal diarrhea,UMLS ID:C0235840,(Neonatal diarrhea) or (neonatal chloridorrhea) | Neonatal chloridorrhea | Neonatal diarrhea | Neonatal chloridorrhoea | Neonatal diarrhoea | (Neonatal diarrhoea) or (neonatal chloridorrhoea) | (Neonatal diarrhoea) or (neonatal chloridorrhoea) (disorder) | Neonatal diarrhoea | Neonatal diarrhea | Neonatal diarrhea (disorder),SNOMEDCT ID:206534003 | SNOMEDCT ID:268850004,,,,,,,,,,OMIM ID:MTHU013422 +BMGC_DS04288,BMG_DS006485,,UMLS ID:C0235864,,,,,hypertrichosis lanuginosa congenita,MONDO:0016381,,,,,,OMIM ID:145700 +BMGC_DS04289,BMG_DS006486,Mononeuritis,UMLS ID:C0235880,Mononeuritis | Mononeuritis (disorder),SNOMEDCT ID:32595002,,,mononeuritis simplex,MONDO:0002121,Mononeuropathies,MeSH ID:D020422,mononeuritis,DOID:1802,, +BMGC_DS04290,BMG_DS006493,Cerebral atrophy,UMLS ID:C0235946,Cerebral degeneration: [NOS] or [cerebral atrophy] | Cerebral degeneration NOS | Cerebral atrophy | Cerebral degeneration: [NOS] or [cerebral atrophy] (disorder) | Cerebral atrophy | Cerebral atrophy (disorder),SNOMEDCT ID:192824002 | SNOMEDCT ID:278849000,,,,,,,,,,OMIM ID:MTHU000199 +BMGC_DS04291,BMG_DS006494,Zinc deficiency,UMLS ID:C0235950,Zinc deficiency | Zinc deficiency (disorder),SNOMEDCT ID:367102002 | SNOMEDCT ID:238124008,,,,,,,,,,OMIM ID:MTHU056020 +BMGC_DS04292,BMG_DS006495,Clostridium difficile diarrhea,UMLS ID:C0235952,Clostridium difficile diarrhea | Clostridium difficile diarrhoea | Clostridium difficile diarrhea (disorder),SNOMEDCT ID:5891000119102,,,,,,,,,, +BMGC_DS04293,BMG_DS006498,,UMLS ID:C0235974,,,,,exocrine pancreatic carcinoma,MONDO:0005192,,,pancreatic carcinoma,DOID:4905,, +BMGC_DS04294,BMG_DS006503,Fetal valproate syndrome,UMLS ID:C0236026,Fetal valproate syndrome | Fetal valproate syndrome (disorder) | Foetal valproate spectrum disorder | Fetal valproate spectrum disorder | Fetal valproate syndrome | Fetal valproate syndrome (disorder),SNOMEDCT ID:17231009 | SNOMEDCT ID:205792006,,,fetal valproate syndrome,MONDO:0012275,,MeSH ID:C536525,fetal valproate syndrome,DOID:0060471,,OMIM ID:609442 +BMGC_DS04295,BMG_DS006505,Congenital hearing disorder,UMLS ID:C0236038,Congenital hearing disorder | Congenital hearing disorder (disorder),SNOMEDCT ID:95827002,,,,,,,,,, +BMGC_DS04296,BMG_DS006506,"Polyposis, Gastric",UMLS ID:C0236048,,,,,stomach polyp,MONDO:0008277,,MeSH ID:C562464,,,, +BMGC_DS04297,BMG_DS006512,Gastrointestinal obstruction,UMLS ID:C0236124,Gastrointestinal obstruction | Gastrointestinal obstruction (disorder),SNOMEDCT ID:126765001,,,,,,,,,,OMIM ID:MTHU023933 +BMGC_DS04298,BMG_DS006514,Pick Disease of the Brain,UMLS ID:C0236642,,,,,Pick disease,MONDO:0008243,Pick Disease of the Brain,MeSH ID:D020774,Pick's disease,DOID:11870,,OMIM ID:172700 +BMGC_DS04299,BMG_DS006516,Alcohol withdrawal syndrome,UMLS ID:C0236663,Other alcoholic psychoses | Korsakov psychosis | Alcohol withdrawal syndrome | Withdrawal syndrome - alcohol | Korsakov's psychosis | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) (disorder) | Other alcoholic psychoses | Alcohol withdrawal syndrome | Korsakov psychosis | Withdrawal syndrome - alcohol | Korsakov's psychosis | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) | (Alcoholic psychosis: [Korsakov's] or [other]) or (withdrawal syndrome - alcohol) (disorder) | Alcohol withdrawal syndrome | Alcohol withdrawal syndrome (disorder) | Alcohol withdrawal,SNOMEDCT ID:268745002 | SNOMEDCT ID:154854002 | SNOMEDCT ID:191480000,,,alcohol withdrawal,MONDO:0005433,,,,,, +BMGC_DS04300,BMG_DS006517,Alcohol Related Disorders,UMLS ID:C0236664,,,,,alcohol-related disorders,MONDO:0021698,Alcohol-Related Disorders,MeSH ID:D019973,,,, +BMGC_DS04301,BMG_DS006519,Cannabis-Related Disorder,UMLS ID:C0236735,,,,,,,Marijuana Abuse,MeSH ID:D002189,,,, +BMGC_DS04302,BMG_DS006520,,UMLS ID:C0236773,,,,,,,,,bipolar I disorder,DOID:14042,, +BMGC_DS04303,BMG_DS006521,,UMLS ID:C0236780,,,,,,,,,bipolar disorder,DOID:3312,, +BMGC_DS04304,BMG_DS006522,,UMLS ID:C0236788,,,,,bipolar II disorder,MONDO:0000693,,,,,, +BMGC_DS04305,BMG_DS006523,,UMLS ID:C0236791,,,,,childhood disintegrative disorder,MONDO:0015681,,,childhood disintegrative disease,DOID:13487,, +BMGC_DS04306,BMG_DS006524,,UMLS ID:C0236792,,,,,Asperger syndrome,MONDO:0005259,,,Asperger syndrome,DOID:0050432,, +BMGC_DS04307,BMG_DS006526,,UMLS ID:C0236795,,,,,dissociative amnesia,MONDO:0001185,,,dissociative amnesia,DOID:11037,, +BMGC_DS04308,BMG_DS006528,,UMLS ID:C0236801,,,,,specific phobia,MONDO:0012000,,,specific phobia,DOID:599,,OMIM ID:608251 +BMGC_DS04309,BMG_DS006531,Chronobiology Disorders,UMLS ID:C0236811,,,,,,,Chronobiology Disorders,MeSH ID:D021081,,,, +BMGC_DS04310,BMG_DS006533,,UMLS ID:C0236826,,,,,expressive language disorder,MONDO:0001276,,,expressive language disorder,DOID:11385,, +BMGC_DS04311,BMG_DS006534,,UMLS ID:C0236827,,,,,mixed receptive-expressive language disorder,MONDO:0001568,,,mixed receptive-expressive language disorder,DOID:12685,, +BMGC_DS04312,BMG_DS006535,Neuroleptic-induced parkinsonism,UMLS ID:C0236830,Neuroleptic-induced parkinsonism | Parkinsonism caused by neuroleptic drug (disorder) | Parkinsonism caused by neuroleptic drug,SNOMEDCT ID:72820004,,,,,,,,,, +BMGC_DS04313,BMG_DS006542,,UMLS ID:C0236969,,,,,substance-related disorder,MONDO:0002494,,,substance-related disorder,DOID:303,, +BMGC_DS04314,BMG_DS006543,Alcohol-Induced Disorders,UMLS ID:C0236970,,,,,alcohol-induced disorders,MONDO:0021699,Alcohol-Induced Disorders,MeSH ID:D020751,,,, +BMGC_DS04315,BMG_DS006545,,UMLS ID:C0237020,,,,,dermoid cyst of ovary,MONDO:0008167,,,dermoid cyst of ovary,DOID:5117,,OMIM ID:166950 +BMGC_DS04316,BMG_DS006547,Gastrointestinal ulcer,UMLS ID:C0237938,Gastrointestinal ulcer | Gastrointestinal ulcer (disorder),SNOMEDCT ID:40845000,,,,,,,,,, +BMGC_DS04317,BMG_DS006551,Toxic amblyopia,UMLS ID:C0237979,Toxic amblyopia | Toxic amblyopia (disorder),SNOMEDCT ID:965003,,,toxic amblyopia,MONDO:0041403,,,,,, +BMGC_DS04318,BMG_DS006552,Glucose-6-phosphate dehydrogenase deficiency anemia,UMLS ID:C0237987,Glucose-6-phosphate dehydrogenase deficiency anemia | Glucose-6-phosphate dehydrogenase deficiency anaemia | Glucose-6-phosphate dehydrogenase deficiency anemia (disorder) | Glucose-6-phosphate dehydrogenase deficiency anemia | G-6-PD deficiency anemia | Glucose-6-phosphate dehydrogenase deficiency | G6PD deficiency anemia | G-6-PD deficiency anaemia | G6PD deficiency anaemia | Glucose-6-phosphate dehydrogenase deficiency anaemia | Glucose-6-phosphate dehydrogenase deficiency anemia (disorder),SNOMEDCT ID:191171008 | SNOMEDCT ID:62403005,,,,,,,,,, +BMGC_DS04319,BMG_DS006554,,UMLS ID:C0238003,,,,,appendix adenocarcinoma,MONDO:0006087,,,appendix adenocarcinoma,DOID:3608,, +BMGC_DS04320,BMG_DS006556,Invasive aspergillosis,UMLS ID:C0238013,Invasive aspergillosis (disorder) | Invasive aspergillosis,SNOMEDCT ID:721798004,,,invasive aspergillosis,MONDO:0000240,,,,,, +BMGC_DS04321,BMG_DS006558,Autonomic Dysreflexia,UMLS ID:C0238015,,,,,autonomic dysreflexia,MONDO:0043975,Autonomic Dysreflexia,MeSH ID:D020211,,,, +BMGC_DS04322,BMG_DS006559,,UMLS ID:C0238016,,,,,Bartholin gland adenocarcinoma,MONDO:0003853,,,Bartholin's gland adenocarcinoma,DOID:6316,, +BMGC_DS04323,BMG_DS006560,,UMLS ID:C0238019,,,,,extrahepatic bile duct carcinoma,MONDO:0003090,,,extrahepatic bile duct carcinoma,DOID:4682,, +BMGC_DS04324,BMG_DS006561,"Botulism, Infantile",UMLS ID:C0238027,,,,,infant botulism,MONDO:0015804,Botulism,MeSH ID:D001906,,,, +BMGC_DS04325,BMG_DS006562,,UMLS ID:C0238029,,,,,ependymal tumor of brain,MONDO:0004245,,,brain ependymoma,DOID:7497,, +BMGC_DS04326,BMG_DS006563,,UMLS ID:C0238031,,,,,breast phyllodes tumor,MONDO:0021047,,,breast malignant phyllodes tumor,DOID:3016,, +BMGC_DS04327,BMG_DS006565,,UMLS ID:C0238034,,,,,intraductal breast papilloma,MONDO:0021097,,,breast duct papilloma,DOID:1626,, +BMGC_DS04328,BMG_DS006567,Concentric hypertrophic cardiomyopathy,UMLS ID:C0238044,,,,,,,,,,,,OMIM ID:MTHU068797 +BMGC_DS04329,BMG_DS006570,Cerebral Angiitis,UMLS ID:C0238051,,,,,,,"Vasculitis, Central Nervous System",MeSH ID:D020293,,,, +BMGC_DS04330,BMG_DS006571,"Xanthomatosis, Cerebrotendinous",UMLS ID:C0238052,,,,,cerebrotendinous xanthomatosis,MONDO:0008948,"Xanthomatosis, Cerebrotendinous",MeSH ID:D019294,cerebrotendinous xanthomatosis,DOID:4810,,OMIM ID:213700 +BMGC_DS04331,BMG_DS006572,"Chorea, Senile",UMLS ID:C0238056,,,,,,,Chorea,MeSH ID:D002819,,,, +BMGC_DS04332,BMG_DS006574,Chronic intestinal pseudo-obstruction,UMLS ID:C0238062,Chronic intestinal pseudo-obstruction | Chronic intestinal pseudo-obstruction (disorder),SNOMEDCT ID:235828008,,,chronic intestinal pseudoobstruction,MONDO:0017574,,,,,, +BMGC_DS04333,BMG_DS006575,Secondary Biliary Cholangitis,UMLS ID:C0238065,,,,,,,"Liver Cirrhosis, Biliary",MeSH ID:D008105,,,, +BMGC_DS04334,BMG_DS006576,"Colitis, Collagenous",UMLS ID:C0238067,,,,,collagenous colitis,MONDO:0000703,"Colitis, Collagenous",MeSH ID:D046729,collagenous colitis,DOID:0060183,, +BMGC_DS04335,BMG_DS006578,Cranial Epidural Abscess,UMLS ID:C0238075,,,,,,,Epidural Abscess,MeSH ID:D020802,,,, +BMGC_DS04336,BMG_DS006582,Acute endometritis,UMLS ID:C0238103,Acute endometritis | Acute endometritis (disorder),SNOMEDCT ID:155976002 | SNOMEDCT ID:67667007,,,acute endometritis,MONDO:0004265,,,acute endometritis,DOID:7528,, +BMGC_DS04337,BMG_DS006586,Lennox-Gastaut syndrome,UMLS ID:C0238111,Lennox-Gastaut syndrome | Lennox-Gastaut syndrome (disorder) | Cutis verticis gyrata | Cutis verticis gyrata (disorder),SNOMEDCT ID:192984003 | SNOMEDCT ID:75036009 | SNOMEDCT ID:51603000 | SNOMEDCT ID:230418006,,,Lennox-Gastaut syndrome,MONDO:0016532,,,,,ICD10 ID:G40.81,OMIM ID:606369 | OMIM ID:MTHU071842 +BMGC_DS04338,BMG_DS006590,Eunuchism,UMLS ID:C0238117,(Eunuchism) or (Kallman's syndrome) | Kallman's syndrome | Eunuchism | Kallmann's syndrome | Eunuchism | Eunuchism (disorder),SNOMEDCT ID:190559001 | SNOMEDCT ID:267403002,,,eunuchism,MONDO:0005758,Eunuchism,MeSH ID:D005058,eunuchism,DOID:5003,, +BMGC_DS04339,BMG_DS006592,,UMLS ID:C0238122,,,,,fallopian tube carcinoma,MONDO:0006206,,,fallopian tube carcinoma,DOID:1963,, +BMGC_DS04340,BMG_DS006593,Necrotizing fasciitis,UMLS ID:C0238124,Necrotizing fasciitis | Necrotising fasciitis | Necrotising fasciitis (disorder) | Necrotizing fasciitis | Necrotising fasciitis | Necrotizing fasciitis (disorder),SNOMEDCT ID:186428007 | SNOMEDCT ID:52486002,"Necrotising fasciitis, unspecified",ICD11 ID:1B71.Z,necrotizing fasciitis,MONDO:0004835,,,necrotizing fasciitis,DOID:9602,ICD10 ID:M72.6, +BMGC_DS04341,BMG_DS006597,,UMLS ID:C0238143,,,,,focal embolic glomerulonephritis,MONDO:0003135,,,focal embolic glomerulonephritis,DOID:4779,, +BMGC_DS04342,BMG_DS006599,,UMLS ID:C0238152,,,,,heart sarcoma,MONDO:0003354,,,heart sarcoma,DOID:5262,, +BMGC_DS04343,BMG_DS006602,Hemoglobin E disease,UMLS ID:C0238159,Hemoglobin E disease | Hemoglobin E-E disease | Haemoglobin E-E disease | Haemoglobin E disease | Homozygous for Hb E | Hemoglobin E disease (disorder),SNOMEDCT ID:25065001,,,hemoglobin E disease,MONDO:0016243,,,hemoglobin E disease,DOID:5379,, +BMGC_DS04344,BMG_DS006608,"Myositis, Inclusion Body",UMLS ID:C0238190,,,,,inclusion body myositis,MONDO:0007827,"Myositis, Inclusion Body",MeSH ID:D018979,inclusion body myositis,DOID:3429,,OMIM ID:147421 +BMGC_DS04345,BMG_DS006609,,UMLS ID:C0238196,,,,,small intestine carcinoma,MONDO:0005522,,,small intestine carcinoma,DOID:4907,, +BMGC_DS04346,BMG_DS006610,,UMLS ID:C0238197,,,,,small intestine leiomyoma,MONDO:0002092,,,small intestine leiomyoma,DOID:1738,, +BMGC_DS04347,BMG_DS006611,,UMLS ID:C0238198,,,,,gastrointestinal stromal tumor,MONDO:0011719,,,gastrointestinal stromal tumor,DOID:9253,,OMIM ID:606764 +BMGC_DS04348,BMG_DS006612,,UMLS ID:C0238208,,,,,kidney fibrosarcoma,MONDO:0003720,,,kidney fibrosarcoma,DOID:5982,, +BMGC_DS04349,BMG_DS006616,,UMLS ID:C0238246,,,,,liver hemangioma,MONDO:0002404,,,hemangioma of liver,DOID:271,, +BMGC_DS04350,BMG_DS006618,Lymphedema praecox,UMLS ID:C0238261,Adolescent lymphedema | Infantile lymphedema (praecox) | Lymphedema praecox | Adolescent lymphoedema | Lymphoedema praecox | Infantile lymphoedema (praecox) | Adolescent lymphedema (disorder) | Hereditary lymphedema type II (disorder) | Hereditary lymphoedema type II | Hereditary lymphedema type II | Meige lymphoedema | Meige lymphedema | Meige disease | Lymphedema praecox | Lymphoedema praecox | Lymphedema praecox (disorder),SNOMEDCT ID:234098006 | SNOMEDCT ID:400040008 | SNOMEDCT ID:77123007,,,,,,,hereditary lymphedema II,DOID:0070213,, +BMGC_DS04351,BMG_DS006619,Marchiafava-Bignami Disease,UMLS ID:C0238265,,,,,Marchiafava-Bignami disease,MONDO:0016370,Marchiafava-Bignami Disease,MeSH ID:D054319,,,, +BMGC_DS04352,BMG_DS006622,Middle Cerebral Artery Syndrome,UMLS ID:C0238281,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS04353,BMG_DS006624,Mucolipidosis Type IV,UMLS ID:C0238286,,,,,mucolipidosis type IV,MONDO:0009653,Mucolipidoses,MeSH ID:D009081,,,,OMIM ID:252650 +BMGC_DS04354,BMG_DS006625,"Muscular Dystrophy, Facioscapulohumeral",UMLS ID:C0238288,,,,,facioscapulohumeral muscular dystrophy,MONDO:0001347,"Muscular Dystrophy, Facioscapulohumeral",MeSH ID:D020391,facioscapulohumeral muscular dystrophy,DOID:11727,, +BMGC_DS04355,BMG_DS006626,Myxedema coma,UMLS ID:C0238298,Myxoedema coma | Myxedema coma | Myxoedema coma (disorder) | Myxedema coma | Myxoedema coma | Myxedema coma (disorder) | Hypothyroid coma,SNOMEDCT ID:190292006 | SNOMEDCT ID:21263006,Myxoedema coma,ICD11 ID:5A00.21,,,,,,,ICD10 ID:E03.5, +BMGC_DS04356,BMG_DS006627,,UMLS ID:C0238301,,,,,,,,,nasopharynx carcinoma,DOID:9261,, +BMGC_DS04357,BMG_DS006630,Ischemic peripheral neuropathy,UMLS ID:C0238309,Ischemic peripheral neuropathy | Ischaemic peripheral neuropathy | Ischemic peripheral neuropathy (disorder),SNOMEDCT ID:129611009,,,ischemic neuropathy,MONDO:0001408,,,ischemic neuropathy,DOID:1195,, +BMGC_DS04358,BMG_DS006632,,UMLS ID:C0238324,,,,,ovarian germ cell tumor,MONDO:0011366,,,ovarian germ cell cancer,DOID:2156,,OMIM ID:603737 +BMGC_DS04359,BMG_DS006633,,UMLS ID:C0238330,,,,,scrotum Paget disease,MONDO:0002649,,,scrotum Paget's disease,DOID:3444,, +BMGC_DS04360,BMG_DS006635,,UMLS ID:C0238337,,,,,pancreatic cystadenocarcinoma,MONDO:0002867,,,pancreatic cystadenocarcinoma,DOID:4073,, +BMGC_DS04361,BMG_DS006636,Hereditary pancreatitis,UMLS ID:C0238339,Hereditary pancreatitis | Hereditary pancreatitis (disorder),SNOMEDCT ID:68072000,,,hereditary chronic pancreatitis,MONDO:0008185,,MeSH ID:C537262,,,,OMIM ID:167800 +BMGC_DS04362,BMG_DS006638,,UMLS ID:C0238348,,,,,squamous cell carcinoma of penis,MONDO:0018352,,,penis squamous cell carcinoma,DOID:5518,, +BMGC_DS04363,BMG_DS006641,,UMLS ID:C0238352,,,,,penile sarcoma,MONDO:0001387,,,penis sarcoma,DOID:11838,, +BMGC_DS04364,BMG_DS006643,Hyperkalemic periodic paralysis,UMLS ID:C0238357,Familial hyperkalemic periodic paralysis | Familial hyperkalaemic periodic paralysis | Familial hyperkalemic periodic paralysis (disorder) | Familial hyperkalaemic periodic paralysis | Myotonic periodic paralysis | Adynamia episodica hereditaria | Gamstorp disease | Hyperkalaemic periodic paralysis | Familial hyperkalemic periodic paralysis | Hyperkalemic periodic paralysis | Hyperkalemic periodic paralysis (disorder) | Periodic paralysis II | Familial hyperkalemic periodic paralysis (disorder) | Familial hyperkalemic periodic paralysis | Hyperkalemic periodic paralysis | Familial hyperkalaemic periodic paralysis | Adynamia episodica hereditaria | Gamstorp disease | Hyperkalaemic periodic paralysis,SNOMEDCT ID:15973007 | SNOMEDCT ID:278513006 | SNOMEDCT ID:304737009,,,hyperkalemic periodic paralysis,MONDO:0008224,,,hyperkalemic periodic paralysis,DOID:14451,,OMIM ID:170500 +BMGC_DS04365,BMG_DS006644,Hypokalemic periodic paralysis,UMLS ID:C0238358,Familial hypokalaemic periodic paralysis | Familial hypokalemic periodic paralysis | Hypokalemic periodic paralysis | Hypokalaemic periodic paralysis | Hypokalemic periodic paralysis (disorder) | Familial hypokalemic periodic paralysis | Hypokalemic periodic paralysis | Hypokalaemic periodic paralysis | Periodic paralysis I | Familial hypokalaemic periodic paralysis | Familial hypokalemic periodic paralysis (disorder) | HOKPP - hypokalemic periodic paralysis | HOKPP - hypokalaemic periodic paralysis,SNOMEDCT ID:240093008 | SNOMEDCT ID:82732003,,,hypokalemic periodic paralysis,MONDO:0008223,,,hypokalemic periodic paralysis,DOID:14452,, +BMGC_DS04366,BMG_DS006650,Pneumoconiosis caused by talc,UMLS ID:C0238377,Talcosis | Pulmonary talcosis | Talc lung disease | Talc pneumoconiosis | Talc workers' pneumoconiosis | Pneumoconiosis caused by talc (disorder) | Pneumoconiosis caused by talc,SNOMEDCT ID:73144008,,,pneumoconiosis due to talc,MONDO:0001003,,,pulmonary talcosis,DOID:10329,, +BMGC_DS04367,BMG_DS006651,Desquamative interstitial pneumonia,UMLS ID:C0238378,Desquamative interstitial pneumonia | Desquamative interstitial pneumonitis | Desquamative interstitial pneumonitis (disorder),SNOMEDCT ID:8549006,,,desquamative interstitial pneumonia,MONDO:0009887,,,desquamative interstitial pneumonia,DOID:0050158,ICD10 ID:J84.117,OMIM ID:263000 +BMGC_DS04368,BMG_DS006652,,UMLS ID:C0238393,,,,,prostate sarcoma,MONDO:0002854,,,prostate sarcoma,DOID:4054,, +BMGC_DS04369,BMG_DS006653,Pycnodysostosis,UMLS ID:C0238402,Pycnodysostosis | Pycnodysostosis (disorder),SNOMEDCT ID:190939007,,,pycnodysostosis,MONDO:0009940,Pycnodysostosis,MeSH ID:D058631,pycnodysostosis,DOID:0080038,,OMIM ID:265800 +BMGC_DS04370,BMG_DS006655,,UMLS ID:C0238409,,,,,renal pelvis squamous cell carcinoma,MONDO:0003497,,,renal pelvis squamous cell carcinoma,DOID:5534,, +BMGC_DS04371,BMG_DS006659,Selenium deficiency,UMLS ID:C0238421,Selenium deficiency | Selenium deficiency (disorder),SNOMEDCT ID:83920001,,,,,,,,,, +BMGC_DS04372,BMG_DS006660,Hemoglobin SS disease with crisis,UMLS ID:C0238425,Hemoglobin SS disease with crisis (disorder) | Hemoglobin SS disease with crisis | Haemoglobin SS disease with crisis | Sickle cell crisis | Sickle cell anemia with crisis | Sickle cell anaemia with crisis,SNOMEDCT ID:417425009,,,,,,,,,, +BMGC_DS04373,BMG_DS006661,,UMLS ID:C0238432,,,,,spinal cord ependymoma,MONDO:0003473,,,spinal cord ependymoma,DOID:5503,, +BMGC_DS04374,BMG_DS006662,"Epidural Abscess, Spinal",UMLS ID:C0238434,,,,,,,Epidural Abscess,MeSH ID:D020802,,,, +BMGC_DS04375,BMG_DS006667,,UMLS ID:C0238448,,,,,testicular embryonal carcinoma,MONDO:0006446,,,embryonal testis carcinoma,DOID:5680,, +BMGC_DS04376,BMG_DS006668,,UMLS ID:C0238449,,,,,choriocarcinoma of testis,MONDO:0003508,,,choriocarcinoma of the testis,DOID:5551,, +BMGC_DS04377,BMG_DS006670,Cavernous Sinus Thrombosis,UMLS ID:C0238454,,,,,cavernous sinus thrombosis,MONDO:0002694,Cavernous Sinus Thrombosis,MeSH ID:D020226,cavernous sinus thrombosis,DOID:3575,, +BMGC_DS04378,BMG_DS006672,,UMLS ID:C0238461,,,,,thyroid gland undifferentiated (anaplastic) carcinoma,MONDO:0006468,,,,,, +BMGC_DS04379,BMG_DS006673,,UMLS ID:C0238462,,,,,medullary thyroid gland carcinoma,MONDO:0015277,,,medullary thyroid carcinoma,DOID:3973,, +BMGC_DS04380,BMG_DS006674,,UMLS ID:C0238463,,,,,thyroid gland papillary carcinoma,MONDO:0005075,,,papillary thyroid carcinoma,DOID:3969,, +BMGC_DS04381,BMG_DS006677,Transient erythroblastopenia of childhood,UMLS ID:C0238478,Transient erythroblastopenia of childhood | TEC - Transient erythroblastopenia of childhood | Transient erythroblastopenia of childhood (disorder),SNOMEDCT ID:234375006,,,transient erythroblastopenia of childhood,MONDO:0009197,,MeSH ID:C536980,,,,OMIM ID:227050 +BMGC_DS04382,BMG_DS006678,Prolapse of urethra,UMLS ID:C0238502,Prolapse of urethra | Urethrocele | Prolapse of urethra (disorder) | Urethrocoele,SNOMEDCT ID:12068006,,,prolapse of urethra,MONDO:0001514,,,prolapse of urethra,DOID:12369,, +BMGC_DS04383,BMG_DS006679,,UMLS ID:C0238506,,,,,posterior urethral valve,MONDO:0019640,,,,,, +BMGC_DS04384,BMG_DS006681,,UMLS ID:C0238519,,,,,vagina sarcoma,MONDO:0002140,,,vagina sarcoma,DOID:1901,, +BMGC_DS04385,BMG_DS006682,,UMLS ID:C0238525,,,,,vulva sarcoma,MONDO:0005214,,,vulvar sarcoma,DOID:2096,, +BMGC_DS04386,BMG_DS006683,Infection by Yersinia enterocolitica,UMLS ID:C0238528,Infection by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica (disorder),SNOMEDCT ID:80960004,,,,,,,,,, +BMGC_DS04387,BMG_DS006684,Acrogeria,UMLS ID:C0238590,Acrogeria | Gottron's syndrome | Acrogeria (disorder),SNOMEDCT ID:238872007,,,,,,,,,,OMIM ID:MTHU070473 +BMGC_DS04388,BMG_DS006685,Aminoaciduria,UMLS ID:C0238621,"Aminoaciduria | Aminoaciduria (finding) | (Urine amino acids) or (aminoaciduria) | Amino-acids, urine | Aminoaciduria | Urine amino acids | (Urine amino acids) or (aminoaciduria) (procedure) | Aminoaciduria | Aminoaciduria (disorder)",SNOMEDCT ID:275781001 | SNOMEDCT ID:167535000 | SNOMEDCT ID:35912001,,,,,,,,,,OMIM ID:MTHU000661 +BMGC_DS04389,BMG_DS006689,,UMLS ID:C0238814,,,,,brain hemangioma,MONDO:0003428,,,brain angioma,DOID:5393,, +BMGC_DS04390,BMG_DS006695,Conjunctival telangiectasis,UMLS ID:C0239105,Conjunctival telangiectasis | Conjunctival telangiectasis (disorder),SNOMEDCT ID:231870008,,,,,,,,,, +BMGC_DS04391,BMG_DS006697,Candidiasis of the esophagus,UMLS ID:C0239295,Candidiasis of the esophagus | Candidiasis of the oesophagus | Candidiasis of the esophagus (disorder) | Candidiasis of oesophagus | Oesophageal thrush | Candidosis of oesophagus | Esophageal thrush | Candidosis of esophagus | Candidiasis of esophagus | Candida of esophagus,SNOMEDCT ID:20639004,,,esophageal candidiasis,MONDO:0001648,,,esophageal candidiasis,DOID:13146,, +BMGC_DS04392,BMG_DS006705,"Color Blindness, Green",UMLS ID:C0239777,,,,,,,Color Vision Defects,MeSH ID:D003117,,,, +BMGC_DS04393,BMG_DS006708,Harlequin Fetus,UMLS ID:C0239849,,,,,,,"Ichthyosis, Lamellar",MeSH ID:D017490,,,, +BMGC_DS04394,BMG_DS006709,"Fibrosis, Liver",UMLS ID:C0239946,,,,,,,Liver Cirrhosis,MeSH ID:D008103,,,, +BMGC_DS04395,BMG_DS006710,Hypoalbuminemia,UMLS ID:C0239981,Hypoalbuminemia | Hypoalbuminaemia | Serum albumin low | Hypoalbuminemia (disorder),SNOMEDCT ID:119247004,,,,,Hypoalbuminemia,MeSH ID:D034141,,,,OMIM ID:MTHU000014 +BMGC_DS04396,BMG_DS006711,,UMLS ID:C0240063,,,,,coloboma of iris,MONDO:0020356,,,,,, +BMGC_DS04397,BMG_DS006714,,UMLS ID:C0240164,,,,,larynx squamous papilloma,MONDO:0000935,,,larynx squamous papilloma,DOID:10071,, +BMGC_DS04398,BMG_DS006718,Rotary Nystagmus,UMLS ID:C0240595,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS04399,BMG_DS006723,,UMLS ID:C0240803,,,,,cerebral lymphoma,MONDO:0003655,,,cerebral lymphoma,DOID:5815,, +BMGC_DS04400,BMG_DS006725,Rheumatoid Vasculitis,UMLS ID:C0240903,,,,,rheumatoid vasculitis,MONDO:0043267,Rheumatoid Vasculitis,MeSH ID:D056653,,,, +BMGC_DS04401,BMG_DS006726,,UMLS ID:C0240912,,,,,congenital vertical talus,MONDO:0008652,,,congenital vertical talus,DOID:0111568,,OMIM ID:192950 +BMGC_DS04402,BMG_DS006727,,UMLS ID:C0240991,,,,,sensory ataxia,MONDO:0100311,,,,,, +BMGC_DS04403,BMG_DS006728,,UMLS ID:C0241005,,,,,"creatine phosphokinase, elevated serum",MONDO:0007402,,,,,,OMIM ID:123320 +BMGC_DS04404,BMG_DS006730,Superficial ulcer of skin (disorder),UMLS ID:C0241069,Superficial ulcer of skin | Erosion of skin | Superficial ulcer of skin (disorder),SNOMEDCT ID:93448009,,,,,,,,,, +BMGC_DS04405,BMG_DS006737,,UMLS ID:C0241593,,,,,adhesions of uterus,MONDO:0001809,,,adhesions of uterus,DOID:13812,, +BMGC_DS04406,BMG_DS006744,Cerebrovascular Insufficiency,UMLS ID:C0241832,,,,,,,Cerebrovascular Disorders,MeSH ID:D002561,,,, +BMGC_DS04407,BMG_DS006750,"Hematuria, Benign Familial",UMLS ID:C0241908,,,,,"hematuria, benign familial",MONDO:0957317,,MeSH ID:C562476,,,, +BMGC_DS04408,BMG_DS006751,Autoimmune Chronic Hepatitis,UMLS ID:C0241910,,,,,,,"Hepatitis, Autoimmune",MeSH ID:D019693,autoimmune hepatitis,DOID:2048,, +BMGC_DS04409,BMG_DS006755,X-linked hypogammaglobulinemia,UMLS ID:C0241932,X-linked hypogammaglobulinaemia | X-linked hypogammaglobulinemia | X-linked hypogammaglobulinemia (disorder),SNOMEDCT ID:234416002,,,,,,,,,, +BMGC_DS04410,BMG_DS006758,,UMLS ID:C0241961,,,,,kidney angiomyolipoma,MONDO:0004555,,,kidney angiomyolipoma,DOID:8411,, +BMGC_DS04411,BMG_DS006762,,UMLS ID:C0241989,,,,,vulvar melanoma,MONDO:0002205,,,vulvar melanoma,DOID:2093,, +BMGC_DS04412,BMG_DS006765,Sciatic Neuritis,UMLS ID:C0242013,,,,,,,Sciatic Neuropathy,MeSH ID:D020426,,,, +BMGC_DS04413,BMG_DS006766,"Pancreatitis, Acute Edematous",UMLS ID:C0242032,,,,,,,Pancreatitis,MeSH ID:D010195,,,, +BMGC_DS04414,BMG_DS006770,Pulmonary congestion,UMLS ID:C0242073,Pulmonary congestion | Pulmonary congestion (disorder),SNOMEDCT ID:196118009 | SNOMEDCT ID:67599009,,,,,,,,,, +BMGC_DS04415,BMG_DS006773,Thrombotic Stroke,UMLS ID:C0242129,,,,,,,Thrombotic Stroke,MeSH ID:D000083244,,,, +BMGC_DS04416,BMG_DS006778,Pelvic Inflammatory Disease,UMLS ID:C0242172,,,,,pelvic inflammatory disease,MONDO:0000922,Pelvic Inflammatory Disease,MeSH ID:D000292,pelvic inflammatory disease,DOID:1003,, +BMGC_DS04417,BMG_DS006779,"Jaundice, Hemolytic",UMLS ID:C0242183,,,,,,,Jaundice,MeSH ID:D007565,,,, +BMGC_DS04418,BMG_DS006781,Calcium Pyrophosphate Dihydrate Deposition,UMLS ID:C0242217,,,,,,,Chondrocalcinosis,MeSH ID:D002805,,,, +BMGC_DS04419,BMG_DS006782,Color blindness,UMLS ID:C0242225,No colour perception | Colour blindness | Color blindness | No color perception | Color blindness (disorder) | Color blindness | Colour blindness | Colour blindness (disorder) | Color vision deficiency | Colour vision deficiency | Color vision deficiency (disorder),SNOMEDCT ID:193683001 | SNOMEDCT ID:155143000 | SNOMEDCT ID:53481002,Impairment of colour vision,ICD11 ID:9D44,,,,,color blindness,DOID:13399,ICD10 ID:H53.5, +BMGC_DS04420,BMG_DS006783,Coronary Stenosis,UMLS ID:C0242231,,,,,coronary stenosis,MONDO:0006715,Coronary Stenosis,MeSH ID:D023921,coronary stenosis,DOID:4248,, +BMGC_DS04421,BMG_DS006785,McCune-Albright Syndrome,UMLS ID:C0242292,,,,,McCune-Albright syndrome,MONDO:0018919,"Fibrous Dysplasia, Polyostotic",MeSH ID:D005359,,,,OMIM ID:174800 +BMGC_DS04422,BMG_DS006786,,UMLS ID:C0242310,,,,,mu-heavy chain disease,MONDO:0015044,,,heavy chain disease,DOID:0060125,, +BMGC_DS04423,BMG_DS006789,Dyslipidemias,UMLS ID:C0242339,,,,,,,Dyslipidemias,MeSH ID:D050171,,,, +BMGC_DS04424,BMG_DS006790,Sexual Infantilism,UMLS ID:C0242341,,,,,,,Sexual Infantilism,MeSH ID:D050035,,,, +BMGC_DS04425,BMG_DS006791,Sheehan Syndrome,UMLS ID:C0242342,,,,,Sheehan syndrome,MONDO:0019618,Hypopituitarism,MeSH ID:D007018,Sheehan syndrome,DOID:9476,, +BMGC_DS04426,BMG_DS006792,Panhypopituitarism,UMLS ID:C0242343,Hypopituit (& [panhypopituitarism]) | Hypopituit/panhypopituitarism | Panhypopituitarism | Hypopituit (& [panhypopituitarism]) (disorder) | Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] | Sheehan's syndrome | Panhypopituitarism | Hypopituitarism NOS | Simmond's disease | Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] (disorder) | Panhypopituitarism | Hypopituit/panhypopituitarism | Hypopituit (& [panhypopituitarism]) | Hypopituit (& [panhypopituitarism]) (disorder) | Panhypopituitarism | Primary hypopituitarism | Simmonds' disease | Deficient secretion of all pituitary hormones | Simmond's disease | Panhypopituitarism (disorder),SNOMEDCT ID:154700009 | SNOMEDCT ID:190469009 | SNOMEDCT ID:267481002 | SNOMEDCT ID:32390006,Hypopituitarism,ICD11 ID:5A61.0,panhypopituitarism,MONDO:0019591,,MeSH ID:C580003,hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IB | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type III | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | combined pituitary hormone deficiency | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090072;DOID:0090087;DOID:0060875;DOID:0090073;DOID:0090076;DOID:0090092;DOID:0060873;DOID:0090080;DOID:0090075;DOID:0090077;DOID:0090071;DOID:0090082;DOID:0090084;DOID:0090074;DOID:0090093;DOID:0060874;DOID:0090078;DOID:0090070;DOID:0090085;DOID:0090094;DOID:0090086;DOID:0090083;DOID:9410;DOID:0090081;DOID:0090079;DOID:0090089;DOID:0090090,ICD10 ID:E23.0,OMIM ID:MTHU017686 +BMGC_DS04427,BMG_DS006793,Erectile dysfunction,UMLS ID:C0242350,Erectile dysfunction | Failure of erection | Erectile dysfunction (disorder) | Male erectile disorder | Male erectile disorder (disorder) | Male erectile disorder | Erectile dysfunction | Impotence (disorder) | Impotence | Failure of erection | Sexual impotence | Erectile dysfunction | Male erectile disorder | Impotence | Failure of erection | Erectile dysfunction | Male erectile disorder (disorder),SNOMEDCT ID:860914002 | SNOMEDCT ID:398175007 | SNOMEDCT ID:397803000 | SNOMEDCT ID:33967003,,,erectile dysfunction,MONDO:0005362,,,,,,OMIM ID:MTHU026591 +BMGC_DS04428,BMG_DS006794,Congenital Disorders,UMLS ID:C0242354,,,,,,,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities",MeSH ID:D009358,,,, +BMGC_DS04429,BMG_DS006795,,UMLS ID:C0242363,,,,,,,,,islet cell tumor,DOID:1799,, +BMGC_DS04430,BMG_DS006796,,UMLS ID:C0242379,,,,,lung cancer,MONDO:0008903,,,,,,OMIM ID:211980 +BMGC_DS04431,BMG_DS006797,Libman-Sacks Disease,UMLS ID:C0242380,,,,,Libman-Sacks endocarditis,MONDO:0850223,"Lupus Erythematosus, Systemic",MeSH ID:D008180,,,, +BMGC_DS04432,BMG_DS006798,Lyme Arthritis,UMLS ID:C0242381,,,,,,,Lyme Disease,MeSH ID:D008193,,,, +BMGC_DS04433,BMG_DS006799,Age related macular degeneration,UMLS ID:C0242383,Age related macular degeneration | Age related macular degeneration (disorder) | Age related macular degeneration | Age-related macular degeneration | ARMD - Age-related macular degeneration | Senile macular retinal degeneration | SMD - Senile macular degeneration | AMD - Age-related macular degeneration | Senile macular degeneration | Age-related macular degeneration (disorder) | AAMD - Age related macular degeneration,SNOMEDCT ID:18222007 | SNOMEDCT ID:267718000,,,age-related macular degeneration,MONDO:0005150,,,age related macular degeneration,DOID:10871,, +BMGC_DS04434,BMG_DS006800,Mandibulofacial Dysostosis,UMLS ID:C0242387,,,,,Treacher-Collins syndrome | mandibulofacial dysostosis,MONDO:0015483;MONDO:0002457,Mandibulofacial Dysostosis,MeSH ID:D008342,Treacher Collins syndrome,DOID:2908,, +BMGC_DS04435,BMG_DS006803,,UMLS ID:C0242420,,,,,retinal edema,MONDO:0004037,,,retinal edema | optic papillitis,DOID:6929;DOID:10175,, +BMGC_DS04436,BMG_DS006804,Parkinsonian Disorders,UMLS ID:C0242422,,,,,parkinsonian disorder,MONDO:0021095,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS04437,BMG_DS006805,Ramsay Hunt Paralysis Syndrome,UMLS ID:C0242423,,,,,,,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS04438,BMG_DS006806,Chylopericardium,UMLS ID:C0242426,Chylopericardium | Chylopericardium (disorder),SNOMEDCT ID:233890005,,,,,Pericardial Effusion,MeSH ID:D010490,,,ICD10 ID:I31.39, +BMGC_DS04439,BMG_DS006807,Simple Pulmonary Eosinophilia,UMLS ID:C0242459,,,,,,,Pulmonary Eosinophilia,MeSH ID:D011657,Loeffler syndrome,DOID:9503,, +BMGC_DS04440,BMG_DS006808,"Purpura, Nonthrombocytopenic",UMLS ID:C0242461,,,,,,,IgA Vasculitis,MeSH ID:D011695,,,, +BMGC_DS04441,BMG_DS006809,Enthesopathy,UMLS ID:C0242490,Enthesopathy | Enthesopathy (disorder),SNOMEDCT ID:278525009 | SNOMEDCT ID:23680005,,,enthesopathy,MONDO:0002183,Enthesopathy,MeSH ID:D000070676,enthesopathy,DOID:204,, +BMGC_DS04442,BMG_DS006811,Paroxysmal Reciprocal Tachycardia,UMLS ID:C0242513,,,,,,,"Tachycardia, Paroxysmal",MeSH ID:D013614,,,, +BMGC_DS04443,BMG_DS006813,"Gonadal Dysgenesis, 45,X",UMLS ID:C0242526,,,,,monosomy X,MONDO:0020466,Turner Syndrome,MeSH ID:D014424,,,, +BMGC_DS04444,BMG_DS006814,Azotemia,UMLS ID:C0242528,Azotemia (disorder) | Azotaemia | Azotemia,SNOMEDCT ID:445009001,,,,,Azotemia,MeSH ID:D053099,,,,OMIM ID:MTHU013356 +BMGC_DS04445,BMG_DS006817,Opsoclonus,UMLS ID:C0242567,Opsoclonia | Opsoclonus | Opsoclonia (finding) | Opsoclonus | Opsoclonia | Opsoclonus (finding),SNOMEDCT ID:194177006 | SNOMEDCT ID:73519005,,,,,Ocular Motility Disorders,MeSH ID:D015835,,,,OMIM ID:MTHU010637 +BMGC_DS04446,BMG_DS006818,Bare Lymphocyte Syndrome,UMLS ID:C0242583,,,,,,,Severe Combined Immunodeficiency,MeSH ID:D016511,MHC class II deficiency,DOID:5812,, +BMGC_DS04447,BMG_DS006819,Autoimmune thrombocytopenia,UMLS ID:C0242584,Autoimmune thrombocytopenia | Autoimmune thrombocytopenia (disorder) | Primary ITP (immune thrombocytopenia) | Chronic idiopathic thrombocytopenic purpura | Werlhof's disease | Purpura hemorrhagica | Chronic thrombocytopenic purpura | Autoimmune thrombocytopenic purpura | Purpura haemorrhagica | Chronic idiopathic thrombocytopenic purpura (disorder) | Autoimmune thrombocytopenia | Autoimmune thrombocytopenia (disorder),SNOMEDCT ID:128091003 | SNOMEDCT ID:13172003 | SNOMEDCT ID:275758003,,,autoimmune thrombocytopenia,MONDO:0019098,,,,,,OMIM ID:MTHU004966 +BMGC_DS04448,BMG_DS006820,Leukocyte-Adhesion Deficiency Syndrome,UMLS ID:C0242597,,,,,,,Leukocyte-Adhesion Deficiency Syndrome,MeSH ID:D018370,leukocyte adhesion deficiency,DOID:6612,, +BMGC_DS04449,BMG_DS006823,Brown-Sequard Syndrome,UMLS ID:C0242644,,,,,Brown-Sequard syndrome,MONDO:0003754,Brown-Sequard Syndrome,MeSH ID:D018437,Brown-Sequard syndrome,DOID:606,, +BMGC_DS04450,BMG_DS006824,Blue Toe Syndrome,UMLS ID:C0242645,,,,,blue toe syndrome,MONDO:0001883,Blue Toe Syndrome,MeSH ID:D018438,blue toe syndrome,DOID:14121,, +BMGC_DS04451,BMG_DS006825,,UMLS ID:C0242647,,,,,MALT lymphoma,MONDO:0007650,,,,,,OMIM ID:137245 +BMGC_DS04452,BMG_DS006826,Protein S Deficiency,UMLS ID:C0242666,,,,,protein S deficiency,MONDO:0002304,Protein S Deficiency,MeSH ID:D018455,protein S deficiency,DOID:2451,, +BMGC_DS04453,BMG_DS006830,"Bone Demineralization, Pathologic",UMLS ID:C0242699,,,,,,,"Bone Demineralization, Pathologic",MeSH ID:D018488,,,, +BMGC_DS04454,BMG_DS006831,Space Motion Sickness,UMLS ID:C0242700,,,,,space motion sickness,MONDO:0003147,Space Motion Sickness,MeSH ID:D018489,space motion sickness,DOID:4796,, +BMGC_DS04455,BMG_DS006833,Bronchiolitis Obliterans Organizing Pneumonia,UMLS ID:C0242770,,,,,cryptogenic organizing pneumonia,MONDO:0015264,Cryptogenic Organizing Pneumonia,MeSH ID:D018549,cryptogenic organizing pneumonia,DOID:0050157,, +BMGC_DS04456,BMG_DS006834,,UMLS ID:C0242788,,,,,,,,,male breast cancer,DOID:1614,, +BMGC_DS04457,BMG_DS006836,Proliferative vitreoretinopathy,UMLS ID:C0242852,Proliferative vitreoretinopathy | PVR - Proliferative vitreoretinopathy | Fibrosis of retina | Retinitis proliferans | Proliferative vitreoretinopathy (disorder),SNOMEDCT ID:232016005,,,proliferative vitreoretinopathy,MONDO:0700115,,,neovascular inflammatory vitreoretinopathy,DOID:9719,,OMIM ID:MTHU059298 +BMGC_DS04458,BMG_DS006837,Congenital atresia of pulmonary valve,UMLS ID:C0242855,Congenital atresia of pulmonary valve | Congenital atresia of pulmonary valve (disorder) | Imperforate pulmonary valve | Congenital atresia of pulmonary valve | Congenital atresia of pulmonary valve (disorder),SNOMEDCT ID:204342004 | SNOMEDCT ID:52670000,,,,,,,,,, +BMGC_DS04459,BMG_DS006841,Systemic Inflammatory Response Syndrome,UMLS ID:C0242966,,,,,,,Systemic Inflammatory Response Syndrome,MeSH ID:D018746,,,, +BMGC_DS04460,BMG_DS006842,Multiple Chemical Sensitivity,UMLS ID:C0242992,,,,,obsolete multiple chemical sensitivity,MONDO:0005862,Multiple Chemical Sensitivity,MeSH ID:D018777,multiple chemical sensitivity,DOID:4661,, +BMGC_DS04461,BMG_DS006848,Abdominal Abscess,UMLS ID:C0243001,,,,,,,Abdominal Abscess,MeSH ID:D018784,,,, +BMGC_DS04462,BMG_DS006849,,UMLS ID:C0243002,,,,,tricuspid atresia,MONDO:0011514,,,,,,OMIM ID:605067 +BMGC_DS04463,BMG_DS006850,Viral Encephalitis,UMLS ID:C0243010,,,,,viral encephalitis,MONDO:0006009,"Encephalitis, Viral",MeSH ID:D018792,,,, +BMGC_DS04464,BMG_DS006851,Hantavirus Pulmonary Syndrome,UMLS ID:C0243025,,,,,hantavirus pulmonary syndrome,MONDO:0017879,Hantavirus Pulmonary Syndrome,MeSH ID:D018804,hantavirus pulmonary syndrome,DOID:14472,, +BMGC_DS04465,BMG_DS006852,Sepsis,UMLS ID:C0243026,Systemic infection | Sepsis | Sepsis (disorder) | (Septicaemia NOS) or (sepsis) | Sepsis | (Septicemia NOS) or (sepsis) | Septicaemia NOS | Septicemia NOS | (Septicaemia NOS) or (sepsis) (disorder),SNOMEDCT ID:91302008 | SNOMEDCT ID:186392004,,,,,Sepsis,MeSH ID:D018805,,,,OMIM ID:MTHU055817 +BMGC_DS04466,BMG_DS006855,Autonomic neuropathy,UMLS ID:C0259749,Autonomic neuropathy | Autonomic neuropathy (disorder),SNOMEDCT ID:277879009,,,autonomic neuropathy,MONDO:0001300,,,autonomic neuropathy,DOID:11504,,OMIM ID:MTHU052930 +BMGC_DS04467,BMG_DS006857,,UMLS ID:C0259771,,,,,sebocystomatosis,MONDO:0008485,,,,,,OMIM ID:184500 +BMGC_DS04468,BMG_DS006860,,UMLS ID:C0259779,,,,,fibrous dysplasia,MONDO:0000845,,,,,, +BMGC_DS04469,BMG_DS006861,,UMLS ID:C0259782,,,,,telangiectatic osteogenic sarcoma,MONDO:0004050,,,telangiectatic osteogenic sarcoma,DOID:6951,, +BMGC_DS04470,BMG_DS006862,,UMLS ID:C0259783,,,,,mixed glioma,MONDO:0003268,,,mixed glioma,DOID:5076,, +BMGC_DS04471,BMG_DS006864,,UMLS ID:C0259786,,,,,rhabdoid meningioma,MONDO:0003262,,,rhabdoid meningioma,DOID:5058,, +BMGC_DS04472,BMG_DS006866,Punctate keratitis,UMLS ID:C0259799,(Punctate keratitis [& Thygeson's superficial] ) or (keratitic precipitates) | Thygeson's superficial punctate keratitis | Keratitic precipitates | Punctate keratitis | (Punctate keratitis [& Thygeson's superficial] ) or (keratitic precipitates) (disorder) | Punctate keratitis | Superficial punctate keratitis | Punctate keratitis (disorder) | PK - Punctate keratitis | Punctate epithelial keratitis,SNOMEDCT ID:193767008 | SNOMEDCT ID:42513006,,,,,,,punctate epithelial keratoconjunctivitis,DOID:12197,ICD10 ID:H16.14,OMIM ID:MTHU037418 +BMGC_DS04473,BMG_DS006867,Purulent endophthalmitis,UMLS ID:C0259800,Purulent endophthalmitis | Purulent endophthalmitis (disorder),SNOMEDCT ID:41720003,Purulent endophthalmitis,ICD11 ID:9C20.2,purulent endophthalmitis,MONDO:0004863,,,purulent endophthalmitis,DOID:9724,ICD10 ID:H44.0, +BMGC_DS04474,BMG_DS006870,,UMLS ID:C0260662,,,,,hearing disorder,MONDO:0021945,,,,,, +BMGC_DS04475,BMG_DS006874,,UMLS ID:C0262401,,,,,carcinoma of the ampulla of vater,MONDO:0017590,,,ampulla of Vater carcinoma,DOID:4932,, +BMGC_DS04476,BMG_DS006879,"Cardiac valvular dysplasia, X-linked",UMLS ID:C0262436,,,,,"cardiac valvular dysplasia, X-linked",MONDO:0010753,,MeSH ID:C535576,,,,OMIM ID:314400 +BMGC_DS04477,BMG_DS006887,Anterolateral Myocardial Infarction,UMLS ID:C0262564,,,,,anterolateral myocardial infarction,MONDO:0006652,Anterior Wall Myocardial Infarction,MeSH ID:D056988,anterolateral myocardial infarction,DOID:5845,, +BMGC_DS04478,BMG_DS006888,Anteroseptal Myocardial Infarction,UMLS ID:C0262565,,,,,anteroseptal myocardial infarction,MONDO:0003679,Anterior Wall Myocardial Infarction,MeSH ID:D056988,anteroseptal myocardial infarction,DOID:5855,, +BMGC_DS04479,BMG_DS006891,,UMLS ID:C0262584,,,,,,,,,lung oat cell carcinoma,DOID:5411,, +BMGC_DS04480,BMG_DS006894,,UMLS ID:C0262587,,,,,parathyroid gland adenoma,MONDO:0006890,,,parathyroid adenoma,DOID:7608,, +BMGC_DS04481,BMG_DS006899,Recurrent urinary tract infection,UMLS ID:C0262655,"Recurrent urinary tract infection | Recurrent UTI - urinary tract infection | Recurrent urinary tract infection (disorder) | Urinary tract infection, site not specified | Recurrent urinary tract infection | Urinary tract infection: [site not specified] or [recurrent] | Urinary tract infection: [site not specified] or [recurrent] (disorder) | Recurrent urinary tract infection | Recurrent urinary tract infection (disorder)",SNOMEDCT ID:197927001 | SNOMEDCT ID:197924008 | SNOMEDCT ID:155901008,,,,,,,,,, +BMGC_DS04482,BMG_DS006903,,UMLS ID:C0262963,,,,,extragonadal germ cell tumor,MONDO:0018201,,,extragonadal germ cell cancer,DOID:4717,, +BMGC_DS04483,BMG_DS006915,Spongiotic dermatitis,UMLS ID:C0262984,Spongiotic dermatitis | Spongiotic dermatitis (disorder),SNOMEDCT ID:23615008,,,spongiotic dermatitis,MONDO:0002987,,,spongiotic dermatitis,DOID:4406,,OMIM ID:MTHU057660 +BMGC_DS04484,BMG_DS006916,Psoriasiform eczema,UMLS ID:C0262985,Psoriasiform eczema | Psoriasiform eczema (disorder),SNOMEDCT ID:238564003,,,,,,,,,, +BMGC_DS04485,BMG_DS006919,Cutaneous Vasculitis,UMLS ID:C0262988,,,,,cutaneous vasculitis,MONDO:0020576,"Skin Diseases, Vascular",MeSH ID:D017445,,,, +BMGC_DS04486,BMG_DS007190,Contact dermatitis caused by urushiol from Pacific poison oak,UMLS ID:C0263283,Contact dermatitis caused by urushiol from Toxicodendron diversilobum (disorder) | Contact dermatitis caused by Toxicodendron diversilobum | Contact dermatitis caused by urushiol from Toxicodendron diversilobum | Contact dermatitis caused by urushiol from Rhus diversiloba | Contact dermatitis caused by urushiol from Pacific poison oak,SNOMEDCT ID:409784006,,,,,,,,,, +BMGC_DS04487,BMG_DS007207,Pemphigus Foliaceus,UMLS ID:C0263313,,,,,pemphigus foliaceus,MONDO:0019324,Pemphigus,MeSH ID:D010392,pemphigus foliaceus,DOID:0080850,, +BMGC_DS04488,BMG_DS007220,"Urticaria, Aquagenic",UMLS ID:C0263334,,,,,"urticaria, aquagenic",MONDO:0008632,Chronic Inducible Urticaria,MeSH ID:D000094482,,,,OMIM ID:191850 +BMGC_DS04489,BMG_DS007224,Chronic Urticaria,UMLS ID:C0263338,,,,,chronic urticaria,MONDO:0850230,Chronic Urticaria,MeSH ID:D000080223,chronic urticaria,DOID:0080747,, +BMGC_DS04490,BMG_DS007237,Prurigo nodularis,UMLS ID:C0263353,Prurigo nodularis | Hyde's disease | Prurigo nodularis (disorder) | Nodular prurigo | Picker's nodules,SNOMEDCT ID:63501000,Nodular prurigo,ICD11 ID:EC91.0,prurigo nodularis,MONDO:0026045,,,,,ICD10 ID:L28.1, +BMGC_DS04491,BMG_DS007251,Gianotti-Crosti Syndrome,UMLS ID:C0263372,,,,,,,Acrodermatitis,MeSH ID:D000169,,,, +BMGC_DS04492,BMG_DS007255,Distinctive exudative discoid AND lichenoid chronic dermatosis of Sulzberger and Garbe,UMLS ID:C0263377,Distinctive exudative discoid AND lichenoid chronic dermatosis of Sulzberger and Garbe | Distinctive exudative discoid AND lichenoid chronic dermatosis of Sulzberger and Garbe (disorder) | Exudative discoid and lichenoid dermatosis | Sulzberger-Garbe syndrome,SNOMEDCT ID:41580004,,,,,,,,,, +BMGC_DS04493,BMG_DS007260,Kyrle disease,UMLS ID:C0263382,,,Acquired perforating dermatosis,ICD11 ID:EE70.0,Kyrle disease,MONDO:0007869,,MeSH ID:C538130,,,ICD10 ID:L87.0,OMIM ID:149500 +BMGC_DS04494,BMG_DS007261,Keratosis pilaris,UMLS ID:C0263383,Keratosis pilaris | Keratosis pilaris (disorder) | KP - Keratosis pilaris | Keratosis pilaris | Keratosis pilaris (disorder),SNOMEDCT ID:5132005 | SNOMEDCT ID:201062000,,,keratosis pilaris,MONDO:0021036,,MeSH ID:C537412,,,,OMIM ID:MTHU005148 +BMGC_DS04495,BMG_DS007262,,UMLS ID:C0263385,,,,,"papillomatosis, confluent and reticulated",MONDO:0008188,,,,,,OMIM ID:167900 +BMGC_DS04496,BMG_DS007272,Erythema elevatum diutinum,UMLS ID:C0263398,Erythema elevatum diutinum | Erythema elevatum diutinum (disorder) | EED - Erythema elevatum diutinum | Erythema elevatum diutinum | Erythema elevatum diutinum (disorder),SNOMEDCT ID:58872001 | SNOMEDCT ID:201300002,Other specified localised cutaneous vasculitis,ICD11 ID:EF40.2Y,erythema elevatum diutinum,MONDO:0019526,,MeSH ID:C535509,erythema elevatum diutinum,DOID:0060567,ICD10 ID:L95.1, +BMGC_DS04497,BMG_DS007275,Cutis marmorata,UMLS ID:C0263401,Cutis marmorata | Cutis marmorata (disorder) | Cutis marmorata | Cutis marmorata (finding),SNOMEDCT ID:201304006 | SNOMEDCT ID:26825009,,,,,,,,,,OMIM ID:MTHU005302 +BMGC_DS04498,BMG_DS007276,Telangiectasia macularis eruptiva perstans,UMLS ID:C0263402,Telangiectasia macularis eruptiva perstans | Telangiectasia macularis eruptiva perstans (disorder) | TMEP - telangiectasia macularis eruptiva perstans | Paucicellular mastocytosis,SNOMEDCT ID:8214000,,,telangiectasia macularis eruptiva perstans,MONDO:0019576,,MeSH ID:C000715747,,,ICD10 ID:D47.01, +BMGC_DS04499,BMG_DS007279,Linear Scleroderma,UMLS ID:C0263409,,,,,linear scleroderma,MONDO:0043294,"Scleroderma, Localized",MeSH ID:D012594,,,, +BMGC_DS04500,BMG_DS007285,Hyperkeratosis lenticularis perstans,UMLS ID:C0263420,Hyperkeratosis lenticularis perstans | Hyperkeratosis lenticularis perstans of Flegel | Hyperkeratosis lenticularis perstans (disorder) | Flegels disease,SNOMEDCT ID:28488007,,,hyperkeratosis lenticularis perstans,MONDO:0007756,,MeSH ID:C538377,,,,OMIM ID:144150 +BMGC_DS04501,BMG_DS007290,Burnett Schwartz Berberian syndrome,UMLS ID:C0263428,,,,,keratosis pilaris atrophicans,MONDO:0018855,,MeSH ID:C537412,,,,OMIM ID:604093 +BMGC_DS04502,BMG_DS007291,Atrophoderma vermiculatum,UMLS ID:C0263429,Atrophoderma vermiculatum | Acne vermoulante | Honeycomb atrophy of face | Folliculitis ulerythematosa reticulata | Atrophoderma vermiculatum (disorder) | Atrophoderma vermiculatum | Atrophoderma vermiculatum (disorder),SNOMEDCT ID:2736005 | SNOMEDCT ID:201154005,,,atrophoderma vermiculata,MONDO:0008849,,,,,,OMIM ID:209700 +BMGC_DS04503,BMG_DS007311,Chloracne,UMLS ID:C0263454,Chlorine acne | Chloracne | Chlorine acne (disorder),SNOMEDCT ID:83684005,,,,,Chloracne,MeSH ID:D054506,,,, +BMGC_DS04504,BMG_DS007323,Miliaria profunda,UMLS ID:C0263468,Miliaria profunda | Miliaria profunda (disorder),SNOMEDCT ID:201193001 | SNOMEDCT ID:47317002,Other specified forms of miliaria,ICD11 ID:EE02.Y,miliaria profunda,MONDO:0024228,,,miliaria profunda,DOID:0070320,ICD10 ID:L74.2, +BMGC_DS04505,BMG_DS007325,Granulosis Rubra Nasi,UMLS ID:C0263471,,,,,granulosis rubra nasi,MONDO:0007685,,MeSH ID:C562483,,,,OMIM ID:139000 +BMGC_DS04506,BMG_DS007331,Diffuse alopecia areata,UMLS ID:C0263479,Diffuse alopecia areata | Diffuse alopecia areata (disorder),SNOMEDCT ID:46586006,,,diffuse alopecia areata,MONDO:0000687,,,diffuse alopecia areata,DOID:0060157,, +BMGC_DS04507,BMG_DS007338,Pili annulati,UMLS ID:C0263489,Pili annulati | Pili annulati (disorder) | Pili annulati | Ringed hair | Pili annulati (disorder),SNOMEDCT ID:247556005 | SNOMEDCT ID:21926007,Genetic defects of the hair shaft,ICD11 ID:EC21.0,ringed hair disease,MONDO:0008388,,MeSH ID:C537187,,,ICD10 ID:Q84.1,OMIM ID:180600 | OMIM ID:MTHU010122 +BMGC_DS04508,BMG_DS007340,,UMLS ID:C0263491,,,,,pili torti,MONDO:0009870,,,,,,OMIM ID:261900 +BMGC_DS04509,BMG_DS007351,Alopecia universalis,UMLS ID:C0263505,Alopecia universalis | Alopecia universalis (disorder) | Alopecia universalis | Alopecia universalis (disorder) | Universal alopecia areata,SNOMEDCT ID:201145007 | SNOMEDCT ID:86166000,Other specified forms of alopecia areata,ICD11 ID:ED70.2Y,alopecia universalis,MONDO:0800198,,MeSH ID:C537055,alopecia universalis,DOID:0050634,ICD10 ID:L63.1,OMIM ID:MTHU033161 +BMGC_DS04510,BMG_DS007352,Perifolliculitis capitis abscedens,UMLS ID:C0263506,Perifolliculitis capitis abscedens | Perifolliculitis capitis abscedens (disorder),SNOMEDCT ID:201182003,Dissecting cellulitis,ICD11 ID:ED70.51,dissecting cellulitis of the scalp,MONDO:0009848,,,,,ICD10 ID:L66.3,OMIM ID:260910 +BMGC_DS04511,BMG_DS007362,Telogen effluvium,UMLS ID:C0263518,Telogen effluvium | Telogen effluvium (disorder),SNOMEDCT ID:201147004 | SNOMEDCT ID:39479004,Telogen effluvium unspecified,ICD11 ID:ED70.3Z,telogen effluvium,MONDO:0002153,,,telogen effluvium,DOID:1943,ICD10 ID:L65.0, +BMGC_DS04512,BMG_DS007406,Drug-induced lupus erythematosus,UMLS ID:C0263591,Drug-induced lupus erythematosus | Drug-induced lupus erythematosus (disorder) | Lupus-like syndrome,SNOMEDCT ID:80258006,,,drug-induced lupus erythematosus,MONDO:0016474,,,drug-induced lupus erythematosus,DOID:0040093,, +BMGC_DS04513,BMG_DS007437,,UMLS ID:C0263637,,,,,angioma serpiginosum,MONDO:0019803,,,angioma serpiginosum,DOID:4028,, +BMGC_DS04514,BMG_DS007438,Angiokeratoma circumscriptum,UMLS ID:C0263638,Angiokeratoma circumscriptum | Angiokeratoma circumscriptum (disorder),SNOMEDCT ID:21848000,,,angiokeratoma circumscriptum,MONDO:0003713,,,angiokeratoma circumscriptum,DOID:5949,, +BMGC_DS04515,BMG_DS007439,,UMLS ID:C0263639,,,,,angiokeratoma of Fordyce,MONDO:0003954,,,angiokeratoma of Fordyce,DOID:664,, +BMGC_DS04516,BMG_DS007440,,UMLS ID:C0263640,,,,,angiokeratoma of mibelli,MONDO:0003712,,,angiokeratoma of mibelli,DOID:5948,, +BMGC_DS04517,BMG_DS007458,Disseminated eosinophilic collagen disease,UMLS ID:C0263662,Disseminated eosinophilic collagen disease (disorder) | Disseminated eosinophilic collagen disease | Disseminated eosinophilic collagen disease | DECD | Hypereosinophilic syndrome | Disseminated eosinophilic collagen disease (disorder),SNOMEDCT ID:423486005 | SNOMEDCT ID:26328002,,,disseminated eosinophilic collagen disease,MONDO:0004803,,,disseminated eosinophilic collagen disease,DOID:9499,, +BMGC_DS04518,BMG_DS007462,"Dermatomyositis, Childhood Type",UMLS ID:C0263666,,,,,juvenile dermatomyositis,MONDO:0008054,Dermatomyositis,MeSH ID:D003882,childhood type dermatomyositis,DOID:14203,, +BMGC_DS04519,BMG_DS007583,,UMLS ID:C0263859,,,,,SAPHO syndrome,MONDO:0019266,,,SAPHO syndrome,DOID:13677,, +BMGC_DS04520,BMG_DS007611,Capsulitis,UMLS ID:C0263907,(Peripheral enthesopathies) or (capsulitis) | Enthesopathies - peripheral | Capsulitis | Peripheral enthesopathies | (Peripheral enthesopathies) or (capsulitis) (disorder) | Capsulitis | Capsulitis (disorder),SNOMEDCT ID:268086004 | SNOMEDCT ID:6858004,,,,,Bursitis,MeSH ID:D002062,,,, +BMGC_DS04521,BMG_DS007635,Achilles tendinitis,UMLS ID:C0263933,Metatarsalgia | Calcaneal spur | Achilles tendinitis | Tendinitis of ankle/tarsus | Ankle tendonitis | Achilles tendiditis | Spur - calcaneal | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) (disorder) | Achilles tendinitis | Achilles tendinitis (disorder) | Achilles tendonitis | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) | Achilles tendiditis | Spur - calcaneal | Tendinitis of ankle/tarsus | Ankle tendonitis | Metatarsalgia | Calcaneal spur | Achilles tendinitis | (Tendinitis: [ankle/tarsus] or [achilles] or [ankle]) or (calcaneal spur) or (metatarsalgia) (disorder),SNOMEDCT ID:156663001 | SNOMEDCT ID:11654001 | SNOMEDCT ID:268090002,Other specified tenosynovitis,ICD11 ID:FB40.Y,,,,,,,ICD10 ID:M76.6, +BMGC_DS04522,BMG_DS007658,Olecranon bursitis,UMLS ID:C0263962,Inflammation of bursa of olecranon (disorder) | Capped elbow | Olecranon bursitis | Student's elbow | Inflammation of bursa of olecranon | Miner's elbow | Elbow hygroma (disorder) | Elbow hygroma | Olecranon bursitis | Bursitis of elbow | Miners' elbow | Bursitis of elbow region | Student's elbow | Olecranon bursitis (disorder) | Shoe boil | Capped elbow | Elbow bursitis (& olecranon) | Olecranon bursitis | Bursitis - elbow | Elbow bursitis (& olecranon) (disorder) | Olecranon bursitis | Olecranon bursitis (disorder),SNOMEDCT ID:425940002 | SNOMEDCT ID:424548006 | SNOMEDCT ID:77299006 | SNOMEDCT ID:270542002 | SNOMEDCT ID:202930004,"Bursitis, unspecified",ICD11 ID:FB50.Z,olecranon bursitis,MONDO:0001557,,,olecranon bursitis,DOID:12581,ICD10 ID:M70.2, +BMGC_DS04523,BMG_DS007668,Polymyositis Ossificans,UMLS ID:C0263984,,,,,,,Polymyositis,MeSH ID:D017285,polymyositis,DOID:0080745,, +BMGC_DS04524,BMG_DS007680,Knuckle pads,UMLS ID:C0264000,Knuckle pads | Garrod's pads | Knuckle pads (disorder),SNOMEDCT ID:16687001,Knuckle pads,ICD11 ID:FB51.1,knuckle pads,MONDO:0007865,,,,,ICD10 ID:M72.1,OMIM ID:149100 | OMIM ID:MTHU051342 +BMGC_DS04525,BMG_DS007684,Eosinophilic Fasciitis,UMLS ID:C0264005,,,,,eosinophilic fasciitis,MONDO:0009175,,MeSH ID:C562487,,,,OMIM ID:226350 +BMGC_DS04526,BMG_DS007687,Hepatic osteodystrophy,UMLS ID:C0264010,Hepatic osteodystrophy | Hepatic osteodystrophy (disorder),SNOMEDCT ID:28193003,,,,,,,,,, +BMGC_DS04527,BMG_DS007748,Osteoarthropathy of fingers familial,UMLS ID:C0264081,,,,,"Thiemann disease, familial form",MONDO:0008142,,MeSH ID:C537144,,,,OMIM ID:165700 +BMGC_DS04528,BMG_DS007771,,UMLS ID:C0264115,,,,,drug-induced osteoporosis,MONDO:0024650,,,,,, +BMGC_DS04529,BMG_DS007775,"Atrophy, Disuse",UMLS ID:C0264122,,,,,,,"Muscular Disorders, Atrophic",MeSH ID:D020966,,,, +BMGC_DS04530,BMG_DS007782,,UMLS ID:C0264162,,,,,idiopathic camptocormia,MONDO:0015271,,,,,, +BMGC_DS04531,BMG_DS007815,Chronic disease of respiratory system,UMLS ID:C0264220,Chronic respiratory disease | Chronic respiratory system disease | Chronic disease of respiratory system | Chronic disease of respiratory system (disorder),SNOMEDCT ID:17097001,,,,,,,,,, +BMGC_DS04532,BMG_DS007878,,UMLS ID:C0264303,,,,,congenital laryngomalacia,MONDO:0007878,,,,,,OMIM ID:150280 +BMGC_DS04533,BMG_DS007892,Calcification of trachea,UMLS ID:C0264324,Calcification of trachea | Calcification of trachea (disorder) | Tracheal calcification,SNOMEDCT ID:81089005,,,tracheal calcification,MONDO:0001911,,,tracheal calcification,DOID:14224,, +BMGC_DS04534,BMG_DS007909,Bronchomalacia,UMLS ID:C0264353,Bronchomalacia | Bronchomalacia (disorder),SNOMEDCT ID:54203008,,,,,Bronchomalacia,MeSH ID:D055091,,,,OMIM ID:MTHU014703 +BMGC_DS04535,BMG_DS007912,Cylindrical Bronchiectasis,UMLS ID:C0264358,,,,,,,Bronchiectasis,MeSH ID:D001987,,,, +BMGC_DS04536,BMG_DS007914,Saccular Bronchiectasis,UMLS ID:C0264360,,,,,,,Bronchiectasis,MeSH ID:D001987,,,, +BMGC_DS04537,BMG_DS007944,Panacinar Emphysema,UMLS ID:C0264393,,,,,,,Pulmonary Emphysema,MeSH ID:D011656,,,, +BMGC_DS04538,BMG_DS007964,"Asthma, Occupational",UMLS ID:C0264423,,,,,occupational asthma,MONDO:0022742,"Asthma, Occupational",MeSH ID:D059366,,,, +BMGC_DS04539,BMG_DS007973,Kaolinosis,UMLS ID:C0264435,Kaolinosis | Kaolin pneumoconiosis | Kaolinosis (disorder) | Kaolin workers pneumoconiosis,SNOMEDCT ID:36696005,,,kaolin pneumoconiosis,MONDO:0001005,,,kaolin pneumoconiosis,DOID:10331,, +BMGC_DS04540,BMG_DS008010,Acute respiratory failure,UMLS ID:C0264490,Acute respiratory failure | Acute respiratory failure (disorder) | ARF - Acute respiratory failure,SNOMEDCT ID:65710008,"Acute respiratory failure, unspecified",ICD11 ID:CB41.0Z,acute respiratory failure,MONDO:0001208,,,respiratory failure,DOID:11162,ICD10 ID:J96.0, +BMGC_DS04541,BMG_DS008019,Compression Pulmonary Atelectasis,UMLS ID:C0264499,,,,,,,Pulmonary Atelectasis,MeSH ID:D001261,,,, +BMGC_DS04542,BMG_DS008027,Endogenous Lipid Pneumonia,UMLS ID:C0264510,,,,,,,"Pneumonia, Lipid",MeSH ID:D011017,,,, +BMGC_DS04543,BMG_DS008028,Lymphoid interstitial pneumonia,UMLS ID:C0264511,Lymphoid interstitial pneumonia | Lymphocytic interstitial pneumonia | Lymphoid interstitial pneumonitis | Idiopathic lymphocytic interstitial pneumonia | Lymphoid interstitial pneumonitis (disorder),SNOMEDCT ID:44274007,,,lymphoid interstitial pneumonia,MONDO:0009537,,,,,ICD10 ID:J84.2,OMIM ID:247610 | OMIM ID:MTHU071516 +BMGC_DS04544,BMG_DS008031,"Pneumonia, Necrotizing",UMLS ID:C0264515,,,,,,,"Pneumonia, Necrotizing",MeSH ID:D000071067,,,, +BMGC_DS04545,BMG_DS008069,Tension Pneumothorax,UMLS ID:C0264558,,,,,,,Pneumothorax,MeSH ID:D011030,,,, +BMGC_DS04546,BMG_DS008089,Spastic Dysphonia,UMLS ID:C0264588,,,,,,,Dysphonia,MeSH ID:D055154,,,, +BMGC_DS04547,BMG_DS008099,"Voice Disorder, Neurologic",UMLS ID:C0264600,,,,,,,Voice Disorders,MeSH ID:D014832,,,, +BMGC_DS04548,BMG_DS008106,Apraxia of Phonation,UMLS ID:C0264611,,,,,,,Apraxias,MeSH ID:D001072,,,, +BMGC_DS04549,BMG_DS008167,Chronic myocardial ischemia,UMLS ID:C0264694,Chronic myocardial ischemia (disorder) | Chronic myocardial ischemia | Chronic myocardial ischaemia | Chronic coronary insufficiency | Chronic ischemic heart disease | Chronic myocardial ischemia | Chronic coronary insufficiency | Chronic ischaemic heart disease | Chronic myocardial ischaemia | Chronic ischemic heart disease (disorder) | Chronic myocardial ischaemia | Chronic myocardial ischemia | Chronic myocardial ischaemia (disorder),SNOMEDCT ID:413844008 | SNOMEDCT ID:84537008 | SNOMEDCT ID:194852007,,,,,,,coronary artery disease,DOID:3393,, +BMGC_DS04550,BMG_DS008181,Acute heart failure,UMLS ID:C0264714,Acute heart failure | Acute heart failure (disorder),SNOMEDCT ID:195116000 | SNOMEDCT ID:56675007,,,,,,,,,, +BMGC_DS04551,BMG_DS008183,Chronic heart failure,UMLS ID:C0264716,Chronic heart failure | Chronic heart failure (disorder),SNOMEDCT ID:48447003,,,,,,,,,,OMIM ID:MTHU065635 +BMGC_DS04552,BMG_DS008207,Rheumatic fever without heart involvement,UMLS ID:C0264743,Rheumatic fever without heart involvement | Rheumatic fever without heart involvement (disorder),SNOMEDCT ID:155265007 | SNOMEDCT ID:24363009,,,,,,,rheumatic fever,DOID:1586,ICD10 ID:I00, +BMGC_DS04553,BMG_DS008209,Chorea Gravidarum,UMLS ID:C0264746,,,,,chorea gravidarum,MONDO:0001976,Chorea Gravidarum,MeSH ID:D020150,chorea gravidarum,DOID:14483,, +BMGC_DS04554,BMG_DS008226,Rheumatic disease of mitral valve,UMLS ID:C0264765,Rheumatic disease of mitral valve | Rheumatic mitral valve disease | Rheumatic mitral valve changes | Rheumatic disease of mitral valve (disorder),SNOMEDCT ID:83898004,,,rheumatic disease of mitral valve,MONDO:0042967,,,mitral valve disease,DOID:61,, +BMGC_DS04555,BMG_DS008234,Mitral and aortic incompetence,UMLS ID:C0264774,Mitral and aortic incompetence | Mitral and aortic insufficiency | Mitral and aortic regurgitation | Mitral and aortic incompetence (disorder),SNOMEDCT ID:194736003,,,,,,,mitral valve insufficiency | aortic valve insufficiency,DOID:11502;DOID:57,, +BMGC_DS04556,BMG_DS008236,Rheumatic tricuspid valve disease,UMLS ID:C0264776,Rheumatic disease of tricuspid valve | Rheumatic tricuspid valve disease | Rheumatic disease of tricuspid valve (disorder),SNOMEDCT ID:49699002,,,,,,,tricuspid valve disease,DOID:0050826,, +BMGC_DS04557,BMG_DS008247,Familial cardiomyopathy,UMLS ID:C0264789,Familial cardiomyopathy | Familial cardiomyopathy (disorder) | Familial cardiomyopathy | Primary familial cardiomyopathy | Familial cardiomyopathy (disorder),SNOMEDCT ID:389997000 | SNOMEDCT ID:195019009 | SNOMEDCT ID:35728003,,,familial cardiomyopathy,MONDO:0005217,,,,,, +BMGC_DS04558,BMG_DS008285,Primary eosinophilic endomyocardial restrictive cardiomyopathy,UMLS ID:C0264834,Primary eosinophilic endomyocardial restrictive cardiomyopathy | Eosinophilic endomyocardial disease | Löffler's endocarditis | Constrictive endocarditis | Löffler's parietal fibroplastic endocarditis | Primary eosinophilic endomyocardial restrictive cardiomyopathy (disorder),SNOMEDCT ID:33258008,,,,,,,Loeffler endocarditis,DOID:396,, +BMGC_DS04559,BMG_DS008330,Myxoid transformation of mitral valve,UMLS ID:C0264885,Myxoid transformation of mitral valve | Myxomatous degeneration of mitral valve | Myxoid transformation of mitral valve (disorder),SNOMEDCT ID:42069006,,,,,,,,,, +BMGC_DS04560,BMG_DS008331,Conduction disorder of the heart,UMLS ID:C0264886,Conduction disorder of the heart | Conduction disorder of the heart (disorder) | Disorder of heart conduction,SNOMEDCT ID:44808001,,,cardiac conduction defect,MONDO:0100042,,,,,,OMIM ID:115080 +BMGC_DS04561,BMG_DS008336,Nodal rhythm disorder,UMLS ID:C0264893,Nodal rhythm disorder | Nodal rhythm disorder (disorder) | Nodal rhythm disorder | Sinus arrhythmia | Nodal arrhythmia | Nodal rhythm disorder (disorder),SNOMEDCT ID:195102005 | SNOMEDCT ID:71792006,Other specified diseases of the circulatory system,ICD11 ID:BE2Y,,,,,Brugada syndrome 1 | Brugada syndrome 9,DOID:0110218;DOID:0110226,ICD10 ID:I49.8, +BMGC_DS04562,BMG_DS008342,Second degree atrioventricular block,UMLS ID:C0264906,"Second degree atrioventricular block | Second degree atrioventricular block (disorder) | Incomplete atrioventricular block, second degree | Second degree heart block",SNOMEDCT ID:195042002,,,second-degree atrioventricular block,MONDO:0000467,,,,,, +BMGC_DS04563,BMG_DS008370,Systemic Vasculitis,UMLS ID:C0264939,,,,,,,Systemic Vasculitis,MeSH ID:D056647,,,, +BMGC_DS04564,BMG_DS008409,Ruptured thoracic aortic aneurysm,UMLS ID:C0265010,Ruptured thoracic aortic aneurysm | Ruptured thoracic aortic aneurysm (disorder) | Thoracic aortic aneurysm which has ruptured | Ruptured thoracic aortic aneurysm | Thoracic aortic aneurysm which has ruptured (disorder),SNOMEDCT ID:34365005 | SNOMEDCT ID:195258006,,,,,,,aortic aneurysm,DOID:3627,, +BMGC_DS04565,BMG_DS008410,Ruptured abdominal aortic aneurysm,UMLS ID:C0265012,Ruptured abdominal aortic aneurysm | Ruptured abdominal aortic aneurysm (disorder) | Abdominal aortic aneurysm which has ruptured | Ruptured aneurysm of abdominal aorta,SNOMEDCT ID:14336007,,,,,,,aortic aneurysm,DOID:3627,, +BMGC_DS04566,BMG_DS008419,Portal vein obstruction,UMLS ID:C0265029,Portal vein obstruction | Portal vein obstruction (disorder) | Hepatic portal vein obstruction,SNOMEDCT ID:57348003,,,,,,,,,, +BMGC_DS04567,BMG_DS008437,Thrombophlebitis of superficial veins of lower extremity,UMLS ID:C0265057,Thrombophlebitis of superficial veins of lower extremity | Thrombophlebitis of superficial veins of lower extremity (disorder),SNOMEDCT ID:40283005,,,,,,,thrombophlebitis,DOID:3875,, +BMGC_DS04568,BMG_DS008445,Thrombophlebitis of the femoral vein,UMLS ID:C0265066,Thrombophlebitis of the femoral vein | Thrombophlebitis of the femoral vein (disorder),SNOMEDCT ID:195410000,,,femoral vein thrombophlebitis,MONDO:0001481,,,femoral vein thrombophlebitis,DOID:12282,, +BMGC_DS04569,BMG_DS008462,Basilar Artery Stenosis,UMLS ID:C0265097,,,,,,,Vertebrobasilar Insufficiency,MeSH ID:D014715,,,, +BMGC_DS04570,BMG_DS008463,,UMLS ID:C0265098,,,,,basilar artery occlusion,MONDO:0001715,,,basilar artery occlusion,DOID:13446,, +BMGC_DS04571,BMG_DS008465,Carotid artery occlusion,UMLS ID:C0265101,"Carotid artery obstruction | Carotid artery obstruction (disorder) | Carotid artery occlusion (& [stenosis] or [thrombosis]) | Carotid artery thrombosis | Thrombosis, carotid artery | Stenosis, carotid artery | Carotid artery occlusion | Carotid artery occlusion (& [stenosis] or [thrombosis]) (disorder) | Carotid artery occlusion | Carotid artery occlusion (disorder) | Carotid artery occlusion | Occlusion of carotid artery (disorder) | Occlusion of carotid artery",SNOMEDCT ID:69798007 | SNOMEDCT ID:195181000 | SNOMEDCT ID:155397005 | SNOMEDCT ID:266254007,,,carotid artery occlusion,MONDO:0004450,,,,,, +BMGC_DS04572,BMG_DS008466,Vertebral Artery Stenosis,UMLS ID:C0265103,,,,,,,Vertebrobasilar Insufficiency,MeSH ID:D014715,,,, +BMGC_DS04573,BMG_DS008470,Cerebral Vasospasm,UMLS ID:C0265110,,,,,,,"Vasospasm, Intracranial",MeSH ID:D020301,,,, +BMGC_DS04574,BMG_DS008475,Acute cerebrovascular insufficiency,UMLS ID:C0265115,Acute cerebrovascular insufficiency | Acute cerebrovascular insufficiency (disorder),SNOMEDCT ID:29322000,,,,,,,,,ICD10 ID:I67.81, +BMGC_DS04575,BMG_DS008543,De Sanctis-Cacchione syndrome,UMLS ID:C0265201,"De Sanctis-Cacchione syndrome | De Sanctis-Cacchione syndrome (disorder) | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) | De Sanctis-Cacchione syndrome | Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa | Xerodermic idiocy",SNOMEDCT ID:254201008 | SNOMEDCT ID:414673004,,,de Sanctis-Cacchione syndrome,MONDO:0010217,,MeSH ID:C535992,De Sanctis-Cacchione syndrome,DOID:0112158,,OMIM ID:278800 +BMGC_DS04576,BMG_DS008544,Seckel syndrome,UMLS ID:C0265202,Seckel syndrome | Bird-headed dwarf of Seckel | Nanocephalic dwarf | Bird-headed dwarf | Seckel syndrome (disorder),SNOMEDCT ID:57917004,,,Seckel syndrome,MONDO:0019342,,,,,ICD10 ID:Q87.19, +BMGC_DS04577,BMG_DS008546,Robinow Syndrome,UMLS ID:C0265205,,,,,Robinow syndrome,MONDO:0019978,,MeSH ID:C562492,Robinow syndrome,DOID:0060254,, +BMGC_DS04578,BMG_DS008551,Weaver syndrome,UMLS ID:C0265210,Weaver syndrome | Weaver syndrome (disorder),SNOMEDCT ID:63119004,Overgrowth syndromes,ICD11 ID:LD2C,Weaver syndrome,MONDO:0010193,,MeSH ID:C536687,CLOVES syndrome,DOID:0080351,ICD10 ID:Q87.3,OMIM ID:277590 +BMGC_DS04579,BMG_DS008552,Marshall-Smith syndrome,UMLS ID:C0265211,"Marshall-Smith syndrome | Marshall-Smith syndrome (disorder) | Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome",SNOMEDCT ID:73284007,,,Marshall-Smith syndrome,MONDO:0011244,,MeSH ID:C536026,Marshall-Smith syndrome,DOID:0050858,,OMIM ID:602535 +BMGC_DS04580,BMG_DS008554,Distal arthrogryposis syndrome,UMLS ID:C0265213,Distal arthrogryposis syndrome | Distal arthrogryposis syndrome (disorder) | Distal arthrogryposis,SNOMEDCT ID:24269006,,,distal arthrogryposis,MONDO:0019942,,,,,, +BMGC_DS04581,BMG_DS008556,Meckel-Gruber syndrome,UMLS ID:C0265215,Meckel-Gruber syndrome | Dysencephalia splanchnocystica | Meckel-Gruber syndrome (disorder),SNOMEDCT ID:29076005,"Cystic or dysplastic kidney disease, unspecified",ICD11 ID:GB8Z,Meckel syndrome,MONDO:0018921,,,Meckel syndrome 6 | Meckel syndrome 5 | Meckel syndrome 1 | Meckel syndrome 2 | Meckel syndrome 4 | Meckel syndrome 3 | Meckel syndrome 8,DOID:0070119;DOID:0070118;DOID:0070115;DOID:0070120;DOID:0070117;DOID:0070116;DOID:0070122,ICD10 ID:Q61.9, +BMGC_DS04582,BMG_DS008557,X-linked hydrocephalus syndrome,UMLS ID:C0265216,X-linked hydrocephalus syndrome | Bickers-Adams syndrome | X-linked hydrocephalus | X-linked hydrocephalus syndrome (disorder),SNOMEDCT ID:71779008,,,X-linked hydrocephalus with stenosis of the aqueduct of Sylvius,MONDO:0010611,,,,,,OMIM ID:307000 +BMGC_DS04583,BMG_DS008559,Miller Dieker syndrome,UMLS ID:C0265219,Miller Dieker syndrome | Miller-Dieker syndrome | Miller-Dieker lissencephaly syndrome | Miller Dieker syndrome (disorder),SNOMEDCT ID:253148005,,,Miller-Dieker lissencephaly syndrome,MONDO:0009532,,,Miller-Dieker lissencephaly syndrome,DOID:0060469,,OMIM ID:247200 +BMGC_DS04584,BMG_DS008560,Pallister-Hall syndrome,UMLS ID:C0265220,Pallister-Hall syndrome | Pallister-Hall syndrome (disorder),SNOMEDCT ID:56677004,,,Pallister-Hall syndrome,MONDO:0007804,,,Pallister-Hall syndrome,DOID:9248,,OMIM ID:146510 +BMGC_DS04585,BMG_DS008561,Walker-Warburg congenital muscular dystrophy,UMLS ID:C0265221,"Walker-Warburg congenital muscular dystrophy | Walker-Warburg congenital muscular dystrophy (disorder) | Hydrocephalus, agyria and retinal dysplasia | Walker Warburg syndrome | HARD (hydrocephalus, agyria, retinal dysplasia) syndrome",SNOMEDCT ID:111504002,,,"muscular dystrophy-dystroglycanopathy, type A",MONDO:0000171,,,,,, +BMGC_DS04586,BMG_DS008562,Royer Syndrome,UMLS ID:C0265222,,,,,,,Prader-Willi Syndrome,MeSH ID:D011218,,,, +BMGC_DS04587,BMG_DS008563,,UMLS ID:C0265223,,,,,Cohen syndrome,MONDO:0008999,,,Cohen syndrome,DOID:0111590,,OMIM ID:216550 +BMGC_DS04588,BMG_DS008564,Freeman-Sheldon syndrome,UMLS ID:C0265224,Whistling face syndrome | Freeman-Sheldon syndrome | Whistling face syndrome (disorder) | Freeman-Sheldon syndrome | Whistling face syndrome | Freeman-Sheldon syndrome (disorder) | Distal arthrogryposis type 2A,SNOMEDCT ID:205799002 | SNOMEDCT ID:52616002,,,Freeman-Sheldon syndrome,MONDO:0008675,,MeSH ID:C535483,Freeman-Sheldon syndrome,DOID:0111604,,OMIM ID:193700 +BMGC_DS04589,BMG_DS008565,Hecht syndrome (disorder),UMLS ID:C0265226,Hecht syndrome | Trismus pseudocamptodactyly syndrome | Hecht syndrome (disorder) | Distal arthrogryposis type 7 | Dutch Kentucky syndrome | Hecht Beals syndrome,SNOMEDCT ID:8757006,,,trismus-pseudocamptodactyly syndrome,MONDO:0008016,,,,,,OMIM ID:158300 +BMGC_DS04590,BMG_DS008566,Schinzel-Giedion syndrome,UMLS ID:C0265227,Schinzel-Giedion syndrome | Schinzel-Giedion syndrome (disorder),SNOMEDCT ID:18899000,,,Schinzel-Giedion syndrome,MONDO:0010010,,MeSH ID:C536632,Schinzel Giedion syndrome,DOID:0070509,,OMIM ID:269150 +BMGC_DS04591,BMG_DS008570,Cryptophthalmos syndrome,UMLS ID:C0265233,"Fraser syndrome | Cryptophthalmos syndrome | Cryptophthalmos, defect of auricle AND genital anomaly | Fraser syndrome (disorder) | Cryptophthalmos syndrome | Cryptophthalmos syndrome (disorder) | Cryptophthalmos, defect of auricle AND genital anomaly | Fraser syndrome",SNOMEDCT ID:34169006 | SNOMEDCT ID:204102004,"Multiple developmental anomalies or syndromes, unspecified",ICD11 ID:LD2Z,Fraser syndrome,MONDO:0009046,,,Warburg micro syndrome 3 | Warburg micro syndrome 1 | Warburg micro syndrome 2 | Warburg micro syndrome 4,DOID:0110716;DOID:0110719;DOID:0110718;DOID:0110717,ICD10 ID:Q87.0, +BMGC_DS04592,BMG_DS008571,Branchio-Oto-Renal Syndrome,UMLS ID:C0265234,,,,,branchio-oto-renal syndrome,MONDO:0007029,Branchio-Oto-Renal Syndrome,MeSH ID:D019280,branchiootorenal syndrome,DOID:14702,, +BMGC_DS04593,BMG_DS008572,Marshall syndrome,UMLS ID:C0265235,Marshall syndrome | Marshall syndrome (disorder) | Marshall's syndrome,SNOMEDCT ID:33410002,,,Marshall syndrome,MONDO:0007949,,MeSH ID:C536025,Marshall syndrome,DOID:0111510,,OMIM ID:154780 +BMGC_DS04594,BMG_DS008574,Wildervanck's syndrome,UMLS ID:C0265239,Wildervanck's syndrome | Cervico-oculofacial syndrome | Wildervanck syndrome | Cervicooculoacoustic syndrome | Wildervanck syndrome (disorder),SNOMEDCT ID:79665007,,,Wildervanck syndrome,MONDO:0010759,,,,,,OMIM ID:314600 +BMGC_DS04595,BMG_DS008575,Goldenhar Syndrome,UMLS ID:C0265240,,,,,craniofacial microsomia,MONDO:0015397,Goldenhar Syndrome,MeSH ID:D006053,Goldenhar syndrome,DOID:2907,, +BMGC_DS04596,BMG_DS008577,,UMLS ID:C0265242,,,,,agnathia-otocephaly complex,MONDO:0008740,,,,,,OMIM ID:202650 +BMGC_DS04597,BMG_DS008579,Nager syndrome,UMLS ID:C0265245,Nager syndrome | Nager acrofacial dysostosis syndrome | Preaxial acrofacial dysostosis | Nager syndrome (disorder),SNOMEDCT ID:35520007,,,Nager acrofacial dysostosis,MONDO:0007943,,MeSH ID:C538184,,,,OMIM ID:154400 +BMGC_DS04598,BMG_DS008580,Townes syndrome,UMLS ID:C0265246,Townes syndrome | Townes syndrome (disorder) | Townes Brocks syndrome,SNOMEDCT ID:24750000,,,Townes-Brocks syndrome,MONDO:0007142,,,,,, +BMGC_DS04599,BMG_DS008581,Ruvalcaba Syndrome,UMLS ID:C0265248,,,,,Ruvalcaba syndrome,MONDO:0008395,,MeSH ID:C579395,,,,OMIM ID:180870 +BMGC_DS04600,BMG_DS008582,Mental retardation Mietens Weber type,UMLS ID:C0265249,,,,,Mietens syndrome,MONDO:0009582,,MeSH ID:C537444,,,,OMIM ID:249600 +BMGC_DS04601,BMG_DS008583,Oto-Palato-digital syndrome type 1,UMLS ID:C0265251,,,,,otopalatodigital syndrome type 1,MONDO:0010704,,MeSH ID:C536065,otopalatodigital syndrome type 1,DOID:0111783,,OMIM ID:311300 +BMGC_DS04602,BMG_DS008584,Coffin-Lowry syndrome,UMLS ID:C0265252,Coffin-Lowry syndrome | Coffin-Lowry syndrome (disorder) | CLS - Coffin-Lowry syndrome,SNOMEDCT ID:15182000,,,Coffin-Lowry syndrome,MONDO:0010561,,,Coffin-Lowry syndrome,DOID:3783,,OMIM ID:303600 +BMGC_DS04603,BMG_DS008585,Stickler syndrome (disorder),UMLS ID:C0265253,Stickler syndrome | Hereditary arthro-ophthalmopathy | Wagner-Stickler syndrome | Stickler dysplasia | Hereditary progressive arthro-ophthalmopathy | Stickler syndrome (disorder),SNOMEDCT ID:78675000,,,Stickler syndrome,MONDO:0019354,,,,,, +BMGC_DS04604,BMG_DS008586,Trichorhinophalangeal syndrome,UMLS ID:C0265255,Trichorhinophalangeal syndrome | Trichorhinophalangeal syndrome (disorder),SNOMEDCT ID:18077009,,,trichorhinophalangeal syndrome,MONDO:0017951,,,,,, +BMGC_DS04605,BMG_DS008587,Genee-Wiedemann syndrome,UMLS ID:C0265257,,,,,postaxial acrofacial dysostosis,MONDO:0009903,,MeSH ID:C537680,postaxial acrofacial dysostosis,DOID:0111259,,OMIM ID:263750 +BMGC_DS04606,BMG_DS008589,Popliteal pterygium syndrome,UMLS ID:C0265259,Popliteal pterygium syndrome | Popliteal pterygium syndrome (disorder) | Popliteal pterygium syndrome | PPS - Popliteal pterygium syndrome | Popliteal pterygium syndrome (disorder),SNOMEDCT ID:66783006 | SNOMEDCT ID:205820002,,,popliteal pterygium syndrome,MONDO:0017435,,,popliteal pterygium syndrome,DOID:0060055,, +BMGC_DS04607,BMG_DS008590,"Chondrodysplasia, Grebe type",UMLS ID:C0265260,,,,,acromesomelic dysplasia 2A,MONDO:0008703,,MeSH ID:C537915,,,,OMIM ID:200700 +BMGC_DS04608,BMG_DS008591,,UMLS ID:C0265261,,,,,autosomal recessive multiple pterygium syndrome,MONDO:0009926,,,,,,OMIM ID:265000 +BMGC_DS04609,BMG_DS008593,Femoral hypoplasia - unusual facies syndrome,UMLS ID:C0265263,Femoral hypoplasia - unusual facies syndrome | Femoral hypoplasia - unusual facies syndrome (disorder) | Femoral facial syndrome,SNOMEDCT ID:13280000,,,femoral-facial syndrome,MONDO:0007604,,,,,,OMIM ID:134780 +BMGC_DS04610,BMG_DS008594,Holt-Oram syndrome,UMLS ID:C0265264,Holt-Oram syndrome | Holt-Oram syndrome (disorder) | Holt-Oram syndrome | Holt-Oram syndrome (disorder) | Holt Oram syndrome | Heart-hand syndrome type 1 | Atriodigital dysplasia type 1,SNOMEDCT ID:205814003 | SNOMEDCT ID:19092004,"Multiple developmental anomalies or syndromes, unspecified",ICD11 ID:LD2Z,Holt-Oram syndrome,MONDO:0007732,,MeSH ID:C535326,Holt-Oram syndrome | split hand-foot malformation 1 with sensorineural hearing loss | microphthalmia with limb anomalies,DOID:0060861;DOID:0060468;DOID:0090024,ICD10 ID:Q87.2,OMIM ID:142900 +BMGC_DS04611,BMG_DS008595,Aase syndrome,UMLS ID:C0265265,Aase syndrome | Aase syndrome (disorder) | Blackfan-Diamond anemia | Blackfan-Diamond anaemia | Aase Smith II syndrome | Congenital hypoplastic anaemia Blackfan-Diamond type | Congenital pure red cell aplasia | Congenital hypoplastic anemia Blackfan-Diamond type,SNOMEDCT ID:71988008,,,,,,MeSH ID:C538442,Diamond-Blackfan anemia 6,DOID:0111879,, +BMGC_DS04612,BMG_DS008596,Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects,UMLS ID:C0265267,,,,,CHILD syndrome,MONDO:0010621,,MeSH ID:C562515,CHILD syndrome,DOID:0111822,,OMIM ID:308050 +BMGC_DS04613,BMG_DS008597,,UMLS ID:C0265268,,,,,Adams-Oliver syndrome,MONDO:0007034,,,Adams-Oliver syndrome,DOID:0060227,, +BMGC_DS04614,BMG_DS008598,Lacrimoauriculodentodigital syndrome,UMLS ID:C0265269,,,,,LADD syndrome,MONDO:0007872,,MeSH ID:C538132,,,, +BMGC_DS04615,BMG_DS008599,,UMLS ID:C0265273,,,,,achondrogenesis type IA,MONDO:0008701,,,,,,OMIM ID:200600 +BMGC_DS04616,BMG_DS008600,,UMLS ID:C0265274,,,,,achondrogenesis type IB,MONDO:0010966,,,,,,OMIM ID:600972 +BMGC_DS04617,BMG_DS008601,Jeune thoracic dystrophy,UMLS ID:C0265275,Jeune thoracic dystrophy | Asphyxiating thoracic dystrophy | Jeune thoracic dystrophy (disorder) | Jeune thoracic dysplasia | Jeune syndrome,SNOMEDCT ID:75049004,,,Jeune syndrome,MONDO:0018770,,,,,, +BMGC_DS04618,BMG_DS008602,Kniest dysplasia,UMLS ID:C0265279,Kniest dysplasia | Kniest dysplasia (disorder) | Kniest dysplasia | Kniest syndrome | Kniest chondrodystrophy | Swiss cheese cartilage dysplasia | Kniest dysplasia (disorder),SNOMEDCT ID:240191008 | SNOMEDCT ID:53974002,,,Kniest dysplasia,MONDO:0007987,,MeSH ID:C537207,Kniest dysplasia,DOID:0080045,,OMIM ID:156550 +BMGC_DS04619,BMG_DS008603,"Spondylometaphyseal dysplasia, Kozlowski type",UMLS ID:C0265280,,,,,"spondylometaphyseal dysplasia, Kozlowski type",MONDO:0008477,,MeSH ID:C535797,spondylometaphyseal dysplasia Kozlowski type,DOID:0111554,,OMIM ID:184252 +BMGC_DS04620,BMG_DS008604,,UMLS ID:C0265281,,,,,metatropic dysplasia,MONDO:0007986,,,metatropic dysplasia,DOID:0111514,,OMIM ID:156530 +BMGC_DS04621,BMG_DS008605,,UMLS ID:C0265282,,,,,fibrochondrogenesis,MONDO:0016068,,,fibrochondrogenesis,DOID:0060465,, +BMGC_DS04622,BMG_DS008606,,UMLS ID:C0265283,,,,,atelosteogenesis type I,MONDO:0007167,,,,,,OMIM ID:108720 +BMGC_DS04623,BMG_DS008607,Dyggve-Melchior-Clausen syndrome,UMLS ID:C0265286,Dyggve-Melchior-Clausen syndrome | Dyggve-Melchior-Clausen syndrome (disorder) | Dyggve-Melchior-Clausen dysplasia,SNOMEDCT ID:82699004,,,Dyggve-Melchior-Clausen disease,MONDO:0009130,,MeSH ID:C535726,,,,OMIM ID:223800 +BMGC_DS04624,BMG_DS008608,,UMLS ID:C0265287,,,,,Acromicric dysplasia,MONDO:0007055,,,acromicric dysplasia,DOID:0111243,,OMIM ID:102370 +BMGC_DS04625,BMG_DS008609,Metaphyseal chondrodysplasia Schmid type,UMLS ID:C0265289,,,,,Schmid metaphyseal chondrodysplasia,MONDO:0007983,,MeSH ID:C537352,,,,OMIM ID:156500 +BMGC_DS04626,BMG_DS008610,,UMLS ID:C0265290,,,,,metaphyseal chondrodysplasia,MONDO:0000138,,,,,, +BMGC_DS04627,BMG_DS008612,,UMLS ID:C0265292,,,,,craniometaphyseal dysplasia,MONDO:0015465,,,,,, +BMGC_DS04628,BMG_DS008613,,UMLS ID:C0265293,,,,,frontometaphyseal dysplasia,MONDO:0015942,,,frontometaphyseal dysplasia,DOID:0111785,, +BMGC_DS04629,BMG_DS008614,Pyle metaphyseal dysplasia,UMLS ID:C0265294,Pyle metaphyseal dysplasia | Pyle disease | Pyle's disease | Pyle metaphyseal dysplasia (disorder),SNOMEDCT ID:27837003,,,Pyle disease,MONDO:0009943,,,,,,OMIM ID:265900 +BMGC_DS04630,BMG_DS008615,Jansen type metaphyseal chondrodysplasia,UMLS ID:C0265295,,,,,"metaphyseal chondrodysplasia, Jansen type",MONDO:0007982,,MeSH ID:C537564,,,,OMIM ID:156400 +BMGC_DS04631,BMG_DS008619,Sclerosteosis,UMLS ID:C0265301,Sclerosteosis | Sclerosteosis (disorder),SNOMEDCT ID:17568006,,,sclerosteosis,MONDO:0017838,,MeSH ID:C537525,sclerosteosis,DOID:0060251,, +BMGC_DS04632,BMG_DS008621,,UMLS ID:C0265306,,,,,Greig cephalopolysyndactyly syndrome,MONDO:0008287,,,Greig cephalopolysyndactyly syndrome,DOID:14761,,OMIM ID:175700 +BMGC_DS04633,BMG_DS008622,Baller-Gerold syndrome,UMLS ID:C0265308,Baller-Gerold syndrome | Craniosynostosis-radial aplasia syndrome | Baller-Gerold syndrome (disorder),SNOMEDCT ID:77608001,,,Baller-Gerold syndrome,MONDO:0009039,,MeSH ID:C536788,Baller-Gerold syndrome,DOID:0050654,,OMIM ID:218600 +BMGC_DS04634,BMG_DS008623,Leri-Weill dyschondrosteosis,UMLS ID:C0265309,Leri-Weill dyschondrosteosis | Leri-Weill dyschondrosteosis (disorder) | Leri-Weill syndrome,SNOMEDCT ID:17818006,,,Leri-Weill dyschondrosteosis,MONDO:0007481,,,Leri-Weill dyschondrosteosis,DOID:0060847,,OMIM ID:127300 +BMGC_DS04635,BMG_DS008626,Weill-Marchesani syndrome,UMLS ID:C0265313,Weill-Marchesani syndrome | Brachydactyly-spherophakia syndrome | Marchesani's syndrome | Brachymorphy with spherophakia syndrome | Weill-Marchesani syndrome (disorder) | Spherophakia-brachymorphia syndrome | Marchesani syndrome | WMS - Weill-Marchesani syndrome | Weill-Marchesani syndrome | Spherophakia-brachymorphia syndrome | Marchesani syndrome (disorder),SNOMEDCT ID:2884008 | SNOMEDCT ID:205801004,,,Weill-Marchesani syndrome,MONDO:0018096,,,Weill-Marchesani syndrome,DOID:0050475,, +BMGC_DS04636,BMG_DS008628,Neurocutaneous Syndromes,UMLS ID:C0265316,,,,,neurocutaneous syndrome,MONDO:0042983,Neurocutaneous Syndromes,MeSH ID:D020752,,,, +BMGC_DS04637,BMG_DS008631,,UMLS ID:C0265323,,,,,,,,,Peutz-Jeghers syndrome,DOID:3852,, +BMGC_DS04638,BMG_DS008633,Bannayan-Riley-Ruvalcaba Syndrome,UMLS ID:C0265326,,,,,Bannayan-Riley-Ruvalcaba syndrome,MONDO:0007924,"Hamartoma Syndrome, Multiple",MeSH ID:D006223,Bannayan-Riley-Ruvalcaba syndrome,DOID:0050657,,OMIM ID:153480 +BMGC_DS04639,BMG_DS008635,Organoid Nevus Phakomatosis,UMLS ID:C0265329,,,,,,,"Nevus, Sebaceous of Jadassohn",MeSH ID:D054000,,,, +BMGC_DS04640,BMG_DS008636,Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder),UMLS ID:C0265331,Autosomal dominant hypohidrotic ectodermal dysplasia syndrome | Rapp-Hodgkin ectodermal dysplasia syndrome | Anhidrotic ectodermal dysplasia | Rapp-Hodgkin type of ectodermal dysplasia | Anhidrotic ectodermal dysplasia syndrome | Hypohidrotic ectodermal dysplasia syndrome | Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder),SNOMEDCT ID:7731005,,,autosomal dominant hypohidrotic ectodermal dysplasia,MONDO:0015884,,,,,, +BMGC_DS04641,BMG_DS008637,Tricho-dento-osseous syndrome (disorder),UMLS ID:C0265333,Tricho-dento-osseous syndrome | TDO syndrome | Amelogenesis imperfecta - osteosclerosis syndrome | Taurodontism - curly hair - osteosclerosis syndrome | Tricho-dento-osseous syndrome (disorder) | TDO - Trichodento-osseous syndrome | Trichodento-osseous syndrome,SNOMEDCT ID:38993008,,,tricho-dento-osseous syndrome,MONDO:0008592,,,trichodontoosseous syndrome,DOID:0111565,,OMIM ID:190320 +BMGC_DS04642,BMG_DS008638,Pachyonychia Congenita,UMLS ID:C0265334,,,,,pachyonychia congenita,MONDO:0016471,Pachyonychia Congenita,MeSH ID:D053549,pachyonychia congenita,DOID:0050449,, +BMGC_DS04643,BMG_DS008640,Senter syndrome,UMLS ID:C0265336,"Senter syndrome | Senter syndrome (disorder) | Autosomal dominant keratitis, ichthyosis, deafness syndrome | Autosomal dominant KID (keratitis, ichthyosis, deafness) syndrome",SNOMEDCT ID:2625009,,,autosomal dominant keratitis-ichthyosis-hearing loss syndrome,MONDO:0007850,,,,,,OMIM ID:148210 +BMGC_DS04644,BMG_DS008641,Coffin-Siris syndrome,UMLS ID:C0265338,Coffin-Siris syndrome | Coffin-Siris syndrome (disorder),SNOMEDCT ID:10007009,,,Coffin-Siris syndrome,MONDO:0015452,,MeSH ID:C536436,Coffin-Siris syndrome,DOID:1925,, +BMGC_DS04645,BMG_DS008642,Borjeson-Forssman-Lehmann syndrome,UMLS ID:C0265339,Borjeson-Forssman-Lehmann syndrome | Borjeson-Forssman-Lehmann syndrome (disorder) | Borjeson syndrome,SNOMEDCT ID:21634003,,,Borjeson-Forssman-Lehmann syndrome,MONDO:0010537,,MeSH ID:C536575,Borjeson-Forssman-Lehmann syndrome,DOID:0050681,,OMIM ID:301900 +BMGC_DS04646,BMG_DS008643,Rieger syndrome,UMLS ID:C0265341,Rieger syndrome | Rieger syndrome (disorder) | Rieger's syndrome | Rieger anomaly,SNOMEDCT ID:47507006,,,Rieger anomaly,MONDO:0019628,,,Axenfeld-Rieger syndrome,DOID:14686,, +BMGC_DS04647,BMG_DS008644,Cerebrocostomandibular Syndrome,UMLS ID:C0265342,,,,,cerebrocostomandibular syndrome,MONDO:0007301,,MeSH ID:C562538,cerebrocostomandibular syndrome,DOID:0111248,,OMIM ID:117650 +BMGC_DS04648,BMG_DS008645,Jarcho-Levin syndrome,UMLS ID:C0265343,Jarcho-Levin syndrome | Spondylothoracic dysplasia | Jarcho-Levin syndrome (disorder) | Autosomal recessive spondylocostal dysostosis,SNOMEDCT ID:61367005,,,spondylocostal dysostosis,MONDO:0000359,,MeSH ID:C537565,,,, +BMGC_DS04649,BMG_DS008646,Donohue Syndrome,UMLS ID:C0265344,,,,,Donohue syndrome,MONDO:0009517,Donohue Syndrome,MeSH ID:D056731,Donohue syndrome,DOID:0050470,,OMIM ID:246200 +BMGC_DS04650,BMG_DS008647,Lymphedema distichiasis syndrome,UMLS ID:C0265345,,,,,lymphedema-distichiasis syndrome,MONDO:0007922,,MeSH ID:C537710,lymphedema-distichiasis syndrome,DOID:0111509,,OMIM ID:153400 +BMGC_DS04651,BMG_DS008653,CHARGE Syndrome,UMLS ID:C0265354,,,,,CHARGE syndrome,MONDO:0008965,CHARGE Syndrome,MeSH ID:D058747,CHARGE syndrome,DOID:0050834,,OMIM ID:214800 +BMGC_DS04652,BMG_DS008663,Warfarin syndrome,UMLS ID:C0265374,,,,,vitamin K-antagonist embryofetopathy,MONDO:0016010,,MeSH ID:C536683,,,, +BMGC_DS04653,BMG_DS008724,Pallister-Killian syndrome,UMLS ID:C0265449,Killian-Teschler-Nicola syndrome | Pallister mosaic syndrome | Pallister-Killian syndrome | Isochromosome 12p syndrome | Tetrasomy 12p syndrome (disorder) | Tetrasomy 12p syndrome | Pallister-Killian syndrome (disorder) | Pallister-Killian syndrome | Tetrasomy 12p | Killian-Teschler-Nicola syndrome | Pallister mosaic syndrome | Pallister-Killian syndrome | Pallister-Killian syndrome (disorder),SNOMEDCT ID:9527009 | SNOMEDCT ID:395657006 | SNOMEDCT ID:395652000,,,tetrasomy 12p,MONDO:0011146,,,,,,OMIM ID:601803 +BMGC_DS04654,BMG_DS008757,,UMLS ID:C0265482,,,,,ring chromosome 20,MONDO:0015436,,,ring chromosome 20 syndrome,DOID:0070622,, +BMGC_DS04655,BMG_DS008768,Cat eye syndrome,UMLS ID:C0265493,Cat eye syndrome | Schachenmann's syndrome | Cat eye syndrome (disorder) | CES - Cat eye syndrome,SNOMEDCT ID:26445008,,,cat-eye syndrome,MONDO:0007276,,,,,,OMIM ID:115470 +BMGC_DS04656,BMG_DS008774,"49,XXXXY Syndrome",UMLS ID:C0265499,,,,,"49,XXXXY syndrome",MONDO:0019929,Klinefelter Syndrome,MeSH ID:D007713,,,, +BMGC_DS04657,BMG_DS008778,Dermatofibrosis lenticularis disseminata,UMLS ID:C0265514,Dermatofibrosis lenticularis disseminata | Buschke-Ollendorf syndrome | Dermato-osteopoikilosis | Dermatofibrosis lenticularis disseminata (disorder) | Disseminated dermatofibrosis,SNOMEDCT ID:60399005,,,Buschke-Ollendorff syndrome,MONDO:0008157,,,Buschke-Ollendorff syndrome,DOID:0111536,,OMIM ID:166700 +BMGC_DS04658,BMG_DS008779,,UMLS ID:C0265535,,,,,trigonocephaly,MONDO:0000156,,,,,, +BMGC_DS04659,BMG_DS008780,,UMLS ID:C0265552,,,,,megalodactyly,MONDO:0007962,,,,,,OMIM ID:155500 +BMGC_DS04660,BMG_DS008781,,UMLS ID:C0265554,,,,,split hand-foot malformation,MONDO:0016576,,,split hand-foot malformation 4 | split hand-foot malformation 2 | split hand-foot malformation 3 | split hand-foot malformation 6 | split hand-foot malformation | split hand-foot malformation 5,DOID:0090020;DOID:0090023;DOID:0090027;DOID:0090026;DOID:0090025;DOID:0090022,, +BMGC_DS04661,BMG_DS008782,,UMLS ID:C0265559,,,,,acheiropody,MONDO:0008700,,,,,,OMIM ID:200500 +BMGC_DS04662,BMG_DS008783,,UMLS ID:C0265561,,,,,congenital elbow dislocation,MONDO:0017469,,,,,, +BMGC_DS04663,BMG_DS008784,,UMLS ID:C0265562,,,,,congenital shoulder dislocation,MONDO:0017468,,,,,, +BMGC_DS04664,BMG_DS008790,,UMLS ID:C0265581,,,,,radial hemimelia,MONDO:0019671,,,,,, +BMGC_DS04665,BMG_DS008798,,UMLS ID:C0265610,,,,,familial isolated clinodactyly of fingers,MONDO:0017461,,,,,, +BMGC_DS04666,BMG_DS008803,,UMLS ID:C0265633,,,,,tibial hemimelia,MONDO:0010144,,,,,,OMIM ID:275220 +BMGC_DS04667,BMG_DS008812,Gastroschisis,UMLS ID:C0265706,Gastroschisis | Gastroschisis (disorder),SNOMEDCT ID:72951007,Gastroschisis,ICD11 ID:LB02,gastroschisis,MONDO:0009264,Gastroschisis,MeSH ID:D020139,gastroschisis,DOID:11044,ICD10 ID:Q79.3,OMIM ID:MTHU009129 | OMIM ID:230750 +BMGC_DS04668,BMG_DS008816,,UMLS ID:C0265756,,,,,larynx atresia,MONDO:0007879,,,,,,OMIM ID:150300 +BMGC_DS04669,BMG_DS008819,,UMLS ID:C0265780,,,,,pulmonary agenesis,MONDO:0020110,,,,,, +BMGC_DS04670,BMG_DS008820,,UMLS ID:C0265783,,,,,pulmonary hypoplasia,MONDO:0800133,,,,,, +BMGC_DS04671,BMG_DS008822,,UMLS ID:C0265797,,,,,congenital lobar emphysema,MONDO:0007536,,,,,,OMIM ID:130710 +BMGC_DS04672,BMG_DS008829,,UMLS ID:C0265843,,,,,aortic valve atresia,MONDO:0019808,,,,,, +BMGC_DS04673,BMG_DS008836,,UMLS ID:C0265857,,,,,Uhl anomaly,MONDO:0018084,,,,,, +BMGC_DS04674,BMG_DS008853,Erythrokeratodermia variabilis,UMLS ID:C0265961,Erythrokeratodermia variabilis | Erythrokeratodermia variabilis (disorder) | Congenital poikiloderma | Mendes da Costa syndrome,SNOMEDCT ID:70041004,,,erythrokeratodermia variabilis,MONDO:0017851,,,erythrokeratodermia variabilis,DOID:0050467,, +BMGC_DS04675,BMG_DS008854,Ichthyosis linearis circumflexa,UMLS ID:C0265962,Netherton's syndrome | Comel-Netherton syndrome | Axial osteosclerosis with bamboo hair | Netherton syndrome | Netherton syndrome (disorder) | Ichthyosis linearis circumflexa | Ichthyosis linearis circumflexa (disorder),SNOMEDCT ID:312514006 | SNOMEDCT ID:54336006,,,ichthyosis linearis circumflexa,MONDO:0043106,,,Netherton syndrome,DOID:0050474,,OMIM ID:MTHU010704 +BMGC_DS04676,BMG_DS008855,,UMLS ID:C0265964,,,,,keratoderma hereditarium mutilans,MONDO:0007422,,,Vohwinkel syndrome,DOID:0111339,,OMIM ID:124500 +BMGC_DS04677,BMG_DS008856,Dyskeratosis Congenita,UMLS ID:C0265965,,,,,dyskeratosis congenita,MONDO:0015780,Dyskeratosis Congenita,MeSH ID:D019871,dyskeratosis congenita,DOID:2729,, +BMGC_DS04678,BMG_DS008857,Hereditary benign intraepithelial dyskeratosis,UMLS ID:C0265966,Hereditary benign intraepithelial dyskeratosis | Witkop's disease | Witkop-Von Sallmann disease | Witkop's syndrome | Witkop-Brearley-Gentry syndrome | Witkop-von Sallman syndrome | Hereditary benign intraepithelial dyskeratosis (disorder) | Hereditary benign intraepithelial dyskeratosis (disorder) | Hereditary benign intraepithelial dyskeratosis | Witkop-von Sallman syndrome | Witkop-Von Sallmann disease,SNOMEDCT ID:68897000 | SNOMEDCT ID:400014002,,,hereditary benign intraepithelial dyskeratosis,MONDO:0007486,,,,,,OMIM ID:127600 +BMGC_DS04679,BMG_DS008858,"Porokeratosis, Disseminated Superficial Actinic",UMLS ID:C0265970,,,,,disseminated superficial actinic porokeratosis,MONDO:0019212,Porokeratosis,MeSH ID:D017499,porokeratosis,DOID:3805,, +BMGC_DS04680,BMG_DS008859,Acrokeratosis Verruciformis of Hopf,UMLS ID:C0265971,,,,,acrokeratosis verruciformis,MONDO:0007048,Darier Disease,MeSH ID:D007644,,,,OMIM ID:101900 +BMGC_DS04681,BMG_DS008862,,UMLS ID:C0265985,,,,,mongolian spot,MONDO:0006582,,,mongolian spot,DOID:4702,, +BMGC_DS04682,BMG_DS008863,,UMLS ID:C0265987,,,,,nevus comedonicus syndrome,MONDO:0014873,,,,,,OMIM ID:617025 +BMGC_DS04683,BMG_DS008867,,UMLS ID:C0265998,,,,,nonsyndromic congenital nail disorder 4,MONDO:0008798,,,,,,OMIM ID:206800 +BMGC_DS04684,BMG_DS008868,,UMLS ID:C0266000,,,,,nonsyndromic congenital nail disorder 2,MONDO:0007867,,,,,,OMIM ID:149300 +BMGC_DS04685,BMG_DS008869,"Knuckle pads, leuconychia and sensorineural deafness",UMLS ID:C0266004,,,,,Bart-Pumphrey syndrome,MONDO:0007866,,MeSH ID:C537210,,,,OMIM ID:149200 +BMGC_DS04686,BMG_DS008870,Pili torti-deafness syndrome,UMLS ID:C0266006,Pili torti-deafness syndrome | Bjornstad's syndrome | Pili torti-deafness syndrome (disorder),SNOMEDCT ID:67817003,,,Bjornstad syndrome,MONDO:0009872,,,Bjornstad syndrome,DOID:0050677,,OMIM ID:262000 +BMGC_DS04687,BMG_DS008872,,UMLS ID:C0266011,,,,,familial supernumerary nipples,MONDO:0008101,,,,,,OMIM ID:163700 +BMGC_DS04688,BMG_DS008875,,UMLS ID:C0266029,,,,,Paramolar tubercle of bolk,MONDO:0008194,,,,,,OMIM ID:168200 +BMGC_DS04689,BMG_DS008877,Taurodontism,UMLS ID:C0266039,Taurodontism | Taurodontism (disorder),SNOMEDCT ID:51744007,Abnormalities of size or form of teeth,ICD11 ID:LA30.4,taurodontism,MONDO:0010098,,MeSH ID:C536946,,,ICD10 ID:K00.2,OMIM ID:272700 | OMIM ID:MTHU007744 +BMGC_DS04690,BMG_DS008889,,UMLS ID:C0266159,,,,,pyloric atresia,MONDO:0009944,,,,,,OMIM ID:265950 +BMGC_DS04691,BMG_DS008890,,UMLS ID:C0266172,,,,,atresia of small intestine,MONDO:0009476,,,,,,OMIM ID:243600 +BMGC_DS04692,BMG_DS008891,,UMLS ID:C0266174,,,,,duodenal atresia,MONDO:0009126,,,,,,OMIM ID:223400 +BMGC_DS04693,BMG_DS008897,,UMLS ID:C0266251,,,,,isolated agenesis of gallbladder,MONDO:0007642,,,,,,OMIM ID:137040 +BMGC_DS04694,BMG_DS008900,,UMLS ID:C0266283,,,,,thyroid ectopia,MONDO:0019854,,,,,, +BMGC_DS04695,BMG_DS008901,,UMLS ID:C0266294,,,,,"renal agenesis, unilateral",MONDO:0019636,,,,,, +BMGC_DS04696,BMG_DS008902,,UMLS ID:C0266295,,,,,renal hypoplasia,MONDO:0019637,,,,,, +BMGC_DS04697,BMG_DS008903,Allanson Pantzar McLeod syndrome,UMLS ID:C0266313,Renal tubular dysgenesis (disorder) | Primitive renal tubule syndrome | Allanson Pantzar McLeod syndrome | Renal tubular dysgenesis,SNOMEDCT ID:702397002,,,renal tubular dysgenesis,MONDO:0017609,,MeSH ID:C537048,,,, +BMGC_DS04698,BMG_DS008909,"Hermaphroditism, True",UMLS ID:C0266361,,,,,true hermaphroditism,MONDO:0002768,Ovotesticular Disorders of Sex Development,MeSH ID:D050090,,,, +BMGC_DS04699,BMG_DS008910,,UMLS ID:C0266383,,,,,uterine anomalies,MONDO:0008635,,,,,,OMIM ID:192000 +BMGC_DS04700,BMG_DS008917,Testicular regression syndrome,UMLS ID:C0266427,Testicular regression syndrome | Vanishing testes syndrome | Testicular regression - embryonic | XY Gonadal agenesis syndrome | Testicular regression syndrome (disorder) | Testicular regression syndrome | XY Gonadal agenesis syndrome | Testicular regression - embryonic | Testicular regression syndrome (disorder),SNOMEDCT ID:53599007 | SNOMEDCT ID:236797008,,,"46,XY sex reversal 11",MONDO:8000015,,MeSH ID:C537770,,,,OMIM ID:273250 +BMGC_DS04701,BMG_DS008918,,UMLS ID:C0266432,,,,,"Leydig cell hypoplasia, type 1",MONDO:0009384,,,,,,OMIM ID:238320 +BMGC_DS04702,BMG_DS008920,,UMLS ID:C0266463,,,,,lissencephaly spectrum disorders,MONDO:0018838,,,lissencephaly,DOID:0050453,, +BMGC_DS04703,BMG_DS008921,,UMLS ID:C0266464,,,,,polymicrogyria,MONDO:0000087,,,,,, +BMGC_DS04704,BMG_DS008922,,UMLS ID:C0266468,,,,,,,,,pontocerebellar hypoplasia,DOID:0060264,, +BMGC_DS04705,BMG_DS008924,,UMLS ID:C0266483,,,,,,,,,lissencephaly,DOID:0050453,, +BMGC_DS04706,BMG_DS008925,,UMLS ID:C0266484,,,,,schizencephaly,MONDO:0010011,,,,,,OMIM ID:269160 +BMGC_DS04707,BMG_DS008926,Etat Marbre,UMLS ID:C0266487,,,,,,,Movement Disorders,MeSH ID:D009069,,,, +BMGC_DS04708,BMG_DS008928,Neuronal heterotopia,UMLS ID:C0266491,Neuronal heterotopia | Neuronal heterotopia (disorder) | Neuronal heterotopia (morphologic abnormality) | Cortical heterotopia | Grey matter heterotopia | Neuronal heterotopia | Gray matter heterotopia,SNOMEDCT ID:253150002 | SNOMEDCT ID:448041008,,,,,,,,,,OMIM ID:MTHU060692 +BMGC_DS04709,BMG_DS008932,Marcus Gunn phenomenon,UMLS ID:C0266521,,,,,jaw-winking syndrome,MONDO:0007946,,MeSH ID:C535908,jaw-winking syndrome,DOID:560,,OMIM ID:154600 +BMGC_DS04710,BMG_DS008933,,UMLS ID:C0266526,,,,,Norrie disease,MONDO:0010691,,,Norrie disease,DOID:0060844,,OMIM ID:310600 +BMGC_DS04711,BMG_DS008936,,UMLS ID:C0266537,,,,,cataract 5 multiple types,MONDO:0007290,,,,,,OMIM ID:116800 +BMGC_DS04712,BMG_DS008937,,UMLS ID:C0266539,,,,,total early-onset cataract,MONDO:0021548,,,,,, +BMGC_DS04713,BMG_DS008938,,UMLS ID:C0266548,,,,,Axenfeld anomaly,MONDO:0020368,,,,,, +BMGC_DS04714,BMG_DS008939,,UMLS ID:C0266568,,,,,persistent hyperplastic primary vitreous,MONDO:0019631,,,persistent hyperplastic primary vitreous,DOID:0060282,, +BMGC_DS04715,BMG_DS008940,,UMLS ID:C0266573,,,,,,,,,congenital ptosis,DOID:0060261,, +BMGC_DS04716,BMG_DS008944,,UMLS ID:C0266589,,,,,ear malformation,MONDO:0007500,,,,,,OMIM ID:128600 +BMGC_DS04717,BMG_DS008947,,UMLS ID:C0266667,,,,,holoprosencephaly 1,MONDO:0009349,,,,,,OMIM ID:236100 +BMGC_DS04718,BMG_DS008957,Compression of umbilical cord,UMLS ID:C0266798,Compression of umbilical cord | Compression of umbilical cord (disorder),SNOMEDCT ID:79222000,,,,,,,,,, +BMGC_DS04719,BMG_DS008976,"Visceral Myopathy, Familial",UMLS ID:C0266833,,,,,familial visceral myopathy,MONDO:0016829,,MeSH ID:C562574,,,, +BMGC_DS04720,BMG_DS008981,Dental caries extending into dentin,UMLS ID:C0266846,Dental caries extending into dentine | Dentine caries | Dentin caries | Dental caries extending into dentin | Dental caries extending into dentin (disorder),SNOMEDCT ID:442551007,,,dentin caries,MONDO:0001041,,,dentin caries,DOID:10461,, +BMGC_DS04721,BMG_DS008985,Enamel caries,UMLS ID:C0266853,Enamel caries | Simple dental caries | Dental caries confined to enamel | Simple dental cavity | Enamel caries (disorder) | Cavitated lesion limited to enamel,SNOMEDCT ID:80353004,,,enamel caries,MONDO:0002233,,,enamel caries,DOID:217,, +BMGC_DS04722,BMG_DS009004,External resorption of tooth,UMLS ID:C0266878,External resorption of tooth | Pathological tooth resorption - external | External resorption of root of tooth | External resorption of tooth (disorder),SNOMEDCT ID:41918006,,,external pathological resorption,MONDO:0001988,,,external pathological resorption,DOID:14529,, +BMGC_DS04723,BMG_DS009018,Periapical abscess with sinus,UMLS ID:C0266909,,,Periapical abscess with sinus,ICD11 ID:DA09.61,,,,,dental abscess,DOID:0060324,ICD10 ID:K04.6, +BMGC_DS04724,BMG_DS009022,Localized gingival recession,UMLS ID:C0266916,Localized gingival recession | Localised gingival recession | Localized gingival recession (disorder),SNOMEDCT ID:59898000,,,,,,,gingival recession,DOID:1134,, +BMGC_DS04725,BMG_DS009025,Epulides,UMLS ID:C0266919,,,,,epulis,MONDO:0003396,Gingival Diseases,MeSH ID:D005882,epulis,DOID:5337,, +BMGC_DS04726,BMG_DS009033,Chronic Periodontitis,UMLS ID:C0266929,,,,,"periodontitis, chronic, adult | chronic periodontitis",MONDO:0009850;MONDO:0005593,Chronic Periodontitis,MeSH ID:D055113,,,,OMIM ID:260950 +BMGC_DS04727,BMG_DS009077,Benign lymphoepithelial lesion of salivary gland,UMLS ID:C0266995,Benign lymphoepithelial lesion of salivary gland | Benign lymphoepithelial salivary gland lesion | Benign lymphoepithelial lesion of salivary gland (disorder),SNOMEDCT ID:45517002,"Diseases of salivary glands, unspecified",ICD11 ID:DA04.Z,benign lymphoepithelial lesion of salivary gland,MONDO:0001598,,,benign lymphoepithelial lesion of salivary gland,DOID:12899,ICD10 ID:K11.8, +BMGC_DS04728,BMG_DS009080,Vesicular Stomatitis,UMLS ID:C0266999,,,,,vesicular stomatitis,MONDO:0025028,Vesicular Stomatitis,MeSH ID:D054243,,,, +BMGC_DS04729,BMG_DS009095,Actinic cheilitis,UMLS ID:C0267026,Actinic cheilitis | Actinic cheilitis (disorder) | Actinic cheilitis | Solar keratosis of lip | Actinic cheilitis (disorder),SNOMEDCT ID:200839009 | SNOMEDCT ID:46795000,,,actinic cheilitis,MONDO:0043300,,MeSH ID:C535669,,,, +BMGC_DS04730,BMG_DS009114,Erosive esophagitis,UMLS ID:C0267055,Erosive esophagitis | Erosive oesophagitis | Erosive esophagitis (disorder),SNOMEDCT ID:40719004,,,,,,,,,, +BMGC_DS04731,BMG_DS009126,Oropharyngeal Dysphagia,UMLS ID:C0267071,,,,,,,Deglutition Disorders,MeSH ID:D003680,,,, +BMGC_DS04732,BMG_DS009127,Esophageal Dysphagia,UMLS ID:C0267072,,,,,,,Deglutition Disorders,MeSH ID:D003680,,,, +BMGC_DS04733,BMG_DS009136,,UMLS ID:C0267095,,,,,esophageal leukoplakia,MONDO:0004697,,,esophageal leukoplakia,DOID:9021,, +BMGC_DS04734,BMG_DS009146,Acute gastric mucosal erosion,UMLS ID:C0267112,Acute gastric mucosal erosion | Acute erosion of stomach | Acute gastric mucosal erosion (disorder),SNOMEDCT ID:18665000,,,,,,,,,, +BMGC_DS04735,BMG_DS009184,Eosinophilic gastritis,UMLS ID:C0267154,Eosinophilic gastritis | Eosinophilic gastritis (disorder),SNOMEDCT ID:66329006 | SNOMEDCT ID:196738004,,,eosinophilic gastritis,MONDO:0002840,,MeSH ID:C535952,eosinophilic gastritis,DOID:4030,, +BMGC_DS04736,BMG_DS009203,Gastroparesis due to diabetes mellitus,UMLS ID:C0267176,Gastroparesis due to diabetes mellitus (disorder) | Gastroparesis due to diabetes mellitus | Gastroparesis with diabetes mellitus,SNOMEDCT ID:713704004,,,,,,,,,, +BMGC_DS04737,BMG_DS009207,Cascade stomach,UMLS ID:C0267183,Cascade stomach | Cascade stomach (disorder),SNOMEDCT ID:54051005,,,cascade stomach,MONDO:0001469,,,cascade stomach,DOID:12234,, +BMGC_DS04738,BMG_DS009227,Gastric Antral Vascular Ectasia,UMLS ID:C0267211,,,,,gastric antral vascular ectasia,MONDO:0006767,Gastric Antral Vascular Ectasia,MeSH ID:D020252,gastric antral vascular ectasia,DOID:2493,, +BMGC_DS04739,BMG_DS009295,Acute peptic ulcer with hemorrhage,UMLS ID:C0267288,Acute peptic ulcer with haemorrhage | Acute peptic ulcer with hemorrhage | Acute peptic ulcer with hemorrhage (disorder) | Acute peptic ulcer with hemorrhage | Acute peptic ulcer with haemorrhage | Acute peptic ulcer with hemorrhage (disorder) | Acute peptic ulcer with haemorrhage | Acute peptic ulcer with hemorrhage | Acute peptic ulcer with haemorrhage (disorder),SNOMEDCT ID:196684004 | SNOMEDCT ID:12274003 | SNOMEDCT ID:155702008,,,,,,,,,, +BMGC_DS04740,BMG_DS009344,Angiodysplasia of intestine,UMLS ID:C0267367,Angiodysplasia of intestine | Intestinal vascular dysplasia | Angiodysplasia of intestine (disorder) | Angiectasia of intestine | Vascular ectasia of intestine,SNOMEDCT ID:235853006,,,angiodysplasia of intestine,MONDO:0001138,,,angiodysplasia of intestine,DOID:10846,, +BMGC_DS04741,BMG_DS009350,Chronic colitis,UMLS ID:C0267375,Chronic colitis | Chronic colitis (disorder),SNOMEDCT ID:54597004,,,,,,,,,, +BMGC_DS04742,BMG_DS009360,Severe chronic ulcerative colitis,UMLS ID:C0267387,Severe chronic ulcerative colitis | Fulminant ulcerative colitis | Severe chronic ulcerative colitis (disorder),SNOMEDCT ID:14311001,,,,,,,,,, +BMGC_DS04743,BMG_DS009363,Chronic ulcerative rectosigmoiditis,UMLS ID:C0267390,Chronic ulcerative rectosigmoiditis | Chronic ulcerative proctosigmoiditis | Ulcerative rectosigmoiditis | Ulcerative colitis confined to rectum and sigmoid colon | Ulcerative proctosigmoiditis | Chronic ulcerative rectosigmoiditis (disorder),SNOMEDCT ID:52506002,,,ulcerative proctosigmoiditis,MONDO:0007005,,,,,, +BMGC_DS04744,BMG_DS009405,Non-infective diarrhea,UMLS ID:C0267436,Non-infective diarrhea | Non-infective diarrhoea | Non-infective diarrhea (disorder) | Presumed non-infectious diarrhoea | Presumed non-infectious diarrhea,SNOMEDCT ID:69980003,,,non-infectious diarrheal disease,MONDO:0045030,,,,,, +BMGC_DS04745,BMG_DS009427,Stenosis of intestine,UMLS ID:C0267465,Stenosis of intestine | Enterostenosis | Stenosis of intestine (disorder),SNOMEDCT ID:23065003,,,,,,,,,, +BMGC_DS04746,BMG_DS009444,Ulceration of colon,UMLS ID:C0267491,Ulceration of colon | Ulceration of colon (disorder) | Ulceration of colon | Colonic ulcer | Ulceration of colon (disorder),SNOMEDCT ID:197253001 | SNOMEDCT ID:46040000,,,,,,,,,, +BMGC_DS04747,BMG_DS009450,Meckel's diverticulitis,UMLS ID:C0267497,Meckel's diverticulitis | Meckel's diverticulitis (disorder) | Meckel diverticulitis,SNOMEDCT ID:48241004,,,Meckel diverticulitis,MONDO:0004551,,,Meckel's diverticulitis,DOID:8408,, +BMGC_DS04748,BMG_DS009455,Diverticulitis of small intestine,UMLS ID:C0267502,Diverticulitis of small intestine | Diverticulitis of small intestine (disorder),SNOMEDCT ID:56165008 | SNOMEDCT ID:280991008,,,small intestine diverticulitis,MONDO:0001229,,,small intestine diverticulitis,DOID:11223,, +BMGC_DS04749,BMG_DS009461,Chronic idiopathic constipation,UMLS ID:C0267509,Chronic idiopathic constipation | Chronic idiopathic constipation (disorder),SNOMEDCT ID:82934008,,,,,,,,,ICD10 ID:K59.04, +BMGC_DS04750,BMG_DS009504,Drug and toxin-induced diarrhea,UMLS ID:C0267558,Drug AND/OR toxin-induced diarrhea | Drug AND/OR toxin-induced diarrhoea | Drug AND/OR toxin-induced diarrhea (disorder),SNOMEDCT ID:65979008,,,,,,,,,, +BMGC_DS04751,BMG_DS009580,Congenital chloride diarrhea,UMLS ID:C0267662,"Congenital secretory diarrhea, chloride type | Congenital chloridorrhea | Defective Cl^-^/HCO^-^>3< exchange in ileum AND/OR colon | Congenital chloridorrhoea | Congenital secretory diarrhoea, chloride type | Congenital secretory diarrhea, chloride type (disorder) | Congenital chloride diarrhoea | Congenital chloride diarrhea",SNOMEDCT ID:24412005,,,congenital secretory chloride diarrhea 1,MONDO:0008964,,MeSH ID:C536210,congenital secretory chloride diarrhea 1,DOID:0060296,,OMIM ID:214700 +BMGC_DS04752,BMG_DS009581,"Congenital secretory diarrhea, sodium type (disorder)",UMLS ID:C0267663,"Congenital secretory diarrhea, sodium type | Congenital sodium diarrhea | Defective Na^+^/H^+^ exchange in jejunum AND/OR ileum | Congenital secretory diarrhoea, sodium type | Congenital sodium diarrhoea | Congenital secretory diarrhea, sodium type (disorder) | Non-syndromic congenital sodium diarrhoea | Non-syndromic congenital sodium diarrhea",SNOMEDCT ID:18805001,,,congenital sodium diarrhea,MONDO:0015170,,,,,, +BMGC_DS04753,BMG_DS009603,Paraesophageal hernia,UMLS ID:C0267725,Paraesophageal hernia | Thoracic stomach | Gastroesophageal hernia | Rolling hiatus hernia | Paraoesophageal hiatus hernia | Paraoesophageal hernia | Paraesophageal hiatus hernia | Paraesophageal hernia (disorder) | Gastrooesophageal hernia,SNOMEDCT ID:3662000,,,,,,,hiatus hernia,DOID:12642,,OMIM ID:MTHU038976 +BMGC_DS04754,BMG_DS009647,Hepatobiliary Disorder,UMLS ID:C0267792,,,,,hepatobiliary disorder,MONDO:0002515,Digestive System Diseases,MeSH ID:D004066,hepatobiliary disease,DOID:3118,, +BMGC_DS04755,BMG_DS009652,Acute hepatitis,UMLS ID:C0267797,Acute hepatitis | Acute hepatitis (disorder),SNOMEDCT ID:37871000,,,,,,,,,,OMIM ID:MTHU023293 +BMGC_DS04756,BMG_DS009664,"Cirrhosis, Cryptogenic",UMLS ID:C0267809,,,,,,,,MeSH ID:C562577,,,, +BMGC_DS04757,BMG_DS009682,Liver cyst,UMLS ID:C0267834,Liver cyst | Liver cyst (disorder) | Hepatic cyst | Cyst of liver | Liver cyst | Cyst of liver (disorder),SNOMEDCT ID:197373008 | SNOMEDCT ID:301031003 | SNOMEDCT ID:85057007,,,,,,,,,, +BMGC_DS04758,BMG_DS009687,Acalculous Cholecystitis,UMLS ID:C0267841,,,,,acalculous cholecystitis,MONDO:0006633,Acalculous Cholecystitis,MeSH ID:D042101,acalculous cholecystitis,DOID:2828,, +BMGC_DS04759,BMG_DS009748,Acute cholangitis,UMLS ID:C0267917,Acute cholangitis | Acute cholangitis (disorder),SNOMEDCT ID:6215006,,,acute cholangitis,MONDO:0001930,,,acute cholangitis,DOID:14271,,OMIM ID:MTHU060449 +BMGC_DS04760,BMG_DS009749,Chronic cholangitis,UMLS ID:C0267918,Chronic cholangitis | Chronic cholangitis (disorder),SNOMEDCT ID:71912000,,,chronic cholangitis,MONDO:0004786,,,chronic cholangitis,DOID:9439,, +BMGC_DS04761,BMG_DS009750,Primary cholangitis,UMLS ID:C0267919,Primary cholangitis | Primary cholangitis (disorder),SNOMEDCT ID:17266006,,,,,,,,,ICD10 ID:K83.09, +BMGC_DS04762,BMG_DS009754,Suppurative cholangitis,UMLS ID:C0267924,Suppurative cholangitis | Suppurative cholangitis (disorder),SNOMEDCT ID:69850007 | SNOMEDCT ID:197437002,,,suppurative cholangitis,MONDO:0001928,,,suppurative cholangitis,DOID:14269,ICD10 ID:K83.09, +BMGC_DS04763,BMG_DS009765,"Pancreatitis, Acute Hemorrhagic",UMLS ID:C0267940,,,,,acute hemorrhagic pancreatitis,MONDO:0850421,"Pancreatitis, Acute Hemorrhagic",MeSH ID:D000081032,acute hemorrhagic pancreatitis,DOID:0080999,, +BMGC_DS04764,BMG_DS009766,Pancreatitis Necrotizing,UMLS ID:C0267941,,,,,acute necrotizing pancreatitis,MONDO:0850420,"Pancreatitis, Acute Necrotizing",MeSH ID:D019283,acute necrotizing pancreatitis,DOID:0080998,, +BMGC_DS04765,BMG_DS009777,Peripancreatic Fat Necrosis,UMLS ID:C0267954,,,,,,,Pancreatitis,MeSH ID:D010195,,,, +BMGC_DS04766,BMG_DS009784,Exocrine pancreatic insufficiency,UMLS ID:C0267963,Exocrine pancreatic insufficiency | Exocrine pancreatic insufficiency (disorder) | Pancreatic exocrine insufficiency | EPI - exocrine pancreatic insufficiency,SNOMEDCT ID:47367009,,,exocrine pancreatic insufficiency,MONDO:0001684,,,exocrine pancreatic insufficiency,DOID:13316,ICD10 ID:K86.81,OMIM ID:MTHU010290 +BMGC_DS04767,BMG_DS009823,Disorder of acid-base balance,UMLS ID:C0268029,Disorder of acid-base balance | Disturbance of acid-base balance | Disorder of acid-base balance (disorder),SNOMEDCT ID:26436007,,,disorder of acid-base balance,MONDO:0041261,,,,,, +BMGC_DS04768,BMG_DS009850,Neonatal hemochromatosis,UMLS ID:C0268059,Neonatal hemochromatosis | Idiopathic neonatal hemochromatosis | Idiopathic neonatal haemochromatosis | Neonatal haemochromatosis | Neonatal hemochromatosis (disorder),SNOMEDCT ID:6160004,,,neonatal hemochromatosis,MONDO:0009275,,MeSH ID:C536394,,,ICD10 ID:P78.84,OMIM ID:MTHU023490 | OMIM ID:231100 +BMGC_DS04769,BMG_DS009851,Juvenile hemochromatosis,UMLS ID:C0268060,Juvenile hemochromatosis | Juvenile haemochromatosis | Juvenile hemochromatosis (disorder) | Haemochromatosis type 2 | Hemochromatosis type 2,SNOMEDCT ID:50855007,,,hemochromatosis type 2,MONDO:0019257,,MeSH ID:C537247,hemochromatosis type 2,DOID:0111034,, +BMGC_DS04770,BMG_DS009861,Hypocupremia,UMLS ID:C0268070,Hypocupremia | Chronic copper deficiency | Copper deficiency | Hypocupraemia | Hypocupremia (disorder),SNOMEDCT ID:19577007,,,,,,,,,, +BMGC_DS04771,BMG_DS009869,"Hypercalcemia, Idiopathic, of Infancy",UMLS ID:C0268080,,,,,,,,MeSH ID:C562581,,,, +BMGC_DS04772,BMG_DS009878,Keshan disease,UMLS ID:C0268095,Keshan disease | Congestive cardiomyopathy due to selenium deficiency | Keshan disease (disorder),SNOMEDCT ID:46939000,,,Keshan disease,MONDO:0000241,,MeSH ID:C536166,Keshan disease,DOID:0050083,ICD10 ID:E59, +BMGC_DS04773,BMG_DS009887,Chronic gouty arthritis,UMLS ID:C0268108,Chronic gouty arthritis | Chronic gouty arthritis (disorder) | Chronic arthritis due to gout | Chronic articular gout,SNOMEDCT ID:68451005,,,,,,,,,, +BMGC_DS04774,BMG_DS009895,"Gout, HPRT-Related",UMLS ID:C0268117,,,,,hypoxanthine guanine phosphoribosyltransferase partial deficiency,MONDO:0010299,,MeSH ID:C562583,,,,OMIM ID:300323 +BMGC_DS04775,BMG_DS009896,"Xanthinuria, Type I",UMLS ID:C0268118,,,,,xanthinuria type I,MONDO:0010209,,MeSH ID:C562584,xanthinuria type I,DOID:0070452,,OMIM ID:278300 +BMGC_DS04776,BMG_DS009897,Combined molybdoflavoprotein enzyme deficiency,UMLS ID:C0268119,"Combined molybdoflavoprotein enzyme deficiency | Hereditary xanthinuria, type 2 | Deficiency of molybdenum cofactor | Xanthine oxidase-sulfite oxidase deficiency | Hereditary xanthinuria type 2 | Molybdenum cofactor deficiency | Combined xanthine oxidase and aldehyde oxidase deficiency | Xanthine oxidase-sulphite oxidase deficiency | Combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency | Combined xanthine oxidase and sulphite oxidase and aldehyde oxidase deficiency | Combined molybdoflavoprotein enzyme deficiency (disorder)",SNOMEDCT ID:29692004,,,sulfite oxidase deficiency due to molybdenum cofactor deficiency,MONDO:0020480,,,,,, +BMGC_DS04777,BMG_DS009898,Adenine phosphoribosyltransferase deficiency,UMLS ID:C0268120,Adenine phosphoribosyltransferase deficiency | Adenine phosphoribosyltransferase deficiency (disorder),SNOMEDCT ID:11852004,,,adenine phosphoribosyltransferase deficiency,MONDO:0013869,,MeSH ID:C538228,adenine phosphoribosyltransferase deficiency,DOID:0060350,,OMIM ID:614723 +BMGC_DS04778,BMG_DS009899,"APRT deficiency, Japanese type",UMLS ID:C0268121,"APRT deficiency, Japanese type | Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type | Adenine phosphoribosyltransferase deficiency, Japanese type (disorder) | Adenine phosphoribosyltransferase deficiency, Japanese type",SNOMEDCT ID:65791008,,,,,,,,,, +BMGC_DS04779,BMG_DS009902,Adenosine deaminase deficiency,UMLS ID:C0268124,Adenosine deaminase deficiency | ADA deficiency | Adenosine aminohydrolase deficiency | Adenosine deaminase deficiency (disorder) | ADA - Adenosine aminohydrolase deficiency | Deficiency of adenosine deaminase | Adenosine deaminase deficiency | Adenosine deaminase deficiency (disorder) | (Adenosine deaminase deficiency) or (other specified disturbance of amino acid metabolism) | Adenosine-deaminase deficiency | Adenosine deaminase deficiency | Other specified disturbance of amino-acid metabolism | (Adenosine deaminase deficiency) or (other specified disturbance of amino acid metabolism) (disorder),SNOMEDCT ID:44940001 | SNOMEDCT ID:190999009 | SNOMEDCT ID:190738006,,,,,,MeSH ID:C531816,adenosine deaminase deficiency,DOID:5810,, +BMGC_DS04780,BMG_DS009903,Purine-nucleoside phosphorylase deficiency,UMLS ID:C0268125,Purine-nucleoside phosphorylase deficiency | PNP deficiency | NP deficiency | Nucleoside phosphorylase deficiency | Purine nucleoside phosphorylase deficiency | PNP - Purine nucleoside phosphorylase deficiency | Deficiency of purine-nucleoside phosphorylase | NP - Nucleoside phosphorylase deficiency | Deficiency of inosine phosphorylase | Purine-nucleoside phosphorylase deficiency (disorder),SNOMEDCT ID:60743005,,,purine nucleoside phosphorylase deficiency,MONDO:0013171,,,purine nucleoside phosphorylase deficiency,DOID:5813,,OMIM ID:613179 +BMGC_DS04781,BMG_DS009904,Adenylosuccinate lyase deficiency (disorder),UMLS ID:C0268126,Adenylosuccinate lyase deficiency | Succinylpurinemic autism | Succinyladenosinuria | Adenylosuccinate deficiency | Succinylpurinaemic autism | ASase - Adenylosuccinate lyase deficiency | Adenylosuccinate lyase deficiency (disorder) | Deficiency of adenylosuccinate lyase,SNOMEDCT ID:15285008,,,adenylosuccinate lyase deficiency,MONDO:0007068,,,,,,OMIM ID:103050 +BMGC_DS04782,BMG_DS009907,"Hereditary orotic aciduria, type 1",UMLS ID:C0268130,"Hereditary orotic aciduria, type 1 | Orotidylic pyrophosphorylase orotidylic decarboxylase deficiency | UMP synthase deficiency | OPRT AND OMP decarboxylase deficiency | Combined orotic acid phosphoribosyltransferase and orotidine - 5 - phosphate decarboxylase deficiency | Hereditary orotic aciduria type 1 | UMPS - Uridine monophosphate synthase deficiency | Uridine monophosphate synthase deficiency | Hereditary orotic aciduria, type 1 (disorder)",SNOMEDCT ID:69525003,,,,,,,,,, +BMGC_DS04783,BMG_DS009910,"Xeroderma pigmentosum, group A",UMLS ID:C0268135,"Xeroderma pigmentosum, group A | Xeroderma pigmentosum, group A (disorder) | Xeroderma pigmentosum group A",SNOMEDCT ID:43477006,,,xeroderma pigmentosum group A,MONDO:0010210,,,,,,OMIM ID:278700 +BMGC_DS04784,BMG_DS009911,"Xeroderma pigmentosum, group B",UMLS ID:C0268136,"Xeroderma pigmentosum, group B | Xeroderma pigmentosum, group B (disorder) | Xeroderma pigmentosum group B",SNOMEDCT ID:1073003,,,xeroderma pigmentosum group B,MONDO:0012531,,,,,,OMIM ID:610651 +BMGC_DS04785,BMG_DS009912,"Xeroderma Pigmentosum, Complementation Group D",UMLS ID:C0268138,,,,,xeroderma pigmentosum group D,MONDO:0010212,,MeSH ID:C562591,,,,OMIM ID:278730 +BMGC_DS04786,BMG_DS009913,,UMLS ID:C0268140,,,,,xeroderma pigmentosum group F,MONDO:0010215,,,,,,OMIM ID:278760 +BMGC_DS04787,BMG_DS009914,"Xeroderma pigmentosum, group G",UMLS ID:C0268141,"Xeroderma pigmentosum, group G | Xeroderma pigmentosum, group G (disorder) | Xeroderma pigmentosum group G",SNOMEDCT ID:36454001,,,xeroderma pigmentosum group G,MONDO:0010216,,,,,,OMIM ID:278780 +BMGC_DS04788,BMG_DS009918,Glucose-6-phosphate transport defect,UMLS ID:C0268146,Glucose-6-phosphate transport defect | Glycogen storage disease type Ib | Glucose 6-phosphate transport defect | Glucose-6-phosphate transport defect (disorder),SNOMEDCT ID:30102006,,,glycogen storage disease Ib,MONDO:0009288,,,,,,OMIM ID:232240 | OMIM ID:232220 +BMGC_DS04789,BMG_DS009919,"Glycogen storage disease, type IX",UMLS ID:C0268147,"Glycogen storage disease, type IX | Glycogen storage disease, type IX (disorder) | Glycogen storage disease type 9",SNOMEDCT ID:40191005,,,,,,,,,, +BMGC_DS04790,BMG_DS009921,Glycogen storage disease type X,UMLS ID:C0268149,Glycogen storage disease type X | GSD X | Glycogenosis due to inactive phosphorylase AND kinase | Glycogen storage disease type X (disorder) | Muscle phosphoglycerate mutase deficiency | Phosphoglucomutase deficiency | Muscle phosphoglycerate mutase deficiency (disorder) | GSD X - glycogen storage disease type X | Glycogen storage disease type X,SNOMEDCT ID:37666005 | SNOMEDCT ID:61772003,,,glycogen storage disease due to phosphoglycerate mutase deficiency,MONDO:0009865,,,,,,OMIM ID:261670 +BMGC_DS04791,BMG_DS009922,Classical galactosemia,UMLS ID:C0268151,Deficiency of UTP-hexose-1-phosphate uridylyltransferase | UTP-hexose-1-phosphate uridyltransferase deficiency | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase | Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) | Classical galactosemia | Classical galactosaemia | Classical galactosemia (disorder) | Deficiency of galactose-1-phosphate uridylyltransferase | Deficiency of galactose-1-phosphate uridyl transferase | Deficiency of UTP-hexose-1-phosphate uridylyltransferase | Classical galactosemia | Galactose-1-phosphate uridyltransferase deficiency | UTP-hexose-1-phosphate uridyltransferase deficiency | Galactose-1-phosphate uridyl transferase deficiency | GALT | Transferase deficiency galactosaemia | Transferase deficiency galactosemia | Classical galactosaemia | Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) | Deficiency of uridyl transferase | Deficiency of hexose-1-phosphate uridylyltransferase | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | GALT deficiency | Classical galactosemia | Deficiency of galactose-1-phosphate uridyl transferase | Transferase deficiency galactosemia | Transferase deficiency galactosaemia | Classical galactosaemia | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase | Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder),SNOMEDCT ID:398664009 | SNOMEDCT ID:22436005 | SNOMEDCT ID:124353000 | SNOMEDCT ID:124354006,,,classic galactosemia,MONDO:0009258,,,classic galactosemia,DOID:0111459,,OMIM ID:230400 +BMGC_DS04792,BMG_DS009923,"Classical galactosemia, homozygous Duarte-type",UMLS ID:C0268152,"Classical galactosemia, homozygous Duarte-type | Classical galactosaemia, homozygous Duarte-type | Classical galactosemia, homozygous Duarte-type (disorder)",SNOMEDCT ID:10899004,,,,,,,,,, +BMGC_DS04793,BMG_DS009926,Deficiency of galactokinase,UMLS ID:C0268155,Deficiency of galactokinase | Galactokinase deficiency galactosemia | Galactosemia II | Galactosaemia - galactokinase deficiency | Galactokinase deficiency | Galactosemia - galactokinase deficiency | Galactokinase deficiency galactosaemia | Galactosaemia II | Deficiency of galactokinase (disorder) | GALK (galactokinase) deficiency,SNOMEDCT ID:124302001,,,galactokinase deficiency,MONDO:0009255,,,galactokinase deficiency,DOID:14695,,OMIM ID:230200 +BMGC_DS04794,BMG_DS009928,Deficiency of fructokinase,UMLS ID:C0268160,Deficiency of fructokinase | Deficiency of fructokinase (disorder),SNOMEDCT ID:124300009,,,essential fructosuria,MONDO:0009252,,,essential fructosuria,DOID:0111680,,OMIM ID:229800 +BMGC_DS04795,BMG_DS009930,Pentosuria,UMLS ID:C0268162,,,,,pentosuria,MONDO:0009846,,MeSH ID:C536652,pentosuria,DOID:0111258,,OMIM ID:260800 +BMGC_DS04796,BMG_DS009932,"Primary hyperoxaluria, type I",UMLS ID:C0268164,"Primary hyperoxaluria, type I | Glycolic aciduria | Alanine-glyoxylate aminotransferase deficiency | Primary hyperoxaluria, type I (disorder) | 2-Oxoglutarate glyoxylate carboligase deficiency | Oxalosis type I | Primary hyperoxaluria type I | Alanine-glycoxylate aminotransferase deficiency",SNOMEDCT ID:65520001,,,primary hyperoxaluria type 1,MONDO:0009823,,,primary hyperoxaluria type 1,DOID:0111670,,OMIM ID:259900 +BMGC_DS04797,BMG_DS009933,Primary hyperoxaluria type 2,UMLS ID:C0268165,,,,,primary hyperoxaluria type 2,MONDO:0009824,,MeSH ID:C536415,primary hyperoxaluria type 2,DOID:0111671,,OMIM ID:260000 +BMGC_DS04798,BMG_DS009944,"Lactase Deficiency, Congenital",UMLS ID:C0268179,,,,,congenital lactase deficiency,MONDO:0009115,,MeSH ID:C562600,congenital lactase deficiency,DOID:0111646,,OMIM ID:223000 +BMGC_DS04799,BMG_DS009946,"Lactose Intolerance, Adult Type",UMLS ID:C0268181,,,,,lactose intolerance adult type,MONDO:0006065,,MeSH ID:C562601,,,,OMIM ID:223100 +BMGC_DS04800,BMG_DS009950,Congenital glucose-galactose malabsorption,UMLS ID:C0268186,Congenital glucose-galactose malabsorption | Congenital glucose-galactose intolerance | Congenital glucose-galactose malabsorption (disorder),SNOMEDCT ID:27943000,,,glucose-galactose malabsorption,MONDO:0011731,,,glucose-galactose malabsorption,DOID:0070563,,OMIM ID:606824 +BMGC_DS04801,BMG_DS009951,"alpha, alpha-Trehalase deficiency",UMLS ID:C0268187,"Trehalose intolerance | Trehalase deficiency | Alpha, alpha-trehalase deficiency | Trehalase deficiency (disorder)",SNOMEDCT ID:84193000,,,diarrhea-vomiting due to trehalase deficiency,MONDO:0012803,,,,,,OMIM ID:612119 +BMGC_DS04802,BMG_DS009957,NADH cytochrome B5 reductase deficiency,UMLS ID:C0268193,,,,,methemoglobinemia due to deficiency of methemoglobin reductase,MONDO:0009606,,MeSH ID:C537841,,,,OMIM ID:250800 +BMGC_DS04803,BMG_DS009958,Phosphoenolpyruvate carboxykinase deficiency,UMLS ID:C0268194,Phosphoenolpyruvate carboxykinase (GTP) deficiency | Phosphoenolpyruvate carboxykinase deficiency | PEPCK - Phosphoenolpyruvate carboxykinase deficiency | Phosphoenolpyruvate carboxykinase deficiency (disorder),SNOMEDCT ID:5335002,,,phosphoenolpyruvate carboxykinase deficiency,MONDO:0017320,,MeSH ID:C536654,,,, +BMGC_DS04804,BMG_DS009962,Familial apolipoprotein C-II deficiency,UMLS ID:C0268199,Familial apolipoprotein C-II deficiency | Anapolipoproteinemia | Anapolipoproteinaemia | Familial apolipoprotein C-II deficiency (disorder) | Familial apoC-II deficiency,SNOMEDCT ID:33513003,,,,,,,familial apolipoprotein C-II deficiency,DOID:0111418,, +BMGC_DS04805,BMG_DS009972,Fucosidosis Type I,UMLS ID:C0268221,,,,,,,Fucosidosis,MeSH ID:D005645,,,, +BMGC_DS04806,BMG_DS009973,Fucosidosis Type II,UMLS ID:C0268222,,,,,,,Fucosidosis,MeSH ID:D005645,,,, +BMGC_DS04807,BMG_DS009974,Aspartylglucosaminuria,UMLS ID:C0268225,Aspartylglucosaminuria | Aspartylglycosaminuria | Aspartylglucosaminidase deficiency | Aspartylglucosaminuria (disorder) | Aspartylglycosylaminase deficiency,SNOMEDCT ID:54954004,Disorders of sialic acid metabolism,ICD11 ID:5C56.4,aspartylglucosaminuria,MONDO:0008830,Aspartylglucosaminuria,MeSH ID:D054880,aspartylglucosaminuria,DOID:0050461,ICD10 ID:E77.1,OMIM ID:208400 | OMIM ID:MTHU014368 +BMGC_DS04808,BMG_DS009975,Type I Mucolipidosis,UMLS ID:C0268226,,,,,sialidosis,MONDO:0017734,Mucolipidoses,MeSH ID:D009081,,,, +BMGC_DS04809,BMG_DS009976,Neuraminidase 1 deficiency,UMLS ID:C0268228,,,,,,,,MeSH ID:C537366,,,, +BMGC_DS04810,BMG_DS009981,GALACTOSIALIDOSIS,UMLS ID:C0268233,,,,,galactosialidosis,MONDO:0009737,,,galactosialidosis,DOID:0080540,,OMIM ID:256540 | OMIM ID:613111 +BMGC_DS04811,BMG_DS009982,Cytochrome-c Oxidase Deficiency,UMLS ID:C0268237,,,,,cytochrome-c oxidase deficiency disease,MONDO:0009068,Cytochrome-c Oxidase Deficiency,MeSH ID:D030401,cytochrome-c oxidase deficiency disease,DOID:3762,, +BMGC_DS04812,BMG_DS009983,Triglyceride storage disease with ichthyosis,UMLS ID:C0268238,Triglyceride storage disease with ichthyosis | Chanarin-Dorfman disease | Chanarin-Miranda syndrome | Ichthyosiform erythroderma with leukocyte vacuolation | Ichthyotic neutral lipid storage disease | Neutral lipid storage disease | Lipid storage myopathy AND congenital ichthyosis | Ichthyosiform erythroderma with leucocyte vacuolation | Triglyceride storage disease with ichthyosis (disorder),SNOMEDCT ID:19604005,,,Dorfman-Chanarin disease,MONDO:0010155,,,,,,OMIM ID:275630 +BMGC_DS04813,BMG_DS009986,"Niemann-Pick Disease, Type A",UMLS ID:C0268242,,,,,Niemann-Pick disease type A,MONDO:0009756,"Niemann-Pick Disease, Type A",MeSH ID:D052536,,,,OMIM ID:257200 +BMGC_DS04814,BMG_DS009987,"Niemann-Pick Disease, Type B",UMLS ID:C0268243,,,,,Niemann-Pick disease type B,MONDO:0011871,"Niemann-Pick Disease, Type B",MeSH ID:D052537,,,,OMIM ID:607616 +BMGC_DS04815,BMG_DS009991,"Niemann-Pick Disease, Type D",UMLS ID:C0268247,,,,,,,"Niemann-Pick Disease, Type C",MeSH ID:D052556,,,, +BMGC_DS04816,BMG_DS009992,"Niemann-Pick Disease, Type E",UMLS ID:C0268248,,,,,Niemann-Pick disease type E,MONDO:0020384,"Niemann-Pick Disease, Type B",MeSH ID:D052537,,,, +BMGC_DS04817,BMG_DS009993,"Gaucher Disease, Type 2",UMLS ID:C0268250,,,,,Gaucher disease type II,MONDO:0009266,Gaucher Disease,MeSH ID:D005776,,,,OMIM ID:230900 +BMGC_DS04818,BMG_DS009994,"Gaucher Disease, Type 3",UMLS ID:C0268251,,,,,Gaucher disease type III,MONDO:0009267,Gaucher Disease,MeSH ID:D005776,,,,OMIM ID:231000 +BMGC_DS04819,BMG_DS009995,Late-Onset Globoid Cell Leukodystrophy,UMLS ID:C0268252,,,,,adult Krabbe disease,MONDO:0016091,"Leukodystrophy, Globoid Cell",MeSH ID:D007965,,,, +BMGC_DS04820,BMG_DS009996,Farber Lipogranulomatosis,UMLS ID:C0268255,,,,,Farber lipogranulomatosis,MONDO:0009218,Farber Lipogranulomatosis,MeSH ID:D055577,Farber lipogranulomatosis,DOID:0050464,,OMIM ID:228000 +BMGC_DS04821,BMG_DS009999,Metachromatic Leukodystrophy due to Saposin B Deficiency,UMLS ID:C0268262,,,,,metachromatic leukodystrophy due to saposin B deficiency,MONDO:0009590,,MeSH ID:C562609,,,,OMIM ID:249900 +BMGC_DS04822,BMG_DS010000,Multiple Sulfatase Deficiency Disease,UMLS ID:C0268263,,,,,mucosulfatidosis,MONDO:0010088,Multiple Sulfatase Deficiency Disease,MeSH ID:D052517,mucosulfatidosis,DOID:0050441,,OMIM ID:272200 +BMGC_DS04823,BMG_DS010001,"Gangliosidosis, Generalized GM1, Type 1",UMLS ID:C0268271,,,,,GM1 gangliosidosis type 1,MONDO:0009260,"Gangliosidosis, GM1",MeSH ID:D016537,,,,OMIM ID:230500 +BMGC_DS04824,BMG_DS010002,"Gangliosidosis, Generalized GM1, Type 2",UMLS ID:C0268272,,,,,GM1 gangliosidosis type 2,MONDO:0009261,"Gangliosidosis, GM1",MeSH ID:D016537,,,,OMIM ID:230600 +BMGC_DS04825,BMG_DS010003,"Gangliosidosis, Generalized GM1, Type 3",UMLS ID:C0268273,,,,,GM1 gangliosidosis type 3,MONDO:0009262,"Gangliosidosis, GM1",MeSH ID:D016537,,,,OMIM ID:230650 +BMGC_DS04826,BMG_DS010004,"Gangliosidoses, GM2",UMLS ID:C0268274,,,,,GM2 gangliosidosis,MONDO:0017720,"Gangliosidoses, GM2",MeSH ID:D020143,GM2 gangliosidosis,DOID:3321,, +BMGC_DS04827,BMG_DS010005,"Tay-Sachs Disease, AB Variant",UMLS ID:C0268275,,,,,Tay-Sachs disease AB variant,MONDO:0010099,"Tay-Sachs Disease, AB Variant",MeSH ID:D049290,"GM2 gangliosidosis, AB variant",DOID:4795,,OMIM ID:272750 +BMGC_DS04828,BMG_DS010006,Juvenile GM2 gangliosidosis,UMLS ID:C0268276,"GM>2< gangliosidosis, type 3 | Juvenile GM2 gangliosidosis (disorder) | Juvenile GM2 gangliosidosis",SNOMEDCT ID:9537004,,,,,,,,,ICD10 ID:E75.09, +BMGC_DS04829,BMG_DS010013,"Adrenal hyperplasia, congenital, type 5",UMLS ID:C0268285,,,,,congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,MONDO:0008730,,MeSH ID:C538237,,,,OMIM ID:202110 +BMGC_DS04830,BMG_DS010018,Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency,UMLS ID:C0268292,,,,,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,MONDO:0008729,,MeSH ID:C535978,,,,OMIM ID:202010 +BMGC_DS04831,BMG_DS010019,,UMLS ID:C0268293,,,,,corticosterone methyloxidase type 1 deficiency,MONDO:0008751,,,,,,OMIM ID:203400 +BMGC_DS04832,BMG_DS010020,17-Hydroxysteroid Dehydrogenase Deficiency,UMLS ID:C0268296,,,,,"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",MONDO:0009916,,MeSH ID:C537805,,,,OMIM ID:264300 +BMGC_DS04833,BMG_DS010021,Pseudovaginal Perineoscrotal Hypospadias,UMLS ID:C0268297,,,,,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",MONDO:0009923,,MeSH ID:C535830,,,,OMIM ID:264600 +BMGC_DS04834,BMG_DS010022,Reifenstein Syndrome,UMLS ID:C0268301,,,,,partial androgen insensitivity syndrome,MONDO:0010720,Androgen-Insensitivity Syndrome,MeSH ID:D013734,,,,OMIM ID:312100 | OMIM ID:312300 | OMIM ID:307300 +BMGC_DS04835,BMG_DS010030,Progressive intrahepatic cholestasis (disorder),UMLS ID:C0268312,Progressive intrahepatic cholestasis | Familial intrahepatic cholestasis | Fatal intrahepatic cholestasis | Progressive intrahepatic cholestasis (disorder) | Progressive familial intrahepatic cholestasis | PFIC - progressive familial intrahepatic cholestasis,SNOMEDCT ID:74162007,,,progressive familial intrahepatic cholestasis,MONDO:0015762,,,progressive familial intrahepatic cholestasis,DOID:0070221,, +BMGC_DS04836,BMG_DS010032,"Cholestasis-edema syndrome, Norwegian type",UMLS ID:C0268314,"Cholestasis-edema syndrome, Norwegian type | Aagenaes syndrome | Cholestasis-lymphedema syndrome | Cholestatic jaundice with hereditary lymphedema | Norwegian cholestasis | Cholestasis-lymphoedema syndrome | Cholestatic jaundice with hereditary lymphoedema | Cholestasis-oedema syndrome, Norwegian type | Cholestasis-edema syndrome, Norwegian type (disorder)",SNOMEDCT ID:28724005,,,Aagenaes syndrome,MONDO:0008966,,,Aagenaes syndrome,DOID:6691,,OMIM ID:214900 +BMGC_DS04837,BMG_DS010035,Cholestasis of pregnancy,UMLS ID:C0268318,Intrahepatic cholestasis of pregnancy | Recurrent jaundice of pregnancy | Recurrent intrahepatic cholestasis of pregnancy | Cholestasis of pregnancy | Cholestasis of pregnancy (disorder) | RICP - recurrent intrahepatic cholestasis of pregnancy | Intrahepatic cholestasis of pregnancy | Intrahepatic cholestasis of pregnancy (disorder),SNOMEDCT ID:235888006 | SNOMEDCT ID:950004,,,intrahepatic cholestasis of pregnancy,MONDO:0100429,,,,,, +BMGC_DS04838,BMG_DS010039,Familial porphyria cutanea tarda,UMLS ID:C0268323,Familial porphyria cutanea tarda | Hereditary porphyria cutanea tarda | Familial porphyria cutanea tarda (disorder) | PCT (porphyria cutanea tarda) type II,SNOMEDCT ID:59229005,,,familial porphyria cutanea tarda,MONDO:0008296,,,,,,OMIM ID:176100 +BMGC_DS04839,BMG_DS010043,Porphobilinogen synthase deficiency,UMLS ID:C0268328,Porphobilinogen synthase deficiency | ALA dehydratase deficiency porphyria | ALAD deficiency | ALADH deficiency | Hereditary delta-aminolevulinic aciduria | Acute hepatic porphyria | Delta-aminolevulinate dehydrase deficiency | Delta-aminolaevulinate dehydrase deficiency | Porphobilinogen synthase deficiency (disorder) | Porphyria due to delta-aminolevulinate dehydratase deficiency | Porphyria of Doss,SNOMEDCT ID:64081000,,,porphyria due to ALA dehydratase deficiency,MONDO:0013000,,,,,,OMIM ID:612740 +BMGC_DS04840,BMG_DS010046,Ehlers-Danlos syndrome type 1,UMLS ID:C0268335,,,,,"Ehlers-Danlos syndrome, classic type, 1",MONDO:0019567,,MeSH ID:C536194,Ehlers-Danlos syndrome classic type 1,DOID:14720,,OMIM ID:130000 +BMGC_DS04841,BMG_DS010047,Ehlers-Danlos syndrome type 2,UMLS ID:C0268336,,,,,"Ehlers-Danlos syndrome, classic type, 2",MONDO:0019568,,MeSH ID:C536195,,,,OMIM ID:130010 +BMGC_DS04842,BMG_DS010048,"Ehlers-Danlos syndrome, type 3 (disorder)",UMLS ID:C0268337,"Ehlers-Danlos syndrome, type 3 | Benign hypermobility syndrome | Ehlers-Danlos syndrome, benign hypermobile form | Hypermobile Ehlers-Danlos syndrome (disorder) | Hypermobile Ehlers-Danlos syndrome",SNOMEDCT ID:30652003,,,"Ehlers-Danlos syndrome, hypermobility type",MONDO:0007523,,,Ehlers-Danlos syndrome hypermobility type,DOID:14757,,OMIM ID:130020 +BMGC_DS04843,BMG_DS010049,"Ehlers-Danlos Syndrome, Type IV",UMLS ID:C0268338,,,,,"Ehlers-Danlos syndrome, vascular type",MONDO:0017314,"Ehlers-Danlos Syndrome, Type IV",MeSH ID:D000094623,,,, +BMGC_DS04844,BMG_DS010050,,UMLS ID:C0268339,,,,,"autosomal dominant Ehlers-Danlos syndrome, vascular type",MONDO:0007524,,,,,,OMIM ID:130050 +BMGC_DS04845,BMG_DS010051,,UMLS ID:C0268340,,,,,"autosomal recessive Ehlers-Danlos syndrome, vascular type",MONDO:0002014,,,autosomal recessive type IV Ehlers-Danlos syndrome,DOID:14759,, +BMGC_DS04846,BMG_DS010052,Ehlers-Danlos syndrome type 5,UMLS ID:C0268341,,,,,X-linked Ehlers-Danlos syndrome,MONDO:0010586,,MeSH ID:C536197,X-linked cardiac valvular dysplasia,DOID:0111765,,OMIM ID:305200 +BMGC_DS04847,BMG_DS010053,Ehlers-Danlos syndrome type 6,UMLS ID:C0268342,,,,,"Ehlers-Danlos syndrome, kyphoscoliotic type 1 | brittle cornea syndrome",MONDO:0009242;MONDO:0016002,,MeSH ID:C536198,brittle cornea syndrome 1,DOID:14775,,OMIM ID:225400 +BMGC_DS04848,BMG_DS010055,Ehlers-Danlos syndrome 6B,UMLS ID:C0268344,,,,,brittle cornea syndrome 1,MONDO:0024543,,MeSH ID:C536192,,,,OMIM ID:229200 +BMGC_DS04849,BMG_DS010057,"Ehlers-Danlos Syndrome, Type VIII",UMLS ID:C0268347,,,,,"Ehlers-Danlos syndrome, periodontitis type",MONDO:0007527,,MeSH ID:C562626,,,, +BMGC_DS04850,BMG_DS010060,"Cutis Laxa, Autosomal Dominant",UMLS ID:C0268350,,,,,autosomal dominant cutis laxa,MONDO:0019571,,MeSH ID:C562627,,,, +BMGC_DS04851,BMG_DS010061,,UMLS ID:C0268351,,,,,autosomal recessive cutis laxa type 1,MONDO:0019572,,,autosomal recessive cutis laxa type I,DOID:0070144,, +BMGC_DS04852,BMG_DS010063,,UMLS ID:C0268353,,,,,occipital horn syndrome,MONDO:0010572,,,occipital horn syndrome,DOID:0111272,,OMIM ID:304150 +BMGC_DS04853,BMG_DS010064,De Barsy syndrome,UMLS ID:C0268354,,,,,de Barsy syndrome,MONDO:0017569,,MeSH ID:C535990,autosomal recessive cutis laxa type III,DOID:0070143,, +BMGC_DS04854,BMG_DS010065,"Cutis Laxa, Autosomal Recessive, Type IIA",UMLS ID:C0268355,,,,,autosomal recessive cutis laxa type 2A,MONDO:0018163,,MeSH ID:C562632,,,,OMIM ID:219200 +BMGC_DS04855,BMG_DS010068,"Osteogenesis imperfecta, dominant perinatal lethal",UMLS ID:C0268358,"Osteogenesis imperfecta, dominant perinatal lethal | Osteogenesis imperfecta type II, dominant form | Neonatal lethal osteogenesis imperfecta congenita | Osteogenesis imperfecta, dominant perinatal lethal (disorder)",SNOMEDCT ID:7134007,,,osteogenesis imperfecta type 2,MONDO:0008147,,,,,,OMIM ID:166210 +BMGC_DS04856,BMG_DS010071,Osteogenesis imperfecta type III (disorder),UMLS ID:C0268362,Osteogenesis imperfecta type III (disorder) | Osteogenesis imperfecta type III,SNOMEDCT ID:385483009,,,osteogenesis imperfecta type 3,MONDO:0009804,,,,,,OMIM ID:259420 +BMGC_DS04857,BMG_DS010072,Osteogenesis imperfecta type IV (disorder),UMLS ID:C0268363,"Osteogenesis imperfecta type IV | Osteogenesis imperfecta, type IV | Osteogenesis imperfecta with normal sclerae, dominant form | Osteogenesis imperfecta type IV (disorder)",SNOMEDCT ID:205497004,,,osteogenesis imperfecta type 4,MONDO:0008148,,,,,,OMIM ID:166220 +BMGC_DS04858,BMG_DS010075,,UMLS ID:C0268368,,,,,epidermolysis bullosa dystrophica Neurotrophica,MONDO:0009178,,,,,,OMIM ID:226500 +BMGC_DS04859,BMG_DS010076,,UMLS ID:C0268371,,,,,epidermolysis bullosa with congenital localized absence of skin and deformity of nails,MONDO:0007557,,,,,,OMIM ID:132000 +BMGC_DS04860,BMG_DS010078,Adult junctional epidermolysis bullosa (disorder),UMLS ID:C0268374,"Adult junctional epidermolysis bullosa | Epidermolysis bullosa junctionalis, Disentis type | Adult junctional epidermolysis bullosa (disorder)",SNOMEDCT ID:33662006,,,"junctional epidermolysis bullosa, non-Herlitz type",MONDO:0009180,,,,,,OMIM ID:226650 +BMGC_DS04861,BMG_DS010081,Pseudocholinesterase deficiency,UMLS ID:C0268379,Serum cholinesterase defect | Butyrylcholinesterase deficiency | Plasma cholinesterase deficiency | Suxamethonium paralysis | Serum cholinesterase deficiency | Cholinesterase deficiency | Pseudocholinesterase deficiency | Pseudocholinesterase deficiency (disorder) | Serum cholinesterase defect | Serum cholinesterase defect (disorder),SNOMEDCT ID:191397007 | SNOMEDCT ID:62793002,,,,,,MeSH ID:C537417,,,, +BMGC_DS04862,BMG_DS010083,Primary amyloidosis,UMLS ID:C0268381,AL amyloidosis | Amyloid light-chain amyloidosis (disorder) | Amyloid light-chain amyloidosis | Primary amyloidosis of light chain type | Primary amyloidosis | Primary amyloidosis (disorder),SNOMEDCT ID:23132008 | SNOMEDCT ID:302871005,,,AL amyloidosis,MONDO:0019438,,,,,, +BMGC_DS04863,BMG_DS010086,"Familial Amyloid Neuropathy, Portuguese Type",UMLS ID:C0268384,,,,,ATTRV30M amyloidosis,MONDO:0100552,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS04864,BMG_DS010087,"Familial Amyloid Polyneuropathy, Jewish Type",UMLS ID:C0268385,,,,,,,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS04865,BMG_DS010088,"Amyloid Polyneuropathy, Swiss Type",UMLS ID:C0268386,,,,,,,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS04866,BMG_DS010089,"Amyloidosis, familial visceral",UMLS ID:C0268389,,,,,familial visceral amyloidosis,MONDO:0007099,,MeSH ID:C538249,,,,OMIM ID:105200 +BMGC_DS04867,BMG_DS010090,Muckle-Wells Syndrome,UMLS ID:C0268390,,,,,Muckle-Wells syndrome,MONDO:0008633,Cryopyrin-Associated Periodic Syndromes,MeSH ID:D056587,Muckle-Wells syndrome,DOID:0050854,,OMIM ID:191900 +BMGC_DS04868,BMG_DS010092,Familial Cerebral Amyloid Angiopathy,UMLS ID:C0268393,,,,,ITM2B amyloidosis,MONDO:0018591,"Cerebral Amyloid Angiopathy, Familial",MeSH ID:D028243,cerebral amyloid angiopathy,DOID:9246,, +BMGC_DS04869,BMG_DS010094,Primary localized cutaneous amyloidosis,UMLS ID:C0268397,Primary localized cutaneous amyloidosis | Primary localised cutaneous amyloidosis | Primary localized cutaneous amyloidosis (disorder) | Primary localized cutaneous amyloidosis (disorder) | Primary localized cutaneous amyloidosis | Primary localised cutaneous amyloidosis | Cutaneous amyloidosis | Primary cutaneous amyloidosis | Amyloidosis of dermis | Amyloidosis cutis | Primary localised cutaneous amyloidosis | Primary localized cutaneous amyloidosis | Cutaneous amyloidosis (disorder),SNOMEDCT ID:61985005 | SNOMEDCT ID:733729003 | SNOMEDCT ID:282834007,,,primary cutaneous amyloidosis,MONDO:0015301,,,,,, +BMGC_DS04870,BMG_DS010096,"Amyloidosis, Cutaneous Bullous",UMLS ID:C0268399,,,,,"amyloidosis, cutaneous bullous",MONDO:0008778,,MeSH ID:C562644,,,,OMIM ID:204900 +BMGC_DS04871,BMG_DS010102,Hemodialysis-associated amyloidosis,UMLS ID:C0268405,Hemodialysis-associated amyloidosis | beta-2-Microglobulin amyloidosis | Dialysis-associated amyloidosis | Beta-2 microglobulin amyloidosis | Haemodialysis-associated amyloidosis | Hemodialysis-associated amyloidosis (disorder),SNOMEDCT ID:32599008,AA amyloidosis,ICD11 ID:5D00.1,wild type ABeta2M amyloidosis,MONDO:0019440,,,serum amyloid A amyloidosis,DOID:0080936,ICD10 ID:E85.3, +BMGC_DS04872,BMG_DS010104,Senile cardiac amyloidosis,UMLS ID:C0268407,Senile cardiac amyloidosis | AS transthyretin amyloidosis | Cardiac amyloidosis | Amyloid heart muscle disease | Senile cardiac amyloidosis (disorder) | Stiff heart syndrome | Wild-type transthyretin cardiac amyloidosis,SNOMEDCT ID:16573007,,,,,,,,,, +BMGC_DS04873,BMG_DS010107,Acid Phosphatase Deficiency,UMLS ID:C0268410,,,,,lysosomal acid phosphatase deficiency,MONDO:0008705,,MeSH ID:C562645,,,,OMIM ID:200950 +BMGC_DS04874,BMG_DS010108,Infantile hypophosphatasia,UMLS ID:C0268412,"Infantile hypophosphatasia | Hypophosphatasia, infantile type | Congenital hypophosphatasia | Fetal hypophosphatasia | Phosphoethanolaminuria | Rathbun syndrome | Infantile hypophosphatasia (disorder) | Foetal hypophosphatasia",SNOMEDCT ID:55236002,,,,,,,,,, +BMGC_DS04875,BMG_DS010109,Adult hypophosphatasia,UMLS ID:C0268413,"Adult hypophosphatasia | Hypophosphatasia, adult type | Adult hypophosphatasia (disorder)",SNOMEDCT ID:20756002,,,,,,,,,, +BMGC_DS04876,BMG_DS010110,Hyperphosphatasemia with bone disease,UMLS ID:C0268414,Hyperphosphatasemia with bone disease | Chronic congenital idiopathic hyperphosphatasemia | Familial idiopathic hyperphosphatasemia | Familial osteoectasia | Hyperostosis corticalis deformans juvenilis | Juvenile Paget disease | Osteochalasia desmalis familiaris | Osteoectasia with hyperphosphatasia | Chronic congenital idiopathic hyperphosphatasaemia | Hyperphosphatasaemia with bone disease | Familial idiopathic hyperphosphatasaemia | Hyperphosphatasemia with bone disease (disorder),SNOMEDCT ID:9723006,,,juvenile Paget disease,MONDO:0009394,,,,,,OMIM ID:239000 +BMGC_DS04877,BMG_DS010111,Enterokinase Deficiency,UMLS ID:C0268416,,,,,congenital enteropathy due to enteropeptidase deficiency,MONDO:0009173,,MeSH ID:C562649,enterokinase deficiency,DOID:0111667,,OMIM ID:226200 +BMGC_DS04878,BMG_DS010112,Pancreatic trypsinogen deficiency,UMLS ID:C0268417,Pancreatic trypsinogen deficiency | Congenital trypsinogen deficiency | Pancreatic trypsinogen deficiency (disorder),SNOMEDCT ID:65660008,,,trypsinogen deficiency,MONDO:0013543,,,,,,OMIM ID:614044 +BMGC_DS04879,BMG_DS010113,Deficiency of glycerol kinase,UMLS ID:C0268418,Deficiency of glycerol kinase | Glycerol kinase deficiency | GKD - Glycerol kinase deficiency | GK1 deficiency | Familial hyperglycerolemia | Hyperglycerolemia | Familial hyperglycerolaemia | Hyperglycerolaemia | Deficiency of glycerol kinase (disorder),SNOMEDCT ID:124322002,,,inborn glycerol kinase deficiency,MONDO:0010613,,,,,,OMIM ID:307030 +BMGC_DS04880,BMG_DS010114,Acatalasia,UMLS ID:C0268419,Acatalasia | Takahara disease | Acatalasemia | Acatalasaemia | Acatalasia (disorder) | Acatalasemia | Catalase deficiency | Acatalasaemia | Acatalasemia (disorder) | Takahara disease | Acatalasia | Acatalasia | Acatalasia (disorder),SNOMEDCT ID:111393000 | SNOMEDCT ID:267454002 | SNOMEDCT ID:190954001,,,acatalasia,MONDO:0013571,Acatalasia,MeSH ID:D020642,acatalasia,DOID:2582,,OMIM ID:614097 +BMGC_DS04881,BMG_DS010117,Ethanolaminosis,UMLS ID:C0268423,Ethanolaminosis | Ethanolamine kinase deficiency | Ethanolaminuria | Ethanolaminosis (disorder),SNOMEDCT ID:64235006,,,ethanolaminosis,MONDO:0009199,,MeSH ID:C562651,,,,OMIM ID:227150 +BMGC_DS04882,BMG_DS010119,Alstrom Syndrome,UMLS ID:C0268425,,,,,Alstrom syndrome,MONDO:0008763,Alstrom Syndrome,MeSH ID:D056769,Alstrom syndrome,DOID:0050473,,OMIM ID:203800 +BMGC_DS04883,BMG_DS010127,"Renal Tubular Acidosis, Type II",UMLS ID:C0268435,,,,,proximal renal tubular acidosis,MONDO:0008369,"Acidosis, Renal Tubular",MeSH ID:D000141,,,,OMIM ID:179830 +BMGC_DS04884,BMG_DS010128,"Pseudohypoaldosteronism, Type I",UMLS ID:C0268436,,,,,pseudohypoaldosteronism type 1,MONDO:0019161,Pseudohypoaldosteronism,MeSH ID:D011546,autosomal recessive pseudohypoaldosteronism type 1,DOID:0060854,, +BMGC_DS04885,BMG_DS010132,Acquired Nephrogenic Diabetes Insipidus,UMLS ID:C0268443,,,,,,,"Diabetes Insipidus, Nephrogenic",MeSH ID:D018500,,,, +BMGC_DS04886,BMG_DS010133,"Hypokalemia, Familial",UMLS ID:C0268444,,,,,"hypokalemic alkalosis, familial, with specific renal tubulopathy",MONDO:0009423,,MeSH ID:C562654,,,,OMIM ID:241150 +BMGC_DS04887,BMG_DS010135,Thyrotoxic periodic paralysis,UMLS ID:C0268446,Thyrotoxic periodic paralysis | Hashitoxic periodic paralysis | Thyrotoxic periodic paralysis (disorder),SNOMEDCT ID:30967002,,,thyrotoxic periodic paralysis,MONDO:0019201,,,,,, +BMGC_DS04888,BMG_DS010137,Primary hypomagnesemia (disorder),UMLS ID:C0268448,Primary hypomagnesemia | Primary hypomagnesaemia | Primary hypomagnesemia (disorder),SNOMEDCT ID:80710001,,,renal hypomagnesemia 3,MONDO:0009550,,,,,,OMIM ID:248250 +BMGC_DS04889,BMG_DS010139,Gitelman Syndrome,UMLS ID:C0268450,,,,,Gitelman syndrome,MONDO:0009904,Gitelman Syndrome,MeSH ID:D053579,Gitelman syndrome,DOID:0050450,,OMIM ID:263800 +BMGC_DS04890,BMG_DS010148,Phenylketonuria II,UMLS ID:C0268465,"Dihydropteridine reductase deficiency | Atypical phenylketonuria | DHPR deficiency | Hyperphenylalaninemia, type IV | Atypical PKU | Phenylketonuria II | DHPR - Dihydropteridine reductase deficiency | Hyperphenylalaninaemia, type IV | Dihydropteridine reductase deficiency (disorder)",SNOMEDCT ID:58256000,,,dihydropteridine reductase deficiency,MONDO:0009862,Phenylketonurias,MeSH ID:D010661,,,,OMIM ID:261630 +BMGC_DS04891,BMG_DS010149,"Hyperphenylalaninemia, BH4-Deficient, B",UMLS ID:C0268467,,,,,GTP cyclohydrolase I deficiency,MONDO:0100184,,MeSH ID:C562656,,,, +BMGC_DS04892,BMG_DS010150,"Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency",UMLS ID:C0268468,,,,,dopa-responsive dystonia due to sepiapterin reductase deficiency,MONDO:0012994,,MeSH ID:C562657,sepiapterin reductase deficiency,DOID:0111168,,OMIM ID:612716 +BMGC_DS04893,BMG_DS010153,Tryptophanuria With Dwarfism,UMLS ID:C0268473,,,,,Tryptophanuria with dwarfism,MONDO:0010157,,MeSH ID:C562658,,,,OMIM ID:276100 +BMGC_DS04894,BMG_DS010154,Hydroxykynureninuria,UMLS ID:C0268474,Hydroxykynureninuria | Hydroxykynureninuria (disorder),SNOMEDCT ID:33116002 | SNOMEDCT ID:190690005,,,encephalopathy due to hydroxykynureninuria,MONDO:0009372,,MeSH ID:C536081,hydroxykynureninuria,DOID:0112257,,OMIM ID:236800 | OMIM ID:MTHU074673 +BMGC_DS04895,BMG_DS010156,Blue diaper syndrome,UMLS ID:C0268478,Tryptophan malabsorption syndrome | Blue diaper syndrome | Tryptophan malabsorption syndrome (disorder),SNOMEDCT ID:59531002,,,blue diaper syndrome,MONDO:0008877,,MeSH ID:C536239,,,,OMIM ID:211000 +BMGC_DS04896,BMG_DS010157,Hooft disease,UMLS ID:C0268479,,,,,Hooft disease,MONDO:0009355,,MeSH ID:C535329,,,,OMIM ID:236300 +BMGC_DS04897,BMG_DS010159,,UMLS ID:C0268483,,,,,tyrosinemia,MONDO:0004741,,,tyrosinemia,DOID:9275,, +BMGC_DS04898,BMG_DS010160,Tyrosinosis,UMLS ID:C0268484,Tyrosinosis | Tyrosinosis (disorder) | Tyrosinosis | Excessive accumulation of tyrosine in tissue | Tyrosinosis (disorder),SNOMEDCT ID:190692002 | SNOMEDCT ID:57414003,,,Tyrosinosis,MONDO:0010163,,MeSH ID:C562659,,,,OMIM ID:276800 +BMGC_DS04899,BMG_DS010163,Tyrosine Transaminase Deficiency Disease,UMLS ID:C0268487,,,,,tyrosinemia type II,MONDO:0010160,Tyrosinemias,MeSH ID:D020176,,,,OMIM ID:276600 +BMGC_DS04900,BMG_DS010165,"Tyrosinemia, Type I",UMLS ID:C0268490,,,,,tyrosinemia type I,MONDO:0010161,Tyrosinemias,MeSH ID:D020176,,,,OMIM ID:276700 +BMGC_DS04901,BMG_DS010168,Oculocutaneous albinism type 1,UMLS ID:C0268494,Oculocutaneous albinism type 1 (disorder) | Oculocutaneous albinism type 1 | TYR-gene related oculocutaneous albinism type 1,SNOMEDCT ID:765146000,,,oculocutaneous albinism type 1,MONDO:0018135,,MeSH ID:C537728,,,, +BMGC_DS04902,BMG_DS010169,Oculocutaneous albinism type 2,UMLS ID:C0268495,Tyrosinase-positive oculocutaneous albinism | Tyrosinase-positive oculocutaneous albinism (disorder) | OCA2 - Tyrosinase-positive oculocutaneous albinism | Albinoidism | Oculocutaneous albinism type 2,SNOMEDCT ID:26336006,,,oculocutaneous albinism type 2,MONDO:0008746,,MeSH ID:C537730,oculocutaneous albinism type II,DOID:0070096,,OMIM ID:203200 +BMGC_DS04903,BMG_DS010174,"Ocular albinism, type II",UMLS ID:C0268505,"Ocular albinism, type II | Forsius-Eriksson syndrome | Aland island eye disease | Forsius-Eriksson type ocular albinism | Ocular albinism, type II (disorder) | Ocular albinism, type II | Ocular albinism, type II (disorder)",SNOMEDCT ID:266455006 | SNOMEDCT ID:44967007,,,Aland island eye disease,MONDO:0010371,,,,,,OMIM ID:300600 +BMGC_DS04904,BMG_DS010179,Disorder of histidine metabolism,UMLS ID:C0268512,Disorder of histidine metabolism | Disorder of histidine metabolism (disorder),SNOMEDCT ID:44176004,,,inborn disorder of histidine metabolism,MONDO:0019228,,,histidine metabolism disease,DOID:9265,, +BMGC_DS04905,BMG_DS010181,Urocanase deficiency,UMLS ID:C0268514,Urocanate hydratase deficiency | Urocanic aciduria | Urocanase deficiency | Urocanate hydratase deficiency (disorder),SNOMEDCT ID:60952007,,,urocanic aciduria,MONDO:0010167,,MeSH ID:C536479,urocanase deficiency,DOID:0112180,,OMIM ID:276880 | OMIM ID:MTHU037990 +BMGC_DS04906,BMG_DS010188,Glutamate-cysteine ligase deficiency,UMLS ID:C0268523,Glutamate-cysteine ligase deficiency | Gamma-glutamylcysteine synthetase deficiency | Gamma-glutamyl cysteine synthase deficiency | Glutamate-cysteine ligase deficiency (disorder) | Deficiency of glutamate-cysteine ligase,SNOMEDCT ID:36799008,,,,,,,,,, +BMGC_DS04907,BMG_DS010189,gamma-Glutamyltransferase deficiency,UMLS ID:C0268524,Gamma-glutamyl transpeptidase deficiency | Gamma-glutamyl transpeptidase deficiency (disorder) | Gamma-glutamyl transferase deficiency | Glutathionuria,SNOMEDCT ID:78586005,,,gamma-glutamyl transpeptidase deficiency,MONDO:0009285,,,gamma-glutamyl transpeptidase deficiency,DOID:0111257,,OMIM ID:231950 +BMGC_DS04908,BMG_DS010190,5-oxoprolinase deficiency,UMLS ID:C0268525,,,,,5-oxoprolinase deficiency,MONDO:0009825,,MeSH ID:C535322,,,,OMIM ID:260005 +BMGC_DS04909,BMG_DS010192,Hyperprolinemia,UMLS ID:C0268528,Hyperprolinemia | Hyperprolinaemia | Hyperprolinemia (disorder) | Hyperprolinaemia | Hyperprolinemia | Hyperprolinemia (disorder),SNOMEDCT ID:59655002 | SNOMEDCT ID:190735009,,,hyperprolinemia,MONDO:0023419,,,,,, +BMGC_DS04910,BMG_DS010193,Proline dehydrogenase deficiency,UMLS ID:C0268529,"Proline dehydrogenase deficiency | Hyperprolinemia, type I | Proline oxidase deficiency | Hyperprolinaemia, type I | Proline dehydrogenase deficiency (disorder) | Hyperprolinaemia type I | Hyperprolinemia type I",SNOMEDCT ID:61071003,,,hyperprolinemia type 1,MONDO:0009400,,,,,,OMIM ID:239500 +BMGC_DS04911,BMG_DS010194,Hydroxyprolinemia,UMLS ID:C0268531,Hyperhydroxyprolinemia | Hydroxyprolinemia | Hydroxyprolinaemia | Hyperhydroxyprolinaemia | Hyperhydroxyprolinemia (disorder),SNOMEDCT ID:25739007,,,hydroxyprolinemia,MONDO:0009374,,MeSH ID:C562669,,,,OMIM ID:237000 +BMGC_DS04912,BMG_DS010195,Deficiency of prolidase,UMLS ID:C0268532,Deficiency of prolidase | Deficiency of Xaa-Pro dipeptidase | Deficiency of Xaa-Pro dipeptidase (disorder) | Deficiency of proline dipeptidase | Deficiency of imidodipeptidase | Deficiency of proline dipeptidase | Deficiency of proline dipeptidase (disorder),SNOMEDCT ID:360994007 | SNOMEDCT ID:124488001,,,prolidase deficiency,MONDO:0008221,,,prolidase deficiency,DOID:0111540,,OMIM ID:170100 +BMGC_DS04913,BMG_DS010199,Glucoglycinuria,UMLS ID:C0268536,Glucoglycinuria | Glucoglycinuria (finding),SNOMEDCT ID:9111008,,,Glucoglycinuria,MONDO:0007673,,MeSH ID:C562670,,,,OMIM ID:138070 +BMGC_DS04914,BMG_DS010200,HHH syndrome,UMLS ID:C0268540,,,,,ornithine translocase deficiency,MONDO:0009393,,MeSH ID:C538380,,,,OMIM ID:238970 +BMGC_DS04915,BMG_DS010201,Ornithine carbamoyltransferase deficiency,UMLS ID:C0268542,Ornithine carbamoyltransferase deficiency | Ornithine transcarbamylase deficiency | Deficiency of citrulline phosphorylase | Ornithine transcarbamoylase deficiency | Deficiency of ornithine carbamoyltransferase | Deficiency of ornithine transcarbamylase | Ornithine carbamoyltransferase deficiency (disorder) | OCT (ornithine carbamoyltransferase) deficiency | OTC (ornithine transcarbamylase) deficiency | OTC-gene related ornithine carbamoyltransferase deficiency,SNOMEDCT ID:80908008,,,ornithine carbamoyltransferase deficiency,MONDO:0010703,,,ornithine carbamoyltransferase deficiency,DOID:9271,,OMIM ID:311250 +BMGC_DS04916,BMG_DS010202,"Hyperammonemia, type III",UMLS ID:C0268543,"Hyperammonemia, type III | N-acetylglutamate synthetase deficiency | Amino acid acetyltransferase deficiency | N-acetylglutamate transferase deficiency | Congenital AGA deficiency | NAGS deficiency | Hyperammonaemia, type III | Hyperammonemia, type III (disorder) | N-Acetylglutamate synthase deficiency | NAGS - N-Acetylglutamate synthase deficiency | NAGS-gene related hyperammonemia type III | NAGS-gene related hyperammonaemia type III",SNOMEDCT ID:57119000,,,hyperammonemia due to N-acetylglutamate synthase deficiency,MONDO:0009377,,,,,,OMIM ID:237310 +BMGC_DS04917,BMG_DS010205,Late-onset citrullinemia type I,UMLS ID:C0268546,Late-onset citrullinemia type I | Late-onset citrullinaemia type I | Late-onset citrullinemia type 1 | Late-onset citrullinemia type I (disorder) | Late-onset citrullinaemia type 1,SNOMEDCT ID:1264112006,,,,,,,,,, +BMGC_DS04918,BMG_DS010206,Argininosuccinic Aciduria,UMLS ID:C0268547,,,,,argininosuccinic aciduria,MONDO:0008815,Argininosuccinic Aciduria,MeSH ID:D056807,argininosuccinic aciduria,DOID:14755,,OMIM ID:207900 +BMGC_DS04919,BMG_DS010207,Hyperargininemia,UMLS ID:C0268548,Arginase deficiency | Argininemia | Hyperargininemia | ARGI deficiency | Argininaemia | Hyperargininaemia | Arginase deficiency (disorder) | Deficiency of arginase | ARG1-gene related arginase deficiency | Arginase 1-gene related arginase deficiency,SNOMEDCT ID:23501004,,,hyperargininemia,MONDO:0008814,Hyperargininemia,MeSH ID:D020162,hyperargininemia,DOID:9278,,OMIM ID:207800 +BMGC_DS04920,BMG_DS010209,Disorder of lysine AND/OR hydroxylysine metabolism,UMLS ID:C0268552,Disorder of lysine AND/OR hydroxylysine metabolism | Disorder of lysine AND/OR hydroxylysine metabolism (disorder),SNOMEDCT ID:77402005,,,inborn disorder of lysine and hydroxylysine metabolism,MONDO:0017351,,,,,, +BMGC_DS04921,BMG_DS010210,Hyperlysinemias,UMLS ID:C0268553,,,,,hyperlysinemia,MONDO:0009388,Hyperlysinemias,MeSH ID:D020167,hyperlysinemia,DOID:9274,,OMIM ID:238700 +BMGC_DS04922,BMG_DS010212,"Hyperlysinemia, Periodic",UMLS ID:C0268555,,,,,hyperlysinuria with hyperammonemia,MONDO:0009390,Hyperlysinemias,MeSH ID:D020167,,,,OMIM ID:238750 +BMGC_DS04923,BMG_DS010213,Saccharopinuria,UMLS ID:C0268556,Saccharopinuria | Saccharopinuria (disorder),SNOMEDCT ID:190726002 | SNOMEDCT ID:111397004,,,saccharopinuria,MONDO:0010005,,,,,,OMIM ID:268700 +BMGC_DS04924,BMG_DS010217,"Hyperglycinemia, Nonketotic, Type I",UMLS ID:C0268561,,,,,,,"Hyperglycinemia, Nonketotic",MeSH ID:D020158,,,, +BMGC_DS04925,BMG_DS010218,"Hyperglycinemia, Nonketotic, Type II",UMLS ID:C0268562,,,,,,,"Hyperglycinemia, Nonketotic",MeSH ID:D020158,,,, +BMGC_DS04926,BMG_DS010219,Sarcosinemia,UMLS ID:C0268563,Sarcosine dehydrogenase deficiency | Sarcosinuria | Sarcosinemia | Hypersarcosinemia | Deficiency of the sarcosine dehydrogenase complex | Demethylation defect of N-methylglycine | Sarcosinaemia | Hypersarcosinaemia | Sarcosine dehydrogenase deficiency (disorder),SNOMEDCT ID:64852002,,,sarcosinemia,MONDO:0010008,,MeSH ID:C537236,sarcosinemia,DOID:0112307,ICD10 ID:E72.59,OMIM ID:268900 +BMGC_DS04927,BMG_DS010223,Classic Maple Syrup Urine Disease,UMLS ID:C0268568,,,,,classic maple syrup urine disease,MONDO:0017051,Maple Syrup Urine Disease,MeSH ID:D008375,,,, +BMGC_DS04928,BMG_DS010224,Intermittent Maple Syrup Urine Disease,UMLS ID:C0268569,,,,,intermittent maple syrup urine disease,MONDO:0017053,Maple Syrup Urine Disease,MeSH ID:D008375,,,, +BMGC_DS04929,BMG_DS010227,Valinemia,UMLS ID:C0268573,Hypervalinemia | Valine transaminase deficiency | Valinemia | Valinaemia | Hypervalinaemia | Hypervalinemia (disorder),SNOMEDCT ID:47719001,,,Valinemia,MONDO:0010174,,MeSH ID:C536524,,,,OMIM ID:277100 +BMGC_DS04930,BMG_DS010228,Hyperleucine-Isoleucinemia,UMLS ID:C0268574,,,,,hyperleucine-Isoleucinemia,MONDO:0009385,,MeSH ID:C562674,,,,OMIM ID:238340 +BMGC_DS04931,BMG_DS010229,Isovaleryl-CoA dehydrogenase deficiency,UMLS ID:C0268575,Isovaleryl-CoA dehydrogenase deficiency | Isovaleric acidemia | Isovaleric acid CoA dehydrogenase deficiency | Isovaleric acidaemia | Isovaleric acid-CoA dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency | Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency,SNOMEDCT ID:87827003,,,isovaleric acidemia,MONDO:0009475,,,isovaleric acidemia,DOID:14753,,OMIM ID:243500 +BMGC_DS04932,BMG_DS010232,Propionic acidemia,UMLS ID:C0268579,Propionic acidemia | Propionic acidaemia | Ketotic glycinaemia | Ketotic hyperglycinaemia | Hyperglycinaemia with ketosis and leucopenia | Hyperglycinemia with ketosis and leukopenia | Ketotic glycinemia | Ketotic hyperglycinemia | Propionic acidemia (disorder) | Propionyl-CoA carboxylase deficiency | PCC - Propionyl-CoA carboxylase deficiency | Propionic aciduria,SNOMEDCT ID:69080001,,,propionic acidemia,MONDO:0011628,,,propionic acidemia,DOID:14701,ICD10 ID:E71.121,OMIM ID:606054 +BMGC_DS04933,BMG_DS010233,Holocarboxylase Synthetase Deficiency,UMLS ID:C0268581,,,,,holocarboxylase synthetase deficiency,MONDO:0009666,Holocarboxylase Synthetase Deficiency,MeSH ID:D028922,holocarboxylase synthetase deficiency,DOID:859,,OMIM ID:253270 +BMGC_DS04934,BMG_DS010234,Methylmalonic acidemia,UMLS ID:C0268583,Methylmalonic acidemia | Methylmalonic acidaemia | Methylmalonic acidemia (disorder) | MMA - Methylmalonic aciduria | Disorder of amino acid metabolism: [methylmalonic acidemia] or [other specified straight-chain] | Other specified disturbance of other straight-chain amino-acid metabolism | Disorder of amino acid metabolism: [methylmalonic acidaemia] or [other specified straight-chain] | Methylmalonic acidemia | Methylmalonic acidaemia | Disorder of amino acid metabolism: [methylmalonic acidaemia] or [other specified straight-chain] (disorder),SNOMEDCT ID:42393006 | SNOMEDCT ID:190727006,,,methylmalonic acidemia,MONDO:0002012,,MeSH ID:C537358,methylmalonic acidemia,DOID:14749,ICD10 ID:E71.120,OMIM ID:MTHU037722 +BMGC_DS04935,BMG_DS010238,"Glutaric aciduria, type 1",UMLS ID:C0268595,"Glutaric aciduria, type 1 | Glutaric acidemia, type 1 | GA I | Glutaric aciduria type I | Glutaric acidaemia, type 1 | Glutaric aciduria, type 1 (disorder)",SNOMEDCT ID:76175005,,,glutaryl-CoA dehydrogenase deficiency,MONDO:0009281,,,,,,OMIM ID:231670 +BMGC_DS04936,BMG_DS010239,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,UMLS ID:C0268596,,,,,multiple acyl-CoA dehydrogenase deficiency,MONDO:0009282,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,MeSH ID:D054069,multiple acyl-CoA dehydrogenase deficiency,DOID:0060358,,OMIM ID:231680 +BMGC_DS04937,BMG_DS010243,3-methylcrotonyl CoA carboxylase 1 deficiency,UMLS ID:C0268600,,,,,3-methylcrotonyl-CoA carboxylase 1 deficiency,MONDO:0008861,,MeSH ID:C535308,3-methylcrotonyl-CoA carboxylase 1 deficiency,DOID:0080579,,OMIM ID:210200 +BMGC_DS04938,BMG_DS010244,,UMLS ID:C0268601,,,,,3-hydroxy-3-methylglutaric aciduria,MONDO:0009520,,,3-hydroxy-3-methylglutaryl-CoA lyase deficiency,DOID:0070541,,OMIM ID:246450 +BMGC_DS04939,BMG_DS010245,Acetyl-CoA: carboxylase deficiency,UMLS ID:C0268603,Deficiency of acetyl-CoA carboxylase | Deficiency of acetyl-coenzyme A carboxylase (disorder) | Acetyl-CoA carboxylase deficiency | Deficiency of acetyl-coenzyme A carboxylase,SNOMEDCT ID:4920001,,,acetyl-coa carboxylase deficiency,MONDO:0013493,,,,,,OMIM ID:613933 +BMGC_DS04940,BMG_DS010248,Glutamate formiminotransferase deficiency,UMLS ID:C0268609,Glutamate formiminotransferase deficiency | FIGLUria | Formiminoglutamic aciduria | Deficiency of glutamate formiminotransferase | Deficiency of glutamate formyltransferase | Glutamate formiminotransferase deficiency (disorder),SNOMEDCT ID:59761008,,,formiminoglutamic aciduria,MONDO:0009240,,MeSH ID:C537425,glutamate formiminotransferase deficiency,DOID:0111679,,OMIM ID:229100 +BMGC_DS04941,BMG_DS010251,Disorder of sulfur-bearing amino acid metabolism,UMLS ID:C0268613,Disorder of sulphur-bearing amino acid metabolism | Disorder of transsulfuration | Sulfuraminoacidemia | Disorder of sulfur-bearing amino acid metabolism | Disorder of transsulphuration | Sulphuraminoacidaemia | Disorder of sulphur-bearing amino acid including those due to folate and B12 disturbance | Disorder of sulfur-bearing amino acid including those due to folate and B12 disturbance | Disorder of sulfur-bearing amino acid metabolism (disorder),SNOMEDCT ID:28882002,,,,,,,,,, +BMGC_DS04942,BMG_DS010253,Gamma-cystathionase deficiency,UMLS ID:C0268616,Cystathionine gamma-lyase deficiency | Gamma-cystathionase deficiency | Cystathionine gamma-lyase deficiency (disorder) | Deficiency of cystine desulphydrase | Deficiency of cysteine desulphydrase | Deficiency of cysteine desulfhydrase | Deficiency of cystine desulfhydrase | Deficiency of homoserine deaminase | Deficiency of cystathionase,SNOMEDCT ID:6885006,,,,,,MeSH ID:C535408,cystathioninuria,DOID:0090142,, +BMGC_DS04943,BMG_DS010254,Homocystinemia,UMLS ID:C0268617,Homocystinemia | Homocystinaemia | Homocystinemia (disorder),SNOMEDCT ID:52311001,,,,,,,,,, +BMGC_DS04944,BMG_DS010257,Hepatic methionine adenosyltransferase deficiency,UMLS ID:C0268621,Hepatic methionine adenosyltransferase deficiency | Hepatic methionine adenosyltransferase deficiency (disorder) | Hepatic methionine adenosyltransferase deficiency | MAT deficiency | Methionine adenosyltransferase deficiency | Hepatic methionine adenosyltransferase deficiency (disorder),SNOMEDCT ID:267420003 | SNOMEDCT ID:57835009,,,methionine adenosyltransferase deficiency,MONDO:0009607,,,,,,OMIM ID:250850 +BMGC_DS04945,BMG_DS010258,Methionine Malabsorption Syndrome,UMLS ID:C0268622,,,,,methionine malabsorption syndrome,MONDO:0009608,,MeSH ID:C562682,,,,OMIM ID:250900 +BMGC_DS04946,BMG_DS010259,"Tyrosinemia, Type III",UMLS ID:C0268623,,,,,tyrosinemia type III,MONDO:0010162,Tyrosinemias,MeSH ID:D020176,,,,OMIM ID:276710 +BMGC_DS04947,BMG_DS010260,Sulfite oxidase deficiency,UMLS ID:C0268624,Sulfite oxidase deficiency | Sulphite oxidase deficiency | Sulfite oxidase deficiency (disorder) | Sulfite oxidase deficiency | Sulphite oxidase deficiency | Sulphite oxidase deficiency (disorder),SNOMEDCT ID:367368009 | SNOMEDCT ID:237935000,,,isolated sulfite oxidase deficiency,MONDO:0010089,,MeSH ID:C538141,isolated sulfite oxidase deficiency,DOID:0111270,ICD10 ID:E72.19,OMIM ID:272300 | OMIM ID:MTHU058999 +BMGC_DS04948,BMG_DS010261,Juvenile nephropathic cystinosis (disorder),UMLS ID:C0268626,"Juvenile nephropathic cystinosis | Adolescent cystinosis | Intermediate cystinosis | Late-onset cystinosis | Cystinosis, type II | Juvenile cystinosis | Juvenile nephropathic cystinosis (disorder)",SNOMEDCT ID:22830006,,,juvenile nephropathic cystinosis,MONDO:0009066,,,,,,OMIM ID:219900 +BMGC_DS04949,BMG_DS010263,Hyper-beta-alaninemia,UMLS ID:C0268630,Hyper-beta-alaninemia | Hyperalaninemia | Hyperalaninaemia | Hyper-beta-alaninaemia | Hyper-beta-alaninemia (disorder),SNOMEDCT ID:2359002,,,hyper-beta-alaninemia,MONDO:0009378,,,,,,OMIM ID:237400 +BMGC_DS04950,BMG_DS010264,succinic semialdehyde dehydrogenase deficiency,UMLS ID:C0268631,,,,,succinic semialdehyde dehydrogenase deficiency,MONDO:0010083,,MeSH ID:C535803,succinic semialdehyde dehydrogenase deficiency,DOID:0060175,,OMIM ID:271980 +BMGC_DS04951,BMG_DS010265,Homocarnosinosis,UMLS ID:C0268632,Homocarnosinosis | Homocarnosinosis (disorder) | Homocarnosinosis | Serum carnosinase deficiency | Homocarnosinosis (disorder),SNOMEDCT ID:237942000 | SNOMEDCT ID:274616003,,,homocarnosinosis,MONDO:0009351,,MeSH ID:C535328,homocarnosinosis,DOID:0060177,,OMIM ID:236130 +BMGC_DS04952,BMG_DS010266,Disorder of fatty acid metabolism,UMLS ID:C0268634,Disorder of fatty acid metabolism | Disorder of fatty acid metabolism (disorder) | Disorder of fatty acid metabolism | Disorders of fatty-acid metabolism | Disorder of fat oxidation | Disorder of fatty acid metabolism (disorder),SNOMEDCT ID:190729009 | SNOMEDCT ID:39929009,,,inherited fatty acid metabolism disorder,MONDO:0037858,,,,,, +BMGC_DS04953,BMG_DS010272,Histidinuria renal tubular defect,UMLS ID:C0268642,,,,,histidinuria due to a renal tubular defect,MONDO:0009346,,MeSH ID:C538321,,,,OMIM ID:235830 +BMGC_DS04954,BMG_DS010277,Lysinuric Protein Intolerance,UMLS ID:C0268647,,,,,lysinuric protein intolerance,MONDO:0009109,,MeSH ID:C562687,lysinuric protein intolerance,DOID:0060439,,OMIM ID:222700 +BMGC_DS04955,BMG_DS010282,Iminoglycinuria,UMLS ID:C0268654,Iminoglycinuria | Iminoglycinuria (disorder),SNOMEDCT ID:84121007,,,iminoglycinuria,MONDO:0009448,,MeSH ID:C536285,iminoglycinuria,DOID:0112265,,OMIM ID:MTHU056935 | OMIM ID:242600 +BMGC_DS04956,BMG_DS010294,Wet beriberi,UMLS ID:C0268669,Wet beriberi | Cardiovascular beriberi | Wet beriberi (disorder),SNOMEDCT ID:67360000,,,wet beriberi,MONDO:0024183,,,wet beriberi,DOID:0070317,ICD10 ID:E51.12, +BMGC_DS04957,BMG_DS010295,Dry beriberi,UMLS ID:C0268670,Dry beriberi | Dry beriberi (disorder) | Beriberi neuropathy | Thiamine deficiency neuropathy | Vitamin B>1< deficiency neuropathy | Neuropathic beriberi | Neuropathy due to vitamin B1 deficiency | Polyneuropathy in beriberi | Beriberi neuropathy (disorder),SNOMEDCT ID:71021002 | SNOMEDCT ID:79389008,,,dry beriberi,MONDO:0024182,,,dry beriberi,DOID:0070318,ICD10 ID:E51.11, +BMGC_DS04958,BMG_DS010302,Biotin deficiency,UMLS ID:C0268680,Biotin deficiency (disorder) | Biotin deficiency | Deficiency of biotin,SNOMEDCT ID:413652008,Unspecified undernutrition,ICD11 ID:5B7Z,,,,MeSH ID:C531633,biotin deficiency,DOID:0050810,ICD10 ID:E53.8, +BMGC_DS04959,BMG_DS010307,"Vitamin D-dependent rickets, type 1",UMLS ID:C0268689,"Vitamin D-dependent rickets, type 1 | Calcidiol 1-monooxygenase defect | Pseudo-vitamin-D-deficient rickets | Pseudodeficiency rickets | Pseudovitamin D-resistant rickets | PDDR - Pseudovitamin D deficiency rickets | 25-Hydroxycholecalciferol-1-hydroxylase deficiency | Vitamin D-dependent rickets type I | VDDR I - Vitamin D-dependent rickets type I | Pseudovitamin D deficiency rickets | Vitamin D-dependent rickets, type 1 (disorder) | 1-alpha-hydroxylase deficiency",SNOMEDCT ID:67049004,,,"vitamin D-dependent rickets, type 1",MONDO:0009924,,,,,, +BMGC_DS04960,BMG_DS010316,Uremic neuropathy,UMLS ID:C0268708,Uremic neuropathy | Uraemic neuropathy | Uremic neuropathy (disorder),SNOMEDCT ID:11659006,,,uremic neuropathy,MONDO:0003084,,,uremic neuropathy,DOID:4675,, +BMGC_DS04961,BMG_DS010328,Calculous pyelonephritis,UMLS ID:C0268722,Calculous pyelonephritis | Pyelonephritis due to kidney stone | Pyelonephritis due to kidney stone (disorder) | Calculous pyelonephritis | Calculous pyelonephritis (disorder),SNOMEDCT ID:23754003 | SNOMEDCT ID:197766000,,,,,,,,,ICD10 ID:N20, +BMGC_DS04962,BMG_DS010333,Renal glomerular disease,UMLS ID:C0268731,Renal glomerular disease | Renal glomerular syndrome | Renal glomerular disorder | Renal glomerular disease (disorder),SNOMEDCT ID:76910007,,,,,,,,,, +BMGC_DS04963,BMG_DS010336,Acute nephropathy,UMLS ID:C0268734,Acute nephropathy | Acute nephropathy (disorder) | AKD - acute kidney disease,SNOMEDCT ID:58574008,,,,,,,,,, +BMGC_DS04964,BMG_DS010342,"Membranoproliferative Glomerulonephritis, Type I",UMLS ID:C0268742,,,,,,,"Glomerulonephritis, Membranoproliferative",MeSH ID:D015432,,,, +BMGC_DS04965,BMG_DS010343,"Membranoproliferative Glomerulonephritis, Type II",UMLS ID:C0268743,,,,,dense deposit disease,MONDO:0019736,"Glomerulonephritis, Membranoproliferative",MeSH ID:D015432,,,, +BMGC_DS04966,BMG_DS010347,Diffuse mesangial sclerosis (disorder),UMLS ID:C0268747,Diffuse mesangial sclerosis | Diffuse mesangial sclerosis (disorder),SNOMEDCT ID:111406002,,,,,,,,,, +BMGC_DS04967,BMG_DS010382,Renal vascular disorder,UMLS ID:C0268790,Renal vascular disorder | Vascular disorder of kidney | Renal vascular disease | Renal vascular disorder (disorder),SNOMEDCT ID:16934004,,,,,,,renal artery disease,DOID:2388,, +BMGC_DS04968,BMG_DS010391,Acquired renal cystic disease,UMLS ID:C0268799,Acquired renal cystic disease | Acquired renal cystic disease (disorder) | Acquired renal cyst,SNOMEDCT ID:105999006,,,non-congenital cyst of kidney,MONDO:0004840,,,non-congenital cyst of kidney,DOID:9621,, +BMGC_DS04969,BMG_DS010402,Dipsogenic Diabetes Insipidus,UMLS ID:C0268813,,,,,dipsogenic diabetes insipidus,MONDO:0022993,,MeSH ID:C548013,dipsogenic diabetes insipidus,DOID:0081058,, +BMGC_DS04970,BMG_DS010408,Lower urinary tract infectious disease,UMLS ID:C0268821,Lower urinary tract infectious disease | Lower urinary tract infection | UTI - Lower urinary tract infection | Lower urinary tract infectious disease (disorder),SNOMEDCT ID:4009004,,,,,,,,,, +BMGC_DS04971,BMG_DS010421,Cystitis glandularis,UMLS ID:C0268837,Cystitis glandularis | Cystitis glandularis (disorder),SNOMEDCT ID:72815004,,,glandular cystitis,MONDO:0002287,,,glandular cystitis,DOID:2392,, +BMGC_DS04972,BMG_DS010424,Overactive Detrusor,UMLS ID:C0268849,,,,,,,"Urinary Bladder, Overactive",MeSH ID:D053201,,,, +BMGC_DS04973,BMG_DS010531,Fibrosis of corpus cavernosum,UMLS ID:C0269014,Fibrosis of corpus cavernosum | Fibrosis of corpus cavernosum (disorder),SNOMEDCT ID:32608004,,,,,,,,,, +BMGC_DS04974,BMG_DS010545,Female acute pelvic peritonitis,UMLS ID:C0269032,,,"Female pelvic peritonitis, unspecified",ICD11 ID:GA05.2,acute female pelvic peritonitis,MONDO:0004940,,,acute female pelvic peritonitis,DOID:9978,ICD10 ID:N73.3, +BMGC_DS04975,BMG_DS010551,Acute salpingitis,UMLS ID:C0269038,Acute salpingitis | Acute salpingitis (disorder),SNOMEDCT ID:8912009,,,acute salpingitis,MONDO:0001173,,,acute salpingitis,DOID:10973,ICD10 ID:N70.01, +BMGC_DS04976,BMG_DS010553,Chronic salpingitis,UMLS ID:C0269041,Chronic salpingitis | Chronic salpingitis (disorder),SNOMEDCT ID:55551005,,,chronic salpingitis,MONDO:0003617,,,chronic salpingitis,DOID:5731,ICD10 ID:N70.11, +BMGC_DS04977,BMG_DS010555,Salpingitis isthmica nodosa,UMLS ID:C0269043,Salpingitis isthmica nodosa | Adenosis of fallopian tube | Adenosalpingitis | Salpingitis isthmica nodosa (disorder),SNOMEDCT ID:36742000,,,salpingitis isthmica nodosa,MONDO:0003616,,,salpingitis isthmica nodosa,DOID:5730,, +BMGC_DS04978,BMG_DS010557,Inflammatory disease of the uterus,UMLS ID:C0269047,Inflammatory disease of the uterus | Inflammatory disease of the uterus (disorder),SNOMEDCT ID:28783002,,,uterine inflammatory disease,MONDO:0001786,,,uterine inflammatory disease,DOID:13736,, +BMGC_DS04979,BMG_DS010560,Endomyometritis,UMLS ID:C0269050,Endomyometritis | Endomyometritis (disorder),SNOMEDCT ID:88027004,,,endomyometritis,MONDO:0042451,Endometritis,MeSH ID:D004716,,,, +BMGC_DS04980,BMG_DS010569,Acute cervicitis,UMLS ID:C0269061,Acute cervicitis | Acute cervicitis (disorder),SNOMEDCT ID:19272000,,,acute cervicitis,MONDO:0001081,,,acute cervicitis,DOID:10616,, +BMGC_DS04981,BMG_DS010570,Chronic cervicitis,UMLS ID:C0269062,Chronic cervicitis | Chronic cervicitis (disorder),SNOMEDCT ID:56728002 | SNOMEDCT ID:198210003,,,chronic cervicitis,MONDO:0002030,,,chronic cervicitis,DOID:1513,, +BMGC_DS04982,BMG_DS010605,Endosalpingiosis,UMLS ID:C0269106,Endosalpingiosis | Endosalpingiosis (disorder),SNOMEDCT ID:55850004,,,endosalpingiosis,MONDO:0001283,,,endosalpingiosis,DOID:11427,, +BMGC_DS04983,BMG_DS010606,Endometriosis of cervix,UMLS ID:C0269107,Endometriosis of cervix | Endometriosis of cervix (disorder),SNOMEDCT ID:61640006,,,cervix endometriosis,MONDO:0002706,,,cervix endometriosis,DOID:361,, +BMGC_DS04984,BMG_DS010647,,UMLS ID:C0269194,,,,,uterine cervix leukoplakia,MONDO:0004702,,,uterine cervix leukoplakia,DOID:9043,, +BMGC_DS04985,BMG_DS010694,,UMLS ID:C0269269,,,,,nipples inverted,MONDO:0008100,,,,,,OMIM ID:163600 +BMGC_DS04986,BMG_DS010821,,UMLS ID:C0269658,,,,,mild pre-eclampsia,MONDO:0001072,,,,,, +BMGC_DS04987,BMG_DS010832,Pruritic urticarial papules plaques of pregnancy,UMLS ID:C0269680,,,,,pruritic urticarial papules and plaques of pregnancy,MONDO:0008353,,MeSH ID:C535817,,,,OMIM ID:178995 +BMGC_DS04988,BMG_DS010900,Puerperal endometritis,UMLS ID:C0269932,Puerperal endometritis | Puerperal endometritis (disorder) | Puerperal endometritis | Puerperal endometritis (disorder) | Postpartum endometritis,SNOMEDCT ID:200179002 | SNOMEDCT ID:22399000,,,,,,,,,, +BMGC_DS04989,BMG_DS010954,,UMLS ID:C0270163,,,,,pulmonary immaturity,MONDO:0002929,,,pulmonary immaturity,DOID:424,, +BMGC_DS04990,BMG_DS010968,Kernicterus due to isoimmunization,UMLS ID:C0270204,Kernicterus - due to isoimm. | Kernicterus | Kernicterus (& [due to isoimmunization]) | Kernicterus (& [due to isoimmunisation]) | Kernicterus due to isoimmunisation | Kernicterus due to isoimmunization | Kernicterus (& [due to isoimmunisation]) (disorder) | Kernicterus due to isoimmunization | Kernicterus due to isoimmunisation | Kernicterus due to isoimmunization (disorder) | Kernicterus (& [due to isoimmunization]) | Kernicterus (& [due to isoimmunisation]) | Kernicterus due to isoimmunization | Kernicterus due to isoimmunisation | Kernicterus | Kernicterus - due to isoimm. | Kernicterus (& [due to isoimmunisation]) (disorder) | Kernicterus due to isoimmunisation | Kernicterus due to isoimmunization | Kernicterus due to isoimmunization (disorder),SNOMEDCT ID:157135006 | SNOMEDCT ID:359007 | SNOMEDCT ID:268880009 | SNOMEDCT ID:206433007,Neonatal kernicterus,ICD11 ID:KA86,kernicterus due to isoimmunization,MONDO:0006567,,,kernicterus due to isoimmunization,DOID:12043,ICD10 ID:P57.0, +BMGC_DS04991,BMG_DS010972,Lucey-Driscoll syndrome (disorder),UMLS ID:C0270210,Lucey-Driscoll syndrome | Transient familial neonatal hyperbilirubinaemia | Transient familial neonatal hyperbilirubinemia | Lucey-Driscoll syndrome (disorder),SNOMEDCT ID:47444008,,,transient familial neonatal hyperbilirubinemia,MONDO:0009383,,,,,,OMIM ID:237900 +BMGC_DS04992,BMG_DS010980,"Tetany, Neonatal",UMLS ID:C0270224,,,,,,,Tetany,MeSH ID:D013746,,,, +BMGC_DS04993,BMG_DS011013,,UMLS ID:C0270327,,,,,nocturnal enuresis,MONDO:0000022,,,,,, +BMGC_DS04994,BMG_DS011014,,UMLS ID:C0270398,,,,,,,,,paranoid schizophrenia,DOID:1229,, +BMGC_DS04995,BMG_DS011016,,UMLS ID:C0270549,,,,,generalized anxiety disorder,MONDO:0001942,,,generalized anxiety disorder,DOID:14320,, +BMGC_DS04996,BMG_DS011019,Leukoencephalopathy,UMLS ID:C0270612,Leukoencephalopathy | Leukoencephalopathy (disorder) | Leucoencephalopathy,SNOMEDCT ID:22811006,,,,,Leukoencephalopathies,MeSH ID:D056784,,,,OMIM ID:MTHU001673 +BMGC_DS04997,BMG_DS011027,"Myelitis, Acute Transverse",UMLS ID:C0270627,,,,,acute transverse myelitis,MONDO:0015342,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS04998,BMG_DS011029,Epidural Abscess,UMLS ID:C0270629,,,,,epidural abscess,MONDO:0005752,Epidural Abscess,MeSH ID:D020802,epidural abscess,DOID:11387,, +BMGC_DS04999,BMG_DS011034,Cavernous Sinus Thrombophlebitis,UMLS ID:C0270638,,,,,,,Cavernous Sinus Thrombosis,MeSH ID:D020226,,,, +BMGC_DS05000,BMG_DS011035,Lateral Sinus Thrombosis,UMLS ID:C0270639,,,,,lateral sinus thrombosis,MONDO:0002693,Lateral Sinus Thrombosis,MeSH ID:D020227,lateral sinus thrombosis,DOID:3574,, +BMGC_DS05001,BMG_DS011087,,UMLS ID:C0270707,,,,,Kluver-Bucy syndrome,MONDO:0005817,,,Kluver-Bucy syndrome,DOID:2510,, +BMGC_DS05002,BMG_DS011093,"Degenerative Diseases, Central Nervous System",UMLS ID:C0270715,,,,,,,Neurodegenerative Diseases,MeSH ID:D019636,,,, +BMGC_DS05003,BMG_DS011097,Hydrocephalus Ex-Vacuo,UMLS ID:C0270720,,,,,,,Hydrocephalus,MeSH ID:D006849,,,, +BMGC_DS05004,BMG_DS011101,Infantile Neuroaxonal Dystrophy,UMLS ID:C0270724,,,,,neurodegeneration with brain iron accumulation 2A,MONDO:0024457,Neuroaxonal Dystrophies,MeSH ID:D019150,,,,OMIM ID:256600 +BMGC_DS05005,BMG_DS011103,Alexander Disease,UMLS ID:C0270726,,,,,Alexander disease,MONDO:0008752,Alexander Disease,MeSH ID:D038261,Alexander disease,DOID:4252,,OMIM ID:203450 +BMGC_DS05006,BMG_DS011105,Striatonigral Degeneration,UMLS ID:C0270733,,,,,striatonigral degeneration,MONDO:0003122,Striatonigral Degeneration,MeSH ID:D020955,striatonigral degeneration,DOID:4751,, +BMGC_DS05007,BMG_DS011108,Essential Tremor,UMLS ID:C0270736,,,,,essential tremor,MONDO:0003233,Essential Tremor,MeSH ID:D020329,essential tremor,DOID:4990,, +BMGC_DS05008,BMG_DS011119,Marie Cerebellar Ataxia,UMLS ID:C0270749,,,,,hereditary cerebellar ataxia,MONDO:0100310,Spinocerebellar Degenerations,MeSH ID:D013132,,,, +BMGC_DS05009,BMG_DS011124,Corticostriatal-Spinal Degeneration,UMLS ID:C0270755,,,,,,,Spinocerebellar Degenerations,MeSH ID:D013132,,,, +BMGC_DS05010,BMG_DS011132,Familial Motor Neuron Disease,UMLS ID:C0270763,,,,,hereditary motor neuron disease,MONDO:0024257,Motor Neuron Disease,MeSH ID:D016472,,,, +BMGC_DS05011,BMG_DS011133,"Motor Neuron Disease, Lower",UMLS ID:C0270764,,,,,,,Motor Neuron Disease,MeSH ID:D016472,,,, +BMGC_DS05012,BMG_DS011134,Myelopathic Muscular Atrophy,UMLS ID:C0270765,,,,,,,"Muscular Atrophy, Spinal",MeSH ID:D009134,,,, +BMGC_DS05013,BMG_DS011148,Binswanger Disease,UMLS ID:C0270786,,,,,,,"Dementia, Vascular",MeSH ID:D015140,,,, +BMGC_DS05014,BMG_DS011165,Monoplegic Cerebral Palsy,UMLS ID:C0270807,,,,,cerebral palsy spastic monoplegic,MONDO:0022700,Cerebral Palsy,MeSH ID:D002547,,,, +BMGC_DS05015,BMG_DS011168,Peroneal Nerve Paralysis,UMLS ID:C0270810,,,,,peroneal nerve paralysis,MONDO:0006903,Peroneal Neuropathies,MeSH ID:D020427,peroneal nerve paralysis,DOID:6925,, +BMGC_DS05016,BMG_DS011173,"Reflex Epilepsy, Cursive (Running)",UMLS ID:C0270819,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS05017,BMG_DS011174,Gelastic Epilepsy,UMLS ID:C0270820,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS05018,BMG_DS011177,,UMLS ID:C0270824,,,,,visual epilepsy,MONDO:0001386,,,visual epilepsy,DOID:11832,, +BMGC_DS05019,BMG_DS011182,Focal onset impaired awareness epileptic seizure,UMLS ID:C0270834,Focal onset impaired awareness seizure | FIAS - focal impaired awareness seizure | Focal onset impaired awareness epileptic seizure | Focal-onset impaired awareness epileptic seizure | Focal onset impaired awareness epileptic seizure (finding) | Focal impaired awareness seizure,SNOMEDCT ID:407675009,,,,,,,,,, +BMGC_DS05020,BMG_DS011183,"Secondarily generalized seizures, NOS",UMLS ID:C0270838,Secondarily generalized seizures | Secondarily generalised seizures | Secondarily generalized seizures (finding),SNOMEDCT ID:20544001,,,,,,,,,, +BMGC_DS05021,BMG_DS011184,Tonic Seizures,UMLS ID:C0270844,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS05022,BMG_DS011185,Atonic seizure,UMLS ID:C0270846,Atonic seizures | Atonic seizure | Atonic seizure (disorder) | Atonic seizure | Atonic seizure (finding) | Atonic seizure - finding | Atonic seizure | Finding of atonic seizure (finding),SNOMEDCT ID:42365007 | SNOMEDCT ID:246554004 | SNOMEDCT ID:365883006,,,,,,,,,, +BMGC_DS05023,BMG_DS011186,"Benign Focal Epilepsy, Childhood",UMLS ID:C0270847,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS05024,BMG_DS011187,Extratemporal epilepsy,UMLS ID:C0270849,Extratemporal epilepsy | Extratemporal epilepsy (disorder),SNOMEDCT ID:111498005,,,extratemporal epilepsy,MONDO:0002338,,,extratemporal epilepsy,DOID:2544,, +BMGC_DS05025,BMG_DS011188,Idiopathic generalized epilepsy,UMLS ID:C0270850,Idiopathic generalized epilepsy | Idiopathic generalised epilepsy | Idiopathic generalized epilepsy (disorder) | IGE - idiopathic generalized epilepsy | IGE - idiopathic generalised epilepsy,SNOMEDCT ID:36803009,,,idiopathic generalized epilepsy,MONDO:0005579,,,,,,OMIM ID:600669 | OMIM ID:MTHU076671 +BMGC_DS05026,BMG_DS011189,,UMLS ID:C0270851,,,,,,,,,benign neonatal seizures,DOID:14264,, +BMGC_DS05027,BMG_DS011190,Juvenile Myoclonic Epilepsy,UMLS ID:C0270853,,,,,juvenile myoclonic epilepsy,MONDO:0009696,"Myoclonic Epilepsy, Juvenile",MeSH ID:D020190,juvenile myoclonic epilepsy,DOID:4890,,OMIM ID:254770 | OMIM ID:606904 +BMGC_DS05028,BMG_DS011191,Symptomatic Generalized Epilepsy,UMLS ID:C0270854,,,,,,,"Epilepsy, Generalized",MeSH ID:D004829,,,, +BMGC_DS05029,BMG_DS011192,Early myoclonic encephalopathy,UMLS ID:C0270855,Early myoclonic encephalopathy | Early myoclonic encephalopathy (disorder) | Symptomatic early myoclonic encephalopathy,SNOMEDCT ID:44423001,,,early myoclonic encephalopathy,MONDO:0016022,,,,,, +BMGC_DS05030,BMG_DS011193,"Epilepsy, Reflex",UMLS ID:C0270857,,,,,reflex epilepsy,MONDO:0017768,"Epilepsy, Reflex",MeSH ID:D020195,reflex epilepsy,DOID:2548,, +BMGC_DS05031,BMG_DS011194,Abdominal Migraine,UMLS ID:C0270858,,,,,,,Migraine Disorders,MeSH ID:D008881,,,, +BMGC_DS05032,BMG_DS011196,Basilar-Type Migraine,UMLS ID:C0270860,,,,,migraine with brainstem aura,MONDO:0043219,Migraine with Aura,MeSH ID:D020325,,,, +BMGC_DS05033,BMG_DS011198,Hemiplegic migraine,UMLS ID:C0270862,Hemiplegic migraine | Hemiplegic migraine (disorder),SNOMEDCT ID:59292006,,,,,,,,,ICD10 ID:G43.4, +BMGC_DS05034,BMG_DS011204,Facial Myokymia,UMLS ID:C0270871,,,,,isolated facial myokymia,MONDO:0016373,Facial Nerve Diseases,MeSH ID:D005155,,,, +BMGC_DS05035,BMG_DS011208,Facial Nerve Motor Disorders,UMLS ID:C0270876,,,,,,,Facial Nerve Diseases,MeSH ID:D005155,,,, +BMGC_DS05036,BMG_DS011209,Facial Nerve Sensory Disorders,UMLS ID:C0270877,,,,,,,Facial Nerve Diseases,MeSH ID:D005155,,,, +BMGC_DS05037,BMG_DS011230,Common peroneal nerve lesion (disorder),UMLS ID:C0270909,Common peroneal nerve lesion (disorder) | Common peroneal nerve lesion | Lateral popliteal nerve lesion | Lesion of lateral popliteal nerve | Lesion of common peroneal nerve,SNOMEDCT ID:399107008,,,common peroneal nerve lesion,MONDO:0001542,,,common peroneal nerve lesion,DOID:12527,, +BMGC_DS05038,BMG_DS011232,,UMLS ID:C0270911,,,,,Charcot-Marie-Tooth disease type 1A,MONDO:0007309,,,,,,OMIM ID:118220 +BMGC_DS05039,BMG_DS011233,,UMLS ID:C0270912,,,,,Charcot-Marie-Tooth disease type 1B,MONDO:0007307,,,,,,OMIM ID:118200 +BMGC_DS05040,BMG_DS011234,"Charcot-Marie-Tooth disease, Type 1C",UMLS ID:C0270913,,,,,Charcot-Marie-Tooth disease type 1C,MONDO:0010995,,MeSH ID:C537984,Charcot-Marie-Tooth disease type 1C,DOID:0110151,,OMIM ID:601098 +BMGC_DS05041,BMG_DS011235,Hereditary Motor and Sensory-Neuropathy Type II,UMLS ID:C0270914,,,,,Charcot-Marie-Tooth disease type 2,MONDO:0018993,Charcot-Marie-Tooth Disease,MeSH ID:D002607,hereditary sensory and autonomic neuropathy type 2,DOID:0070161,, +BMGC_DS05042,BMG_DS011237,Axonal neuropathy,UMLS ID:C0270921,Axonal neuropathy | Axonal neuropathy (disorder),SNOMEDCT ID:60703000,,,,,,,axonal neuropathy,DOID:7319,,OMIM ID:MTHU003516 +BMGC_DS05043,BMG_DS011238,Peripheral demyelinating neuropathy,UMLS ID:C0270922,Demyelinating polyneuropathy | Peripheral demyelinating neuropathy | Peripheral demyelinating neuropathy (disorder),SNOMEDCT ID:23414001,,,demyelinating polyneuropathy,MONDO:0003334,,,demyelinating polyneuropathy,DOID:5214,,OMIM ID:MTHU036239 +BMGC_DS05044,BMG_DS011244,Paraneoplastic Polyneuropathy,UMLS ID:C0270932,,,,,paraneoplastic polyneuropathy,MONDO:0006888,Paraneoplastic Polyneuropathy,MeSH ID:D020364,paraneoplastic polyneuropathy,DOID:8681,, +BMGC_DS05045,BMG_DS011259,"Muscular Dystrophy, Oculopharyngeal",UMLS ID:C0270952,,,,,oculopharyngeal muscular dystrophy,MONDO:0008116,"Muscular Dystrophy, Oculopharyngeal",MeSH ID:D039141,oculopharyngeal muscular dystrophy,DOID:11719,, +BMGC_DS05046,BMG_DS011264,Myotonia Levior,UMLS ID:C0270959,,,,,Thomsen and Becker disease,MONDO:0009710,Myotonia Congenita,MeSH ID:D009224,,,, +BMGC_DS05047,BMG_DS011265,Congenital myopathy (disorder),UMLS ID:C0270960,Congenital myopathy | Congenital myopathy (disorder),SNOMEDCT ID:18148005,,,congenital myopathy,MONDO:0019952,,,,,, +BMGC_DS05048,BMG_DS011267,Multi-core congenital myopathy,UMLS ID:C0270962,Multi-core congenital myopathy | Multi-core disease | Multi-core congenital myopathy (disorder) | Minicore disease | Multicore disease | Multiminicore disease | Multi-minicore disease,SNOMEDCT ID:55133004,,,multiminicore myopathy,MONDO:0018948,,,,,, +BMGC_DS05049,BMG_DS011272,Limb-girdle muscular dystrophy type 2H,UMLS ID:C0270968,,,,,autosomal recessive limb-girdle muscular dystrophy type 2H,MONDO:0009683,,MeSH ID:C535897,,,,OMIM ID:254110 +BMGC_DS05050,BMG_DS011273,Zebra body myopathy,UMLS ID:C0270969,Zebra body myopathy | Zebra body myopathy (disorder),SNOMEDCT ID:34513009,,,zebra body myopathy,MONDO:0019949,,,,,, +BMGC_DS05051,BMG_DS011274,Reducing-body myopathy,UMLS ID:C0270970,Reducing-body myopathy | Reducing-body myopathy (disorder),SNOMEDCT ID:42779002,,,reducing body myopathy,MONDO:0019948,,,,,, +BMGC_DS05052,BMG_DS011276,Cornelia De Lange Syndrome,UMLS ID:C0270972,,,,,Cornelia de Lange syndrome,MONDO:0016033,De Lange Syndrome,MeSH ID:D003635,Cornelia de Lange syndrome,DOID:11725,, +BMGC_DS05053,BMG_DS011293,Siderosis of eye,UMLS ID:C0271001,Siderosis of eye | Ocular siderosis | Siderosis of eye (disorder),SNOMEDCT ID:25277000,,,ocular siderosis,MONDO:0001355,,,siderosis of eye,DOID:11754,ICD10 ID:H44.32, +BMGC_DS05054,BMG_DS011315,Macular retinal edema,UMLS ID:C0271051,Macular retinal edema | Macular oedema | Macular retinal oedema | Macular edema | Macular retinal edema (disorder),SNOMEDCT ID:37231002,,,macular retinal edema,MONDO:0003005,,,macular retinal edema,DOID:4449,, +BMGC_DS05055,BMG_DS011330,Eales disease,UMLS ID:C0271073,,,,,Eales disease,MONDO:0018460,,MeSH ID:C538011,,,ICD10 ID:H35.06, +BMGC_DS05056,BMG_DS011335,Partial occlusion of retinal vein,UMLS ID:C0271080,Partial occlusion of retinal vein | Partial occlusion of retinal vein (disorder),SNOMEDCT ID:65593009,,,partial retinal vein occlusion,MONDO:0002088,,,partial of retinal vein occlusion,DOID:1726,, +BMGC_DS05057,BMG_DS011337,,UMLS ID:C0271083,,,,,dry age related macular degeneration,MONDO:0100114,,,,,, +BMGC_DS05058,BMG_DS011338,Exudative age-related macular degeneration,UMLS ID:C0271084,Kuhnt-Junius degeneration | Disciform senile macular retinal degeneration | Exudative senile macular retinal degeneration | Junius-Kuhnt degeneration | Exudative age-related macular degeneration | Disciform macular degeneration | Wet senile macular retinal degeneration | Wet senile macular degeneration | Subretinal neovascularisation of macula | Subretinal neovascularization of macula | Kuhnt-Junius degeneration (disorder) | Exudative age-related macular degeneration (disorder) | Exudative age-related macular degeneration | Exudative senile macular retinal degeneration | Neovascular age-related macular degeneration | Wet senile macular degeneration | Subretinal neovascularization of macula | Subretinal neovascularisation of macula | EMD - Exudative macular degeneration,SNOMEDCT ID:11290001 | SNOMEDCT ID:414173003,,,,,,,Kuhnt-Junius degeneration,DOID:10873,ICD10 ID:H35.32, +BMGC_DS05059,BMG_DS011340,Toxic maculopathy,UMLS ID:C0271086,Toxic maculopathy | Toxic maculopathy (disorder),SNOMEDCT ID:193389005 | SNOMEDCT ID:44115007,,,toxic maculopathy,MONDO:0004904,,,toxic maculopathy,DOID:9867,ICD10 ID:H35.38, +BMGC_DS05060,BMG_DS011344,"Retinoschisis, Juvenile, X-Linked",UMLS ID:C0271091,,,,,,,Retinoschisis,MeSH ID:D041441,,,, +BMGC_DS05061,BMG_DS011345,Progressive cone dystrophy (without rod involvement),UMLS ID:C0271092,Progressive retinal dystrophy: [cone (without rod involvement)] or [rod] | Progressive cone dystrophy (without rod involvement) | Progressive rod dystrophy | Progressive retinal dystrophy: [cone (without rod involvement)] or [rod] (disorder) | Progressive cone dystrophy (without rod involvement) | Progressive cone dystrophy (without rod involvement) (disorder),SNOMEDCT ID:193404003 | SNOMEDCT ID:267613004,,,,,,,,,, +BMGC_DS05062,BMG_DS011346,Stargardt's disease,UMLS ID:C0271093,Stargardt's disease | Familial juvenile macular degeneration syndrome | Stargardt's disease (disorder) | Stargardt disease | Stargardt's disease | Stargardt's disease (disorder),SNOMEDCT ID:70099003 | SNOMEDCT ID:193405002 | SNOMEDCT ID:193407005,,,Stargardt disease,MONDO:0019353,,,,,ICD10 ID:H35.53, +BMGC_DS05063,BMG_DS011348,Usher Syndrome,UMLS ID:C0271097,,,,,Usher syndrome,MONDO:0019501,Usher Syndromes,MeSH ID:D052245,Usher syndrome | Usher syndrome type 2 | Usher syndrome type 3,DOID:0110827;DOID:0110828;DOID:0050439,, +BMGC_DS05064,BMG_DS011349,Disorder of ciliary body,UMLS ID:C0271100,Disorder of ciliary body | Disorder of ciliary body (disorder),SNOMEDCT ID:68575007,,,ciliary body disorder,MONDO:0002970,,,ciliary body disease,DOID:4353,, +BMGC_DS05065,BMG_DS011368,,UMLS ID:C0271130,,,,,"pupillary membrane, persistence of",MONDO:0008352,,,,,,OMIM ID:178900 +BMGC_DS05066,BMG_DS011369,Occluded Pupils,UMLS ID:C0271131,,,,,,,Pupil Disorders,MeSH ID:D011681,,,, +BMGC_DS05067,BMG_DS011377,Secondary Open Angle Glaucoma,UMLS ID:C0271148,,,,,,,"Glaucoma, Open-Angle",MeSH ID:D005902,,,, +BMGC_DS05068,BMG_DS011378,Secondary angle-closure glaucoma,UMLS ID:C0271149,Secondary angle-closure glaucoma | Secondary angle-closure glaucoma (disorder),SNOMEDCT ID:21571006,,,,,,,,,, +BMGC_DS05069,BMG_DS011381,Malignant glaucoma,UMLS ID:C0271152,Aqueous humor misdirect (disorder) | Aqueous humour misdirect | Aqueous humor misdirect | Ciliary block glaucoma | Malignant glaucoma | Malignant glaucoma | Glaucoma fulminans | Malignant glaucoma (disorder),SNOMEDCT ID:370504007 | SNOMEDCT ID:10100008,,,,,,,,,ICD10 ID:H40.83, +BMGC_DS05070,BMG_DS011383,Aphakic glaucoma,UMLS ID:C0271154,Aphakic glaucoma | Secondary glaucoma due to aphakia (disorder) | Secondary glaucoma due to aphakia,SNOMEDCT ID:15374009,,,,,,,,,,OMIM ID:MTHU002395 +BMGC_DS05071,BMG_DS011389,Incipient cataract,UMLS ID:C0271163,Incipient cataract | Water clefts | Incipient cataract (disorder),SNOMEDCT ID:52421005,,,,,,,immature cataract,DOID:10997,, +BMGC_DS05072,BMG_DS011391,,UMLS ID:C0271166,,,,,nuclear senile cataract,MONDO:0001847,,,nuclear senile cataract,DOID:13963,, +BMGC_DS05073,BMG_DS011397,Irvine-Gass Syndrome,UMLS ID:C0271178,,,,,,,Macular Edema,MeSH ID:D008269,,,, +BMGC_DS05074,BMG_DS011399,Severe myopia,UMLS ID:C0271183,Severe myopia | High myopia | Severe myopia (disorder),SNOMEDCT ID:34187009,,,,,,,,,,OMIM ID:MTHU002321 +BMGC_DS05075,BMG_DS011403,"Diplopia, Unilateral",UMLS ID:C0271190,,,,,,,Diplopia,MeSH ID:D004172,,,, +BMGC_DS05076,BMG_DS011412,"Blindness, Legal",UMLS ID:C0271215,,,,,,,Blindness,MeSH ID:D001766,,,, +BMGC_DS05077,BMG_DS011428,Oculovestibuloauditory syndrome,UMLS ID:C0271270,Cogan's syndrome | Oculovestibuloauditory syndrome | Cogan syndrome | Cogan's syndrome (disorder) | Cogan's syndrome | Oculomotor apraxia | Oculomotor apraxia - Cogan type | Oculovestibuloauditory syndrome | Cogan syndrome | Cogan's syndrome (disorder) | Cogan's syndrome (disorder) | Cogan's syndrome | Oculovestibuloauditory syndrome | Cogan syndrome,SNOMEDCT ID:231906002 | SNOMEDCT ID:26018001 | SNOMEDCT ID:405810005,,,Cogan syndrome,MONDO:0015453,,,Cogan syndrome,DOID:0060216,, +BMGC_DS05078,BMG_DS011433,Krukenberg spindle,UMLS ID:C0271278,Posterior corneal pigmentation (& [Krukenberg spindle]) | Posterior corneal pigmentation | Krukenberg spindle | Posterior corneal pigmentation (& [Krukenberg spindle]) (disorder) | Krukenberg spindle | Krukenberg spindle (finding),SNOMEDCT ID:193807000 | SNOMEDCT ID:85430004,,,,,,,,,, +BMGC_DS05079,BMG_DS011440,Schnyder crystalline corneal dystrophy,UMLS ID:C0271287,Schnyder crystalline corneal dystrophy (disorder) | Schnyder crystalline corneal dystrophy | Schnyder's crystalline corneal dystrophy,SNOMEDCT ID:420212002,,,Schnyder corneal dystrophy,MONDO:0007374,,MeSH ID:C535475,Schnyder corneal dystrophy,DOID:0060456,,OMIM ID:121800 +BMGC_DS05080,BMG_DS011459,,UMLS ID:C0271333,,,,,orbit lymphoma,MONDO:0004942,,,orbit lymphoma,DOID:9986,, +BMGC_DS05081,BMG_DS011462,Glaucomatous atrophy of optic disc,UMLS ID:C0271342,Glaucomatous atrophy of optic disc | Glaucomatous atrophy of optic disc (disorder) | Optic disc glaucomatous atrophy | Glaucomatous optic atrophy,SNOMEDCT ID:1207009,,,glaucomatous atrophy of optic disk,MONDO:0001006,,,glaucomatous atrophy of optic disc,DOID:10337,, +BMGC_DS05082,BMG_DS011471,Third cranial nerve disorder,UMLS ID:C0271353,Third cranial nerve disease | Oculomotor nerve disorder | Third cranial nerve disorder | Oculomotor nerve disease | Third cranial nerve disease (disorder),SNOMEDCT ID:60750009,,,third cranial nerve disorder,MONDO:0003546,,,third cranial nerve disease,DOID:562,, +BMGC_DS05083,BMG_DS011472,Abducens Nerve Diseases,UMLS ID:C0271355,,,,,abducens nerve disorder,MONDO:0020594,Abducens Nerve Diseases,MeSH ID:D020434,abducens nerve palsy,DOID:10865,, +BMGC_DS05084,BMG_DS011484,Partial Third-Nerve Palsy,UMLS ID:C0271370,,,,,partial third-nerve palsy,MONDO:0001144,Oculomotor Nerve Diseases,MeSH ID:D015840,partial third-nerve palsy,DOID:10864,, +BMGC_DS05085,BMG_DS011485,Total Third-Nerve Palsy,UMLS ID:C0271371,,,,,total third-nerve palsy,MONDO:0001145,Oculomotor Nerve Diseases,MeSH ID:D015840,total third-nerve palsy,DOID:10866,, +BMGC_DS05086,BMG_DS011486,Claude Syndrome,UMLS ID:C0271373,,,,,,,Brain Stem Infarctions,MeSH ID:D020526,,,, +BMGC_DS05087,BMG_DS011488,Fourth cranial nerve paresis,UMLS ID:C0271375,Fourth nerve palsy | Trochlear nerve palsy | Fourth cranial nerve paralysis | Trochlear nerve paralysis | Fourth cranial nerve paresis | Trochlear nerve weakness | IV nerve palsy | 4th nerve palsy | Superior oblique palsy | Fourth nerve palsy (disorder) | Fourth cranial nerve palsy | Fourth cranial nerve paresis | Fourth cranial nerve paresis (disorder),SNOMEDCT ID:20610004 | SNOMEDCT ID:67883005,,,fourth cranial nerve palsy,MONDO:0001146,,,trochlear nerve disease,DOID:13864,, +BMGC_DS05088,BMG_DS011491,Convergence Insufficiency,UMLS ID:C0271379,,,,,,,Ocular Motility Disorders,MeSH ID:D015835,,,, +BMGC_DS05089,BMG_DS011492,Convergence Excess,UMLS ID:C0271380,,,,,,,Ocular Motility Disorders,MeSH ID:D015835,,,, +BMGC_DS05090,BMG_DS011493,Periodic Alternating Nystagmus,UMLS ID:C0271382,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05091,BMG_DS011494,Symptomatic Nystagmus,UMLS ID:C0271383,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05092,BMG_DS011495,Spontaneous Ocular Nystagmus,UMLS ID:C0271384,,,,,spontaneous ocular nystagmus,MONDO:0001361,"Nystagmus, Pathologic",MeSH ID:D009759,spontaneous ocular nystagmus,DOID:11771,, +BMGC_DS05093,BMG_DS011496,Horizontal Nystagmus,UMLS ID:C0271385,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05094,BMG_DS011497,Vertical Nystagmus,UMLS ID:C0271386,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05095,BMG_DS011498,Rebound Nystagmus,UMLS ID:C0271387,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05096,BMG_DS011499,Pendular Nystagmus,UMLS ID:C0271388,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05097,BMG_DS011500,Jerk Nystagmus,UMLS ID:C0271389,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05098,BMG_DS011505,Paroxysmal Ocular Dyskinesia,UMLS ID:C0271396,,,,,,,Ocular Motility Disorders,MeSH ID:D015835,,,, +BMGC_DS05099,BMG_DS011521,Disorder of middle ear,UMLS ID:C0271428,Disorder of middle ear | Tubotympanic disease | Disorder of middle ear (disorder) | Disorder of middle ear | Disorder of middle ear (disorder),SNOMEDCT ID:68996008 | SNOMEDCT ID:155260002,,,middle ear disorder,MONDO:0003276,,,middle ear disease,DOID:5100,, +BMGC_DS05100,BMG_DS011522,Acute otitis media,UMLS ID:C0271429,Acute otitis media | Acute otitis media (disorder),SNOMEDCT ID:3110003,,,,,,,,,, +BMGC_DS05101,BMG_DS011525,Acute transudative otitis media,UMLS ID:C0271432,Acute transudative otitis media | Acute middle ear effusion | Acute MEE - Acute middle ear effusion | Acute transudative otitis media (disorder),SNOMEDCT ID:35183001,,,acute transudative otitis media,MONDO:0002738,,,acute transudative otitis media,DOID:3697,, +BMGC_DS05102,BMG_DS011538,Non-suppurative otitis media,UMLS ID:C0271446,Non-suppurative otitis media | Non-suppurative otitis media (disorder),SNOMEDCT ID:275481002,,,non-suppurative otitis media,MONDO:0001212,,,non-suppurative otitis media,DOID:11180,, +BMGC_DS05103,BMG_DS011544,Chronic purulent otitis media,UMLS ID:C0271454,"Chronic purulent otitis media | Chronic suppurative otitis media | Chronic otitis media with effusion, purulent | CSOM - Chronic suppurative otitis media | Chronic secretory otitis media, purulent | Otitis media with effusion - purulent | Chronic otitis media with perforation | Chronic purulent otitis media (disorder)",SNOMEDCT ID:38394007,,,chronic purulent otitis media,MONDO:0001920,,,chronic purulent otitis media,DOID:14247,, +BMGC_DS05104,BMG_DS011551,,UMLS ID:C0271466,,,,,polyp of middle ear,MONDO:0004223,,,polyp of middle ear,DOID:7439,, +BMGC_DS05105,BMG_DS011611,Necrosis of pituitary,UMLS ID:C0271558,Necrosis of pituitary | Necrosis of pituitary (disorder),SNOMEDCT ID:59572000,,,necrosis of pituitary,MONDO:0002721,,,necrosis of pituitary,DOID:3646,, +BMGC_DS05106,BMG_DS011614,Somatotropin deficiency,UMLS ID:C0271561,Somatotropin deficiency | STH deficiency | GHD | Growth hormone deficiency | Somatotropin deficiency (disorder),SNOMEDCT ID:44008002,,,,,,,,,, +BMGC_DS05107,BMG_DS011618,"Isolated Growth Hormone Deficiency, Type II",UMLS ID:C0271567,,,,,isolated growth hormone deficiency type II,MONDO:0008250,,MeSH ID:C562704,isolated growth hormone deficiency type II,DOID:0060872,,OMIM ID:173100 +BMGC_DS05108,BMG_DS011619,Laron Syndrome,UMLS ID:C0271568,,,,,Laron syndrome,MONDO:0009877,Laron Syndrome,MeSH ID:D046150,Laron syndrome,DOID:9521,,OMIM ID:262500 +BMGC_DS05109,BMG_DS011624,"Empty Sella Syndrome, Primary",UMLS ID:C0271574,,,,,,,Empty Sella Syndrome,MeSH ID:D004652,,,, +BMGC_DS05110,BMG_DS011625,Pituitary Dwarfism with Large Sella Turcica,UMLS ID:C0271575,,,,,pituitary dwarfism with large sella turcica,MONDO:0009881,,MeSH ID:C562705,,,,OMIM ID:262710 +BMGC_DS05111,BMG_DS011627,Isolated gonadotropin deficiency,UMLS ID:C0271577,Isolated gonadotropin deficiency | Isolated gonadotrophin deficiency | Isolated gonadotropin deficiency (disorder),SNOMEDCT ID:10340008,,,,,,,,,, +BMGC_DS05112,BMG_DS011628,Female hypogonadism syndrome,UMLS ID:C0271578,Female hypogonadism syndrome | Female hypogonadism | Female hypogonadism syndrome (disorder),SNOMEDCT ID:16041008,,,,,,,,,, +BMGC_DS05113,BMG_DS011631,Isolated lutropin deficiency (disorder),UMLS ID:C0271582,Isolated lutropin deficiency | Fertile eunuch syndrome | Fertile eunuch | Isolated lutropin deficiency (disorder),SNOMEDCT ID:8829008,,,hypogonadotropic hypogonadism 23 with or without anosmia,MONDO:0009223,,,,,,OMIM ID:228300 +BMGC_DS05114,BMG_DS011632,"ACTH Deficiency, Isolated",UMLS ID:C0271583,,,,,,,,MeSH ID:C562707,,,, +BMGC_DS05115,BMG_DS011634,,UMLS ID:C0271586,,,,,"prolactin deficiency, isolated",MONDO:0009911,,,,,,OMIM ID:264110 +BMGC_DS05116,BMG_DS011655,Precocious female puberty,UMLS ID:C0271616,Precocious female puberty | Precocious female puberty (disorder),SNOMEDCT ID:19911007,,,precocious puberty in female,MONDO:0018561,,,,,, +BMGC_DS05117,BMG_DS011659,Hypogonadotropic hypogonadism,UMLS ID:C0271623,Hypogonadotropic hypogonadism | Secondary hypogonadism | Gonadotrophin deficiency | Hypogonadotropic hypogonadism (disorder),SNOMEDCT ID:33927004,Hypopituitarism,ICD11 ID:5A61.0,hypogonadotropic hypogonadism,MONDO:0018555,,,hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IB | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type III | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090072;DOID:0090087;DOID:0060875;DOID:0090073;DOID:0090076;DOID:0090092;DOID:0060873;DOID:0090080;DOID:0090075;DOID:0090077;DOID:0090071;DOID:0090082;DOID:0090084;DOID:0090074;DOID:0090093;DOID:0060874;DOID:0090078;DOID:0090070;DOID:0090085;DOID:0090094;DOID:0090086;DOID:0090083;DOID:0090081;DOID:0090079;DOID:0090089;DOID:0090090,ICD10 ID:E23.0,OMIM ID:MTHU004823 +BMGC_DS05118,BMG_DS011672,Type 2 diabetes mellitus in obese,UMLS ID:C0271638,Diabetes mellitus type 2 in obese | Diabetes mellitus type 2 in obese (disorder) | Type 2 diabetes mellitus in obese,SNOMEDCT ID:81531005,,,,,,,,,, +BMGC_DS05119,BMG_DS011680,Impaired glucose tolerance (disorder),UMLS ID:C0271650,Impaired glucose tolerance | Impaired glucose tolerance (disorder) | Impaired glucose tolerance | Prediabetic nonclinical diabetes | Latent diabetes | Chemical diabetes | IGT - Impaired glucose tolerance | Impaired glucose tolerance (disorder),SNOMEDCT ID:154720005 | SNOMEDCT ID:9414007,,,glucose intolerance,MONDO:0001076,,,glucose intolerance,DOID:10603,, +BMGC_DS05120,BMG_DS011700,Symmetric Diabetic Proximal Motor Neuropathy,UMLS ID:C0271673,,,,,,,Diabetic Neuropathies,MeSH ID:D003929,,,, +BMGC_DS05121,BMG_DS011701,Asymmetric Diabetic Proximal Motor Neuropathy,UMLS ID:C0271674,,,,,,,Diabetic Neuropathies,MeSH ID:D003929,,,, +BMGC_DS05122,BMG_DS011703,"Polyradiculopathy, Abdominal",UMLS ID:C0271676,,,,,,,Polyradiculopathy,MeSH ID:D011128,,,, +BMGC_DS05123,BMG_DS011704,Diabetic Mononeuropathy,UMLS ID:C0271678,,,,,,,Diabetic Neuropathies,MeSH ID:D003929,,,, +BMGC_DS05124,BMG_DS011706,Diabetic Polyneuropathies,UMLS ID:C0271680,,,,,diabetic polyneuropathy,MONDO:0001583,Diabetic Neuropathies,MeSH ID:D003929,diabetic polyneuropathy,DOID:12785,, +BMGC_DS05125,BMG_DS011709,"Polyneuropathy, Motor",UMLS ID:C0271683,,,,,motor peripheral neuropathy,MONDO:0002316,Polyneuropathies,MeSH ID:D011115,,,, +BMGC_DS05126,BMG_DS011711,Diabetic Amyotrophy,UMLS ID:C0271685,,,,,,,Diabetic Neuropathies,MeSH ID:D003929,,,, +BMGC_DS05127,BMG_DS011712,Diabetic Autonomic Neuropathy,UMLS ID:C0271686,,,,,diabetic autonomic neuropathy,MONDO:0001299,Diabetic Neuropathies,MeSH ID:D003929,diabetic autonomic neuropathy,DOID:11503,, +BMGC_DS05128,BMG_DS011719,Acquired generalized lipodystrophy,UMLS ID:C0271693,Acquired generalized lipodystrophy | Acquired lipodystrophic diabetes | Lawrence syndrome | Acquired generalised lipodystrophy | Acquired generalized lipodystrophy (disorder) | Acquired total lipoatrophy,SNOMEDCT ID:86907008,,,acquired generalized lipodystrophy,MONDO:0019193,,,,,, +BMGC_DS05129,BMG_DS011720,Familial partial lipodystrophy,UMLS ID:C0271694,Familial lipodystrophy of limbs AND/OR trunk | Familial partial lipodystrophy | Familial partial lipodystrophy (disorder),SNOMEDCT ID:49292002,,,familial partial lipodystrophy,MONDO:0020088,,,familial partial lipodystrophy,DOID:0050440,, +BMGC_DS05130,BMG_DS011721,Rabson-Mendenhall Syndrome,UMLS ID:C0271695,,,,,Rabson-Mendenhall syndrome,MONDO:0009874,Donohue Syndrome,MeSH ID:D056731,Donohue syndrome,DOID:0050470,,OMIM ID:262190 +BMGC_DS05131,BMG_DS011731,Fasting Hypoglycemia,UMLS ID:C0271708,,,,,,,Hypoglycemia,MeSH ID:D007003,,,, +BMGC_DS05132,BMG_DS011737,"Hypoglycemia, leucine-induced",UMLS ID:C0271714,,,,,"hypoglycemia, leucine-induced",MONDO:0009415,,MeSH ID:C537150,,,,OMIM ID:240800 | OMIM ID:MTHU041972 +BMGC_DS05133,BMG_DS011759,Glucocorticoid deficiency with achalasia,UMLS ID:C0271742,Glucocorticoid deficiency with achalasia | Achalasia-addisonian syndrome | Allgrove syndrome | Triple A syndrome | Alacrimia-achalasia-addisonianism | Glucocorticoid deficiency with achalasia (disorder),SNOMEDCT ID:45414006,,,triple-A syndrome,MONDO:0009279,,,,,,OMIM ID:231550 +BMGC_DS05134,BMG_DS011773,Lingual Goiter,UMLS ID:C0271760,,,,,lingual goiter,MONDO:0006833,Lingual Goiter,MeSH ID:D047268,lingual goiter,DOID:13196,, +BMGC_DS05135,BMG_DS011793,,UMLS ID:C0271789,,,,,isolated thyroid-stimulating hormone deficiency,MONDO:0010139,,,,,,OMIM ID:275100 +BMGC_DS05136,BMG_DS011804,Central hypothyroidism,UMLS ID:C0271801,Central hypothyroidism | Central hypothyroidism (disorder),SNOMEDCT ID:26692000,,,,,,,,,,OMIM ID:MTHU047873 +BMGC_DS05137,BMG_DS011827,Pendred's syndrome,UMLS ID:C0271829,Pendred's syndrome | Hypothyroidism with sensorineural deafness | Thyroid hormone organification defect II B | Goiter-deafness syndrome | Genetic defect in thyroid hormonogenesis II B | GDTH IIB | Goitre-deafness syndrome | Pendred's syndrome (disorder) | Pendred syndrome,SNOMEDCT ID:70348004,Permanent congenital hypothyroidism with diffuse goitre,ICD11 ID:5A00.00,Pendred syndrome,MONDO:0010134,,,Pendred Syndrome,DOID:0060744,ICD10 ID:E07.1,OMIM ID:274600 +BMGC_DS05138,BMG_DS011831,X-linked reduction of thyroxine-binding globulin,UMLS ID:C0271836,X-linked reduction of thyroxine-binding globulin | X-linked reduction of thyroxine-binding globulin (disorder),SNOMEDCT ID:41300001,,,,,,,,,, +BMGC_DS05139,BMG_DS011841,Familial hyperparathyroidism,UMLS ID:C0271846,Familial hyperparathyroidism | Familial hyperparathyroidism (disorder) | Familial hyperparathyroidism | Familial primary hyperparathyroidism | Familial primary hyperparathyroidism (disorder),SNOMEDCT ID:54920000 | SNOMEDCT ID:237653008,,,familial primary hyperparathyroidism,MONDO:0016365,,,primary hyperparathyroidism,DOID:11202,, +BMGC_DS05140,BMG_DS011842,Hyperparathyroidism due to renal insufficiency,UMLS ID:C0271847,Hyperparathyroidism due to renal insufficiency | Hyperparathyroidism due to renal insufficiency (disorder) | Secondary hyperparathyroidism of renal origin,SNOMEDCT ID:19034001,,,secondary hyperparathyroidism of renal origin,MONDO:0001530,,,secondary hyperparathyroidism of renal origin,DOID:12465,, +BMGC_DS05141,BMG_DS011847,Hypercalcemia due to hyperthyroidism,UMLS ID:C0271852,Hypercalcemia due to hyperthyroidism | Hypercalcaemia due to hyperthyroidism | Hypercalcemia due to hyperthyroidism (disorder),SNOMEDCT ID:2243000,,,,,,,,,, +BMGC_DS05142,BMG_DS011873,Hypothalamic Pseudopuberty,UMLS ID:C0271886,,,,,,,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS05143,BMG_DS011885,Microcytic normochromic anemia,UMLS ID:C0271902,Microcytic normochromic anemia | Microcytic normochromic anaemia | Microcytic normochromic anemia (disorder),SNOMEDCT ID:4984008,,,,,,,,,, +BMGC_DS05144,BMG_DS011892,Aplastic anemia due to drugs,UMLS ID:C0271909,Aplastic anemia due to drugs | Hypoplastic anemia due to drug or chemical substance | Hypoplastic anaemia due to drug or chemical substance | Aplastic anaemia due to drugs | Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] | Anemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] | Anaemia: [aplastic due to drugs] or [hypoplastic due to drug or chemical substance] (disorder) | Aplastic anemia due to drugs | Aplastic anaemia due to drugs | Aplastic anemia due to drugs (disorder) | Drug induced aplastic anemia | Drug induced aplastic anaemia,SNOMEDCT ID:191245002 | SNOMEDCT ID:267527002,,,,,,,,,, +BMGC_DS05145,BMG_DS011914,Anemia of chronic renal failure,UMLS ID:C0271932,Anemia of chronic renal failure | Anaemia of chronic renal failure | Anemia of chronic renal failure (disorder) | Anemia of chronic renal insufficiency | Anaemia of chronic renal insufficiency,SNOMEDCT ID:49708008,,,,,,,,,, +BMGC_DS05146,BMG_DS011915,"Congenital dyserythropoietic anemia, type I",UMLS ID:C0271933,"Congenital dyserythropoietic anemia, type I | Congenital dyserythropoietic anaemia, type I | Congenital dyserythropoietic anemia, type I (disorder) | Congenital dyserythropoietic anaemia type I | Congenital dyserythropoietic anemia type I",SNOMEDCT ID:59548005,,,congenital dyserythropoietic anemia type 1,MONDO:0020337,,,congenital dyserythropoietic anemia type Ib,DOID:0111397,, +BMGC_DS05147,BMG_DS011916,"Congenital dyserythropoietic anemia, type III",UMLS ID:C0271934,"Congenital dyserythropoietic anemia, type III | Congenital dyserythropoietic anaemia, type III | Congenital dyserythropoietic anemia, type III (disorder) | Congenital dyserythropoietic anaemia type III | Congenital dyserythropoietic anemia type III",SNOMEDCT ID:26409005,,,,,,,congenital dyserythropoietic anemia type IIIa,DOID:0111399,, +BMGC_DS05148,BMG_DS011950,Thiamine-responsive megaloblastic anemia,UMLS ID:C0271972,Thiamine-responsive megaloblastic anemia | Thiamine-responsive megaloblastic anaemia | Thiamine-responsive megaloblastic anemia (disorder),SNOMEDCT ID:12907000,,,,,,,,,, +BMGC_DS05149,BMG_DS011955,Thalassemia Intermedia,UMLS ID:C0271979,,,,,,,beta-Thalassemia,MeSH ID:D017086,,,, +BMGC_DS05150,BMG_DS011956,Beta zero thalassemia,UMLS ID:C0271980,Beta 0 thalassemia | Beta 0 thalassaemia | Beta zero thalassemia | Beta zero thalassaemia | Beta zero thalassemia (disorder) | beta zero thalassemia | beta zero thalassaemia,SNOMEDCT ID:86715000,,,,,,,,,, +BMGC_DS05151,BMG_DS011961,Delta-Beta Thalassemia,UMLS ID:C0271985,,,,,delta-beta-thalassemia,MONDO:0016489,,MeSH ID:C562716,,,, +BMGC_DS05152,BMG_DS011966,delta-Thalassemia,UMLS ID:C0271990,,,,,,,delta-Thalassemia,MeSH ID:D055538,,,, +BMGC_DS05153,BMG_DS011967,Delta zero thalassemia,UMLS ID:C0271991,Delta zero thalassemia (disorder) | Delta zero thalassaemia | Delta 0 thalassaemia | Delta 0 thalassemia | Delta zero thalassemia,SNOMEDCT ID:62074008,,,,,,,,,, +BMGC_DS05154,BMG_DS011970,Hereditary persistence of fetal hemoglobin thalassemia,UMLS ID:C0271994,Hereditary persistence of fetal hemoglobin thalassemia | Hereditary persistence of fetal haemoglobin thalassaemia | Hereditary persistence of fetal hemoglobin thalassemia (disorder) | Hereditary persistence of foetal haemoglobin thalassaemia | HPFH (hereditary persistence of fetal haemoglobin) beta-thalassaemia syndrome | HPFH (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome,SNOMEDCT ID:16964007,,,hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,MONDO:0018749,,,,,, +BMGC_DS05155,BMG_DS011981,Hemoglobin Bart's hydrops syndrome,UMLS ID:C0272005,Hemoglobin Bart's hydrops syndrome | Hemoglobin Bart's disease | Alpha thalassemia major | Hemoglobin Barts hydrops | Haemoglobin Bart's hydrops syndrome | Alpha thalassaemia major | Haemoglobin Bart's disease | Haemoglobin Barts hydrops | Hemoglobin Bart's hydrops syndrome (disorder) | Haemoglobin Bart hydrops syndrome | Hemoglobin Bart hydrops syndrome,SNOMEDCT ID:5300004,,,Hb Bart's hydrops fetalis,MONDO:0015579,,,,,, +BMGC_DS05156,BMG_DS012021,Xerocytosis,UMLS ID:C0272051,Xerocytosis | Dessicocytosis | Xerocytosis (disorder),SNOMEDCT ID:87994004,,,dehydrated hereditary stomatocytosis,MONDO:0017910,,,dehydrated hereditary stomatocytosis,DOID:0111575,, +BMGC_DS05157,BMG_DS012022,Rh Deficiency Syndrome,UMLS ID:C0272052,,,,,Rh deficiency syndrome,MONDO:0019107,,MeSH ID:C562717,Rh deficiency syndrome,DOID:0050641,,OMIM ID:268150 +BMGC_DS05158,BMG_DS012023,Anemia due to enzyme deficiency,UMLS ID:C0272053,Anemia due to enzyme deficiency | Anaemia due to enzyme deficiency | Anemia due to enzyme deficiency (disorder),SNOMEDCT ID:111577008,,,,,,,,,, +BMGC_DS05159,BMG_DS012025,G-6-PD class I variant anemia,UMLS ID:C0272056,G-6-PD class I variant anemia | G-6-PD class I variant anaemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia | Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder) | Glucose-6-phosphate dehydrogenase deficiency class I variant anaemia,SNOMEDCT ID:22933009,,,,,,,,,, +BMGC_DS05160,BMG_DS012033,HNSHA due to glucose phosphate isomerase deficiency,UMLS ID:C0272064,HNSHA due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) | Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency | Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency,SNOMEDCT ID:52413004,,,,,,,,,, +BMGC_DS05161,BMG_DS012035,Glycogen Storage Disease XII,UMLS ID:C0272066,,,,,glycogen storage disease due to aldolase A deficiency,MONDO:0012747,,MeSH ID:C562718,,,,OMIM ID:611881 +BMGC_DS05162,BMG_DS012038,HNSHA due to diphosphoglycerate mutase deficiency,UMLS ID:C0272069,HNSHA due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency | Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) | Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency,SNOMEDCT ID:62268000,,,,,,,,,, +BMGC_DS05163,BMG_DS012048,Hemoglobin D disease,UMLS ID:C0272080,Hemoglobin D disease | Hemoglobin D-D disease | Haemoglobin D disease | Haemoglobin D-D disease | Hemoglobin D disease (disorder),SNOMEDCT ID:66729008,,,hemoglobin D disease,MONDO:0019537,,,hemoglobin D disease,DOID:5378,, +BMGC_DS05164,BMG_DS012052,,UMLS ID:C0272084,,,,,sickle cell-hemoglobin d disease syndrome,MONDO:0016670,,,,,, +BMGC_DS05165,BMG_DS012054,Congenital Methemoglobinemia,UMLS ID:C0272087,,,,,hereditary methemoglobinemia,MONDO:0018963,,MeSH ID:C580280,,,, +BMGC_DS05166,BMG_DS012092,Evans syndrome,UMLS ID:C0272126,Evans syndrome | Evans syndrome (disorder),SNOMEDCT ID:75331009,,,Evans syndrome,MONDO:0016030,,,Evans' syndrome,DOID:8931,ICD10 ID:D69.41, +BMGC_DS05167,BMG_DS012103,Tn Syndrome,UMLS ID:C0272137,,,,,Tn polyagglutination syndrome,MONDO:0010381,,MeSH ID:C562719,,,,OMIM ID:300622 +BMGC_DS05168,BMG_DS012110,Erythrocytosis due to tissue hypoxemia,UMLS ID:C0272144,Erythrocytosis due to tissue hypoxemia | Erythrocytosis due to tissue hypoxaemia | Erythrocytosis due to tissue hypoxemia (disorder),SNOMEDCT ID:19588001,,,,,,,,,, +BMGC_DS05169,BMG_DS012118,Neonatal polycythemia,UMLS ID:C0272153,Neonatal polycythemia | Polycythemia neonatorum | Plethora of newborn | Neonatal polycythaemia | Polycythaemia neonatorum | Neonatal polycythemia (disorder),SNOMEDCT ID:32984002,,,polycythemia neonatorum,MONDO:0001238,,,plethora of newborn,DOID:11242,, +BMGC_DS05170,BMG_DS012129,Reticular dysgenesis,UMLS ID:C0272167,"Reticular dysgenesis | De Vaal disease | Immunoerythromyeloid hypoplasia | Severe combined immunodeficiency, neutropaenia and thrombocytopaenia | SCID - Severe combined immunodeficiency, neutropaenia and thrombocytopaenia | Congenital aleukia | Reticular dysgenesia | Generalised haematopoietic hypoplasia | Generalized hematopoietic hypoplasia | Reticular dysgenesis (disorder) | SCID - Severe combined immunodeficiency, neutropenia and thrombocytopenia | Severe combined immunodeficiency, neutropenia and thrombocytopenia",SNOMEDCT ID:111584000,,,reticular dysgenesis,MONDO:0009973,,MeSH ID:C538361,reticular dysgenesis,DOID:0060020,,OMIM ID:267500 +BMGC_DS05171,BMG_DS012132,Shwachman syndrome,UMLS ID:C0272170,"Shwachman syndrome | Shwachman-Diamond syndrome | Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia | Metaphyseal dysplasia with malabsorption and neutropenia | Metaphyseal chondrodysplasia, Shwachman type | Schwachman's syndrome | Schwachman-Diamond syndrome | Schwachman-Bodian syndrome | Shwachman's syndrome | Congenital lipomatosis of pancreas | Schwachmann-Diamond syndrome | Shwachman syndrome (disorder)",SNOMEDCT ID:89454001,,,Shwachman-Diamond syndrome,MONDO:0009833,,,,,, +BMGC_DS05172,BMG_DS012136,Lazy Leukocyte Syndrome,UMLS ID:C0272174,,,,,"periodic fever, immunodeficiency, and thrombocytopenia syndrome",MONDO:0007883,,MeSH ID:C562721,,,,OMIM ID:150550 +BMGC_DS05173,BMG_DS012138,Alloimmune neonatal neutropenia,UMLS ID:C0272176,Alloimmune neonatal neutropenia | Isoimmune neonatal neutropenia | Neonatal isoimmune neutropenia | Alloimmune neonatal neutropenia (disorder),SNOMEDCT ID:14333004,,,neonatal alloimmune neutropenia,MONDO:0018739,,,,,, +BMGC_DS05174,BMG_DS012140,Drug-induced neutropenia,UMLS ID:C0272178,Drug-induced neutropenia | Idiosyncratic neutropenia | Drug-induced neutropenia (disorder) | Drug-associated agranulocytosis | Drug induced neutropenia,SNOMEDCT ID:47318007,,,,,,,,,, +BMGC_DS05175,BMG_DS012147,Congenital leukocyte adherence deficiency,UMLS ID:C0272187,Congenital leukocyte adherence deficiency | Leukocyte adhesion deficiency | Congenital leucocyte adherence deficiency | Leucocyte adhesion deficiency | Congenital leukocyte adherence deficiency (disorder),SNOMEDCT ID:77358003,,,leukocyte adhesion deficiency,MONDO:0017570,,,,,, +BMGC_DS05176,BMG_DS012151,Familial eosinophilia,UMLS ID:C0272192,Familial eosinophilia | Familial eosinophilia (disorder),SNOMEDCT ID:79336007,,,"eosinophilia, familial",MONDO:0007544,,MeSH ID:C562722,,,ICD10 ID:D72.19,OMIM ID:131400 +BMGC_DS05177,BMG_DS012158,Familial Hemophagocytic Lymphocytosis,UMLS ID:C0272199,,,,,hereditary hemophagocytic lymphohistiocytosis,MONDO:0015541,"Lymphohistiocytosis, Hemophagocytic",MeSH ID:D051359,,,, +BMGC_DS05178,BMG_DS012160,,UMLS ID:C0272202,,,,,extracutaneous mastocytoma,MONDO:0019025,,,extracutaneous mastocytoma,DOID:4659,, +BMGC_DS05179,BMG_DS012161,,UMLS ID:C0272203,,,,,indolent systemic mastocytosis,MONDO:0020331,,,indolent systemic mastocytosis,DOID:4660,, +BMGC_DS05180,BMG_DS012184,SCID (severe combined immunodeficiency) due to absent adenosine deaminase,UMLS ID:C0272230,Severe combined immunodeficiency due to absent adenosine deaminase | Severe combined immunodeficiency due to absent adenosine deaminase (disorder) | SCID (severe combined immunodeficiency) due to absent ADA (adenosine deaminase) | SCID (severe combined immunodeficiency) due to absent adenosine deaminase,SNOMEDCT ID:36980009,,,,,,,,,, +BMGC_DS05181,BMG_DS012189,Hyperimmunoglobulin M syndrome,UMLS ID:C0272236,Hyperimmunoglobulin M syndrome | Hyperimmunoglobulin M syndrome (disorder) | Immunodeficiency with IgM hypergammaglobulinaemia | Immunodeficiency with IgM hypergammaglobulinemia | Hyper IgM syndrome,SNOMEDCT ID:82286005,,,hyper-IgM syndrome,MONDO:0003947,,,hyper IgM syndrome,DOID:0080544,, +BMGC_DS05182,BMG_DS012190,Transient hypogammaglobulinemia of infancy,UMLS ID:C0272238,Transient hypogammaglobulinemia of infancy | Immunoglobulin maturational delay | THI - Transient hypogammaglobulinemia of infancy | Transient hypogammaglobulinaemia of infancy | THI - Transient hypogammaglobulinaemia of infancy | Transient hypogammaglobulinemia of infancy (disorder),SNOMEDCT ID:88714009,Transient hypogammaglobulinaemia of infancy,ICD11 ID:4A01.03,transient hypogammaglobulinemia of infancy,MONDO:0015698,,,transient hypogammaglobulinemia of infancy,DOID:624,ICD10 ID:D80.7, +BMGC_DS05183,BMG_DS012193,Complement Deficiencies,UMLS ID:C0272242,,,,,complement deficiency,MONDO:0003832,Hereditary Complement Deficiency Diseases,MeSH ID:D000081208,complement deficiency,DOID:626,, +BMGC_DS05184,BMG_DS012204,,UMLS ID:C0272256,,,,,solitary osseous plasmacytoma,MONDO:0002755,,,solitary osseous plasmacytoma,DOID:3722,, +BMGC_DS05185,BMG_DS012231,Heparin-induced thrombocytopenia,UMLS ID:C0272285,Heparin-induced thrombocytopenia | Heparin-induced thrombocytopenia (disorder) | Heparin induced thrombocytopaenia | Heparin induced thrombocytopenia,SNOMEDCT ID:73397007,,,heparin-induced thrombocytopenia,MONDO:0018048,,,,,, +BMGC_DS05186,BMG_DS012232,Thrombocytopenia due to platelet alloimmunization,UMLS ID:C0272286,Thrombocytopenia due to immune destruction | Immune thrombocytopenia | Immune thrombocytopenia (disorder) | ITP - immune thrombocytopenia,SNOMEDCT ID:2897005,,,thrombocytopenia due to immune destruction,MONDO:0002048,,,thrombocytopenia due to platelet alloimmunization,DOID:1587,, +BMGC_DS05187,BMG_DS012237,Chronic idiopathic thrombocytopenic purpura,UMLS ID:C0272293,Chronic idiopathic thrombocytopenic purpura | Werlhof's disease | Purpura hemorrhagica | Chronic thrombocytopenic purpura | Autoimmune thrombocytopenic purpura | Purpura haemorrhagica | Chronic idiopathic thrombocytopenic purpura (disorder),SNOMEDCT ID:13172003,,,,,,,,,, +BMGC_DS05188,BMG_DS012245,Gray Platelet Syndrome,UMLS ID:C0272302,,,,,gray platelet syndrome,MONDO:0007686,Gray Platelet Syndrome,MeSH ID:D055652,gray platelet syndrome | platelet-type bleeding disorder 17,DOID:0111049;DOID:0111044,,OMIM ID:139090 +BMGC_DS05189,BMG_DS012256,Coagulation factor deficiency syndrome,UMLS ID:C0272315,Coagulation factor deficiency syndrome | Coagulation factor disorder | Blood clotting factor deficiency disorder | Coagulation factor deficiency syndrome (disorder),SNOMEDCT ID:86075001,,,,,,,,,, +BMGC_DS05190,BMG_DS012258,Hereditary factor II deficiency disease,UMLS ID:C0272317,Hereditary factor II deficiency disease | Hereditary hypoprothrombinemia | Hereditary hypoprothrombinaemia | Hereditary factor II deficiency disease (disorder),SNOMEDCT ID:33297000,,,congenital prothrombin deficiency,MONDO:0013361,,,prothrombin deficiency,DOID:2235,,OMIM ID:613679 +BMGC_DS05191,BMG_DS012261,Hereditary factor VII deficiency disease,UMLS ID:C0272320,Hereditary factor VII deficiency syndrome | Hereditary hypoproconvertinemia | Hereditary hypoproconvertinaemia | Hereditary factor VII deficiency disease (disorder) | Hereditary factor VII deficiency disease,SNOMEDCT ID:40855001,,,congenital factor VII deficiency,MONDO:0009211,,,,,,OMIM ID:227500 +BMGC_DS05192,BMG_DS012263,Severe hereditary factor VIII deficiency disease,UMLS ID:C0272322,Severe hemophilia A | Severe haemophilia A | Severe hereditary factor VIII deficiency disease (disorder) | Severe hereditary factor VIII deficiency disease,SNOMEDCT ID:16872008,,,severe hemophilia A,MONDO:0015719,,,,,, +BMGC_DS05193,BMG_DS012264,Moderate hereditary factor VIII deficiency disease,UMLS ID:C0272323,Moderate hemophilia A | Moderate haemophilia A | Moderate hereditary factor VIII deficiency disease (disorder) | Moderate hereditary factor VIII deficiency disease,SNOMEDCT ID:33344008,,,moderately severe hemophilia A,MONDO:0015720,,,,,, +BMGC_DS05194,BMG_DS012265,Mild hereditary factor VIII deficiency disease,UMLS ID:C0272324,Mild hemophilia A | Mild haemophilia A | Mild hereditary factor VIII deficiency disease (disorder) | Mild hereditary factor VIII deficiency disease,SNOMEDCT ID:26029002,,,mild hemophilia A,MONDO:0015721,,,,,, +BMGC_DS05195,BMG_DS012266,"Factor 8 deficiency, acquired",UMLS ID:C0272325,,,,,acquired hemophilia A,MONDO:0035735,,MeSH ID:C536392,,,, +BMGC_DS05196,BMG_DS012267,Hereditary factor X deficiency disease,UMLS ID:C0272327,Hereditary factor X deficiency disease | Hereditary Stuart factor deficiency disease | Hereditary Stuart-Prower deficiency disease | Hereditary factor X deficiency disease (disorder),SNOMEDCT ID:37350004,,,congenital factor X deficiency,MONDO:0009212,,,,,,OMIM ID:227600 +BMGC_DS05197,BMG_DS012276,Prekallikrein deficiency,UMLS ID:C0272339,Prekallikrein deficiency | Fletcher factor deficiency | Prekallikrein deficiency (disorder) | Fletcher trait,SNOMEDCT ID:48976006,,,prekallikrein deficiency,MONDO:0044744,,,,,,OMIM ID:MTHU050385 +BMGC_DS05198,BMG_DS012277,High molecular weight kininogen deficiency,UMLS ID:C0272340,High molecular weight kininogen deficiency | Fitzgerald factor deficiency | High molecular weight kininogen deficiency (disorder) | Fitzgerald-Flaujeac-Williams-Reid trait,SNOMEDCT ID:27312002,,,congenital high-molecular-weight kininogen deficiency,MONDO:0009234,,MeSH ID:C537060,high molecular weight kininogen deficiency,DOID:0111676,,OMIM ID:228960 +BMGC_DS05199,BMG_DS012286,"Dysfibrinogenemia, Congenital",UMLS ID:C0272350,,,,,familial dysfibrinogenemia,MONDO:0014452,,MeSH ID:C562727,,,,OMIM ID:616004 +BMGC_DS05200,BMG_DS012294,Acquired von Willebrand disease,UMLS ID:C0272362,Acquired von Willebrand disease | Acquired von Willebrand syndrome | Acquired von Willebrand syndrome (disorder) | Acquired von Willebrand's disease | Acquired von Willebrand syndrome | Acquired von Willebrand disease | Acquired von Willebrand disease (disorder),SNOMEDCT ID:60078000 | SNOMEDCT ID:234451005,,,acquired von willebrand syndrome,MONDO:0020460,,,acquired von Willebrand syndrome,DOID:0111146,ICD10 ID:D68.04, +BMGC_DS05201,BMG_DS012303,Drug-induced coagulation inhibitor disorder,UMLS ID:C0272373,Drug-induced coagulation inhibitor disorder | Drug-induced coagulation inhibitor disorder (disorder),SNOMEDCT ID:16773005,,,,,,,,,, +BMGC_DS05202,BMG_DS012305,Antithrombin III Deficiency,UMLS ID:C0272375,,,,,hereditary antithrombin deficiency,MONDO:0013144,Antithrombin III Deficiency,MeSH ID:D020152,antithrombin III deficiency,DOID:3755,,OMIM ID:613118 +BMGC_DS05203,BMG_DS012318,Disorder of lymph node,UMLS ID:C0272394,Disorder of lymph node | Disorder of lymph node (disorder),SNOMEDCT ID:76616003,,,lymph node disorder,MONDO:0004928,,,lymph node disease,DOID:9942,, +BMGC_DS05204,BMG_DS012329,Nontraumatic splenic rupture,UMLS ID:C0272409,Nontraumatic splenic rupture | Nontraumatic splenic rupture (disorder) | Non-traumatic rupture of spleen | Spontaneous rupture of spleen,SNOMEDCT ID:43325004,,,,,,,,,, +BMGC_DS05205,BMG_DS012332,Splenic abscess,UMLS ID:C0272412,Splenic abscess | Splenic abscess (disorder) | Abscess of spleen | Spleen abscess,SNOMEDCT ID:82053000,,,splenic abscess,MONDO:0002333,,,splenic abscess,DOID:2530,, +BMGC_DS05206,BMG_DS012428,Acute infectious disease,UMLS ID:C0275518,Acute infectious disease | Acute infection | Acute infectious disease (disorder),SNOMEDCT ID:63171007,,,,,,,,,, +BMGC_DS05207,BMG_DS012449,Acute bacterial peritonitis,UMLS ID:C0275550,Acute bacterial peritonitis | Acute bacterial peritonitis (disorder),SNOMEDCT ID:31860008,,,,,,,,,, +BMGC_DS05208,BMG_DS012454,Acute bacterial epiglottitis,UMLS ID:C0275555,Acute bacterial epiglottitis | Acute bacterial epiglottitis (disorder),SNOMEDCT ID:21060003,,,,,,,,,, +BMGC_DS05209,BMG_DS012455,Acute bacterial sinusitis,UMLS ID:C0275556,Acute bacterial sinusitis | Acute bacterial sinusitis (disorder),SNOMEDCT ID:75498004,,,,,,,,,, +BMGC_DS05210,BMG_DS012458,Pulmonary actinomycosis,UMLS ID:C0275566,Pulmonary actinomycosis | Thoracic actinomycosis | Pulmonary actinomycosis (disorder),SNOMEDCT ID:21846001,Pulmonary actinomycosis,ICD11 ID:1C10.0,,,,,,,ICD10 ID:A42.0, +BMGC_DS05211,BMG_DS012468,Nocardia asteroides Infection,UMLS ID:C0275578,,,,,,,Nocardia Infections,MeSH ID:D009617,,,, +BMGC_DS05212,BMG_DS012471,Pulmonary Nocardiosis,UMLS ID:C0275583,,,,,,,Nocardia Infections,MeSH ID:D009617,,,, +BMGC_DS05213,BMG_DS012522,Acute gonococcal urethritis,UMLS ID:C0275652,Acute gonococcal urethritis | Acute inflammation of urethra caused by Neisseria gonorrhoeae (disorder) | Acute inflammation of urethra caused by Neisseria gonorrhoeae,SNOMEDCT ID:29864006,,,,,,,,,, +BMGC_DS05214,BMG_DS012524,Acute gonococcal salpingitis,UMLS ID:C0275654,Acute gonococcal salpingitis | Acute gonococcal salpingitis (disorder),SNOMEDCT ID:45377007,,,acute gonococcal salpingitis,MONDO:0001837,,,acute gonococcal salpingitis,DOID:13942,, +BMGC_DS05215,BMG_DS012532,Gonorrhea of rectum,UMLS ID:C0275665,Gonorrhea of rectum | Gonorrhoea of rectum | Rectal gonorrhoea | Rectal gonorrhea | Infection of rectum caused by Neisseria gonorrhoeae (disorder) | Infection of rectum caused by Neisseria gonorrhoeae,SNOMEDCT ID:42746002,,,,,,,,,, +BMGC_DS05216,BMG_DS012598,Infection due to Bordetella parapertussis (disorder),UMLS ID:C0275742,Bordetella parapertussis infection | Infection caused by Bordetella parapertussis | Infection caused by Bordetella parapertussis (disorder),SNOMEDCT ID:77116006,,,Bordetella parapertussis infectious disease,MONDO:0001353,,,Bordetella parapertussis whooping cough,DOID:11750,, +BMGC_DS05217,BMG_DS012611,Pneumococcal pharyngitis,UMLS ID:C0275761,Pneumococcal pharyngitis | Pneumococcal pharyngitis (disorder),SNOMEDCT ID:76651006,,,,,,,,,, +BMGC_DS05218,BMG_DS012627,Lyme carditis,UMLS ID:C0275778,Lyme carditis | Lyme carditis (disorder),SNOMEDCT ID:77863005,,,,,,,,,, +BMGC_DS05219,BMG_DS012637,Staphylococcal tonsillitis,UMLS ID:C0275793,Staphylococcal tonsillitis | Staphylococcal tonsillitis (disorder),SNOMEDCT ID:11461005,,,,,,,,,, +BMGC_DS05220,BMG_DS012638,Staphylococcal pharyngitis,UMLS ID:C0275794,Staphylococcal pharyngitis | Staphylococcal pharyngitis (disorder),SNOMEDCT ID:82228008,,,,,,,,,, +BMGC_DS05221,BMG_DS012647,Streptococcal tonsillitis,UMLS ID:C0275804,Streptococcal tonsillitis | Streptococcal tonsillitis (disorder),SNOMEDCT ID:41582007,Streptococcal tonsillitis,ICD11 ID:CA03.0,,,,,,,ICD10 ID:J03.0, +BMGC_DS05222,BMG_DS012682,"Early latent syphilis, positive serology, negative cerebrospinal fluid, less than 2 years after infection",UMLS ID:C0275842,"Early latent syphilis, positive serology, negative cerebrospinal fluid, less than 2 years after infection (disorder) | Early latent syphilis, positive serology, negative cerebrospinal fluid, less than 2 years after infection",SNOMEDCT ID:31137003,,,latent early syphilis,MONDO:0040922,,,,,, +BMGC_DS05223,BMG_DS012784,Acute tuberculosis,UMLS ID:C0275959,Acute tuberculosis | Acute tuberculosis (disorder),SNOMEDCT ID:25629007,,,,,,,,,, +BMGC_DS05224,BMG_DS012800,Infection by Campylobacter fetus,UMLS ID:C0275979,Infection by Campylobacter fetus | Infection by Vibrio fetus | Infection caused by Campylobacter fetus | Infection caused by Vibrio fetus | Infection caused by Campylobacter fetus (disorder),SNOMEDCT ID:111835002,,,Campylobacter fetus infectious disease,MONDO:0040728,,,,,, +BMGC_DS05225,BMG_DS012803,Enteric campylobacteriosis,UMLS ID:C0275982,Enteric campylobacteriosis | Enteric campylobacteriosis (disorder) | Campylobacter diarrhoea | Campylobacter diarrhea | Campylobacter intestinal infection,SNOMEDCT ID:18081009,,,,,,,,,, +BMGC_DS05226,BMG_DS012809,Initial lesion of yaws,UMLS ID:C0275990,Initial lesion of yaws | Primary stage of yaws | Mother yaw | Chancre of yaws | Primary framboesia | Primary frambesia | Initial framboesia | Initial yaws lesion | Yaws chancre | Initial lesion of yaws (disorder) | Initial frambesia,SNOMEDCT ID:49442000,,,,,,,early yaws,DOID:10568,, +BMGC_DS05227,BMG_DS012813,Early yaws,UMLS ID:C0275998,Early yaws | Early yaws (disorder),SNOMEDCT ID:23191004,,,early yaws,MONDO:0001067,,,early yaws,DOID:10568,, +BMGC_DS05228,BMG_DS012819,Yaws gummata and ulcers,UMLS ID:C0276007,Yaws gummata and ulcers | Yaws gummata and ulcers (disorder),SNOMEDCT ID:186968004,,,,,,,late yaws,DOID:10567,, +BMGC_DS05229,BMG_DS012836,Haemophilus influenzae pneumonia,UMLS ID:C0276026,Haemophilus influenzae pneumonia | Haemophilus influenzae pneumonia (disorder),SNOMEDCT ID:70036007,,,,,,,,,, +BMGC_DS05230,BMG_DS012837,Haemophilus influenzae otitis media,UMLS ID:C0276027,Haemophilus influenzae otitis media | Haemophilus influenzae otitis media (disorder),SNOMEDCT ID:19021002,,,,,,,,,, +BMGC_DS05231,BMG_DS012867,Sepsis caused by Bacteroides,UMLS ID:C0276064,Sepsis caused by Bacteroides (disorder) | Sepsis caused by Bacteroides | Septicemia caused by Bacteroides | Septicaemia caused by Bacteroides,SNOMEDCT ID:1201760007,,,,,,,,,, +BMGC_DS05232,BMG_DS012873,Infection caused by Pseudomonas aeruginosa,UMLS ID:C0276075,Infection caused by Pseudomonas aeruginosa | Infection caused by Pseudomonas aeruginosa (disorder),SNOMEDCT ID:11218009,,,Pseudomonas aeruginosa infectious disease,MONDO:0040732,,,,,, +BMGC_DS05233,BMG_DS012875,Malignant otitis media,UMLS ID:C0276077,Malignant otitis media | Otitis media due to Pseudomonas aeruginosa | Malignant otitis media (disorder),SNOMEDCT ID:16664009,,,,,,,,,, +BMGC_DS05234,BMG_DS012881,Ecthyma gangrenosum,UMLS ID:C0276085,Ecthyma gangrenosum | Ecthyma gangrenosum (disorder),SNOMEDCT ID:17732003,,,,,,,,,,OMIM ID:MTHU076646 +BMGC_DS05235,BMG_DS012883,Escherichia coli septicemia,UMLS ID:C0276088,Septicemia due to E. Coli | Septicemic colibacillosis | E. coli septicemia | Escherichia coli septicemia | E. coli septicaemia | Escherichia coli septicaemia | Septicaemic colibacillosis | Septicaemia due to E. Coli | Septicemia due to Escherichia coli (disorder) | Septicemia due to Escherichia coli | Septicaemia due to Escherichia coli,SNOMEDCT ID:9323009,,,,,,,,,, +BMGC_DS05236,BMG_DS012884,Pneumonia caused by Escherichia coli,UMLS ID:C0276089,Escherichia coli pneumonia | Pneumonia caused by E. coli | Pneumonia caused by Escherichia coli (disorder) | Pneumonia caused by Escherichia coli,SNOMEDCT ID:51530003,,,,,,,,,, +BMGC_DS05237,BMG_DS012923,Viral myocarditis,UMLS ID:C0276138,Viral myocarditis | Viral myocarditis (disorder),SNOMEDCT ID:89141000,,,viral myocarditis,MONDO:0023161,,,,,ICD10 ID:B33.22, +BMGC_DS05238,BMG_DS012960,Monkeypox (disorder),UMLS ID:C0276180,Monkeypox | Monkeypox (disorder) | Monkeypox | Monkeypox (disorder) | Monkey pox | Mpox,SNOMEDCT ID:186582008 | SNOMEDCT ID:240466002 | SNOMEDCT ID:25157001 | SNOMEDCT ID:359814004,,,monkeypox,MONDO:0002594,,,mpox,DOID:3292,, +BMGC_DS05239,BMG_DS012997,Recurrent herpes simplex,UMLS ID:C0276223,Recurrent herpes simplex | Recurrent herpes simplex (disorder),SNOMEDCT ID:37323009,,,,,,,,,, +BMGC_DS05240,BMG_DS013000,Herpes encephalitis,UMLS ID:C0276226,Herpes encephalitis | HSE - Herpes simplex encephalitis | Herpes simplex encephalitis | Herpetic encephalitis | Herpetic meningoencephalitis | Herpes encephalitis (disorder) | Herpes encephalitis | Encephalitis caused by Herpesvirus | Encephalitis caused by Herpesvirus (disorder) | Encephalitis caused by Herpesviridae,SNOMEDCT ID:79450003 | SNOMEDCT ID:428638009,,,herpes simplex encephalitis,MONDO:0012521,,,,,,OMIM ID:MTHU061461 +BMGC_DS05241,BMG_DS013002,Herpes simplex keratoconjunctivitis,UMLS ID:C0276228,Herpes simplex keratoconjunctivitis | Herpes simplex keratoconjunctivitis (disorder) | HSV keratoconjunctivitis,SNOMEDCT ID:72321008,,,,,,,,,, +BMGC_DS05242,BMG_DS013030,Verruca plana,UMLS ID:C0276262,Verruca plana | Verruca plana (disorder) | Verruca plana | Flat wart | Verruca plana (disorder) | Plane wart | Plane wart (disorder) | Verruca plana | Flat wart | Verruca plana (morphologic abnormality) | Verruca plana,SNOMEDCT ID:123156006 | SNOMEDCT ID:81652008 | SNOMEDCT ID:240539000 | SNOMEDCT ID:1296946004,,,,,,,,,ICD10 ID:B07.8, +BMGC_DS05243,BMG_DS013052,Zika Virus Infection,UMLS ID:C0276289,,,,,Zika virus infectious disease,MONDO:0018661,Zika Virus Infection,MeSH ID:D000071243,Zika fever,DOID:0060478,, +BMGC_DS05244,BMG_DS013106,"Influenza due to Influenza virus, type B",UMLS ID:C0276353,Influenza caused by Influenza B virus (disorder) | Influenza caused by Influenza B virus,SNOMEDCT ID:24662006,,,,,,,,,, +BMGC_DS05245,BMG_DS013213,,UMLS ID:C0276496,,,,,familial Alzheimer disease,MONDO:0100087,,,,,, +BMGC_DS05246,BMG_DS013215,Human immunodeficiency virus I infection,UMLS ID:C0276500,Human immunodeficiency virus I infection | Human immunodeficiency virus I infection (disorder) | Human immunodeficiency virus 1 infection,SNOMEDCT ID:40780007,,,,,,,,,, +BMGC_DS05247,BMG_DS013266,Nutritional deficiency with AIDS (acquired immunodeficiency syndrome),UMLS ID:C0276587,Nutritional deficiency with acquired immunodeficiency syndrome (disorder) | Nutritional deficiency with AIDS (acquired immunodeficiency syndrome) | Nutritional deficiency with acquired immunodeficiency syndrome,SNOMEDCT ID:420691000,,,,,,,,,, +BMGC_DS05248,BMG_DS013285,Chronic viral hepatitis B without delta-agent,UMLS ID:C0276610,Chronic viral hepatitis B without delta-agent | Chronic viral hepatitis B without delta-agent (disorder),SNOMEDCT ID:186639003,"Chronic hepatitis B, unspecified",ICD11 ID:1E51.0Z,,,,,,,ICD10 ID:B18.1, +BMGC_DS05249,BMG_DS013317,Mycotic endocarditis,UMLS ID:C0276648,Mycotic endocarditis | Fungal endocarditis | Mycotic endocarditis (disorder),SNOMEDCT ID:86348002,,,mycotic endocarditis,MONDO:0042433,,,,,, +BMGC_DS05250,BMG_DS013322,Invasive Pulmonary Aspergillosis,UMLS ID:C0276653,,,,,,,Invasive Pulmonary Aspergillosis,MeSH ID:D055744,,,, +BMGC_DS05251,BMG_DS013333,Disseminated coccidioidomycosis,UMLS ID:C0276667,Disseminated coccidioidomycosis | Extra-pulmonary coccidioidomycosis | Disseminated coccidioidomycosis (disorder),SNOMEDCT ID:187031007 | SNOMEDCT ID:85055004,Disseminated coccidioidomycosis,ICD11 ID:1F25.10,,,,,,,ICD10 ID:B38.7, +BMGC_DS05252,BMG_DS013345,Neonatal candidiasis,UMLS ID:C0276682,Neonatal monilia infection | Neonatal moniliasis | Neonatal candida infection | Neonatal candidosis | Neonatal monilia | Neonatal candidiasis | Neonatal monilia infection (disorder) | Neonatal candidiasis (disorder) | Neonatal candidiasis | Neonatal candida infection | Neonatal candidosis | Neonatal thrush,SNOMEDCT ID:3973009 | SNOMEDCT ID:414821002,Neonatal candidosis,ICD11 ID:KA63.2,neonatal candidiasis,MONDO:0004824,,,neonatal candidiasis,DOID:9577,ICD10 ID:P37.5, +BMGC_DS05253,BMG_DS013349,Pulmonary cryptococcosis,UMLS ID:C0276688,Pulmonary cryptococcosis | Pulmonary cryptococcosis (disorder),SNOMEDCT ID:20953001,Pulmonary cryptococcosis,ICD11 ID:1F27.0,,,,,,,ICD10 ID:B45.0, +BMGC_DS05254,BMG_DS013384,Disseminated sporotrichosis,UMLS ID:C0276725,Disseminated sporotrichosis | Disseminated sporotrichosis (disorder),SNOMEDCT ID:91051003,Disseminated sporotrichosis,ICD11 ID:1F2J.3,disseminated sporotrichosis,MONDO:0042484,,,,,ICD10 ID:B42.7, +BMGC_DS05255,BMG_DS013386,Lymphocutaneous sporotrichosis,UMLS ID:C0276727,Lymphocutaneous sporotrichosis | Lymphocutaneous sporotrichosis (disorder),SNOMEDCT ID:87603003,Lymphocutaneous sporotrichosis,ICD11 ID:1F2J.0,,,,,,,ICD10 ID:B42.1, +BMGC_DS05256,BMG_DS013401,Kerion celsi,UMLS ID:C0276742,Tinea kerion | Kerion | Kerion celsi | Tinea kerion (disorder) | Suppurative dermatophytosis | Suppurative ringworm,SNOMEDCT ID:19087001,,,Kerion celsi,MONDO:0010146,,,,,,OMIM ID:275240 +BMGC_DS05257,BMG_DS013413,Onychomycosis caused by Trichophyton rubrum,UMLS ID:C0276754,Onychomycosis caused by Trichophyton rubrum (disorder) | Onychomycosis caused by Trichophyton rubrum,SNOMEDCT ID:56922006,,,,,,,,,, +BMGC_DS05258,BMG_DS013414,Onychomycosis caused by Trichophyton mentagrophytes,UMLS ID:C0276755,Onychomycosis caused by Trichophyton mentagrophytes | Onychomycosis caused by Trichophyton mentagrophytes (disorder),SNOMEDCT ID:23549005,,,,,,,,,, +BMGC_DS05259,BMG_DS013417,Fusariosis,UMLS ID:C0276758,,,,,fusariosis,MONDO:0016426,Fusariosis,MeSH ID:D060585,fusariosis,DOID:0050289,, +BMGC_DS05260,BMG_DS013471,Meningoencephalitis caused by Naegleria,UMLS ID:C0276824,Meningoencephalitis caused by Naegleria (disorder) | Meningoencephalitis caused by Naegleria,SNOMEDCT ID:52281009,,,,,,,,,, +BMGC_DS05261,BMG_DS013556,Schistosoma hematobium infection,UMLS ID:C0276926,Vesical schistosomiasis | Bladder schistosomiasis | Schistosomiasis of bladder | Schistosoma haematobium infection | Schistosoma haematobium infection (disorder),SNOMEDCT ID:60979006,,,,,,,urinary schistosomiasis,DOID:1394,, +BMGC_DS05262,BMG_DS013562,Infection by Schistosoma intercalatum,UMLS ID:C0276932,Infection by Schistosoma intercalatum | Infection caused by Schistosoma intercalatum | Infection caused by Schistosoma intercalatum (disorder),SNOMEDCT ID:52179003,,,Schistosoma intercalatum infectious disease,MONDO:0044351,,,intestinal schistosomiasis,DOID:0050597,, +BMGC_DS05263,BMG_DS013625,Opisthorchis felineus Infection,UMLS ID:C0277004,,,,,,,Opisthorchiasis,MeSH ID:D009889,,,, +BMGC_DS05264,BMG_DS013626,Opisthorchis viverrini Infection,UMLS ID:C0277005,,,,,,,Opisthorchiasis,MeSH ID:D009889,,,, +BMGC_DS05265,BMG_DS013736,Angiostrongylus cantonensis infection,UMLS ID:C0277131,Infection by Angiostrongylus cantonensis | Angiostrongylus cantonensis infection | Infection caused by Angiostrongylus cantonensis | Infection caused by Angiostrongylus cantonensis (disorder),SNOMEDCT ID:35033008,,,,,,MeSH ID:C536369,angiostrongyliasis,DOID:0050256,, +BMGC_DS05266,BMG_DS013753,Infection by Baylisascaris,UMLS ID:C0277150,Infection by Baylisascaris | Infection caused by Baylisascaris | Infection caused by Baylisascaris (disorder),SNOMEDCT ID:91156005,,,baylisascariasis,MONDO:0000297,,,,,, +BMGC_DS05267,BMG_DS013922,Infection by Moniliformis,UMLS ID:C0277334,Infection by Moniliformis | Moniliformiosis | Infection caused by Moniliformis (disorder) | Infection caused by Moniliformis,SNOMEDCT ID:2341000,,,,,,,,,, +BMGC_DS05268,BMG_DS013942,Flea Infestation,UMLS ID:C0277355,,,,,,,Flea Infestations,MeSH ID:D058267,,,, +BMGC_DS05269,BMG_DS014094,Infectious colitis,UMLS ID:C0277524,Infectious colitis | Septic colitis | Infectious colitis (disorder) | Infective colitis,SNOMEDCT ID:39341005,,,infectious colitis,MONDO:0006039,,,,,, +BMGC_DS05270,BMG_DS014095,Infectious gastroenteritis,UMLS ID:C0277525,Infectious gastroenteritis | Infectious gastroenteritis (disorder) | Infectious gastroenteritis | Septic gastroenteritis | Gastric flu | Infectious gastroenteritis (disorder),SNOMEDCT ID:186157003 | SNOMEDCT ID:12463005,,,,,,,,,, +BMGC_DS05271,BMG_DS014098,Traveler's diarrhea,UMLS ID:C0277528,Traveler's diarrhea | Turista | Traveler's diarrhoea | Traveler's diarrhea (disorder),SNOMEDCT ID:11840006,,,,,,,,,, +BMGC_DS05272,BMG_DS014143,"Hemiplegia, Crossed",UMLS ID:C0278110,,,,,alternating hemiplegia,MONDO:0016210,Hemiplegia,MeSH ID:D006429,,,, +BMGC_DS05273,BMG_DS014153,,UMLS ID:C0278151,,,,,facial spasm,MONDO:0007593,,,,,,OMIM ID:134300 +BMGC_DS05274,BMG_DS014164,"Reflex Epilepsy, Reading",UMLS ID:C0278193,,,,,reading seizures,MONDO:0007560,"Epilepsy, Reflex",MeSH ID:D020195,,,,OMIM ID:132300 +BMGC_DS05275,BMG_DS014168,"Reflex Epilepsy, Musicogenic",UMLS ID:C0278198,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS05276,BMG_DS014176,,UMLS ID:C0278510,,,,,childhood medulloblastoma,MONDO:0002797,,,childhood medulloblastoma,DOID:3869,, +BMGC_DS05277,BMG_DS014177,,UMLS ID:C0278511,,,,,localized osteosarcoma,MONDO:0002620,,,localized osteosarcoma,DOID:3356,, +BMGC_DS05278,BMG_DS014178,,UMLS ID:C0278594,,,,,childhood cerebellar astrocytic neoplasm,MONDO:0003842,,,childhood cerebellar astrocytic neoplasm,DOID:6286,, +BMGC_DS05279,BMG_DS014179,,UMLS ID:C0278595,,,,,adult fibrosarcoma,MONDO:0002676,,,adult fibrosarcoma,DOID:3516,, +BMGC_DS05280,BMG_DS014180,,UMLS ID:C0278599,,,,,pediatric infratentorial ependymoma,MONDO:0004248,,,childhood infratentorial ependymoma,DOID:7501,, +BMGC_DS05281,BMG_DS014181,,UMLS ID:C0278600,,,,,childhood brain stem glioma,MONDO:0003869,,,childhood brain stem glioma,DOID:6383,, +BMGC_DS05282,BMG_DS014182,,UMLS ID:C0278601,,,,,inflammatory breast carcinoma,MONDO:0006804,,,inflammatory breast carcinoma,DOID:6263,, +BMGC_DS05283,BMG_DS014183,,UMLS ID:C0278608,,,,,adult liposarcoma,MONDO:0003585,,,adult liposarcoma,DOID:5693,, +BMGC_DS05284,BMG_DS014184,,UMLS ID:C0278619,,,,,extramedullary plasmacytoma,MONDO:0002754,,,extramedullary plasmacytoma,DOID:3720,, +BMGC_DS05285,BMG_DS014185,,UMLS ID:C0278620,,,,,refractory plasma cell neoplasm,MONDO:0004816,,,refractory plasma cell neoplasm,DOID:9544,, +BMGC_DS05286,BMG_DS014186,,UMLS ID:C0278622,,,,,adult malignant schwannoma,MONDO:0004545,,,adult malignant schwannoma,DOID:8369,, +BMGC_DS05287,BMG_DS014187,,UMLS ID:C0278650,,,,,pediatric supratentorial ependymoma,MONDO:0004249,,,childhood supratentorial ependymoma,DOID:7502,, +BMGC_DS05288,BMG_DS014188,,UMLS ID:C0278653,,,,,childhood optic nerve glioma,MONDO:0003932,,,childhood optic nerve glioma,DOID:6576,, +BMGC_DS05289,BMG_DS014189,,UMLS ID:C0278701,,,,,gastric adenocarcinoma,MONDO:0005036,,,gastric adenocarcinoma,DOID:3717,, +BMGC_DS05290,BMG_DS014191,,UMLS ID:C0278717,,,,,intraocular retinoblastoma,MONDO:0003077,,,intraocular retinoblastoma,DOID:4653,, +BMGC_DS05291,BMG_DS014192,,UMLS ID:C0278719,,,,,extraocular retinoblastoma,MONDO:0003078,,,extraocular retinoblastoma,DOID:4656,, +BMGC_DS05292,BMG_DS014193,,UMLS ID:C0278752,,,,,,,,,malignant mesothelioma,DOID:1790,, +BMGC_DS05293,BMG_DS014194,,UMLS ID:C0278754,,,,,childhood central nervous system germ cell tumor,MONDO:0003750,,,central nervous system childhood germ cell tumor,DOID:6052,, +BMGC_DS05294,BMG_DS014195,,UMLS ID:C0278796,,,,,,,,,gestational trophoblastic neoplasm,DOID:3590,, +BMGC_DS05295,BMG_DS014196,,UMLS ID:C0278803,,,,,small intestine adenocarcinoma,MONDO:0003198,,,small intestine adenocarcinoma,DOID:4906,, +BMGC_DS05296,BMG_DS014197,,UMLS ID:C0278804,,,,,duodenal adenocarcinoma,MONDO:0006186,,,duodenum adenocarcinoma,DOID:10816,, +BMGC_DS05297,BMG_DS014198,,UMLS ID:C0278805,,,,,small intestine lymphoma,MONDO:0001852,,,small intestine lymphoma,DOID:13996,, +BMGC_DS05298,BMG_DS014199,,UMLS ID:C0278806,,,,,,,,,gallbladder cancer,DOID:3121,, +BMGC_DS05299,BMG_DS014200,,UMLS ID:C0278846,,,,,invasive malignant thymoma,MONDO:0002592,,,invasive malignant thymoma,DOID:3283,, +BMGC_DS05300,BMG_DS014201,,UMLS ID:C0278847,,,,,noninvasive malignant thymoma,MONDO:0004147,,,noninvasive malignant thymoma,DOID:7214,, +BMGC_DS05301,BMG_DS014204,,UMLS ID:C0278864,,,,,growth hormone-producing pituitary gland adenoma,MONDO:0006238,,,hormone producing pituitary cancer,DOID:5716,, +BMGC_DS05302,BMG_DS014205,,UMLS ID:C0278867,,,,,small size posterior uveal melanoma,MONDO:0024863,,,posterior uveal melanoma,DOID:6566,, +BMGC_DS05303,BMG_DS014206,,UMLS ID:C0278868,,,,,medium/large size posterior uveal melanoma,MONDO:0024864,,,posterior uveal melanoma,DOID:6566,, +BMGC_DS05304,BMG_DS014208,,UMLS ID:C0278873,,,,,adult brainstem glioma,MONDO:0003153,,,adult brain stem glioma,DOID:4813,, +BMGC_DS05305,BMG_DS014209,,UMLS ID:C0278876,,,,,adult medulloblastoma,MONDO:0002794,,,adult medulloblastoma,DOID:3864,, +BMGC_DS05306,BMG_DS014210,,UMLS ID:C0278878,,,,,adult glioblastoma,MONDO:0020690,,,glioblastoma,DOID:3068,, +BMGC_DS05307,BMG_DS014211,,UMLS ID:C0278883,,,,,metastatic melanoma,MONDO:0005191,,,,,, +BMGC_DS05308,BMG_DS014212,,UMLS ID:C0278985,,,,,adult extraskeletal osteosarcoma,MONDO:0004374,,,adult extraosseous osteosarcoma,DOID:7827,, +BMGC_DS05309,BMG_DS014213,,UMLS ID:C0278996,,,,,head and neck cancer,MONDO:0005627,,,,,, +BMGC_DS05310,BMG_DS014214,,UMLS ID:C0279000,,,,,carcinoma of liver and intrahepatic biliary tract,MONDO:0018531,,,liver carcinoma,DOID:686,, +BMGC_DS05311,BMG_DS014215,,UMLS ID:C0279014,,,,,childhood germ cell tumor,MONDO:0003751,,,childhood germ cell cancer,DOID:6053,, +BMGC_DS05312,BMG_DS014216,,UMLS ID:C0279065,,,,,grade I lymphomatoid granulomatosis,MONDO:0859747,,,grade I lymphomatoid granulomatosis,DOID:0081308,, +BMGC_DS05313,BMG_DS014218,,UMLS ID:C0279070,,,,,adult oligodendroglioma,MONDO:0002543,,,adult oligodendroglioma,DOID:3186,, +BMGC_DS05314,BMG_DS014220,,UMLS ID:C0279392,,,,,ovarian seromucinous carcinoma,MONDO:0004032,,,ovarian seromucinous carcinoma,DOID:6898,, +BMGC_DS05315,BMG_DS014222,,UMLS ID:C0279543,,,,,"chronic myelogenous leukemia, BCR-ABL1 positive",MONDO:0011996,,,,,,OMIM ID:608232 +BMGC_DS05316,BMG_DS014223,,UMLS ID:C0279544,,,,,,,,,alveolar soft part sarcoma,DOID:4239,, +BMGC_DS05317,BMG_DS014224,,UMLS ID:C0279545,,,,,adult epithelioid sarcoma,MONDO:0004521,,,adult epithelioid sarcoma,DOID:8282,, +BMGC_DS05318,BMG_DS014225,,UMLS ID:C0279547,,,,,adult malignant hemangiopericytoma,MONDO:0003856,,,adult malignant hemangiopericytoma,DOID:6332,, +BMGC_DS05319,BMG_DS014226,,UMLS ID:C0279548,,,,,adult malignant mesenchymoma,MONDO:0003692,,,adult malignant mesenchymoma,DOID:5894,, +BMGC_DS05320,BMG_DS014227,,UMLS ID:C0279557,,,,,adenosquamous lung carcinoma,MONDO:0004973,,,adenosquamous lung carcinoma,DOID:4829,, +BMGC_DS05321,BMG_DS014229,,UMLS ID:C0279565,,,,,invasive lobular breast carcinoma,MONDO:0005051,,,,,, +BMGC_DS05322,BMG_DS014232,,UMLS ID:C0279592,,,,,T-cell adult acute lymphocytic leukemia,MONDO:0003539,,,T-cell adult acute lymphocytic leukemia,DOID:5602,, +BMGC_DS05323,BMG_DS014234,,UMLS ID:C0279602,,,,,fibrosarcomatous osteosarcoma,MONDO:0004301,,,fibrosarcomatous osteosarcoma,DOID:7603,, +BMGC_DS05324,BMG_DS014235,,UMLS ID:C0279603,,,,,chondroblastic osteosarcoma,MONDO:0002627,,,chondroblastic osteosarcoma,DOID:3372,, +BMGC_DS05325,BMG_DS014236,,UMLS ID:C0279606,,,,,pediatric hepatocellular carcinoma,MONDO:0018055,,,,,, +BMGC_DS05326,BMG_DS014237,,UMLS ID:C0279607,,,,,adult hepatocellular carcinoma,MONDO:0016216,,,adult hepatocellular carcinoma,DOID:0070328,, +BMGC_DS05327,BMG_DS014238,,UMLS ID:C0279608,,,,,epithelial predominant Wilms' tumor,MONDO:0003322,,,epithelial predominant Wilms' tumor,DOID:5189,, +BMGC_DS05328,BMG_DS014239,,UMLS ID:C0279609,,,,,blastema predominant kidney Wilms tumor,MONDO:0003320,,,blastema predominant kidney Wilms' tumor,DOID:5182,, +BMGC_DS05329,BMG_DS014240,,UMLS ID:C0279610,,,,,stromal predominant kidney Wilms tumor,MONDO:0006432,,,stromal predominant kidney Wilms' tumor,DOID:5191,, +BMGC_DS05330,BMG_DS014241,,UMLS ID:C0279611,,,,,mixed cell type kidney Wilms' tumor,MONDO:0003318,,,mixed cell type kidney Wilms' tumor,DOID:5179,, +BMGC_DS05331,BMG_DS014242,,UMLS ID:C0279613,,,,,,,,,alveolar rhabdomyosarcoma,DOID:4051,, +BMGC_DS05332,BMG_DS014243,,UMLS ID:C0279614,,,,,childhood pleomorphic rhabdomyosarcoma,MONDO:0004233,,,childhood pleomorphic rhabdomyosarcoma,DOID:7463,, +BMGC_DS05333,BMG_DS014244,,UMLS ID:C0279622,,,,,small cell osteogenic sarcoma,MONDO:0002630,,,small cell osteogenic sarcoma,DOID:3377,, +BMGC_DS05334,BMG_DS014245,,UMLS ID:C0279626,,,,,esophageal squamous cell carcinoma,MONDO:0005580,,,esophagus squamous cell carcinoma,DOID:3748,, +BMGC_DS05335,BMG_DS014246,,UMLS ID:C0279628,,,,,esophageal adenocarcinoma,MONDO:0005028,,,esophagus adenocarcinoma,DOID:4914,, +BMGC_DS05336,BMG_DS014248,,UMLS ID:C0279635,,,,,diffuse gastric adenocarcinoma,MONDO:0005017,,,gastric diffuse adenocarcinoma,DOID:6217,, +BMGC_DS05337,BMG_DS014249,,UMLS ID:C0279637,,,,,anal carcinoma,MONDO:0003199,,,anal carcinoma,DOID:4908,, +BMGC_DS05338,BMG_DS014250,,UMLS ID:C0279639,,,,,colon mucinous adenocarcinoma,MONDO:0005007,,,colon mucinous adenocarcinoma,DOID:3029,, +BMGC_DS05339,BMG_DS014252,,UMLS ID:C0279651,,,,,gallbladder adenocarcinoma,MONDO:0006215,,,gallbladder adenocarcinoma,DOID:3500,, +BMGC_DS05340,BMG_DS014253,,UMLS ID:C0279652,,,,,rectum mucinous adenocarcinoma,MONDO:0002748,,,rectum mucinous adenocarcinoma,DOID:3709,, +BMGC_DS05341,BMG_DS014255,,UMLS ID:C0279654,,,,,rectal signet ring cell adenocarcinoma,MONDO:0004336,,,rectum signet ring adenocarcinoma,DOID:7707,, +BMGC_DS05342,BMG_DS014256,,UMLS ID:C0279658,,,,,gallbladder squamous cell carcinoma,MONDO:0006220,,,gallbladder squamous cell carcinoma,DOID:5535,, +BMGC_DS05343,BMG_DS014257,,UMLS ID:C0279659,,,,,extrahepatic bile duct adenocarcinoma,MONDO:0002665,,,extrahepatic bile duct adenocarcinoma,DOID:3495,, +BMGC_DS05344,BMG_DS014258,,UMLS ID:C0279661,,,,,pancreatic acinar cell carcinoma,MONDO:0006346,,,pancreatic acinar cell adenocarcinoma,DOID:5742,, +BMGC_DS05345,BMG_DS014259,,UMLS ID:C0279663,,,,,ovarian serous cystadenocarcinoma,MONDO:0006046,,,ovarian serous cystadenocarcinoma,DOID:5746,, +BMGC_DS05346,BMG_DS014260,,UMLS ID:C0279665,,,,,ovarian mucinous cystadenocarcinoma,MONDO:0002701,,,ovarian mucinous cystadenocarcinoma,DOID:3604,, +BMGC_DS05347,BMG_DS014261,,UMLS ID:C0279667,,,,,ovarian clear cell cystadenocarcinoma,MONDO:0004222,,,ovarian clear cell cystadenocarcinoma,DOID:7438,, +BMGC_DS05348,BMG_DS014263,,UMLS ID:C0279671,,,,,cervical squamous cell carcinoma,MONDO:0006143,,,cervical squamous cell carcinoma,DOID:3744,, +BMGC_DS05349,BMG_DS014264,,UMLS ID:C0279672,,,,,cervical adenocarcinoma,MONDO:0005153,,,cervical adenocarcinoma,DOID:3702,, +BMGC_DS05350,BMG_DS014265,,UMLS ID:C0279674,,,,,cervical small cell carcinoma,MONDO:0006142,,,cervix small cell carcinoma,DOID:6740,, +BMGC_DS05351,BMG_DS014266,,UMLS ID:C0279680,,,,,bladder transitional cell carcinoma,MONDO:0005611,,,bladder urothelial carcinoma,DOID:4006,, +BMGC_DS05352,BMG_DS014267,,UMLS ID:C0279681,,,,,bladder squamous cell carcinoma,MONDO:0002760,,,bladder squamous cell carcinoma,DOID:3742,, +BMGC_DS05353,BMG_DS014268,,UMLS ID:C0279682,,,,,bladder adenocarcinoma,MONDO:0002751,,,bladder adenocarcinoma,DOID:3711,, +BMGC_DS05354,BMG_DS014270,,UMLS ID:C0279693,,,,,intermediate cell type uveal melanoma,MONDO:0004062,,,intraocular mixed cell type melanoma,DOID:6992,, +BMGC_DS05355,BMG_DS014271,,UMLS ID:C0279695,,,,,necrotic uveal melanoma,MONDO:0004365,,,necrotic uveal melanoma,DOID:7808,, +BMGC_DS05356,BMG_DS014272,,UMLS ID:C0279697,,,,,salivary gland squamous cell carcinoma,MONDO:0044740,,,,,, +BMGC_DS05357,BMG_DS014274,,UMLS ID:C0279700,,,,,parathyroid gland clear cell adenoma,MONDO:0004303,,,parathyroid transitional clear cell adenoma,DOID:7609,, +BMGC_DS05358,BMG_DS014275,,UMLS ID:C0279701,,,,,mixed cell type adenoma of parathyroid,MONDO:0004304,,,mixed cell type adenoma of parathyroid,DOID:7610,, +BMGC_DS05359,BMG_DS014276,,UMLS ID:C0279702,,,,,clear cell renal carcinoma,MONDO:0005005,,,clear cell renal cell carcinoma,DOID:4467,, +BMGC_DS05360,BMG_DS014277,,UMLS ID:C0279705,,,,,thymoma type B3,MONDO:0006458,,,epithelial malignant thymoma,DOID:7926,, +BMGC_DS05361,BMG_DS014278,,UMLS ID:C0279706,,,,,lymphoepithelioma-like thymic carcinoma,MONDO:0004297,,,lymphoepithelioma-like thymic carcinoma,DOID:7599,, +BMGC_DS05362,BMG_DS014279,,UMLS ID:C0279707,,,,,malignant type A thymoma,MONDO:0004400,,,malignant type A thymoma,DOID:7927,, +BMGC_DS05363,BMG_DS014280,,UMLS ID:C0279708,,,,,testicular yolk sac tumor,MONDO:0003402,,,testicular yolk sac tumor,DOID:5344,, +BMGC_DS05364,BMG_DS014284,,UMLS ID:C0279763,,,,,,,,,endometrial adenocarcinoma,DOID:2870,, +BMGC_DS05365,BMG_DS014285,,UMLS ID:C0279765,,,,,endometrial clear cell adenocarcinoma,MONDO:0006191,,,endometrial clear cell adenocarcinoma,DOID:5299,, +BMGC_DS05366,BMG_DS014286,,UMLS ID:C0279780,,,,,,,,,refractory hairy cell leukemia,DOID:711,, +BMGC_DS05367,BMG_DS014287,,UMLS ID:C0279930,,,,,anterior urethra cancer,MONDO:0004518,,,anterior urethra cancer,DOID:8272,, +BMGC_DS05368,BMG_DS014288,,UMLS ID:C0279931,,,,,posterior urethra cancer,MONDO:0004240,,,posterior urethra cancer,DOID:7488,, +BMGC_DS05369,BMG_DS014289,,UMLS ID:C0279980,,,,,extraskeletal Ewing sarcoma,MONDO:0018270,,,extraosseous Ewings sarcoma-primitive neuroepithelial tumor,DOID:4985,, +BMGC_DS05370,BMG_DS014290,,UMLS ID:C0279981,,,,,pediatric fibrosarcoma,MONDO:0002678,,,childhood fibrosarcoma,DOID:3520,, +BMGC_DS05371,BMG_DS014291,,UMLS ID:C0279983,,,,,childhood malignant hemangiopericytoma,MONDO:0004344,,,childhood malignant hemangiopericytoma,DOID:7731,, +BMGC_DS05372,BMG_DS014292,,UMLS ID:C0279984,,,,,pediatric liposarcoma,MONDO:0003587,,,childhood liposarcoma,DOID:5695,, +BMGC_DS05373,BMG_DS014293,,UMLS ID:C0279985,,,,,,,,,alveolar soft part sarcoma,DOID:4239,, +BMGC_DS05374,BMG_DS014294,,UMLS ID:C0279987,,,,,childhood malignant schwannoma,MONDO:0004345,,,childhood malignant schwannoma,DOID:7732,, +BMGC_DS05375,BMG_DS014295,,UMLS ID:C0279988,,,,,pediatric angiosarcoma,MONDO:0003022,,,childhood angiosarcoma,DOID:4505,, +BMGC_DS05376,BMG_DS014296,,UMLS ID:C0279989,,,,,childhood epithelioid sarcoma,MONDO:0004105,,,childhood epithelioid sarcoma,DOID:7095,, +BMGC_DS05377,BMG_DS014297,,UMLS ID:C0279991,,,,,childhood malignant mesenchymoma,MONDO:0003691,,,childhood malignant mesenchymoma,DOID:5893,, +BMGC_DS05378,BMG_DS014299,,UMLS ID:C0280089,,,,,lung carcinoid tumor,MONDO:0006041,,,,,, +BMGC_DS05379,BMG_DS014300,,UMLS ID:C0280131,,,,,ovarian teratoma,MONDO:0005602,,,ovarian germ cell teratoma,DOID:5567,, +BMGC_DS05380,BMG_DS014301,,UMLS ID:C0280134,,,,,ovarian monodermal and highly specialized teratoma,MONDO:0002372,,,ovarian germ cell monodermal and highly specialized teratoma,DOID:2641,, +BMGC_DS05381,BMG_DS014302,,UMLS ID:C0280135,,,,,ovarian mixed germ cell neoplasm,MONDO:0003710,,,ovarian mixed germ cell neoplasm,DOID:5936,, +BMGC_DS05382,BMG_DS014303,,UMLS ID:C0280141,,,,,acute undifferentiated leukemia,MONDO:0020321,,,,,, +BMGC_DS05383,BMG_DS014307,,UMLS ID:C0280302,,,,,squamous cell carcinoma of lip,MONDO:0021427,,,,,, +BMGC_DS05384,BMG_DS014311,,UMLS ID:C0280313,,,,,oropharynx squamous cell carcinoma,MONDO:0044704,,,,,, +BMGC_DS05385,BMG_DS014313,,UMLS ID:C0280321,,,,,hypopharynx squamous cell carcinoma,MONDO:0044638,,,,,, +BMGC_DS05386,BMG_DS014314,,UMLS ID:C0280324,,,,,laryngeal squamous cell carcinoma,MONDO:0005595,,,laryngeal squamous cell carcinoma,DOID:2876,, +BMGC_DS05387,BMG_DS014315,,UMLS ID:C0280325,,,,,glottis squamous cell carcinoma,MONDO:0004080,,,glottis squamous cell carcinoma,DOID:7031,, +BMGC_DS05388,BMG_DS014316,,UMLS ID:C0280326,,,,,subglottis squamous cell carcinoma,MONDO:0004291,,,subglottis squamous cell carcinoma,DOID:7585,, +BMGC_DS05389,BMG_DS014317,,UMLS ID:C0280328,,,,,larynx verrucous carcinoma,MONDO:0002766,,,larynx verrucous carcinoma,DOID:3752,, +BMGC_DS05390,BMG_DS014318,,UMLS ID:C0280329,,,,,glottis verrucous carcinoma,MONDO:0004289,,,glottis verrucous carcinoma,DOID:7583,, +BMGC_DS05391,BMG_DS014319,,UMLS ID:C0280330,,,,,subglottis verrucous carcinoma,MONDO:0004290,,,subglottis verrucous carcinoma,DOID:7584,, +BMGC_DS05392,BMG_DS014320,,UMLS ID:C0280331,,,,,supraglottis verrucous carcinoma,MONDO:0004292,,,supraglottis verrucous carcinoma,DOID:7586,, +BMGC_DS05393,BMG_DS014321,,UMLS ID:C0280332,,,,,nasal cavity and paranasal sinus squamous cell carcinoma,MONDO:0044787,,,,,, +BMGC_DS05394,BMG_DS014322,,UMLS ID:C0280333,,,,,nasal cavity squamous cell carcinoma,MONDO:0006059,,,nasal cavity squamous cell carcinoma,DOID:5515,, +BMGC_DS05395,BMG_DS014323,,UMLS ID:C0280334,,,,,paranasal sinus squamous cell carcinoma,MONDO:0044705,,,paranasal sinus cancer,DOID:0050619,, +BMGC_DS05396,BMG_DS014324,,UMLS ID:C0280336,,,,,nasal cavity inverting papilloma,MONDO:0003065,,,nasal cavity inverting papilloma,DOID:4633,, +BMGC_DS05397,BMG_DS014325,,UMLS ID:C0280470,,,,,anus basaloid carcinoma,MONDO:0004130,,,anus basaloid carcinoma,DOID:7174,, +BMGC_DS05398,BMG_DS014326,,UMLS ID:C0280475,,,,,childhood oligodendroglioma,MONDO:0002540,,,childhood oligodendroglioma,DOID:3183,, +BMGC_DS05399,BMG_DS014327,,UMLS ID:C0280623,,,,,childhood choroid plexus neoplasm,MONDO:0024744,,,childhood choroid plexus cancer,DOID:3545,, +BMGC_DS05400,BMG_DS014328,,UMLS ID:C0280630,,,,,uterine carcinosarcoma,MONDO:0006485,,,uterine carcinosarcoma,DOID:6171,, +BMGC_DS05401,BMG_DS014329,,UMLS ID:C0280631,,,,,leiomyosarcoma of the corpus uteri,MONDO:0016262,,,uterus leiomyosarcoma,DOID:5289,, +BMGC_DS05402,BMG_DS014331,,UMLS ID:C0280656,,,,,pediatric meningioma,MONDO:0003057,,,childhood meningioma,DOID:4593,, +BMGC_DS05403,BMG_DS014332,,UMLS ID:C0280725,,,,,,,,,cholangiocarcinoma,DOID:4947,, +BMGC_DS05404,BMG_DS014333,,UMLS ID:C0280746,,,,,ovarian sarcoma,MONDO:0002225,,,ovary sarcoma,DOID:2146,, +BMGC_DS05405,BMG_DS014334,,UMLS ID:C0280783,,,,,juvenile pilocytic astrocytoma,MONDO:0003999,,,juvenile pilocytic astrocytoma,DOID:6811,, +BMGC_DS05406,BMG_DS014336,,UMLS ID:C0280787,,,,,adult anaplastic ependymoma,MONDO:0003690,,,malignant adult ependymoma,DOID:5890,, +BMGC_DS05407,BMG_DS014337,,UMLS ID:C0280788,,,,,anaplastic ependymoma,MONDO:0016700,,,,,, +BMGC_DS05408,BMG_DS014338,,UMLS ID:C0280791,,,,,mixed astrocytoma-ependymoma,MONDO:0004393,,,mixed astrocytoma-ependymoma,DOID:7907,, +BMGC_DS05409,BMG_DS014339,,UMLS ID:C0280792,,,,,mixed astrocytoma-ependymoma-oligodendroglioma,MONDO:0004366,,,mixed astrocytoma-ependymoma-oligodendroglioma,DOID:7817,, +BMGC_DS05410,BMG_DS014340,,UMLS ID:C0280793,,,,,,,,,mixed oligodendroglioma-astrocytoma,DOID:7912,, +BMGC_DS05411,BMG_DS014341,,UMLS ID:C0280794,,,,,adult pineal parenchymal tumor,MONDO:0003248,,,adult pineal parenchymal tumor,DOID:5031,, +BMGC_DS05412,BMG_DS014342,,UMLS ID:C0280795,,,,,pineal gland astrocytoma,MONDO:0003171,,,pineal gland astrocytoma,DOID:4858,, +BMGC_DS05413,BMG_DS014343,,UMLS ID:C0280796,,,,,adult central nervous system germ cell tumor,MONDO:0003405,,,central nervous system adult germ cell tumor,DOID:5349,, +BMGC_DS05414,BMG_DS014345,,UMLS ID:C0280803,,,,,primary central nervous system lymphoma,MONDO:0002571,,,central nervous system lymphoma,DOID:3234,, +BMGC_DS05415,BMG_DS014346,,UMLS ID:C0280856,,,,,vulvar squamous cell carcinoma,MONDO:0024609,,,vulva squamous cell carcinoma,DOID:2101,, +BMGC_DS05416,BMG_DS014349,,UMLS ID:C0281267,,,,,bilateral breast carcinoma,MONDO:0003982,,,bilateral breast cancer,DOID:6741,, +BMGC_DS05417,BMG_DS014350,,UMLS ID:C0281329,,,,,adult infiltrating astrocytic neoplasm,MONDO:0004320,,,adult infiltrating astrocytic neoplasm,DOID:7656,, +BMGC_DS05418,BMG_DS014351,,UMLS ID:C0281330,,,,,"adult embryonal tumor with multilayered rosettes, c19mc-altered",MONDO:0004310,,,"adult embryonal tumor with multilayered rosettes, C19MC-altered",DOID:7631,, +BMGC_DS05419,BMG_DS014352,,UMLS ID:C0281332,,,,,adult pineoblastoma,MONDO:0003957,,,adult pineoblastoma,DOID:6648,, +BMGC_DS05420,BMG_DS014353,,UMLS ID:C0281334,,,,,adult papillary meningioma,MONDO:0004373,,,adult papillary meningioma,DOID:7826,, +BMGC_DS05421,BMG_DS014354,,UMLS ID:C0281361,,,,,pancreatic adenocarcinoma,MONDO:0006047,,,pancreatic adenocarcinoma,DOID:4074,, +BMGC_DS05422,BMG_DS014356,,UMLS ID:C0281508,,,,,desmoplastic small round cell tumor,MONDO:0019373,,,,,, +BMGC_DS05423,BMG_DS014357,,UMLS ID:C0281658,,,,,intraocular lymphoma,MONDO:0004351,,,intraocular lymphoma,DOID:775,, +BMGC_DS05424,BMG_DS014377,"Chondrodysplasia punctata, X-linked dominant type",UMLS ID:C0282102,"Chondrodysplasia punctata, Conradi-Hünermann type | Conradi-Hünermann syndrome | Conradi's syndrome | Chondrodysplasia punctata, Conradi-Hunermann type | Conradi-Hunermann syndrome | Chondrodysplasia punctata, X-linked dominant type | Chondrodysplasia calcificans congenita | Chondrodysplasia punctata, Conradi-Hünermann type (disorder) | Chondrodysplasia punctata, X-linked dominant type (disorder) | Chondrodysplasia punctata, X-linked dominant type | Conradi Hünermann Happle syndrome | X-linked chondrodysplasia punctata type 2 | Chondrodystrophia calcificans congenita | Happle syndrome",SNOMEDCT ID:22932004 | SNOMEDCT ID:398958000,,,X-linked chondrodysplasia punctata 2,MONDO:0020603,,,,,,OMIM ID:302960 +BMGC_DS05425,BMG_DS014378,,UMLS ID:C0282126,,,,,neurotic depression,MONDO:0024614,,,neurotic disorder,DOID:4964,, +BMGC_DS05426,BMG_DS014379,,UMLS ID:C0282160,,,,,aplasia cutis congenita,MONDO:0007145,,,,,,OMIM ID:107600 +BMGC_DS05427,BMG_DS014381,Iron Overload,UMLS ID:C0282193,,,,,,,Iron Overload,MeSH ID:D019190,,,, +BMGC_DS05428,BMG_DS014383,Cronkhite-Canada Syndrome,UMLS ID:C0282207,,,,,Cronkhite-Canada syndrome,MONDO:0008283,Cronkhite-Canada Syndrome,MeSH ID:D000098858,,,,OMIM ID:175500 +BMGC_DS05429,BMG_DS014384,Amaurotic Familial Idiocy,UMLS ID:C0282220,,,,,,,Tay-Sachs Disease,MeSH ID:D013661,,,, +BMGC_DS05430,BMG_DS014387,Bubonic Plague,UMLS ID:C0282312,,,,,bubonic plague,MONDO:0001112,Plague,MeSH ID:D010930,bubonic plague,DOID:10773,, +BMGC_DS05431,BMG_DS014388,Interstitial Cystitis,UMLS ID:C0282488,,,,,interstitial cystitis,MONDO:0018301,"Cystitis, Interstitial",MeSH ID:D018856,interstitial cystitis,DOID:13949,, +BMGC_DS05432,BMG_DS014389,Sneddon Syndrome,UMLS ID:C0282492,,,,,Sneddon syndrome,MONDO:0008436,Sneddon Syndrome,MeSH ID:D018860,Sneddon syndrome,DOID:13096,,OMIM ID:182410 +BMGC_DS05433,BMG_DS014390,Environmental Illness,UMLS ID:C0282504,,,,,,,Environmental Illness,MeSH ID:D018876,,,, +BMGC_DS05434,BMG_DS014391,Landau-Kleffner Syndrome,UMLS ID:C0282512,,,,,Landau-Kleffner syndrome,MONDO:0009509,Landau-Kleffner Syndrome,MeSH ID:D018887,Landau-Kleffner syndrome,DOID:2538,,OMIM ID:245570 +BMGC_DS05435,BMG_DS014392,,UMLS ID:C0282513,,,,,primary progressive aphasia,MONDO:0019806,,,,,, +BMGC_DS05436,BMG_DS014393,"Adrenoleukodystrophy, Neonatal",UMLS ID:C0282525,,,,,,,Peroxisomal Disorders,MeSH ID:D018901,,,, +BMGC_DS05437,BMG_DS014394,Hyperpipecolic Acidemia,UMLS ID:C0282526,,,,,,,Peroxisomal Disorders,MeSH ID:D018901,,,, +BMGC_DS05438,BMG_DS014395,"Refsum Disease, Infantile",UMLS ID:C0282527,,,,,obsolete infantile Refsum disease | peroxisome biogenesis disorder 1B,MONDO:0011101;MONDO:0019174,"Refsum Disease, Infantile",MeSH ID:D052919,infantile Refsum disease,DOID:0050444,,OMIM ID:601539 +BMGC_DS05439,BMG_DS014396,Peroxisomal Disorders,UMLS ID:C0282528,,,,,peroxisomal disease,MONDO:0019053,Peroxisomal Disorders,MeSH ID:D018901,peroxisomal disease,DOID:906,, +BMGC_DS05440,BMG_DS014397,"Chondrodysplasia Punctata, Rhizomelic",UMLS ID:C0282529,,,,,rhizomelic chondrodysplasia punctata,MONDO:0015776,"Chondrodysplasia Punctata, Rhizomelic",MeSH ID:D018902,rhizomelic chondrodysplasia punctata,DOID:2580,, +BMGC_DS05441,BMG_DS014398,Leukostasis,UMLS ID:C0282548,Leukostasis | Leukostasis (morphologic abnormality),SNOMEDCT ID:30419000,,,leukostasis,MONDO:0006831,Leukostasis,MeSH ID:D018921,leukostasis,DOID:12986,, +BMGC_DS05442,BMG_DS014399,Persian Gulf Syndrome,UMLS ID:C0282550,,,,,persian gulf syndrome,MONDO:0005907,Persian Gulf Syndrome,MeSH ID:D018923,persian gulf syndrome,DOID:4491,, +BMGC_DS05443,BMG_DS014400,Congenital Disorders of Glycosylation,UMLS ID:C0282577,,,,,congenital disorder of glycosylation,MONDO:0015286,Congenital Disorders of Glycosylation,MeSH ID:D018981,congenital disorder of glycosylation,DOID:5212,, +BMGC_DS05444,BMG_DS014401,,UMLS ID:C0282606,,,,,myomatous neoplasm,MONDO:0021545,,,muscle benign neoplasm,DOID:461,, +BMGC_DS05445,BMG_DS014402,,UMLS ID:C0282607,,,,,vascular neoplasm,MONDO:0024296,,,vascular cancer,DOID:175,, +BMGC_DS05446,BMG_DS014403,,UMLS ID:C0282609,,,,,bone marrow neoplasm,MONDO:0005374,,,,,, +BMGC_DS05447,BMG_DS014406,"Smith-Lemli-Opitz Syndrome, Type I",UMLS ID:C0282643,,,,,,,Smith-Lemli-Opitz Syndrome,MeSH ID:D019082,,,, +BMGC_DS05448,BMG_DS014407,"Smith-Lemli-Opitz Syndrome, Type II",UMLS ID:C0282644,,,,,,,Smith-Lemli-Opitz Syndrome,MeSH ID:D019082,,,, +BMGC_DS05449,BMG_DS014410,"Hemorrhagic Fever, Ebola",UMLS ID:C0282687,,,,,Ebola hemorrhagic fever,MONDO:0005737,"Hemorrhagic Fever, Ebola",MeSH ID:D019142,Ebola hemorrhagic fever,DOID:4325,, +BMGC_DS05450,BMG_DS014411,Phycomycosis,UMLS ID:C0300933,Zygomycosis (& [mucormycosis]) | Zygomycosis | Phycomycosis | Mucormycosis | Zygomycosis (& [mucormycosis]) (disorder) | Zygomycosis | Phycomycosis | Zygomycosis (disorder),SNOMEDCT ID:187098003 | SNOMEDCT ID:59277005,,,,,Zygomycosis,MeSH ID:D020096,,,, +BMGC_DS05451,BMG_DS014413,Alymphocytosis,UMLS ID:C0300946,Lymphocytopenia | Lymphopenia | Alymphocytosis | Lymphocytopenia (disorder),SNOMEDCT ID:48813009,,,,,,,,,, +BMGC_DS05452,BMG_DS014414,,UMLS ID:C0300948,,,,,caudal regression sequence,MONDO:0017607,,,,,, +BMGC_DS05453,BMG_DS014423,,UMLS ID:C0302182,,,,,trabecular adenocarcinoma,MONDO:0002822,,,Merkel cell carcinoma,DOID:3965,, +BMGC_DS05454,BMG_DS014426,,UMLS ID:C0302313,,,,,lytic metastatic bone lesion,MONDO:0043731,,,,,, +BMGC_DS05455,BMG_DS014427,Xanthoma,UMLS ID:C0302314,Xanthomatous deposition | Xanthelasma | Xanthoma | Xanthomatous deposition (morphologic abnormality) | Xanthomatosis | Xanthoma | Xanthomatosis (disorder) | Xanthoma of eyelid | Xanthoma of eyelid (disorder),SNOMEDCT ID:75594004 | SNOMEDCT ID:63103006 | SNOMEDCT ID:6400008,,,xanthoma,MONDO:0005236,Xanthomatosis,MeSH ID:D014973,,,,OMIM ID:MTHU012701 +BMGC_DS05456,BMG_DS014428,"Porokeratosis, Linear",UMLS ID:C0302319,,,,,linear porokeratosis,MONDO:0023246,Porokeratosis,MeSH ID:D017499,,,, +BMGC_DS05457,BMG_DS014429,,UMLS ID:C0302327,,,,,meningeal sarcoma,MONDO:0004308,,,meninges sarcoma,DOID:7614,, +BMGC_DS05458,BMG_DS014433,,UMLS ID:C0302362,,,,,Brucella melitensis brucellosis,MONDO:0001972,,,Brucella melitensis brucellosis,DOID:14456,, +BMGC_DS05459,BMG_DS014434,,UMLS ID:C0302363,,,,,Brucella abortus brucellosis,MONDO:0001973,,,Brucella abortus brucellosis,DOID:14457,, +BMGC_DS05460,BMG_DS014436,Alcohol Withdrawal Hallucinosis,UMLS ID:C0302369,,,,,,,Alcohol Withdrawal Delirium,MeSH ID:D000430,,,, +BMGC_DS05461,BMG_DS014441,,UMLS ID:C0302592,,,,,cervical carcinoma,MONDO:0005131,,,cervix carcinoma,DOID:2893,, +BMGC_DS05462,BMG_DS014442,Fulminant Hepatitis,UMLS ID:C0302809,,,,,,,Massive Hepatic Necrosis,MeSH ID:D047508,,,, +BMGC_DS05463,BMG_DS014444,Euthyroid Goiter,UMLS ID:C0302859,,,,,"goiter, multinodular 1, with or without Sertoli-Leydig cell tumors",MONDO:0007681,,MeSH ID:C562732,,,,OMIM ID:138800 +BMGC_DS05464,BMG_DS014446,,UMLS ID:C0302892,,,,,,,,,porencephaly,DOID:0060263,, +BMGC_DS05465,BMG_DS014452,Pustular folliculitis,UMLS ID:C0311217,Folliculitis decalvans | Folliculitis decalvans (disorder) | Folliculitis depilans | Pustular folliculitis | Pustular folliculitis (disorder),SNOMEDCT ID:53593008 | SNOMEDCT ID:53651004,,,,,,,,,, +BMGC_DS05466,BMG_DS014455,Frozen shoulder,UMLS ID:C0311223,"Adhesive capsulitis of shoulder (disorder) | Adhesive capsulitis of shoulder | Duplay's periarthritis syndrome | Pericapsulitis of shoulder | Frozen shoulder | Periarthritis of shoulder | Duplay periarthritis syndrome | Adhesive capsulitis of shoulder | Scapulohumeral fibrositis | Frozen shoulder | Scapulohumeral myofibrosis | Duplay's periarthritis syndrome | Periarthritis of shoulder | Pericapsulitis of shoulder | Adhesive capsulitis of shoulder (disorder) | Shoulder: (frozen) or (adhesive capsulitis) or (bursitis) | Frozen shoulder | Adhesive capsulitis of the shoulder | Adhesive capsulitis shoulder | Adhesive capsulitis of shoulder | Bursitis - shoulder | Bursitis of shoulder | Shoulder: (frozen) or (adhesive capsulitis) or (bursitis) (disorder) | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) | Infraspinatus tendinitis | Bursitis of shoulder | Shoulder syndrome | Painful arc syndr - shoulder | Pericapsulitis of shoulder | Subscapularis tendinitis | Biceps tendinitis (long head) | Pericapsulitis, shoulder | Painful arc syndrome: shoulder | Bursitis - shoulder | Supraspinatus tendinitis | Rotator cuff syndrome | Bicipital tendinitis-shoulder | Adhesive capsulitis of shoulder | Adhesions-capsulitis,shoulder | Frozen shoulder | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) (disorder) | Frozen shoulder | Frozen shoulder (disorder) | Adhesions-capsulitis,shoulder | Shoulder syndrome | Pericapsulitis, shoulder | Bicipital tendinitis-shoulder | Subscapularis tendinitis | Painful arc syndr - shoulder | Frozen shoulder | Pericapsulitis of shoulder | Adhesive capsulitis of shoulder | Rotator cuff syndrome | Supraspinatus tendinitis | Infraspinatus tendinitis | Bursitis of shoulder | Biceps tendinitis (long head) | Painful arc syndrome: shoulder | Bursitis - shoulder | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) | (Shoulder: [syndrome (& [painful arc][rotator cuff])][bicipital tendinit][bursitis][frozen][pericapsulit][adhes capsulit]) or (tendinitis: [subscapular][supraspinat][infraspinat][bicep long head]) (disorder)",SNOMEDCT ID:399114005 | SNOMEDCT ID:8753005 | SNOMEDCT ID:202837002 | SNOMEDCT ID:156658000 | SNOMEDCT ID:202847004 | SNOMEDCT ID:156664007 | SNOMEDCT ID:268087008,Adhesive capsulitis of shoulder,ICD11 ID:FB53.0,frozen shoulder,MONDO:0006763,,,frozen shoulder,DOID:14188,ICD10 ID:M75.0, +BMGC_DS05467,BMG_DS014457,Congenital cystic kidney disease,UMLS ID:C0311245,Kidney: [congenital cystic disease] or [fibrocystic] or [polycystic] or [sponge] | Congenital cystic disease of kidney | Fibrocystic kidney | Polycystic kidney | Congenital cystic renal disease | Congenital cystic kidney disease | Sponge kidney | Kidney: [congenital cystic disease] or [fibrocystic] or [polycystic] or [sponge] (disorder) | Congenital cystic kidney disease | Multiple congenital cysts of kidney | Congenital polycystic kidney disease | Sponge kidney | PKD - Polycystic kidney disease | Polycystic kidney disease | Congenital cystic disease of kidney | Congenital cyst of kidney | PCK - Polycystic kidney disease | Congenital cystic kidney disease (disorder),SNOMEDCT ID:204954005 | SNOMEDCT ID:82525005,,,,,,,Meckel syndrome,DOID:0050778,, +BMGC_DS05468,BMG_DS014458,,UMLS ID:C0311249,,,,,cryptophthalmia,MONDO:0020153,,,cryptophthalmia,DOID:0111716,, +BMGC_DS05469,BMG_DS014459,,UMLS ID:C0311251,,,,,,,,,buphthalmos,DOID:11211,, +BMGC_DS05470,BMG_DS014460,Chronic mesenteric ischemia,UMLS ID:C0311262,Chronic mesenteric ischemia | Chronic mesenteric ischaemia | Chronic mesenteric ischaemia (disorder) | Chronic vascular insufficiency of intestine | Chronic intestinal ischemic syndrome | Chronic intestinal vascular insufficiency | Chronic intestinal ischaemia | Chronic mesenteric ischaemia | Chronic intestinal ischaemic syndrome | Chronic intestinal ischemia | Chronic mesenteric ischemia | Chronic vascular insufficiency of intestine (disorder) | CMI - Chronic mesenteric ischemia | CMI - Chronic mesenteric ischaemia,SNOMEDCT ID:266448009 | SNOMEDCT ID:111354009,,,chronic intestinal vascular insufficiency,MONDO:0004622,,,chronic intestinal vascular insufficiency,DOID:8633,, +BMGC_DS05471,BMG_DS014463,Ascending cholangitis,UMLS ID:C0311273,Ascending cholangitis | Ascending cholangitis (disorder),SNOMEDCT ID:26918003,,,ascending cholangitis,MONDO:0001929,,,ascending cholangitis,DOID:14270,ICD10 ID:K83.09, +BMGC_DS05472,BMG_DS014465,Lipoid dermatoarthritis,UMLS ID:C0311284,Lipoid dermatoarthritis | Multicentric reticulohistiocytosis | Nicolau-Balus syndrome | Lipoid dermatoarthritis (disorder),SNOMEDCT ID:84241008,,,multicentric reticulohistiocytosis,MONDO:0015347,,,multicentric reticulohistiocytosis,DOID:11824,ICD10 ID:E78.81, +BMGC_DS05473,BMG_DS014475,Grand Mal Status Epilepticus,UMLS ID:C0311335,,,,,,,Status Epilepticus,MeSH ID:D013226,,,, +BMGC_DS05474,BMG_DS014477,,UMLS ID:C0311338,,,,,fundus albipunctatus,MONDO:0007639,,,fundus albipunctatus,DOID:11105,,OMIM ID:136880 +BMGC_DS05475,BMG_DS014487,Lupus anticoagulant disorder,UMLS ID:C0311370,Lupus anticoagulant disorder | Lupus anticoagulant inhibitor syndrome | SLE inhibitor syndrome | Lupus anticoagulant disorder (disorder) | Lupus anticoagulant,SNOMEDCT ID:19267009,,,,,,,,,, +BMGC_DS05476,BMG_DS014491,Isosporiasis,UMLS ID:C0311386,Coccidial enteritis | Intestinal coccidiosis | Isosporiasis | Intestinal coccidiosis (disorder) | Isosporiasis | Isosporiasis (disorder) | Isosporosis | Isosporiasis | Isosporiasis (disorder) | Isosporiasis (disorder) | Isosporiasis | Isosporosis,SNOMEDCT ID:360427001 | SNOMEDCT ID:73034009 | SNOMEDCT ID:240373006 | SNOMEDCT ID:371423007,"Cystoisosporiasis, unspecified",ICD11 ID:1A33.Z,isosporiasis,MONDO:0018769,Isosporiasis,MeSH ID:D021865,cystoisosporiasis,DOID:2112,ICD10 ID:A07.3, +BMGC_DS05477,BMG_DS014493,Nonspecific urethritis,UMLS ID:C0311389,Nonspecific urethritis | Nonspecific urethritis (disorder),SNOMEDCT ID:154388003,,,,,,,urethritis,DOID:1343,, +BMGC_DS05478,BMG_DS014494,,UMLS ID:C0311468,,,,,hyperbilirubinemia,MONDO:0024288,,,,,, +BMGC_DS05479,BMG_DS014500,,UMLS ID:C0332878,,,,,congenital contractures,MONDO:0022823,,,,,, +BMGC_DS05480,BMG_DS014521,,UMLS ID:C0333355,,,,,mucositis,MONDO:0020579,,,,,, +BMGC_DS05481,BMG_DS014538,,UMLS ID:C0333572,,,,,,,,,amyloid tumor,DOID:6755,, +BMGC_DS05482,BMG_DS014544,Focal Nodular Hyperplasia,UMLS ID:C0333980,,,,,,,Focal Nodular Hyperplasia,MeSH ID:D020518,,,, +BMGC_DS05483,BMG_DS014546,,UMLS ID:C0333992,,,,,clear cell acanthoma,MONDO:0002086,,,clear cell acanthoma,DOID:172,, +BMGC_DS05484,BMG_DS014553,,UMLS ID:C0334019,,,,,inverted follicular keratosis,MONDO:0006563,,,inverted follicular keratosis,DOID:6945,, +BMGC_DS05485,BMG_DS014557,,UMLS ID:C0334039,,,,,nephrogenic adenoma,MONDO:0004191,,,nephrogenic adenoma,DOID:7334,, +BMGC_DS05486,BMG_DS014558,Osteoma cutis,UMLS ID:C0334041,Osteoma cutis (disorder) | Osteoma cutis | Osteoma cutis | Cutaneous ossification | Osteosis cutis | Osteodermia | Osteoma cutis (morphologic abnormality),SNOMEDCT ID:404074003 | SNOMEDCT ID:71304002,,,progressive osseous heteroplasia,MONDO:0008153,,,progressive osseous heteroplasia,DOID:0111535,,OMIM ID:166350 +BMGC_DS05487,BMG_DS014562,"Fibrocystic change, proliferative type with atypia",UMLS ID:C0334056,"Fibrocystic change, proliferative type with atypia | Fibrocystic change, proliferative type with atypia (morphologic abnormality)",SNOMEDCT ID:35813005,,,,,,,proliferative type fibrocystic change of breast,DOID:3274,, +BMGC_DS05488,BMG_DS014564,Epidermal Nevus,UMLS ID:C0334082,,,,,"nevus, epidermal",MONDO:0008093,,MeSH ID:C580062,epidermal nevus,DOID:0111162,,OMIM ID:162900 +BMGC_DS05489,BMG_DS014566,Lymphangiomatosis,UMLS ID:C0334102,Lymphangiomatosis (disorder) | Lymphangiomatosis | Lymphangiomatosis | Lymphangiomatosis (morphologic abnormality),SNOMEDCT ID:403546006 | SNOMEDCT ID:86970009,,,,,,,,,, +BMGC_DS05490,BMG_DS014569,,UMLS ID:C0334121,,,,,inflammatory myofibroblastic tumor,MONDO:0015798,,,,,, +BMGC_DS05491,BMG_DS014572,"Histiocytosis, Familial Lipochrome",UMLS ID:C0334125,,,,,familial lipochrome histiocytosis,MONDO:0009347,,MeSH ID:C562738,,,,OMIM ID:235900 +BMGC_DS05492,BMG_DS014578,,UMLS ID:C0334229,,,,,malignant giant cell tumor,MONDO:0002402,,,malignant giant cell tumor,DOID:2705,, +BMGC_DS05493,BMG_DS014581,,UMLS ID:C0334233,,,,,pleomorphic carcinoma,MONDO:0003573,,,pleomorphic carcinoma,DOID:5662,, +BMGC_DS05494,BMG_DS014582,,UMLS ID:C0334239,,,,,small cell carcinoma,MONDO:0000402,,,small cell carcinoma,DOID:0050685,, +BMGC_DS05495,BMG_DS014583,,UMLS ID:C0334243,,,,,verrucous papilloma,MONDO:0002535,,,verrucous papilloma,DOID:3177,, +BMGC_DS05496,BMG_DS014584,,UMLS ID:C0334244,,,,,papillary squamous carcinoma,MONDO:0002979,,,papillary squamous carcinoma,DOID:4385,, +BMGC_DS05497,BMG_DS014587,,UMLS ID:C0334247,,,,,keratinizing squamous cell carcinoma,MONDO:0005056,,,keratinizing squamous cell carcinoma,DOID:5521,, +BMGC_DS05498,BMG_DS014588,,UMLS ID:C0334250,,,,,,,,,adenoid squamous cell carcinoma,DOID:5524,, +BMGC_DS05499,BMG_DS014589,,UMLS ID:C0334254,,,,,nasopharyngeal type undifferentiated carcinoma,MONDO:0003572,,,lymphoepithelioma-like carcinoma,DOID:5660,, +BMGC_DS05500,BMG_DS014590,,UMLS ID:C0334256,,,,,superficial multifocal basal cell carcinoma,MONDO:0002954,,,superficial basal cell carcinoma,DOID:4300,, +BMGC_DS05501,BMG_DS014592,,UMLS ID:C0334260,,,,,,,,,Borst-Jadassohn intraepidermal carcinoma,DOID:7039,, +BMGC_DS05502,BMG_DS014594,,UMLS ID:C0334265,,,,,transitional cell neoplasm,MONDO:0037254,,,transitional cell carcinoma,DOID:2671,, +BMGC_DS05503,BMG_DS014595,,UMLS ID:C0334266,,,,,transitional cell papilloma,MONDO:0005605,,,transitional papilloma,DOID:2670,, +BMGC_DS05504,BMG_DS014596,,UMLS ID:C0334269,,,,,,,,,inverted transitional papilloma,DOID:4630,, +BMGC_DS05505,BMG_DS014597,,UMLS ID:C0334270,,,,,non-keratinizing sinonasal squamous cell carcinoma,MONDO:0002831,,,Schneiderian carcinoma,DOID:4003,, +BMGC_DS05506,BMG_DS014598,,UMLS ID:C0334271,,,,,sarcomatoid transitional cell carcinoma,MONDO:0002837,,,sarcomatoid transitional cell carcinoma,DOID:4014,, +BMGC_DS05507,BMG_DS014599,,UMLS ID:C0334273,,,,,cloacogenic carcinoma,MONDO:0004129,,,cloacogenic carcinoma,DOID:7173,, +BMGC_DS05508,BMG_DS014600,,UMLS ID:C0334274,,,,,papillary transitional cell carcinoma,MONDO:0006350,,,papillary transitional carcinoma,DOID:4012,, +BMGC_DS05509,BMG_DS014601,,UMLS ID:C0334276,,,,,adenocarcinoma in situ,MONDO:0003218,,,adenocarcinoma in situ,DOID:4943,, +BMGC_DS05510,BMG_DS014603,,UMLS ID:C0334280,,,,,diffuse type adenocarcinoma,MONDO:0021652,,,gastric diffuse adenocarcinoma,DOID:6217,, +BMGC_DS05511,BMG_DS014604,,UMLS ID:C0334285,,,,,bile duct cystadenoma,MONDO:0003420,,,bile duct cystadenoma,DOID:5384,, +BMGC_DS05512,BMG_DS014605,,UMLS ID:C0334286,,,,,bile duct mucinous cystic neoplasm with an associated invasive carcinoma,MONDO:0002868,,,bile duct cystadenocarcinoma,DOID:4075,, +BMGC_DS05513,BMG_DS014606,,UMLS ID:C0334287,,,,,fibrolamellar hepatocellular carcinoma,MONDO:0006210,,,fibrolamellar carcinoma,DOID:5015,, +BMGC_DS05514,BMG_DS014610,,UMLS ID:C0334303,,,,,alveoli adenoma,MONDO:0004428,,,alveoli adenoma,DOID:8003,, +BMGC_DS05515,BMG_DS014611,,UMLS ID:C0334306,,,,,villous adenocarcinoma,MONDO:0003204,,,villous adenocarcinoma,DOID:4917,, +BMGC_DS05516,BMG_DS014613,,UMLS ID:C0334312,,,,,pituitary gland mixed eosinophil-basophil adenoma,MONDO:0004133,,,mixed eosinophil-basophil adenoma,DOID:7179,, +BMGC_DS05517,BMG_DS014614,,UMLS ID:C0334314,,,,,,,,,basophilic adenocarcinoma,DOID:4915,, +BMGC_DS05518,BMG_DS014615,,UMLS ID:C0334315,,,,,clear cell adenoma,MONDO:0003426,,,clear cell adenoma,DOID:5390,, +BMGC_DS05519,BMG_DS014616,,UMLS ID:C0334317,,,,,clear cell adenofibroma,MONDO:0003460,,,clear cell adenofibroma | cystadenofibroma,DOID:5482;DOID:5477,, +BMGC_DS05520,BMG_DS014617,,UMLS ID:C0334318,,,,,lipid-rich carcinoma,MONDO:0003570,,,lipid-rich carcinoma,DOID:5658,, +BMGC_DS05521,BMG_DS014618,,UMLS ID:C0334319,,,,,glycogen-rich carcinoma,MONDO:0045055,,,glycogen-rich carcinoma,DOID:0081028,, +BMGC_DS05522,BMG_DS014619,,UMLS ID:C0334320,,,,,chief cell adenoma,MONDO:0004302,,,chief cell adenoma,DOID:7607,, +BMGC_DS05523,BMG_DS014620,,UMLS ID:C0334321,,,,,water-clear cell adenoma,MONDO:0003433,,,water-clear cell adenoma,DOID:5401,, +BMGC_DS05524,BMG_DS014621,,UMLS ID:C0334322,,,,,,,,,clear cell adenocarcinoma,DOID:4468,, +BMGC_DS05525,BMG_DS014622,,UMLS ID:C0334323,,,,,mixed cell adenoma,MONDO:0003421,,,mixed cell adenoma,DOID:5385,, +BMGC_DS05526,BMG_DS014623,,UMLS ID:C0334325,,,,,lipoadenoma,MONDO:0003431,,,lipoadenoma,DOID:5398,, +BMGC_DS05527,BMG_DS014624,,UMLS ID:C0334327,,,,,trabecular follicular adenocarcinoma,MONDO:0002821,,,trabecular follicular adenocarcinoma,DOID:3964,, +BMGC_DS05528,BMG_DS014625,,UMLS ID:C0334328,,,,,thyroid gland fetal adenoma,MONDO:0004460,,,fetal adenoma,DOID:8102,, +BMGC_DS05529,BMG_DS014626,,UMLS ID:C0334329,,,,,thyroid gland macrofollicular adenoma,MONDO:0004558,,,colloid adenoma,DOID:8419,, +BMGC_DS05530,BMG_DS014627,,UMLS ID:C0334330,,,,,thyroid gland diffuse sclerosing papillary carcinoma,MONDO:0003701,,,diffuse sclerosing papillary thyroid carcinoma,DOID:5914,, +BMGC_DS05531,BMG_DS014629,,UMLS ID:C0334345,,,,,apocrine adenoma,MONDO:0002804,,,apocrine adenoma,DOID:3895,, +BMGC_DS05532,BMG_DS014630,,UMLS ID:C0334346,,,,,apocrine adenocarcinoma,MONDO:0003214,,,apocrine carcinoma,DOID:4933,, +BMGC_DS05533,BMG_DS014631,,UMLS ID:C0334347,,,,,benign spiradenoma,MONDO:0003448,,,spiradenoma,DOID:5444,, +BMGC_DS05534,BMG_DS014632,,UMLS ID:C0334348,,,,,papillary hidradenoma,MONDO:0003446,,,papillary hidradenoma,DOID:5439,, +BMGC_DS05535,BMG_DS014633,,UMLS ID:C0334350,,,,,eccrine papillary adenoma,MONDO:0003450,,,eccrine papillary adenoma,DOID:5446,, +BMGC_DS05536,BMG_DS014634,,UMLS ID:C0334352,,,,,ceruminoma,MONDO:0004276,,,ceruminoma,DOID:7549,, +BMGC_DS05537,BMG_DS014635,,UMLS ID:C0334353,,,,,ceruminous carcinoma,MONDO:0003880,,,ceruminous adenocarcinoma,DOID:6446,, +BMGC_DS05538,BMG_DS014637,,UMLS ID:C0334360,,,,,serous surface papilloma,MONDO:0002362,,,serous surface papilloma,DOID:2614,, +BMGC_DS05539,BMG_DS014638,,UMLS ID:C0334368,,,,,mucin-producing carcinoma,MONDO:0020596,,,mucinous adenocarcinoma,DOID:3030,, +BMGC_DS05540,BMG_DS014640,,UMLS ID:C0334371,,,,,breast secretory carcinoma,MONDO:0003208,,,breast secretory carcinoma,DOID:4922,, +BMGC_DS05541,BMG_DS014641,,UMLS ID:C0334374,,,,,intracystic papillary adenoma,MONDO:0002388,,,intracystic papillary adenoma,DOID:2682,, +BMGC_DS05542,BMG_DS014645,,UMLS ID:C0334389,,,,,,,,,adenoma,DOID:657,, +BMGC_DS05543,BMG_DS014646,,UMLS ID:C0334392,,,,,epithelial-myoepithelial carcinoma,MONDO:0003389,,,epithelial-myoepithelial carcinoma,DOID:5309,, +BMGC_DS05544,BMG_DS014647,,UMLS ID:C0334393,,,,,,,,,adenoid squamous cell carcinoma,DOID:5524,, +BMGC_DS05545,BMG_DS014648,,UMLS ID:C0334401,,,,,,,,,granulosa cell tumor,DOID:2999,, +BMGC_DS05546,BMG_DS014649,,UMLS ID:C0334403,,,,,,,,,juvenile type testicular granulosa cell tumor,DOID:6032,, +BMGC_DS05547,BMG_DS014652,,UMLS ID:C0334410,,,,,malignant Leydig cell tumor,MONDO:0000377,,,Leydig cell tumor,DOID:2696,, +BMGC_DS05548,BMG_DS014657,,UMLS ID:C0334421,,,,,glomangioma,MONDO:0002299,,,glomangioma,DOID:2436,, +BMGC_DS05549,BMG_DS014658,,UMLS ID:C0334422,,,,,glomangiomyoma,MONDO:0024323,,,glomangiomyoma,DOID:8020,, +BMGC_DS05550,BMG_DS014659,,UMLS ID:C0334424,,,,,nodular malignant melanoma,MONDO:0000930,,,nodular malignant melanoma,DOID:10047,, +BMGC_DS05551,BMG_DS014660,,UMLS ID:C0334426,,,,,balloon cell malignant melanoma,MONDO:0000929,,,balloon cell malignant melanoma,DOID:10044,, +BMGC_DS05552,BMG_DS014662,,UMLS ID:C0334443,,,,,epithelioid cell melanoma,MONDO:0002973,,,epithelioid cell melanoma,DOID:4360,, +BMGC_DS05553,BMG_DS014663,,UMLS ID:C0334444,,,,,spindle cell melanoma,MONDO:0006427,,,malignant spindle cell melanoma,DOID:3162,, +BMGC_DS05554,BMG_DS014665,,UMLS ID:C0334451,,,,,sarcomatosis,MONDO:0004309,,,sarcomatosis,DOID:7615,, +BMGC_DS05555,BMG_DS014666,,UMLS ID:C0334459,,,,,congenital fibrosarcoma,MONDO:0004557,,,congenital fibrosarcoma,DOID:8418,, +BMGC_DS05556,BMG_DS014668,,UMLS ID:C0334463,,,,,undifferentiated pleomorphic sarcoma,MONDO:0002142,,,malignant fibrous histiocytoma,DOID:1907,, +BMGC_DS05557,BMG_DS014670,,UMLS ID:C0334469,,,,,sclerosing liposarcoma,MONDO:0003595,,,sclerosing liposarcoma,DOID:5704,, +BMGC_DS05558,BMG_DS014671,,UMLS ID:C0334471,,,,,round cell liposarcoma,MONDO:0005238,,,cellular myxoid liposarcoma,DOID:5692,, +BMGC_DS05559,BMG_DS014672,,UMLS ID:C0334472,,,,,mixed liposarcoma,MONDO:0003594,,,mixed liposarcoma,DOID:5703,, +BMGC_DS05560,BMG_DS014673,,UMLS ID:C0334473,,,,,infiltrating lipoma,MONDO:0004075,,,infiltrating lipoma,DOID:7014,, +BMGC_DS05561,BMG_DS014674,,UMLS ID:C0334474,,,,,spindle cell lipoma,MONDO:0000962,,,spindle cell lipoma,DOID:10184,, +BMGC_DS05562,BMG_DS014675,,UMLS ID:C0334477,,,,,cellular leiomyoma,MONDO:0003296,,,cellular leiomyoma,DOID:5139,, +BMGC_DS05563,BMG_DS014676,,UMLS ID:C0334478,,,,,bizarre leiomyoma,MONDO:0003288,,,bizarre leiomyoma,DOID:5127,, +BMGC_DS05564,BMG_DS014677,,UMLS ID:C0334480,,,,,pleomorphic rhabdomyosarcoma,MONDO:0017386,,,pleomorphic rhabdomyosarcoma,DOID:3250,, +BMGC_DS05565,BMG_DS014678,,UMLS ID:C0334481,,,,,,,,,mixed type rhabdomyosarcoma,DOID:4065,, +BMGC_DS05566,BMG_DS014680,,UMLS ID:C0334488,,,,,clear cell sarcoma of kidney,MONDO:0005006,,,kidney clear cell sarcoma,DOID:4880,, +BMGC_DS05567,BMG_DS014681,,UMLS ID:C0334489,,,,,pancreatoblastoma,MONDO:0019035,,,pancreatoblastoma,DOID:6823,, +BMGC_DS05568,BMG_DS014683,,UMLS ID:C0334492,,,,,malignant mesenchymoma,MONDO:0003633,,,malignant mesenchymoma,DOID:5758,, +BMGC_DS05569,BMG_DS014684,,UMLS ID:C0334495,,,,,malignant ovarian Brenner tumor,MONDO:0002920,,,malignant ovarian Brenner tumor,DOID:4217,, +BMGC_DS05570,BMG_DS014685,,UMLS ID:C0334496,,,,,breast intracanalicular fibroadenoma,MONDO:0002377,,,breast intracanalicular fibroadenoma,DOID:2656,, +BMGC_DS05571,BMG_DS014686,,UMLS ID:C0334497,,,,,breast pericanalicular fibroadenoma,MONDO:0002371,,,breast pericanalicular fibroadenoma,DOID:2639,, +BMGC_DS05572,BMG_DS014688,,UMLS ID:C0334499,,,,,mucinous adenofibroma,MONDO:0002398,,,mucinous adenofibroma,DOID:2700,, +BMGC_DS05573,BMG_DS014690,,UMLS ID:C0334505,,,,,spindle cell synovial sarcoma,MONDO:0003466,,,spindle cell synovial sarcoma,DOID:5487,, +BMGC_DS05574,BMG_DS014691,,UMLS ID:C0334506,,,,,epithelioid cell synovial sarcoma,MONDO:0003469,,,epithelioid cell synovial sarcoma,DOID:5494,, +BMGC_DS05575,BMG_DS014692,,UMLS ID:C0334507,,,,,biphasic synovial sarcoma,MONDO:0003468,,,biphasic synovial sarcoma,DOID:5492,, +BMGC_DS05576,BMG_DS014693,,UMLS ID:C0334511,,,,,,,,,benign fibrous mesothelioma,DOID:2653,, +BMGC_DS05577,BMG_DS014694,,UMLS ID:C0334513,,,,,sarcomatoid mesothelioma,MONDO:0006407,,,sarcomatoid mesothelioma,DOID:4488,, +BMGC_DS05578,BMG_DS014695,,UMLS ID:C0334515,,,,,malignant biphasic mesothelioma,MONDO:0006109,,,malignant biphasic mesothelioma,DOID:4486,, +BMGC_DS05579,BMG_DS014696,,UMLS ID:C0334517,,,,,spermatocytic seminoma,MONDO:0020513,,,spermatocytoma,DOID:5834,, +BMGC_DS05580,BMG_DS014698,,UMLS ID:C0334520,,,,,immature teratoma,MONDO:0024746,,,malignant teratoma,DOID:5563,, +BMGC_DS05581,BMG_DS014699,,UMLS ID:C0334522,,,,,intermediate malignant teratoma,MONDO:0004140,,,intermediate malignant teratoma,DOID:7202,, +BMGC_DS05582,BMG_DS014701,,UMLS ID:C0334524,,,,,mixed germ cell tumor,MONDO:0015864,,,mixed germ cell cancer,DOID:3306,, +BMGC_DS05583,BMG_DS014702,,UMLS ID:C0334525,,,,,malignant struma ovarii,MONDO:0003332,,,malignant struma ovarii,DOID:5208,, +BMGC_DS05584,BMG_DS014703,,UMLS ID:C0334529,,,,,partial hydatidiform mole,MONDO:0016786,,,,,, +BMGC_DS05585,BMG_DS014707,,UMLS ID:C0334533,,,,,arteriovenous hemangioma/malformation,MONDO:0001256,,,arteriovenous malformation,DOID:11294,, +BMGC_DS05586,BMG_DS014709,,UMLS ID:C0334540,,,,,verrucous hemangioma,MONDO:0018734,,,verrucous keratotic hemangioma,DOID:470,, +BMGC_DS05587,BMG_DS014710,,UMLS ID:C0334542,,,,,"hemangiopericytoma, malignant",MONDO:0009330,,,,,,OMIM ID:234820 +BMGC_DS05588,BMG_DS014712,,UMLS ID:C0334546,,,,,osteosarcoma arising in bone Paget disease,MONDO:0004275,,,osteosarcoma arising in bone Paget's disease,DOID:7542,, +BMGC_DS05589,BMG_DS014713,,UMLS ID:C0334548,,,,,periosteal chondroma,MONDO:0002359,,,juxtacortical chondroma,DOID:2601,, +BMGC_DS05590,BMG_DS014714,,UMLS ID:C0334549,,,,,periosteal chondrosarcoma,MONDO:0003680,,,juxtacortical chondrosarcoma,DOID:5866,, +BMGC_DS05591,BMG_DS014715,,UMLS ID:C0334551,,,,,myxoid chondrosarcoma,MONDO:0003681,,,myxoid chondrosarcoma,DOID:5861,, +BMGC_DS05592,BMG_DS014716,,UMLS ID:C0334552,,,,,malignancy in giant cell tumor of bone,MONDO:0006287,,,bone giant cell sarcoma,DOID:4719,, +BMGC_DS05593,BMG_DS014718,,UMLS ID:C0334554,,,,,malignant giant cell tumor of soft parts,MONDO:0003561,,,malignant giant cell tumor of soft parts,DOID:5638,, +BMGC_DS05594,BMG_DS014719,,UMLS ID:C0334556,,,,,adamantinoma,MONDO:0002422,,,adamantinoma | long bone adamantinoma,DOID:2775;DOID:2776,,OMIM ID:102660 +BMGC_DS05595,BMG_DS014722,,UMLS ID:C0334576,,,,,gliomatosis cerebri,MONDO:0016683,,,gliomatosis cerebri,DOID:6128,, +BMGC_DS05596,BMG_DS014723,,UMLS ID:C0334578,,,,,papillary ependymoma,MONDO:0003475,,,papillary ependymoma,DOID:5505,, +BMGC_DS05597,BMG_DS014724,,UMLS ID:C0334579,,,,,anaplastic astrocytoma,MONDO:0016684,,,anaplastic astrocytoma,DOID:3078,, +BMGC_DS05598,BMG_DS014725,,UMLS ID:C0334580,,,,,protoplasmic astrocytoma,MONDO:0016687,,,protoplasmic astrocytoma,DOID:7008,, +BMGC_DS05599,BMG_DS014726,,UMLS ID:C0334581,,,,,gemistocytic astrocytoma,MONDO:0016689,,,gemistocytic astrocytoma,DOID:7005,, +BMGC_DS05600,BMG_DS014727,,UMLS ID:C0334582,,,,,fibrillary astrocytoma,MONDO:0016688,,,fibrillary astrocytoma,DOID:6726,, +BMGC_DS05601,BMG_DS014728,,UMLS ID:C0334583,,,,,pilocytic astrocytoma,MONDO:0016691,,,pilocytic astrocytoma,DOID:4851,, +BMGC_DS05602,BMG_DS014729,,UMLS ID:C0334586,,,,,pleomorphic xanthoastrocytoma,MONDO:0016690,,,pleomorphic xanthoastrocytoma,DOID:4852,, +BMGC_DS05603,BMG_DS014730,,UMLS ID:C0334587,,,,,astroblastoma,MONDO:0016707,,,astroblastoma,DOID:7305,, +BMGC_DS05604,BMG_DS014731,,UMLS ID:C0334588,,,,,giant cell glioblastoma,MONDO:0016682,,,giant cell glioblastoma,DOID:3074,, +BMGC_DS05605,BMG_DS014732,,UMLS ID:C0334590,,,,,anaplastic oligodendroglioma,MONDO:0016696,,,,,, +BMGC_DS05606,BMG_DS014734,,UMLS ID:C0334599,,,,,Pacinian tumor,MONDO:0002383,,,Pacinian tumor,DOID:2669,, +BMGC_DS05607,BMG_DS014735,,UMLS ID:C0334605,,,,,meningothelial meningioma,MONDO:0004145,,,meningothelial meningioma,DOID:7212,, +BMGC_DS05608,BMG_DS014736,,UMLS ID:C0334606,,,,,fibrous meningioma,MONDO:0004144,,,fibrous meningioma,DOID:7211,, +BMGC_DS05609,BMG_DS014737,,UMLS ID:C0334607,,,,,psammomatous meningioma,MONDO:0004143,,,psammomatous meningioma,DOID:7210,, +BMGC_DS05610,BMG_DS014738,,UMLS ID:C0334608,,,,,angiomatous meningioma,MONDO:0003918,,,angiomatous meningioma,DOID:6548,, +BMGC_DS05611,BMG_DS014739,,UMLS ID:C0334611,,,,,transitional meningioma,MONDO:0004146,,,transitional meningioma,DOID:7213,, +BMGC_DS05612,BMG_DS014740,,UMLS ID:C0334612,,,,,sarcomatosis of the meninges,MONDO:0004307,,,sarcomatosis of the meninges,DOID:7613,, +BMGC_DS05613,BMG_DS014741,,UMLS ID:C0334616,,,,,malignant triton tumor,MONDO:0016757,,,malignant triton tumor,DOID:6707,, +BMGC_DS05614,BMG_DS014742,,UMLS ID:C0334618,,,,,granular cell cancer,MONDO:0003252,,,malignant granular cell myoblastoma,DOID:5042,, +BMGC_DS05615,BMG_DS014743,,UMLS ID:C0334633,,,,,lymphoplasmacytic lymphoma,MONDO:0000432,,,,,, +BMGC_DS05616,BMG_DS014744,,UMLS ID:C0334660,,,,,intravascular large B-cell lymphoma,MONDO:0020324,,,,,, +BMGC_DS05617,BMG_DS014745,,UMLS ID:C0334663,,,,,histiocytic sarcoma,MONDO:0019479,,,,,, +BMGC_DS05618,BMG_DS014746,,UMLS ID:C0334664,,,,,mast cell neoplasm,MONDO:0002724,,,mast cell neoplasm,DOID:3664,, +BMGC_DS05619,BMG_DS014749,,UMLS ID:C0334684,,,,,renal adenoma,MONDO:0002395,,,renal adenoma,DOID:2697,, +BMGC_DS05620,BMG_DS014750,,UMLS ID:C0334695,,,,,endometrial stromal tumor,MONDO:0003311,,,endometrial stromal tumor,DOID:5166,, +BMGC_DS05621,BMG_DS014751,,UMLS ID:C0334699,,,,,malignant myoepithelioma,MONDO:0003158,,,myoepithelial carcinoma,DOID:4838,, +BMGC_DS05622,BMG_DS014752,,UMLS ID:C0338070,,,,,childhood cerebral astrocytoma,MONDO:0004071,,,childhood cerebral astrocytoma,DOID:7007,, +BMGC_DS05623,BMG_DS014753,,UMLS ID:C0338078,,,,,silent pituitary adenoma,MONDO:0017825,,,functionless pituitary adenoma,DOID:5715,, +BMGC_DS05624,BMG_DS014754,,UMLS ID:C0338106,,,,,colon adenocarcinoma,MONDO:0002271,,,colon adenocarcinoma,DOID:234,, +BMGC_DS05625,BMG_DS014755,,UMLS ID:C0338113,,,,,uterine corpus sarcoma,MONDO:0005210,,,uterine corpus sarcoma,DOID:5165,, +BMGC_DS05626,BMG_DS014767,"Meningitis, Escherichia coli",UMLS ID:C0338395,,,,,Escherichia coli meningitis,MONDO:0006753,"Meningitis, Escherichia coli",MeSH ID:D020814,,,, +BMGC_DS05627,BMG_DS014768,Proteus meningitis,UMLS ID:C0338396,Proteus meningitis | Proteus meningitis (disorder),SNOMEDCT ID:302877009,,,,,,,,,, +BMGC_DS05628,BMG_DS014785,"Encephalitis, Acute Necrotizing",UMLS ID:C0338418,,,,,acute necrotizing encephalitis,MONDO:0003336,"Leukoencephalitis, Acute Hemorrhagic",MeSH ID:D004684,acute necrotizing encephalitis,DOID:5222,, +BMGC_DS05629,BMG_DS014794,Limbic Encephalitis,UMLS ID:C0338430,,,,,limbic encephalitis,MONDO:0015588,Limbic Encephalitis,MeSH ID:D020363,limbic encephalitis,DOID:0080741,, +BMGC_DS05630,BMG_DS014799,Neurocysticercosis,UMLS ID:C0338437,Cerebral cysticercosis | Cerebral cysticercosis (disorder),SNOMEDCT ID:230215006,,,,,Neurocysticercosis,MeSH ID:D020019,,,, +BMGC_DS05631,BMG_DS014809,Frontotemporal dementia,UMLS ID:C0338451,Frontotemporal dementia | Frontotemporal dementia (disorder),SNOMEDCT ID:230270009,Other specified disorders of the nervous system,ICD11 ID:8E4Y,frontotemporal dementia,MONDO:0017276,,,Grn-related frontotemporal lobar degeneration with Tdp43 inclusions,DOID:0060672,ICD10 ID:G31.0,OMIM ID:MTHU003256 +BMGC_DS05632,BMG_DS014818,,UMLS ID:C0338462,,,,,semantic dementia,MONDO:0010857,,,,,,OMIM ID:600274 +BMGC_DS05633,BMG_DS014822,"Tic Disorders, Vocal",UMLS ID:C0338468,,,,,,,Tic Disorders,MeSH ID:D013981,,,, +BMGC_DS05634,BMG_DS014825,Neuroaxonal Dystrophies,UMLS ID:C0338473,,,,,neuroaxonal dystrophy,MONDO:0002283,Neuroaxonal Dystrophies,MeSH ID:D019150,neuroaxonal dystrophy,DOID:2367,, +BMGC_DS05635,BMG_DS014827,Idiopathic Myoclonic Epilepsy,UMLS ID:C0338478,,,,,,,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS05636,BMG_DS014828,Symptomatic Myoclonic Epilepsy,UMLS ID:C0338479,,,,,,,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS05637,BMG_DS014829,Common Migraine,UMLS ID:C0338480,,,,,migraine without aura,MONDO:0100431,Migraine without Aura,MeSH ID:D020326,migraine without aura,DOID:12783,, +BMGC_DS05638,BMG_DS014831,Migraine with Prolonged Aura,UMLS ID:C0338483,,,,,,,Migraine with Aura,MeSH ID:D020325,,,, +BMGC_DS05639,BMG_DS014832,Familial Hemiplegic Migraine,UMLS ID:C0338484,,,,,familial hemiplegic migraine,MONDO:0000700,Migraine with Aura,MeSH ID:D020325,,,, +BMGC_DS05640,BMG_DS014833,Migraine Aura without Headache,UMLS ID:C0338486,,,,,,,Migraine with Aura,MeSH ID:D020325,,,, +BMGC_DS05641,BMG_DS014835,Alternating hemiplegia of childhood,UMLS ID:C0338488,Alternating hemiplegia of childhood | Alternating hemiplegia of childhood (disorder),SNOMEDCT ID:230466004,,,alternating hemiplegia of childhood,MONDO:0016241,,MeSH ID:C536589,alternating hemiplegia of childhood,DOID:0050635,, +BMGC_DS05642,BMG_DS014836,Status Migrainosus,UMLS ID:C0338489,,,,,,,Migraine Disorders,MeSH ID:D008881,,,, +BMGC_DS05643,BMG_DS014838,"Sleep Apnea, Mixed Central and Obstructive",UMLS ID:C0338495,,,,,complex sleep apnea,MONDO:0024358,Sleep Apnea Syndromes,MeSH ID:D012891,mixed sleep apnea,DOID:0080302,, +BMGC_DS05644,BMG_DS014844,Optic Nerve Hypoplasia,UMLS ID:C0338502,,,,,,,Optic Nerve Hypoplasia,MeSH ID:D000080344,bilateral optic nerve hypoplasia,DOID:0111531,, +BMGC_DS05645,BMG_DS014845,Septo-Optic Dysplasia,UMLS ID:C0338503,,,,,septooptic dysplasia,MONDO:0008428,Septo-Optic Dysplasia,MeSH ID:D025962,septooptic dysplasia,DOID:0060857,,OMIM ID:182230 +BMGC_DS05646,BMG_DS014849,Optic Atrophy 1,UMLS ID:C0338508,,,,,"autosomal dominant optic atrophy, classic form",MONDO:0008134,"Optic Atrophy, Autosomal Dominant",MeSH ID:D029241,,,,OMIM ID:165500 +BMGC_DS05647,BMG_DS014873,Ulnar Neuritis,UMLS ID:C0338538,,,,,,,Ulnar Neuropathies,MeSH ID:D020424,,,, +BMGC_DS05648,BMG_DS014888,Cerebral venous sinus thrombosis,UMLS ID:C0338573,Cerebral venous sinus thrombosis | Cerebral venous sinus thrombosis (disorder) | Thrombosis of intracranial venous sinus,SNOMEDCT ID:192759008,,,,,,,,,, +BMGC_DS05649,BMG_DS014890,Sagittal Sinus Thrombosis,UMLS ID:C0338575,,,,,sagittal sinus thrombosis,MONDO:0002695,Sagittal Sinus Thrombosis,MeSH ID:D020225,sagittal sinus thrombosis,DOID:3576,, +BMGC_DS05650,BMG_DS014895,Sporadic Cerebral Amyloid Angiopathy,UMLS ID:C0338582,,,,,,,Cerebral Amyloid Angiopathy,MeSH ID:D016657,,,, +BMGC_DS05651,BMG_DS014896,Dissection of carotid artery,UMLS ID:C0338585,Carotid artery dissection | Carotid artery dissection (disorder) | Dissection of carotid artery | Dissection of carotid artery (disorder) | Dissection of carotid artery | Carotid artery dissection,SNOMEDCT ID:230729006 | SNOMEDCT ID:720626009,,,carotid artery dissection,MONDO:0004763,,,carotid artery dissection,DOID:9348,ICD10 ID:I77.71, +BMGC_DS05652,BMG_DS014902,,UMLS ID:C0338591,,,,,transient global amnesia,MONDO:0001617,,,transient global amnesia,DOID:13027,, +BMGC_DS05653,BMG_DS014905,Spastic cerebral palsy,UMLS ID:C0338596,Spastic cerebral palsy | Spastic cerebral palsy (disorder) | Spastic cerebral palsy | Spastic cerebral palsy (disorder) | Pyramidal cerebral palsy | Congenital spastic paralysis | Spastic infantile paralysis | Little's disease | Infantile spastic cerebral palsy | Congenital spastic cerebral palsy,SNOMEDCT ID:192959001 | SNOMEDCT ID:230773005,,,spastic cerebral palsy,MONDO:0000396,,,,,,OMIM ID:MTHU033921 +BMGC_DS05654,BMG_DS014923,"Catatonia, Organic",UMLS ID:C0338650,,,,,,,Catatonia,MeSH ID:D002389,,,, +BMGC_DS05655,BMG_DS014943,,UMLS ID:C0338908,,,,,mixed anxiety and depressive disorder,MONDO:0041086,,,,,, +BMGC_DS05656,BMG_DS014977,Blepharochalasis And Double Lip,UMLS ID:C0339085,,,,,Ascher syndrome,MONDO:0007198,,MeSH ID:C562742,,,,OMIM ID:109900 +BMGC_DS05657,BMG_DS014984,,UMLS ID:C0339116,,,,,eyelid melanoma,MONDO:0000928,,,malignant eyelid melanoma,DOID:10040,, +BMGC_DS05658,BMG_DS014987,,UMLS ID:C0339121,,,,,secondary lacrimal atrophy,MONDO:0002124,,,secondary lacrimal atrophy,DOID:1822,, +BMGC_DS05659,BMG_DS014988,,UMLS ID:C0339124,,,,,lacrimal gland neoplasm,MONDO:0021222,,,lacrimal gland cancer,DOID:294,, +BMGC_DS05660,BMG_DS014991,Acute inflammation of lacrimal passages,UMLS ID:C0339129,Acute inflammation of lacrimal passages | Acute inflammation of lacrimal passages (disorder),SNOMEDCT ID:302900006,,,acute inflammation of lacrimal passage,MONDO:0004055,,,acute inflammation of lacrimal passage,DOID:6970,, +BMGC_DS05661,BMG_DS014992,Acute lacrimal canaliculitis,UMLS ID:C0339130,Acute lacrimal canaliculitis | Acute lacrimal canaliculitis (disorder) | Acute canaliculitis,SNOMEDCT ID:84399007,,,acute canaliculitis,MONDO:0004054,,,acute canaliculitis,DOID:6969,ICD10 ID:H04.33, +BMGC_DS05662,BMG_DS014999,Graves Ophthalmopathy,UMLS ID:C0339143,,,,,,,Graves Ophthalmopathy,MeSH ID:D049970,Graves ophthalmopathy,DOID:0081120,, +BMGC_DS05663,BMG_DS015012,Fungal conjunctivitis,UMLS ID:C0339170,Fungal conjunctivitis | Fungal conjunctivitis (disorder),SNOMEDCT ID:231862003,,,,,,,,,, +BMGC_DS05664,BMG_DS015031,Neuropathic corneal ulcer,UMLS ID:C0339223,Neuropathic corneal ulcer | Neuroparalytic keratitis | Neuropathic corneal ulcer (disorder) | Neurotrophic corneal ulcer,SNOMEDCT ID:231901007,,,,,,,,,, +BMGC_DS05665,BMG_DS015051,"Corneal dystrophy, Lattice type 3",UMLS ID:C0339273,,,,,gelatinous drop-like corneal dystrophy,MONDO:0008777,,MeSH ID:C535480,gelatinous drop-like corneal dystrophy,DOID:0060449,,OMIM ID:204870 +BMGC_DS05666,BMG_DS015052,"Corneal Dystrophy, Juvenile Epithelial of Meesmann",UMLS ID:C0339277,,,,,Meesmann corneal dystrophy,MONDO:0007379,"Corneal Dystrophy, Juvenile Epithelial of Meesmann",MeSH ID:D053559,Meesmann corneal dystrophy,DOID:0060451,, +BMGC_DS05667,BMG_DS015053,Reis-Bucklers' corneal dystrophy,UMLS ID:C0339278,Reis-Bucklers' corneal dystrophy | Reis-Bucklers' corneal dystrophy (disorder) | CDB type I corneal dystrophy,SNOMEDCT ID:231930000,,,Reis-Bucklers corneal dystrophy,MONDO:0012043,,,Reis-Bucklers corneal dystrophy,DOID:0060453,,OMIM ID:608470 +BMGC_DS05668,BMG_DS015055,Polymorphous corneal dystrophy,UMLS ID:C0339284,Polymorphous corneal dystrophy | Posterior polymorphous corneal dystrophy (disorder),SNOMEDCT ID:29504002,,,posterior polymorphous corneal dystrophy,MONDO:0020364,,,,,, +BMGC_DS05669,BMG_DS015056,Acute hydrops keratoconus,UMLS ID:C0339286,Acute hydrops keratoconus | Acute hydrops keratoconus (disorder) | Acute hydrops of the cornea,SNOMEDCT ID:111523009,,,acute hydrops keratoconus,MONDO:0000943,,,acute hydrops keratoconus,DOID:10125,, +BMGC_DS05670,BMG_DS015058,Exposure keratoconjunctivitis,UMLS ID:C0339295,Exposure keratoconjunctivitis | Exposure keratoconjunctivitis (disorder) | Exposure keratitis | Exposure keratopathy | Lagophthalmic keratitis,SNOMEDCT ID:14366000,,,exposure keratitis,MONDO:0004794,,,exposure keratitis,DOID:9461,ICD10 ID:H16.21, +BMGC_DS05671,BMG_DS015059,Neurotrophic keratitis,UMLS ID:C0339296,Neurotrophic keratitis | Neurotrophic keratitis (disorder) | Anaesthetic keratopathy | Anesthetic keratopathy | Neurotrophic keratopathy | Neuroparalytic keratopathy,SNOMEDCT ID:128080005,,,neurotrophic keratopathy,MONDO:0015290,,,,,,OMIM ID:MTHU010597 +BMGC_DS05672,BMG_DS015063,,UMLS ID:C0339304,,,,,cornea neoplasm,MONDO:0021238,,,cornea cancer,DOID:6199,, +BMGC_DS05673,BMG_DS015071,Non-infectious anterior uveitis,UMLS ID:C0339317,Non-infectious anterior uveitis | Non-infectious anterior uveitis (disorder),SNOMEDCT ID:267619000,,,non-infectious anterior uveitis,MONDO:0017634,,,,,, +BMGC_DS05674,BMG_DS015072,Lens-induced iridocyclitis,UMLS ID:C0339320,Lens-induced iridocyclitis | Lens-induced iridocyclitis (disorder),SNOMEDCT ID:70461003,Other specified anterior uveitis,ICD11 ID:9A96.Y,lens-induced iridocyclitis,MONDO:0004775,,,lens-induced iridocyclitis,DOID:9388,ICD10 ID:H20.2, +BMGC_DS05675,BMG_DS015077,,UMLS ID:C0339349,,,,,ciliary body neoplasm,MONDO:0021229,,,ciliary body cancer,DOID:4352,, +BMGC_DS05676,BMG_DS015092,Peripheral focal choroiditis AND chorioretinitis,UMLS ID:C0339394,Peripheral focal choroiditis AND chorioretinitis | Peripheral focal choroiditis AND chorioretinitis (disorder) | Peripheral focal chorioretinitis,SNOMEDCT ID:56787009,,,peripheral focal chorioretinitis,MONDO:0001393,,,peripheral focal chorioretinitis,DOID:11864,, +BMGC_DS05677,BMG_DS015112,Partial central choroid dystrophy,UMLS ID:C0339427,Partial central choroid dystrophy | Partial central choroid dystrophy (disorder) | Circinate choroidal dystrophy | Partial central dystrophy of choroid,SNOMEDCT ID:193468002,,,partial central choroid dystrophy,MONDO:0004890,,,partial central choroid dystrophy,DOID:9822,, +BMGC_DS05678,BMG_DS015117,,UMLS ID:C0339436,,,,,degeneration of macula and posterior pole,MONDO:0002175,,,degeneration of macula and posterior pole,DOID:2007,, +BMGC_DS05679,BMG_DS015118,Other retinal disorders,UMLS ID:C0339438,Other retinal disorders &/or retinal haemorrhage | Haemorrhage - retinal | Hemorrhage - retinal | Other retinal disorders &/or retinal hemorrhage | Other retinal disorders | Other retinal disorders &/or retinal haemorrhage (disorder) | Other retinal disorders | Retinopathies | Other retinal disorders &/or retinopathies | Other retinal disorders &/or retinopathies (disorder) | Other retinal disorders | Other retinal disorders (disorder),SNOMEDCT ID:193418005 | SNOMEDCT ID:267715002 | SNOMEDCT ID:193348007 | SNOMEDCT ID:155115009,,,,,,,,,ICD10 ID:H35, +BMGC_DS05680,BMG_DS015147,,UMLS ID:C0339498,,,,,central retinal vein occlusion with macular edema,MONDO:0041093,,,,,, +BMGC_DS05681,BMG_DS015152,Vitelliform Macular Dystrophy,UMLS ID:C0339510,,,,,vitelliform macular dystrophy,MONDO:0000390,Vitelliform Macular Dystrophy,MeSH ID:D057826,vitelliform macular dystrophy,DOID:0050661,, +BMGC_DS05682,BMG_DS015154,Leber Congenital Amaurosis,UMLS ID:C0339527,,,,,Leber congenital amaurosis,MONDO:0018998,Leber Congenital Amaurosis,MeSH ID:D057130,Leber congenital amaurosis,DOID:14791,, +BMGC_DS05683,BMG_DS015157,Usher syndrome type 2,UMLS ID:C0339534,Usher syndrome type 2 | Usher syndrome type 2 (disorder),SNOMEDCT ID:232058008,,,Usher syndrome type 2,MONDO:0016484,,,,,, +BMGC_DS05684,BMG_DS015158,,UMLS ID:C0339535,,,,,congenital stationary night blindness,MONDO:0016293,,,,,, +BMGC_DS05685,BMG_DS015159,,UMLS ID:C0339537,,,,,blue cone monochromacy,MONDO:0010563,,,,,,OMIM ID:303700 +BMGC_DS05686,BMG_DS015160,Familial Exudative Vitreoretinopathies,UMLS ID:C0339539,,,,,exudative vitreoretinopathy,MONDO:0019516,Familial Exudative Vitreoretinopathies,MeSH ID:D000080345,,,, +BMGC_DS05687,BMG_DS015161,Goldmann-Favre syndrome (disorder),UMLS ID:C0339541,Goldmann-Favre syndrome | Goldmann-Favre syndrome (disorder) | Enhanced S-cone syndrome | Retinoschisis with early nyctalopia,SNOMEDCT ID:232065000,,,Goldmann-Favre syndrome,MONDO:0100289,,,,,, +BMGC_DS05688,BMG_DS015163,,UMLS ID:C0339543,,,,,preretinal fibrosis,MONDO:0002174,,,preretinal fibrosis,DOID:2006,, +BMGC_DS05689,BMG_DS015164,Retinal Pigment Epithelial Detachment,UMLS ID:C0339546,,,,,,,Retinal Detachment,MeSH ID:D012163,,,, +BMGC_DS05690,BMG_DS015168,,UMLS ID:C0339556,,,,,retina lymphoma,MONDO:0004349,,,retina lymphoma,DOID:774,, +BMGC_DS05691,BMG_DS015179,,UMLS ID:C0339572,,,,,steroid-induced glaucoma - borderline,MONDO:0001996,,,steroid-induced glaucoma - borderline,DOID:14548,, +BMGC_DS05692,BMG_DS015180,"Glaucoma, Primary Open Angle",UMLS ID:C0339573,,,,,OPTN-related open angle glaucoma,MONDO:0100553,"Glaucoma, Open-Angle",MeSH ID:D005902,primary open angle glaucoma,DOID:1070,,OMIM ID:137760 +BMGC_DS05693,BMG_DS015184,Corticosteroid-induced glaucoma,UMLS ID:C0339578,Corticosteroid-induced glaucoma | Open angle glaucoma caused by corticosteroid (disorder) | Corticosteroid-induced open angle glaucoma | Open angle glaucoma caused by corticosteroid | Steroid responder open angle glaucoma,SNOMEDCT ID:1654001,,,steroid-induced glaucoma,MONDO:0004930,,,steroid-induced glaucoma,DOID:9946,, +BMGC_DS05694,BMG_DS015186,,UMLS ID:C0339580,,,,,residual stage corticosteroid-induced glaucoma,MONDO:0004931,,,residual stage corticosteroid-induced glaucoma,DOID:9948,, +BMGC_DS05695,BMG_DS015197,Glaucoma due to ocular trauma,UMLS ID:C0339594,Traumatic glaucoma | Glaucoma due to ocular trauma | Glaucoma due to ocular trauma (disorder),SNOMEDCT ID:68241007,,,traumatic glaucoma,MONDO:0001626,,,traumatic glaucoma,DOID:13060,, +BMGC_DS05696,BMG_DS015206,Monofixation syndrome,UMLS ID:C0339611,Monofixation syndrome | Monofixation syndrome (disorder),SNOMEDCT ID:14785004,,,monofixation syndrome,MONDO:0004899,,,monofixation syndrome,DOID:9843,ICD10 ID:H50.42, +BMGC_DS05697,BMG_DS015217,Primary Esotropia,UMLS ID:C0339623,,,,,,,Esotropia,MeSH ID:D004948,,,, +BMGC_DS05698,BMG_DS015218,Secondary Esotropia,UMLS ID:C0339624,,,,,,,Esotropia,MeSH ID:D004948,,,, +BMGC_DS05699,BMG_DS015262,Corneal Astigmatism,UMLS ID:C0339682,,,,,,,Astigmatism,MeSH ID:D001251,,,, +BMGC_DS05700,BMG_DS015263,Lenticular Astigmatism,UMLS ID:C0339683,,,,,,,Astigmatism,MeSH ID:D001251,,,, +BMGC_DS05701,BMG_DS015270,Anisometropic Amblyopia,UMLS ID:C0339696,,,,,,,Amblyopia,MeSH ID:D000550,,,, +BMGC_DS05702,BMG_DS015274,"Blindness, Acquired",UMLS ID:C0339730,,,,,,,Blindness,MeSH ID:D001766,,,, +BMGC_DS05703,BMG_DS015283,Chronic otitis media with perforation,UMLS ID:C0339767,"Chronic purulent otitis media | Chronic suppurative otitis media | Chronic otitis media with effusion, purulent | CSOM - Chronic suppurative otitis media | Chronic secretory otitis media, purulent | Otitis media with effusion - purulent | Chronic otitis media with perforation | Chronic purulent otitis media (disorder)",SNOMEDCT ID:38394007,,,,,,,,,, +BMGC_DS05704,BMG_DS015289,Congenital deafness,UMLS ID:C0339789,Congenital deafness | Congenital deafness (disorder),SNOMEDCT ID:95828007,,,,,,,,,,OMIM ID:MTHU078470 +BMGC_DS05705,BMG_DS015312,Disorder of nasal cavity,UMLS ID:C0339820,Disorder of nasal cavity | Disorder of nasal cavity (disorder),SNOMEDCT ID:232340005,,,nasal cavity disorder,MONDO:0002232,,,nasal cavity disease,DOID:2163,, +BMGC_DS05706,BMG_DS015331,,UMLS ID:C0339851,,,,,"nasal bones, absence of",MONDO:0008064,,,,,,OMIM ID:161480 +BMGC_DS05707,BMG_DS015357,Lung disease with systemic sclerosis,UMLS ID:C0339904,Lung disease with systemic sclerosis | Lung disease with systemic sclerosis (disorder) | Scleroderma lung disease | Scleroderma of lung,SNOMEDCT ID:196133001,,,pulmonary systemic sclerosis,MONDO:0002047,,,pulmonary systemic sclerosis,DOID:1578,, +BMGC_DS05708,BMG_DS015375,Acute Moraxella catarrhalis bronchitis,UMLS ID:C0339932,Acute Neisseria catarrhalis bronchitis | Acute Moraxella catarrhalis bronchitis (disorder) | Acute Moraxella catarrhalis bronchitis,SNOMEDCT ID:195722003,,,,,,,,,, +BMGC_DS05709,BMG_DS015376,Acute bacterial bronchitis,UMLS ID:C0339933,Acute bacterial bronchitis | Acute bacterial bronchitis (disorder),SNOMEDCT ID:233598009,,,,,,,,,, +BMGC_DS05710,BMG_DS015383,Pulmonary tularemia,UMLS ID:C0339946,Pulmonary tularemia | Bronchopneumonic tularemia | Pulmonary tularaemia | Bronchopneumonic tularaemia | Pulmonary tularemia (disorder) | Pneumonia with tularaemia | Tularaemia pneumonia | Pneumonia with tularemia | Tularemia pneumonia | Pneumonic tularaemia | Pneumonic tularemia | Pulmonary tularaemia | Pulmonary tularemia | Pulmonary tularemia (disorder),SNOMEDCT ID:45556008 | SNOMEDCT ID:186297007,Other specified tularaemia,ICD11 ID:1B94.Y,pneumonic tularemia,MONDO:0002212,,,pneumonic tularemia,DOID:2122,ICD10 ID:A21.2, +BMGC_DS05711,BMG_DS015390,Chlamydial pneumonia,UMLS ID:C0339959,Chlamydial pneumonia | Chlamydial pneumonia (disorder) | Chlamydial pneumonia | Pneumonia caused by Chlamydiaceae (disorder) | Pneumonia caused by Chlamydiaceae,SNOMEDCT ID:195897008 | SNOMEDCT ID:233609002,Pneumonia due to Chlamydophila pneumoniae,ICD11 ID:CA40.00,pneumonia caused by chlamydia,MONDO:0025598,,,Chlamydia pneumonia,DOID:0040083,ICD10 ID:J16.0, +BMGC_DS05712,BMG_DS015399,Neonatal pneumonia,UMLS ID:C0339968,Neonatal pneumonia | Neonatal pneumonia (disorder),SNOMEDCT ID:233619008,,,,,,,,,, +BMGC_DS05713,BMG_DS015411,Idiopathic bronchiectasis,UMLS ID:C0339985,Idiopathic bronchiectasis | Idiopathic bronchiectasis (disorder),SNOMEDCT ID:233629001,,,idiopathic bronchiectasis,MONDO:0018956,,,,,, +BMGC_DS05714,BMG_DS015432,,UMLS ID:C0340014,,,,,congenital chylothorax,MONDO:0011331,,,,,,OMIM ID:603523 +BMGC_DS05715,BMG_DS015448,"Immotile cilia syndrome, due to defective radial spokes",UMLS ID:C0340035,,,,,ciliary dyskinesia with defective radial spokes,MONDO:0009449,,MeSH ID:C536286,,,,OMIM ID:242670 +BMGC_DS05716,BMG_DS015450,Young Syndrome,UMLS ID:C0340037,,,,,Young syndrome,MONDO:0010220,,MeSH ID:C536718,,,,OMIM ID:279000 +BMGC_DS05717,BMG_DS015451,Ciliary Discoordination Due To Random Ciliary Orientation,UMLS ID:C0340038,,,,,ciliary discoordination due to random ciliary orientation,MONDO:0008984,,MeSH ID:C562757,,,,OMIM ID:215518 +BMGC_DS05718,BMG_DS015455,Acute exacerbation of chronic obstructive pulmonary disease,UMLS ID:C0340044,Acute exacerbation of chronic obstructive airways disease | Acute exacerbation of chronic obstructive pulmonary disease | Acute exacerbation of COPD (chronic obstructive pulmonary disease) | Acute exacerbation of chronic obstructive pulmonary disease (disorder),SNOMEDCT ID:195951007,,,,,,,,,, +BMGC_DS05719,BMG_DS015469,Hyperreactive airway disease,UMLS ID:C0340062,Airway hyperreactivity | Asthmatic | Bronchial asthma | Bronchial hyperreactivity | BHR - Bronchial hyperreactivity | Bronchial hyperresponsiveness | Bronchial hypersensitivity | Asthma | Asthma (disorder) | Hyperreactive airway disease,SNOMEDCT ID:195967001,,,,,,,,,, +BMGC_DS05720,BMG_DS015491,Summer-Type Hypersensitivity Pneumonitis,UMLS ID:C0340092,,,,,,,Trichosporonosis,MeSH ID:D060586,trichosporonosis,DOID:0050290,, +BMGC_DS05721,BMG_DS015498,High altitude pulmonary edema,UMLS ID:C0340100,High altitude pulmonary oedema | Pulmonary edema of mountaineers | Pulmonary oedema of mountaineers | High altitude pulmonary edema | High altitude pulmonary edema (disorder),SNOMEDCT ID:233707008,,,high altitude pulmonary edema,MONDO:0031257,,,,,, +BMGC_DS05722,BMG_DS015517,Localized pulmonary fibrosis,UMLS ID:C0340127,Localised pulmonary fibrosis | Localized pulmonary fibrosis | Localized pulmonary fibrosis (disorder),SNOMEDCT ID:233726000,,,localized pulmonary fibrosis,MONDO:0003564,,,localized pulmonary fibrosis,DOID:5642,, +BMGC_DS05723,BMG_DS015555,Baritosis,UMLS ID:C0340177,Baritosis | Barium lung | Baryta miners' disease | Barium lung disease | Baritosis (disorder) | Barytosis | Barium pneumoconiosis,SNOMEDCT ID:50076003,,,baritosis,MONDO:0001001,,MeSH ID:C537080,baritosis,DOID:10321,, +BMGC_DS05724,BMG_DS015562,Mixed mineral dust pneumoconiosis,UMLS ID:C0340184,Mixed mineral dust pneumoconiosis | Mixed dust fibrosis | Mixed mineral dust pneumoconiosis (disorder),SNOMEDCT ID:233759002,,,mixed mineral dust pneumoconiosis,MONDO:0001000,,,mixed mineral dust pneumoconiosis,DOID:10319,, +BMGC_DS05725,BMG_DS015564,Schistosis,UMLS ID:C0340186,Schistosis | Slate-workers' lung | Slate workers pneumoconiosis | Slate pneumoconiosis | Schistosis (disorder),SNOMEDCT ID:1259003,,,slate pneumoconiosis,MONDO:0001004,,,slate pneumoconiosis,DOID:10330,, +BMGC_DS05726,BMG_DS015571,Hypoxemic Respiratory Failure,UMLS ID:C0340194,,,,,,,Respiratory Insufficiency,MeSH ID:D012131,,,, +BMGC_DS05727,BMG_DS015619,Ventricular hypertrophy,UMLS ID:C0340279,Ventricular hypertrophy | Ventricular hypertrophy (disorder) | Ventricular hypertrophy (& [left]) | Ventricular hypertrophy | Left ventricular hypertrophy | Ventricular hypertrophy (& [left]) (disorder) | (Cardiomegaly) or (ventricular hypertrophy (& left)) | Left ventricular hypertrophy | Ventricular hypertrophy | Cardiomegaly | (Cardiomegaly) or (ventricular hypertrophy (& left)) (disorder),SNOMEDCT ID:266249003 | SNOMEDCT ID:195127003 | SNOMEDCT ID:266310003 | SNOMEDCT ID:155383002,,,,,,,,,,OMIM ID:MTHU005304 +BMGC_DS05728,BMG_DS015623,Stable angina,UMLS ID:C0340288,Stable angina | Stable angina (disorder),SNOMEDCT ID:194838005 | SNOMEDCT ID:155312003 | SNOMEDCT ID:233819005,,,,,,,,,ICD10 ID:I20.89, +BMGC_DS05729,BMG_DS015634,Inferior Wall Myocardial Infarction,UMLS ID:C0340305,,,,,inferior myocardial infarction,MONDO:0006803,Inferior Wall Myocardial Infarction,MeSH ID:D056989,inferior myocardial infarction,DOID:5850,, +BMGC_DS05730,BMG_DS015641,,UMLS ID:C0340312,,,,,lateral myocardial infarction,MONDO:0003677,,,lateral myocardial infarction,DOID:5853,, +BMGC_DS05731,BMG_DS015648,,UMLS ID:C0340319,,,,,posterior myocardial infarction,MONDO:0003672,,,posterior myocardial infarction,DOID:5847,, +BMGC_DS05732,BMG_DS015649,Silent myocardial infarction,UMLS ID:C0340324,Coronary thrombosis | Thrombosis - coronary | Silent myocardial infarction | MI - Acute myocardial infarction | Heart attack | Cardiac rupture after acute myocardial infarction | Acute myocardial infarction | Attack - heart | Cardiac rupture following myocardial infarction (MI) | MI - acute myocardial infarction | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) | (Myocardial infarction (& [acute] or [silent] or [cardiac rupture following])) or (coronary thrombosis) (disorder) | Silent myocardial infarction | MI - Silent myocardial infarction | Silent myocardial infarction (disorder),SNOMEDCT ID:194796000 | SNOMEDCT ID:233843008,,,silent myocardial infarction,MONDO:0003678,,,silent myocardial infarction,DOID:5854,, +BMGC_DS05733,BMG_DS015662,Q fever endocarditis,UMLS ID:C0340354,Q fever endocarditis | Q fever endocarditis (disorder) | Cardiac Q fever | Endocarditis - Q fever,SNOMEDCT ID:95890006,,,,,,,,,, +BMGC_DS05734,BMG_DS015670,,UMLS ID:C0340364,,,,,familial mitral valve prolapse,MONDO:0008004,,,,,, +BMGC_DS05735,BMG_DS015678,Subaortic stenosis,UMLS ID:C0340375,Subaortic stenosis | Subaortic stenosis (disorder) | Subaortic stenosis | Subvalvular stenosis | Subvalvar stenosis | Subaortic stenosis (disorder),SNOMEDCT ID:250915007 | SNOMEDCT ID:204368006,,,subvalvular aortic stenosis,MONDO:0006987,,,subvalvular aortic stenosis,DOID:5805,,OMIM ID:MTHU017461 +BMGC_DS05736,BMG_DS015707,Familial dilated cardiomyopathy,UMLS ID:C0340427,Primary familial dilated cardiomyopathy | Primary familial dilated cardiomyopathy (disorder) | Familial dilated cardiomyopathy,SNOMEDCT ID:52029003,,,familial dilated cardiomyopathy,MONDO:0016333,,,,,, +BMGC_DS05737,BMG_DS015709,,UMLS ID:C0340429,,,,,familial restrictive cardiomyopathy,MONDO:0016340,,,,,, +BMGC_DS05738,BMG_DS015730,Premature Cardiac Complex,UMLS ID:C0340464,,,,,,,"Cardiac Complexes, Premature",MeSH ID:D005117,,,, +BMGC_DS05739,BMG_DS015744,Familial Polymorphic Ventricular Tachycardia,UMLS ID:C0340485,,,,,"ventricular tachycardia, familial",MONDO:0008648,Polymorphic Catecholaminergic Ventricular Tachycardia,MeSH ID:D000098850,,,,OMIM ID:192605 +BMGC_DS05740,BMG_DS015750,Familial sick sinus syndrome,UMLS ID:C0340491,Familial sick sinus syndrome | Familial sick sinus syndrome (disorder),SNOMEDCT ID:233913007,,,familial sick sinus syndrome,MONDO:0012061,,,,,, +BMGC_DS05741,BMG_DS015751,Paroxysmal familial ventricular fibrillation,UMLS ID:C0340493,Paroxysmal familial ventricular fibrillation | Paroxysmal familial ventricular fibrillation (disorder),SNOMEDCT ID:233915000,,,paroxysmal familial ventricular fibrillation,MONDO:0100234,,MeSH ID:C537182,,,, +BMGC_DS05742,BMG_DS015752,Other conduction disorders,UMLS ID:C0340494,Other conduction disorders | Other conduction disorders (disorder),SNOMEDCT ID:195062005,,,,,,,,,ICD10 ID:I45, +BMGC_DS05743,BMG_DS015755,"Bundle Branch Block, Familial Isolated Complete Right",UMLS ID:C0340504,,,,,"bundle branch block, familial isolated complete right",MONDO:0007241,,MeSH ID:C562759,,,,OMIM ID:113950 +BMGC_DS05744,BMG_DS015773,Familial primary pulmonary hypertension,UMLS ID:C0340543,Familial primary pulmonary hypertension | Familial primary pulmonary hypertension (disorder),SNOMEDCT ID:233944003,,,heritable pulmonary arterial hypertension,MONDO:0017148,,,,,, +BMGC_DS05745,BMG_DS015774,Pulmonary arterial hypertension induced by drug,UMLS ID:C0340544,Drug-induced pulmonary hypertension | Pulmonary arterial hypertension induced by drug | Pulmonary hypertension caused by drug (disorder) | Pulmonary arterial hypertension caused by drug | Pulmonary hypertension caused by drug,SNOMEDCT ID:233945002,,,drug- or toxin-induced pulmonary arterial hypertension,MONDO:0017149,,,,,, +BMGC_DS05746,BMG_DS015777,Pulmonary capillary hemangiomatosis,UMLS ID:C0340548,Pulmonary capillary haemangiomatosis | Pulmonary capillary hemangiomatosis | Pulmonary capillary hemangiomatosis (disorder),SNOMEDCT ID:233949008,,,,,,,,,,OMIM ID:MTHU041934 +BMGC_DS05747,BMG_DS015781,High altitude pulmonary hypertension,UMLS ID:C0340552,High altitude pulmonary hypertension | Pulmonary hypertension caused by low air pressure due to chronic exposure to high altitude | Pulmonary hypertension caused by low air pressure due to chronic exposure to high altitude (disorder),SNOMEDCT ID:233954004,,,"pulmonary edema of mountaineers, susceptibility to",MONDO:0008344,,MeSH ID:C535833,,,,OMIM ID:178400 +BMGC_DS05748,BMG_DS015791,Internal Carotid Artery Stenosis,UMLS ID:C0340569,,,,,internal carotid artery stenosis,MONDO:0005189,Carotid Stenosis,MeSH ID:D016893,,,, +BMGC_DS05749,BMG_DS015806,Thrombosis of renal artery,UMLS ID:C0340608,Thrombosis of renal artery | Renal artery thrombosis | Thrombosis of renal artery (disorder),SNOMEDCT ID:95579008,,,,,,,,,, +BMGC_DS05750,BMG_DS015813,Anterior Spinal Artery Dissection,UMLS ID:C0340642,,,,,,,Anterior Spinal Artery Syndrome,MeSH ID:D020759,,,, +BMGC_DS05751,BMG_DS015814,Dissection of aorta,UMLS ID:C0340643,Dissection of aorta | Dissection of aorta (disorder),SNOMEDCT ID:308546005,"Aortic aneurysm or dissection, unspecified",ICD11 ID:BD50.Z,,,,,,,ICD10 ID:I71.0, +BMGC_DS05752,BMG_DS015898,,UMLS ID:C0340803,,,,,capillary malformation,MONDO:0016231,,,,,, +BMGC_DS05753,BMG_DS015899,Hereditary vascular fragility,UMLS ID:C0340804,Capillary fragility - hereditary | Hereditary vascular fragility | Hereditary vascular fragility (disorder),SNOMEDCT ID:191329002,,,,,,,,,, +BMGC_DS05754,BMG_DS015900,,UMLS ID:C0340826,,,,,splenoportal vascular anomalies,MONDO:0010067,,,,,,OMIM ID:271500 +BMGC_DS05755,BMG_DS015901,Hennekam lymphangiectasia-lymphedema syndrome,UMLS ID:C0340834,"Hennekam lymphangiectasia-lymphoedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome | Hennekam lymphangiectasia-lymphedema syndrome (disorder) | Hennekam syndrome | Lymphoedema, lymphangiectasia, intellectual disability syndrome | Lymphedema, lymphangiectasia, intellectual disability syndrome",SNOMEDCT ID:234146006,,,Hennekam syndrome,MONDO:0016256,,,Hennekam syndrome,DOID:0060366,, +BMGC_DS05756,BMG_DS015903,"PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",UMLS ID:C0340848,,,,,pulmonary venoocclusive disease 2,MONDO:0009329,,,pulmonary venoocclusive disease 2,DOID:0081269,,OMIM ID:234810 +BMGC_DS05757,BMG_DS015907,"Syncope, Situational",UMLS ID:C0340854,,,,,,,Syncope,MeSH ID:D013575,,,, +BMGC_DS05758,BMG_DS015908,"Syncope, Micturition",UMLS ID:C0340855,,,,,,,Syncope,MeSH ID:D013575,,,, +BMGC_DS05759,BMG_DS015981,Deficiency of pyruvate kinase,UMLS ID:C0340968,Deficiency of phosphoenolpyruvate kinase | Deficiency of phosphoenol transphosphorylase | Deficiency of pyruvate kinase | Deficiency of pyruvate kinase (disorder) | PK - Pyruvate kinase deficiency | Pyruvate kinase deficiency,SNOMEDCT ID:124331002,,,pyruvate kinase deficiency of red cells,MONDO:0009950,,,,,,OMIM ID:266200 +BMGC_DS05760,BMG_DS015997,Odontoclasia,UMLS ID:C0341004,Odontoclasia | Odontoclasia (disorder),SNOMEDCT ID:196305005,,,odontoclasia,MONDO:0001349,,,odontoclasia,DOID:11736,, +BMGC_DS05761,BMG_DS016006,Streptococcal infection of mouth,UMLS ID:C0341016,Streptococcal infection of mouth | Streptococcal stomatitis | Streptococcal infection of mouth (disorder),SNOMEDCT ID:110267003,,,,,,,,,, +BMGC_DS05762,BMG_DS016013,Familial chronic mucocutaneous candidiasis,UMLS ID:C0341024,Familial chronic mucocutaneous candidiasis | FCMC - Familial chronic mucocutaneous candidosis | FCMC - Familial chronic mucocutaneous candidiasis | Familial chronic mucocutaneous candidosis | Familial chronic mucocutaneous candidiasis (disorder),SNOMEDCT ID:235073000,,,"candidiasis, familial, 4",MONDO:0013140,,MeSH ID:C537979,,,,OMIM ID:613108 +BMGC_DS05763,BMG_DS016038,Eosinophilic esophagitis,UMLS ID:C0341106,Eosinophilic esophagitis | Eosinophilic oesophagitis | Eosinophilic esophagitis (disorder),SNOMEDCT ID:235599003,,,eosinophilic esophagitis,MONDO:0005361,,,eosinophilic esophagitis,DOID:13922,ICD10 ID:K20.0,OMIM ID:MTHU054726 +BMGC_DS05764,BMG_DS016040,Bacterial esophagitis,UMLS ID:C0341108,Bacterial esophagitis | Bacterial oesophagitis | Bacterial esophagitis (disorder),SNOMEDCT ID:235601001,,,bacterial esophagitis,MONDO:0001832,,,bacterial esophagitis,DOID:13921,, +BMGC_DS05765,BMG_DS016041,Fungal esophagitis,UMLS ID:C0341109,Fungal oesophagitis | Fungal esophagitis | Fungal esophagitis (disorder),SNOMEDCT ID:235602008,,,fungal esophagitis,MONDO:0001649,,,fungal esophagitis,DOID:13147,, +BMGC_DS05766,BMG_DS016042,Viral esophagitis,UMLS ID:C0341110,Viral esophagitis | Viral oesophagitis | Viral esophagitis (disorder),SNOMEDCT ID:235603003,,,viral esophagitis,MONDO:0003846,,,viral esophagitis,DOID:6297,, +BMGC_DS05767,BMG_DS016065,"Esophageal Ring, Lower",UMLS ID:C0341137,,,,,"esophageal ring, lower",MONDO:0007577,,MeSH ID:C562765,,,,OMIM ID:133240 +BMGC_DS05768,BMG_DS016182,Microvillus inclusion disease,UMLS ID:C0341306,,,,,microvillus inclusion disease,MONDO:0009635,,MeSH ID:C537470,microvillus inclusion disease,DOID:0060775,,OMIM ID:251850 +BMGC_DS05769,BMG_DS016197,Indeterminate colitis,UMLS ID:C0341332,Indeterminate colitis | Indeterminate colitis (disorder),SNOMEDCT ID:235746007,Indeterminate colitis,ICD11 ID:DD72,indeterminate colitis,MONDO:0006038,,,,,ICD10 ID:K52.3, +BMGC_DS05770,BMG_DS016200,Cytomegalovirus Colitis,UMLS ID:C0341335,,,,,,,Cytomegalovirus Infections,MeSH ID:D003586,,,, +BMGC_DS05771,BMG_DS016274,,UMLS ID:C0341486,,,,,pancreatic cystadenoma,MONDO:0002809,,,pancreatic cystadenoma,DOID:3918,, +BMGC_DS05772,BMG_DS016284,Bacterial peritonitis,UMLS ID:C0341503,Bacterial peritonitis | Bacterial peritonitis (disorder),SNOMEDCT ID:197171003,,,septic peritonitis,MONDO:0005195,,,,,, +BMGC_DS05773,BMG_DS016299,Intestinal infection caused by Escherichia coli,UMLS ID:C0341558,Escherichia gastroenteritis | Enteric colibacillosis | Escherichia coli gastrointestinal tract infection | Intestinal infection caused by E. coli | Intestinal infection caused by Escherichia coli (disorder) | Intestinal infection caused by Escherichia coli,SNOMEDCT ID:111839008,,,,,,,,,, +BMGC_DS05774,BMG_DS016339,,UMLS ID:C0341677,,,,,impaired renal function disease,MONDO:0001343,,,,,, +BMGC_DS05775,BMG_DS016347,Acute diffuse nephritis,UMLS ID:C0341689,Acute diffuse nephritis | Acute diffuse nephritis (disorder),SNOMEDCT ID:197585004,,,acute diffuse glomerulonephritis,MONDO:0001871,,,acute diffuse nephritis,DOID:14066,, +BMGC_DS05776,BMG_DS016350,Acute proliferative glomerulonephritis,UMLS ID:C0341692,PGN - Acute proliferative glomerulonephritis | Acute proliferative glomerulonephritis | Acute proliferative glomerulonephritis (disorder),SNOMEDCT ID:197579006,,,acute proliferative glomerulonephritis,MONDO:0001644,,,acute proliferative glomerulonephritis,DOID:13138,, +BMGC_DS05777,BMG_DS016352,,UMLS ID:C0341694,,,,,chronic rapidly progressive glomerulonephritis,MONDO:0001184,,,chronic rapidly progressive glomerulonephritis,DOID:11036,, +BMGC_DS05778,BMG_DS016353,Atrophy of kidney,UMLS ID:C0341698,Atrophy of kidney | Atrophy of kidney (disorder) | Atrophy of kidney | Renal atrophy | Atrophy of kidney (disorder),SNOMEDCT ID:197676009 | SNOMEDCT ID:197659005,,,,,,,,,, +BMGC_DS05779,BMG_DS016356,Adult Fanconi syndrome,UMLS ID:C0341703,Adult Fanconi syndrome | Adult Fanconi syndrome (disorder),SNOMEDCT ID:236468006,,,adult Fanconi syndrome,MONDO:0060778,,,Fanconi syndrome,DOID:1062,, +BMGC_DS05780,BMG_DS016370,Detrusor and sphincter dyssynergia,UMLS ID:C0341747,Detrusor and sphincter dyssynergia | DSD - Detrusor and sphincter dyssynergia | Detrusor and sphincter dyssynergia (disorder),SNOMEDCT ID:236655005,,,detrusor sphincter dyssynergia,MONDO:0001447,,,detrusor sphincter dyssynergia,DOID:12145,, +BMGC_DS05781,BMG_DS016378,,UMLS ID:C0341766,,,,,paraurethral gland neoplasm,MONDO:0002219,,,paraurethral gland neoplasm,DOID:2139,, +BMGC_DS05782,BMG_DS016379,,UMLS ID:C0341767,,,,,seminal vesicle tumor,MONDO:0002790,,,seminal vesicle tumor,DOID:3855,, +BMGC_DS05783,BMG_DS016386,Chlamydial epididymitis,UMLS ID:C0341779,Chlamydial epididymitis | Chlamydial epididymitis (disorder),SNOMEDCT ID:197997008 | SNOMEDCT ID:236767000,,,,,,,,,ICD10 ID:A56.19, +BMGC_DS05784,BMG_DS016390,,UMLS ID:C0341790,,,,,scrotum neoplasm,MONDO:0003319,,,scrotum neoplasm,DOID:518,, +BMGC_DS05785,BMG_DS016406,,UMLS ID:C0341823,,,,,ovarian epithelial tumor,MONDO:0002229,,,ovary epithelial cancer,DOID:2152,, +BMGC_DS05786,BMG_DS016421,Endometriosis of uterus,UMLS ID:C0341858,Endometriosis of uterus | Endometriosis of uterus (disorder),SNOMEDCT ID:76376003,Adenomyosis,ICD11 ID:GA11,,,,,endometriosis of uterus,DOID:288,ICD10 ID:N80.0, +BMGC_DS05787,BMG_DS016427,"Subfertility, Female",UMLS ID:C0341869,,,,,,,"Infertility, Female",MeSH ID:D007247,,,, +BMGC_DS05788,BMG_DS016464,,UMLS ID:C0341950,,,,,severe pre-eclampsia,MONDO:0001641,,,,,, +BMGC_DS05789,BMG_DS016537,Toxic nodular goiter,UMLS ID:C0342127,Toxic nodular goiter | Toxic adenomatous goiter | Toxic struma nodosa | Plummer's disease | Toxic nodular goitre | Toxic adenomatous goitre | Toxic nodular goiter (disorder),SNOMEDCT ID:57777000,,,Plummer disease,MONDO:0001252,,,Plummer's disease,DOID:11277,, +BMGC_DS05790,BMG_DS016556,Congenital hypothyroidism without goiter,UMLS ID:C0342151,Congenital hypothyroidism without goiter | Congenital hypothyroidism without goitre | Congenital hypothyroidism without goitre (disorder) | Congenital hypothyroidism without goitre | Congenital hypothyroidism without goiter | Congenital hypothyroidism without goiter (disorder),SNOMEDCT ID:190272004 | SNOMEDCT ID:237515009,Permanent congenital hypothyroidism without goitre,ICD11 ID:5A00.01,,,,,congenital nongoitrous hypothyroidism 2 | congenital nongoitrous hypothyroidism 5 | congenital nongoitrous hypothyroidism 1 | congenital nongoitrous hypothyroidism 3 | congenital nongoitrous hypothyroidism 6 | congenital nongoitrous hypothyroidism 4 | IGSF1 deficiency syndrome,DOID:0070124;DOID:0111140;DOID:0070126;DOID:0070128;DOID:0070125;DOID:0070123;DOID:0070127,ICD10 ID:E03.1, +BMGC_DS05791,BMG_DS016559,"Hypothyroidism, Autoimmune",UMLS ID:C0342158,,,,,,,,MeSH ID:C562768,,,, +BMGC_DS05792,BMG_DS016577,"Hyperthyroxinemia, Familial Dysalbuminemic",UMLS ID:C0342185,,,,,"hyperthyroxinemia, familial dysalbuminemic",MONDO:0014448,"Hyperthyroxinemia, Familial Dysalbuminemic",MeSH ID:D050010,,,,OMIM ID:615999 +BMGC_DS05793,BMG_DS016580,C-cell hyperplasia of thyroid,UMLS ID:C0342190,C-cell hyperplasia of thyroid | C-cell hyperplasia of thyroid (disorder),SNOMEDCT ID:237552009,Hypersecretion of calcitonin,ICD11 ID:5A04,C-cell hyperplasia,MONDO:0006120,,,,,ICD10 ID:E07.0, +BMGC_DS05794,BMG_DS016584,Thyroid Dyshormonogenesis 3,UMLS ID:C0342194,,,,,thyroid dyshormonogenesis 3,MONDO:0010135,,MeSH ID:C562769,thyroid dyshormonogenesis 3,DOID:0112187,,OMIM ID:274700 +BMGC_DS05795,BMG_DS016585,Thyroid Dyshormonogenesis 4,UMLS ID:C0342195,,,,,thyroid dyshormonogenesis 4,MONDO:0010136,,MeSH ID:C562770,thyroid dyshormonogenesis 4,DOID:0112188,,OMIM ID:274800 +BMGC_DS05796,BMG_DS016586,Thyroid Dyshormonogenesis 5,UMLS ID:C0342196,,,,,thyroid dyshormonogenesis 5,MONDO:0010137,,MeSH ID:C562771,thyroid dyshormonogenesis 5,DOID:0112184,,OMIM ID:274900 +BMGC_DS05797,BMG_DS016588,Iodine deficiency syndrome,UMLS ID:C0342199,Iodine deficiency syndrome | Iodine deficiency syndrome (disorder),SNOMEDCT ID:237562002,,,,,,,,,, +BMGC_DS05798,BMG_DS016589,Endemic Cretinism,UMLS ID:C0342200,,,,,,,Congenital Hypothyroidism,MeSH ID:D003409,congenital hypothyroidism,DOID:0050328,, +BMGC_DS05799,BMG_DS016610,Complications of Diabetes Mellitus,UMLS ID:C0342257,,,,,,,Diabetes Complications,MeSH ID:D048909,,,, +BMGC_DS05800,BMG_DS016620,Transitory neonatal diabetes mellitus,UMLS ID:C0342273,Transitory neonatal diabetes mellitus | Transitory neonatal diabetes mellitus (disorder) | Transient neonatal diabetes mellitus,SNOMEDCT ID:237603002,,,transient neonatal diabetes mellitus,MONDO:0020525,,,,,, +BMGC_DS05801,BMG_DS016622,Maturity onset diabetes mellitus in young,UMLS ID:C0342276,Maturity onset diabetes mellitus in young | MODY | Autosomal dominant diabetes mellitus | NIDDY | Diabetes mellitus autosomal dominant | MODY - Maturity onset diabetes in youth type 1 | MODY - Maturity onset diabetes in youth type I | Mason-type diabetes | Maturity onset diabetes in youth | Maturity onset diabetes mellitus in young (disorder) | Maturity onset diabetes in youth type 1 | Maturity onset diabetes mellitus in young (disorder) | Maturity onset diabetes mellitus in young,SNOMEDCT ID:28453007 | SNOMEDCT ID:400971001,,,maturity-onset diabetes of the young,MONDO:0018911,,,,,,OMIM ID:606391 +BMGC_DS05802,BMG_DS016623,Diabetes mellitus autosomal dominant type II (disorder),UMLS ID:C0342277,"Diabetes mellitus autosomal dominant type II | Maturity onset diabetes in youth type II | Maturity onset diabetes in youth type 2 | Maturity onset diabetes of the young, type 2 (disorder) | Maturity onset diabetes of the young, type 2 | GCK (glucokinase) monogenic diabetes mellitus | MODY2 (maturity onset diabetes of the young type 2)",SNOMEDCT ID:237604008,,,maturity-onset diabetes of the young type 2,MONDO:0007453,,,,,,OMIM ID:125851 +BMGC_DS05803,BMG_DS016624,Hereditary benign acanthosis nigricans with insulin resistance,UMLS ID:C0342278,Hereditary benign acanthosis nigricans with insulin resistance | Insulin-resistant acanthosis nigricans type A | Insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans | Hereditary benign acanthosis nigricans with insulin resistance (disorder),SNOMEDCT ID:237606005,,,insulin-resistance syndrome type A,MONDO:0012520,,,,,,OMIM ID:610549 +BMGC_DS05804,BMG_DS016625,AREDYLD Syndrome,UMLS ID:C0342280,,,,,AREDYLD syndrome,MONDO:0008812,,MeSH ID:C537427,,,,OMIM ID:207780 +BMGC_DS05805,BMG_DS016626,"Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus",UMLS ID:C0342281,,,,,muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,MONDO:0008023,,MeSH ID:C562774,,,,OMIM ID:158500 +BMGC_DS05806,BMG_DS016627,Multiple synostoses syndrome 1,UMLS ID:C0342282,,,,,multiple synostoses syndrome 1,MONDO:0008519,,MeSH ID:C536943,,,,OMIM ID:186500 +BMGC_DS05807,BMG_DS016628,Hyperproinsulinemia,UMLS ID:C0342283,Hyperproinsulinaemia | Hyperproinsulinemia | Hyperproinsulinemia (disorder),SNOMEDCT ID:237613005,,,hyperproinsulinemia,MONDO:0014535,,MeSH ID:C562776,,,,OMIM ID:MTHU069939 | OMIM ID:616214 +BMGC_DS05808,BMG_DS016629,Bangstad syndrome,UMLS ID:C0342284,"Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency | Bangstad syndrome | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goitre, and primary gonadal insufficiency | Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (disorder)",SNOMEDCT ID:237614004,,,Bangstad syndrome,MONDO:0008874,,MeSH ID:C537902,,,,OMIM ID:210740 +BMGC_DS05809,BMG_DS016630,Woodhouse Sakati syndrome,UMLS ID:C0342286,"Diabetes, hypogonadism, deafness, intellectual disability syndrome | Woodhouse Sakati syndrome | Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)",SNOMEDCT ID:816067005,,,Woodhouse-Sakati syndrome,MONDO:0009419,,MeSH ID:C536742,Woodhouse-Sakati syndrome,DOID:0112264,,OMIM ID:241080 +BMGC_DS05810,BMG_DS016631,,UMLS ID:C0342287,,,,,thiamine-responsive megaloblastic anemia syndrome,MONDO:0009575,,,thiamine-responsive megaloblastic anemia syndrome,DOID:0090117,,OMIM ID:249270 +BMGC_DS05811,BMG_DS016632,Insulin-dependent diabetes mellitus secretory diarrhea syndrome,UMLS ID:C0342288,Insulin-dependent diabetes mellitus secretory diarrhoea syndrome | Congenital insulin-dependent diabetes mellitus with fatal secretory diarrhea | Congenital insulin-dependent diabetes mellitus with fatal secretory diarrhoea | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Insulin-dependent diabetes mellitus secretory diarrhea syndrome (disorder),SNOMEDCT ID:237618001,,,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,MONDO:0010580,,,,,,OMIM ID:304790 +BMGC_DS05812,BMG_DS016633,Diabetes-deafness syndrome maternally transmitted,UMLS ID:C0342289,Ballinger-Wallace syndrome | Diabetes-deafness syndrome maternally transmitted | Maternally inherited diabetes and deafness (disorder) | Maternally inherited diabetes and deafness | MIDD - maternally inherited diabetes and deafness | Maternally-inherited diabetes and hearing loss | Mitochondrial diabetes,SNOMEDCT ID:237619009,,,maternally-inherited diabetes and deafness,MONDO:0010785,,,,,,OMIM ID:520000 +BMGC_DS05813,BMG_DS016650,Hypoglycemia due to diabetes mellitus,UMLS ID:C0342313,Hypoglycemic state in diabetes | Hypoglycaemic state in diabetes | Hypoglycemic state due to diabetes mellitus | Hypoglycaemic state due to diabetes mellitus | Hypoglycaemia due to diabetes mellitus | Hypoglycemia due to diabetes mellitus | Hypoglycemia due to diabetes mellitus (disorder),SNOMEDCT ID:237633009,,,,,,,,,, +BMGC_DS05814,BMG_DS016663,Insulin resistance - type A,UMLS ID:C0342336,Insulin resistance - type A | Insulin resistance - type A (disorder) | Type A insulin resistance,SNOMEDCT ID:237651005,,,,,,,,,, +BMGC_DS05815,BMG_DS016668,Idiopathic Hypoparathyroidism,UMLS ID:C0342342,,,,,,,Hypoparathyroidism,MeSH ID:D007011,,,, +BMGC_DS05816,BMG_DS016669,Hypoparathyroidism - X-linked,UMLS ID:C0342344,Hypoparathyroidism - X-linked | X-linked hypoparathyroidism (disorder) | X-linked hypoparathyroidism,SNOMEDCT ID:237655001,,,familial isolated hypoparathyroidism due to agenesis of parathyroid gland,MONDO:0010618,,,,,,OMIM ID:307700 +BMGC_DS05817,BMG_DS016670,Hypoparathyroidism - autosomal dominant,UMLS ID:C0342345,Hypoparathyroidism - autosomal dominant | Hypoparathyroidism - autosomal dominant (disorder),SNOMEDCT ID:237657009,,,autosomal dominant hypocalcemia 1,MONDO:0011013,,,,,,OMIM ID:601198 +BMGC_DS05818,BMG_DS016680,Panhypopituitarism - X-linked,UMLS ID:C0342376,Panhypopituitarism - X-linked | X-linked panhypopituitarism (disorder) | X-linked panhypopituitarism,SNOMEDCT ID:237683004,,,"panhypopituitarism, X-linked",MONDO:0010712,,,,,,OMIM ID:312000 +BMGC_DS05819,BMG_DS016683,Idiopathic growth hormone deficiency,UMLS ID:C0342381,Idiopathic growth hormone insufficiency | IGHD - Idiopathic growth hormone deficiency | Idiopathic growth hormone deficiency | Idiopathic growth hormone deficiency (disorder),SNOMEDCT ID:237688008,Hypopituitarism,ICD11 ID:5A61.0,,,,,hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IB | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type III | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090072;DOID:0090087;DOID:0060875;DOID:0090073;DOID:0090076;DOID:0090092;DOID:0060873;DOID:0090080;DOID:0090075;DOID:0090077;DOID:0090071;DOID:0090082;DOID:0090084;DOID:0090074;DOID:0090093;DOID:0060874;DOID:0090078;DOID:0090070;DOID:0090085;DOID:0090094;DOID:0090086;DOID:0090083;DOID:0090081;DOID:0090079;DOID:0090089;DOID:0090090,ICD10 ID:E23.0, +BMGC_DS05820,BMG_DS016685,Idiopathic hypogonadotropic hypogonadism,UMLS ID:C0342384,Idiopathic hypogonadotropic hypogonadism | Idiopathic gonadotrophin deficiency | Idiopathic hypogonadotropic hypogonadism (disorder),SNOMEDCT ID:123953004,,,hypogonadotropic hypogonadism 7 with or without anosmia,MONDO:0007794,,,,,,OMIM ID:146110 +BMGC_DS05821,BMG_DS016688,Adrenocorticotropic hormone (ACTH) deficiency (disorder),UMLS ID:C0342388,Secondary hypoadrenalism | ACTH deficiency | Adrenocorticotropic hormone (ACTH) deficiency | Adrenocorticotropic hormone deficiency (disorder) | Adrenocorticotropic hormone deficiency,SNOMEDCT ID:237692001,,,congenital isolated adrenocorticotropic hormone deficiency,MONDO:0008720,,,,,,OMIM ID:201400 +BMGC_DS05822,BMG_DS016689,Familial vasopressin deficiency,UMLS ID:C0342394,Familial central diabetes insipidus | Familial vasopressin deficiency | Familial arginine vasopressin deficiency (disorder) | Familial AVP-D (arginine vasopressin deficiency) | Familial arginine vasopressin deficiency,SNOMEDCT ID:237696003,,,neurohypophyseal diabetes insipidus,MONDO:0007450,,,,,,OMIM ID:125700 +BMGC_DS05823,BMG_DS016698,Pituitary infarction,UMLS ID:C0342405,Pituitary infarction | Pituitary infarct | Pituitary infarction (disorder),SNOMEDCT ID:95830009,,,pituitary gland infarction,MONDO:0001259,,,pituitary infarct,DOID:1130,, +BMGC_DS05824,BMG_DS016707,,UMLS ID:C0342418,,,,,congenital hypothalamic hamartoma syndrome,MONDO:0009436,,,,,,OMIM ID:241800 +BMGC_DS05825,BMG_DS016734,3 beta-Hydroxysteroid dehydrogenase deficiency,UMLS ID:C0342471,"3 beta-Hydroxysteroid dehydrogenase deficiency | 3 beta-HSD deficiency | Congenital adrenal hyperplasia, type 4 | CAH - 3 beta-dehydrogenase deficiency | 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder)",SNOMEDCT ID:54470008,,,congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,MONDO:0008727,,,,,,OMIM ID:201810 +BMGC_DS05826,BMG_DS016735,17 alpha-Hydroxyprogesterone aldolase deficiency,UMLS ID:C0342473,"17 alpha-Hydroxyprogesterone aldolase deficiency | Steroid 17,20-lyase deficiency | Male pseudohermaphroditism due to testicular 17,20-desmolase deficiency | Defective synthesis of 17-20 desmolase | 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder)",SNOMEDCT ID:49013001,,,,,,,,,, +BMGC_DS05827,BMG_DS016736,Lipoid congenital adrenal hyperplasia,UMLS ID:C0342474,,,,,congenital lipoid adrenal hyperplasia due to STAR deficency,MONDO:0008725,,MeSH ID:C537027,,,,OMIM ID:201710 +BMGC_DS05828,BMG_DS016740,X-linked Adrenal Hypoplasia,UMLS ID:C0342482,,,,,X-linked adrenal hypoplasia congenita,MONDO:0010264,"Hypoadrenocorticism, Familial",MeSH ID:D000075262,,,,OMIM ID:300200 +BMGC_DS05829,BMG_DS016743,"Mineralocorticoid Excess Syndrome, Apparent",UMLS ID:C0342488,,,,,apparent mineralocorticoid excess,MONDO:0009025,"Mineralocorticoid Excess Syndrome, Apparent",MeSH ID:D043204,apparent mineralocorticoid excess syndrome,DOID:4367,,OMIM ID:218030 +BMGC_DS05830,BMG_DS016747,Macronodular adrenal hyperplasia,UMLS ID:C0342495,Macronodular adrenal hyperplasia | Macronodular adrenal hyperplasia (disorder),SNOMEDCT ID:237778003,,,,,,,,,,OMIM ID:MTHU020776 +BMGC_DS05831,BMG_DS016766,Deficiency of testosterone biosynthesis,UMLS ID:C0342527,Deficiency of testosterone biosynthesis | Androgen deficiency | Defective biosynthesis of testicular androgen | Defect of testicular androgen synthesis | Deficiency of testosterone biosynthesis (disorder),SNOMEDCT ID:38825009,,,,,,,,,, +BMGC_DS05832,BMG_DS016777,Central Precocious Puberty,UMLS ID:C0342543,,,,,central precocious puberty,MONDO:0019165,"Puberty, Precocious",MeSH ID:D011629,central precocious puberty,DOID:0112308,, +BMGC_DS05833,BMG_DS016781,Familial Testotoxicosis,UMLS ID:C0342549,,,,,familial male-limited precocious puberty,MONDO:0008303,,MeSH ID:C536961,familial male-limited precocious puberty,DOID:0111545,,OMIM ID:176410 +BMGC_DS05834,BMG_DS016788,Carcinoid crisis,UMLS ID:C0342569,Carcinoid crisis | Carcinoid crisis (disorder),SNOMEDCT ID:237833006,,,carcinoid crisis,MONDO:0041167,,,,,, +BMGC_DS05835,BMG_DS016790,,UMLS ID:C0342573,,,,,isolated growth hormone deficiency type IA,MONDO:0009876,,,,,,OMIM ID:262400 +BMGC_DS05836,BMG_DS016799,"Amyloid Polyneuropathy, British Type",UMLS ID:C0342608,,,,,,,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS05837,BMG_DS016801,Familial non-neuropathic amyloidosis,UMLS ID:C0342611,Familial non-neuropathic amyloidosis | Familial non-neuropathic amyloidosis (disorder) | Nonneuropathic heredofamilial amyloidosis,SNOMEDCT ID:237868006,,,,,,,,,, +BMGC_DS05838,BMG_DS016812,Neonatal hypocalcemia,UMLS ID:C0342634,Neonatal hypocalcaemia | Neonatal hypocalcemia | Neonatal hypocalcaemia (disorder) | Cow's milk hypocalcaemia | Neonatal hypocalcaemia | (Hypocalcaemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) | Cow's milk hypocalcemia | Neonatal hypocalcemia | Neonatal hypoparathroidism | (Hypocalcemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) | (Hypocalcaemia: [neonatal] or [cow's milk]) or (neonatal hypoparathroidism) (disorder) | Neonatal hypocalcaemia | Neonatal hypocalcemia | Neonatal hypocalcemia (disorder),SNOMEDCT ID:157145008 | SNOMEDCT ID:206482007 | SNOMEDCT ID:268846006,,,,,,,,,,OMIM ID:MTHU015276 +BMGC_DS05839,BMG_DS016815,"Hypocalciuric hypercalcemia, familial, type 1",UMLS ID:C0342637,,,,,familial hypocalciuric hypercalcemia 1,MONDO:0007791,,MeSH ID:C537145,,,,OMIM ID:145980 +BMGC_DS05840,BMG_DS016817,,UMLS ID:C0342639,,,,,"hypercalciuria, absorptive, 2",MONDO:0007748,,,,,,OMIM ID:143870 +BMGC_DS05841,BMG_DS016819,Autosomal dominant hypophosphatemic rickets,UMLS ID:C0342642,Autosomal dominant hypophosphatemic rickets | Autosomal dominant hypophosphataemic rickets | Autosomal dominant hypophosphatemic rickets (disorder),SNOMEDCT ID:237889002,,,autosomal dominant hypophosphatemic rickets,MONDO:0008660,,,,,,OMIM ID:193100 +BMGC_DS05842,BMG_DS016820,Autosomal recessive hypophosphatemic vitamin D refractory rickets,UMLS ID:C0342643,Autosomal recessive hypophosphatemic vitamin D refractory rickets | Autosomal recessive hypophosphataemic vitamin D refractory rickets | Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) | Autosomal recessive hypophosphataemic rickets | Autosomal recessive hypophosphatemic rickets,SNOMEDCT ID:90505000,,,autosomal recessive hypophosphatemic rickets,MONDO:0017324,,,,,, +BMGC_DS05843,BMG_DS016821,"Vitamin D-Dependent Rickets, Type 2A",UMLS ID:C0342646,,,,,"vitamin D-dependent rickets, type 2A",MONDO:0010186,,MeSH ID:C562794,,,,OMIM ID:277440 +BMGC_DS05844,BMG_DS016823,Vascular calcification,UMLS ID:C0342649,"Vascular calcification | Vascular calcification (disorder) | Vascular calcification, radiographic finding | Radiographic finding of vascular calcification (finding) | Radiographic finding of vascular calcification",SNOMEDCT ID:237897009 | SNOMEDCT ID:129759000,,,,,,,,,, +BMGC_DS05845,BMG_DS016838,"ALBINISM, OCULOCUTANEOUS, TYPE III",UMLS ID:C0342683,,,,,oculocutaneous albinism type 3,MONDO:0008747,,,oculocutaneous albinism type III,DOID:0070097,,OMIM ID:115501 | OMIM ID:278400 | OMIM ID:203290 | OMIM ID:203290 +BMGC_DS05846,BMG_DS016839,"Ocular albinism, type I",UMLS ID:C0342684,"X-linked ocular albinism, Nettleship type | Nettleship-Falls type ocular albinism | Ocular albinism, type I | Ocular albinism, type I (disorder) | OA1 - X-linked ocular albinism | X-linked ocular albinism | X-linked recessive ocular albinism | X linked ocular albinism",SNOMEDCT ID:78642008,,,X-linked recessive ocular albinism,MONDO:0021019,,,,,,OMIM ID:300500 +BMGC_DS05847,BMG_DS016842,dopamine beta hydroxylase deficiency,UMLS ID:C0342687,,,,,,,,MeSH ID:C535600,dopamine beta-hydroxylase deficiency,DOID:0090145,, +BMGC_DS05848,BMG_DS016849,Transcobalamin I Deficiency,UMLS ID:C0342700,,,,,transcobalamin I deficiency,MONDO:0008659,,MeSH ID:C562798,,,,OMIM ID:193090 +BMGC_DS05849,BMG_DS016850,Transcobalamin II deficiency,UMLS ID:C0342701,Transcobalamin II deficiency | Transcobalamin II deficiency (disorder) | TCN2 - Transcobalamin II deficiency | Transcobalamin II deficiency | Transcobalamin II deficiency (disorder),SNOMEDCT ID:191143002 | SNOMEDCT ID:237934001,Hereditary vitamin B12 deficiency anaemia,ICD11 ID:3A01.0,transcobalamin II deficiency,MONDO:0010149,,,,,ICD10 ID:D51.2,OMIM ID:MTHU008999 | OMIM ID:275350 +BMGC_DS05850,BMG_DS016854,"Folate Malabsorption, Hereditary",UMLS ID:C0342705,,,,,hereditary folate malabsorption,MONDO:0009238,,MeSH ID:C562799,hereditary folate malabsorption,DOID:0111678,,OMIM ID:229050 +BMGC_DS05851,BMG_DS016856,Gamma aminobutyric acid transaminase deficiency,UMLS ID:C0342708,,,,,GABA aminotransaminase deficiency,MONDO:0013166,,MeSH ID:C535407,,,,OMIM ID:613163 +BMGC_DS05852,BMG_DS016864,Complete deficiency of methylmalonyl-CoA mutase,UMLS ID:C0342718,Mutase0 methylmalonic acidemia | Complete deficiency of methylmalonyl-CoA mutase | Mutase0 methylmalonic acidaemia | Complete deficiency of methylmalonyl-coenzyme A mutase (disorder) | Complete deficiency of methylmalonyl-coenzyme A mutase | Vitamin B12-unresponsive methylmalonic acidaemia type mut0 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | MMUT-gene related complete deficiency of methylmalonyl-coenzyme A mutase | Vitamin B12-unresponsive methylmalonic aciduria type mut0,SNOMEDCT ID:237945003,,,vitamin B12-unresponsive methylmalonic acidemia type mut0,MONDO:0017360,,,,,, +BMGC_DS05853,BMG_DS016865,Partial deficiency of methylmalonyl-CoA mutase,UMLS ID:C0342719,Partial deficiency of methylmalonyl-CoA mutase | Mutase- methylmalonic acidaemia | Mutase- methylmalonic acidemia | Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) | Partial deficiency of methylmalonyl-coenzyme A mutase | Vitamin B12-unresponsive methylmalonic acidaemia type mut- | Vitamin B12-unresponsive methylmalonic acidemia type mut- | MMUT-gene related partial deficiency of methylmalonyl-coenzyme A mutase,SNOMEDCT ID:237946002,,,vitamin B12-unresponsive methylmalonic acidemia type mut-,MONDO:0019267,,,,,, +BMGC_DS05854,BMG_DS016870,"3-@METHYLGLUTACONIC ACIDURIA, TYPE I",UMLS ID:C0342727,,,,,3-methylglutaconic aciduria type 1,MONDO:0009610,,,,,,OMIM ID:600529 | OMIM ID:250950 +BMGC_DS05855,BMG_DS016872,Deficiency of mevalonate kinase,UMLS ID:C0342731,Deficiency of mevalonate kinase | Deficiency of mevalonate kinase (disorder) | Mevalonate kinase deficiency,SNOMEDCT ID:124327008,,,mevalonate kinase deficiency,MONDO:0017708,,,mevalonic aciduria,DOID:0050452,, +BMGC_DS05856,BMG_DS016874,Cytosolic acetoacetyl-CoA thiolase deficiency,UMLS ID:C0342735,Cytosolic acetoacetyl-CoA thiolase deficiency | Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder) | Cytosolic acetoacetyl-coenzyme A thiolase deficiency,SNOMEDCT ID:237955004,,,acetyl-CoA acetyltransferase-2 deficiency,MONDO:0013548,,MeSH ID:C536005,,,,OMIM ID:614055 +BMGC_DS05857,BMG_DS016875,3-Hydroxyisobutyric aciduria,UMLS ID:C0342737,3-Hydroxyisobutyric aciduria | 3-Hydroxyisobutyric aciduria (disorder),SNOMEDCT ID:237957007,,,3-hydroxyisobutyric aciduria,MONDO:0009371,,MeSH ID:C535312,,,,OMIM ID:236795 +BMGC_DS05858,BMG_DS016876,Beta-Hydroxyisobutyryl CoA Deacylase Deficiency,UMLS ID:C0342738,,,,,3-hydroxyisobutyryl-CoA hydrolase deficiency,MONDO:0009603,,MeSH ID:C562803,,,,OMIM ID:250620 +BMGC_DS05859,BMG_DS016877,Trimethylaminuria,UMLS ID:C0342739,Trimethylaminuria | Fish odour syndrome | Fish odor syndrome | Trimethylaminuria (disorder),SNOMEDCT ID:237959005,,,trimethylaminuria,MONDO:0011182,,MeSH ID:C536561,trimethylaminuria,DOID:0080361,ICD10 ID:E72.52,OMIM ID:MTHU054300 +BMGC_DS05860,BMG_DS016884,GLYCOGEN STORAGE DISEASE Ic,UMLS ID:C0342749,,,,,,,,,glycogen storage disease Ic,DOID:0081331,,OMIM ID:232240 | OMIM ID:602671 +BMGC_DS05861,BMG_DS016886,Generalized glycogen storage disease of infants,UMLS ID:C0342751,"Glycogen storage disease, type II | Glycogen storage disease, type II (disorder)",SNOMEDCT ID:76219003,,,,,,,,,, +BMGC_DS05862,BMG_DS016888,Glycogen storage disease type II late onset,UMLS ID:C0342753,"Glycogen storage disease type II late onset | Glycogen storage disease due to acid maltase deficiency, late-onset | Alpha-1,4-glucosidase acid deficiency, late onset | Glycogenosis type II, late onset | Pompe disease, late onset | Glycogen storage disease due to acid maltase deficiency, late-onset (disorder)",SNOMEDCT ID:722343009,,,"glycogen storage disease due to acid maltase deficiency, late-onset",MONDO:0018485,,,,,, +BMGC_DS05863,BMG_DS016898,D-Glyceric aciduria,UMLS ID:C0342765,D-Glyceric aciduria | D-Glyceric aciduria (disorder),SNOMEDCT ID:237980004,,,D-glyceric aciduria,MONDO:0009070,,,,,,OMIM ID:220120 +BMGC_DS05864,BMG_DS016901,Fumarase deficiency,UMLS ID:C0342770,Fumarase deficiency | Fumarate hydratase deficiency | Fumarate hydratase deficiency (disorder),SNOMEDCT ID:237983002,,,fumaric aciduria,MONDO:0011730,,MeSH ID:C538191,fumarase deficiency,DOID:0111261,,OMIM ID:606812 +BMGC_DS05865,BMG_DS016907,Depletion of mitochondrial DNA,UMLS ID:C0342782,Depletion of mitochondrial DNA | Depletion of mitochondrial deoxyribonucleic acid | Depletion of mitochondrial deoxyribonucleic acid (disorder),SNOMEDCT ID:237995002,,,mitochondrial DNA depletion syndrome,MONDO:0018158,,,,,, +BMGC_DS05866,BMG_DS016908,Deficiency of butyryl-CoA dehydrogenase,UMLS ID:C0342783,Deficiency of unsaturated acyl-CoA reductase | Deficiency of butyryl dehydrogenase | Deficiency of butyryl-CoA dehydrogenase | Butyryl-CoA dehydrogenase deficiency | Deficiency of butyryl-CoA dehydrogenase (disorder),SNOMEDCT ID:124166007,,,short chain acyl-CoA dehydrogenase deficiency,MONDO:0008722,,,,,,OMIM ID:201470 +BMGC_DS05867,BMG_DS016909,Pearson's marrow-pancreas syndrome,UMLS ID:C0342784,,,,,Pearson syndrome,MONDO:0010797,,MeSH ID:C536353,,,,OMIM ID:557000 +BMGC_DS05868,BMG_DS016912,Renal carnitine transport defect,UMLS ID:C0342788,Renal carnitine transport defect | Systemic carnitine deficiency | Carnitine transporter deficiency | Carnitine uptake defect | Primary carnitine deficiency | Renal carnitine transport defect (disorder),SNOMEDCT ID:21764004,,,systemic primary carnitine deficiency disease,MONDO:0008919,,,systemic primary carnitine deficiency disease,DOID:14365,,OMIM ID:212140 +BMGC_DS05869,BMG_DS016913,Carnitine palmitoyl transferase 2 deficiency,UMLS ID:C0342790,,,,,carnitine palmitoyltransferase II deficiency,MONDO:0015515,,MeSH ID:C535589,carnitine palmitoyltransferase II deficiency,DOID:0060235,, +BMGC_DS05870,BMG_DS016914,Carnitine-Acylcarnitine Translocase Deficiency,UMLS ID:C0342791,,,,,carnitine-acylcarnitine translocase deficiency,MONDO:0008918,,MeSH ID:C562812,carnitine-acylcarnitine translocase deficiency,DOID:0111585,,OMIM ID:212138 +BMGC_DS05871,BMG_DS016915,Succinyl-CoA:3-oxoacid CoA transferase deficiency,UMLS ID:C0342792,,,,,succinyl-CoA:3-ketoacid CoA transferase deficiency,MONDO:0009492,,MeSH ID:C537527,,,,OMIM ID:245050 +BMGC_DS05872,BMG_DS016916,Malonic aciduria,UMLS ID:C0342793,Malonic aciduria | Malonic aciduria (disorder) | MLYCD-gene related malonic aciduria,SNOMEDCT ID:361203007,,,malonic aciduria,MONDO:0009556,,MeSH ID:C535702,,,,OMIM ID:248360 +BMGC_DS05873,BMG_DS016919,Inosine Triphosphatase Deficiency,UMLS ID:C0342800,,,,,inosine triphosphatase deficiency,MONDO:0013461,,MeSH ID:C564127,,,,OMIM ID:613850 +BMGC_DS05874,BMG_DS016920,Thiopurine S methyltranferase deficiency,UMLS ID:C0342801,,,,,thiopurine S-methyltransferase deficiency,MONDO:0012503,,MeSH ID:C536512,poor metabolism of thiopurines,DOID:0080172,,OMIM ID:610460 +BMGC_DS05875,BMG_DS016922,Dihydropyrimidinase deficiency,UMLS ID:C0342803,Dihydrouracil amidohydrolase deficiency | Dihydropyrimidinase deficiency | Dihydropyrimidinase deficiency (disorder),SNOMEDCT ID:238014002,,,dihydropyrimidinuria,MONDO:0009111,,,dihydropyrimidinase deficiency,DOID:0111629,,OMIM ID:222748 +BMGC_DS05876,BMG_DS016943,"Hunter's syndrome, severe form",UMLS ID:C0342841,"Hunter's syndrome, severe form | Mucopolysaccharidosis type II severe form | Hunter's syndrome, severe form (disorder) | Hunter syndrome, severe form",SNOMEDCT ID:73146005,,,"mucopolysaccharidosis type 2, severe form",MONDO:0016315,,,,,, +BMGC_DS05877,BMG_DS016944,"Hunter's syndrome, mild form",UMLS ID:C0342842,"Hunter's syndrome, mild form | Mucopolysaccharidosis type II mild form | Hunter's syndrome, mild form (disorder) | Hunter syndrome, mild form",SNOMEDCT ID:5667009,,,,,,,,,, +BMGC_DS05878,BMG_DS016947,"Mannosidosis, type I",UMLS ID:C0342847,"Mannosidosis, type I | Mannosidosis infantile onset | Mannosidosis, severe form | Mannosidosis, type I (disorder) | Infantile mannosidosis",SNOMEDCT ID:62311004,,,"alpha-mannosidosis, infantile form",MONDO:0017732,,,,,, +BMGC_DS05879,BMG_DS016950,Sialuria,UMLS ID:C0342853,Sialuria | Sialuria (disorder),SNOMEDCT ID:238051008,,,sialuria,MONDO:0010028,Sialic Acid Storage Disease,MeSH ID:D029461,sialuria,DOID:3659,,OMIM ID:269921 +BMGC_DS05880,BMG_DS016952,Coproporphyria,UMLS ID:C0342856,Coproporphyria | Coproporphyria (disorder),SNOMEDCT ID:190915002,,,,,,MeSH ID:C535469,,,, +BMGC_DS05881,BMG_DS016955,Harderoporphyria,UMLS ID:C0342859,Homozygous hereditary coproporphyria | Harderoporphyria | Homozygous hereditary coproporphyria (disorder),SNOMEDCT ID:238056003,,,harderoporphyria,MONDO:0030048,,MeSH ID:C562816,,,,OMIM ID:618892 +BMGC_DS05882,BMG_DS016960,,UMLS ID:C0342870,,,,,d-bifunctional protein deficiency,MONDO:0009855,,,,,,OMIM ID:261515 +BMGC_DS05883,BMG_DS016962,Glutaric Aciduria III,UMLS ID:C0342873,,,,,glutaric acidemia type 3,MONDO:0009283,,MeSH ID:C562818,,,,OMIM ID:231690 +BMGC_DS05884,BMG_DS016968,Homozygous Familial Hypercholesterolemia,UMLS ID:C0342881,,,,,homozygous familial hypercholesterolemia,MONDO:0018328,Homozygous Familial Hypercholesterolemia,MeSH ID:D000090542,,,, +BMGC_DS05885,BMG_DS016969,Familial hypercholesterolemia - heterozygous,UMLS ID:C0342882,Familial hypercholesterolaemia - heterozygous | Familial hypercholesterolemia - heterozygous | Familial hypercholesterolemia - heterozygous (disorder),SNOMEDCT ID:238079002,,,,,,,,,, +BMGC_DS05886,BMG_DS016970,Cholesteryl Ester Transfer Protein Deficiency,UMLS ID:C0342883,,,,,hyperalphalipoproteinemia,MONDO:0015903,,MeSH ID:C564591,hyperalphalipoproteinemia 1,DOID:0111369,, +BMGC_DS05887,BMG_DS016975,Fish-Eye Disease,UMLS ID:C0342895,,,,,fish eye disease,MONDO:0007620,Lecithin Cholesterol Acyltransferase Deficiency,MeSH ID:D007863,,,,OMIM ID:136120 +BMGC_DS05888,BMG_DS016976,Apolipoprotein A-I deficiency,UMLS ID:C0342898,Apolipoprotein A-I deficiency | Apolipoprotein A-I deficiency (disorder),SNOMEDCT ID:238095002,,,,,,,,,, +BMGC_DS05889,BMG_DS016978,,UMLS ID:C0342907,,,,,sitosterolemia,MONDO:0008863,,,sitosterolemia 1,DOID:0090019,, +BMGC_DS05890,BMG_DS016988,Pantothenic acid deficiency,UMLS ID:C0342938,Pantothenic acid deficiency | Pantothenic acid deficiency (disorder) | Deficiency of pantothenic acid,SNOMEDCT ID:238128006,Unspecified undernutrition,ICD11 ID:5B7Z,,,,,,,ICD10 ID:E53.8, +BMGC_DS05891,BMG_DS017012,Superficial bacterial infection of skin,UMLS ID:C0342985,Superficial bacterial infection of skin | Superficial bacterial infection of skin (disorder),SNOMEDCT ID:275441009,,,,,,,,,, +BMGC_DS05892,BMG_DS017036,Complement component 5 deficiency,UMLS ID:C0343047,,,,,complement component 5 deficiency,MONDO:0012295,,MeSH ID:C537005,complement component 5 deficiency,DOID:8158,,OMIM ID:609536 +BMGC_DS05893,BMG_DS017039,Guttate Psoriasis,UMLS ID:C0343052,,,,,guttate psoriasis,MONDO:0023297,Guttate Psoriasis,MeSH ID:D000098650,,,, +BMGC_DS05894,BMG_DS017041,Generalized pustular psoriasis,UMLS ID:C0343055,Generalised pustular psoriasis | Generalized pustular psoriasis | Generalized pustular psoriasis (disorder) | Generalized pustular psoriasis of von Zumbusch | Generalised pustular psoriasis of von Zumbusch | Acute generalized pustular psoriasis | Acute generalised pustular psoriasis,SNOMEDCT ID:238612002,Generalised pustular psoriasis,ICD11 ID:EA90.40,generalized pustular psoriasis,MONDO:0100491,,,pustular psoriasis 14,DOID:0080474,ICD10 ID:L40.1, +BMGC_DS05895,BMG_DS017042,,UMLS ID:C0343057,,,,,keratosis follicularis spinulosa decalvans,MONDO:0000136,,,,,, +BMGC_DS05896,BMG_DS017045,Dermatographic urticaria,UMLS ID:C0343065,(Dermatographic urticaria) or (factitial urticaria) | Dermatographic urticaria | Factitial urticaria | (Dermatographic urticaria) or (factitial urticaria) (disorder) | Dermatographic urticaria | Dermatographia | Ebbecke's reaction | Dermagraphy | Autographism | Skin writing | Factitial urticaria | Dermographia | Urticaria factitia | Dermatography | Dermographism | Dermographic urticaria | Dermatographic urticaria (disorder) | Dermatographism,SNOMEDCT ID:201263000 | SNOMEDCT ID:7632005,Dermographism,ICD11 ID:EB01.0,,,,,dermatographia,DOID:743,ICD10 ID:L50.3, +BMGC_DS05897,BMG_DS017046,Familial cold urticaria,UMLS ID:C0343068,Familial cold urticaria | Familial cold urticaria (disorder) | Familial cold autoinflammatory syndrome | FCU - familial cold urticaria | FCAS - familial cold autoinflammatory syndrome,SNOMEDCT ID:238687000,,,familial cold autoinflammatory syndrome,MONDO:0018768,,,,,ICD10 ID:M04.2, +BMGC_DS05898,BMG_DS017049,,UMLS ID:C0343073,,,,,isolated familial wooly hair disorder,MONDO:0008686,,,,,, +BMGC_DS05899,BMG_DS017055,,UMLS ID:C0343079,,,,,"milia, multiple eruptive",MONDO:0008001,,,,,,OMIM ID:157400 +BMGC_DS05900,BMG_DS017057,Livedoid vasculitis,UMLS ID:C0343081,Livedoid vasculitis | Idiopathic atrophic blanche | White atrophy | Livedoid vasculitis (disorder) | Livedoid vasculitis | Livedoid vasculitis (disorder),SNOMEDCT ID:238762002 | SNOMEDCT ID:201299005,Livedoid vasculopathy,ICD11 ID:EF50,livedoid vasculopathy,MONDO:0025514,,,livedoid vasculitis,DOID:0040099,ICD10 ID:L95.0, +BMGC_DS05901,BMG_DS017058,,UMLS ID:C0343082,,,,,cherry hemangioma,MONDO:0002323,,,senile angioma,DOID:2495,, +BMGC_DS05902,BMG_DS017060,Capillary Leak Syndrome,UMLS ID:C0343084,,,,,capillary leak syndrome,MONDO:0001956,Capillary Leak Syndrome,MeSH ID:D019559,capillary leak syndrome,DOID:14400,, +BMGC_DS05903,BMG_DS017062,,UMLS ID:C0343094,,,,,"hereditary sclerosing poikiloderma, Weary type",MONDO:0008261,,,,,,OMIM ID:173700 +BMGC_DS05904,BMG_DS017063,Nodular Elastoidosis,UMLS ID:C0343097,,,,,,,Facial Dermatoses,MeSH ID:D005148,,,, +BMGC_DS05905,BMG_DS017067,Flynn Aird syndrome,UMLS ID:C0343108,,,,,Flynn-Aird syndrome,MONDO:0007624,,MeSH ID:C537066,,,,OMIM ID:136300 +BMGC_DS05906,BMG_DS017068,Naegeli syndrome,UMLS ID:C0343111,,,,,Naegeli-Franceschetti-Jadassohn syndrome,MONDO:0008059,,MeSH ID:C538331,Naegeli-Franceschetti-Jadassohn syndrome,DOID:0111528,,OMIM ID:161000 +BMGC_DS05907,BMG_DS017070,,UMLS ID:C0343114,,,,,wooly hair nevus,MONDO:0019311,,,,,, +BMGC_DS05908,BMG_DS017071,,UMLS ID:C0343115,,,,,cutaneous mastocytoma,MONDO:0019314,,,solitary mastocytoma of the skin,DOID:3666,, +BMGC_DS05909,BMG_DS017092,Cutaneous polyarteritis nodosa,UMLS ID:C0343190,Cutaneous polyarteritis nodosa | Cutaneous livedo with nodules | Nodular livedo | Cutaneous polyarteritis nodosa (disorder),SNOMEDCT ID:239926000,,,cutaneous polyarteritis nodosa,MONDO:0018592,,,,,, +BMGC_DS05910,BMG_DS017103,Systemic rheumatoid vasculitis,UMLS ID:C0343203,Rheumatoid arthritis with systemic vasculitis | Rheumatoid arthritis with systemic vasculitis (disorder) | Systemic rheumatoid vasculitis | Rheumatoid vasculitis | Rheumatoid arthritis with vasculitis (disorder) | Rheumatoid arthritis with vasculitis | Systemic rheumatoid vasculitis | Systemic rheumatoid vasculitis (disorder),SNOMEDCT ID:1149219001 | SNOMEDCT ID:400054000 | SNOMEDCT ID:239942007,,,,,,,,,, +BMGC_DS05911,BMG_DS017106,Hypocomplementemic urticarial vasculitis,UMLS ID:C0343206,Hypocomplementaemic vasculitis | Hypocomplementaemic urticarial vasculitis | Hypocomplementemic vasculitis | Hypocomplementemic urticarial vasculitis | Hypocomplementemic urticarial vasculitis (disorder),SNOMEDCT ID:239945009,,,hypocomplementemic urticarial vasculitis,MONDO:0018227,,,,,, +BMGC_DS05912,BMG_DS017150,,UMLS ID:C0343284,,,,,chondrodysplasia,MONDO:0022723,,,,,, +BMGC_DS05913,BMG_DS017158,Tetanus neonatorum,UMLS ID:C0343312,Tetanus neonatorum | Tetanus neonatorum (disorder),SNOMEDCT ID:43424001,,,tetanus neonatorum,MONDO:0001737,,,tetanus neonatorum,DOID:13521,ICD10 ID:A33, +BMGC_DS05914,BMG_DS017175,Pseudomonas gastrointestinal tract infection,UMLS ID:C0343337,Pseudomonas gastrointestinal tract infection | Pseudomonas gastrointestinal tract infection (disorder) | Pseudomonas: [GIT infection] or [pyocyanea diarrhoea] | Pseudomonas gastrointestinal tract infection | Pseudomonas: [GIT infection] or [pyocyanea diarrhea] | Diarrhea due to Pseudomonas pyocyanea | Diarrhoea due to Pseudomonas pyocyanea | Pseudomonas: [GIT infection] or [pyocyanea diarrhoea] (disorder),SNOMEDCT ID:266078006 | SNOMEDCT ID:186142005,,,,,,,,,, +BMGC_DS05915,BMG_DS017201,Helicobacter-associated gastritis,UMLS ID:C0343378,Helicobacter-associated gastritis | Helicobacter-associated gastritis (disorder),SNOMEDCT ID:89538001,,,,,,,,,, +BMGC_DS05916,BMG_DS017208,Clostridium difficile infection,UMLS ID:C0343386,Clostridium difficile infection | Clostridium difficile infection (disorder) | Clostridium difficile infection | Clostridioides difficile infection | Infection caused by Clostridioides difficile (disorder) | Infection caused by Clostridioides difficile,SNOMEDCT ID:389981005 | SNOMEDCT ID:186431008,,,,,,,,,, +BMGC_DS05917,BMG_DS017218,Cyclosporiasis,UMLS ID:C0343398,Cyclosporiasis | Cyclosporiasis (disorder),SNOMEDCT ID:240372001,,,cyclosporiasis,MONDO:0005725,Cyclosporiasis,MeSH ID:D021866,cyclosporiasis,DOID:12750,ICD10 ID:A07.4, +BMGC_DS05918,BMG_DS017221,Methicillin resistant Staphylococcus aureus infection,UMLS ID:C0343401,Methicillin resistant Staphylococcus aureus infection (disorder) | Methicillin resistant Staphylococcus aureus infection | Infection due to Methicillin resistant Staphylococcus aureus | MRSA (Methicillin resistant Staphylococcus aureus) infection,SNOMEDCT ID:266096002,,,methicillin-resistant staphylococcus aureus infectious disease,MONDO:0100073,,,,,, +BMGC_DS05919,BMG_DS017222,Bacterial infection caused by Klebsiella pneumoniae,UMLS ID:C0343402,Friedlander's bacillus infection | Friedlander's bacillus infection (disorder) | Friedlander bacillus infection | Bacterial infection caused by Klebsiella pneumoniae,SNOMEDCT ID:186435004,,,,,,,,,, +BMGC_DS05920,BMG_DS017270,Erythema nodosum leprosum,UMLS ID:C0343467,ENL - Erythema nodosum leprosum | Erythema nodosum leprosum | Erythema nodosum leprosum (disorder),SNOMEDCT ID:240411003,,,,,,,,,, +BMGC_DS05921,BMG_DS017285,Streptococcal sore throat with scarlatina,UMLS ID:C0343487,Streptococcal sore throat with scarlatina | Streptococcal sore throat with scarlatina (disorder),SNOMEDCT ID:154301006 | SNOMEDCT ID:186357007,,,,,,,scarlet fever,DOID:8596,, +BMGC_DS05922,BMG_DS017296,Gas gangrene caused by clostridium perfringens,UMLS ID:C0343500,Clostridium perfringens infection | Gas gangrene caused by clostridium perfringens | Clostridium (& [perfringens] or [welchii]: [infection] or [gas gangrene] | Gas gangrene caused by clostridium welchii | Clostridium (& [perfringens] or [welchii]: [infection] or [gas gangrene] (disorder) | Gas gangrene caused by clostridium perfringens | Gas gangrene caused by clostridium welchii | Gas gangrene caused by clostridium perfringens (disorder),SNOMEDCT ID:186410005 | SNOMEDCT ID:266093005,,,,,,,,,, +BMGC_DS05923,BMG_DS017322,Pontiac Fever,UMLS ID:C0343528,,,,,Pontiac fever,MONDO:0020487,Legionnaires' Disease,MeSH ID:D007877,,,, +BMGC_DS05924,BMG_DS017325,Streptococcal toxic shock syndrome,UMLS ID:C0343532,Streptococcal toxic shock syndrome | Streptococcal toxic shock syndrome (disorder),SNOMEDCT ID:240451000,,,streptococcal toxic-shock syndrome,MONDO:0020544,,,,,, +BMGC_DS05925,BMG_DS017417,Human papilloma virus infection,UMLS ID:C0343641,Papovavirus infection subgroup A | Papovavirus infection subgroup A (disorder) | Human papilloma virus infection | Human papilloma virus infection (disorder) | Human papilloma virus infection | Human papillomavirus infection (disorder) | Human papillomavirus infection | HPV (Human papillomavirus) infection | HPV (Human papillomavirus) disease,SNOMEDCT ID:75003008 | SNOMEDCT ID:186751006 | SNOMEDCT ID:240532009,,,human papilloma virus infection,MONDO:0005161,,,,,, +BMGC_DS05926,BMG_DS017469,Gonococcal synovitis or tenosynovitis,UMLS ID:C0343714,Gonococcal synovitis or tenosynovitis | Gonococcal synovitis or tenosynovitis (disorder) | Gonococcal synovitis &/or tenosynovitis | Gonococcal teno-synovitis | Gonococcal synovitis | Gonococcal synovitis or tenosynovitis | Gonococcal tenosynovitis | Gonococcal synovitis &/or tenosynovitis (disorder),SNOMEDCT ID:266138002 | SNOMEDCT ID:186927008,,,,,,,gonococcal synovitis,DOID:13454,, +BMGC_DS05927,BMG_DS017482,Perianal warts,UMLS ID:C0343730,Perianal warts | Perianal warts (disorder) | Warts: [perianal] or [anal] | Anal warts | Perianal warts | Warts: [perianal] or [anal] (disorder),SNOMEDCT ID:154364000 | SNOMEDCT ID:186689006 | SNOMEDCT ID:266114001,,,,,,,,,, +BMGC_DS05928,BMG_DS017498,Acute HIV infection,UMLS ID:C0343752,Acute HIV infection | Acute human immunodeficiency virus seroconversion illness | Acute human immunodeficiency virus infection | Acute human immunodeficiency virus infection (disorder),SNOMEDCT ID:111880001,,,,,,,,,, +BMGC_DS05929,BMG_DS017500,HIV Wasting Syndrome,UMLS ID:C0343755,,,,,HIV wasting syndrome,MONDO:0005797,HIV Wasting Syndrome,MeSH ID:D019247,,,, +BMGC_DS05930,BMG_DS017503,American tick typhus,UMLS ID:C0343759,American tick typhus | American tick typhus (disorder) | RMSF - Rocky Mountain spotted fever | Rocky Mountain spotted fever | Rocky Mountain spotted fever (disorder) | Rocky Mountain tick fever | Sao Paulo fever | Brazilian spotted fever | American tick typhus,SNOMEDCT ID:240614000 | SNOMEDCT ID:186772009,,,,,,,,,, +BMGC_DS05931,BMG_DS017559,Tertiary lesion of yaws,UMLS ID:C0343833,Tertiary lesion of yaws | Tertiary stage of yaws | Tertiary lesion of yaws (disorder) | Tertiary yaws,SNOMEDCT ID:88037009,,,tertiary lesion of yaws,MONDO:0042452,,,,,, +BMGC_DS05932,BMG_DS017560,Bone and/or joint yaws lesions,UMLS ID:C0343834,Bone and joint yaws lesions | Bone and/or joint yaws lesions (disorder) | Bone and/or joint yaws lesions,SNOMEDCT ID:266147005,,,,,,,early yaws,DOID:10568,, +BMGC_DS05933,BMG_DS017580,Pharyngeal candidiasis,UMLS ID:C0343861,Pharyngeal candidiasis | Candidosis of pharynx | Pharyngeal thrush | Pharyngeal candidiasis (disorder) | Oral candidiasis | Oral moniliasis | Pharyngeal candidiasis | Candidiasis: [oral and oesophagus] or [pharyngeal] | Candidiasis: [oral and esophagus] or [pharyngeal] | Candidiasis of mouth and esophagus | Monilia of mouth and esophagus | Thrush of mouth and esophagus | Monilia of mouth and oesophagus | Candidiasis of mouth and oesophagus | Thrush of mouth and oesophagus | Candidiasis: [oral and oesophagus] or [pharyngeal] (disorder),SNOMEDCT ID:240704003 | SNOMEDCT ID:187006006,,,,,,,,,, +BMGC_DS05934,BMG_DS017602,Gastrointestinal candidiasis,UMLS ID:C0343886,Gastrointestinal candidiasis | Gastrointestinal candidiasis (disorder) | Candidiasis of intestine,SNOMEDCT ID:84679006,,,,,,,,,, +BMGC_DS05935,BMG_DS017646,Trichosporonosis,UMLS ID:C0343939,Trichosporonosis | Trichosporonosis (disorder),SNOMEDCT ID:240761008,,,trichosporonosis,MONDO:0000306,Trichosporonosis,MeSH ID:D060586,trichosporonosis,DOID:0050290,, +BMGC_DS05936,BMG_DS017647,Disseminated Trichosporonosis,UMLS ID:C0343941,,,,,,,Trichosporonosis,MeSH ID:D060586,trichosporonosis,DOID:0050290,, +BMGC_DS05937,BMG_DS017666,Entomophthoramycosis,UMLS ID:C0343961,Entomophthoramycosis | Infection by Entomophthora | Entomophthoramycosis (disorder),SNOMEDCT ID:240782002,,,,,Zygomycosis,MeSH ID:D020096,,,, +BMGC_DS05938,BMG_DS017792,See-Saw Nystagmus,UMLS ID:C0344243,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS05939,BMG_DS017802,Bullous retinoschisis,UMLS ID:C0344289,"Bullous retinoschisis | Bullous retinoschisis (disorder) | Peripheral retinoschisis, retinal cysts",SNOMEDCT ID:65545003,,,bullous retinoschisis,MONDO:0001435,,,bullous retinoschisis,DOID:12108,, +BMGC_DS05940,BMG_DS017803,Vitreoretinal degeneration,UMLS ID:C0344290,Vitreoretinal degeneration | Vitreoretinal degeneration (disorder),SNOMEDCT ID:247182006,,,vitreoretinal degeneration,MONDO:0020248,,,,,,OMIM ID:MTHU002188 +BMGC_DS05941,BMG_DS017805,Choroidal sclerosis,UMLS ID:C0344297,Choroidal degeneration | Choroidal sclerosis | Choroidal degeneration (disorder) | Choroidal sclerosis | Choroidal sclerosis (finding),SNOMEDCT ID:47638000 | SNOMEDCT ID:247199007,,,choroidal sclerosis,MONDO:0004885,,MeSH ID:C535358,choroidal sclerosis,DOID:980,,OMIM ID:MTHU006953 +BMGC_DS05942,BMG_DS017808,,UMLS ID:C0344318,,,,,flying phobia,MONDO:0003748,,,flying phobia,DOID:605,, +BMGC_DS05943,BMG_DS017824,"Ventricular tachycardia, polymorphic",UMLS ID:C0344432,"Ventricular tachycardia, polymorphic | Ventricular tachycardia, polymorphic (disorder)",SNOMEDCT ID:251159007,,,polymorphic ventricular tachycardia,MONDO:0020575,,,,,, +BMGC_DS05944,BMG_DS017826,,UMLS ID:C0344456,,,,,adrenal medulla cancer,MONDO:0003606,,,adrenal medulla cancer,DOID:5719,, +BMGC_DS05945,BMG_DS017827,,UMLS ID:C0344460,,,,,carcinoma ex pleomorphic adenoma,MONDO:0002472,,,pleomorphic adenoma carcinoma,DOID:297,, +BMGC_DS05946,BMG_DS017829,Spinal intradural arachnoid cysts,UMLS ID:C0344485,,,,,spinal intradural arachnoid cysts,MONDO:0008454,,MeSH ID:C536878,,,,OMIM ID:182990 +BMGC_DS05947,BMG_DS017833,,UMLS ID:C0344516,,,,,coloboma of eye lens,MONDO:0020355,,,,,, +BMGC_DS05948,BMG_DS017834,,UMLS ID:C0344523,,,,,cerulean cataract,MONDO:0020374,,,,,, +BMGC_DS05949,BMG_DS017836,,UMLS ID:C0344529,,,,,cornea plana,MONDO:0000733,,,,,, +BMGC_DS05950,BMG_DS017837,,UMLS ID:C0344530,,,,,megalocornea,MONDO:0009576,,,megalocornea,DOID:0060305,,OMIM ID:249300 +BMGC_DS05951,BMG_DS017838,,UMLS ID:C0344542,,,,,aniridia 1,MONDO:0024507,,,,,,OMIM ID:106210 +BMGC_DS05952,BMG_DS017839,,UMLS ID:C0344543,,,,,aniridia 2,MONDO:0014937,,,,,,OMIM ID:617141 +BMGC_DS05953,BMG_DS017841,,UMLS ID:C0344559,,,,,Peters anomaly,MONDO:0011414,,,,,,OMIM ID:604229 +BMGC_DS05954,BMG_DS017851,,UMLS ID:C0344688,,,,,patent ductus venosus,MONDO:0011089,,,,,,OMIM ID:601466 +BMGC_DS05955,BMG_DS017853,,UMLS ID:C0344697,,,,,cor triatriatum dexter,MONDO:0020429,,,,,, +BMGC_DS05956,BMG_DS017859,,UMLS ID:C0344724,,,,,"atrial septal defect, ostium secundum type",MONDO:0020434,,,,,, +BMGC_DS05957,BMG_DS017860,,UMLS ID:C0344730,,,,,"atrial septal defect, sinus venosus type",MONDO:0020436,,,,,, +BMGC_DS05958,BMG_DS017863,,UMLS ID:C0344760,,,,,mitral atresia disorder,MONDO:0015249,,,,,, +BMGC_DS05959,BMG_DS017879,Left cardiac ventricular dilatation,UMLS ID:C0344911,Dilatation of left cardiac ventricle (disorder) | Dilatation of left cardiac ventricle | Left cardiac ventricular dilatation,SNOMEDCT ID:253541009,,,,,,,,,, +BMGC_DS05960,BMG_DS017883,Right hypoplastic heart syndrome,UMLS ID:C0344963,(Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) | Pseudotruncus arteriosus | Right hypoplastic heart syndrome | (Right hypoplastic heart syndrome) or (pseudotruncus arteriosus) (disorder) | Right hypoplastic heart syndrome | Pseudotruncus arteriosus | Right hypoplastic heart syndrome (disorder),SNOMEDCT ID:204348000 | SNOMEDCT ID:268180007,,,hypoplastic right heart syndrome,MONDO:0020291,,,hypoplastic right heart syndrome,DOID:0070315,, +BMGC_DS05961,BMG_DS017884,,UMLS ID:C0344975,,,,,pulmonary atresia-intact ventricular septum syndrome,MONDO:0009931,,,,,,OMIM ID:265150 +BMGC_DS05962,BMG_DS017885,,UMLS ID:C0344976,,,,,pulmonary atresia with ventricular septal defect,MONDO:0008343,,,,,,OMIM ID:178370 +BMGC_DS05963,BMG_DS017889,,UMLS ID:C0345010,,,,,aorta atresia,MONDO:0001863,,,aorta atresia,DOID:14037,, +BMGC_DS05964,BMG_DS017891,Peripheral pulmonary artery stenosis,UMLS ID:C0345030,PPS - Peripheral pulmonary stenosis | Peripheral pulmonary artery stenosis | Peripheral pulmonary artery stenosis (disorder),SNOMEDCT ID:253631001,,,,,,,,,,OMIM ID:MTHU014956 +BMGC_DS05965,BMG_DS017894,,UMLS ID:C0345050,,,,,"aortic aneurysm, familial thoracic 1",MONDO:0024559,,,,,,OMIM ID:607086 +BMGC_DS05966,BMG_DS017905,,UMLS ID:C0345160,,,,,,,,,laryngomalacia,DOID:0080833,, +BMGC_DS05967,BMG_DS017916,,UMLS ID:C0345240,,,,,"aganglionosis, total intestinal",MONDO:0008738,,,,,,OMIM ID:202550 +BMGC_DS05968,BMG_DS017923,,UMLS ID:C0345326,,,,,phimosis,MONDO:0006904,,,,,, +BMGC_DS05969,BMG_DS017925,,UMLS ID:C0345345,,,,,atresia of urethra,MONDO:0015195,,,,,, +BMGC_DS05970,BMG_DS017929,,UMLS ID:C0345375,,,,,femoral agenesis/hypoplasia,MONDO:0016032,,,,,, +BMGC_DS05971,BMG_DS017931,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",UMLS ID:C0345407,,,,,autosomal recessive osteopetrosis 3,MONDO:0009818,,,autosomal recessive osteopetrosis 3,DOID:0110941,,OMIM ID:259730 | OMIM ID:611492 +BMGC_DS05972,BMG_DS017932,,UMLS ID:C0345408,,,,,isolated congenital digital clubbing,MONDO:0007343,,,,,,OMIM ID:119900 +BMGC_DS05973,BMG_DS017933,,UMLS ID:C0345419,,,,,cutis marmorata telangiectatica congenita,MONDO:0009055,,,,,,OMIM ID:219250 +BMGC_DS05974,BMG_DS017934,,UMLS ID:C0345424,,,,,"comedones, familial Dyskeratotic",MONDO:0007358,,,,,,OMIM ID:120450 +BMGC_DS05975,BMG_DS017949,,UMLS ID:C0345617,,,,,neoplasm of middle ear,MONDO:0021366,,,middle ear cancer,DOID:5099,, +BMGC_DS05976,BMG_DS017952,,UMLS ID:C0345668,,,,,ethmoidal sinus neoplasm,MONDO:0001764,,,ethmoidal sinus benign neoplasm,DOID:1364,, +BMGC_DS05977,BMG_DS017954,,UMLS ID:C0345672,,,,,frontal sinus neoplasm,MONDO:0001757,,,frontal sinus benign neoplasm,DOID:1361,, +BMGC_DS05978,BMG_DS017956,,UMLS ID:C0345676,,,,,sphenoidal sinus neoplasm,MONDO:0004047,,,sphenoidal sinus benign neoplasm,DOID:6947,, +BMGC_DS05979,BMG_DS017958,,UMLS ID:C0345713,,,,,glottis neoplasm,MONDO:0002353,,,glottis neoplasm,DOID:2597,, +BMGC_DS05980,BMG_DS017959,,UMLS ID:C0345726,,,,,supraglottis neoplasm,MONDO:0004427,,,supraglottis neoplasm,DOID:8002,, +BMGC_DS05981,BMG_DS017960,,UMLS ID:C0345746,,,,,subglottis neoplasm,MONDO:0000933,,,subglottis benign neoplasm,DOID:10069,, +BMGC_DS05982,BMG_DS017963,,UMLS ID:C0345799,,,,,gastric fundus carcinoma,MONDO:0003970,,,gastric fundus carcinoma,DOID:6700,, +BMGC_DS05983,BMG_DS017965,,UMLS ID:C0345804,,,,,gastric body carcinoma,MONDO:0003972,,,gastric body carcinoma,DOID:6705,, +BMGC_DS05984,BMG_DS017967,,UMLS ID:C0345832,,,,,small intestine neoplasm,MONDO:0004251,,,small intestine benign neoplasm,DOID:7505,, +BMGC_DS05985,BMG_DS017970,,UMLS ID:C0345873,,,,,rectosigmoid junction neoplasm,MONDO:0002423,,,rectosigmoid junction neoplasm,DOID:2780,, +BMGC_DS05986,BMG_DS017972,,UMLS ID:C0345893,,,,,juvenile polyposis syndrome,MONDO:0017380,,,,,,OMIM ID:174900 +BMGC_DS05987,BMG_DS017974,,UMLS ID:C0345904,,,,,liver cancer,MONDO:0002691,,,liver cancer,DOID:3571,, +BMGC_DS05988,BMG_DS017975,,UMLS ID:C0345905,,,,,intrahepatic cholangiocarcinoma,MONDO:0003210,,,intrahepatic cholangiocarcinoma,DOID:4928,, +BMGC_DS05989,BMG_DS017976,,UMLS ID:C0345906,,,,,liver sarcoma,MONDO:0002397,,,liver sarcoma,DOID:270,, +BMGC_DS05990,BMG_DS017977,,UMLS ID:C0345907,,,,,liver angiosarcoma,MONDO:0002387,,,liver angiosarcoma,DOID:268,, +BMGC_DS05991,BMG_DS017981,,UMLS ID:C0345913,,,,,extrahepatic bile duct neoplasm,MONDO:0021385,,,biliary tract benign neoplasm,DOID:0050625,, +BMGC_DS05992,BMG_DS017983,,UMLS ID:C0345916,,,,,ampulla of vater neoplasm,MONDO:0000921,,,ampulla of Vater benign neoplasm,DOID:10022,, +BMGC_DS05993,BMG_DS017986,,UMLS ID:C0345945,,,,,tracheal adenoid cystic carcinoma,MONDO:0006471,,,trachea adenoid cystic carcinoma,DOID:4875,, +BMGC_DS05994,BMG_DS017987,,UMLS ID:C0345946,,,,,trachea squamous cell carcinoma,MONDO:0001419,,,trachea squamous cell carcinoma,DOID:12003,, +BMGC_DS05995,BMG_DS017988,,UMLS ID:C0345958,,,,,lung large cell carcinoma,MONDO:0003050,,,lung large cell carcinoma,DOID:4556,, +BMGC_DS05996,BMG_DS017989,,UMLS ID:C0345959,,,,,,,,,lung clear cell carcinoma,DOID:7267,, +BMGC_DS05997,BMG_DS017990,,UMLS ID:C0345960,,,,,lung giant cell carcinoma,MONDO:0006275,,,lung giant cell carcinoma,DOID:5583,, +BMGC_DS05998,BMG_DS017992,,UMLS ID:C0345964,,,,,lung adenoma,MONDO:0003422,,,lung adenoma,DOID:5386,, +BMGC_DS05999,BMG_DS017993,,UMLS ID:C0345967,,,,,malignant mesothelioma,MONDO:0006292,,,malignant mesothelioma,DOID:1790,,OMIM ID:156240 +BMGC_DS06000,BMG_DS017996,,UMLS ID:C0345978,,,,,clear cell squamous cell skin carcinoma,MONDO:0004523,,,clear cell squamous cell skin carcinoma,DOID:8288,, +BMGC_DS06001,BMG_DS017997,,UMLS ID:C0345979,,,,,acantholytic squamous cell skin carcinoma,MONDO:0004316,,,acantholytic squamous cell skin carcinoma,DOID:7643,, +BMGC_DS06002,BMG_DS017999,,UMLS ID:C0345982,,,,,,,,,Ferguson-Smith tumor,DOID:5585,, +BMGC_DS06003,BMG_DS018000,,UMLS ID:C0345983,,,,,squamous cell skin papilloma,MONDO:0004204,,,squamous cell papilloma of skin,DOID:7380,, +BMGC_DS06004,BMG_DS018002,,UMLS ID:C0345988,,,,,epidermal appendage tumor,MONDO:0002297,,,epidermal appendage tumor,DOID:2433,, +BMGC_DS06005,BMG_DS018006,,UMLS ID:C0346005,,,,,pilar sheath acanthoma,MONDO:0006907,,,pilar sheath acanthoma,DOID:4322,, +BMGC_DS06006,BMG_DS018007,,UMLS ID:C0346006,,,,,follicular infundibulum tumor,MONDO:0004560,,,follicular infundibulum tumor,DOID:8426,, +BMGC_DS06007,BMG_DS018008,Birt-Hogg-Dube Syndrome,UMLS ID:C0346010,,,,,Birt-Hogg-Dube syndrome 1 | Birt-Hogg-Dube syndrome,MONDO:0800445;MONDO:0800444,Birt-Hogg-Dube Syndrome,MeSH ID:D058249,Birt-Hogg-Dube syndrome,DOID:0050676,,OMIM ID:135150 +BMGC_DS06008,BMG_DS018009,,UMLS ID:C0346013,,,,,skin fibroepithelial basal cell carcinoma,MONDO:0002948,,,fibroepithelial basal cell carcinoma,DOID:4291,, +BMGC_DS06009,BMG_DS018010,,UMLS ID:C0346017,,,,,cutaneous adenocystic carcinoma,MONDO:0003180,,,cutaneous adenocystic carcinoma,DOID:4871,, +BMGC_DS06010,BMG_DS018011,,UMLS ID:C0346019,,,,,cutaneous mucoepidermoid carcinoma,MONDO:0003091,,,cutaneous mucoepidermoid carcinoma,DOID:4683,, +BMGC_DS06011,BMG_DS018013,,UMLS ID:C0346026,,,,,eccrine mixed tumor of skin,MONDO:0002200,,,eccrine mixed tumor of skin,DOID:2079,, +BMGC_DS06012,BMG_DS018016,,UMLS ID:C0346041,,,,,dermis tumor,MONDO:0002300,,,dermis tumor,DOID:2438,, +BMGC_DS06013,BMG_DS018017,,UMLS ID:C0346049,,,,,,,,,cutaneous fibrous histiocytoma,DOID:4418,, +BMGC_DS06014,BMG_DS018018,,UMLS ID:C0346054,,,,,verruciform xanthoma of skin,MONDO:0003640,,,verruciform xanthoma of skin,DOID:5769,, +BMGC_DS06015,BMG_DS018020,,UMLS ID:C0346060,,,,,cutaneous granular cell tumor,MONDO:0002291,,,skin granular cell tumor,DOID:2410,, +BMGC_DS06016,BMG_DS018021,,UMLS ID:C0346063,,,,,cutaneous ganglioneuroma,MONDO:0002293,,,cutaneous ganglioneuroma,DOID:2425,, +BMGC_DS06017,BMG_DS018022,,UMLS ID:C0346064,,,,,leiomyoma cutis,MONDO:0003291,,,leiomyoma cutis,DOID:5132,, +BMGC_DS06018,BMG_DS018024,,UMLS ID:C0346067,,,,,cutaneous leiomyosarcoma,MONDO:0003362,,,cutaneous leiomyosarcoma,DOID:5273,, +BMGC_DS06019,BMG_DS018026,,UMLS ID:C0346072,,,,,blue rubber bleb nevus,MONDO:0007203,,,,,,OMIM ID:112200 +BMGC_DS06020,BMG_DS018027,,UMLS ID:C0346073,,,,,tufted angioma,MONDO:0011927,,,,,,OMIM ID:607859 +BMGC_DS06021,BMG_DS018028,,UMLS ID:C0346075,,,,,,,,,angiokeratoma,DOID:479,, +BMGC_DS06022,BMG_DS018030,,UMLS ID:C0346081,,,,,skin angiosarcoma,MONDO:0003029,,,skin angiosarcoma,DOID:4517,, +BMGC_DS06023,BMG_DS018032,,UMLS ID:C0346083,,,,,skin glomus tumor,MONDO:0002295,,,skin glomus tumor,DOID:2430,, +BMGC_DS06024,BMG_DS018036,,UMLS ID:C0346104,,,,,Bazex-Dupre-Christol syndrome,MONDO:0010535,,,,,,OMIM ID:301845 +BMGC_DS06025,BMG_DS018037,,UMLS ID:C0346109,,,,,malignant peritoneal mesothelioma,MONDO:0005512,,,peritoneal mesothelioma,DOID:1788,, +BMGC_DS06026,BMG_DS018038,,UMLS ID:C0346110,,,,,,,,,pericardial mesothelioma,DOID:6201,, +BMGC_DS06027,BMG_DS018041,,UMLS ID:C0346118,,,,,benign lipomatous neoplasm,MONDO:0044983,,,lipoma,DOID:3315,, +BMGC_DS06028,BMG_DS018042,,UMLS ID:C0346151,,,,,scirrhous breast carcinoma,MONDO:0004288,,,breast scirrhous carcinoma,DOID:7578,, +BMGC_DS06029,BMG_DS018043,,UMLS ID:C0346153,,,,,hereditary breast carcinoma,MONDO:0016419,,,,,,OMIM ID:114480 +BMGC_DS06030,BMG_DS018044,,UMLS ID:C0346154,,,,,malignant breast phyllodes tumor,MONDO:0002489,,,breast malignant phyllodes tumor,DOID:3016,, +BMGC_DS06031,BMG_DS018046,,UMLS ID:C0346157,,,,,breast giant fibroadenoma,MONDO:0004150,,,breast giant fibroadenoma,DOID:7223,, +BMGC_DS06032,BMG_DS018047,,UMLS ID:C0346158,,,,,,,,,breast fibroadenoma,DOID:1618,, +BMGC_DS06033,BMG_DS018048,,UMLS ID:C0346161,,,,,malignant epithelial tumor of ovary,MONDO:0018364,,,,,, +BMGC_DS06034,BMG_DS018049,,UMLS ID:C0346163,,,,,ovarian endometrioid adenocarcinoma,MONDO:0006335,,,endometrioid ovary carcinoma,DOID:5828,, +BMGC_DS06035,BMG_DS018052,,UMLS ID:C0346167,,,,,undifferentiated ovarian carcinoma,MONDO:0006477,,,,,, +BMGC_DS06036,BMG_DS018053,,UMLS ID:C0346169,,,,,ovarian cystadenoma,MONDO:0005183,,,ovarian cystadenoma,DOID:3269,, +BMGC_DS06037,BMG_DS018054,,UMLS ID:C0346172,,,,,mucinous ovarian cystadenoma,MONDO:0002583,,,mucinous ovarian cystadenoma,DOID:3267,, +BMGC_DS06038,BMG_DS018057,,UMLS ID:C0346180,,,,,malignant germ cell tumor of ovary,MONDO:0018171,,,malignant ovarian germ cell neoplasm,DOID:2155,, +BMGC_DS06039,BMG_DS018058,,UMLS ID:C0346181,,,,,choriocarcinoma of ovary,MONDO:0003507,,,choriocarcinoma of ovary,DOID:5550,, +BMGC_DS06040,BMG_DS018059,,UMLS ID:C0346182,,,,,immature ovarian teratoma,MONDO:0018369,,,immature teratoma of ovary,DOID:6331,, +BMGC_DS06041,BMG_DS018060,,UMLS ID:C0346183,,,,,ovarian embryonal carcinoma,MONDO:0003581,,,ovarian embryonal carcinoma,DOID:5681,, +BMGC_DS06042,BMG_DS018061,,UMLS ID:C0346185,,,,,dysgerminoma of ovary,MONDO:0003481,,,dysgerminoma of ovary,DOID:5511,, +BMGC_DS06043,BMG_DS018062,,UMLS ID:C0346188,,,,,ovarian yolk sac tumor,MONDO:0006344,,,ovarian endodermal sinus tumor,DOID:5350,, +BMGC_DS06044,BMG_DS018064,,UMLS ID:C0346191,,,,,endometrium carcinoma in situ,MONDO:0003315,,,endometrium carcinoma in situ,DOID:5172,, +BMGC_DS06045,BMG_DS018065,,UMLS ID:C0346200,,,,,intravenous leiomyomatosis,MONDO:0003614,,,intravenous leiomyomatosis,DOID:5729,, +BMGC_DS06046,BMG_DS018066,,UMLS ID:C0346202,,,,,cervical adenosquamous carcinoma,MONDO:0006134,,,cervical adenosquamous carcinoma,DOID:5636,, +BMGC_DS06047,BMG_DS018069,,UMLS ID:C0346239,,,,,epididymal neoplasm,MONDO:0003283,,,epididymal neoplasm,DOID:512,, +BMGC_DS06048,BMG_DS018070,,UMLS ID:C0346249,,,,,multilocular clear cell renal cell carcinoma,MONDO:0003010,,,multilocular clear cell renal cell carcinoma,DOID:4463,, +BMGC_DS06049,BMG_DS018071,,UMLS ID:C0346251,,,,,kidney sarcoma,MONDO:0002930,,,kidney sarcoma,DOID:4242,, +BMGC_DS06050,BMG_DS018072,,UMLS ID:C0346255,,,,,kidney oncocytoma,MONDO:0003825,,,renal oncocytoma,DOID:6245,, +BMGC_DS06051,BMG_DS018073,,UMLS ID:C0346256,,,,,,,,,kidney hemangiopericytoma,DOID:262,, +BMGC_DS06052,BMG_DS018074,,UMLS ID:C0346260,,,,,renal pelvis neoplasm,MONDO:0003719,,,renal pelvis benign neoplasm,DOID:5977,, +BMGC_DS06053,BMG_DS018077,,UMLS ID:C0346289,,,,,choroid plexus cancer,MONDO:0002681,,,choroid plexus carcinoma,DOID:5648,, +BMGC_DS06054,BMG_DS018079,,UMLS ID:C0346295,,,,,spinal cord oligodendroglioma,MONDO:0002541,,,spinal cord oligodendroglioma,DOID:3184,, +BMGC_DS06055,BMG_DS018080,,UMLS ID:C0346300,,,,,pituitary adenocarcinoma,MONDO:0017582,,,pituitary carcinoma,DOID:4916,, +BMGC_DS06056,BMG_DS018081,,UMLS ID:C0346302,,,,,,,,,growth hormone secreting pituitary adenoma,DOID:6255,, +BMGC_DS06057,BMG_DS018082,,UMLS ID:C0346303,,,,,TSH-secreting pituitary adenoma,MONDO:0019611,,,TSH producing pituitary tumor,DOID:6275,, +BMGC_DS06058,BMG_DS018086,,UMLS ID:C0346326,,,,,optic nerve glioma,MONDO:0003235,,,optic nerve glioma,DOID:4992,, +BMGC_DS06059,BMG_DS018087,,UMLS ID:C0346328,,,,,optic nerve sheath meningioma,MONDO:0003557,,,optic nerve sheath meningioma,DOID:5632,, +BMGC_DS06060,BMG_DS018089,,UMLS ID:C0346331,,,,,malignant neoplasm of acoustic nerve,MONDO:0002432,,,malignant neoplasm of acoustic nerve,DOID:2814,, +BMGC_DS06061,BMG_DS018090,,UMLS ID:C0346340,,,,,lacrimal gland adenoid cystic carcinoma,MONDO:0006262,,,lacrimal gland adenoid cystic carcinoma,DOID:4870,, +BMGC_DS06062,BMG_DS018091,,UMLS ID:C0346341,,,,,lacrimal gland adenocarcinoma,MONDO:0002475,,,lacrimal gland adenocarcinoma,DOID:298,, +BMGC_DS06063,BMG_DS018092,,UMLS ID:C0346342,,,,,lacrimal gland carcinoma ex pleomorphic adenoma,MONDO:0002469,,,mixed lacrimal gland cancer,DOID:296,, +BMGC_DS06064,BMG_DS018093,,UMLS ID:C0346347,,,,,orbit rhabdomyosarcoma,MONDO:0002580,,,orbit rhabdomyosarcoma,DOID:3259,, +BMGC_DS06065,BMG_DS018094,,UMLS ID:C0346352,,,,,cavernous hemangioma of orbit,MONDO:0001975,,,cavernous hemangioma of orbit,DOID:14463,, +BMGC_DS06066,BMG_DS018095,,UMLS ID:C0346359,,,,,conjunctival squamous cell carcinoma,MONDO:0006173,,,conjunctival squamous cell carcinoma,DOID:1748,, +BMGC_DS06067,BMG_DS018096,,UMLS ID:C0346360,,,,,malignant conjunctival melanoma,MONDO:0002096,,,malignant conjunctival melanoma,DOID:1751,, +BMGC_DS06068,BMG_DS018098,,UMLS ID:C0346366,,,,,cornea squamous cell carcinoma,MONDO:0001740,,,cornea squamous cell carcinoma,DOID:13538,, +BMGC_DS06069,BMG_DS018099,,UMLS ID:C0346367,,,,,malignant cornea melanoma,MONDO:0004550,,,malignant cornea melanoma,DOID:8400,, +BMGC_DS06070,BMG_DS018100,,UMLS ID:C0346372,,,,,iris cancer,MONDO:0002658,,,iris cancer,DOID:3478,, +BMGC_DS06071,BMG_DS018101,,UMLS ID:C0346373,,,,,iris melanoma,MONDO:0004064,,,malignant iris melanoma,DOID:6994,, +BMGC_DS06072,BMG_DS018103,,UMLS ID:C0346379,,,,,malignant ciliary body melanoma,MONDO:0003912,,,malignant ciliary body melanoma,DOID:6524,, +BMGC_DS06073,BMG_DS018105,,UMLS ID:C0346388,,,,,malignant choroid melanoma,MONDO:0003878,,,malignant choroid melanoma,DOID:6438,, +BMGC_DS06074,BMG_DS018107,,UMLS ID:C0346402,,,,,malignant tumor of adrenal cortex,MONDO:0021312,,,adrenal cortex cancer,DOID:660,, +BMGC_DS06075,BMG_DS018110,,UMLS ID:C0346421,,,,,chronic eosinophilic leukemia,MONDO:0015687,,,,,, +BMGC_DS06076,BMG_DS018111,,UMLS ID:C0346424,,,,,spleen angiosarcoma,MONDO:0002376,,,spleen angiosarcoma,DOID:265,, +BMGC_DS06077,BMG_DS018113,,UMLS ID:C0346601,,,,,,,,,lung hilum cancer,DOID:7696,, +BMGC_DS06078,BMG_DS018114,,UMLS ID:C0346609,,,,,pericardium cancer,MONDO:0001322,,,pericardium cancer,DOID:116,, +BMGC_DS06079,BMG_DS018115,,UMLS ID:C0346610,,,,,,,,,epicardium cancer,DOID:4699,, +BMGC_DS06080,BMG_DS018116,,UMLS ID:C0346611,,,,,myocardium cancer,MONDO:0004749,,,myocardium cancer,DOID:9299,, +BMGC_DS06081,BMG_DS018117,,UMLS ID:C0346612,,,,,endocardium cancer,MONDO:0003687,,,endocardium cancer,DOID:5877,, +BMGC_DS06082,BMG_DS018118,,UMLS ID:C0346619,,,,,gastroesophageal cancer,MONDO:0850129,,,,,, +BMGC_DS06083,BMG_DS018119,,UMLS ID:C0346627,,,,,intestinal cancer,MONDO:0005814,,,intestinal cancer,DOID:10155,, +BMGC_DS06084,BMG_DS018120,,UMLS ID:C0346629,,,,,colorectal cancer,MONDO:0005575,,,colorectal cancer | large intestine cancer,DOID:9256;DOID:5672,,OMIM ID:114500 +BMGC_DS06085,BMG_DS018121,,UMLS ID:C0346648,,,,,malignant exocrine pancreas neoplasm,MONDO:0002116,,,malignant exocrine pancreas neoplasm,DOID:1795,, +BMGC_DS06086,BMG_DS018122,,UMLS ID:C0346787,,,,,malignant breast melanoma,MONDO:0002975,,,malignant breast melanoma,DOID:4364,, +BMGC_DS06087,BMG_DS018123,,UMLS ID:C0346811,,,,,malignant dermis tumor,MONDO:0003363,,,malignant dermis tumor,DOID:5274,, +BMGC_DS06088,BMG_DS018124,,UMLS ID:C0346845,,,,,,,,,vascular cancer,DOID:175,, +BMGC_DS06089,BMG_DS018125,,UMLS ID:C0346866,,,,,broad ligament malignant neoplasm,MONDO:0001108,,,broad ligament malignant neoplasm,DOID:10744,, +BMGC_DS06090,BMG_DS018126,,UMLS ID:C0346867,,,,,round ligament malignant neoplasm,MONDO:0001352,,,round ligament malignant neoplasm,DOID:11748,, +BMGC_DS06091,BMG_DS018127,,UMLS ID:C0346902,,,,,thalamic cancer,MONDO:0003766,,,thalamic neoplasm,DOID:6098,, +BMGC_DS06092,BMG_DS018129,,UMLS ID:C0346906,,,,,,,,,cerebral ventricle cancer,DOID:3541,, +BMGC_DS06093,BMG_DS018130,,UMLS ID:C0346935,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS06094,BMG_DS018131,,UMLS ID:C0346936,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS06095,BMG_DS018132,,UMLS ID:C0346948,,,,,malignant neoplasm of chest wall,MONDO:0021323,,,chest wall lymphoma,DOID:6758,, +BMGC_DS06096,BMG_DS018133,,UMLS ID:C0346974,,,,,metastatic malignant neoplasm in the colon,MONDO:0041447,,,,,, +BMGC_DS06097,BMG_DS018138,,UMLS ID:C0347095,,,,,nasal cavity carcinoma in situ,MONDO:0003784,,,nasal cavity carcinoma in situ,DOID:6148,, +BMGC_DS06098,BMG_DS018146,,UMLS ID:C0347139,,,,,,,,,skin carcinoma in situ,DOID:8687,, +BMGC_DS06099,BMG_DS018153,,UMLS ID:C0347215,,,,,benign neoplasm of nasal cavity,MONDO:0021475,,,nasal cavity benign neoplasm,DOID:9310,, +BMGC_DS06100,BMG_DS018160,,UMLS ID:C0347272,,,,,benign neoplasm of large intestine,MONDO:0021444,,,,,, +BMGC_DS06101,BMG_DS018166,,UMLS ID:C0347390,,,,,skin papilloma,MONDO:0002536,,,skin papilloma,DOID:3178,, +BMGC_DS06102,BMG_DS018167,,UMLS ID:C0347394,,,,,skin lipoma,MONDO:0000964,,,skin lipoma,DOID:10188,, +BMGC_DS06103,BMG_DS018172,,UMLS ID:C0347446,,,,,spinal cord lipoma,MONDO:0001790,,,spinal cord lipoma,DOID:13743,, +BMGC_DS06104,BMG_DS018177,,UMLS ID:C0347515,,,,,spinal meningioma,MONDO:0001275,,,spinal meningioma,DOID:1138,, +BMGC_DS06105,BMG_DS018194,"Epilepsy, Akinetic",UMLS ID:C0347869,,,,,,,"Epilepsy, Generalized",MeSH ID:D004829,,,, +BMGC_DS06106,BMG_DS018223,Congenital malformation syndromes associated with short stature,UMLS ID:C0347915,Congenital malformation syndromes associated with short stature | Congenital malformation syndromes associated with short stature (disorder),SNOMEDCT ID:205808005,,,,,,,,,, +BMGC_DS06107,BMG_DS018225,Non-Syphilitic Argyll-Robertson Pupil,UMLS ID:C0347925,,,,,,,Pupil Disorders,MeSH ID:D011681,,,, +BMGC_DS06108,BMG_DS018229,Asthma attack,UMLS ID:C0347950,Asthma attack (& NOS) | Asthma attack NOS | Asthma attack | Asthma attack (& NOS) (disorder) | Asthma attack | Asthma NOS | Asthma: [NOS] or [attack] | Asthma: [NOS] or [attack] (disorder) | Asthma attack | Asthma attack (disorder) | Asthma attack | Acute exacerbation of asthma | Acute exacerbation of asthma (disorder) | Asthma attack NOS | Asthma attack | Asthma attack (& NOS) | Asthma attack (& NOS) (disorder),SNOMEDCT ID:155578006 | SNOMEDCT ID:155579003 | SNOMEDCT ID:266398009 | SNOMEDCT ID:266364000 | SNOMEDCT ID:708038006 | SNOMEDCT ID:195981004,,,,,,,,,, +BMGC_DS06109,BMG_DS018352,,UMLS ID:C0348343,,,,,,,,,bronchus cancer,DOID:1325,, +BMGC_DS06110,BMG_DS018353,,UMLS ID:C0348371,,,,,,,,,urinary system cancer,DOID:3996,, +BMGC_DS06111,BMG_DS018354,,UMLS ID:C0348374,,,,,central nervous system cancer,MONDO:0002714,,,central nervous system cancer,DOID:3620,, +BMGC_DS06112,BMG_DS018363,Other hypoparathyroidism,UMLS ID:C0348454,,,"Hypoparathyroidism, unspecified",ICD11 ID:5A50.Z,,,,,autosomal dominant hypocalcemia,DOID:0090109,ICD10 ID:E20.8, +BMGC_DS06113,BMG_DS018365,Other disorders of pituitary gland,UMLS ID:C0348457,,,"Disorders of the pituitary hormone system, unspecified",ICD11 ID:5A6Z,,,,,hypogonadotropic hypogonadism 24 without anosmia,DOID:0090088,ICD10 ID:E23.6, +BMGC_DS06114,BMG_DS018368,Other hyperaldosteronism,UMLS ID:C0348460,,,"Hyperaldosteronism, unspecified",ICD11 ID:5A72.Z,,,,,Bartter disease type 2 | Bartter disease type 1 | Bartter disease type 3 | Bartter disease type 4b | Bartter disease type 4a | Bartter disease type 5,DOID:0110143;DOID:0110147;DOID:0110142;DOID:0110145;DOID:0110146;DOID:0110144,ICD10 ID:E26.8 | ICD10 ID:E26.89, +BMGC_DS06115,BMG_DS018379,Other disorders of branched-chain amino-acid metabolism,UMLS ID:C0348484,,,"Disorders of branchedchain amino acid metabolism, unspecified",ICD11 ID:5C50.DZ,,,,,methylmalonic acidemia cblB type | methylmalonic acidemia cblA type | methylmalonic acidemia due to transcobalamin receptor defect | branched-chain keto acid dehydrogenase kinase deficiency,DOID:0090126;DOID:0060742;DOID:0060741;DOID:0060743,ICD10 ID:E71.19 | ICD10 ID:E71.1, +BMGC_DS06116,BMG_DS018384,Other sphingolipidosis,UMLS ID:C0348489,,,"Metabolic disorders, unspecified",ICD11 ID:5D2Z,,,,,leukoencephalopathy with vanishing white matter | hypomyelinating leukodystrophy 6 | hypomyelinating leukodystrophy 9 | Niemann-Pick disease type A | hypomyelinating leukodystrophy 4 | Gaucher's disease perinatal lethal | atypical Gaucher's disease due to saposin c deficiency | Niemann-Pick disease type C1 | Niemann-Pick disease type C2 | hypomyelinating leukodystrophy 3 | PCWH syndrome | Niemann-Pick disease type B | Gaucher's disease type III | Gaucher's disease type I | hypomyelinating leukodystrophy 2 | Gaucher's disease type II,DOID:0070112;DOID:0110958;DOID:0070114;DOID:0090111;DOID:0070113;DOID:0110961;DOID:0060789;DOID:0060787;DOID:0060798;DOID:0110957;DOID:0110960;DOID:0110959;DOID:0070111;DOID:0060791;DOID:0060790;DOID:0060868,ICD10 ID:E75.2 | ICD10 ID:E75.29, +BMGC_DS06117,BMG_DS018443,Other cardiomyopathies,UMLS ID:C0348617,,,Other specified cardiomyopathy,ICD11 ID:BC43.Y,,,,,arrhythmogenic right ventricular dysplasia 10 | arrhythmogenic right ventricular dysplasia 6 | arrhythmogenic right ventricular dysplasia 9 | arrhythmogenic right ventricular dysplasia 11 | arrhythmogenic right ventricular dysplasia 5 | arrhythmogenic right ventricular dysplasia 4 | arrhythmogenic right ventricular dysplasia 3 | arrhythmogenic right ventricular dysplasia 12 | arrhythmogenic right ventricular dysplasia 13 | arrhythmogenic right ventricular dysplasia 8,DOID:0110082;DOID:0110072;DOID:0110077;DOID:0110081;DOID:0110083;DOID:0110074;DOID:0110084;DOID:0110076;DOID:0110073;DOID:0110075,ICD10 ID:I42.8, +BMGC_DS06118,BMG_DS018446,Other specified cardiac arrhythmias,UMLS ID:C0348626,,,Other specified diseases of the circulatory system,ICD11 ID:BE2Y,,,,,Brugada syndrome 1 | Brugada syndrome 9,DOID:0110218;DOID:0110226,ICD10 ID:I49.8, +BMGC_DS06119,BMG_DS018518,Other specified diseases of liver,UMLS ID:C0348751,,,"Diseases of liver, unspecified",ICD11 ID:DB9Z,,,,,congenital bile acid synthesis defect,DOID:0050674,ICD10 ID:K76.8 | ICD10 ID:K76.89, +BMGC_DS06120,BMG_DS018582,Listerial endocarditis,UMLS ID:C0348868,Listerial endocarditis | Listerial endocarditis (disorder),SNOMEDCT ID:186318004,,,,,,,,,ICD10 ID:A32.82, +BMGC_DS06121,BMG_DS018590,"Aplastic anemia, idiopathic",UMLS ID:C0348890,,,,,idiopathic aplastic anemia,MONDO:0012197,,MeSH ID:C538494,,,,OMIM ID:609135 +BMGC_DS06122,BMG_DS018595,Irritable bowel syndrome with diarrhea,UMLS ID:C0348898,Irritable bowel syndrome with diarrhoea | Irritable bowel syndrome with diarrhea | Irritable bowel syndrome with diarrhea (disorder),SNOMEDCT ID:197125005,,,,,,,,,ICD10 ID:K58.0, +BMGC_DS06123,BMG_DS018617,Other specified diabetes mellitus with unspecified complications,UMLS ID:C0348932,Other specified diabetes mellitus with unspecified complications | Other specified diabetes mellitus with unspecified complications (disorder),SNOMEDCT ID:190425002,"Diabetes mellitus, other specified type",ICD11 ID:5A13,,,,,Wolfram syndrome 1,DOID:0110629,ICD10 ID:E13.8, +BMGC_DS06124,BMG_DS018663,Cerebral Cryptococcosis,UMLS ID:C0348991,,,,,,,"Meningitis, Cryptococcal",MeSH ID:D016919,Cryptococcal meningitis,DOID:0080159,, +BMGC_DS06125,BMG_DS018683,,UMLS ID:C0349231,,,,,phobic disorder,MONDO:0003699,,,phobic disorder,DOID:591,, +BMGC_DS06126,BMG_DS018684,Nonorganic Insomnia,UMLS ID:C0349255,,,,,,,Sleep Initiation and Maintenance Disorders,MeSH ID:D007319,,,, +BMGC_DS06127,BMG_DS018713,,UMLS ID:C0349464,,,,,Wernicke-Korsakoff syndrome,MONDO:0010198,,,Wernicke-Korsakoff syndrome,DOID:10915,,OMIM ID:277730 +BMGC_DS06128,BMG_DS018726,Fetal Hypoxia,UMLS ID:C0349489,,,,,,,Fetal Hypoxia,MeSH ID:D005311,,,, +BMGC_DS06129,BMG_DS018736,,UMLS ID:C0349502,,,,,dermoid cyst of skin,MONDO:0001778,,,dermoid cyst of skin,DOID:13691,, +BMGC_DS06130,BMG_DS018737,,UMLS ID:C0349506,,,,,skin sensitivity to sun,MONDO:0005434,,,,,, +BMGC_DS06131,BMG_DS018740,,UMLS ID:C0349515,,,,,amelanotic skin melanoma,MONDO:0005208,,,skin amelanotic melanoma,DOID:10054,, +BMGC_DS06132,BMG_DS018750,,UMLS ID:C0349530,,,,,microinvasive gastric cancer,MONDO:0001060,,,microinvasive gastric cancer,DOID:10541,, +BMGC_DS06133,BMG_DS018751,,UMLS ID:C0349532,,,,,gastric lymphoma,MONDO:0001059,,,gastric lymphoma,DOID:10540,, +BMGC_DS06134,BMG_DS018752,,UMLS ID:C0349534,,,,,anal margin carcinoma,MONDO:0002941,,,anal margin carcinoma,DOID:4284,, +BMGC_DS06135,BMG_DS018753,,UMLS ID:C0349535,,,,,intestinal neuroendocrine tumor G1,MONDO:0021533,,,,,,OMIM ID:114900 +BMGC_DS06136,BMG_DS018755,,UMLS ID:C0349538,,,,,anal melanoma,MONDO:0006081,,,malignant anus melanoma,DOID:14145,, +BMGC_DS06137,BMG_DS018756,,UMLS ID:C0349539,,,,,rectum malignant melanoma,MONDO:0002167,,,rectum malignant melanoma,DOID:1992,, +BMGC_DS06138,BMG_DS018757,,UMLS ID:C0349540,,,,,spinal cord astrocytoma,MONDO:0003174,,,spinal cord astrocytoma,DOID:4863,, +BMGC_DS06139,BMG_DS018758,,UMLS ID:C0349543,,,,,brain glioblastoma,MONDO:0002501,,,brain glioblastoma multiforme,DOID:3073,, +BMGC_DS06140,BMG_DS018759,,UMLS ID:C0349551,,,,,scrotum squamous cell carcinoma,MONDO:0001651,,,scrotum squamous cell carcinoma,DOID:13159,, +BMGC_DS06141,BMG_DS018761,,UMLS ID:C0349557,,,,,gestational choriocarcinoma,MONDO:0020550,,,gestational choriocarcinoma,DOID:2025,, +BMGC_DS06142,BMG_DS018762,,UMLS ID:C0349561,,,,,bartholin gland carcinoma,MONDO:0002829,,,Bartholin's gland carcinoma,DOID:3999,, +BMGC_DS06143,BMG_DS018765,,UMLS ID:C0349566,,,,,tongue squamous cell carcinoma,MONDO:0000500,,,tongue squamous cell carcinoma,DOID:0050865,, +BMGC_DS06144,BMG_DS018766,,UMLS ID:C0349574,,,,,neoplasm of pericardium,MONDO:0021381,,,pericardium cancer,DOID:116,, +BMGC_DS06145,BMG_DS018768,,UMLS ID:C0349576,,,,,external ear cancer,MONDO:0003574,,,external ear cancer,DOID:5665,, +BMGC_DS06146,BMG_DS018769,Complex Endometrial Hyperplasia,UMLS ID:C0349578,,,,,complex endometrial hyperplasia | obsolete endometrial hyperplasia,MONDO:0041161;MONDO:0006169,Endometrial Hyperplasia,MeSH ID:D004714,endometrial hyperplasia,DOID:0080365,, +BMGC_DS06147,BMG_DS018770,Atypical Endometrial Hyperplasia,UMLS ID:C0349579,,,,,atypical endometrial hyperplasia | obsolete endometrial hyperplasia,MONDO:0006096;MONDO:0041161,Endometrial Hyperplasia,MeSH ID:D004714,endometrial hyperplasia,DOID:0080365,, +BMGC_DS06148,BMG_DS018771,,UMLS ID:C0349582,,,,,trigeminal schwannoma,MONDO:0002555,,,neurilemmoma of the fifth cranial nerve,DOID:3202,, +BMGC_DS06149,BMG_DS018775,,UMLS ID:C0349604,,,,,intracranial meningioma,MONDO:0850302,,,intracranial meningioma,DOID:0080842,, +BMGC_DS06150,BMG_DS018776,Central Nervous System Cysts,UMLS ID:C0349606,,,,,central nervous system cyst,MONDO:0005262,Central Nervous System Cysts,MeSH ID:D020863,,,, +BMGC_DS06151,BMG_DS018781,,UMLS ID:C0349620,,,,,cerebellar pilocytic astrocytoma,MONDO:0003168,,,pilocytic astrocytoma of cerebellum,DOID:4853,, +BMGC_DS06152,BMG_DS018782,,UMLS ID:C0349621,,,,,,,,,malignant pineal area germ cell neoplasm,DOID:1660,, +BMGC_DS06153,BMG_DS018783,,UMLS ID:C0349622,,,,,meninges hemangiopericytoma,MONDO:0003223,,,meninges hemangiopericytoma,DOID:4957,, +BMGC_DS06154,BMG_DS018784,,UMLS ID:C0349623,,,,,,,,,central nervous system melanocytic neoplasm,DOID:4955,, +BMGC_DS06155,BMG_DS018787,,UMLS ID:C0349631,,,,,Richter syndrome,MONDO:0002083,,,Richter's syndrome,DOID:1703,, +BMGC_DS06156,BMG_DS018789,,UMLS ID:C0349633,,,,,hairy cell leukemia variant,MONDO:0017600,,,HCL-V,DOID:713,, +BMGC_DS06157,BMG_DS018790,,UMLS ID:C0349636,,,,,precursor B-cell acute lymphoblastic leukemia,MONDO:0020511,,,,,, +BMGC_DS06158,BMG_DS018791,,UMLS ID:C0349639,,,,,juvenile myelomonocytic leukemia,MONDO:0011908,,,juvenile myelomonocytic leukemia,DOID:0050458,,OMIM ID:607785 +BMGC_DS06159,BMG_DS018794,,UMLS ID:C0349644,,,,,testicular lymphoma,MONDO:0001472,,,testicular lymphoma,DOID:12253,, +BMGC_DS06160,BMG_DS018795,,UMLS ID:C0349649,,,,,lung lymphangioleiomyomatosis,MONDO:0006277,,,lymphangioleiomyomatosis,DOID:3319,, +BMGC_DS06161,BMG_DS018796,Non-tuberculous mycobacterial pneumonia,UMLS ID:C0349650,Non-tuberculous mycobacterial pneumonia | Non-tuberculous mycobacterial pneumonia (disorder),SNOMEDCT ID:277869007,,,,,,,,,, +BMGC_DS06162,BMG_DS018797,Congenital disorder of glycosylation type 1A,UMLS ID:C0349653,,,,,PMM2-congenital disorder of glycosylation,MONDO:0008907,,MeSH ID:C535739,,,,OMIM ID:212065 +BMGC_DS06163,BMG_DS018798,"Congenital Disorder Of Glycosylation, Type I-IIX",UMLS ID:C0349655,,,,,"congenital disorder of glycosylation, type i/IIx",MONDO:0008909,,MeSH ID:C562844,,,,OMIM ID:212067 +BMGC_DS06164,BMG_DS018799,,UMLS ID:C0349656,,,,,sarcomatoid squamous cell skin carcinoma,MONDO:0003499,,,sarcomatoid squamous cell skin carcinoma,DOID:5536,, +BMGC_DS06165,BMG_DS018800,,UMLS ID:C0349657,,,,,plantar verrucous skin carcinoma,MONDO:0002765,,,plantar verrucous skin carcinoma,DOID:3751,, +BMGC_DS06166,BMG_DS018805,,UMLS ID:C0349666,,,,,bladder sarcoma,MONDO:0001374,,,bladder sarcoma,DOID:11812,, +BMGC_DS06167,BMG_DS018806,,UMLS ID:C0349667,,,,,breast sarcoma,MONDO:0002490,,,breast sarcoma,DOID:3017,, +BMGC_DS06168,BMG_DS018807,,UMLS ID:C0349669,,,,,,,,,breast lymphoma,DOID:5826,, +BMGC_DS06169,BMG_DS018820,Hypoglossal Neuralgia,UMLS ID:C0349716,,,,,,,Hypoglossal Nerve Diseases,MeSH ID:D020437,,,, +BMGC_DS06170,BMG_DS018821,Herpes simplex infection of skin,UMLS ID:C0349719,Scrum pox | Cutaneous herpes simplex infection | Herpes simplex infection of skin | Herpes simplex infection of skin (disorder),SNOMEDCT ID:240475000,,,,,,,,,, +BMGC_DS06171,BMG_DS018825,Female pelvic cellulitis,UMLS ID:C0349734,Female pelvic cellulitis | Female pelvic cellulitis (disorder),SNOMEDCT ID:280486004,,,,,,,,,, +BMGC_DS06172,BMG_DS018839,Diverticulitis of gastrointestinal tract,UMLS ID:C0349774,Diverticulitis of gastrointestinal tract | Diverticulitis of gastrointestinal tract (disorder),SNOMEDCT ID:271366000,,,,,,,,,, +BMGC_DS06173,BMG_DS018843,Arrhythmogenic Right Ventricular Dysplasia,UMLS ID:C0349788,,,,,arrhythmogenic right ventricular cardiomyopathy,MONDO:0016587,Arrhythmogenic Right Ventricular Dysplasia,MeSH ID:D019571,arrhythmogenic right ventricular cardiomyopathy,DOID:0050431,, +BMGC_DS06174,BMG_DS018844,,UMLS ID:C0349790,,,,,acute asthma,MONDO:0850283,,,,,, +BMGC_DS06175,BMG_DS018850,,UMLS ID:C0362046,,,,,prediabetes syndrome,MONDO:0006920,,,prediabetes syndrome,DOID:11716,, +BMGC_DS06176,BMG_DS018854,,UMLS ID:C0375071,,,,,vulva cancer,MONDO:0001528,,,vulva cancer,DOID:1245,, +BMGC_DS06177,BMG_DS018856,,UMLS ID:C0375197,,,,,,,,,anaerobic meningitis,DOID:14559,, +BMGC_DS06178,BMG_DS018857,Shuddering attacks,UMLS ID:C0375200,Shuddering attacks (disorder) | Benign shuddering attacks | Shuddering attacks,SNOMEDCT ID:446995005,,,benign shuddering attacks,MONDO:0002085,,,benign shuddering attacks,DOID:1713,, +BMGC_DS06179,BMG_DS018863,Acute endocarditis,UMLS ID:C0375268,Acute endocarditis | Acute endocarditis (disorder),SNOMEDCT ID:91357005,,,,,,,endocarditis,DOID:10314,, +BMGC_DS06180,BMG_DS018864,,UMLS ID:C0375275,,,,,,,,,carotid artery occlusion,DOID:807,, +BMGC_DS06181,BMG_DS018867,Pneumonia due to other streptococci,UMLS ID:C0375326,,,Pneumonia due to other specified bacteria,ICD11 ID:CA40.0Y,,,,,,,ICD10 ID:J15.4, +BMGC_DS06182,BMG_DS018868,,UMLS ID:C0375327,,,,,,,,,anaerobic pneumonia,DOID:873,, +BMGC_DS06183,BMG_DS018872,Chronic left-sided ulcerative colitis,UMLS ID:C0375359,Chronic left-sided ulcerative colitis | Chronic left-sided ulcerative colitis (disorder),SNOMEDCT ID:441971007,,,,,,,ulcerative colitis,DOID:8577,, +BMGC_DS06184,BMG_DS018879,Urethral intrinsic sphincter deficiency,UMLS ID:C0375381,Urethral intrinsic sphincter deficiency | Urethral intrinsic sphincter deficiency (finding),SNOMEDCT ID:16031000119101,,,urethral intrinsic sphincter deficiency,MONDO:0001721,,,urethral intrinsic sphincter deficiency,DOID:13461,, +BMGC_DS06185,BMG_DS018881,,UMLS ID:C0375489,,,,,,,,,pigmentation disease,DOID:10123,, +BMGC_DS06186,BMG_DS018883,,UMLS ID:C0376117,,,,,inflamed seborrheic keratosis,MONDO:0001337,,,inflamed seborrheic keratosis,DOID:11685,, +BMGC_DS06187,BMG_DS018884,Necrotizing Hemorrhagic Encephalomyelitis,UMLS ID:C0376171,,,,,,,"Leukoencephalitis, Acute Hemorrhagic",MeSH ID:D004684,,,, +BMGC_DS06188,BMG_DS018885,Bell Palsy,UMLS ID:C0376175,,,,,Bell's palsy,MONDO:0005665,Bell Palsy,MeSH ID:D020330,Bell's palsy,DOID:12506,, +BMGC_DS06189,BMG_DS018886,"Hypoaldosteronism, Hyporeninemic",UMLS ID:C0376185,,,,,hyperkalemic renal tubular acidosis,MONDO:0100161,Hypoaldosteronism,MeSH ID:D006994,,,, +BMGC_DS06190,BMG_DS018888,Avitaminosis,UMLS ID:C0376286,(Other vitamin deficiency) or (avitaminosis) | Other vitamin deficiency | Avitaminosis | (Other vitamin deficiency) or (avitaminosis) (disorder) | Vitamin deficiency | Hypovitaminosis | Avitaminosis | Vitamin deficiency (disorder) | Avitaminosis | Other vitamin deficiency | (Other vitamin deficiency) or (avitaminosis) | (Other vitamin deficiency) or (avitaminosis) (disorder),SNOMEDCT ID:154729006 | SNOMEDCT ID:85670002 | SNOMEDCT ID:267494000,,,,,Avitaminosis,MeSH ID:D001361,,,, +BMGC_DS06191,BMG_DS018889,Amaurosis,UMLS ID:C0376288,Amaurosis | Amaurosis (disorder),SNOMEDCT ID:70449006,,,,,Blindness,MeSH ID:D001766,,,,OMIM ID:MTHU023011 +BMGC_DS06192,BMG_DS018890,Dengue Shock Syndrome,UMLS ID:C0376300,,,,,dengue shock syndrome,MONDO:0000248,Severe Dengue,MeSH ID:D019595,,,, +BMGC_DS06193,BMG_DS018892,,UMLS ID:C0376319,,,,,congenital epulis,MONDO:0015528,,,congenital epulis,DOID:7280,, +BMGC_DS06194,BMG_DS018893,Congestive Ophthalmopathy,UMLS ID:C0376323,,,,,,,Graves Ophthalmopathy,MeSH ID:D049970,Graves ophthalmopathy,DOID:0081120,, +BMGC_DS06195,BMG_DS018894,New Variant Creutzfeldt-Jakob Disease,UMLS ID:C0376329,,,,,variant Creutzfeldt-Jakob disease,MONDO:0007012,Creutzfeldt-Jakob Syndrome,MeSH ID:D007562,,,, +BMGC_DS06196,BMG_DS018895,Premenstrual Tension,UMLS ID:C0376356,,,,,premenstrual tension,MONDO:0004169,Premenstrual Syndrome,MeSH ID:D011293,premenstrual tension,DOID:727,, +BMGC_DS06197,BMG_DS018896,,UMLS ID:C0376358,,,,,prostate cancer,MONDO:0008315,,,prostate cancer,DOID:10283,, +BMGC_DS06198,BMG_DS018897,Gronblad-Strandberg Syndrome,UMLS ID:C0376359,,,,,,,Pseudoxanthoma Elasticum,MeSH ID:D011561,,,, +BMGC_DS06199,BMG_DS018898,Purpura Hemorrhagica,UMLS ID:C0376362,,,,,,,IgA Vasculitis,MeSH ID:D011695,,,, +BMGC_DS06200,BMG_DS018899,Posterior Cervical Sympathetic Syndrome,UMLS ID:C0376378,,,,,Barre-Lieou syndrome,MONDO:0005663,Posterior Cervical Sympathetic Syndrome,MeSH ID:D055010,Barre-Lieou syndrome,DOID:6692,, +BMGC_DS06201,BMG_DS018902,"Hibernation, Myocardial",UMLS ID:C0376416,,,,,,,Myocardial Stunning,MeSH ID:D017682,,,, +BMGC_DS06202,BMG_DS018903,,UMLS ID:C0376480,,,,,gingival overgrowth,MONDO:0002507,,,gingival overgrowth,DOID:3086,, +BMGC_DS06203,BMG_DS018904,Branchio-Oculo-Facial Syndrome,UMLS ID:C0376524,,,,,branchiooculofacial syndrome,MONDO:0007235,Branchio-Oto-Renal Syndrome,MeSH ID:D019280,,,,OMIM ID:113620 +BMGC_DS06204,BMG_DS018905,,UMLS ID:C0376527,,,,,skull base neoplasm,MONDO:0002785,,,skull base cancer,DOID:3842,, +BMGC_DS06205,BMG_DS018906,"Epilepsy, Rolandic",UMLS ID:C0376532,,,,,childhood epilepsy with centrotemporal spikes,MONDO:0007295,"Epilepsy, Rolandic",MeSH ID:D019305,benign epilepsy with centrotemporal spikes,DOID:3329,,OMIM ID:117100 +BMGC_DS06206,BMG_DS018908,,UMLS ID:C0376544,,,,,hematopoietic and lymphoid cell neoplasm,MONDO:0044881,,,hematologic cancer,DOID:2531,, +BMGC_DS06207,BMG_DS018912,Endotoxemia,UMLS ID:C0376618,Endotoxemia (disorder) | Endotoxaemia | Endotoxemia | Endotoxic shock | Gram-negative shock | Gram-negative septic shock | Endotoxemia | Endotoxaemia | Endotoxic shock (disorder),SNOMEDCT ID:371770009 | SNOMEDCT ID:82042006,,,,,Endotoxemia,MeSH ID:D019446,,,, +BMGC_DS06208,BMG_DS018914,"Pancreatitis, Alcoholic",UMLS ID:C0376670,,,,,alcoholic pancreatitis,MONDO:0003232,"Pancreatitis, Alcoholic",MeSH ID:D019512,alcoholic pancreatitis,DOID:4988,, +BMGC_DS06209,BMG_DS018915,Shoulder Impingement Syndrome,UMLS ID:C0376685,,,,,shoulder impingement syndrome,MONDO:0006968,Shoulder Impingement Syndrome,MeSH ID:D019534,shoulder impingement syndrome,DOID:14276,, +BMGC_DS06210,BMG_DS018918,Clinical Capillary Leak Syndrome,UMLS ID:C0376704,,,,,,,Capillary Leak Syndrome,MeSH ID:D019559,,,, +BMGC_DS06211,BMG_DS018919,Esophageal Hernia,UMLS ID:C0376710,,,,,,,"Hernia, Hiatal",MeSH ID:D006551,hiatus hernia,DOID:12642,, +BMGC_DS06212,BMG_DS018921,Tietz syndrome,UMLS ID:C0391816,,,,,Tietz syndrome,MONDO:0007077,,MeSH ID:C536919,Tietz syndrome,DOID:0090002,,OMIM ID:103500 +BMGC_DS06213,BMG_DS018926,,UMLS ID:C0391826,,,,,Lhermitte-Duclos disease,MONDO:0019002,,,Cowden syndrome,DOID:6457,, +BMGC_DS06214,BMG_DS018929,,UMLS ID:C0391869,,,,,erythropoietin polycythemia,MONDO:0002440,,,erythropoietin polycythemia,DOID:2839,, +BMGC_DS06215,BMG_DS018933,Cervical Sympathetic Dystrophy,UMLS ID:C0391959,,,,,,,Reflex Sympathetic Dystrophy,MeSH ID:D012019,,,, +BMGC_DS06216,BMG_DS018944,Infarction of testis,UMLS ID:C0392041,Infarction of testis | Testicular infarct | Testicular infarction | Infarction of testis (disorder),SNOMEDCT ID:33793000,,,testicular infarct,MONDO:0003279,,,testicular infarct,DOID:5104,, +BMGC_DS06217,BMG_DS018947,Suppurative lymphadenopathy,UMLS ID:C0392051,Suppurative lymphadenopathy | Suppurative lymphadenitis | Suppurative lymphadenopathy (disorder),SNOMEDCT ID:48573006,,,suppurative lymphadenitis,MONDO:0003069,,,suppurative lymphadenitis,DOID:4639,, +BMGC_DS06218,BMG_DS018953,Cardiac sarcoidosis,UMLS ID:C0392077,Cardiac sarcoidosis | Cardiac sarcoidosis (disorder),SNOMEDCT ID:75403004,,,cardiac sarcoidosis,MONDO:0001707,,,cardiac sarcoidosis,DOID:13405,, +BMGC_DS06219,BMG_DS018958,,UMLS ID:C0392109,,,,,,,,,tracheomalacia,DOID:0060313,, +BMGC_DS06220,BMG_DS018964,Corneal erosion,UMLS ID:C0392163,Corneal erosion | Superficial ulcer of cornea | Corneal erosion (disorder),SNOMEDCT ID:50792001,,,,,,,,,, +BMGC_DS06221,BMG_DS018965,Pulmonary Cystic Fibrosis,UMLS ID:C0392164,,,,,,,Cystic Fibrosis,MeSH ID:D003550,,,, +BMGC_DS06222,BMG_DS018970,Mucositis following radiation therapy,UMLS ID:C0392190,Mucositis following radiation therapy | Radiation-induced mucositis | Mucositis following radiation therapy (disorder) | Ulcerative mucositis due to radiation,SNOMEDCT ID:109257007,,,,,,,,,, +BMGC_DS06223,BMG_DS018974,,UMLS ID:C0392400,,,,,,,,,malignant mesothelioma,DOID:1790,, +BMGC_DS06224,BMG_DS018975,Benign pemphigus,UMLS ID:C0392436,Pemphigoid | Pemphigoid (disorder) | Benign pemphigus | Benign pemphigus (disorder),SNOMEDCT ID:86142006 | SNOMEDCT ID:200902009,,,,,,,,,, +BMGC_DS06225,BMG_DS018976,Acrodermatitis continua of Hallopeau,UMLS ID:C0392439,Pustulosis palmaris et plantaris | Recalcitrant pustular eruption of palms and soles | PPP - Palmoplantar pustulosis | Chronic palmoplantar pustular psoriasis | Palmoplantar pustular psoriasis | Pustular acrodermatitis | Pustular psoriasis of palms and soles | Palmoplantar pustulosis | Pustular psoriasis of palms and soles (disorder) | Acrodermatitis continua of Hallopeau | Dermatitis repens | Acrodermatitis continua of Hallopeau (disorder) | Acropustulosis | Acrodermatitis perstans,SNOMEDCT ID:27520001 | SNOMEDCT ID:83839005,,,"psoriasis 14, pustular",MONDO:0013626,,,,,,OMIM ID:614204 +BMGC_DS06226,BMG_DS018979,Necrobiosis Lipoidica Diabeticorum,UMLS ID:C0392445,,,,,,,Necrobiosis Lipoidica,MeSH ID:D009335,,,, +BMGC_DS06227,BMG_DS018987,Anomalous atrioventricular excitation,UMLS ID:C0392470,Anomalous atrioventricular excitation | Anomalous atrioventricular excitation (disorder),SNOMEDCT ID:195057009 | SNOMEDCT ID:17869006,"Conduction disorders, unspecified",ICD11 ID:BC63.Z,,,,,Wolff-Parkinson-White syndrome,DOID:384,ICD10 ID:I45.6, +BMGC_DS06228,BMG_DS018988,Roberts-SC phocomelia syndrome,UMLS ID:C0392475,Roberts-SC phocomelia syndrome | Pseudothalidomide syndrome | Hypomelia-hypotrichosis-facial hemangioma syndrome | Hypomelia-hypotrichosis-facial haemangioma syndrome | Roberts-SC phocomelia syndrome (disorder) | Hypomelia hypotrichosis facial haemangioma syndrome | Hypomelia hypotrichosis facial hemangioma syndrome | Robert's syndrome,SNOMEDCT ID:48718006,,,Roberts-SC phocomelia syndrome,MONDO:0100253,,,Roberts syndrome,DOID:5325,,OMIM ID:268300 | OMIM ID:269000 +BMGC_DS06229,BMG_DS018989,Asymptomatic periapical periodontitis,UMLS ID:C0392492,Asymptomatic periapical periodontitis (disorder) | Asymptomatic periapical periodontitis | Chronic apical periodontitis | CAP - chronic apical periodontitis | Chronic periapical periodontitis | Chronic periradicular periodontitis,SNOMEDCT ID:718052004,,,chronic apical periodontitis,MONDO:0001251,,,chronic apical periodontitis,DOID:11269,, +BMGC_DS06230,BMG_DS018990,Hypertrophy of tongue papillae,UMLS ID:C0392494,Hypertrophy of tongue papillae | Hypertrophy of tongue papillae (disorder),SNOMEDCT ID:6971002,Hypertrophy of tongue papillae,ICD11 ID:DA03.4,hypertrophy of tongue papillae,MONDO:0001689,,,hypertrophy of tongue papillae,DOID:13333,ICD10 ID:K14.3, +BMGC_DS06231,BMG_DS018996,Hereditary hemochromatosis,UMLS ID:C0392514,Hereditary hemochromatosis | Familial hemochromatosis | Hereditary haemochromatosis | Familial haemochromatosis | Hereditary hemochromatosis (disorder) | Hemochromatosis | Bronzed cirrhosis | Pigmentary cirrhosis of liver | von Recklinghausen-Appelbaum disease | Iron storage disease | Familial hemochromatosis | Hereditary hemochromatosis | Primary hemochromatosis | Idiopathic hemochromatosis | Familial haemochromatosis | Hereditary haemochromatosis | Idiopathic haemochromatosis | Primary haemochromatosis | Bronzed diabetes | von Recklinghausen-Applebaum disease | Haemochromatosis | Hemochromatosis (disorder) | Hereditary hemochromatosis | Hereditary haemochromatosis | Hereditary haemochromatosis (disorder),SNOMEDCT ID:35400008 | SNOMEDCT ID:86781004 | SNOMEDCT ID:190845003,,,hereditary hemochromatosis,MONDO:0006507,,,,,ICD10 ID:E83.110, +BMGC_DS06232,BMG_DS018998,Nephrolithiasis,UMLS ID:C0392525,Kidney stone | Renal stone | Nephrolith | Renal calculus | Calculus of kidney | Nephrolithiasis | Kidney calculus | Kidney stone (disorder) | Kidney calculus (& [staghorn]) | Kidney calculus | Nephrolithiasis | Staghorn calculus | Kidney calculus (& [staghorn]) (disorder) | Staghorn calculus | Kidney calculus | Nephrolithiasis | Kidney calculus (& [staghorn]) | Kidney calculus (& [staghorn]) (disorder) | Nephrolithiasis | Nephrolithiasis (disorder),SNOMEDCT ID:95570007 | SNOMEDCT ID:266623004 | SNOMEDCT ID:155868000 | SNOMEDCT ID:56491003,,,nephrolithiasis,MONDO:0008171,Nephrolithiasis,MeSH ID:D053040,,,,OMIM ID:MTHU007103 +BMGC_DS06233,BMG_DS019001,Cauda Equina Syndrome,UMLS ID:C0392548,,,,,cauda equina syndrome,MONDO:0005693,Cauda Equina Syndrome,MeSH ID:D000077684,Cauda equina syndrome,DOID:11577,, +BMGC_DS06234,BMG_DS019003,"Hemiplegia, Infantile",UMLS ID:C0392550,,,,,,,Hemiplegia,MeSH ID:D006429,hemiplegia,DOID:10969,, +BMGC_DS06235,BMG_DS019004,Hereditary peripheral neuropathy,UMLS ID:C0392553,Hereditary motor and sensory neuropathy | CMT - Charcot-Marie-Tooth disease | HMSN - Hereditary motor and sensory neuropathy | Peroneal muscular atrophy | Hereditary peripheral neuropathy | HSMN - Hereditary sensory and motor neuropathy | Charcot-Marie-Tooth disease | Hereditary motor and sensory neuropathy (disorder) | Hereditary sensory-motor neuropathy | Hereditary sensory and motor neuropathy | Hereditary sensorimotor neuropathy | HSMN | HMSN | Hereditary motor and sensory neuropathy | Hereditary peripheral neuropathy | CMT - Charcot-Marie-Tooth disease | HSMN - Hereditary sensory and motor neuropathy | HMSN - Hereditary motor and sensory neuropathy | Charcot-Marie-Tooth disease | Peroneal muscular atrophy | Hereditary motor and sensory neuropathy (disorder) | Hereditary peripheral neuropathy | Hereditary peripheral neuropathy (disorder),SNOMEDCT ID:193158000 | SNOMEDCT ID:128202008 | SNOMEDCT ID:65017003,,,,,,,Charcot-Marie-Tooth disease type 2,DOID:0050539,, +BMGC_DS06236,BMG_DS019009,Severe combined immunodeficiency due to adenosine deaminase deficiency,UMLS ID:C0392607,,,,,,,,MeSH ID:C531816,,,ICD10 ID:D81.31, +BMGC_DS06237,BMG_DS019023,Herpes simplex without mention of complication,UMLS ID:C0392646,Herpes simplex | Herpes simplex infection | Herpes simplex viral infection | Herpes simplex (disorder) | Herpes simplex complex,SNOMEDCT ID:88594005,,,,,,,,,, +BMGC_DS06238,BMG_DS019024,Measles without mention of complication,UMLS ID:C0392650,Measles | Rubeola | Morbilli | Measles (disorder),SNOMEDCT ID:14189004,,,,,,,,,, +BMGC_DS06239,BMG_DS019028,Angiostrongyliasis,UMLS ID:C0392662,,,,,angiostrongyliasis,MONDO:0019143,,MeSH ID:C536369,angiostrongyliasis,DOID:0050256,, +BMGC_DS06240,BMG_DS019036,,UMLS ID:C0392788,,,,,extranodal nasal NK/T cell lymphoma,MONDO:0019472,,,,,, +BMGC_DS06241,BMG_DS019037,,UMLS ID:C0392998,,,,,ovarian carcinosarcoma,MONDO:0003792,,,ovarian carcinosarcoma,DOID:6170,, +BMGC_DS06242,BMG_DS019064,Non-infective meningitis,UMLS ID:C0393442,Non-infective meningitis | Non-infective meningitis (disorder),SNOMEDCT ID:230155003,,,,,,,,,, +BMGC_DS06243,BMG_DS019099,Rasmussen Syndrome,UMLS ID:C0393484,,,,,,,Encephalitis,MeSH ID:D004660,,,, +BMGC_DS06244,BMG_DS019118,"Cerebellar Ataxia, Early Onset",UMLS ID:C0393519,,,,,,,Spinocerebellar Degenerations,MeSH ID:D013132,,,, +BMGC_DS06245,BMG_DS019123,"Cerebellar Ataxia, Late Onset",UMLS ID:C0393524,,,,,,,Spinocerebellar Degenerations,MeSH ID:D013132,,,, +BMGC_DS06246,BMG_DS019124,Progressive cerebellar ataxia,UMLS ID:C0393525,Progressive cerebellar ataxia | Progressive cerebellar ataxia (disorder),SNOMEDCT ID:230233000,,,,,,,,,,OMIM ID:MTHU001770 +BMGC_DS06247,BMG_DS019135,"Muscular Atrophy, Spinal, Type II",UMLS ID:C0393538,,,,,"spinal muscular atrophy, type II",MONDO:0009673,Spinal Muscular Atrophies of Childhood,MeSH ID:D014897,intermediate spinal muscular atrophy,DOID:0050530,,OMIM ID:253550 +BMGC_DS06248,BMG_DS019136,Childhood Progressive Bulbar Palsy,UMLS ID:C0393540,,,,,,,"Bulbar Palsy, Progressive",MeSH ID:D010244,,,, +BMGC_DS06249,BMG_DS019137,Distal Spinal Muscular Atrophy,UMLS ID:C0393541,,,,,distal hereditary motor neuropathy,MONDO:0018894,"Muscular Atrophy, Spinal",MeSH ID:D009134,,,, +BMGC_DS06250,BMG_DS019141,Oculopharyngeal Spinal Muscular Atrophy,UMLS ID:C0393546,,,,,,,"Muscular Atrophy, Spinal",MeSH ID:D009134,,,, +BMGC_DS06251,BMG_DS019142,Bulbospinal Neuronopathy,UMLS ID:C0393547,,,,,bulbospinal muscular atrophy,MONDO:0016113,"Muscular Atrophy, Spinal",MeSH ID:D009134,,,, +BMGC_DS06252,BMG_DS019145,Madras-type motor neurone disease,UMLS ID:C0393551,Madras-type motor neurone disease | Madras-type motor neurone disease (disorder),SNOMEDCT ID:230255008,,,Madras motor neuron disease,MONDO:0015307,,,,,, +BMGC_DS06253,BMG_DS019148,Amyotrophic Lateral Sclerosis With Dementia,UMLS ID:C0393554,,,,,,,Amyotrophic Lateral Sclerosis,MeSH ID:D000690,,,, +BMGC_DS06254,BMG_DS019150,Complicated hereditary spastic paraplegia,UMLS ID:C0393556,Complicated hereditary spastic paraplegia | Complicated hereditary spastic paraplegia (disorder),SNOMEDCT ID:230261006,,,complex hereditary spastic paraplegia,MONDO:0015150,,,,,, +BMGC_DS06255,BMG_DS019152,Troyer syndrome,UMLS ID:C0393559,Troyer syndrome | Troyer syndrome (disorder),SNOMEDCT ID:230264003,,,Troyer syndrome,MONDO:0010156,,MeSH ID:C536858,,,,OMIM ID:275900 +BMGC_DS06256,BMG_DS019153,"Vascular Dementia, Acute Onset",UMLS ID:C0393560,,,,,,,"Dementia, Vascular",MeSH ID:D015140,,,, +BMGC_DS06257,BMG_DS019154,Subcortical Vascular Dementia,UMLS ID:C0393561,,,,,,,"Dementia, Vascular",MeSH ID:D015140,,,, +BMGC_DS06258,BMG_DS019160,,UMLS ID:C0393571,,,,,multiple system atrophy,MONDO:0007803,,,multiple system atrophy,DOID:4752,, +BMGC_DS06259,BMG_DS019162,"Huntington Disease, Late Onset",UMLS ID:C0393574,,,,,,,Huntington Disease,MeSH ID:D006816,,,, +BMGC_DS06260,BMG_DS019164,Neuroacanthocytosis,UMLS ID:C0393576,Choreoacanthocytosis | Choreoacanthocytosis (disorder),SNOMEDCT ID:66881004,,,chorea-acanthocytosis | neuroacanthocytosis,MONDO:0008695;MONDO:0016987,Neuroacanthocytosis,MeSH ID:D054546,choreaacanthocytosis | neuroacanthocytosis,DOID:0050766;DOID:0050765,,OMIM ID:200150 +BMGC_DS06261,BMG_DS019170,Benign Hereditary Chorea,UMLS ID:C0393584,,,,,hereditary progressive chorea without dementia,MONDO:0021011,Chorea,MeSH ID:D002819,,,,OMIM ID:118700 +BMGC_DS06262,BMG_DS019174,,UMLS ID:C0393588,,,,,paroxysmal dystonia,MONDO:0016058,,,,,, +BMGC_DS06263,BMG_DS019176,Fahr's syndrome (disorder),UMLS ID:C0393590,Fahr's syndrome | Idiopathic nonarteriosclerotic cerebrovascular calcification | Cerebral symmetric calcification | Cerebrovascular ferrocalcinosis | Fahr's syndrome (disorder) | Fahr disease | Fahr syndrome,SNOMEDCT ID:110997000,,,,,,,basal ganglia calcification,DOID:0060230,, +BMGC_DS06264,BMG_DS019177,Aicardi-Goutieres syndrome,UMLS ID:C0393591,,,,,Aicardi-Goutieres syndrome,MONDO:0018866,,MeSH ID:C535607,,,ICD10 ID:E79.81, +BMGC_DS06265,BMG_DS019179,Dystonia Disorders,UMLS ID:C0393593,,,,,,,Dystonic Disorders,MeSH ID:D020821,dystonia,DOID:543,, +BMGC_DS06266,BMG_DS019182,Idiopathic familial dystonia,UMLS ID:C0393598,Idiopathic familial dystonia | Idiopathic familial dystonia (disorder) | Genetic torsion dystonia | Idiopathic familial dystonia | Idiopathic familial dystonia (disorder),SNOMEDCT ID:230318005 | SNOMEDCT ID:192852006,"Primary dystonia, unspecified",ICD11 ID:8A02.0Z,familial idiopathic torsion dystonia,MONDO:0044816,,,generalized dystonia | dystonia 27 | dystonia 21 | torsion dystonia 1 | dopa-responsive dystonia | torsion dystonia 2 | torsion dystonia 4 | torsion dystonia 13 | myoclonic dystonia 11 | dystonia 25 | X-linked dystonia-parkinsonism | torsion dystonia 6 | torsion dystonia 17,DOID:0050835;DOID:0090039;DOID:0090034;DOID:0060730;DOID:0090046;DOID:0090041;DOID:0090037;DOID:0090050;DOID:0090055;DOID:0090042;DOID:0090043;DOID:0090057;DOID:0090038,ICD10 ID:G24.1, +BMGC_DS06267,BMG_DS019185,Idiopathic non-familial dystonia,UMLS ID:C0393601,Idiopathic non-familial dystonia | Idiopathic non-familial dystonia (disorder),SNOMEDCT ID:230321007,,,acquired idiopathic torsion dystonia,MONDO:0044817,,,generalized dystonia,DOID:0050835,, +BMGC_DS06268,BMG_DS019196,Familial Tremor,UMLS ID:C0393615,,,,,,,Essential Tremor,MeSH ID:D020329,,,, +BMGC_DS06269,BMG_DS019204,Opsoclonus-Myoclonus Syndrome,UMLS ID:C0393626,,,,,opsoclonus-myoclonus syndrome,MONDO:0015247,Opsoclonus-Myoclonus Syndrome,MeSH ID:D053578,,,, +BMGC_DS06270,BMG_DS019213,Hashimoto's encephalitis,UMLS ID:C0393639,,,,,steroid-responsive encephalopathy associated with autoimmune thyroiditis,MONDO:0019385,,MeSH ID:C535841,,,, +BMGC_DS06271,BMG_DS019232,"Multiple Sclerosis, Acute Relapsing",UMLS ID:C0393664,,,,,,,"Multiple Sclerosis, Relapsing-Remitting",MeSH ID:D020529,,,, +BMGC_DS06272,BMG_DS019233,"Multiple Sclerosis, Chronic Progressive",UMLS ID:C0393665,,,,,chronic progressive multiple sclerosis,MONDO:0005284,"Multiple Sclerosis, Chronic Progressive",MeSH ID:D020528,,,, +BMGC_DS06273,BMG_DS019234,"Multiple Sclerosis, Progressive Relapsing",UMLS ID:C0393666,,,,,progressive relapsing multiple sclerosis,MONDO:0000452,"Multiple Sclerosis, Chronic Progressive",MeSH ID:D020528,progressive relapsing multiple sclerosis,DOID:0050785,, +BMGC_DS06274,BMG_DS019235,Extrapontine Myelinolysis,UMLS ID:C0393667,,,,,,,"Myelinolysis, Central Pontine",MeSH ID:D017590,,,, +BMGC_DS06275,BMG_DS019239,"Frontal Epilepsy, Benign, Childhood",UMLS ID:C0393671,,,,,,,"Epilepsy, Frontal Lobe",MeSH ID:D017034,,,, +BMGC_DS06276,BMG_DS019240,"Epilepsy, Benign Psychomotor, Childhood",UMLS ID:C0393672,,,,,,,"Epilepsy, Temporal Lobe",MeSH ID:D004833,,,, +BMGC_DS06277,BMG_DS019243,Childhood Benign Occipital Epilepsy,UMLS ID:C0393675,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS06278,BMG_DS019244,Panayiotopoulos Syndrome,UMLS ID:C0393676,,,,,self-limited epilepsy with autonomic seizures,MONDO:0020307,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS06279,BMG_DS019247,Amygdalo-Hippocampal Epilepsy,UMLS ID:C0393679,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS06280,BMG_DS019249,Rhinencephalic Epilepsy,UMLS ID:C0393681,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS06281,BMG_DS019250,"Epilepsy, Lateral Temporal",UMLS ID:C0393682,,,,,,,"Epilepsy, Temporal Lobe",MeSH ID:D004833,,,, +BMGC_DS06282,BMG_DS019251,"Epilepsy, Supplementary Motor",UMLS ID:C0393683,,,,,,,"Epilepsy, Frontal Lobe",MeSH ID:D017034,,,, +BMGC_DS06283,BMG_DS019252,"Epilepsy, Cingulate",UMLS ID:C0393684,,,,,,,"Epilepsy, Frontal Lobe",MeSH ID:D017034,,,, +BMGC_DS06284,BMG_DS019254,"Epilepsy, Opercular",UMLS ID:C0393688,,,,,,,"Epilepsy, Frontal Lobe",MeSH ID:D017034,,,, +BMGC_DS06285,BMG_DS019257,Occipital Lobe Epilepsy,UMLS ID:C0393691,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS06286,BMG_DS019259,"Benign Neonatal Epilepsy, Nonfamilial",UMLS ID:C0393693,,,,,benign idiopathic neonatal seizures,MONDO:0018981,"Epilepsy, Benign Neonatal",MeSH ID:D020936,,,, +BMGC_DS06287,BMG_DS019260,"Early Childhood Epilepsy, Myoclonic",UMLS ID:C0393695,,,,,,,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS06288,BMG_DS019262,Cryptogenic Infantile Spasms,UMLS ID:C0393698,,,,,,,"Spasms, Infantile",MeSH ID:D013036,West syndrome,DOID:0050562,, +BMGC_DS06289,BMG_DS019263,Symptomatic Infantile Spasms,UMLS ID:C0393699,,,,,,,"Spasms, Infantile",MeSH ID:D013036,West syndrome,DOID:0050562,, +BMGC_DS06290,BMG_DS019266,Myoclonic Astatic Epilepsy,UMLS ID:C0393702,,,,,myoclonic-astatic epilepsy,MONDO:0016025,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS06291,BMG_DS019267,Myoclonic Absence Epilepsy,UMLS ID:C0393703,,,,,epilepsy with myoclonic absences,MONDO:0019487,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS06292,BMG_DS019268,Early infantile epileptic encephalopathy with suppression bursts,UMLS ID:C0393706,Early infantile epileptic encephalopathy with suppression bursts | Ohtahara syndrome | Early infantile epileptic encephalopathy with suppression bursts (disorder),SNOMEDCT ID:230429005,,,developmental and epileptic encephalopathy,MONDO:0100062,,,,,, +BMGC_DS06293,BMG_DS019275,"Reflex Epilepsy, Photosensitive",UMLS ID:C0393720,,,,,photosensitive epilepsy,MONDO:0015643,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS06294,BMG_DS019279,,UMLS ID:C0393724,,,,,tactile epilepsy,MONDO:0002340,,,tactile epilepsy,DOID:2550,, +BMGC_DS06295,BMG_DS019283,Immersion Related Epilepsy,UMLS ID:C0393729,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS06296,BMG_DS019286,Complex Partial Status Epilepticus,UMLS ID:C0393734,,,,,,,Status Epilepticus,MeSH ID:D013226,,,, +BMGC_DS06297,BMG_DS019287,Headache Disorders,UMLS ID:C0393735,,,,,headache disorder,MONDO:0021146,Headache Disorders,MeSH ID:D020773,,,, +BMGC_DS06298,BMG_DS019291,Episodic Cluster Headache,UMLS ID:C0393739,,,,,,,Cluster Headache,MeSH ID:D003027,,,, +BMGC_DS06299,BMG_DS019295,Atypical Cluster Headache,UMLS ID:C0393744,,,,,,,Cluster Headache,MeSH ID:D003027,,,, +BMGC_DS06300,BMG_DS019306,Delayed Sleep Phase Syndrome,UMLS ID:C0393770,,,,,"circadian rhythm sleep disorder, delayed sleep phase type",MONDO:0024377,"Sleep Disorders, Circadian Rhythm",MeSH ID:D020178,,,, +BMGC_DS06301,BMG_DS019309,Sleep-Related Bruxism,UMLS ID:C0393774,,,,,,,Sleep Bruxism,MeSH ID:D020186,bruxism,DOID:2846,, +BMGC_DS06302,BMG_DS019312,,UMLS ID:C0393778,,,,,isolated congenital anosmia,MONDO:0007137,,,,,,OMIM ID:107200 +BMGC_DS06303,BMG_DS019316,"Trigeminal Neuralgia, Idiopathic",UMLS ID:C0393786,,,,,,,Trigeminal Neuralgia,MeSH ID:D014277,,,, +BMGC_DS06304,BMG_DS019317,Secondary Trigeminal Neuralgia,UMLS ID:C0393787,,,,,,,Trigeminal Neuralgia,MeSH ID:D014277,,,, +BMGC_DS06305,BMG_DS019322,Miller Fisher Syndrome,UMLS ID:C0393799,,,Acute inflammatory demyelinating polyneuropathy,ICD11 ID:8C01.0,Miller Fisher syndrome,MONDO:0005851,Miller Fisher Syndrome,MeSH ID:D019846,Miller Fisher syndrome,DOID:12889,ICD10 ID:G61.0, +BMGC_DS06306,BMG_DS019327,Hereditary motor and sensory neuropathy with optic atrophy (disorder),UMLS ID:C0393807,"Hereditary sensory and motor neuropathy, type VI | Hereditary motor-sensory neuropathy, type VI | HMSN VI | Hereditary motor and sensory neuropathy with optic atrophy | Hereditary motor and sensory neuropathy with optic atrophy (disorder) | Hereditary motor and sensory neuropathy type VI | Hereditary motor-sensory neuropathy with optic atrophy",SNOMEDCT ID:128203003,,,hereditary motor and sensory neuropathy type 6,MONDO:0019551,,,,,, +BMGC_DS06307,BMG_DS019328,"Charcot-Marie-Tooth disease, X-linked, 1",UMLS ID:C0393808,,,,,Charcot-Marie-Tooth disease X-linked dominant 1,MONDO:0010549,,MeSH ID:C535919,,,,OMIM ID:302800 +BMGC_DS06308,BMG_DS019330,Hereditary liability to pressure palsies,UMLS ID:C0393814,Hereditary liability to pressure palsies | Tomaculous neuropathy | Hereditary liability to pressure palsies (disorder),SNOMEDCT ID:230558006,,,hereditary neuropathy with liability to pressure palsies,MONDO:0008087,,,hereditary neuropathy with liability to pressure palsies,DOID:0060843,,OMIM ID:162500 +BMGC_DS06309,BMG_DS019334,"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating",UMLS ID:C0393819,,,,,chronic inflammatory demyelinating polyradiculoneuropathy,MONDO:0006702,"Polyradiculoneuropathy, Chronic Inflammatory Demyelinating",MeSH ID:D020277,chronic inflammatory demyelinating polyradiculoneuropathy | chronic inflammatory demyelinating polyneuritis,DOID:5213;DOID:2536,, +BMGC_DS06310,BMG_DS019350,Diabetic Asymmetric Polyneuropathy,UMLS ID:C0393835,,,,,,,Diabetic Neuropathies,MeSH ID:D003929,,,, +BMGC_DS06311,BMG_DS019362,"Polyneuropathy, Critical Illness",UMLS ID:C0393851,,,,,critical illness polyneuropathy,MONDO:0001957,Polyneuropathies,MeSH ID:D011115,critical illness polyneuropathy,DOID:14402,, +BMGC_DS06312,BMG_DS019399,Segmental Autonomic Dysfunction,UMLS ID:C0393912,,,,,,,Autonomic Nervous System Diseases,MeSH ID:D001342,,,, +BMGC_DS06313,BMG_DS019411,Familial infantile myasthenia,UMLS ID:C0393929,Familial infantile myasthenia | FIM - Familial infantile myasthenia | Familial infantile myasthenia (disorder),SNOMEDCT ID:230670003,,,congenital myasthenic syndrome 6,MONDO:0009689,,,,,,OMIM ID:254210 +BMGC_DS06314,BMG_DS019420,Neuromuscular Junction Toxic Disorders,UMLS ID:C0393939,,,,,,,Neuromuscular Junction Diseases,MeSH ID:D020511,,,, +BMGC_DS06315,BMG_DS019430,Anterior Cerebral Circulation Infarction,UMLS ID:C0393953,,,,,,,Brain Infarction,MeSH ID:D020520,,,, +BMGC_DS06316,BMG_DS019457,Multicystic Encephalomalacia,UMLS ID:C0393992,,,,,,,Encephalomalacia,MeSH ID:D004678,,,, +BMGC_DS06317,BMG_DS019465,"Cerebral Palsy, Dystonic-Rigid",UMLS ID:C0394003,,,,,,,Cerebral Palsy,MeSH ID:D002547,,,, +BMGC_DS06318,BMG_DS019468,Dysequilibrium syndrome,UMLS ID:C0394006,"Dysequilibrium syndrome | Dysequilibrium syndrome (disorder) | Dysequilibrium syndrome | Dysequilibrium syndrome (disorder) | Disequilibrium syndrome | DES - dysequilibrium syndrome | Non-progressive cerebellar ataxia, intellectual disability syndrome | Uner Tan syndrome | Cerebellar ataxia, intellectual disability, dysequilibrium syndrome | CAMRQ syndrome",SNOMEDCT ID:213341009 | SNOMEDCT ID:230782004,,,"cerebellar ataxia, intellectual disability, and dysequilibrium",MONDO:0009133,,,"cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome",DOID:0050997,, +BMGC_DS06319,BMG_DS019469,"Cerebral Palsy, Atonic",UMLS ID:C0394007,,,,,hypotonic cerebral palsy,MONDO:0020695,Cerebral Palsy,MeSH ID:D002547,,,, +BMGC_DS06320,BMG_DS019474,"Coma, Post-Head Injury",UMLS ID:C0394016,,,,,,,"Coma, Post-Head Injury",MeSH ID:D020207,,,, +BMGC_DS06321,BMG_DS019477,,UMLS ID:C0395005,,,,,psychogenic polydipsia,MONDO:0040871,,,,,, +BMGC_DS06322,BMG_DS019493,Malignant otitis externa caused by Pseudomonas aeruginosa,UMLS ID:C0395818,Malignant otitis externa caused by Pseudomonas aeruginosa | Malignant otitis externa caused by Pseudomonas aeruginosa (disorder),SNOMEDCT ID:232230009,,,malignant otitis externa caused by Pseudomonas aeruginosa,MONDO:0041095,,,,,, +BMGC_DS06323,BMG_DS019512,Stenosis of external auditory canal,UMLS ID:C0395837,(Stenosis of external auditory canal) or (congenital stricture: [external auditory canal] or [osseous meatus]) | Congenital stricture of osseous meatus | Congenital stricture of external auditory canal | Stenosis of external auditory canal | (Stenosis of external auditory canal) or (congenital stricture: [external auditory canal] or [osseous meatus]) (disorder) | Stenosis of external auditory canal | Stenosis of ear canal | Stenosis of external auditory canal (disorder),SNOMEDCT ID:204231005 | SNOMEDCT ID:301061006,,,,,,,,,, +BMGC_DS06324,BMG_DS019515,Chronic tympanitis,UMLS ID:C0395849,Chronic tympanitis | Chronic myringitis | Chronic tympanitis (disorder),SNOMEDCT ID:89723004,Chronic myringitis,ICD11 ID:AB15,chronic tympanitis,MONDO:0001227,,,chronic tympanitis,DOID:11217,ICD10 ID:H73.1, +BMGC_DS06325,BMG_DS019520,Acute mucoid otitis media,UMLS ID:C0395863,Acute mucoid otitis media | Blue drum syndrome | Acute mucoid otitis media (disorder) | Acute non-suppurative otitis media - mucoid,SNOMEDCT ID:52353000,,,blue drum syndrome,MONDO:0004865,,,blue drum syndrome,DOID:9736,, +BMGC_DS06326,BMG_DS019521,Acute sanguineous otitis media,UMLS ID:C0395865,Acute sanguinous otitis media | Acute non-suppurative otitis media with haemotympanum | Acute non-suppurative otitis media with hemotympanum | Acute non-suppurative otitis media - sanguinous | Acute non-suppurative otitis media - bloody | Acute sanguineous otitis media (disorder) | Acute sanguineous otitis media,SNOMEDCT ID:77478005,,,acute sanguinous otitis media,MONDO:0002737,,,acute sanguinous otitis media,DOID:3696,, +BMGC_DS06327,BMG_DS019552,Recurrent Vestibular Neuritis,UMLS ID:C0395932,,,,,,,Vestibular Neuronitis,MeSH ID:D020338,,,, +BMGC_DS06328,BMG_DS019558,"Tinnitus, Noise Induced",UMLS ID:C0395955,,,,,,,Tinnitus,MeSH ID:D014012,,,, +BMGC_DS06329,BMG_DS019607,Chronic adenoiditis,UMLS ID:C0396023,Chronic adenoiditis | Chronic tonsillitis | (Chronic tonsillitis) or (chronic adenoiditis) | (Chronic tonsillitis) or (chronic adenoiditis) (disorder) | Chronic adenoiditis | Chronic adenoiditis (disorder),SNOMEDCT ID:195794009 | SNOMEDCT ID:232420002,,,,,,,adenoiditis,DOID:0050145,ICD10 ID:J35.02, +BMGC_DS06330,BMG_DS019628,Congenital laryngeal abductor palsy,UMLS ID:C0396059,Congenital laryngeal abductor palsy | Congenital laryngeal abductor palsy (disorder) | Congenital laryngeal abductor palsy | Gerhardt syndrome | Congenital laryngeal abductor paralysis | Congenital laryngeal abductor palsy (disorder),SNOMEDCT ID:253738002 | SNOMEDCT ID:232442001,,,laryngeal abductor paralysis,MONDO:0007876,,,,,,OMIM ID:150260 +BMGC_DS06331,BMG_DS019629,Congenital laryngeal adductor palsy,UMLS ID:C0396060,Congenital laryngeal adductor paralysis | Congenital laryngeal adductor palsy | Congenital laryngeal adductor palsy (disorder) | Congenital laryngeal adductor palsy | Congenital laryngeal adductor palsy (disorder),SNOMEDCT ID:232443006 | SNOMEDCT ID:253739005,,,laryngeal adductor paralysis,MONDO:0007877,,,,,,OMIM ID:150270 +BMGC_DS06332,BMG_DS019636,,UMLS ID:C0396072,,,,,laryngeal papillomatosis,MONDO:0023597,,,,,, +BMGC_DS06333,BMG_DS019642,Trousseau's syndrome,UMLS ID:C0398359,Thrombophlebitis migrans | Trousseau's syndrome | Migratory thrombophlebitis | Thrombophlebitis migrans (disorder),SNOMEDCT ID:31268005,,,,,,,,,, +BMGC_DS06334,BMG_DS019647,,UMLS ID:C0398368,,,,,lymphatic malformation,MONDO:0019313,,,,,, +BMGC_DS06335,BMG_DS019649,Lipedema,UMLS ID:C0398370,Lipedema | Lipoedema | Lipedema (disorder),SNOMEDCT ID:234102003,,,Lipedema,MONDO:0013577,Lipedema,MeSH ID:D065134,,,,OMIM ID:614103 +BMGC_DS06336,BMG_DS019669,Triose phosphate isomerase deficiency,UMLS ID:C0398562,Triose phosphate isomerase deficiency | TPI - Thiose phosphate isomerase deficiency | Triose phosphate isomerase deficiency (disorder) | Deficiency of phosphotriose isomerase | Deficiency of triosephosphate mutase,SNOMEDCT ID:234405009,,,,,,,,,, +BMGC_DS06337,BMG_DS019672,Blood group deletion syndrome,UMLS ID:C0398568,Blood group deletion syndrome | Blood group deletion syndrome (disorder) | McLeod syndrome,SNOMEDCT ID:234411007,,,McLeod neuroacanthocytosis syndrome,MONDO:0018945,,,McLeod syndrome,DOID:0112107,,OMIM ID:300842 +BMGC_DS06338,BMG_DS019689,Specific granule deficiency,UMLS ID:C0398593,Specific granule deficiency | SGD - Specific granule deficiency | Specific granule deficiency (disorder),SNOMEDCT ID:234431006,,,specific granule deficiency,MONDO:0009506,,,,,, +BMGC_DS06339,BMG_DS019690,Myeloperoxidase Deficiency,UMLS ID:C0398595,,,,,myeloperoxidase deficiency,MONDO:0009694,,MeSH ID:C562864,,,,OMIM ID:254600 +BMGC_DS06340,BMG_DS019708,Hypoplasminogenemia,UMLS ID:C0398621,Hypoplasminogenemia | Plasminogen deficiency | Hypoplasminogenaemia | Hypoplasminogenemia (disorder),SNOMEDCT ID:95840007,,,,,,MeSH ID:C580017,plasminogen deficiency type I,DOID:0111592,ICD10 ID:E88.02, +BMGC_DS06341,BMG_DS019710,Thrombophilia,UMLS ID:C0398623,Thrombophilia | Thrombophilia (disorder),SNOMEDCT ID:191302007 | SNOMEDCT ID:234467004,,,thrombophilia,MONDO:0002305,Thrombophilia,MeSH ID:D019851,thrombophilia,DOID:2452,,OMIM ID:MTHU054815 +BMGC_DS06342,BMG_DS019711,Protein C Deficiency,UMLS ID:C0398625,,,,,,,Protein C Deficiency,MeSH ID:D020151,protein C deficiency,DOID:3756,, +BMGC_DS06343,BMG_DS019712,Heparin cofactor II deficiency (disorder),UMLS ID:C0398626,Heparin cofactor II deficiency | Heparin cofactor II deficiency (disorder),SNOMEDCT ID:234468009,,,heparin cofactor 2 deficiency,MONDO:0012876,,,heparin cofactor II deficiency,DOID:0111901,,OMIM ID:612356 +BMGC_DS06344,BMG_DS019719,Thromboxane synthetase deficiency,UMLS ID:C0398635,Thromboxane synthetase deficiency | Thromboxane synthetase deficiency (disorder),SNOMEDCT ID:234477002,,,platelet-type bleeding disorder 14,MONDO:0013597,,,,,,OMIM ID:614158 +BMGC_DS06345,BMG_DS019732,Immune thrombocytopenic purpura,UMLS ID:C0398650,Immune thrombocytopenic purpura | Immune thrombocytopenic purpura (disorder) | Idiopathic thrombocytopenic purpura | Immune thrombocytopenic purpura | ITP - immune thrombocytopenic purpura | Immune thrombocytopenic purpura (disorder),SNOMEDCT ID:234490009 | SNOMEDCT ID:32273002,Immune thrombocytopenic purpura,ICD11 ID:3B64.10,autoimmune thrombocytopenic purpura,MONDO:0008558,,,autoimmune thrombocytopenic purpura,DOID:8924,ICD10 ID:D69.3,OMIM ID:188030 +BMGC_DS06346,BMG_DS019737,Chronic congestive splenomegaly,UMLS ID:C0398661,Chronic congestive splenomegaly (disorder) | Chronic congestive splenomegaly,SNOMEDCT ID:191382009,Chronic congestive splenomegaly,ICD11 ID:3B81.C,chronic congestive splenomegaly,MONDO:0001367,,,chronic congestive splenomegaly,DOID:11787,ICD10 ID:D73.2, +BMGC_DS06347,BMG_DS019749,Cerebral sarcoidosis,UMLS ID:C0398676,Cerebral sarcoidosis | Cerebral sarcoidosis (disorder),SNOMEDCT ID:111936002,,,cerebral sarcoidosis,MONDO:0001706,,,neurosarcoidosis,DOID:13403,, +BMGC_DS06348,BMG_DS019757,Primary immune deficiency disorder,UMLS ID:C0398686,Primary immune deficiency disorder | Primary immune deficiency disorder (disorder) | Primary immunodeficiency,SNOMEDCT ID:58606001,,,inborn error of immunity,MONDO:0003778,,,,,, +BMGC_DS06349,BMG_DS019760,"Hyper-IgM Immunodeficiency Syndrome, Type 1",UMLS ID:C0398689,,,,,hyper-IgM syndrome type 1,MONDO:0010626,"Hyper-IgM Immunodeficiency Syndrome, Type 1",MeSH ID:D053307,X-linked hyper IgM syndrome,DOID:6620,,OMIM ID:308230 +BMGC_DS06350,BMG_DS019761,Hyperimmunoglobulinemia D,UMLS ID:C0398691,,,,,hyperimmunoglobulinemia D with periodic fever,MONDO:0009849,Mevalonate Kinase Deficiency,MeSH ID:D054078,mevalonic aciduria,DOID:0050452,,OMIM ID:260920 +BMGC_DS06351,BMG_DS019763,Selective immunoglobulin E deficiency,UMLS ID:C0398694,Selective IgE deficiency | Selective immunoglobulin E deficiency | Selective immunoglobulin E deficiency (disorder),SNOMEDCT ID:234540007,,,selective IgE deficiency disease,MONDO:0003738,,,selective IgE deficiency disease,DOID:6024,, +BMGC_DS06352,BMG_DS019764,Selective immunoglobulin D deficiency,UMLS ID:C0398695,Selective immunoglobulin D deficiency | Selective IgD deficiency | Selective immunoglobulin D deficiency (disorder),SNOMEDCT ID:234541006,,,selective IgD deficiency disease,MONDO:0004165,,,selective IgD deficiency disease,DOID:7263,, +BMGC_DS06353,BMG_DS019778,Secretory Component Deficiency,UMLS ID:C0398709,,,,,secretory component deficiency,MONDO:0010019,,MeSH ID:C562869,,,,OMIM ID:269650 +BMGC_DS06354,BMG_DS019799,Leukocyte adhesion deficiency type 1,UMLS ID:C0398738,,,,,leukocyte adhesion deficiency 1,MONDO:0007293,,MeSH ID:C535887,,,,OMIM ID:116920 +BMGC_DS06355,BMG_DS019800,"Congenital disorder of glycosylation, type 2C",UMLS ID:C0398739,,,,,leukocyte adhesion deficiency type II,MONDO:0009953,,MeSH ID:C535755,congenital disorder of glycosylation type IIc,DOID:0070255,,OMIM ID:266265 +BMGC_DS06356,BMG_DS019801,Tuftsin Deficiency,UMLS ID:C0398741,,,,,Tuftsin deficiency,MONDO:0008613,,MeSH ID:C562872,,,,OMIM ID:191150 +BMGC_DS06357,BMG_DS019805,Gluthathione synthetase deficiency,UMLS ID:C0398746,Glutathione synthetase deficiency | Glutathione synthetase deficiency (disorder) | Pyroglutamicaciduria,SNOMEDCT ID:234589002,,,glutathione synthetase deficiency with 5-oxoprolinuria,MONDO:0009947,,,,,,OMIM ID:266130 +BMGC_DS06358,BMG_DS019806,Gluthathione peroxidase deficiency,UMLS ID:C0398747,Gluthathione peroxidase deficiency | Gluthathione peroxidase deficiency (disorder),SNOMEDCT ID:234590006,,,gluthathione peroxidase deficiency,MONDO:0013601,,,,,,OMIM ID:614164 +BMGC_DS06359,BMG_DS019808,Classical complement pathway abnormality,UMLS ID:C0398750,Classical complement pathway abnormality | Classical complement pathway abnormality (disorder),SNOMEDCT ID:234593008,,,immunodeficiency due to a classical component pathway complement deficiency,MONDO:0015699,,,,,, +BMGC_DS06360,BMG_DS019820,Properdin deficiency disease,UMLS ID:C0398762,Properdin deficiency disease | Properdin deficiency | Properdin deficiency disease (disorder),SNOMEDCT ID:81166004,,,,,,,X-linked properdin deficiency,DOID:0111768,, +BMGC_DS06361,BMG_DS019822,Complement Factor D Deficiency,UMLS ID:C0398764,,,,,recurrent Neisseria infections due to factor D deficiency,MONDO:0013487,,MeSH ID:C565027,,,,OMIM ID:613912 +BMGC_DS06362,BMG_DS019823,Terminal component deficiency,UMLS ID:C0398765,Terminal component deficiency | Terminal component deficiency (disorder),SNOMEDCT ID:234608003,,,immunodeficiency due to a late component of complement deficiency,MONDO:0015700,,,,,, +BMGC_DS06363,BMG_DS019833,Hereditary C1 esterase inhibitor deficiency - deficient factor,UMLS ID:C0398775,Hereditary C1 esterase inhibitor deficiency - deficient factor | C1 esterase inhibitor deficiency - type 1 | Hereditary angioneurotic oedema - type 1 | Hereditary angio-oedema - type 1 | Hereditary angioneurotic edema - type 1 | Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder) | Hereditary angioedema - type 1,SNOMEDCT ID:234619000,,,,,,,,,, +BMGC_DS06364,BMG_DS019834,Hereditary C1 esterase inhibitor deficiency - dysfunctional factor,UMLS ID:C0398776,Hereditary angioneurotic edema - type 2 | Hereditary angio-oedema - type 2 | Hereditary angioneurotic oedema - type 2 | C1 esterase inhibitor deficiency - type 2 | Hereditary C1 esterase inactivity | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (disorder) | Hereditary angioedema - type 2,SNOMEDCT ID:234620006,,,hereditary angioedema type 2,MONDO:0015054,,,,,, +BMGC_DS06365,BMG_DS019835,Complement Factor H Deficiency,UMLS ID:C0398777,,,,,complement factor H deficiency,MONDO:0012350,,MeSH ID:C562875,,,,OMIM ID:609814 +BMGC_DS06366,BMG_DS019840,Carboxypeptidase N Deficiency,UMLS ID:C0398782,,,,,carboxypeptidase N deficiency,MONDO:0008910,,MeSH ID:C562876,carboxypeptidase N deficiency,DOID:0111583,,OMIM ID:212070 +BMGC_DS06367,BMG_DS019846,"Immunodeficiency syndrome, variable",UMLS ID:C0398788,,,,,immunodeficiency-centromeric instability-facial anomalies syndrome,MONDO:0000133,,MeSH ID:C537362,,,, +BMGC_DS06368,BMG_DS019849,Nijmegen Breakage Syndrome,UMLS ID:C0398791,,,,,Nijmegen breakage syndrome,MONDO:0009623,Nijmegen Breakage Syndrome,MeSH ID:D049932,Nijmegen breakage syndrome,DOID:7400,,OMIM ID:251260 +BMGC_DS06369,BMG_DS019852,Hypopigmentation-immunodeficiency disease,UMLS ID:C0398794,Hypopigmentation-immunodeficiency disease | Griscelli syndrome | Chediak-Higashi-like syndrome | Griscelli syndrome with immunodeficiency | Partial albinism with immunodeficiency | Hypopigmentation-immunodeficiency disease (disorder),SNOMEDCT ID:37548006,,,Griscelli syndrome,MONDO:0018306,,,,,, +BMGC_DS06370,BMG_DS019858,Other diseases of hard tissues of teeth,UMLS ID:C0399347,,,,,,,,,,,ICD10 ID:K03, +BMGC_DS06371,BMG_DS019859,,UMLS ID:C0399352,,,,,anodontia,MONDO:0008797,,,anodontia | tooth agenesis,DOID:0050591;DOID:13714,,OMIM ID:206780 +BMGC_DS06372,BMG_DS019864,,UMLS ID:C0399367,,,,,amelogenesis imperfecta type 1,MONDO:0015047,,,,,, +BMGC_DS06373,BMG_DS019865,"Amelogenesis Imperfecta, Type IB",UMLS ID:C0399368,,,,,amelogenesis imperfecta type 1B,MONDO:0007092,,MeSH ID:C562879,,,,OMIM ID:104500 +BMGC_DS06374,BMG_DS019866,,UMLS ID:C0399372,,,,,amelogenesis imperfecta type 2,MONDO:0015048,,,,,, +BMGC_DS06375,BMG_DS019867,"Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism",UMLS ID:C0399373,"Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism | Amelogenesis imperfecta - hypomaturation - autosomal dominant - hypoplastic with taurodontism | Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism (disorder)",SNOMEDCT ID:109472008,,,,,,,,,, +BMGC_DS06376,BMG_DS019868,"Amelogenesis Imperfecta, Type III",UMLS ID:C0399376,,,,,hypocalcified amelogenesis imperfecta,MONDO:0968955,,MeSH ID:C562880,amelogenesis imperfecta type 3,DOID:0111721,, +BMGC_DS06377,BMG_DS019870,,UMLS ID:C0399378,,,,,dentinogenesis imperfecta type 3,MONDO:0007442,,,,,,OMIM ID:125500 +BMGC_DS06378,BMG_DS019871,"Dentin dysplasia, type 1",UMLS ID:C0399379,,,,,dentin dysplasia type I,MONDO:0007436,,MeSH ID:C538215,,,,OMIM ID:125400 +BMGC_DS06379,BMG_DS019879,Tooth surface loss,UMLS ID:C0399400,Tooth surface loss | Tooth substance loss | Tooth surface loss (disorder),SNOMEDCT ID:234977009,,,,,,,enamel erosion,DOID:2497,, +BMGC_DS06380,BMG_DS019898,Hereditary gingival fibromatosis,UMLS ID:C0399440,Hereditary gingival fibromatosis | Hereditary fibrous enlargement of gingiva | Hereditary gingival fibromatosis (disorder),SNOMEDCT ID:109620006,,,hereditary gingival fibromatosis,MONDO:0016070,,,gingival fibromatosis,DOID:0060466,, +BMGC_DS06381,BMG_DS019931,,UMLS ID:C0399526,,,,,autosomal dominant prognathism,MONDO:0008312,,,,,,OMIM ID:176700 +BMGC_DS06382,BMG_DS019957,,UMLS ID:C0399605,,,,,commissural lip pits,MONDO:0007359,,,,,,OMIM ID:120500 +BMGC_DS06383,BMG_DS019965,"Colitis, Microscopic",UMLS ID:C0400821,,,,,microscopic colitis,MONDO:0000702,"Colitis, Microscopic",MeSH ID:D046728,microscopic colitis,DOID:0060182,, +BMGC_DS06384,BMG_DS019966,"Colitis, Lymphocytic",UMLS ID:C0400822,,,,,lymphocytic colitis,MONDO:0000704,"Colitis, Lymphocytic",MeSH ID:D046730,lymphocytic colitis,DOID:0060184,, +BMGC_DS06385,BMG_DS019967,Neutropenic colitis,UMLS ID:C0400823,Neutropenic colitis | Neutropenic colitis (disorder),SNOMEDCT ID:235755005,,,,,,,,,, +BMGC_DS06386,BMG_DS019972,Ulcer of anus and rectum,UMLS ID:C0400832,,,Ulcer of anus,ICD11 ID:DB52,ulcer of anus and rectum,MONDO:0001772,,,ulcer of anus and rectum,DOID:13662,ICD10 ID:K62.6, +BMGC_DS06387,BMG_DS019991,Postoperative ileus,UMLS ID:C0400877,Postoperative ileus | Postoperative ileus (disorder),SNOMEDCT ID:235833007,,,,,,,,,, +BMGC_DS06388,BMG_DS020017,Acute hepatitis C,UMLS ID:C0400914,Acute hepatitis C | Acute hepatitis C (disorder),SNOMEDCT ID:235866006,Acute hepatitis C,ICD11 ID:1E50.2,,,,,,,ICD10 ID:B17.1, +BMGC_DS06389,BMG_DS020020,Chronic viral hepatitis B with hepatitis D,UMLS ID:C0400918,Chronic viral hepatitis B with hepatitis D | Chronic viral hepatitis B with hepatitis D (disorder) | Chronic viral hepatitis B with hepatitis D | Chronic viral hepatitis B with delta-agent | Chronic viral hepatitis B with hepatitis D (disorder),SNOMEDCT ID:186638006 | SNOMEDCT ID:235869004,,,,,,,,,, +BMGC_DS06390,BMG_DS020022,Vascular disorder of liver,UMLS ID:C0400923,Vascular disorder of liver | Vascular disorder of liver (disorder),SNOMEDCT ID:235878005,,,hepatic vascular disorder,MONDO:0002405,,,hepatic vascular disease,DOID:272,, +BMGC_DS06391,BMG_DS020054,"Hyperbilirubinemia, Conjugated, Type III",UMLS ID:C0400964,,,,,"hyperbilirubinemia, conjugated, type 3",MONDO:0009381,,MeSH ID:C562885,,,,OMIM ID:237550 +BMGC_DS06392,BMG_DS020056,Non-alcoholic Fatty Liver Disease,UMLS ID:C0400966,,,,,metabolic dysfunction-associated steatotic liver disease,MONDO:0013209,Non-alcoholic Fatty Liver Disease,MeSH ID:D065626,metabolic dysfunction-associated steatotic liver disease,DOID:0080208,, +BMGC_DS06393,BMG_DS020112,Chronic diarrhea,UMLS ID:C0401151,(Chronic diarrhoea) or (other non-infective gastroenteritis and colitis NOS) | Chronic diarrhoea | Chronic diarrhea | (Chronic diarrhea) or (other non-infective gastroenteritis and colitis NOS) | Other non-infective gastroenteritis and colitis NOS | (Chronic diarrhoea) or (other non-infective gastroenteritis and colitis NOS) (disorder) | Chronic diarrhea | Chronic diarrhoea | Chronic diarrhea (disorder),SNOMEDCT ID:197034002 | SNOMEDCT ID:236071009,,,chronic diarrheal disease,MONDO:0044751,,,,,,OMIM ID:MTHU004140 +BMGC_DS06394,BMG_DS020150,Steroid-Sensitive Nephrotic Syndrome,UMLS ID:C0403396,,,,,nephrotic syndrome of childhood - steroid sensitive,MONDO:0044781,Nephrotic Syndrome,MeSH ID:D009404,,,, +BMGC_DS06395,BMG_DS020151,Steroid-resistant nephrotic syndrome,UMLS ID:C0403397,Steroid-unresponsive nephrotic syndrome | SRNS - Steroid-resistant nephrotic syndrome | Steroid-resistant nephrotic syndrome | Steroid-resistant nephrotic syndrome (disorder),SNOMEDCT ID:236381000,,,steroid-resistant nephrotic syndrome,MONDO:0044765,,,,,,OMIM ID:MTHU062745 +BMGC_DS06396,BMG_DS020152,Steroid-Dependent Nephrotic Syndrome,UMLS ID:C0403398,,,,,,,Nephrotic Syndrome,MeSH ID:D009404,,,, +BMGC_DS06397,BMG_DS020153,Finnish congenital nephrotic syndrome,UMLS ID:C0403399,Finnish congenital nephrotic syndrome | CNF - Finnish congenital nephrotic syndrome | Congenital Finnish nephrosis | Finnish congenital nephrotic syndrome (disorder),SNOMEDCT ID:197601003,,,"congenital nephrotic syndrome, Finnish type",MONDO:0009732,,,nephrotic syndrome type 1,DOID:0080390,,OMIM ID:256300 +BMGC_DS06398,BMG_DS020165,Acute post-streptococcal glomerulonephritis,UMLS ID:C0403414,Acute post-streptococcal glomerulonephritis | Post-streptococcal glomerulonephritis | PSGN - post-streptococcal glomerulonephritis | Acute glomerulonephritis due to and following streptococcal infection | Acute glomerulonephritis due to and following streptococcal infection (disorder),SNOMEDCT ID:68544003,,,acute poststreptococcal glomerulonephritis,MONDO:0001870,,,acute poststreptococcal glomerulonephritis,DOID:14064,, +BMGC_DS06399,BMG_DS020167,Idiopathic crescentic glomerulonephritis,UMLS ID:C0403416,Idiopathic crescentic glomerulonephritis | Idiopathic crescentic glomerulonephritis (disorder) | Idiopathic crescentic glomerulonephritis | Crescentic glomerulonephritis | CGN - Crescentic glomerulonephritis | Crescentic glomerulonephritis (disorder) | Proliferative crescentic glomerulonephritis,SNOMEDCT ID:45406000 | SNOMEDCT ID:236398000,,,crescentic glomerulonephritis,MONDO:0001645,,,crescentic glomerulonephritis,DOID:13139,, +BMGC_DS06400,BMG_DS020189,"Renal Failure, Progressive, with Hypertension",UMLS ID:C0403443,,,,,autosomal dominant progressive nephropathy with hypertension,MONDO:0008071,,MeSH ID:C562889,,,,OMIM ID:161900 +BMGC_DS06401,BMG_DS020192,Chronic Kidney Insufficiency,UMLS ID:C0403447,,,,,,,"Renal Insufficiency, Chronic",MeSH ID:D051436,,,, +BMGC_DS06402,BMG_DS020202,End stage renal failure on dialysis,UMLS ID:C0403464,End stage renal failure on dialysis | End stage renal failure on dialysis (disorder),SNOMEDCT ID:236435004,,,,,,,,,, +BMGC_DS06403,BMG_DS020205,,UMLS ID:C0403468,,,,,acute papillary necrosis,MONDO:0041295,,,,,, +BMGC_DS06404,BMG_DS020247,Acute scleroderma renal crisis,UMLS ID:C0403527,Acute scleroderma renal crisis | Acute scleroderma renal crisis (disorder),SNOMEDCT ID:236503001,,,,,,,,,, +BMGC_DS06405,BMG_DS020249,Anti-Glomerular Basement Membrane Disease,UMLS ID:C0403529,,,,,anti-glomerular basement membrane disease,MONDO:0009303,Anti-Glomerular Basement Membrane Disease,MeSH ID:D019867,Goodpasture syndrome,DOID:9808,,OMIM ID:233450 +BMGC_DS06406,BMG_DS020267,Salcedo syndrome,UMLS ID:C0403548,,,,,nail-patella-like renal disease,MONDO:0009724,,MeSH ID:C537228,,,,OMIM ID:256020 +BMGC_DS06407,BMG_DS020269,"Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness",UMLS ID:C0403551,,,,,"prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness",MONDO:0009913,,MeSH ID:C562894,,,,OMIM ID:264140 +BMGC_DS06408,BMG_DS020271,Renal dysplasia and retinal aplasia (disorder),UMLS ID:C0403553,Renal dysplasia and retinal aplasia | Loken Senior syndrome | Renal dysplasia and retinal aplasia (disorder),SNOMEDCT ID:236531005,,,Senior-Loken syndrome,MONDO:0017842,,,,,, +BMGC_DS06409,BMG_DS020272,"Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness",UMLS ID:C0403554,,,,,"renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss",MONDO:0009968,,MeSH ID:C562897,,,,OMIM ID:267300 +BMGC_DS06410,BMG_DS020273,Ochoa syndrome,UMLS ID:C0403555,Ochoa syndrome | Ochoa syndrome (disorder),SNOMEDCT ID:236533008,,,Ochoa syndrome,MONDO:0000463,,MeSH ID:C536480,urofacial syndrome,DOID:0050816,, +BMGC_DS06411,BMG_DS020275,Glomerulopathy with Giant Fibrillar Deposits,UMLS ID:C0403557,,,,,glomerulopathy with fibronectin deposits 1,MONDO:0024527,,MeSH ID:C562900,,,,OMIM ID:137950 +BMGC_DS06412,BMG_DS020277,Dialysis disequilibrium syndrome,UMLS ID:C0403559,Dialysis disequilibrium syndrome | Dialysis disequilibrium | Dialysis disequilibrium syndrome (disorder) | Dialysis dysequilibrium syndrome | DDS - dialysis disequilibrium syndrome,SNOMEDCT ID:87235005,,,,,,,dialysis disequilibrium syndrome,DOID:0070564,, +BMGC_DS06413,BMG_DS020282,Adynamic bone disease,UMLS ID:C0403566,Adynamic bone disease | Adynamic bone disease (disorder) | Aplastic bone disease,SNOMEDCT ID:236552002,,,,,,,,,, +BMGC_DS06414,BMG_DS020307,Disorder of ureter,UMLS ID:C0403608,Disorder of ureter | Disorder of ureter (disorder),SNOMEDCT ID:128073008,,,ureteral disorder,MONDO:0001926,,,ureteral disease,DOID:1426,, +BMGC_DS06415,BMG_DS020323,,UMLS ID:C0403653,,,,,disorder of neck of urinary bladder,MONDO:0041154,,,,,, +BMGC_DS06416,BMG_DS020324,Obstruction of urinary bladder outflow,UMLS ID:C0403654,Bladder outflow obstruction | Obstruction of urinary bladder outflow (disorder) | Obstruction of urinary bladder outflow | BOO - bladder outflow obstruction,SNOMEDCT ID:236645006,,,,,,,,,, +BMGC_DS06417,BMG_DS020346,Uric acid urolithiasis,UMLS ID:C0403719,Uric acid urolithiasis | Uric acid urolithiasis (disorder),SNOMEDCT ID:267441009,,,,,,,uric acid nephrolithiasis,DOID:580,,OMIM ID:MTHU037371 +BMGC_DS06418,BMG_DS020347,X-linked recessive nephrolithiasis with renal failure,UMLS ID:C0403720,X-linked recessive nephrolithiasis with renal failure | X-linked recessive nephrolithiasis with renal failure (disorder),SNOMEDCT ID:236713006,,,"nephrolithiasis, X-linked recessive, with renal failure",MONDO:0010687,,,,,,OMIM ID:310468 +BMGC_DS06419,BMG_DS020353,Perforation of uterus caused by intrauterine contraceptive device,UMLS ID:C0403745,Uterine perforation by intrauterine contraceptive device | Perforation of uterus caused by intrauterine contraceptive device (disorder) | Perforation of uterus caused by intrauterine contraceptive device | IUD (intrauterine contraceptive device) perforation of uterus | IUCD (intrauterine contraceptive device) perforation of uterus,SNOMEDCT ID:236738001,,,,,,,,,, +BMGC_DS06420,BMG_DS020385,Oligosynaptic Infertility,UMLS ID:C0403810,,,,,spermatogenic failure 1,MONDO:0009776,,MeSH ID:C562902,,,,OMIM ID:258150 +BMGC_DS06421,BMG_DS020386,Congenital impairment of spermatozoa motility,UMLS ID:C0403811,Congenital impairment of sperm motility | Congenital impairment of spermatozoa motility (disorder) | Congenital impairment of spermatozoa motility,SNOMEDCT ID:236805000,,,,,,,,,, +BMGC_DS06422,BMG_DS020387,"Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa",UMLS ID:C0403812,,,,,spermatogenic failure 5,MONDO:0009461,,MeSH ID:C562903,spermatogenic failure 5,DOID:0070183,,OMIM ID:243060 +BMGC_DS06423,BMG_DS020388,,UMLS ID:C0403814,,,,,congenital bilateral aplasia of vas deferens from CFTR mutation,MONDO:0010178,,,,,,OMIM ID:277180 +BMGC_DS06424,BMG_DS020395,Asthenozoospermia,UMLS ID:C0403823,,,,,,,Asthenozoospermia,MeSH ID:D053627,,,,OMIM ID:MTHU062248 +BMGC_DS06425,BMG_DS020396,Teratozoospermia,UMLS ID:C0403824,Teratozoospermia | Teratozoospermia (disorder),SNOMEDCT ID:236817003,,,,,Teratozoospermia,MeSH ID:D000072660,spermatogenic failure 6,DOID:0070167,,OMIM ID:MTHU064721 +BMGC_DS06426,BMG_DS020397,,UMLS ID:C0403825,,,,,spermatogenic failure 6,MONDO:0007060,,,,,,OMIM ID:102530 +BMGC_DS06427,BMG_DS020698,Pubertal breast hypertrophy,UMLS ID:C0405471,Pubertal breast hypertrophy | Diffuse hypertrophy of breast | Juvenile mammary hypertrophy | Pubertal breast hypertrophy (disorder) | Adolescent macromastia,SNOMEDCT ID:198113009,,,familial juvenile hypertrophy of the breast,MONDO:0007237,,,,,,OMIM ID:113670 +BMGC_DS06428,BMG_DS020710,Adrenal cortical hypofunction,UMLS ID:C0405580,Adrenal cortical hypofunction | Hypoadrenocorticism | Corticoadrenal insufficiency | Adrenal insufficiency | Adrenocortical hypofunction | Primary hypoadrenalism | Adrenal cortical hypofunction (disorder) | Adrenal cortical hypofunction (disorder) | Adrenal cortical hypofunction | Adrenocortical hypofunction | Hypoadrenocorticism | Adrenal insufficiency | Corticoadrenal insufficiency,SNOMEDCT ID:68588005 | SNOMEDCT ID:386584007,,,adrenocortical insufficiency,MONDO:0000004,,,adrenal cortical hypofunction,DOID:10493,, +BMGC_DS06429,BMG_DS020803,Cutaneous listeriosis,UMLS ID:C0406143,Cutaneous listeriosis (disorder) | Cutaneous listeriosis | Cutaneous involvement by listeriosis | Cutaneous listeriosis | Cutaneous involvement in listeriosis | Cutaneous involvement in listeriosis (disorder),SNOMEDCT ID:402128003 | SNOMEDCT ID:238420008,Cutaneous listeriosis,ICD11 ID:1C1A.0,,,,,,,ICD10 ID:A32.0, +BMGC_DS06430,BMG_DS020819,Actinic prurigo,UMLS ID:C0406217,Hydroa aestivale | Hydroa vacciniforme | Summer prurigo of Hutchinson | Hydroa estivale | Actinic prurigo | Hutchinson's summer prurigo | Bazin's hydroa vacciniforme | Hydroa estivale (disorder) | Actinic prurigo | Actinic prurigo (disorder) | Summer prurigo of Hutchinson | Hutchinson's summer prurigo | Familial actinic prurigo | Hydroa estivale | Hydroa aestivale | Hereditary polymorphous light eruption of American Indians | Familial polymorphous light eruption of American Indians,SNOMEDCT ID:27687007 | SNOMEDCT ID:201015007,,,actinic prurigo,MONDO:0008273,,,,,,OMIM ID:174770 +BMGC_DS06431,BMG_DS020869,Chronic small plaque psoriasis,UMLS ID:C0406317,Chronic small plaque psoriasis (disorder) | Chronic small plaque psoriasis,SNOMEDCT ID:402308005,,,,,,,,,, +BMGC_DS06432,BMG_DS020878,Psoriasis of scalp,UMLS ID:C0406326,Scalp psoriasis | Psoriasis of scalp (disorder) | Psoriasis of scalp,SNOMEDCT ID:238608008,,,,,,,,,, +BMGC_DS06433,BMG_DS020924,Erosive oral lichen planus,UMLS ID:C0406378,Erosive oral lichen planus | Erosive oral lichen planus (disorder),SNOMEDCT ID:238662007,,,,,,,,,, +BMGC_DS06434,BMG_DS020967,,UMLS ID:C0406443,,,,,nonsyndromic congenital nail disorder 1,MONDO:0008060,,,,,,OMIM ID:161050 +BMGC_DS06435,BMG_DS020985,Loose Anagen Hair Syndrome,UMLS ID:C0406468,,,,,loose anagen syndrome,MONDO:0010908,Loose Anagen Hair Syndrome,MeSH ID:D058247,loose anagen hair syndrome,DOID:0111702,,OMIM ID:600628 +BMGC_DS06436,BMG_DS021001,Ocular Rosacea,UMLS ID:C0406486,,,,,,,Rosacea,MeSH ID:D012393,,,, +BMGC_DS06437,BMG_DS021013,Hereditary benign telangiectasia (disorder),UMLS ID:C0406502,Hereditary benign telangiectasia | Hereditary benign telangiectasia (disorder),SNOMEDCT ID:238764001,,,generalized essential telangiectasia,MONDO:0008534,,,,,,OMIM ID:187260 +BMGC_DS06438,BMG_DS021034,Neuropathic ulcer of foot due to diabetes mellitus,UMLS ID:C0406526,Neuropathic diabetic ulcer - foot | Neuropathic ulcer of foot due to diabetes mellitus (disorder) | Neuropathic ulcer of foot due to diabetes mellitus,SNOMEDCT ID:201251005,,,,,,,,,, +BMGC_DS06439,BMG_DS021044,Morbilliform Drug Reaction,UMLS ID:C0406537,,,,,,,Drug Eruptions,MeSH ID:D003875,,,, +BMGC_DS06440,BMG_DS021059,Poikiloderma of Kindler,UMLS ID:C0406557,Kindler's syndrome | Kindler syndrome | Kindler epidermolysis bullosa (disorder) | Kindler epidermolysis bullosa | Poikiloderma of Kindler | Congenital bullous poikiloderma,SNOMEDCT ID:238836000,,,Kindler syndrome,MONDO:0008260,,MeSH ID:C536321,Kindler syndrome,DOID:0060472,,OMIM ID:173650 +BMGC_DS06441,BMG_DS021061,Pseudoatrophoderma Colli,UMLS ID:C0406561,,,,,Pseudoatrophoderma colli,MONDO:0008325,,MeSH ID:C562909,,,,OMIM ID:177350 +BMGC_DS06442,BMG_DS021074,Lethal tight skin contracture syndrome (disorder),UMLS ID:C0406585,Lethal tight skin contracture syndrome (disorder) | Lethal tight skin contracture syndrome | Infantile restrictive dermopathy,SNOMEDCT ID:400128006,,,restrictive dermopathy,MONDO:0031213,,,restrictive dermopathy,DOID:0060762,, +BMGC_DS06443,BMG_DS021075,Wiedemann-Rautenstrauch syndrome,UMLS ID:C0406586,Neonatal pseudo-hydrocephalic progeroid syndrome | Wiedemann-Rautenstrauch syndrome | Neonatal pseudo-hydrocephalic progeroid syndrome (disorder),SNOMEDCT ID:238874008,,,Wiedemann-Rautenstrauch syndrome,MONDO:0009910,,MeSH ID:C536423,,,,OMIM ID:264090 +BMGC_DS06444,BMG_DS021076,Wrinkly skin syndrome,UMLS ID:C0406587,WSS - Wrinkly skin syndrome | Wrinkly skin syndrome | Wrinkly skin syndrome (disorder),SNOMEDCT ID:238875009,,,wrinkly skin syndrome,MONDO:0010208,,MeSH ID:C536750,wrinkly skin syndrome,DOID:0112171,,OMIM ID:278250 +BMGC_DS06445,BMG_DS021091,,UMLS ID:C0406608,,,,,pelvic lipomatosis,MONDO:0006593,,,pelvic lipomatosis,DOID:3927,, +BMGC_DS06446,BMG_DS021093,,UMLS ID:C0406612,,,,,encephalocraniocutaneous lipomatosis,MONDO:0013074,,,,,,OMIM ID:613001 +BMGC_DS06447,BMG_DS021114,Erythema multiforme-like lupus erythematosus,UMLS ID:C0406637,Erythema multiforme-like lupus erythematosus (disorder) | Erythema multiforme-like lupus erythematosus | Rowell syndrome,SNOMEDCT ID:403491004,,,Rowell syndrome,MONDO:0041186,,,,,, +BMGC_DS06448,BMG_DS021145,Bullous pyoderma gangrenosum,UMLS ID:C0406687,Bullous pyoderma | Bullous pyoderma gangrenosum | Bullous pyoderma gangrenosum (disorder),SNOMEDCT ID:238985006,,,bullous pyoderma gangrenosum,MONDO:0035237,,,,,, +BMGC_DS06449,BMG_DS021156,,UMLS ID:C0406702,,,,,autosomal recessive hypohidrotic ectodermal dysplasia,MONDO:0016619,,,,,, +BMGC_DS06450,BMG_DS021157,Rudiger syndrome 1,UMLS ID:C0406704,,,,,EEC syndrome,MONDO:0010004,,MeSH ID:C536189,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | EEC syndrome",DOID:0060784;DOID:0060782;DOID:0060783,,OMIM ID:268650 +BMGC_DS06451,BMG_DS021158,Basan syndrome,UMLS ID:C0406707,Basan syndrome | Basan syndrome (disorder),SNOMEDCT ID:239011004,,,absence of fingerprints-congenital milia syndrome,MONDO:0007507,,MeSH ID:C537659,BASAN syndrome,DOID:0080725,,OMIM ID:129200 +BMGC_DS06452,BMG_DS021159,Hay-Wells syndrome,UMLS ID:C0406709,"Hay-Wells syndrome of ectodermal dysplasia | Ankyloblepharon-ectodermal dysplasia-clefting syndrome | AEC syndrome | Hay-Wells syndrome of ectodermal dysplasia (disorder) | Hay-Wells syndrome | AEC - Ankyloblepharon, ectodermal defects, cleft lip and palate | Ankyloblepharon, ectodermal defects, cleft lip and palate | Hay Wells syndrome of ectodermal dysplasia",SNOMEDCT ID:55821006,,,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,MONDO:0007124,,MeSH ID:C535847,,,,OMIM ID:106260 +BMGC_DS06453,BMG_DS021161,Fried's tooth and nail syndrome,UMLS ID:C0406715,Fried's tooth and nail syndrome | Fried's tooth and nail syndrome (disorder) | Fried tooth and nail syndrome,SNOMEDCT ID:239020008,,,,,,,ectodermal dysplasia 8,DOID:0111661,, +BMGC_DS06454,BMG_DS021162,,UMLS ID:C0406718,,,,,wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome,MONDO:0010207,,,,,,OMIM ID:278200 +BMGC_DS06455,BMG_DS021164,"Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy",UMLS ID:C0406723,,,,,GAPO syndrome,MONDO:0009263,,MeSH ID:C535642,,,,OMIM ID:230740 +BMGC_DS06456,BMG_DS021165,Trichodental syndrome,UMLS ID:C0406724,Trichodental syndrome | Trichodental syndrome (disorder),SNOMEDCT ID:277810000,,,trichodental syndrome,MONDO:0011083,,MeSH ID:C536551,,,,OMIM ID:601453 +BMGC_DS06457,BMG_DS021166,Orofaciodigital syndrome 3,UMLS ID:C0406726,,,,,orofaciodigital syndrome III,MONDO:0009793,,MeSH ID:C557817,orofaciodigital syndrome III,DOID:0060373,,OMIM ID:258850 +BMGC_DS06458,BMG_DS021167,Orofaciodigital syndrome 4,UMLS ID:C0406727,,,,,orofaciodigital syndrome IV,MONDO:0009794,,MeSH ID:C537133,orofaciodigital syndrome IV,DOID:0060374,,OMIM ID:258860 +BMGC_DS06459,BMG_DS021170,Curly hair-ankyloblepharon-nail dysplasia syndrome,UMLS ID:C0406733,,,,,CHAND syndrome,MONDO:0008959,,MeSH ID:C538074,,,,OMIM ID:214350 +BMGC_DS06460,BMG_DS021172,Hypoplastic enamel-onycholysis-hypohidrosis syndrome,UMLS ID:C0406735,Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) | Hypoplastic enamel-onycholysis-hypohidrosis syndrome | Witkop-Brearley-Gentry syndrome,SNOMEDCT ID:400036004,,,tooth and nail syndrome,MONDO:0008582,,,tooth and nail syndrome,DOID:6678,,OMIM ID:189500 +BMGC_DS06461,BMG_DS021176,Kohlschutter Tonz syndrome,UMLS ID:C0406740,,,,,amelocerebrohypohidrotic syndrome,MONDO:0009185,,MeSH ID:C537213,Kohlschutter-Tonz syndrome,DOID:0111668,,OMIM ID:226750 +BMGC_DS06462,BMG_DS021183,Keratolytic winter erythema,UMLS ID:C0406756,Oudtshoorn disease | Winter erythrokeratolysis | Erythrokeratolysis hiemalis | Keratolytic winter erythema | Keratolytic winter erythema (disorder),SNOMEDCT ID:239064000,,,keratolytic winter erythema,MONDO:0007854,,MeSH ID:C536155,,,,OMIM ID:148370 +BMGC_DS06463,BMG_DS021184,,UMLS ID:C0406757,,,,,hereditary palmoplantar keratoderma,MONDO:0019272,,,,,, +BMGC_DS06464,BMG_DS021185,Congenital palmoplantar and perioral keratoderma of Olmsted,UMLS ID:C0406761,Congenital palmoplantar and perioral keratoderma of Olmsted | Congenital palmoplantar and perioral keratoderma of Olmsted (disorder) | Olmsted syndrome | Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques,SNOMEDCT ID:239072003,,,Olmsted syndrome,MONDO:0031421,,,,,, +BMGC_DS06465,BMG_DS021189,,UMLS ID:C0406767,,,,,palmoplantar keratoderma-sclerodactyly syndrome,MONDO:0008416,,,,,,OMIM ID:181600 +BMGC_DS06466,BMG_DS021193,,UMLS ID:C0406775,,,,,dyschromatosis symmetrica hereditaria,MONDO:0007483,,,dyschromatosis symmetrica hereditaria,DOID:0060257,,OMIM ID:127400 +BMGC_DS06467,BMG_DS021195,,UMLS ID:C0406778,,,,,dermatopathia pigmentosa reticularis,MONDO:0007445,,,dermatopathia pigmentosa reticularis,DOID:0111342,,OMIM ID:125595 +BMGC_DS06468,BMG_DS021210,,UMLS ID:C0406803,,,,,syringocystadenoma papilliferum,MONDO:0019392,,,syringocystadenoma papilliferum,DOID:5445,, +BMGC_DS06469,BMG_DS021213,Carney Complex,UMLS ID:C0406810,,,,,Carney complex,MONDO:0015285,Carney Complex,MeSH ID:D056733,Carney complex,DOID:0050471,, +BMGC_DS06470,BMG_DS021214,Reticulate acropigmentation of Kitamura,UMLS ID:C0406811,Kitamura's reticulate acropigmentation | Reticulate acropigmentation of Kitamura | Reticulate acropigmentation of Kitamura (disorder),SNOMEDCT ID:239133004,,,reticulate acropigmentation of Kitamura,MONDO:0014234,,,reticulate acropigmentation of Kitamura | Dowling-Degos disease,DOID:0060258;DOID:0060256,,OMIM ID:615537 +BMGC_DS06471,BMG_DS021215,,UMLS ID:C0406817,,,,,familial cutaneous collagenoma,MONDO:0007271,,,,,,OMIM ID:115250 +BMGC_DS06472,BMG_DS021216,,UMLS ID:C0406819,,,,,congenital smooth muscle hamartoma,MONDO:0016986,,,,,, +BMGC_DS06473,BMG_DS021275,,UMLS ID:C0409495,,,,,Protrusio acetabuli,MONDO:0008320,,,,,,OMIM ID:177050 +BMGC_DS06474,BMG_DS021401,,UMLS ID:C0409667,,,,,juvenile chronic polyarthritis,MONDO:0024281,,,juvenile rheumatoid arthritis,DOID:676,, +BMGC_DS06475,BMG_DS021407,Juvenile ankylosing spondylitis,UMLS ID:C0409675,Juvenile ankylosing spondylitis | Juvenile ankylosing spondylitis (disorder) | Juvenile ankylosing spondylitis | AS - Juvenile ankylosing spondylitis | Juvenile ankylosing spondylitis (disorder),SNOMEDCT ID:201802002 | SNOMEDCT ID:239805001,"Inflammation of spine, unspecified",ICD11 ID:FA9Z,juvenile ankylosing spondylitis,MONDO:0020655,,,juvenile ankylosing spondylitis,DOID:0040092,ICD10 ID:M08.1, +BMGC_DS06476,BMG_DS021499,"Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",UMLS ID:C0409818,,,,,CINCA syndrome,MONDO:0011776,Cryopyrin-Associated Periodic Syndromes,MeSH ID:D056587,,,,OMIM ID:607115 +BMGC_DS06477,BMG_DS021602,"Osteoarthritis, Knee",UMLS ID:C0409959,,,,,"osteoarthritis, knee",MONDO:0005416,"Osteoarthritis, Knee",MeSH ID:D020370,,,, +BMGC_DS06478,BMG_DS021614,,UMLS ID:C0409974,,,,,lupus erythematosus,MONDO:0004670,,,lupus erythematosus,DOID:8857,, +BMGC_DS06479,BMG_DS021639,Nodular fasciitis,UMLS ID:C0410005,"Nodular fasciitis (morphologic abnormality) | Nodular fasciitis | (Muscle/ligament disord NOS) or (lig contraction) or (musc contracture) or (nodular fasciitis) or (granuloma: [FB][talc]) or (hypotonia unsp) or (non-traum musc: [tear][rupt]) or (rhabdomyolysis) | Non-traumatic muscle tear | Non-traumatic muscle rupture | Muscle contracture | Nontraumatic muscle rupture | Foreign body granuloma | Rhabdomyolysis | Hypotonia, unspecified | Nodular fasciitis | Fasciitis - nodular | Contraction - ligament | Muscle/ligament disorder NOS | Talc granuloma | Granuloma -foreign body | (Muscle/ligament disord NOS) or (lig contraction) or (musc contracture) or (nodular fasciitis) or (granuloma: [FB][talc]) or (hypotonia unsp) or (non-traum musc: [tear][rupt]) or (rhabdomyolysis) (disorder) | (Muscle/ligament disord NOS) or (lig contraction) or (musc contracture) or (nodular fasciitis) or (granuloma: [FB][talc]) or (hypotonia unsp) or (non-traum musc: [tear][rupt]) or (rhabdomyolysis) | Muscle contracture | Rhabdomyolysis | Non-traumatic muscle tear | Granuloma -foreign body | Fasciitis - nodular | Non-traumatic muscle rupture | Contraction - ligament | Muscle/ligament disorder NOS | Nontraumatic muscle rupture | Foreign body granuloma | Nodular fasciitis | Hypotonia, unspecified | Talc granuloma | (Muscle/ligament disord NOS) or (lig contraction) or (musc contracture) or (nodular fasciitis) or (granuloma: [FB][talc]) or (hypotonia unsp) or (non-traum musc: [tear][rupt]) or (rhabdomyolysis) (disorder) | Nodular fasciitis (disorder) | Nodular fasciitis | Infiltrative fasciitis | Nodular fasciitis | Pseudosarcomatous fibromatosis | Pseudosarcomatous fasciitis | Proliferative fasciitis | Infiltrative fasciitis | Nodular fasciitis (disorder)",SNOMEDCT ID:703616008 | SNOMEDCT ID:268106003 | SNOMEDCT ID:156729009 | SNOMEDCT ID:400138001 | SNOMEDCT ID:35548007,Fasciitis and fibromatosis,ICD11 ID:FB51.2,nodular fasciitis,MONDO:0004187,,,pseudosarcomatous fibromatosis,DOID:7327,ICD10 ID:M72.4, +BMGC_DS06480,BMG_DS021661,,UMLS ID:C0410060,,,,,trigger thumb,MONDO:0008600,,,,,,OMIM ID:190410 +BMGC_DS06481,BMG_DS021665,"Dupuytren's disease of finger, with contracture",UMLS ID:C0410065,"Dupuytren's disease of finger(s), with contracture | Dupuytren's disease of finger, with contracture | Dupuytren's disease of finger, with contracture (disorder) | Dupuytren disease of finger, with contracture",SNOMEDCT ID:203051006,,,,,,,,,, +BMGC_DS06482,BMG_DS021732,Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder),UMLS ID:C0410173,Severe autosomal recessive muscular dystrophy of childhood - North African type | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder),SNOMEDCT ID:240056002,,,autosomal recessive limb-girdle muscular dystrophy type 2C,MONDO:0009677,,,,,,OMIM ID:253700 +BMGC_DS06483,BMG_DS021733,Fukuyama Type Congenital Muscular Dystrophy,UMLS ID:C0410174,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",MONDO:0009678,Walker-Warburg Syndrome,MeSH ID:D058494,Walker-Warburg syndrome,DOID:0050560,,OMIM ID:253800 +BMGC_DS06484,BMG_DS021738,Ullrich congenital muscular dystrophy 1,UMLS ID:C0410179,,,,,Ullrich congenital muscular dystrophy 1A,MONDO:0009681,,MeSH ID:C537521,,,,OMIM ID:254090 +BMGC_DS06485,BMG_DS021739,Eichsfeld type congenital muscular dystrophy,UMLS ID:C0410180,Eichsfeld type congenital muscular dystrophy | Eichsfeld type congenital muscular dystrophy (disorder) | Rigid spine syndrome,SNOMEDCT ID:240063002,,,rigid spine muscular dystrophy 1,MONDO:0011271,,,,,,OMIM ID:602771 +BMGC_DS06486,BMG_DS021746,"Muscular Dystrophy, Emery-Dreifuss",UMLS ID:C0410189,,,,,Emery-Dreifuss muscular dystrophy,MONDO:0016830,"Muscular Dystrophy, Emery-Dreifuss",MeSH ID:D020389,Emery-Dreifuss muscular dystrophy,DOID:11726,, +BMGC_DS06487,BMG_DS021747,,UMLS ID:C0410190,,,,,"Emery-Dreifuss muscular dystrophy 2, autosomal dominant",MONDO:0021569,,,,,,OMIM ID:159001 | OMIM ID:181350 +BMGC_DS06488,BMG_DS021749,"Muscular Dystrophy, Scapulohumeral",UMLS ID:C0410192,,,,,"muscular dystrophy, scapulohumeral",MONDO:0010884,,MeSH ID:C562932,,,,OMIM ID:600416 +BMGC_DS06489,BMG_DS021759,,UMLS ID:C0410203,,,,,X-linked myotubular myopathy,MONDO:0010683,,,centronuclear myopathy X-linked,DOID:0111225,,OMIM ID:310400 +BMGC_DS06490,BMG_DS021760,"Myopathy, Centronuclear, Autosomal Recessive",UMLS ID:C0410204,,,,,"myopathy, centronuclear, 2",MONDO:0009709,,MeSH ID:C562934,centronuclear myopathy 2,DOID:0111220,,OMIM ID:255200 +BMGC_DS06491,BMG_DS021763,Tubular Aggregate Myopathy,UMLS ID:C0410207,,,,,tubular aggregate myopathy,MONDO:0008051,"Myopathies, Structural, Congenital",MeSH ID:D020914,,,, +BMGC_DS06492,BMG_DS021768,Myopathy with Abnormal Lipid Metabolism,UMLS ID:C0410214,,,,,,,,MeSH ID:C562935,,,, +BMGC_DS06493,BMG_DS021777,Congenital Myotonic Dystrophy,UMLS ID:C0410226,,,,,congenital myotonic dystrophy,MONDO:0023595,Myotonic Dystrophy,MeSH ID:D009223,,,, +BMGC_DS06494,BMG_DS021879,Chronic multifocal osteomyelitis,UMLS ID:C0410422,Chronic multifocal osteomyelitis | CRMO - Chronic multifocal osteomyelitis | Chronic multifocal osteomyelitis (disorder) | Chronic multifocal osteomyelitis | Chronic multifocal osteomyelitis (disorder),SNOMEDCT ID:240151005 | SNOMEDCT ID:203203009,"Osteomyelitis or osteitis, unspecified",ICD11 ID:FB84.Z,chronic recurrent multifocal osteomyelitis,MONDO:0009813,,MeSH ID:C535456,chronic recurrent multifocal osteomyelitis,DOID:0060645,ICD10 ID:M86.3, +BMGC_DS06495,BMG_DS021943,Skeletal dysplasia,UMLS ID:C0410528,Skeletal dysplasia | Congenital skeletal dysplasia (disorder) | Congenital skeletal dysplasia | Osteochondrodysplasia | Osteodysplasia,SNOMEDCT ID:105986008,,,skeletal dysplasia,MONDO:0018230,,,,,,OMIM ID:MTHU042509 +BMGC_DS06496,BMG_DS021944,Hypochondroplasia (disorder),UMLS ID:C0410529,Hypochondroplasia | Hypochondrodysplasia | Hypochondroplasia (disorder),SNOMEDCT ID:205468002,,,hypochondroplasia,MONDO:0007793,,,hypochondroplasia,DOID:0080041,,OMIM ID:146000 +BMGC_DS06497,BMG_DS021945,Metachondromatosis,UMLS ID:C0410530,Metachondromatosis | Metachondromatosis (disorder),SNOMEDCT ID:205481009,,,metachondromatosis,MONDO:0007979,,MeSH ID:C562938,metachondromatosis,DOID:0111512,,OMIM ID:156250 +BMGC_DS06498,BMG_DS021949,,UMLS ID:C0410538,,,,,pseudoachondroplasia,MONDO:0008322,,,,,,OMIM ID:177170 +BMGC_DS06499,BMG_DS021950,Craniodiaphyseal dysplasia,UMLS ID:C0410539,Craniodiaphyseal dysplasia | CDD - Craniodiaphyseal dysplasia | Craniodiaphyseal dysplasia (disorder),SNOMEDCT ID:205506004,,,craniodiaphyseal dysplasia,MONDO:0009031,,,,,,OMIM ID:218300 +BMGC_DS06500,BMG_DS021974,Synovial Hypertrophy,UMLS ID:C0410574,,,,,,,Synovitis,MeSH ID:D013585,,,, +BMGC_DS06501,BMG_DS021994,,UMLS ID:C0410606,,,,,cervical disk degenerative disorder,MONDO:0044343,,,degenerative disc disease,DOID:90,, +BMGC_DS06502,BMG_DS022238,"Seizures, Somatosensory",UMLS ID:C0422850,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS06503,BMG_DS022244,Lazy Eye,UMLS ID:C0422955,,,,,,,Amblyopia,MeSH ID:D000550,,,, +BMGC_DS06504,BMG_DS022254,Superior Oblique Myokymia,UMLS ID:C0423092,,,,,,,Trochlear Nerve Diseases,MeSH ID:D020432,trochlear nerve disease,DOID:13864,, +BMGC_DS06505,BMG_DS022255,,UMLS ID:C0423113,,,,,telecanthus,MONDO:0008537,,,,,,OMIM ID:187350 +BMGC_DS06506,BMG_DS022261,,UMLS ID:C0423224,,,,,enophthalmos,MONDO:0001210,,,,,, +BMGC_DS06507,BMG_DS022264,,UMLS ID:C0423318,,,,,heterochromia iridis,MONDO:0007722,,,,,,OMIM ID:142500 +BMGC_DS06508,BMG_DS022271,,UMLS ID:C0423401,,,,,retinal arterial tortuosity,MONDO:0008373,,,,,,OMIM ID:180000 +BMGC_DS06509,BMG_DS022274,"Low Back Pain, Mechanical",UMLS ID:C0423682,,,,,,,Low Back Pain,MeSH ID:D017116,,,, +BMGC_DS06510,BMG_DS022280,"Neuralgia, Perineal",UMLS ID:C0423711,,,,,,,Neuralgia,MeSH ID:D009437,,,, +BMGC_DS06511,BMG_DS022281,"Neuralgia, Iliohypogastric Nerve",UMLS ID:C0423712,,,,,,,Neuralgia,MeSH ID:D009437,,,, +BMGC_DS06512,BMG_DS022284,Scurfiness of scalp,UMLS ID:C0423775,Pityriasis simplex | Pityriasis streptogenes | Scurfiness of scalp | Dandruff | Scurf | Pityriasis capitis | Pityriasis sicca | Seborrhea capitis | Seborrheic dermatitis of scalp | Seborrheic eczema of scalp | Seborrhea sicca | Seborrhoea capitis | Seborrhoea sicca | Seborrhoeic eczema of scalp | Seborrhoeic dermatitis of scalp | Scurfiness of scalp (disorder) | Scurfiness of scalp | Scurfiness of scalp (finding),SNOMEDCT ID:48596006 | SNOMEDCT ID:247448009,,,pityriasis simplex,MONDO:0024343,,,,,, +BMGC_DS06513,BMG_DS022307,Spastic Quadriplegia,UMLS ID:C0426970,,,,,spastic quadriplegic cerebral palsy,MONDO:0016215,Quadriplegia,MeSH ID:D011782,,,, +BMGC_DS06514,BMG_DS022309,Facial Paresis,UMLS ID:C0427055,,,,,,,Facial Paralysis,MeSH ID:D005158,,,, +BMGC_DS06515,BMG_DS022321,Aortic valve calcification,UMLS ID:C0428791,Aortic valve calcification | Calcified aortic valve | Aortic valve calcification (disorder),SNOMEDCT ID:250978003,,,aortic valve calcification,MONDO:0005463,,,,,,OMIM ID:MTHU014585 +BMGC_DS06516,BMG_DS022328,Dilatation of pulmonary artery (disorder),UMLS ID:C0428851,Dilatation of pulmonary artery | Dilatation of pulmonary artery (disorder),SNOMEDCT ID:251047005,,,,,,,,,, +BMGC_DS06517,BMG_DS022329,,UMLS ID:C0428908,,,,,sinoatrial node disorder,MONDO:0000469,,,,,, +BMGC_DS06518,BMG_DS022331,Supraventricular arrhythmia,UMLS ID:C0428974,Supraventricular arrhythmia | Supraventricular arrhythmia (disorder),SNOMEDCT ID:72654001,,,,,,,,,, +BMGC_DS06519,BMG_DS022348,,UMLS ID:C0431108,,,,,anaplastic oligoastrocytoma,MONDO:0016703,,,,,, +BMGC_DS06520,BMG_DS022349,,UMLS ID:C0431109,,,,,choroid plexus carcinoma,MONDO:0016718,,,choroid plexus carcinoma,DOID:5648,, +BMGC_DS06521,BMG_DS022352,,UMLS ID:C0431118,,,,,choroid plexus meningioma,MONDO:0003053,,,choroid plexus meningioma,DOID:4584,, +BMGC_DS06522,BMG_DS022353,,UMLS ID:C0431119,,,,,lymphoplasmacyte-rich meningioma,MONDO:0003056,,,lymphoplasmacyte-rich meningioma,DOID:4591,, +BMGC_DS06523,BMG_DS022354,,UMLS ID:C0431121,,,,,clear cell meningioma,MONDO:0002918,,,clear cell meningioma,DOID:4210,, +BMGC_DS06524,BMG_DS022355,,UMLS ID:C0431124,,,,,cellular schwannoma,MONDO:0002548,,,cellular schwannoma,DOID:3196,, +BMGC_DS06525,BMG_DS022356,,UMLS ID:C0431128,,,,,papillary craniopharyngioma,MONDO:0002788,,,papillary craniopharyngioma,DOID:3847,, +BMGC_DS06526,BMG_DS022357,,UMLS ID:C0431129,,,,,adamantinous craniopharyngioma,MONDO:0002787,,,adamantinous craniopharyngioma,DOID:3846,, +BMGC_DS06527,BMG_DS022367,,UMLS ID:C0431349,,,,,aprosencephaly,MONDO:0035450,,,,,, +BMGC_DS06528,BMG_DS022371,,UMLS ID:C0431362,,,,,lobar holoprosencephaly,MONDO:0019756,,,,,, +BMGC_DS06529,BMG_DS022372,,UMLS ID:C0431363,,,,,alobar holoprosencephaly,MONDO:0019757,,,,,, +BMGC_DS06530,BMG_DS022375,Classical Lissencephaly,UMLS ID:C0431375,,,,,classic lissencephaly,MONDO:0015146,Classical Lissencephalies and Subcortical Band Heterotopias,MeSH ID:D054221,chromosome 17p13.1 deletion syndrome,DOID:0060402,, +BMGC_DS06531,BMG_DS022377,,UMLS ID:C0431380,,,,,cerebral cortical dysplasia,MONDO:0017094,,,,,, +BMGC_DS06532,BMG_DS022379,,UMLS ID:C0431384,,,,,colpocephaly,MONDO:0022236,,,,,, +BMGC_DS06533,BMG_DS022380,Hemimegalencephaly,UMLS ID:C0431391,Hemimegalencephaly | Hemimegalencephaly (disorder),SNOMEDCT ID:253170008,,,hemimegalencephaly,MONDO:0020492,Hemimegalencephaly,MeSH ID:D065705,,,,OMIM ID:MTHU037012 +BMGC_DS06534,BMG_DS022381,Familial aplasia of the vermis,UMLS ID:C0431399,Familial aplasia of the vermis | Familial aplasia of the vermis (disorder),SNOMEDCT ID:156895002 | SNOMEDCT ID:204053001 | SNOMEDCT ID:253175003,,,Joubert syndrome,MONDO:0018772,,,,,, +BMGC_DS06535,BMG_DS022383,Gillespie syndrome,UMLS ID:C0431401,"Gillespie syndrome | Gillespie syndrome (disorder) | Aniridia, cerebellar ataxia, intellectual disability syndrome",SNOMEDCT ID:253176002,,,aniridia-cerebellar ataxia-intellectual disability syndrome,MONDO:0008795,,MeSH ID:C536370,Gillespie syndrome,DOID:0111578,,OMIM ID:206700 +BMGC_DS06536,BMG_DS022384,Asymmetric crying face association,UMLS ID:C0431406,Asymmetric crying face association | Cardiofacial syndrome | Asymmetric crying face association (disorder) | Asymmetrical crying face syndrome | Asymmetric crying facies | Congenital unilateral hypoplasia of depressor anguli oris,SNOMEDCT ID:51409009,,,congenital unilateral hypoplasia of depressor anguli oris,MONDO:0007443,,,,,,OMIM ID:125520 +BMGC_DS06537,BMG_DS022386,Vein of Galen aneurysm,UMLS ID:C0431420,,,,,vein of Galen aneurysm,MONDO:0015196,,MeSH ID:C536535,,,, +BMGC_DS06538,BMG_DS022395,Mayer-Rokitansky-Kuster syndrome,UMLS ID:C0431648,Rokitansky sequence | Mayer-Rokitansky-Kuster syndrome | Rokitansky sequence (disorder) | Congenital absence of uterus and vagina,SNOMEDCT ID:8793008,,,Mayer-Rokitansky-Kuster-Hauser syndrome,MONDO:0017771,,,,,, +BMGC_DS06539,BMG_DS022397,,UMLS ID:C0431692,,,,,"renal hypoplasia, bilateral",MONDO:0019980,,,,,, +BMGC_DS06540,BMG_DS022398,Renal cysts and diabetes syndrome,UMLS ID:C0431693,"Renal cysts and diabetes syndrome (disorder) | Renal cysts and diabetes syndrome | Maturity-onset diabetes of the young, type 5 (disorder) | Maturity-onset diabetes of the young, type 5 | MODY5 - maturity-onset diabetes of the young type 5 | Renal cysts and diabetes syndrome | HNF1B-MODY - HNF1 homeobox B maturity-onset diabetes of the young type 5 | HNF1B (HNF1 homeobox B) monogenic diabetes mellitus | HNF1B monogenic diabetes mellitus",SNOMEDCT ID:446641003 | SNOMEDCT ID:609572000,,,renal cysts and diabetes syndrome,MONDO:0007669,,MeSH ID:C535520,,,,OMIM ID:137920 +BMGC_DS06541,BMG_DS022400,,UMLS ID:C0431697,,,,,"renal dysplasia, unilateral",MONDO:0019644,,,,,, +BMGC_DS06542,BMG_DS022401,,UMLS ID:C0431698,,,,,"renal dysplasia, bilateral",MONDO:0019645,,,,,, +BMGC_DS06543,BMG_DS022407,Multiple renal cysts,UMLS ID:C0431718,Multiple renal cysts | Multiple renal cysts (disorder),SNOMEDCT ID:253883006,,,,,,,,,,OMIM ID:MTHU015022 +BMGC_DS06544,BMG_DS022418,,UMLS ID:C0431886,,,,,"thumbs, congenital Clasped",MONDO:0010746,,,,,,OMIM ID:314100 +BMGC_DS06545,BMG_DS022420,,UMLS ID:C0431904,,,,,postaxial polydactyly of fingers,MONDO:0017426,,,,,, +BMGC_DS06546,BMG_DS022424,,UMLS ID:C0432028,,,,,split foot,MONDO:0017450,,,,,, +BMGC_DS06547,BMG_DS022429,,UMLS ID:C0432090,,,,,cleft hard palate,MONDO:0015092,,,,,, +BMGC_DS06548,BMG_DS022430,,UMLS ID:C0432098,,,,,cleft soft palate,MONDO:0007338,,,,,,OMIM ID:119570 +BMGC_DS06549,BMG_DS022434,,UMLS ID:C0432122,,,,,trigonocephaly 1,MONDO:0008603,,,,,,OMIM ID:190440 +BMGC_DS06550,BMG_DS022435,Kleeblattschaedel syndrome,UMLS ID:C0432126,,,,,isolated cloverleaf skull syndrome,MONDO:0007861,,MeSH ID:C536884,,,,OMIM ID:148800 +BMGC_DS06551,BMG_DS022436,,UMLS ID:C0432160,,,,,"cervical vertebrae, agenesis of",MONDO:0008957,,,,,,OMIM ID:214290 +BMGC_DS06552,BMG_DS022443,Schneckenbecken dysplasia,UMLS ID:C0432194,Schneckenbecken dysplasia | Schneckenbecken dysplasia (disorder),SNOMEDCT ID:254049009,,,schneckenbecken dysplasia,MONDO:0010013,,MeSH ID:C536637,schneckenbecken dysplasia,DOID:0050775,,OMIM ID:269250 +BMGC_DS06553,BMG_DS022444,,UMLS ID:C0432195,,,,,short rib dysplasia,MONDO:0019691,,,,,, +BMGC_DS06554,BMG_DS022445,"Short rib-polydactyly syndrome, Verma-Naumoff type",UMLS ID:C0432197,,,,,,,,MeSH ID:C537602,,,, +BMGC_DS06555,BMG_DS022446,"Short rib-polydactyly syndrome, Beemer type",UMLS ID:C0432198,,,,,Beemer-Langer syndrome,MONDO:0010024,,MeSH ID:C537599,Beemer-Langer syndrome,DOID:9249,,OMIM ID:269860 +BMGC_DS06556,BMG_DS022447,Boomerang dysplasia,UMLS ID:C0432201,Boomerang dysplasia | Boomerang dysplasia (disorder),SNOMEDCT ID:254054000,,,Boomerang dysplasia,MONDO:0007208,,MeSH ID:C536573,Boomerang dysplasia,DOID:0050680,,OMIM ID:112310 +BMGC_DS06557,BMG_DS022448,Pseudodiastrophic dysplasia,UMLS ID:C0432206,Pseudodiastrophic dysplasia | Pseudodiastrophic dysplasia (disorder),SNOMEDCT ID:254058002,,,pseudodiastrophic dysplasia,MONDO:0009914,,MeSH ID:C535826,,,,OMIM ID:264180 +BMGC_DS06558,BMG_DS022450,"Dyssegmental dysplasia, Rolland-Desbuquois type",UMLS ID:C0432209,,,,,"dyssegmental dysplasia, Rolland-Desbuquois type",MONDO:0009139,,MeSH ID:C537999,,,,OMIM ID:224400 +BMGC_DS06559,BMG_DS022451,Spondyloepimetaphyseal disorder,UMLS ID:C0432211,Spondyloepimetaphyseal disorder | Spondyloepimetaphyseal disorder (disorder) | Spondyloepimetaphyseal dysplasia,SNOMEDCT ID:254062008,,,spondyloepimetaphyseal dysplasia,MONDO:0100510,,,,,, +BMGC_DS06560,BMG_DS022452,"Spondyloepimetaphyseal Dysplasia, Irapa Type",UMLS ID:C0432213,,,,,"spondyloepimetaphyseal dysplasia, Irapa type",MONDO:0010076,,MeSH ID:C562958,,,,OMIM ID:271650 +BMGC_DS06561,BMG_DS022453,Namaqualand hip dysplasia,UMLS ID:C0432214,Namaqualand hip dysplasia | Namaqualand hip dysplasia (disorder),SNOMEDCT ID:254064009,,,mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,MONDO:0011496,,,,,,OMIM ID:604864 +BMGC_DS06562,BMG_DS022454,Progressive pseudorheumatoid dysplasia,UMLS ID:C0432215,Progressive pseudorheumatoid dysplasia | Progressive pseudorheumatoid dysplasia (disorder),SNOMEDCT ID:254065005,,,progressive pseudorheumatoid arthropathy of childhood,MONDO:0008827,,MeSH ID:C535387,,,,OMIM ID:208230 +BMGC_DS06563,BMG_DS022455,Wolcott-Rallison syndrome,UMLS ID:C0432217,"Wolcott-Rallison dysplasia | Wolcott-Rallison syndrome | Epiphyseal dysplasia, multiple, with early onset diabetes mellitus | Wolcott-Rallison dysplasia (disorder)",SNOMEDCT ID:254066006,,,Wolcott-Rallison syndrome,MONDO:0009192,,MeSH ID:C536739,Wolcott-Rallison syndrome,DOID:0090060,,OMIM ID:226980 +BMGC_DS06564,BMG_DS022457,Opsismodysplasia,UMLS ID:C0432219,Opsismodysplasia | Opsismodysplasia (disorder),SNOMEDCT ID:254068007,,,opsismodysplasia,MONDO:0009785,,MeSH ID:C537122,,,,OMIM ID:258480 +BMGC_DS06565,BMG_DS022458,"Spondylometaphyseal dysplasia, 'corner fracture' type",UMLS ID:C0432221,,,,,"spondylometaphyseal dysplasia, 'corner fracture' type",MONDO:0008479,,MeSH ID:C535793,spondylometaphyseal dysplasia corner fracture type,DOID:0112297,,OMIM ID:184255 +BMGC_DS06566,BMG_DS022459,Spondyloenchondrodysplasia,UMLS ID:C0432222,Spondyloenchondrodysplasia | Spondyloenchondrodysplasia (disorder),SNOMEDCT ID:254079002,,,,,,MeSH ID:C535782,,,, +BMGC_DS06567,BMG_DS022460,,UMLS ID:C0432224,,,,,"chondrodysplasia punctata, tibial-metacarpal type",MONDO:0007322,,,,,,OMIM ID:118651 +BMGC_DS06568,BMG_DS022461,Metaphyseal chondrodysplasia Spahr type,UMLS ID:C0432225,,,,,"metaphyseal chondrodysplasia, Spahr type",MONDO:0009597,,MeSH ID:C537353,,,,OMIM ID:250400 +BMGC_DS06569,BMG_DS022462,Metaphyseal anadysplasia,UMLS ID:C0432226,Metaphyseal anadysplasia | Metaphyseal anadysplasia (disorder),SNOMEDCT ID:254085009,,,metaphyseal anadysplasia,MONDO:0015177,,MeSH ID:C537351,,,,OMIM ID:309645 +BMGC_DS06570,BMG_DS022463,,UMLS ID:C0432227,,,,,autosomal dominant brachyolmia,MONDO:0007232,,,,,,OMIM ID:113500 +BMGC_DS06571,BMG_DS022464,Brachyolmia,UMLS ID:C0432228,Brachyolmia | Brachyolmia (disorder),SNOMEDCT ID:254088006,,,brachyolmia,MONDO:0015262,,MeSH ID:C537098,brachyolmia,DOID:0050690,, +BMGC_DS06572,BMG_DS022466,,UMLS ID:C0432230,,,,,Langer mesomelic dysplasia,MONDO:0009588,,,,,,OMIM ID:249700 +BMGC_DS06573,BMG_DS022467,Nievergelt syndrome,UMLS ID:C0432231,Nievergelt's syndrome | Nievergelt-Erb syndrome | Mesomelic dysplasia - Nievergelt type | Nievergelt's syndrome (disorder) | Nievergelt syndrome,SNOMEDCT ID:33979003,,,"mesomelic dwarfism, Nievergelt type",MONDO:0008098,,MeSH ID:C536120,,,,OMIM ID:163400 +BMGC_DS06574,BMG_DS022468,Trichorhinophalangeal dysplasia type I,UMLS ID:C0432233,Trichorhinophalangeal dysplasia type I | Trichorhinophalangeal dysplasia type I (disorder) | Trichorhinophalangeal dysplasia type I | Trichorhinophalangeal syndrome I | TRPS I - Trichorhinophalangeal syndrome I | Trichorhinophalangeal dysplasia type I (disorder),SNOMEDCT ID:239016009 | SNOMEDCT ID:254091006,,,trichorhinophalangeal syndrome type I,MONDO:0008596,,,trichorhinophalangeal syndrome type I,DOID:14743,,OMIM ID:190350 +BMGC_DS06575,BMG_DS022469,CRANIOECTODERMAL DYSPLASIA 1,UMLS ID:C0432235,,,,,cranioectodermal dysplasia 1,MONDO:0021093,,,cranioectodermal dysplasia 1,DOID:0080803,,OMIM ID:606045 | OMIM ID:218330 +BMGC_DS06576,BMG_DS022470,,UMLS ID:C0432238,,,,,bent bone dysplasia,MONDO:0019698,,,,,, +BMGC_DS06577,BMG_DS022471,Kyphomelic dysplasia,UMLS ID:C0432239,Kyphomelic dysplasia | Kyphomelic dysplasia (disorder),SNOMEDCT ID:254096001,,,kyphomelic dysplasia,MONDO:0008881,,MeSH ID:C538128,,,,OMIM ID:211350 +BMGC_DS06578,BMG_DS022472,Desbuquois syndrome,UMLS ID:C0432242,Desbuquois syndrome | Desbuquois syndrome (disorder) | Desbuquois dysplasia,SNOMEDCT ID:254099008,,,Desbuquois dysplasia,MONDO:0015426,,MeSH ID:C535943,Desbuquois dysplasia,DOID:0060462,, +BMGC_DS06579,BMG_DS022473,Spondyloepimetaphyseal Dysplasia With Joint Laxity,UMLS ID:C0432243,,,,,spondyloepimetaphyseal dysplasia with joint laxity,MONDO:0019675,,MeSH ID:C562968,spondyloepimetaphyseal dysplasia with joint laxity,DOID:0112197,, +BMGC_DS06580,BMG_DS022475,"Microcephalic Osteodysplastic Primordial Dwarfism, Type II",UMLS ID:C0432246,,,,,microcephalic osteodysplastic primordial dwarfism type II,MONDO:0008872,,MeSH ID:C565898,microcephalic osteodysplastic primordial dwarfism type II,DOID:0060609,,OMIM ID:210720 +BMGC_DS06581,BMG_DS022476,Osteoporosis with pseudoglioma,UMLS ID:C0432252,Osteoporosis with pseudoglioma | Osteoporosis with pseudoglioma (disorder),SNOMEDCT ID:254112001,,,osteoporosis-pseudoglioma syndrome,MONDO:0009820,,,osteoporosis-pseudoglioma syndrome,DOID:0060849,,OMIM ID:259770 +BMGC_DS06582,BMG_DS022477,Bruck syndrome,UMLS ID:C0432253,Bruck syndrome | Bruck syndrome (disorder),SNOMEDCT ID:254113006,,,Bruck syndrome,MONDO:0017195,,,,,, +BMGC_DS06583,BMG_DS022478,Singleton Merten syndrome,UMLS ID:C0432254,,,,,Singleton-Merten dysplasia,MONDO:0008429,,MeSH ID:C537343,,,, +BMGC_DS06584,BMG_DS022479,Geroderma osteodysplastica,UMLS ID:C0432255,Geroderma osteodysplastica | Osteodysplastic geroderma | GO - Geroderma osteodysplastica | Geroderma osteodysplastica (disorder),SNOMEDCT ID:254116003,,,geroderma osteodysplastica,MONDO:0009271,,MeSH ID:C537799,geroderma osteodysplasticum,DOID:0111266,,OMIM ID:231070 +BMGC_DS06585,BMG_DS022483,Osteopetrosis - intermediate type,UMLS ID:C0432261,Osteopetrosis - intermediate type | Osteopetrosis - intermediate type (disorder),SNOMEDCT ID:254121000,,,,,,,,,, +BMGC_DS06586,BMG_DS022484,Dysosteosclerosis,UMLS ID:C0432262,Dysosteosclerosis | Dysosteosclerosis (disorder),SNOMEDCT ID:254123002,,,dysosteosclerosis,MONDO:0009138,,MeSH ID:C562973,,,,OMIM ID:224300 | OMIM ID:MTHU064939 +BMGC_DS06587,BMG_DS022486,Axial osteosclerosis,UMLS ID:C0432264,Axial osteosclerosis | Axial osteosclerosis (disorder) | Osteomesopycnosis,SNOMEDCT ID:254125009,,,osteomesopyknosis,MONDO:0008155,,MeSH ID:C537792,,,,OMIM ID:166450 +BMGC_DS06588,BMG_DS022487,IBIDS Syndrome,UMLS ID:C0432267,,,,,,,Trichothiodystrophy Syndromes,MeSH ID:D054463,photosensitive trichothiodystrophy | nonphotosensitive trichothiodystrophy 5,DOID:0111868;DOID:2960,, +BMGC_DS06589,BMG_DS022488,Osteopathia striata cranial sclerosis,UMLS ID:C0432268,,,,,osteopathia striata with cranial sclerosis,MONDO:0010310,,MeSH ID:C536053,osteopathia striata with cranial sclerosis,DOID:0060886,,OMIM ID:300373 +BMGC_DS06590,BMG_DS022489,,UMLS ID:C0432269,,,,,Lenz-Majewski hyperostotic dwarfism,MONDO:0007892,,,Lenz-Majewski hyperostotic dwarfism,DOID:0111507,,OMIM ID:151050 +BMGC_DS06591,BMG_DS022491,Van Buchem disease,UMLS ID:C0432272,Hyperphosphatasemia tarda | Hyperostosis corticalis generalisata | Leontiasis ossea generalisata | Hyperphosphatasia tarda | van Buchem's syndrome | Van Buchem disease | Hyperphosphatasaemia tarda | Hyperphosphatasemia tarda (disorder),SNOMEDCT ID:59763006,,,hyperostosis corticalis generalisata,MONDO:0009395,,,,,,OMIM ID:239100 +BMGC_DS06592,BMG_DS022492,Worth disease,UMLS ID:C0432273,Autosomal dominant osteosclerosis | Worth disease | Worth disease (disorder),SNOMEDCT ID:254131007,,,"autosomal dominant osteosclerosis, Worth type",MONDO:0007764,,,Worth syndrome,DOID:0080037,,OMIM ID:144750 | OMIM ID:607636 +BMGC_DS06593,BMG_DS022495,Dysplasia epiphysealis hemimelica,UMLS ID:C0432282,Dysplasia epiphysealis hemimelica | Dysplasia epiphysealis hemimelica (disorder) | Dysplasia epiphysealis hemimelica | Dysplasia epiphysealis hemimelica (disorder) | Trevor disease | Trevor's disease,SNOMEDCT ID:240187003 | SNOMEDCT ID:205480005,,,dysplasia epiphysealis hemimelica,MONDO:0007489,,MeSH ID:C537997,,,,OMIM ID:127800 +BMGC_DS06594,BMG_DS022496,,UMLS ID:C0432283,,,,,osteoglophonic dwarfism,MONDO:0008150,,,osteoglophonic dysplasia,DOID:0111532,,OMIM ID:166250 +BMGC_DS06595,BMG_DS022497,,UMLS ID:C0432284,,,,,infantile myofibromatosis,MONDO:0016824,,,,,, +BMGC_DS06596,BMG_DS022499,Dermochondrocorneal dystrophy of François,UMLS ID:C0432288,,,,,dermochondrocorneal dystrophy,MONDO:0009094,,MeSH ID:C535375,,,,OMIM ID:221800 +BMGC_DS06597,BMG_DS022500,Winchester syndrome (disorder),UMLS ID:C0432289,Winchester syndrome | Winchester syndrome (disorder),SNOMEDCT ID:254151006,,,Winchester syndrome,MONDO:0010201,,,,,,OMIM ID:277950 +BMGC_DS06598,BMG_DS022501,Mandibuloacral dysostosis,UMLS ID:C0432291,Mandibuloacral dysostosis | Mandibuloacral dysostosis (disorder) | Mandibuloacral dysplasia | Familial mandibuloacral dysplasia | Craniomandibular dermatodysostosis,SNOMEDCT ID:109419009,,,mandibuloacral dysplasia,MONDO:0016584,,,,,, +BMGC_DS06599,BMG_DS022502,,UMLS ID:C0432292,,,,,familial expansile osteolysis,MONDO:0008275,,,familial expansile osteolysis,DOID:0111542,,OMIM ID:174810 +BMGC_DS06600,BMG_DS022504,,UMLS ID:C0432300,,,,,autosomal dominant ichthyosis vulgaris,MONDO:0007810,,,,,,OMIM ID:146700 +BMGC_DS06601,BMG_DS022506,"Lamellar ichthyosis, autosomal dominant form",UMLS ID:C0432304,,,,,"ichthyosis, lamellar, autosomal dominant",MONDO:0007812,,MeSH ID:C537263,,,,OMIM ID:146750 +BMGC_DS06602,BMG_DS022507,,UMLS ID:C0432306,,,,,superficial epidermolytic ichthyosis,MONDO:0007813,,,bullous congenital ichthyosiform erythroderma,DOID:0060877,,OMIM ID:146800 +BMGC_DS06603,BMG_DS022509,,UMLS ID:C0432311,,,,,"ichthyosis histrix, Lambert type",MONDO:0007809,,,,,,OMIM ID:146600 +BMGC_DS06604,BMG_DS022512,,UMLS ID:C0432316,,,,,"epidermolysis bullosa simplex 2F, with mottled pigmentation",MONDO:0007556,,,epidermolysis bullosa simplex with mottled pigmentation,DOID:0111346,,OMIM ID:131960 +BMGC_DS06605,BMG_DS022513,"Epidermolysis bullosa simplex, Ogna type",UMLS ID:C0432317,"Autosomal dominant epidermolysis bullosa simplex | EBS 1 | Epidermolysis bullosa simplex, Ogna type | Epidermolysis bullosa simplex of Ogna | Autosomal dominant epidermolysis bullosa simplex (disorder) | Epidermolysis bullosa simplex, Ogna type (disorder) | Epidermolysis bullosa simplex, Ogna type | Epidermolysis bullosa simplex of Ogna",SNOMEDCT ID:60518002 | SNOMEDCT ID:398071000,,,"pidermolysis bullosa simplex 5A, Ogna type",MONDO:0007555,,MeSH ID:C535962,,,,OMIM ID:131950 +BMGC_DS06606,BMG_DS022515,,UMLS ID:C0432321,,,,,pretibial dystrophic epidermolysis bullosa,MONDO:0007552,,,,,,OMIM ID:131850 +BMGC_DS06607,BMG_DS022516,,UMLS ID:C0432322,,,,,generalized dominant dystrophic epidermolysis bullosa,MONDO:0007549,,,,,,OMIM ID:131750 +BMGC_DS06608,BMG_DS022518,Junctional epidermolysis bullosa mitis,UMLS ID:C0432326,Junctional epidermolysis bullosa mitis | Junctional epidermolysis bullosa mitis (disorder) | Generalized atrophic benign epidermolysis bullosa - GABEB | Generalised atrophic benign epidermolysis bullosa - GABEB | Junctional epidermolysis bullosa generalized intermediate | Junctional epidermolysis bullosa generalised intermediate | Generalised junctional epidermolysis bullosa non-Herlitz type | Generalized junctional epidermolysis bullosa non-Herlitz type | Junctional epidermolysis bullosa Disentis type,SNOMEDCT ID:254196004,,,generalized junctional epidermolysis bullosa non-Herlitz type,MONDO:0019307,,,,,, +BMGC_DS06609,BMG_DS022522,Cutis Laxa-Marfanoid Syndrome,UMLS ID:C0432335,,,,,cutis laxa - Marfanoid syndrome,MONDO:0013574,,MeSH ID:C563639,,,,OMIM ID:614100 +BMGC_DS06610,BMG_DS022523,,UMLS ID:C0432336,,,,,,,,,autosomal recessive cutis laxa type I,DOID:0070144,, +BMGC_DS06611,BMG_DS022528,Uncombable hair syndrome,UMLS ID:C0432347,Uncombable hair syndrome | Uncombable hair syndrome (disorder) | Uncombable hair syndrome | Spun glass hair | Pili trianguli et canaliculi | Uncombable hair syndrome (disorder),SNOMEDCT ID:254232009 | SNOMEDCT ID:254230001,,,uncombable hair syndrome,MONDO:0008621,,MeSH ID:C536939,,,, +BMGC_DS06612,BMG_DS022530,,UMLS ID:C0432357,,,,,isolated congenital breast hypoplasia/aplasia,MONDO:0015855,,,,,, +BMGC_DS06613,BMG_DS022531,Isotretinoin embryopathy like syndrome,UMLS ID:C0432364,,,,,isotretinoin-like syndrome,MONDO:0009473,,MeSH ID:C535542,,,,OMIM ID:243440 +BMGC_DS06614,BMG_DS022551,"Down Syndrome, Partial Trisomy 21",UMLS ID:C0432416,,,,,,,Down Syndrome,MeSH ID:D004314,,,, +BMGC_DS06615,BMG_DS022552,"Trisomy 21, Meiotic Nondisjunction",UMLS ID:C0432417,,,,,,,Down Syndrome,MeSH ID:D004314,,,, +BMGC_DS06616,BMG_DS022568,Chromosome 18p deletion syndrome,UMLS ID:C0432442,,,,,chromosome 18p deletion syndrome,MONDO:0007800,,MeSH ID:C538309,chromosome 18p deletion syndrome,DOID:0060406,,OMIM ID:146390 +BMGC_DS06617,BMG_DS022569,Deletion of long arm of chromosome 18,UMLS ID:C0432443,Deletion of arm of chromosome 18: [long] or [p] | 18p- syndrome | Deletion of long arm of chromosome 18 | Deletion of arm of chromosome 18: [long] or [p] (disorder) | Deletion of long arm of chromosome 18 | 18q- syndrome | Deletion of long arm of chromosome 18 (disorder),SNOMEDCT ID:205631008 | SNOMEDCT ID:270889005,,,chromosome 18q deletion syndrome,MONDO:0011147,,,,,,OMIM ID:601808 +BMGC_DS06618,BMG_DS022593,,UMLS ID:C0432487,,,,,post-transplant lymphoproliferative disease,MONDO:0019088,,,,,, +BMGC_DS06619,BMG_DS022594,,UMLS ID:C0432520,,,,,lower lip cancer,MONDO:0004673,,,lower lip cancer,DOID:8883,, +BMGC_DS06620,BMG_DS022596,Proliferative fasciitis,UMLS ID:C0432528,Nodular fasciitis | Pseudosarcomatous fibromatosis | Pseudosarcomatous fasciitis | Proliferative fasciitis | Infiltrative fasciitis | Nodular fasciitis (disorder) | Proliferative fasciitis (morphologic abnormality) | Proliferative fasciitis | Proliferative fasciitis | Proliferative fasciitis (disorder),SNOMEDCT ID:35548007 | SNOMEDCT ID:1295239009 | SNOMEDCT ID:254737002,,,proliferative fasciitis,MONDO:0004831,,,proliferative fasciitis,DOID:9599,, +BMGC_DS06621,BMG_DS022597,Intravascular fasciitis,UMLS ID:C0432529,Intravascular fasciitis | Intravascular fasciitis (disorder),SNOMEDCT ID:254738007,,,intravascular fasciitis,MONDO:0004836,,,intravascular fasciitis,DOID:9603,, +BMGC_DS06622,BMG_DS022598,,UMLS ID:C0432579,,,,,,,,,upper lip cancer,DOID:8630,, +BMGC_DS06623,BMG_DS022599,,UMLS ID:C0432581,,,,,lower gum cancer,MONDO:0004713,,,lower gum cancer,DOID:9125,, +BMGC_DS06624,BMG_DS022629,Non-specific granulomatous orchitis,UMLS ID:C0436545,Non-specific granulomatous orchitis | Non-specific granulomatous orchitis (disorder) | Granulomatous orchitis,SNOMEDCT ID:50390006,,,non-specific granulomatous orchitis,MONDO:0002509,,,granulomatous orchitis,DOID:3089,, +BMGC_DS06625,BMG_DS022631,Myoclonic Encephalopathy,UMLS ID:C0438414,,,,,,,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS06626,BMG_DS022646,,UMLS ID:C0439857,,,,,,,,,substance dependence,DOID:9973,, +BMGC_DS06627,BMG_DS022651,Neuropathy,UMLS ID:C0442874,Neuropathy (disorder) | Neuropathy | Neuropathy (nerve damage) | Neuropathy | PN - Peripheral neuropathy | Peripheral neuropathy | Neuropathy (disorder) | Neuropathy | Neuropathy (disorder) | Disorder of the peripheral nervous system | Disorder of the peripheral nervous system (disorder),SNOMEDCT ID:386033004 | SNOMEDCT ID:264554005 | SNOMEDCT ID:277878001 | SNOMEDCT ID:42658009 | SNOMEDCT ID:277317008 | SNOMEDCT ID:193167000,,,,,,,neuropathy,DOID:870,,OMIM ID:MTHU016030 +BMGC_DS06628,BMG_DS022658,Urolithiasis,UMLS ID:C0451641,Urolithiasis | Urolithiasis (disorder) | Urinary calculus | Urinary stone | Urolith in urinary system | Urolithiasis | Urolithiasis (disorder),SNOMEDCT ID:95566004 | SNOMEDCT ID:198527007,,,urolithiasis,MONDO:0024647,Urolithiasis,MeSH ID:D052878,urolithiasis,DOID:0080653,,OMIM ID:MTHU014570 +BMGC_DS06629,BMG_DS022664,Neuropathy in association with hereditary ataxia,UMLS ID:C0451669,Neuropathy in association with hereditary ataxia | Neuropathy in association with hereditary ataxia (disorder),SNOMEDCT ID:193165008,Ataxia due to mitochondrial mutations,ICD11 ID:8A03.15,,,,,spinocerebellar ataxia with axonal neuropathy 1,DOID:0090115,ICD10 ID:G60.2, +BMGC_DS06630,BMG_DS022674,Posterior Cerebral Artery Syndrome,UMLS ID:C0451681,,,,,,,"Infarction, Posterior Cerebral Artery",MeSH ID:D020762,,,, +BMGC_DS06631,BMG_DS022686,Immunodeficiency following hereditary defective response to Epstein-Barr virus,UMLS ID:C0451697,Immunodeficiency following hereditary defective response to Epstein-Barr virus | Immunodeficiency following hereditary defective response to Epstein-Barr virus (disorder),SNOMEDCT ID:191008001,Immune dysregulation syndromes presenting primarily with lymphoproliferation,ICD11 ID:4A01.22,,,,,X-linked lymphoproliferative syndrome 1 | X-linked lymphoproliferative syndrome 2,DOID:0060706;DOID:0060705,ICD10 ID:D82.3, +BMGC_DS06632,BMG_DS022704,"Nephrotic syndrome, focal and segmental glomerular lesions",UMLS ID:C0451720,"Nephrotic syndrome, focal and segmental glomerular lesions | Nephrotic syndrome, focal and segmental glomerular lesions (disorder)",SNOMEDCT ID:197594005,,,,,,,,,, +BMGC_DS06633,BMG_DS022818,"Conductive hearing loss, bilateral",UMLS ID:C0452136,"Conductive hearing loss, bilateral | Conductive hearing loss, bilateral (disorder)",SNOMEDCT ID:194417009,Acquired conductive hearing loss,ICD11 ID:AB51.0,,,,,,,ICD10 ID:H90.0,OMIM ID:MTHU046055 +BMGC_DS06634,BMG_DS022820,Sensorineural hearing loss of bilateral ears,UMLS ID:C0452138,Sensorineural hearing loss of bilateral ears | Sensorineural hearing loss of both ears | Sensorineural hearing loss of bilateral ears (disorder),SNOMEDCT ID:194424005,,,,,,,,,, +BMGC_DS06635,BMG_DS022856,,UMLS ID:C0454542,,,,,,,,,stuttering,DOID:0060243,, +BMGC_DS06636,BMG_DS022882,Oral Dyskinesia,UMLS ID:C0454606,,,,,,,Dyskinesias,MeSH ID:D020820,,,, +BMGC_DS06637,BMG_DS022901,Expressive language delay,UMLS ID:C0454641,Expressive language delay | Expressive language delay (disorder) | Developmental expressive language delay | Expressive developmental language delay,SNOMEDCT ID:229734008,,,,,,,,,,OMIM ID:MTHU018110 +BMGC_DS06638,BMG_DS022905,Benedict Syndrome,UMLS ID:C0455715,,,,,,,Brain Stem Infarctions,MeSH ID:D020526,,,, +BMGC_DS06639,BMG_DS022906,Foville Syndrome,UMLS ID:C0455716,,,,,,,Brain Stem Infarctions,MeSH ID:D020526,,,, +BMGC_DS06640,BMG_DS022907,Weber Syndrome,UMLS ID:C0455717,,,,,Weber syndrome,MONDO:0023642,Brain Stem Infarctions,MeSH ID:D020526,,,, +BMGC_DS06641,BMG_DS022908,Top of the Basilar Syndrome,UMLS ID:C0455718,,,,,,,Brain Stem Infarctions,MeSH ID:D020526,,,, +BMGC_DS06642,BMG_DS022918,"Hydrops Fetalis, Non-Immune",UMLS ID:C0455988,,,,,non-immune hydrops fetalis,MONDO:0009369,Hydrops Fetalis,MeSH ID:D015160,,,,OMIM ID:236750 +BMGC_DS06643,BMG_DS022919,Immune Hydrops Fetalis,UMLS ID:C0455990,,,,,immune hydrops fetalis,MONDO:0018221,Hydrops Fetalis,MeSH ID:D015160,,,, +BMGC_DS06644,BMG_DS022974,Sepsis of the newborn,UMLS ID:C0456103,Sepsis of the newborn | Sepsis of the newborn (disorder),SNOMEDCT ID:206376005,,,neonatal sepsis,MONDO:0700217,,,,,, +BMGC_DS06645,BMG_DS022977,Neonatal meningitis,UMLS ID:C0456107,Neonatal meningitis | Neonatal meningitis (disorder),SNOMEDCT ID:276674008,,,,,,,,,, +BMGC_DS06646,BMG_DS022991,Osteopenia of prematurity,UMLS ID:C0456127,Osteopenia of prematurity | Osteopenic rickets | Osteopenia of prematurity (disorder),SNOMEDCT ID:276703007,,,,,,,,,, +BMGC_DS06647,BMG_DS022996,Simple Endometrial Hyperplasia,UMLS ID:C0456483,,,,,simple endometrial hyperplasia | obsolete endometrial hyperplasia,MONDO:0006410;MONDO:0041161,Endometrial Hyperplasia,MeSH ID:D004714,endometrial hyperplasia,DOID:0080365,, +BMGC_DS06648,BMG_DS022997,,UMLS ID:C0456487,,,,,Peutz-Jeghers polyp,MONDO:0006365,,,Peutz-Jeghers syndrome,DOID:3852,, +BMGC_DS06649,BMG_DS023001,"Median Neuropathy, Proximal",UMLS ID:C0456516,,,,,,,Median Neuropathy,MeSH ID:D020423,,,, +BMGC_DS06650,BMG_DS023015,,UMLS ID:C0456845,,,,,,,,,non-secretory myeloma,DOID:9547,, +BMGC_DS06651,BMG_DS023017,,UMLS ID:C0456889,,,,,enteropathy-associated T-cell lymphoma,MONDO:0019473,,,,,, +BMGC_DS06652,BMG_DS023018,,UMLS ID:C0456891,,,,,familial primary pulmonary hypoplasia,MONDO:0009936,,,,,,OMIM ID:265430 +BMGC_DS06653,BMG_DS023019,Blindness,UMLS ID:C0456909,Blindness | Blindness (finding) | Low vision | Visual loss | Decreased vision | Vision problem | Abnormal vision | Can't see properly | Impaired vision | Loss of vision | Partial sight | Problem seeing | Visual impairment | Visual disorder | Unable to see | UTS - Unable to see | Sight impaired | Reduced ability to see | Problem sight | Poor vision | LV - Low vision | Difficulty seeing | Cannot see properly | Cannot see | Vision problem (disorder),SNOMEDCT ID:139548004 | SNOMEDCT ID:40031005,,,blindness (disorder),MONDO:0001941,Blindness,MeSH ID:D001766,,,,OMIM ID:MTHU001370 +BMGC_DS06654,BMG_DS023027,Weyers acrofacial dysostosis,UMLS ID:C0457013,Curry-Hall syndrome | Curry-Hall syndrome (disorder) | Acrofacial dysostosis Weyers type | Weyers acrofacial dysostosis | Weyers acrodental dysostosis,SNOMEDCT ID:277807007,,,"acrofacial dysostosis, Weyers type",MONDO:0008673,,MeSH ID:C536695,Weyers acrofacial dysostosis,DOID:0111571,,OMIM ID:193530 +BMGC_DS06655,BMG_DS023030,Muscle eye brain disease,UMLS ID:C0457133,Muscle eye brain disease | Muscle eye brain disease (disorder),SNOMEDCT ID:277950001,,,muscle-eye-brain disease,MONDO:0018939,,,,,, +BMGC_DS06656,BMG_DS023060,Complex Regional Pain Syndromes,UMLS ID:C0458219,,,,,complex regional pain syndrome,MONDO:0019369,Complex Regional Pain Syndromes,MeSH ID:D020918,complex regional pain syndrome,DOID:3223,, +BMGC_DS06657,BMG_DS023108,Generalized myasthenia,UMLS ID:C0472367,Generalised myasthenia | Generalized myasthenia | Generalized myasthenia (disorder),SNOMEDCT ID:230686005,,,,,,,,,, +BMGC_DS06658,BMG_DS023109,Hemorrhagic cerebral infarction,UMLS ID:C0472369,Hemorrhagic cerebral infarction | Haemorrhagic cerebral infarction | Hemorrhagic cerebral infarction (disorder),SNOMEDCT ID:230706003,,,,,,,,,, +BMGC_DS06659,BMG_DS023112,Posterior Circulation Transient Ischemic Attack,UMLS ID:C0472381,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS06660,BMG_DS023127,,UMLS ID:C0472694,,,,,cavernous hemangiomas of face-supraumbilical midline raphe syndrome,MONDO:0007706,,,,,,OMIM ID:140850 +BMGC_DS06661,BMG_DS023138,Anemia of renal disease,UMLS ID:C0472713,Anaemia of renal disease | Anemia of renal disease | Anemia of renal disease (disorder) | Nephrogenic anemia | Nephrogenic anaemia,SNOMEDCT ID:234348004,,,,,,,,,, +BMGC_DS06662,BMG_DS023171,Alpha trait thalassemia,UMLS ID:C0472762,Alpha trait thalassemia | Alpha trait thalassaemia | Alpha trait thalassemia (disorder) | Alpha thalassaemia trait | Alpha thalassemia trait,SNOMEDCT ID:191187006,,,,,,,,,, +BMGC_DS06663,BMG_DS023175,Beta thalassemia intermedia,UMLS ID:C0472767,Beta thalassemia intermedia | Beta thalassaemia intermedia | Beta thalassemia intermedia (disorder),SNOMEDCT ID:191189009,,,beta-thalassemia intermedia,MONDO:0016487,,,,,, +BMGC_DS06664,BMG_DS023181,Hemoglobin E/beta thalassemia disease,UMLS ID:C0472777,Hemoglobin E/beta thalassemia disease | Double heterozygous for Hb E and beta thalassaemia | Haemoglobin E/beta thalassaemia disease | Double heterozygous for Hb E and beta thalassemia | Hemoglobin E/beta thalassemia disease (disorder),SNOMEDCT ID:234392002,,,hemoglobin E-beta-thalassemia syndrome,MONDO:0016491,,,,,, +BMGC_DS06665,BMG_DS023193,Hemolytic anemia due to hexokinase deficiency,UMLS ID:C0472792,Hemolytic anemia due to hexokinase deficiency | Haemolytic anaemia due to hexokinase deficiency | Hemolytic anemia due to hexokinase deficiency (disorder),SNOMEDCT ID:191177007,,,,,,,,,, +BMGC_DS06666,BMG_DS023202,Hypodysfibrinogenemia,UMLS ID:C0472803,Hypodysfibrinogenaemia | Hypodysfibrinogenemia | Hypodysfibrinogenemia (disorder),SNOMEDCT ID:234458004,,,,,,,,,, +BMGC_DS06667,BMG_DS023209,X-linked agammaglobulinemia with growth hormone deficiency,UMLS ID:C0472813,X-linked agammaglobulinemia with growth hormone deficiency | Fleisher syndrome | X-linked agammaglobulinaemia with growth hormone deficiency | X-linked agammaglobulinemia with growth hormone deficiency (disorder) | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinaemia | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,SNOMEDCT ID:234533006,,,isolated growth hormone deficiency type III,MONDO:0010615,,,,,,OMIM ID:307200 +BMGC_DS06668,BMG_DS023212,WHIM syndrome,UMLS ID:C0472817,,,,,WHIM syndrome,MONDO:0023880,,MeSH ID:C536697,WHIM syndrome 1,DOID:0060591,, +BMGC_DS06669,BMG_DS023236,Renal hypouricemia,UMLS ID:C0473219,,,,,"hypouricemia, renal 1",MONDO:0020728,,MeSH ID:C537757,,,,OMIM ID:220150 +BMGC_DS06670,BMG_DS023298,Hypoalphalipoproteinemias,UMLS ID:C0473527,,,,,,,Hypoalphalipoproteinemias,MeSH ID:D052456,,,, +BMGC_DS06671,BMG_DS023307,Vibratory angioedema,UMLS ID:C0473546,Vibratory angio-oedema | Vibratory angioedema (disorder) | Vibratory angioedema,SNOMEDCT ID:238694002,,,vibratory angioedema | autosomal dominant vibratory urticaria,MONDO:0007447;MONDO:0034556,,MeSH ID:C536347,,,,OMIM ID:193050 | OMIM ID:125630 +BMGC_DS06672,BMG_DS023322,,UMLS ID:C0473563,,,,,Achenbach syndrome,MONDO:0006520,,,Achenbach syndrome,DOID:6687,, +BMGC_DS06673,BMG_DS023328,,UMLS ID:C0473579,,,,,porokeratotic eccrine ostial and dermal duct nevus,MONDO:0015635,,,,,, +BMGC_DS06674,BMG_DS023330,Michelin tire baby syndrome,UMLS ID:C0473586,,,,,multiple benign circumferential skin creases on limbs,MONDO:0007990,,MeSH ID:C537575,,,, +BMGC_DS06675,BMG_DS023406,Nerve fiber bundle defect,UMLS ID:C0474334,Nerve fiber bundle defect | Nerve fibre bundle defect | Nerve fiber bundle defect (disorder),SNOMEDCT ID:87194000,,,,,,,nerve fibre bundle defect,DOID:5678,, +BMGC_DS06676,BMG_DS023411,Optic Disc Neovascularization,UMLS ID:C0474354,,,,,,,Retinal Neovascularization,MeSH ID:D015861,,,, +BMGC_DS06677,BMG_DS023418,Corneal edema caused by wearing of contact lenses,UMLS ID:C0474442,Contact lens corneal oedema | Contact lens-induced central corneal oedema | Contact lens corneal edema | Contact lens-induced central corneal edema | Corneal edema caused by wearing of contact lenses (disorder) | Corneal oedema caused by wearing of contact lenses | Corneal edema caused by wearing of contact lenses | Corneal oedema caused by contact lens | Corneal edema caused by contact lens,SNOMEDCT ID:49362009,,,contact lens corneal edema,MONDO:0001183,,,contact lens corneal edema,DOID:11034,, +BMGC_DS06678,BMG_DS023421,,UMLS ID:C0474809,,,,,endometrioid tumor,MONDO:0002480,,,female reproductive endometrioid cancer,DOID:3001,, +BMGC_DS06679,BMG_DS023427,,UMLS ID:C0474847,,,,,malignant melanocytic neoplasm of the peripheral nerve sheath,MONDO:0003863,,,malignant melanocytic neoplasm of the peripheral nerve sheath,DOID:6345,, +BMGC_DS06680,BMG_DS023429,,UMLS ID:C0474962,,,,,,,,,upper lip cancer,DOID:8630,, +BMGC_DS06681,BMG_DS023430,,UMLS ID:C0474963,,,,,,,,,tongue cancer,DOID:8649,, +BMGC_DS06682,BMG_DS023433,,UMLS ID:C0474966,,,,,dermal unilateral segmental cavernous angioma,MONDO:0002526,,,dermal unilateral segmental cavernous angioma,DOID:3148,, +BMGC_DS06683,BMG_DS023495,Disorder of keratinization,UMLS ID:C0475811,Disorder of keratinisation | Disorder of keratinization | Disorder of keratinization (disorder),SNOMEDCT ID:277905003,,,keratinization disease,MONDO:0045011,,,,,, +BMGC_DS06684,BMG_DS023496,Alpha thalassaemia-mental retardation syndrome,UMLS ID:C0475813,Alpha thalassaemia-mental retardation syndrome | Alpha thalassemia-mental retardation syndrome | Alpha thalassemia-mental retardation syndrome (disorder),SNOMEDCT ID:277918006,,,,,,,,,, +BMGC_DS06685,BMG_DS023498,,UMLS ID:C0476089,,,,,endometrial carcinoma,MONDO:0002447,,,endometrial carcinoma,DOID:2871,, +BMGC_DS06686,BMG_DS023499,,UMLS ID:C0476121,,,,,ovarian papillary tumor,MONDO:0003813,,,ovarian papillary neoplasm,DOID:6214,, +BMGC_DS06687,BMG_DS023501,,UMLS ID:C0476144,,,,,hemangiopericytic tumor,MONDO:0002789,,,hemangiopericytic tumor,DOID:3850,, +BMGC_DS06688,BMG_DS023503,,UMLS ID:C0476203,,,,,synovium neoplasm,MONDO:0002528,,,synovium neoplasm,DOID:315,, +BMGC_DS06689,BMG_DS023504,,UMLS ID:C0476254,,,,,dyslexia,MONDO:0005489,,,dyslexia,DOID:4428,, +BMGC_DS06690,BMG_DS023505,,UMLS ID:C0476287,,,,,breath-holding Spells,MONDO:0011861,,,,,,OMIM ID:607578 +BMGC_DS06691,BMG_DS023521,Other specified coagulation defects,UMLS ID:C0477316,,,"Coagulation defects, unspecified",ICD11 ID:3B4Z,,,,,alpha-2-plasmin inhibitor deficiency,DOID:0060601,ICD10 ID:D68.8, +BMGC_DS06692,BMG_DS023522,Other primary thrombocytopenia,UMLS ID:C0477317,,,"Thrombocytopenia, unspecified",ICD11 ID:3B64.Z,,,,,autosomal dominant isolated macrothrombocytopenia 1 | primary thrombocytopenia | platelet-type bleeding disorder 16 | MYH-9 related disease | platelet-type bleeding disorder 19 | primary thrombocytopenia,DOID:8925;DOID:0060691;DOID:0090102;DOID:0060651;DOID:0111048;DOID:8925,ICD10 ID:D69.4 | ICD10 ID:D69.49, +BMGC_DS06693,BMG_DS023523,Other specified disorders of white blood cells,UMLS ID:C0477318,,,"Immune system disorders involving white cell lineages, unspecified",ICD11 ID:4B0Z,,,,,autoimmune lymphoproliferative syndrome type 4,DOID:0110117,ICD10 ID:D72.8 | ICD10 ID:D72.89, +BMGC_DS06694,BMG_DS023528,Other combined immunodeficiencies,UMLS ID:C0477324,,,"Combined immunodeficiencies, unspecified",ICD11 ID:4A01.1Z,,,,,Omenn syndrome,DOID:0060010,ICD10 ID:D81.8 | ICD10 ID:D81.89, +BMGC_DS06695,BMG_DS023545,,UMLS ID:C0477355,,,,,extrapyramidal and movement disease,MONDO:0001815,,,extrapyramidal and movement disease,DOID:13839,, +BMGC_DS06696,BMG_DS023549,Other dystonia,UMLS ID:C0477360,,,Other specified dystonic disorders,ICD11 ID:8A02.Y,,,,,dystonia 23 | dystonia 24 | episodic kinesigenic dyskinesia 1 | paroxysmal nonkinesigenic dyskinesia 1,DOID:0090052;DOID:0090051;DOID:0090053;DOID:0090049,ICD10 ID:G24.8, +BMGC_DS06697,BMG_DS023550,Other specified extrapyramidal and movement disorders,UMLS ID:C0477362,,,"Movement disorders, unspecified",ICD11 ID:8A0Z,,,,,hyperekplexia 2 | hyperekplexia 3,DOID:0060697;DOID:0060698,ICD10 ID:G25.8 | ICD10 ID:G25.89, +BMGC_DS06698,BMG_DS023552,Other specified degenerative diseases of nervous system,UMLS ID:C0477365,,,"Disorders with neurocognitive impairment as a major feature, unspecified",ICD11 ID:8A2Z,,,,,Aicardi-Goutieres syndrome,DOID:0050629,ICD10 ID:G31.8 | ICD10 ID:G31.89, +BMGC_DS06699,BMG_DS023558,Other forms of migraine,UMLS ID:C0477373,Other forms of migraine | Other forms of migraine (disorder),SNOMEDCT ID:193037008,,,,,,,familial hemiplegic migraine,DOID:0060178,, +BMGC_DS06700,BMG_DS023566,Other hereditary and idiopathic neuropathies,UMLS ID:C0477392,,,"Disorders of nerve root, plexus or peripheral nerves, unspecified",ICD11 ID:8C4Z,,,,,hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E,DOID:0070158;DOID:0070149;DOID:0070151,ICD10 ID:G60.8, +BMGC_DS06701,BMG_DS023591,Post-Traumatic Hydrocephalus,UMLS ID:C0477432,,,,,,,Hydrocephalus,MeSH ID:D006849,,,, +BMGC_DS06702,BMG_DS023656,Other chondrocalcinosis,UMLS ID:C0477548,,,Chondrocalcinosis,ICD11 ID:FA26.2,,,,,hyperphosphatemic familial tumoral calcinosis,DOID:0111063,ICD10 ID:M11.2, +BMGC_DS06703,BMG_DS023744,Other chronic tubulo-interstitial nephritis,UMLS ID:C0477729,,,"Chronic tubulointerstitial nephritis, unspecified",ICD11 ID:GB55.Z,,,,,karyomegalic interstitial nephritis,DOID:0060911,ICD10 ID:N11.8, +BMGC_DS06704,BMG_DS023761,Other specified urinary incontinence,UMLS ID:C0477757,,,,,,,,,,,ICD10 ID:N39.4 | ICD10 ID:N39.49 | ICD10 ID:N39.498, +BMGC_DS06705,BMG_DS023815,Other congenital ichthyosis,UMLS ID:C0478084,,,Other specified genetic disorders of keratinisation,ICD11 ID:EC20.Y,,,,,autosomal dominant keratitis-ichthyosis-deafness syndrome | autosomal recessive congenital ichthyosis 11,DOID:0060871;DOID:0060720,ICD10 ID:Q80.8, +BMGC_DS06706,BMG_DS023817,Other congenital malformation syndromes with other skeletal changes,UMLS ID:C0478093,,,"Structural developmental anomalies of the skeleton, unspecified",ICD11 ID:LB9Z,,,,,short-rib thoracic dysplasia 9 with or without polydactyly | Renpenning syndrome,DOID:0110097;DOID:0060179,ICD10 ID:Q87.5, +BMGC_DS06707,BMG_DS023831,,UMLS ID:C0489959,,,,,,,,,rheumatic myocarditis,DOID:8481,, +BMGC_DS06708,BMG_DS023834,Low compliance bladder,UMLS ID:C0489967,Low compliance bladder | Hypertonic bladder | Low compliance urinary bladder | Low compliance urinary bladder (disorder),SNOMEDCT ID:9009001,,,low compliance bladder,MONDO:0001446,,,low compliance bladder,DOID:12144,, +BMGC_DS06709,BMG_DS023844,Infection due to Brucella canis,UMLS ID:C0494040,Canine brucellosis | Infection due to Brucella canis | Canine abortion syndrome | Canine brucellosis (disorder) | Brucella canis infection | Infection caused by Brucella canis | Infection caused by Brucella canis (disorder),SNOMEDCT ID:78576009 | SNOMEDCT ID:428174001,,,Brucella canis brucellosis,MONDO:0001857,,,Brucella canis brucellosis,DOID:14019,, +BMGC_DS06710,BMG_DS023889,,UMLS ID:C0494158,,,,,,,,,kidney cancer,DOID:263,, +BMGC_DS06711,BMG_DS023892,Other nutritional anemias,UMLS ID:C0494219,,,,,,,,,,,ICD10 ID:D53, +BMGC_DS06712,BMG_DS023899,Other hereditary hemolytic anemias,UMLS ID:C0494230,,,,,,,,,,,ICD10 ID:D58, +BMGC_DS06713,BMG_DS023910,Other specified immunodeficiencies,UMLS ID:C0494266,,,"Diseases of the immune system, unspecified",ICD11 ID:4B4Z,,,,,immunodeficiency-centromeric instability-facial anomalies syndrome | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | immunodeficiency-centromeric instability-facial anomalies syndrome 4 | immunodeficiency-centromeric instability-facial anomalies syndrome 2 | immunodeficiency-centromeric instability-facial anomalies syndrome 3,DOID:0090009;DOID:0090007;DOID:0090010;DOID:0090008;DOID:0090011,ICD10 ID:D84.8, +BMGC_DS06714,BMG_DS023913,Other hypothyroidism,UMLS ID:C0494271,,,,,,,,,,,ICD10 ID:E03, +BMGC_DS06715,BMG_DS023919,Hyperparathyroidism and other disorders of parathyroid gland,UMLS ID:C0494304,,,,,,,,,,,ICD10 ID:E21, +BMGC_DS06716,BMG_DS023921,Hypofunction and other disorders of the pituitary gland,UMLS ID:C0494308,,,,,,,,,,,ICD10 ID:E23, +BMGC_DS06717,BMG_DS023923,Other disorders of adrenal gland,UMLS ID:C0494313,,,,,,,,,,,ICD10 ID:E27, +BMGC_DS06718,BMG_DS023929,Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism,UMLS ID:C0494332,,,,,,,,,,,ICD10 ID:E71, +BMGC_DS06719,BMG_DS023930,Other disorders of amino-acid metabolism,UMLS ID:C0494334,,,,,,,,,,,ICD10 ID:E72, +BMGC_DS06720,BMG_DS023931,Other disorders of carbohydrate metabolism,UMLS ID:C0494336,,,,,,,,,,,ICD10 ID:E74, +BMGC_DS06721,BMG_DS023932,Disorders of sphingolipid metabolism and other lipid storage disorders,UMLS ID:C0494338,,,,,,,,,,,ICD10 ID:E75, +BMGC_DS06722,BMG_DS023934,Disorders of porphyrin and bilirubin metabolism,UMLS ID:C0494347,,,,,,,,,,,ICD10 ID:E80, +BMGC_DS06723,BMG_DS023939,"Lipodystrophy, not elsewhere classified",UMLS ID:C0494360,,,"Metabolic disorders, unspecified",ICD11 ID:5D2Z,,,,,congenital generalized lipodystrophy type 2 | congenital generalized lipodystrophy type 4 | congenital generalized lipodystrophy type 1 | congenital generalized lipodystrophy type 3,DOID:0111137;DOID:0111136;DOID:0111138;DOID:0111135,ICD10 ID:E88.1, +BMGC_DS06724,BMG_DS023950,Spinal muscular atrophy and related syndromes,UMLS ID:C0494452,,,,,,,,,,,ICD10 ID:G12, +BMGC_DS06725,BMG_DS023954,"Alzheimer Disease, Late Onset",UMLS ID:C0494463,,,,,,,Alzheimer Disease,MeSH ID:D000544,,,, +BMGC_DS06726,BMG_DS023955,"Other degenerative diseases of nervous system, not elsewhere classified",UMLS ID:C0494464,,,,,,,,,,,ICD10 ID:G31, +BMGC_DS06727,BMG_DS023965,Mononeuropathies,UMLS ID:C0494491,,,,,mononeuropathy,MONDO:0001397,Mononeuropathies,MeSH ID:D020422,mononeuropathy,DOID:1188,, +BMGC_DS06728,BMG_DS023971,Other disorders of brain,UMLS ID:C0494513,,,,,,,,,,,ICD10 ID:G93, +BMGC_DS06729,BMG_DS023987,,UMLS ID:C0494559,,,,,inner ear disorder,MONDO:0002467,,,inner ear disease,DOID:2952,, +BMGC_DS06730,BMG_DS023988,"Other disorders of ear, not elsewhere classified",UMLS ID:C0494566,,,,,,,,,,,ICD10 ID:H93, +BMGC_DS06731,BMG_DS023995,Other pulmonary heart diseases,UMLS ID:C0494585,,,,,,,,,,,ICD10 ID:I27, +BMGC_DS06732,BMG_DS024047,"Noninfective gastroenteritis and colitis, unspecified",UMLS ID:C0494762,,,"Diseases of the digestive system, unspecified",ICD11 ID:DE2Z,,,,,ileocolitis,DOID:0060190,ICD10 ID:K52.9, +BMGC_DS06733,BMG_DS024076,Other nonscarring hair loss,UMLS ID:C0494856,,,,,,,,,,,ICD10 ID:L65, +BMGC_DS06734,BMG_DS024078,Other follicular disorders,UMLS ID:C0494864,,,,,,,,,,,ICD10 ID:L73, +BMGC_DS06735,BMG_DS024085,Other rheumatoid arthritis,UMLS ID:C0494897,,,,,,,,,,,ICD10 ID:M06, +BMGC_DS06736,BMG_DS024086,Other arthritis,UMLS ID:C0494904,,,,,,,,,,,ICD10 ID:M13, +BMGC_DS06737,BMG_DS024090,"Other joint disorder, not elsewhere classified",UMLS ID:C0494938,,,,,,,,,,,ICD10 ID:M25, +BMGC_DS06738,BMG_DS024108,Other disorders of bone density and structure,UMLS ID:C0495004,,,,,,,,,,,ICD10 ID:M85, +BMGC_DS06739,BMG_DS024109,Other disorders of bone,UMLS ID:C0495006,,,,,,,,,,,ICD10 ID:M89, +BMGC_DS06740,BMG_DS024140,,UMLS ID:C0495094,,,,,,,,,hernia of ovary and fallopian tube,DOID:12735,, +BMGC_DS06741,BMG_DS024172,Noninfective neonatal diarrhea,UMLS ID:C0495452,,,Noninfectious neonatal diarrhoea,ICD11 ID:KB8C,,,,,congenital secretory sodium diarrhea 3 | congenital diarrhea 6 | congenital secretory sodium diarrhea 8 | congenital diarrhea 5 with tufting enteropathy | congenital diarrhea 7 with exudative enteropathy | congenital malabsorptive diarrhea 4,DOID:0060779;DOID:0060776;DOID:0060777;DOID:0060780;DOID:0060781;DOID:0060778,ICD10 ID:P78.3, +BMGC_DS06742,BMG_DS024179,,UMLS ID:C0495632,,,,,,,,,neurofibromatosis,DOID:8712,, +BMGC_DS06743,BMG_DS024180,Other specified congenital malformation syndromes affecting multiple systems,UMLS ID:C0495636,,,,,,,,,,,ICD10 ID:Q87, +BMGC_DS06744,BMG_DS024181,Congenital malformation syndromes involving early overgrowth,UMLS ID:C0495640,,,Overgrowth syndromes,ICD11 ID:LD2C,,,,,CLOVES syndrome,DOID:0080351,ICD10 ID:Q87.3, +BMGC_DS06745,BMG_DS024184,,UMLS ID:C0496755,,,,,,,,,tongue cancer,DOID:8649,, +BMGC_DS06746,BMG_DS024185,,UMLS ID:C0496758,,,,,,,,,oral cavity cancer,DOID:8618,, +BMGC_DS06747,BMG_DS024187,,UMLS ID:C0496765,,,,,,,,,epiglottis cancer,DOID:8133,, +BMGC_DS06748,BMG_DS024188,,UMLS ID:C0496769,,,,,postcricoid region cancer,MONDO:0004635,,,postcricoid region cancer,DOID:8660,, +BMGC_DS06749,BMG_DS024189,,UMLS ID:C0496770,,,,,,,,,hypopharynx cancer,DOID:8533,, +BMGC_DS06750,BMG_DS024191,,UMLS ID:C0496775,,,,,malignant neoplasm of abdominal esophagus,MONDO:0021324,,,esophageal cancer,DOID:5041,, +BMGC_DS06751,BMG_DS024192,,UMLS ID:C0496779,,,,,appendix cancer,MONDO:0001235,,,appendix cancer,DOID:11239,, +BMGC_DS06752,BMG_DS024193,,UMLS ID:C0496784,,,,,,,,,islet cell tumor,DOID:1799,, +BMGC_DS06753,BMG_DS024195,,UMLS ID:C0496814,,,,,labium majus cancer,MONDO:0001403,,,labium majus cancer,DOID:11905,, +BMGC_DS06754,BMG_DS024196,,UMLS ID:C0496815,,,,,labia minora cancer,MONDO:0001526,,,labia minora cancer,DOID:1243,, +BMGC_DS06755,BMG_DS024197,,UMLS ID:C0496826,,,,,bladder trigone cancer,MONDO:0001375,,,bladder trigone cancer,DOID:11813,, +BMGC_DS06756,BMG_DS024198,,UMLS ID:C0496827,,,,,bladder dome cancer,MONDO:0001380,,,bladder dome cancer,DOID:11820,, +BMGC_DS06757,BMG_DS024199,,UMLS ID:C0496828,,,,,bladder lateral wall cancer,MONDO:0001319,,,bladder lateral wall cancer,DOID:11593,, +BMGC_DS06758,BMG_DS024200,,UMLS ID:C0496833,,,,,ciliary body cancer,MONDO:0002969,,,ciliary body cancer,DOID:4352,, +BMGC_DS06759,BMG_DS024202,,UMLS ID:C0496838,,,,,malignant olfactory nerve neoplasm,MONDO:0851100,,,malignant olfactory nerve neoplasm,DOID:370,, +BMGC_DS06760,BMG_DS024203,,UMLS ID:C0496842,,,,,pituitary cancer,MONDO:0002109,,,pituitary cancer,DOID:1785,, +BMGC_DS06761,BMG_DS024204,,UMLS ID:C0496854,,,,,,,,,liver carcinoma in situ,DOID:9132,, +BMGC_DS06762,BMG_DS024216,Lymphadenopathy,UMLS ID:C0497156,Lymphadenopathy | Lymphadenopathy (finding) | Enlargement of lymph nodes | Lymphadenopathy | Swelling of lymph nodes | Lymphadenopathy (disorder),SNOMEDCT ID:139134006 | SNOMEDCT ID:30746006 | SNOMEDCT ID:271821001 | SNOMEDCT ID:161878009,,,,,Lymphadenopathy,MeSH ID:D000072281,,,,OMIM ID:MTHU002630 +BMGC_DS06763,BMG_DS024218,,UMLS ID:C0497243,,,,,cardiovascular neoplasm,MONDO:0024757,,,cardiovascular cancer,DOID:176,, +BMGC_DS06764,BMG_DS024220,,UMLS ID:C0497327,,,,,dementia,MONDO:0001627,,,,,, +BMGC_DS06765,BMG_DS024224,,UMLS ID:C0497552,,,,,congenital nervous system disorder,MONDO:0002320,,,,,, +BMGC_DS06766,BMG_DS024229,Pneumonia due to Klebsiella pneumoniae,UMLS ID:C0519030,Pneumonia caused by Klebsiella pneumoniae (disorder) | Pneumonia caused by Klebsiella pneumoniae,SNOMEDCT ID:64479007,Pneumonia due to Klebsiella pneumoniae,ICD11 ID:CA40.03,Klebsiella pneumonia,MONDO:0030602,,,,,ICD10 ID:J15.0, +BMGC_DS06767,BMG_DS024231,,UMLS ID:C0519037,,,,,colon lymphoma,MONDO:0002035,,,colon lymphoma,DOID:1523,, +BMGC_DS06768,BMG_DS024234,,UMLS ID:C0519063,,,,,,,,,lung lymphoma,DOID:6760,, +BMGC_DS06769,BMG_DS024238,Necrotizing Enterocolitis,UMLS ID:C0520459,,,,,necrotizing enterocolitis,MONDO:0005313,"Enterocolitis, Necrotizing",MeSH ID:D020345,perinatal necrotizing enterocolitis,DOID:8677,, +BMGC_DS06770,BMG_DS024241,,UMLS ID:C0520482,,,,,somatization disorder,MONDO:0001830,,,somatization disorder | somatoform disorder,DOID:13918;DOID:4737,, +BMGC_DS06771,BMG_DS024261,Fibrosis of bile duct,UMLS ID:C0520571,Fibrosis of bile duct | Biliary duct fibrosis | Biliary sclerosis | Fibrosis of bile duct (disorder),SNOMEDCT ID:48124008,,,fibrosis of bile duct,MONDO:0041959,,,,,, +BMGC_DS06772,BMG_DS024264,Acute pyelonephritis,UMLS ID:C0520575,Acute pyelonephritis | Acute pyelonephritis (disorder) | Acute PN - pyelonephritis | APN - Acute pyelonephritis | Acute kidney infection | (Acute pyelonephritis) or (acute pyonephrosis) | Acute pyonephrosis | Acute pyelonephritis | Pyonephrosis - acute | (Acute pyelonephritis) or (acute pyonephrosis) (disorder) | Acute pyonephrosis | Acute pyelonephritis | Pyonephrosis - acute | (Acute pyelonephritis) or (acute pyonephrosis) | (Acute pyelonephritis) or (acute pyonephrosis) (disorder) | Acute bacterial tubulointerstitial nephritis | Acute bacterial tubulointerstitial nephritis (disorder) | Acute bacterial TIN (tubulointerstitial nephritis),SNOMEDCT ID:36689008 | SNOMEDCT ID:266620001 | SNOMEDCT ID:155862004 | SNOMEDCT ID:22352007,,,acute pyelonephritis,MONDO:0003529,,,acute pyelonephritis,DOID:559,ICD10 ID:N10, +BMGC_DS06773,BMG_DS024266,Urethral atrophy,UMLS ID:C0520577,Urethral atrophy | Urethral atrophy (disorder),SNOMEDCT ID:52620003,,,,,,,,,, +BMGC_DS06774,BMG_DS024274,"Sleep Apnea, Obstructive",UMLS ID:C0520679,,,,,obstructive sleep apnea syndrome,MONDO:0007147,"Sleep Apnea, Obstructive",MeSH ID:D020181,obstructive sleep apnea,DOID:0050848,,OMIM ID:107650 +BMGC_DS06775,BMG_DS024275,"Sleep Apnea, Central",UMLS ID:C0520680,,,,,,,"Sleep Apnea, Central",MeSH ID:D020182,central sleep apnea,DOID:9220,, +BMGC_DS06776,BMG_DS024283,Opticocochleodentate Degeneration,UMLS ID:C0520711,,,,,Opticocochleodentate degeneration,MONDO:0009790,,MeSH ID:C563002,,,,OMIM ID:258700 +BMGC_DS06777,BMG_DS024286,Pallidopontonigral degeneration,UMLS ID:C0520716,Pallidopontonigral degeneration | Pallidopontonigral degeneration (disorder),SNOMEDCT ID:42369001,,,,,,,frontotemporal dementia,DOID:9255,, +BMGC_DS06778,BMG_DS024288,Spinopontine Atrophy,UMLS ID:C0520719,,,,,,,"Muscular Disorders, Atrophic",MeSH ID:D020966,,,, +BMGC_DS06779,BMG_DS024293,Retraction Nystagmus,UMLS ID:C0520731,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06780,BMG_DS024298,Hereditary pyropoikilocytosis,UMLS ID:C0520739,Hereditary pyropoikilocytosis | Hereditary pyropoikilocytosis (disorder) | HPP - hereditary pyropoikilocytosis | Hereditary elliptocytosis | Hereditary elliptocytosis (disorder),SNOMEDCT ID:9434008 | SNOMEDCT ID:58864003,,,"pyropoikilocytosis, hereditary",MONDO:0009948,,,,,,OMIM ID:266140 +BMGC_DS06781,BMG_DS024307,Staphylococcal endocarditis,UMLS ID:C0520767,Staphylococcal endocarditis | Staphylococcal endocarditis (disorder),SNOMEDCT ID:73028002,,,,,,,,,, +BMGC_DS06782,BMG_DS024313,Klebsiella cystitis,UMLS ID:C0520775,Klebsiella cystitis | Klebsiella cystitis (disorder),SNOMEDCT ID:60867007,,,,,,,,,, +BMGC_DS06783,BMG_DS024314,Chlamydial pelvic inflammatory disease,UMLS ID:C0520777,Chlamydial pelvic inflammatory disease | Chlamydial pelvic inflammatory disease (disorder) | Pelvic inflammation with female sterility due to Chlamydia trachomatis | Pelvic inflammation with female sterility due to Chlamydia trachomatis (disorder),SNOMEDCT ID:188463006 | SNOMEDCT ID:73107008,,,,,,,,,, +BMGC_DS06784,BMG_DS024361,Brain Stem Infarctions,UMLS ID:C0521542,,,,,brain stem infarction,MONDO:0006686,Brain Stem Infarctions,MeSH ID:D020526,brain stem infarction,DOID:3523,, +BMGC_DS06785,BMG_DS024365,,UMLS ID:C0521573,,,,,coloboma of eyelid,MONDO:0020357,,,,,, +BMGC_DS06786,BMG_DS024377,Peritoneal Fibrosis,UMLS ID:C0521607,,,,,,,Peritoneal Fibrosis,MeSH ID:D056627,,,, +BMGC_DS06787,BMG_DS024379,Emphysematous Cholecystitis,UMLS ID:C0521610,,,,,emphysematous cholecystitis,MONDO:0005742,Emphysematous Cholecystitis,MeSH ID:D041882,emphysematous cholecystitis,DOID:9765,, +BMGC_DS06788,BMG_DS024393,Neonatal respiratory failure,UMLS ID:C0521648,Neonatal respiratory failure | Neonatal respiratory failure (disorder),SNOMEDCT ID:95619009,,,neonatal respiratory failure,MONDO:0001207,,,neonatal respiratory failure,DOID:11161,,OMIM ID:MTHU043071 +BMGC_DS06789,BMG_DS024397,"Motor Neuron Disease, Upper",UMLS ID:C0521659,,,,,,,Motor Neuron Disease,MeSH ID:D016472,,,, +BMGC_DS06790,BMG_DS024398,Acute Confusional Migraine,UMLS ID:C0521664,,,,,,,Migraine Disorders,MeSH ID:D008881,,,, +BMGC_DS06791,BMG_DS024401,Primary Thunderclap Headache,UMLS ID:C0521668,,,,,,,"Headache Disorders, Primary",MeSH ID:D051270,,,, +BMGC_DS06792,BMG_DS024422,Atrophic retina,UMLS ID:C0521694,Atrophic retina (disorder) | Atrophic retina | Retinal atrophy,SNOMEDCT ID:405722004,,,,,,,,,, +BMGC_DS06793,BMG_DS024429,Bilateral cataracts (disorder),UMLS ID:C0521707,Bilateral cataracts | Bilateral cataracts (disorder) | Bilateral cataracts | Bilateral cataracts (disorder) | Cataracts,SNOMEDCT ID:193618003 | SNOMEDCT ID:95722004,,,,,,,,,, +BMGC_DS06794,BMG_DS024440,"Corneal dystrophy, epithelial basement membrane",UMLS ID:C0521723,,,,,epithelial basement membrane dystrophy,MONDO:0007375,,MeSH ID:C535477,epithelial basement membrane dystrophy,DOID:0060447,,OMIM ID:121820 +BMGC_DS06795,BMG_DS024448,Lower eyelid ectropion,UMLS ID:C0521736,Lower eyelid ectropion | Lower eyelid turned out | Ectropion of lower lid | Lower eyelid ectropion (disorder),SNOMEDCT ID:95758006,,,,,,,,,, +BMGC_DS06796,BMG_DS024460,Temporary Nystagmus,UMLS ID:C0521753,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06797,BMG_DS024461,Permanent Nystagmus,UMLS ID:C0521754,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06798,BMG_DS024462,Unidirectional Nystagmus,UMLS ID:C0521755,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06799,BMG_DS024463,Multidirectional Nystagmus,UMLS ID:C0521756,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06800,BMG_DS024464,Conjugate Nystagmus,UMLS ID:C0521757,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06801,BMG_DS024465,Convergence Nystagmus,UMLS ID:C0521759,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06802,BMG_DS024466,Fatigable Positional Nystagmus,UMLS ID:C0521760,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06803,BMG_DS024467,Non-Fatigable Positional Nystagmus,UMLS ID:C0521761,,,,,,,"Nystagmus, Pathologic",MeSH ID:D009759,,,, +BMGC_DS06804,BMG_DS024482,Congenital atransferrinemia,UMLS ID:C0521802,Congenital atransferrinemia | Congenital atransferrinaemia | Congenital atransferrinemia (disorder),SNOMEDCT ID:111571009,,,atransferrinemia,MONDO:0008846,,MeSH ID:C538259,,,,OMIM ID:209300 +BMGC_DS06805,BMG_DS024514,Primary Exertional Headache,UMLS ID:C0522253,,,,,,,"Headache Disorders, Primary",MeSH ID:D051270,,,, +BMGC_DS06806,BMG_DS024522,,UMLS ID:C0522624,,,,,subcutaneous panniculitis-like T-cell lymphoma,MONDO:0019475,,,,,,OMIM ID:618398 +BMGC_DS06807,BMG_DS024523,,UMLS ID:C0522630,,,,,,,,,acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22),DOID:0081084,, +BMGC_DS06808,BMG_DS024524,,UMLS ID:C0522631,,,,,acute myeloid leukemia with minimal differentiation,MONDO:0005223,,,acute myeloid leukemia with minimal differentiation,DOID:0081085,, +BMGC_DS06809,BMG_DS024526,Pseudoaphakia,UMLS ID:C0524524,,,,,cataract 20 multiple types,MONDO:0007284,Cataract,MeSH ID:D002386,,,,OMIM ID:116100 +BMGC_DS06810,BMG_DS024527,,UMLS ID:C0524528,,,,,pervasive developmental disorder,MONDO:0000594,,,,,, +BMGC_DS06811,BMG_DS024529,Mulibrey Nanism,UMLS ID:C0524582,,,,,mulibrey nanism,MONDO:0009664,Mulibrey Nanism,MeSH ID:D050336,mulibrey nanism,DOID:0050436,,OMIM ID:253250 +BMGC_DS06812,BMG_DS024530,Chronic Alcoholic Hepatitis,UMLS ID:C0524610,,,,,,,"Hepatitis, Alcoholic",MeSH ID:D006519,,,, +BMGC_DS06813,BMG_DS024531,Cryptogenic Chronic Hepatitis,UMLS ID:C0524611,,,,,,,"Hepatitis, Chronic",MeSH ID:D006521,,,, +BMGC_DS06814,BMG_DS024532,Metabolic Syndrome X,UMLS ID:C0524620,,,,,,,Metabolic Syndrome,MeSH ID:D024821,abdominal obesity-metabolic syndrome 1,DOID:14221,, +BMGC_DS06815,BMG_DS024533,Lymphatism,UMLS ID:C0524631,,,,,,,Lymphatic Diseases,MeSH ID:D008206,,,, +BMGC_DS06816,BMG_DS024534,Status Lymphaticus,UMLS ID:C0524632,,,,,,,Lymphatic Diseases,MeSH ID:D008206,,,, +BMGC_DS06817,BMG_DS024535,,UMLS ID:C0524662,,,,,opiate dependence,MONDO:0005530,,,opiate dependence,DOID:2559,, +BMGC_DS06818,BMG_DS024536,Neuropapillitis,UMLS ID:C0524679,,,,,,,Optic Neuritis,MeSH ID:D009902,,,, +BMGC_DS06819,BMG_DS024537,"Periodontitis, Acute Nonsuppurative",UMLS ID:C0524686,,,,,,,Periapical Periodontitis,MeSH ID:D010485,,,, +BMGC_DS06820,BMG_DS024538,Meningeal Plague,UMLS ID:C0524687,,,,,,,Plague,MeSH ID:D010930,,,, +BMGC_DS06821,BMG_DS024539,Pneumonic Plague,UMLS ID:C0524688,,,,,pneumonic plague,MONDO:0001024,Plague,MeSH ID:D010930,pneumonic plague,DOID:10398,, +BMGC_DS06822,BMG_DS024540,Pulmonary Thromboembolisms,UMLS ID:C0524702,,,,,,,Pulmonary Embolism,MeSH ID:D011655,,,, +BMGC_DS06823,BMG_DS024545,"Lung, Hyperlucent",UMLS ID:C0524799,,,,,hyperlucent lung,MONDO:0000925,"Lung, Hyperlucent",MeSH ID:D019568,hyperlucent lung,DOID:10032,, +BMGC_DS06824,BMG_DS024546,,UMLS ID:C0524801,,,,,retina neoplasm,MONDO:0021231,,,retinal cancer,DOID:4645,, +BMGC_DS06825,BMG_DS024547,,UMLS ID:C0524802,,,,,optic nerve neoplasm,MONDO:0002640,,,optic nerve neoplasm,DOID:3419,, +BMGC_DS06826,BMG_DS024548,Intracranial Hypotension,UMLS ID:C0524812,,,,,intracranial hypotension,MONDO:0006811,Intracranial Hypotension,MeSH ID:D019585,intracranial hypotension,DOID:4723,, +BMGC_DS06827,BMG_DS024549,Neurodegenerative Disorders,UMLS ID:C0524851,,,,,,,Neurodegenerative Diseases,MeSH ID:D019636,neurodegenerative disease,DOID:1289,, +BMGC_DS06828,BMG_DS024550,"Hepatitis B, Chronic",UMLS ID:C0524909,,,,,chronic hepatitis B virus infection,MONDO:0005366,"Hepatitis B, Chronic",MeSH ID:D019694,,,, +BMGC_DS06829,BMG_DS024551,"Hepatitis C, Chronic",UMLS ID:C0524910,,,,,chronic hepatitis C virus infection,MONDO:0005354,"Hepatitis C, Chronic",MeSH ID:D019698,,,, +BMGC_DS06830,BMG_DS024553,"Hepatitis, Chronic, Drug-Induced",UMLS ID:C0524912,,,,,,,"Chemical and Drug Induced Liver Injury, Chronic",MeSH ID:D056487,drug-induced hepatitis,DOID:2044,, +BMGC_DS06831,BMG_DS024554,Schnitzler Syndrome,UMLS ID:C0524988,,,,,Schnitzler syndrome,MONDO:0018304,Schnitzler Syndrome,MeSH ID:D019873,Schnitzler syndrome,DOID:4371,, +BMGC_DS06832,BMG_DS024555,,UMLS ID:C0525045,,,,,mood disorder,MONDO:0005371,,,mood disorder,DOID:3324,, +BMGC_DS06833,BMG_DS024558,Stress polycythemia,UMLS ID:C0541719,Spurious polycythaemia | Stress polycythaemia | Stress polycythemia | Spurious polycythemia | Stress polycythemia (disorder) | Stress polycythemia | Emotional polycythemia | Stress polycythaemia | Emotional polycythaemia | Stress polycythemia (disorder),SNOMEDCT ID:191371001 | SNOMEDCT ID:36874002,,,,,,,stress polycythemia,DOID:2838,, +BMGC_DS06834,BMG_DS024559,,UMLS ID:C0541782,,,,,atrial standstill,MONDO:0015281,,,,,, +BMGC_DS06835,BMG_DS024560,,UMLS ID:C0541794,,,,,muscular atrophy,MONDO:0004323,,,,,, +BMGC_DS06836,BMG_DS024561,,UMLS ID:C0541912,,,,,carcinoma of duodenum,MONDO:0021335,,,duodenum cancer,DOID:10021,, +BMGC_DS06837,BMG_DS024565,Non-Q wave myocardial infarction,UMLS ID:C0542269,Non-Q wave myocardial infarction | Non-Q wave myocardial infarction (disorder),SNOMEDCT ID:314207007,,,,,,,,,, +BMGC_DS06838,BMG_DS024573,,UMLS ID:C0542428,,,,,hypochondrogenesis,MONDO:0019669,,,,,, +BMGC_DS06839,BMG_DS024575,,UMLS ID:C0542519,,,,,renal agenesis,MONDO:0018470,,,,,, +BMGC_DS06840,BMG_DS024576,,UMLS ID:C0542564,,,,,cerebral meningioma,MONDO:0003772,,,cerebral meningioma,DOID:6112,, +BMGC_DS06841,BMG_DS024577,Glycogen Storage Disease IXB,UMLS ID:C0543514,,,,,glycogen storage disease IXb,MONDO:0009868,,MeSH ID:C563008,glycogen storage disease IXb,DOID:0111041,,OMIM ID:261750 +BMGC_DS06842,BMG_DS024579,Glycinuria with or without Oxalate Urolithiasis,UMLS ID:C0543541,,,,,hyperglycinuria,MONDO:0007677,,MeSH ID:C563009,,,,OMIM ID:138500 +BMGC_DS06843,BMG_DS024591,Idiopathic Autoimmune Hemolytic Anemia,UMLS ID:C0543663,,,,,,,"Anemia, Hemolytic, Autoimmune",MeSH ID:D000744,,,, +BMGC_DS06844,BMG_DS024596,"Neutrophilia, Hereditary",UMLS ID:C0543669,,,,,hereditary neutrophilia,MONDO:0008092,,MeSH ID:C563010,hereditary neutrophilia,DOID:0090120,,OMIM ID:162830 +BMGC_DS06845,BMG_DS024600,"Klinefelter Syndrome, Variants",UMLS ID:C0543754,,,,,,,Klinefelter Syndrome,MeSH ID:D007713,,,, +BMGC_DS06846,BMG_DS024602,Idiopathic hypercalciuria,UMLS ID:C0543800,,,,,,,,,,,ICD10 ID:R82.994, +BMGC_DS06847,BMG_DS024607,Atherosclerotic occlusive disease,UMLS ID:C0543822,Atherosclerotic ischaemic disease | Atherosclerotic ischemic disease | Atherosclerotic occlusive disease | Atherosclerotic occlusive disease (disorder),SNOMEDCT ID:129573006,,,,,,,,,, +BMGC_DS06848,BMG_DS024609,"Motor Neuron Disease, Secondary",UMLS ID:C0543858,,,,,,,Motor Neuron Disease,MeSH ID:D016472,,,, +BMGC_DS06849,BMG_DS024610,"Amyotrophic Lateral Sclerosis, Guam Form",UMLS ID:C0543859,,,,,amyotrophic lateral sclerosis-parkinsonism-dementia complex,MONDO:0007104,Amyotrophic Lateral Sclerosis,MeSH ID:D000690,amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,DOID:0111246,,OMIM ID:105500 +BMGC_DS06850,BMG_DS024611,"Apraxia, oculomotor, Cogan type",UMLS ID:C0543874,,,,,"ocular motor apraxia, Cogan type",MONDO:0009764,,MeSH ID:C537423,,,,OMIM ID:257550 +BMGC_DS06851,BMG_DS024613,Epileptic encephalopathy,UMLS ID:C0543888,Epileptic encephalopathy (disorder) | Epileptic encephalopathy | EE - epileptic encephalopathy,SNOMEDCT ID:723125008,,,,,,,,,,OMIM ID:MTHU028611 +BMGC_DS06852,BMG_DS024614,,UMLS ID:C0543918,,,,,schizophrenia 10,MONDO:0011552,,,,,,OMIM ID:605419 +BMGC_DS06853,BMG_DS024615,Chandler syndrome,UMLS ID:C0544008,Chandler syndrome (disorder) | Chandler syndrome | Chandler's syndrome (disorder) | Chandler's syndrome | Chandler syndrome,SNOMEDCT ID:392481002 | SNOMEDCT ID:404632009,,,Chandler syndrome,MONDO:0020369,,,Chandler syndrome,DOID:11554,, +BMGC_DS06854,BMG_DS024618,Elephantiasis Nostras Verrucosa,UMLS ID:C0544766,,,,,,,Elephantiasis,MeSH ID:D004604,podoconiosis,DOID:0050138,, +BMGC_DS06855,BMG_DS024621,"Myositis, Proliferative",UMLS ID:C0544796,,,,,,,Myositis,MeSH ID:D009220,,,, +BMGC_DS06856,BMG_DS024629,,UMLS ID:C0544855,,,,,nonsyndromic congenital nail disorder 3,MONDO:0007900,,,,,,OMIM ID:151600 +BMGC_DS06857,BMG_DS024630,,UMLS ID:C0544862,,,,,neurocutaneous melanocytosis,MONDO:0009578,,,,,,OMIM ID:249400 +BMGC_DS06858,BMG_DS024633,Acrokeratoelastoidosis of Costa,UMLS ID:C0545044,,,,,punctate palmoplantar keratoderma type III,MONDO:0007047,,MeSH ID:C535653,punctate palmoplantar keratoderma type III,DOID:0060362,,OMIM ID:101850 +BMGC_DS06859,BMG_DS024634,,UMLS ID:C0545074,,,,,myxoid/round cell liposarcoma,MONDO:0020561,,,mixed-type liposarcoma,DOID:5709,, +BMGC_DS06860,BMG_DS024635,,UMLS ID:C0545080,,,,,composite lymphoma,MONDO:0005710,,,composite lymphoma,DOID:5820,, +BMGC_DS06861,BMG_DS024638,"Nemaline Myopathy, Childhood Onset",UMLS ID:C0546125,,,,,childhood-onset nemaline myopathy,MONDO:0015738,"Myopathies, Nemaline",MeSH ID:D017696,,,, +BMGC_DS06862,BMG_DS024640,Congenital Fiber Type Disproportion,UMLS ID:C0546264,,,,,congenital fiber-type disproportion myopathy,MONDO:0009711,"Myopathies, Structural, Congenital",MeSH ID:D020914,,,, +BMGC_DS06863,BMG_DS024643,Exudative glomerulonephritis,UMLS ID:C0546345,Exudative glomerulonephritis (disorder) | Exudative glomerulonephritis,SNOMEDCT ID:1162266005,,,exudative glomerulonephritis,MONDO:0003133,,,exudative glomerulonephritis,DOID:4777,, +BMGC_DS06864,BMG_DS024651,,UMLS ID:C0546476,,,,,multiple self-healing squamous epithelioma,MONDO:0007566,,,,,,OMIM ID:132800 +BMGC_DS06865,BMG_DS024653,Dermatophytosis of the body,UMLS ID:C0546826,Dermatophytosis of the body | Herpes circinatus | Tinea corporis | (Dermatophytosis of the body) or (herpes circinatus) or (tinea corporis) | (Dermatophytosis of the body) or (herpes circinatus) or (tinea corporis) (disorder) | Dermatophytosis of the body | Dermatophytosis of the body (disorder),SNOMEDCT ID:186994008 | SNOMEDCT ID:266151007,,,,,,,tinea corporis,DOID:12179,, +BMGC_DS06866,BMG_DS024654,,UMLS ID:C0546835,,,,,intrahepatic bile duct cancer,MONDO:0001487,,,intrahepatic gall duct cancer,DOID:12298,, +BMGC_DS06867,BMG_DS024655,,UMLS ID:C0546837,,,,,esophageal cancer,MONDO:0007576,,,,,,OMIM ID:133239 +BMGC_DS06868,BMG_DS024656,Nodding spasm,UMLS ID:C0546878,Nodding spasm | Salaam spasm | Salaam spasm (finding),SNOMEDCT ID:18191000,,,Spasmus nutans,MONDO:0017201,,,,,, +BMGC_DS06869,BMG_DS024664,,UMLS ID:C0546966,,,,,monilethrix,MONDO:0008009,,,monilethrix,DOID:0050472,,OMIM ID:158000 | OMIM ID:252200 +BMGC_DS06870,BMG_DS024665,,UMLS ID:C0546969,,,,,"preauricular fistulae, congenital",MONDO:0007501,,,,,,OMIM ID:128700 +BMGC_DS06871,BMG_DS024673,Cutaneous schistosomiasis,UMLS ID:C0546996,Cutaneous schistosomiasis | Schistosome dermatitis | Clam-digger's itch | Schistosomal cercarial dermatitis | Infection by cercariae of schistosoma | Swamp itch | Swimmers' itch | Swimmer's itch | Cercarial dermatitis | Clam digger's itch | Cutaneous schistosomiasis (disorder) | Infection by cercariae of schistosoma | Infection by cercariae of schistosoma (disorder),SNOMEDCT ID:187115002 | SNOMEDCT ID:86711009,,,cercarial dermatitis,MONDO:0001260,,,cercarial dermatitis,DOID:11302,, +BMGC_DS06872,BMG_DS024674,"Larva Migrans, Cutaneous",UMLS ID:C0546999,,,,,cutaneous larva migrans,MONDO:0018500,Larva Migrans,MeSH ID:D007815,,,, +BMGC_DS06873,BMG_DS024676,,UMLS ID:C0547065,,,,,oligoastrocytoma,MONDO:0016702,,,,,, +BMGC_DS06874,BMG_DS024687,Pseudofolliculitis barbae (disorder),UMLS ID:C0549150,Pseudofolliculitis barbae (disorder) | Pseudofolliculitis barbae | Pseudofolliculitis barbae | Pseudofolliculitis barbae (disorder),SNOMEDCT ID:399205006 | SNOMEDCT ID:201187009 | SNOMEDCT ID:238494006,,,Pseudofolliculitis barbae,MONDO:0012865,,,,,,OMIM ID:612318 +BMGC_DS06875,BMG_DS024689,North Asian Tick Typhus,UMLS ID:C0549160,,,,,Siberian tick typhus,MONDO:0001154,Spotted Fever Group Rickettsiosis,MeSH ID:D000073605,Siberian tick typhus,DOID:10921,, +BMGC_DS06876,BMG_DS024698,Meibomianitis,UMLS ID:C0549398,Meibomianitis | Meibomianitis (disorder) | Meibomianitis | Meibomianitis (disorder) | Meibomitis,SNOMEDCT ID:193914004 | SNOMEDCT ID:309779001,,,,,Meibomitis,MeSH ID:D000092663,,,, +BMGC_DS06877,BMG_DS024700,Obstructive Hydrocephalus,UMLS ID:C0549423,,,,,obstructive hydrocephalus,MONDO:0001896,Hydrocephalus,MeSH ID:D006849,obstructive hydrocephalus,DOID:14159,, +BMGC_DS06878,BMG_DS024701,,UMLS ID:C0549463,,,,,X-linked lymphoproliferative syndrome,MONDO:0010627,,,,,, +BMGC_DS06879,BMG_DS024703,Preglaucoma,UMLS ID:C0549470,Preglaucoma | Preglaucoma (disorder) | Borderline glaucoma | Borderline glaucoma (disorder),SNOMEDCT ID:359633007 | SNOMEDCT ID:47891005,,,,,,,borderline glaucoma,DOID:9283,, +BMGC_DS06880,BMG_DS024704,,UMLS ID:C0549471,,,,,malignant superior sulcus neoplasm,MONDO:0006883,,,Pancoast tumor,DOID:8007,, +BMGC_DS06881,BMG_DS024706,,UMLS ID:C0549473,,,,,thyroid gland carcinoma,MONDO:0015075,,,thyroid gland carcinoma,DOID:3963,, +BMGC_DS06882,BMG_DS024707,Pigmentation Disorders,UMLS ID:C0549567,,,,,obsolete incontinentia pigmenti achromians,MONDO:0006562,Pigmentation Disorders,MeSH ID:D010859,,,, +BMGC_DS06883,BMG_DS024709,,UMLS ID:C0549622,,,,,,,,,sexual dysfunction,DOID:1876,, +BMGC_DS06884,BMG_DS024712,Necrotizing Arteritis,UMLS ID:C0553548,,,,,,,Polyarteritis Nodosa,MeSH ID:D010488,,,, +BMGC_DS06885,BMG_DS024713,Jackknife Seizures,UMLS ID:C0553558,,,,,,,"Spasms, Infantile",MeSH ID:D013036,West syndrome,DOID:0050562,, +BMGC_DS06886,BMG_DS024719,,UMLS ID:C0553580,,,,,Ewing sarcoma,MONDO:0012817,,,Ewing sarcoma,DOID:3369,,OMIM ID:612219 +BMGC_DS06887,BMG_DS024720,Cafe-au-lait macules with pulmonary stenosis,UMLS ID:C0553586,Café-au-lait macules with pulmonary stenosis (disorder) | Café-au-lait macules with pulmonary stenosis | Watson syndrome | Cafe-au-lait macules with pulmonary stenosis,SNOMEDCT ID:403820003,,,Watson syndrome,MONDO:0008672,,,,,,OMIM ID:193520 +BMGC_DS06888,BMG_DS024722,Myotonic Disorders,UMLS ID:C0553604,,,,,myotonic syndrome,MONDO:0016120,Myotonic Disorders,MeSH ID:D020967,myotonic dystrophy type 2 | myotonic disease,DOID:0050759;DOID:450,, +BMGC_DS06889,BMG_DS024726,Peritonsillar cellulitis,UMLS ID:C0553656,Peritonsillar abscess | Quinsy | Angina tonsillaris | Peritonsillar abscess (disorder) | Peritonsillar cellulitis | Peritonsillar cellulitis (disorder) | Acute peritonsillitis,SNOMEDCT ID:15033003 | SNOMEDCT ID:102453009,,,,,,,,,, +BMGC_DS06890,BMG_DS024729,Hypofibrinogenemia,UMLS ID:C0553681,Hypofibrinogenaemia | Hypofibrinogenemia | Hypofibrinogenemia (disorder),SNOMEDCT ID:234457009,,,,,,,,,,OMIM ID:MTHU009690 +BMGC_DS06891,BMG_DS024732,,UMLS ID:C0553707,,,,,,,,,carcinoma,DOID:305,, +BMGC_DS06892,BMG_DS024734,,UMLS ID:C0553723,,,,,skin squamous cell carcinoma,MONDO:0002529,,,skin squamous cell carcinoma,DOID:3151,, +BMGC_DS06893,BMG_DS024735,Calcium pyrophosphate deposition disease,UMLS ID:C0553730,Pseudogout | Idiopathic articular chondrocalcinosis | Chondrocalcinosis due to pyrophosphate crystals | Chondrocalcinosis articularis | Pseudogout (disorder) | CPPD - Calcium pyrophosphate deposition disease | CPDD - Calcium pyrophosphate deposition disease | Calcium pyrophosphate deposition disease | Calcium pyrophosphate deposition disease (disorder),SNOMEDCT ID:60782007 | SNOMEDCT ID:239832006,,,chondrocalcinosis,MONDO:0001314,,,,,, +BMGC_DS06894,BMG_DS024743,Olfaction Disorders,UMLS ID:C0553757,,,,,,,Olfaction Disorders,MeSH ID:D000857,,,, +BMGC_DS06895,BMG_DS024750,Congenital Cerebral Palsy,UMLS ID:C0553767,,,,,,,Cerebral Palsy,MeSH ID:D002547,,,, +BMGC_DS06896,BMG_DS024772,,UMLS ID:C0553980,,,,,endomyocardial fibrosis,MONDO:0006746,,,endomyocardial fibrosis,DOID:12932,, +BMGC_DS06897,BMG_DS024821,"Polymyositis, Idiopathic",UMLS ID:C0554591,,,,,,,Polymyositis,MeSH ID:D017285,polymyositis,DOID:0080745,, +BMGC_DS06898,BMG_DS024827,Synovial plica (disorder),UMLS ID:C0554601,Synovial plica | Synovial plica (disorder),SNOMEDCT ID:268005002,,,synovial plica syndrome,MONDO:0001468,,,,,, +BMGC_DS06899,BMG_DS024834,Group A Streptococcal Infections,UMLS ID:C0554628,,,,,,,Streptococcal Infections,MeSH ID:D013290,,,, +BMGC_DS06900,BMG_DS024837,Anogenital human papillomavirus infection,UMLS ID:C0554632,Anogenital human papilloma virus infection | HPV - Anogenital human papilloma virus infection | WVI - Genital wart virus infection | Genital wart virus infection | Anogenital human papillomavirus infection | Anogenital human papillomavirus infection (disorder),SNOMEDCT ID:302812006,,,anogenital human papillomavirus infection,MONDO:0005647,,,anogenital venereal wart,DOID:11168,, +BMGC_DS06901,BMG_DS024846,,UMLS ID:C0555191,,,,,morpheaform basal cell carcinoma,MONDO:0002949,,,morpheaform basal cell carcinoma,DOID:4292,, +BMGC_DS06902,BMG_DS024848,,UMLS ID:C0555198,,,,,malignant glioma,MONDO:0100342,,,high grade glioma,DOID:3070,, +BMGC_DS06903,BMG_DS024850,,UMLS ID:C0555206,,,,,Chiari malformation type II,MONDO:0008816,,,,,,OMIM ID:207950 +BMGC_DS06904,BMG_DS024851,,UMLS ID:C0555214,,,,,cystic disease of lung,MONDO:0009060,,,,,,OMIM ID:219600 +BMGC_DS06905,BMG_DS024859,Oral infection,UMLS ID:C0555971,Infection mouth | Oral infection | Oral infection (disorder),SNOMEDCT ID:275393007,,,,,,,,,, +BMGC_DS06906,BMG_DS024884,Bacterial gastroenteritis,UMLS ID:C0558348,Specific GIT infectious dis. | Specific gastrointestinal infectious disease | Dysentery | Bacterial gastroenteritis | Gastroenteritis - bact. | Diarrhoea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | Diarrhea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhea]) | Gastroenteritis - bact. | Specific GIT infectious dis. | Specific gastrointestinal infectious disease | Dysentery | Bacterial gastroenteritis | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) | Diarrhea-bact.GIT inf. | Diarrhoea-bact.GIT inf. | (Specific GIT infectious disease) or (dysentery) or (bacterial: [gastroenteritis] or [diarrhoea]) (disorder) | Bacterial gastroenteritis | Bacterial gastroenteritis (disorder),SNOMEDCT ID:266173000 | SNOMEDCT ID:154268000 | SNOMEDCT ID:274080003,,,,,,,,,, +BMGC_DS06907,BMG_DS024901,Uric acid renal calculus,UMLS ID:C0558595,Uric acid renal calculus &/or O/E | Uric acid renal calculus | O/E: uric acid renal calculus | Uric acid renal calculus &/or O/E (finding) | Uric acid renal calculus | Uric acid renal calculus (disorder) | Uric acid nephrolithiasis,SNOMEDCT ID:145274002 | SNOMEDCT ID:270032007 | SNOMEDCT ID:274401005,,,,,,,,,, +BMGC_DS06908,BMG_DS024961,Functional Gastrointestinal Disorders,UMLS ID:C0559031,,,,,,,Gastrointestinal Diseases,MeSH ID:D005767,,,, +BMGC_DS06909,BMG_DS024971,,UMLS ID:C0559185,,,,,adult spinal cord glioblastoma,MONDO:0004363,,,adult spinal cord glioblastoma multiforme,DOID:7806,, +BMGC_DS06910,BMG_DS024992,,UMLS ID:C0559458,,,,,cerebral neuroblastoma,MONDO:0002900,,,cerebral neuroblastoma,DOID:4164,, +BMGC_DS06911,BMG_DS024994,,UMLS ID:C0559460,,,,,adrenal gland neuroblastoma,MONDO:0006076,,,adrenal neuroblastoma,DOID:5718,, +BMGC_DS06912,BMG_DS024995,Allergy to eggs,UMLS ID:C0559469,Allergy to eggs | Allergy to edible egg (finding) | Allergy to edible egg,SNOMEDCT ID:91930004,,,,,,,egg allergy,DOID:4377,, +BMGC_DS06913,BMG_DS024996,Allergy to peanuts,UMLS ID:C0559470,Allergy to peanuts | Allergy to peanut | Allergy to peanut (finding),SNOMEDCT ID:91935009,,,,,,,peanut allergy,DOID:4378,, +BMGC_DS06914,BMG_DS024997,Pentalogy of Cantrell,UMLS ID:C0559483,Pentalogy of Cantrell | Pentalogy of Cantrell (disorder),SNOMEDCT ID:281587000,,,pentalogy of Cantrell,MONDO:0010742,Pentalogy of Cantrell,MeSH ID:D058502,,,,OMIM ID:313850 +BMGC_DS06915,BMG_DS025021,Spinal cord syndrome,UMLS ID:C0560648,Spinal cord syndrome | Spinal cord syndrome (disorder),SNOMEDCT ID:282784007,,,,,,,tethered spinal cord syndrome,DOID:1089,, +BMGC_DS06916,BMG_DS025045,,UMLS ID:C0563211,,,,,anal canal carcinoma,MONDO:0007108,,,anal canal carcinoma,DOID:6126,,OMIM ID:105580 +BMGC_DS06917,BMG_DS025046,Viral gastritis,UMLS ID:C0563238,Viral gastritis | Viral gastritis (disorder),SNOMEDCT ID:285344007,,,viral gastritis,MONDO:0002270,,,viral gastritis,DOID:2327,, +BMGC_DS06918,BMG_DS025047,Acute infective exacerbation of chronic obstructive pulmonary disease,UMLS ID:C0563269,Acute infective exacerbation of chronic obstructive airways disease | Acute infective exacerbation of chronic obstructive pulmonary disease | Acute infective exacerbation of chronic obstructive pulmonary disease (disorder),SNOMEDCT ID:285381006,,,,,,,,,, +BMGC_DS06919,BMG_DS025151,Maternal hypertension,UMLS ID:C0565599,Maternal hypertension | Maternal hypertension (disorder),SNOMEDCT ID:157038006 | SNOMEDCT ID:288250001,,,,,,,,,, +BMGC_DS06920,BMG_DS025163,Primary sclerosing cholangitis,UMLS ID:C0566602,Primary sclerosing cholangitis | PSC - Primary sclerosing cholangitis | Primary sclerosing cholangitis (disorder) | Primary sclerosing cholangitis | Primary sclerosing cholangitis (disorder),SNOMEDCT ID:197441003 | SNOMEDCT ID:4032000,,,primary sclerosing cholangitis,MONDO:0013433,,,primary sclerosing cholangitis,DOID:0060643,ICD10 ID:K83.01,OMIM ID:613806 +BMGC_DS06921,BMG_DS025206,Allergy to ketoprofen,UMLS ID:C0570547,Ketoprofen allergy | Allergy to ketoprofen (finding) | Allergy to ketoprofen,SNOMEDCT ID:293621000,,,,,,,ketoprofen photoallergic dermatitis,DOID:0040060,, +BMGC_DS06922,BMG_DS025751,Benzoic acid allergy,UMLS ID:C0571102,Benzoic acid allergy | Benzoic acid allergy (disorder),SNOMEDCT ID:294186000,,,,,,,benzoic acid allergic contact dermatitis,DOID:0040057,, +BMGC_DS06923,BMG_DS025980,Allergy to formaldehyde,UMLS ID:C0571339,Formaldehyde allergy | Allergy to formaldehyde | Allergy to formaldehyde (finding),SNOMEDCT ID:294426006,,,,,,,formaldehyde allergic contact dermatitis,DOID:0040074,, +BMGC_DS06924,BMG_DS026054,,UMLS ID:C0571444,,,,,,,,,cephalosporin allergy,DOID:0040021,, +BMGC_DS06925,BMG_DS026063,Allergy to cefaclor,UMLS ID:C0571453,Cefaclor allergy | Allergy to cefaclor (finding) | Allergy to cefaclor,SNOMEDCT ID:294541008,,,,,,,cefaclor allergy,DOID:0040023,, +BMGC_DS06926,BMG_DS026064,Allergy to cefuroxime,UMLS ID:C0571454,Cefuroxime allergy | Allergy to cefuroxime (finding) | Allergy to cefuroxime,SNOMEDCT ID:294542001,,,,,,,cefuroxime allergy,DOID:0040025,, +BMGC_DS06927,BMG_DS026067,Allergy to cefotaxime,UMLS ID:C0571457,Cefotaxime allergy | Allergy to cefotaxime (finding) | Allergy to cefotaxime,SNOMEDCT ID:294545004,,,,,,,cefotaxime allergy,DOID:0040020,, +BMGC_DS06928,BMG_DS026068,Allergy to ceftazidime,UMLS ID:C0571458,Ceftazidime allergy | Allergy to ceftazidime (finding) | Allergy to ceftazidime,SNOMEDCT ID:294546003,,,,,,,ceftazidime allergy,DOID:0040024,, +BMGC_DS06929,BMG_DS026070,Allergy to cefixime,UMLS ID:C0571460,Cefixime allergy | Allergy to cefixime | Allergy to cefixime (finding),SNOMEDCT ID:294548002,,,,,,,cefixime allergy,DOID:0040030,, +BMGC_DS06930,BMG_DS026073,Allergy to ceftriaxone,UMLS ID:C0571463,Ceftriaxone allergy | Allergy to ceftriaxone | Allergy to ceftriaxone (finding),SNOMEDCT ID:294551009,,,,,,,ceftriaxone allergy,DOID:0040005,, +BMGC_DS06931,BMG_DS026621,Guanidinoacetate methyltransferase deficiency,UMLS ID:C0574080,Deficiency of guanidinoacetate methyltransferase | Guanidinoacetate methyltransferase deficiency | Deficiency of guanidinoacetate methyltransferase (disorder),SNOMEDCT ID:124239003,,,guanidinoacetate methyltransferase deficiency,MONDO:0012999,,MeSH ID:C537622,guanidinoacetate methyltransferase deficiency,DOID:0050799,,OMIM ID:612736 +BMGC_DS06932,BMG_DS026622,3-Methylglutaconic aciduria type 2,UMLS ID:C0574083,3-Methylglutaconic aciduria type 2 | Barth syndrome | 3-Methylglutaconic aciduria type 2 (disorder),SNOMEDCT ID:297231002,,,Barth syndrome,MONDO:0010543,,,Barth syndrome,DOID:0050476,,OMIM ID:302060 +BMGC_DS06933,BMG_DS026623,3-Methylglutaconic aciduria type 3,UMLS ID:C0574084,Costeff syndrome | 3-Methylglutaconic aciduria type 3 | 3-Methylglutaconic aciduria type 3 (disorder),SNOMEDCT ID:297232009,,,3-methylglutaconic aciduria type 3,MONDO:0009787,,,,,,OMIM ID:258501 +BMGC_DS06934,BMG_DS026625,Generalized uridine diphosphate galactose-4-epimerase deficiency,UMLS ID:C0574089,Generalized uridine diphosphate galactose-4-epimerase deficiency | Generalised uridine diphosphate galactose-4-epimerase deficiency | Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder),SNOMEDCT ID:297237003,,,generalized galactose epimerase deficiency,MONDO:0017692,,,,,, +BMGC_DS06935,BMG_DS026626,Erythrocyte uridine diphosphate galactose-4-epimerase deficiency,UMLS ID:C0574090,Erythrocyte uridine diphosphate galactose-4-epimerase deficiency | Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder),SNOMEDCT ID:297238008,,,erythrocyte galactose epimerase deficiency,MONDO:0017691,,,,,, +BMGC_DS06936,BMG_DS026631,Glycerol kinase deficiency - isolated,UMLS ID:C0574108,Glycerol kinase deficiency - isolated | Glycerol kinase deficiency - isolated (disorder),SNOMEDCT ID:297256008,,,isolated glycerol kinase deficiency,MONDO:0018459,,,glycerol kinase deficiency,DOID:0060363,, +BMGC_DS06937,BMG_DS026647,"Lesion, Superficial Radial Nerve",UMLS ID:C0574908,,,,,,,Radial Neuropathy,MeSH ID:D020425,,,, +BMGC_DS06938,BMG_DS026657,Sacroiliitis,UMLS ID:C0574960,Sacroiliitis | Inflammation of sacroiliac joint | Sacroiliac joint inflamed | Inflammation of sacroiliac joint (finding) | Sacroiliitis | Sacroiliitis (disorder),SNOMEDCT ID:55146009 | SNOMEDCT ID:274136001 | SNOMEDCT ID:156620004,,,,,Sacroiliitis,MeSH ID:D058566,,,,OMIM ID:MTHU021208 +BMGC_DS06939,BMG_DS026660,Spastic tetraparesis,UMLS ID:C0575059,Spastic quadriparesis (disorder) | Spastic quadriparesis | Spastic tetraparesis,SNOMEDCT ID:298282001,,,,,,,,,,OMIM ID:MTHU004059 +BMGC_DS06940,BMG_DS026666,,UMLS ID:C0575897,,,,,thumb deformity,MONDO:0008561,,,,,,OMIM ID:188100 +BMGC_DS06941,BMG_DS026673,Nut Hypersensitivity,UMLS ID:C0577620,,,,,obsolete nut allergic reaction,MONDO:0006872,Nut Hypersensitivity,MeSH ID:D021184,nut allergy,DOID:4379,, +BMGC_DS06942,BMG_DS026679,,UMLS ID:C0577628,,,,,latex allergy,MONDO:0000807,,,,,, +BMGC_DS06943,BMG_DS026682,Carotid Atherosclerosis,UMLS ID:C0577631,,,,,,,Carotid Artery Diseases,MeSH ID:D002340,,,, +BMGC_DS06944,BMG_DS026693,Proteus septicemia,UMLS ID:C0577690,Proteus septicemia | Proteus septicaemia | Proteus septicemia (disorder),SNOMEDCT ID:300986008,,,,,,,,,, +BMGC_DS06945,BMG_DS026694,,UMLS ID:C0577692,,,,,ureter transitional cell carcinoma,MONDO:0004030,,,ureter transitional cell carcinoma,DOID:6888,, +BMGC_DS06946,BMG_DS026698,Urinary tract infection caused by Escherichia coli,UMLS ID:C0577708,Escherichia coli urinary tract infection | Urinary tract infection caused by Escherichia coli | Urinary tract infection caused by Escherichia coli (disorder),SNOMEDCT ID:301011002,,,,,,,,,, +BMGC_DS06947,BMG_DS026699,Proteus urinary tract infection,UMLS ID:C0577709,Proteus urinary tract infection | Proteus urinary tract infection (disorder) | Proteus UTI (urinary tract infection),SNOMEDCT ID:301012009,,,,,,,,,, +BMGC_DS06948,BMG_DS026730,Gonococcal seminal vesiculitis,UMLS ID:C0578661,Gonococcal seminal vesiculitis | Gonococcal seminal vesiculitis (disorder),SNOMEDCT ID:301990003,,,gonococcal seminal vesiculitis,MONDO:0001027,,,gonococcal seminal vesiculitis | seminal vesicle acute gonorrhea,DOID:10400;DOID:0050004,, +BMGC_DS06949,BMG_DS026738,Chronic Spontaneous Urticaria,UMLS ID:C0578870,,,,,chronic idiopathic urticaria,MONDO:0044212,Chronic Urticaria,MeSH ID:D000080223,chronic urticaria,DOID:0080747,, +BMGC_DS06950,BMG_DS026743,Inflammation of large intestine,UMLS ID:C0578878,Inflammation of large intestine | Inflammation of large intestine (disorder),SNOMEDCT ID:302168000,,,,,,,,,, +BMGC_DS06951,BMG_DS026784,Recurrent sinusitis,UMLS ID:C0581354,Recurrent sinusitis | Recurrent sinusitis (disorder),SNOMEDCT ID:195788001,,,,,,,,,,OMIM ID:MTHU008465 +BMGC_DS06952,BMG_DS026802,Decompensated cardiac failure,UMLS ID:C0581377,Decompensated cardiac failure | Decompensated cardiac failure (disorder),SNOMEDCT ID:195111005,,,,,,,,,, +BMGC_DS06953,BMG_DS026804,Recurrent upper respiratory tract infection,UMLS ID:C0581381,Recurrent upper respiratory tract infection | Recurrent upper respiratory tract infection (disorder),SNOMEDCT ID:195708003,,,,,,,,,, +BMGC_DS06954,BMG_DS026808,Exacerbation of multiple sclerosis,UMLS ID:C0581392,Exacerbation of multiple sclerosis | Exacerbation of multiple sclerosis (disorder) | Multiple sclerosis (MS) exacerbation,SNOMEDCT ID:192929006,,,,,,,,,, +BMGC_DS06955,BMG_DS026809,Complete Hearing Loss,UMLS ID:C0581883,,,,,,,Deafness,MeSH ID:D003638,,,, +BMGC_DS06956,BMG_DS026860,,UMLS ID:C0585129,,,,,retroperitoneal sarcoma,MONDO:0001501,,,retroperitoneal sarcoma,DOID:12341,, +BMGC_DS06957,BMG_DS026863,Gastric retention,UMLS ID:C0585136,Gastric retention | Gastric retention (disorder),SNOMEDCT ID:307227006,,,,,,,,,, +BMGC_DS06958,BMG_DS026874,,UMLS ID:C0585216,,,,,alpha-thalassemia-myelodysplastic syndrome,MONDO:0010328,,,alpha-thalassemia myelodysplasia syndrome,DOID:0112125,,OMIM ID:300448 +BMGC_DS06959,BMG_DS026885,Hypoglossal Nerve Palsy,UMLS ID:C0585265,,,,,,,Hypoglossal Nerve Diseases,MeSH ID:D020437,,,, +BMGC_DS06960,BMG_DS026889,,UMLS ID:C0585362,,,,,oral cavity squamous cell carcinoma,MONDO:0004958,,,,,, +BMGC_DS06961,BMG_DS026894,,UMLS ID:C0585442,,,,,bone osteosarcoma,MONDO:0002629,,,bone osteosarcoma,DOID:3376,,OMIM ID:259500 +BMGC_DS06962,BMG_DS026895,,UMLS ID:C0585474,,,,,Ewing sarcoma of bone,MONDO:0002625,,,Ewing sarcoma of bone,DOID:3368,, +BMGC_DS06963,BMG_DS026896,,UMLS ID:C0585475,,,,,skin pilomatrix carcinoma,MONDO:0003414,,,skin pilomatrix carcinoma,DOID:5376,, +BMGC_DS06964,BMG_DS026917,,UMLS ID:C0585946,,,,,,,,,epiglottis cancer,DOID:8133,, +BMGC_DS06965,BMG_DS026926,Alcohol Withdrawal Seizures,UMLS ID:C0586323,,,,,,,Alcohol Withdrawal Seizures,MeSH ID:D020270,,,, +BMGC_DS06966,BMG_DS026958,Varicella Zoster Virus Infection,UMLS ID:C0586989,,,,,varicella zoster infection,MONDO:0005608,Varicella Zoster Virus Infection,MeSH ID:D000073618,,,, +BMGC_DS06967,BMG_DS026972,Costello syndrome (disorder),UMLS ID:C0587248,Costello syndrome | Costello syndrome (disorder),SNOMEDCT ID:205803001 | SNOMEDCT ID:309776008,,,Costello syndrome,MONDO:0009026,,,Costello syndrome,DOID:0050469,,OMIM ID:218040 +BMGC_DS06968,BMG_DS026975,,UMLS ID:C0588125,,,,,"tenosynovial giant cell tumor, localized type",MONDO:0002399,,,nodular tenosynovitis,DOID:2701,, +BMGC_DS06969,BMG_DS026982,Septicemia due to enterococcus,UMLS ID:C0588233,Septicemia due to enterococcus | Septicaemia due to enterococcus | Septicaemia due to enterococcus (disorder) | Septicaemia due to enterococcus | Septicemia due to enterococcus | Sepsis due to enterococcus | Septicemia caused by enterococcus | Septicemia caused by enterococcus (disorder) | Sepsis caused by enterococcus | Septicaemia caused by enterococcus,SNOMEDCT ID:186383002 | SNOMEDCT ID:310669007,,,,,,,,,, +BMGC_DS06970,BMG_DS027011,Atypical absence seizure,UMLS ID:C0595948,Atypical absence seizure | Atypical absence seizure (finding),SNOMEDCT ID:23374007,,,,,,,,,, +BMGC_DS06971,BMG_DS027020,,UMLS ID:C0595989,,,,,laryngeal carcinoma,MONDO:0002358,,,laryngeal carcinoma,DOID:2600,, +BMGC_DS06972,BMG_DS027022,,UMLS ID:C0595995,,,,,idiopathic scoliosis,MONDO:0000726,,,,,, +BMGC_DS06973,BMG_DS027024,,UMLS ID:C0596046,,,,,adrenal medulla neoplasm,MONDO:0021237,,,adrenal medulla cancer,DOID:5719,, +BMGC_DS06974,BMG_DS027025,,UMLS ID:C0596170,,,,,binge eating disorder,MONDO:0005582,,,,,, +BMGC_DS06975,BMG_DS027027,Cerebrovascular Occlusion,UMLS ID:C0596298,,,,,,,Cerebrovascular Disorders,MeSH ID:D002561,,,, +BMGC_DS06976,BMG_DS027030,,UMLS ID:C0596869,,,,,lymph node neoplasm,MONDO:0024339,,,lymph node cancer,DOID:10619,, +BMGC_DS06977,BMG_DS027036,Hereditary protein C deficiency,UMLS ID:C0598221,Hereditary protein C deficiency (disorder) | Hereditary protein C deficiency,SNOMEDCT ID:439274008,,,hereditary thrombophilia due to congenital protein C deficiency,MONDO:0019145,,,,,, +BMGC_DS06978,BMG_DS027037,Harlequin type ichthyosis,UMLS ID:C0598226,,,,,autosomal recessive congenital ichthyosis 4B,MONDO:0009443,,MeSH ID:C538424,,,,OMIM ID:242500 +BMGC_DS06979,BMG_DS027039,Hyperhomocysteinemia,UMLS ID:C0598608,Hyperhomocysteinemia (disorder) | Hyperhomocysteinemia,SNOMEDCT ID:419503008,,,hyperhomocysteinemia,MONDO:0004743,Hyperhomocysteinemia,MeSH ID:D020138,hyperhomocysteinemia,DOID:9279,,OMIM ID:MTHU070462 | OMIM ID:603174 +BMGC_DS06980,BMG_DS027041,,UMLS ID:C0598790,,,,,lung sarcoma,MONDO:0002426,,,lung sarcoma,DOID:2784,, +BMGC_DS06981,BMG_DS027042,,UMLS ID:C0598798,,,,,lymphoid neoplasm,MONDO:0005157,,,lymphoma,DOID:0060058,, +BMGC_DS06982,BMG_DS027044,Hyperornithinemia,UMLS ID:C0599035,Hyperornithinemia | Hyperornithinaemia | Hyperornithinemia (disorder),SNOMEDCT ID:33985005,,,,,,,,,,OMIM ID:MTHU023295 +BMGC_DS06983,BMG_DS027047,,UMLS ID:C0599973,,,,,microphthalmia with limb anomalies,MONDO:0008800,,,,,,OMIM ID:206920 +BMGC_DS06984,BMG_DS027048,Chronic interstitial cystitis,UMLS ID:C0600040,Chronic interstitial cystitis | Chronic interstitial cystitis (disorder) | Chronic interstitial cystitis | IC - Interstitial cystitis | Interstitial cystitis | Chronic interstitial cystitis (disorder) | PBS - Painful bladder syndrome | Painful bladder syndrome,SNOMEDCT ID:44497007 | SNOMEDCT ID:197834003,,,,,,,chronic interstitial cystitis,DOID:1678,, +BMGC_DS06985,BMG_DS027049,Infective cystitis,UMLS ID:C0600041,Infective cystitis | Infection of bladder | Infective cystitis (disorder),SNOMEDCT ID:236620008,,,,,,,,,, +BMGC_DS06986,BMG_DS027051,,UMLS ID:C0600066,,,,,malignant phyllodes tumor,MONDO:0037003,,,breast malignant phyllodes tumor,DOID:3016,, +BMGC_DS06987,BMG_DS027052,,UMLS ID:C0600079,,,,,ureter carcinoma,MONDO:0006481,,,ureter carcinoma,DOID:4939,, +BMGC_DS06988,BMG_DS027057,,UMLS ID:C0600139,,,,,prostate carcinoma,MONDO:0005159,,,prostate carcinoma,DOID:10286,, +BMGC_DS06989,BMG_DS027058,External Carotid Artery Diseases,UMLS ID:C0600178,,,,,,,Carotid Artery Diseases,MeSH ID:D002340,,,, +BMGC_DS06990,BMG_DS027059,,UMLS ID:C0600228,,,,,,,,,cardiac arrest,DOID:0060319,, +BMGC_DS06991,BMG_DS027060,"Lung Diseases, Obstructive",UMLS ID:C0600260,,,,,,,"Lung Diseases, Obstructive",MeSH ID:D008173,obstructive lung disease,DOID:2320,, +BMGC_DS06992,BMG_DS027063,Periodontosis,UMLS ID:C0600298,,,Periodontosis,ICD11 ID:DA0C.2,,,Aggressive Periodontitis,MeSH ID:D010520,periodontosis,DOID:9893,ICD10 ID:K05.4, +BMGC_DS06993,BMG_DS027064,Toxic Shock Syndrome,UMLS ID:C0600327,,,,,toxic shock syndrome,MONDO:0001881,"Shock, Septic",MeSH ID:D012772,toxic shock syndrome,DOID:14115,, +BMGC_DS06994,BMG_DS027065,Subcorneal pustular dermatosis,UMLS ID:C0600336,Subcorneal pustular dermatosis | Sneddon-Wilkinson disease | Sneddon-Wilkinson syndrome | Subcorneal pustular dermatosis (disorder),SNOMEDCT ID:25147002,,,subcorneal pustular dermatosis,MONDO:0006614,,,subcorneal pustular dermatosis,DOID:8508,, +BMGC_DS06995,BMG_DS027066,Arteriosclerotic Dementia,UMLS ID:C0600359,,,,,,,"Dementia, Vascular",MeSH ID:D015140,,,, +BMGC_DS06996,BMG_DS027067,,UMLS ID:C0600427,,,,,cocaine dependence,MONDO:0005186,,,cocaine dependence,DOID:9975,, +BMGC_DS06997,BMG_DS027068,Activated Protein C Resistance,UMLS ID:C0600433,,,,,,,Activated Protein C Resistance,MeSH ID:D020016,,,, +BMGC_DS06998,BMG_DS027069,Hepatopulmonary Syndrome,UMLS ID:C0600452,,,,,hepatopulmonary syndrome,MONDO:0004694,Hepatopulmonary Syndrome,MeSH ID:D020065,hepatopulmonary syndrome,DOID:900,, +BMGC_DS06999,BMG_DS027070,Vascular Hemostatic Disorders,UMLS ID:C0600502,,,,,vascular hemostatic disease,MONDO:0003159,Hemostatic Disorders,MeSH ID:D020141,vascular hemostatic disease,DOID:484,, +BMGC_DS07000,BMG_DS027072,,UMLS ID:C0600518,,,,,choroidal neovascularization,MONDO:0810000,,,,,, +BMGC_DS07001,BMG_DS027074,,UMLS ID:C0677055,,,,,vulvar carcinoma,MONDO:0005215,,,vulva carcinoma,DOID:1294,, +BMGC_DS07002,BMG_DS027076,Radial Tunnel Syndrome,UMLS ID:C0677499,,,,,,,Radial Neuropathy,MeSH ID:D020425,,,, +BMGC_DS07003,BMG_DS027077,Congenital Nephrogenic Diabetes Insipidus,UMLS ID:C0677501,,,,,,,"Diabetes Insipidus, Nephrogenic",MeSH ID:D018500,,,, +BMGC_DS07004,BMG_DS027079,Hashimoto Disease,UMLS ID:C0677607,,,,,Hashimoto thyroiditis,MONDO:0007699,Hashimoto Disease,MeSH ID:D050031,,,,OMIM ID:140300 +BMGC_DS07005,BMG_DS027081,Gastro-esophageal reflux disease with esophagitis,UMLS ID:C0677659,Reflux esophagitis | Esophageal reflux with esophagitis | Gastro-esophageal reflux disease with esophagitis | Gastro-oesophageal reflux disease with oesophagitis | Oesophageal reflux with oesophagitis | Reflux oesophagitis | Gastroesophageal reflux disease with esophagitis (disorder) | Gastroesophageal reflux disease with esophagitis | Gastroesophageal reflux disease with oesophagitis | Peptic esophagitis | Peptic oesophagitis,SNOMEDCT ID:266433003,"Gastrooesophageal reflux disease, unspecified",ICD11 ID:DA22.Z,,,,,,,ICD10 ID:K21.0, +BMGC_DS07006,BMG_DS027082,,UMLS ID:C0677776,,,,,hereditary breast ovarian cancer syndrome,MONDO:0003582,,,hereditary breast ovarian cancer syndrome,DOID:5683,, +BMGC_DS07007,BMG_DS027083,,UMLS ID:C0677779,,,,,hereditary Wilms tumor,MONDO:0003321,,,hereditary Wilms' tumor,DOID:5183,, +BMGC_DS07008,BMG_DS027084,,UMLS ID:C0677865,,,,,brain stem glioma,MONDO:0002911,,,brain stem glioma,DOID:4202,, +BMGC_DS07009,BMG_DS027085,,UMLS ID:C0677866,,,,,brainstem neoplasm,MONDO:0021228,,,brain stem cancer,DOID:4203,, +BMGC_DS07010,BMG_DS027086,,UMLS ID:C0677886,,,,,,,,,ovarian carcinoma,DOID:4001,, +BMGC_DS07011,BMG_DS027091,"Hyperlipidemia, group A",UMLS ID:C0678189,"Hyperlipidemia, group A | Hyperlipidaemia, group A | Hyperlipidemia, group A (disorder)",SNOMEDCT ID:190774002,,,,,,,,,, +BMGC_DS07012,BMG_DS027092,Terminal Ileitis,UMLS ID:C0678201,,,,,,,Crohn Disease,MeSH ID:D003424,,,, +BMGC_DS07013,BMG_DS027093,Regional enteritis,UMLS ID:C0678202,Regional enteritis | Regional enteritis (disorder) | Regional enteritis - Crohn | Enteritis - regional | Regional enteritis | Crohn's disease | Crohn's regional enteritis | Crohn's disease (& [regional enteritis]) | Crohn's disease (& [regional enteritis]) (disorder) | Crohn's regional enteritis | Enteritis - regional | Regional enteritis - Crohn | Crohn's disease | Regional enteritis | Crohn's disease (& [regional enteritis]) | Crohn's disease (& [regional enteritis]) (disorder),SNOMEDCT ID:278522007 | SNOMEDCT ID:266517004 | SNOMEDCT ID:155760003,,,,,,,,,,OMIM ID:MTHU054371 +BMGC_DS07014,BMG_DS027094,,UMLS ID:C0678213,,,,,complete hydatidiform mole,MONDO:0016785,,,,,, +BMGC_DS07015,BMG_DS027095,,UMLS ID:C0678222,,,,,breast carcinoma,MONDO:0004989,,,breast carcinoma,DOID:3459,, +BMGC_DS07016,BMG_DS027099,"Tuberculosis, Extrapulmonary",UMLS ID:C0679362,,,,,extrapulmonary tuberculosis,MONDO:0000368,"Tuberculosis, Extrapulmonary",MeSH ID:D000092225,,,, +BMGC_DS07017,BMG_DS027104,,UMLS ID:C0683416,,,,,depersonalization disorder,MONDO:0001186,,,depersonalization disorder,DOID:11038,, +BMGC_DS07018,BMG_DS027105,,UMLS ID:C0684249,,,,,lung carcinoma,MONDO:0005138,,,lung carcinoma,DOID:3905,, +BMGC_DS07019,BMG_DS027106,Bacterial sepsis,UMLS ID:C0684256,Bacterial septicemia | Bacterial sepsis | Bacterial septicaemia | Bacterial sepsis (disorder),SNOMEDCT ID:10001005,,,,,,,,,, +BMGC_DS07020,BMG_DS027107,"Hemophilia, NOS",UMLS ID:C0684275,Hemophilia | Haemophilia | Hemophilia (disorder),SNOMEDCT ID:90935002,,,hemophilia,MONDO:0018660,,,,,, +BMGC_DS07021,BMG_DS027109,,UMLS ID:C0684333,,,,,,,,,tongue cancer,DOID:8649,, +BMGC_DS07022,BMG_DS027110,,UMLS ID:C0684337,,,,,peripheral primitive neuroectodermal tumor,MONDO:0018271,,,Ewing sarcoma,DOID:3369,, +BMGC_DS07023,BMG_DS027118,,UMLS ID:C0684743,,,,,muscle cancer,MONDO:0005864,,,muscle cancer,DOID:4045,, +BMGC_DS07024,BMG_DS027148,,UMLS ID:C0685200,,,,,hemangioma of subcutaneous tissue,MONDO:0006557,,,hemangioma of subcutaneous tissue,DOID:13081,, +BMGC_DS07025,BMG_DS027149,,UMLS ID:C0685201,,,,,splenic hemangioma,MONDO:0002343,,,hemangioma of spleen,DOID:256,, +BMGC_DS07026,BMG_DS027163,,UMLS ID:C0685787,,,,,facial cleft,MONDO:0015411,,,,,, +BMGC_DS07027,BMG_DS027164,,UMLS ID:C0685837,,,,,46 XX gonadal dysgenesis,MONDO:0009299,,,,,, +BMGC_DS07028,BMG_DS027165,Gonadal dysgenesis XX type deafness,UMLS ID:C0685838,,,,,Perrault syndrome,MONDO:0017312,,MeSH ID:C537286,,,, +BMGC_DS07029,BMG_DS027166,,UMLS ID:C0685889,,,,,familial isolated congenital asplenia,MONDO:0010066,,,,,,OMIM ID:271400 +BMGC_DS07030,BMG_DS027194,,UMLS ID:C0685938,,,,,,,,,gastrointestinal system cancer,DOID:3119,, +BMGC_DS07031,BMG_DS027206,Tardive Dyskinesia,UMLS ID:C0686347,,,,,tardive dyskinesia,MONDO:0010096,Tardive Dyskinesia,MeSH ID:D000071057,,,,OMIM ID:272620 +BMGC_DS07032,BMG_DS027211,"Muscular Dystrophies, Limb-Girdle",UMLS ID:C0686353,,,,,limb-girdle muscular dystrophy,MONDO:0016971,"Muscular Dystrophies, Limb-Girdle",MeSH ID:D049288,limb-girdle muscular dystrophy,DOID:11724,, +BMGC_DS07033,BMG_DS027221,Marginal blepharitis,UMLS ID:C0686366,Blepharitis | Blepharitis (disorder) | Inflammation of lid margin | Marginal blepharitis | Marginal blepharitis | Ciliary blepharitis | Marginal blepharitis (disorder),SNOMEDCT ID:41446000 | SNOMEDCT ID:92819001,,,,,,,,,, +BMGC_DS07034,BMG_DS027230,,UMLS ID:C0686417,,,,,oculomotor nerve cancer,MONDO:0002434,,,malignant oculomotor nerve tumor,DOID:2816,, +BMGC_DS07035,BMG_DS027253,Nephronophthisis,UMLS ID:C0687120,Nephronophthisis | Familial juvenile medullary cystic kidney disease | Autosomal recessive medullary cystic disease | Nephronophthisis (disorder) | Familial juvenile nephronophthisis,SNOMEDCT ID:204958008,Autosomal dominant tubulointerstitial disease,ICD11 ID:GB82,nephronophthisis,MONDO:0019005,,,nephronophthisis,DOID:12712,ICD10 ID:Q61.5,OMIM ID:MTHU000621 +BMGC_DS07036,BMG_DS027254,,UMLS ID:C0687140,,,,,skin hemangioma,MONDO:0003110,,,skin hemangioma,DOID:471,, +BMGC_DS07037,BMG_DS027255,Mineral deficiency,UMLS ID:C0687148,Mineral deficiency | Mineral deficiency (disorder),SNOMEDCT ID:367101009 | SNOMEDCT ID:111379007,,,,,,,,,, +BMGC_DS07038,BMG_DS027256,,UMLS ID:C0687150,,,,,parathyroid gland carcinoma,MONDO:0012004,,,parathyroid carcinoma,DOID:1540,,OMIM ID:608266 +BMGC_DS07039,BMG_DS027257,Acrocephalopolysyndactyly,UMLS ID:C0687154,(Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome) | Acrocephalosyndactyly | Acrocephalopolysyndactyly | Apert's syndrome | (Acrocephalo (& [poly]) syndactyly) or (Apert's syndrome) (disorder) | Acrocephalopolysyndactyly | Acrocephalopolysyndactyly (disorder),SNOMEDCT ID:205257004 | SNOMEDCT ID:205260006,"Multiple developmental anomalies or syndromes, unspecified",ICD11 ID:LD2Z,acrocephalopolysyndactyly,MONDO:0000078,,,Warburg micro syndrome 3 | Warburg micro syndrome 1 | Warburg micro syndrome 2 | Warburg micro syndrome 4,DOID:0110716;DOID:0110719;DOID:0110718;DOID:0110717,ICD10 ID:Q87.0, +BMGC_DS07040,BMG_DS027259,Central Diabetes Insipidus,UMLS ID:C0687720,,,,,central diabetes insipidus,MONDO:0015790,"Diabetes Insipidus, Neurogenic",MeSH ID:D020790,neurohypophyseal diabetes insipidus,DOID:12388,, +BMGC_DS07041,BMG_DS027260,Acanthocytosis,UMLS ID:C0687751,Spiny prickle cells present | Acanthocytosis | Acanthocytosis (finding) | Abetalipoproteinemia | Abetalipoproteinaemia | Abetalipoproteinemia (disorder),SNOMEDCT ID:250249008 | SNOMEDCT ID:83123000,,,,,,,,,,OMIM ID:MTHU014873 +BMGC_DS07042,BMG_DS027288,Community-Acquired Pneumonia,UMLS ID:C0694549,,,,,,,Community-Acquired Pneumonia,MeSH ID:D000098968,,,, +BMGC_DS07043,BMG_DS027291,Disseminated atypical mycobacterial infection,UMLS ID:C0694566,Disseminated atypical mycobacterial infection | Disseminated atypical mycobacterial infection (disorder),SNOMEDCT ID:240413000,,,,,,,,,, +BMGC_DS07044,BMG_DS027292,Neurogenic Bowel,UMLS ID:C0695242,,,,,neurogenic bowel,MONDO:0006868,Neurogenic Bowel,MeSH ID:D055496,neurogenic bowel,DOID:13419,, +BMGC_DS07045,BMG_DS027293,Hereditary Chorea,UMLS ID:C0699731,,,,,,,Chorea,MeSH ID:D002819,,,, +BMGC_DS07046,BMG_DS027295,"Sensory Neuropathy, Hereditary",UMLS ID:C0699739,,,,,,,Hereditary Sensory and Autonomic Neuropathies,MeSH ID:D009477,hereditary sensory neuropathy | sensory peripheral neuropathy,DOID:0050548;DOID:2491,, +BMGC_DS07047,BMG_DS027296,Benign congenital myopathy,UMLS ID:C0699741,Benign congenital myopathy | Benign congenital myopathy (disorder) | Congenital hereditary muscular dystrophy | Congenital hereditary muscular dystrophy (disorder),SNOMEDCT ID:193222002 | SNOMEDCT ID:111501005,,,,,,,Becker muscular dystrophy,DOID:9883,, +BMGC_DS07048,BMG_DS027297,Congenital muscular dystrophy (disorder),UMLS ID:C0699743,Congenital muscular dystrophy | Congenital muscular dystrophy (disorder),SNOMEDCT ID:240059009,,,congenital muscular dystrophy,MONDO:0019950,,,,,, +BMGC_DS07049,BMG_DS027298,Infection of ear,UMLS ID:C0699744,Ear infection | Infection of ear | Infection of ear (disorder),SNOMEDCT ID:129127001,,,ear infection,MONDO:0021666,,,,,, +BMGC_DS07050,BMG_DS027299,,UMLS ID:C0699790,,,,,colon carcinoma,MONDO:0002032,,,colon carcinoma,DOID:1520,, +BMGC_DS07051,BMG_DS027300,,UMLS ID:C0699791,,,,,gastric carcinoma,MONDO:0004950,,,stomach carcinoma,DOID:5517,, +BMGC_DS07052,BMG_DS027301,,UMLS ID:C0699828,,,,,serotonin syndrome,MONDO:0018546,,,,,, +BMGC_DS07053,BMG_DS027304,,UMLS ID:C0699885,,,,,urinary bladder carcinoma,MONDO:0004986,,,bladder carcinoma,DOID:4007,, +BMGC_DS07054,BMG_DS027305,,UMLS ID:C0699889,,,,,female reproductive organ cancer,MONDO:0001416,,,female reproductive organ cancer,DOID:120,, +BMGC_DS07055,BMG_DS027307,,UMLS ID:C0699893,,,,,skin carcinoma,MONDO:0002656,,,skin carcinoma,DOID:3451,, +BMGC_DS07056,BMG_DS027309,Idiopathic hypertrophic subaortic stenosis,UMLS ID:C0700053,Idiopathic hypertrophic subaortic stenosis | Idiopathic hypertrophic subaortic stenosis (disorder),SNOMEDCT ID:83497002 | SNOMEDCT ID:360465008,,,,,,,,,, +BMGC_DS07057,BMG_DS027311,,UMLS ID:C0700101,,,,,,,,,urethra cancer,DOID:734,, +BMGC_DS07058,BMG_DS027312,,UMLS ID:C0700110,,,,,metastatic carcinoma in the bone,MONDO:0024884,,,bone carcinoma,DOID:2762,, +BMGC_DS07059,BMG_DS027317,Viral hepatitis B without mention of hepatic coma,UMLS ID:C0700211,Type B viral hepatitis | Serum hepatitis | Hepatitis B | SH - Serum hepatitis | Hepatitis B infection | Viral hepatitis type B | Viral hepatitis type B (disorder),SNOMEDCT ID:66071002,,,,,,,,,, +BMGC_DS07060,BMG_DS027318,Pulmonary mycobacterium avium-intracellulare infection,UMLS ID:C0700226,Pulmonary Mycobacterium avium complex infection (disorder) | Pulmonary Mycobacterium avium complex infection | Pulmonary Mycobacterium avium-intracellulare infection | Battey disease (disorder) | Battey disease | Pulmonary mycobacterium intracellulare infection | Battey disease | Battey disease (disorder),SNOMEDCT ID:186342000 | SNOMEDCT ID:373435003 | SNOMEDCT ID:14009004,,,,,,,,,, +BMGC_DS07061,BMG_DS027319,Brachial Plexus Neuropathies,UMLS ID:C0700251,,,,,brachial plexus neuropathy,MONDO:0006683,Brachial Plexus Neuropathies,MeSH ID:D020516,brachial plexus neuropathy,DOID:3690,, +BMGC_DS07062,BMG_DS027320,Heinz Body Anemias,UMLS ID:C0700299,,,,,Heinz body anemia,MONDO:0007705,,MeSH ID:C563030,,,,OMIM ID:140700 +BMGC_DS07063,BMG_DS027321,Thibierge-Weissenbach syndrome,UMLS ID:C0700318,Systemic sclerosis | Systemic scleroderma | Thibierge-Weissenbach syndrome | SS - Systemic sclerosis | Systemic sclerosis (disorder),SNOMEDCT ID:89155008,,,,,,,,,, +BMGC_DS07064,BMG_DS027323,"Candidiasis, Vulvovaginal",UMLS ID:C0700345,,,,,vulvovaginal candidiasis,MONDO:0006014,"Candidiasis, Vulvovaginal",MeSH ID:D002181,vulvovaginal candidiasis,DOID:2272,, +BMGC_DS07065,BMG_DS027325,,UMLS ID:C0700367,,,,,ependymoblastoma,MONDO:0016715,,,"embryonal tumor with multilayered rosettes, C19MC-altered",DOID:0080903,, +BMGC_DS07066,BMG_DS027327,Sick Headaches,UMLS ID:C0700438,,,,,,,Migraine Disorders,MeSH ID:D008881,,,, +BMGC_DS07067,BMG_DS027329,,UMLS ID:C0700501,,,,,congenital nystagmus,MONDO:0005712,,,congenital nystagmus,DOID:9649,, +BMGC_DS07068,BMG_DS027332,Chronic peptic ulcer,UMLS ID:C0700509,Chronic peptic ulcer | Chronic peptic ulcer (disorder),SNOMEDCT ID:128287004,,,,,,,,,, +BMGC_DS07069,BMG_DS027335,,UMLS ID:C0700588,,,,,acquired hypertrophic pyloric stenosis,MONDO:0001878,,,acquired gastric outlet stenosis,DOID:14099,, +BMGC_DS07070,BMG_DS027336,Radiculopathy,UMLS ID:C0700594,Radiculopathy | Nerve root disorder | Radiculopathy (disorder) | Nerve root disorder | Radiculopathy | Nerve root disorder (disorder),SNOMEDCT ID:394640000 | SNOMEDCT ID:72274001,"Radiculopathy, unspecified",ICD11 ID:8B93.Z,radiculopathy,MONDO:0002959,Radiculopathy,MeSH ID:D011843,radiculopathy,DOID:4306,ICD10 ID:M54.1, +BMGC_DS07071,BMG_DS027337,Spinal Muscular Atrophies of Childhood,UMLS ID:C0700595,,,,,,,Spinal Muscular Atrophies of Childhood,MeSH ID:D014897,childhood spinal muscular atrophy,DOID:0060160,, +BMGC_DS07072,BMG_DS027339,Strudwick syndrome,UMLS ID:C0700635,"Dappled metaphysis syndrome | Spondyloepimetaphyseal dysplasia, Strudwick type | Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) | SEMD - spondyloepimetaphyseal dysplasia, Strudwick type | Strudwick syndrome",SNOMEDCT ID:702350003,,,"spondyloepimetaphyseal dysplasia, Strudwick type",MONDO:0008476,,MeSH ID:C537501,,,,OMIM ID:184250 +BMGC_DS07073,BMG_DS027342,,UMLS ID:C0700639,,,,,inherited hypertrophic pyloric stenosis,MONDO:0100239,,,hypertrophic pyloric stenosis,DOID:12638,, +BMGC_DS07074,BMG_DS027350,Adrenogenital disorder,UMLS ID:C0701163,Adrenogenital disorder | Adrenogenital disorder (disorder) | Adrenogenital disorder | Adrenogenital syndrome | Androgenital syndrome | Adrenogenital disorder (disorder),SNOMEDCT ID:154706003 | SNOMEDCT ID:267395000,,,,,,,congenital adrenal hyperplasia,DOID:0050811,, +BMGC_DS07075,BMG_DS027353,Choledocholithiasis,UMLS ID:C0701818,Calculus of common bile duct | Calculus of common bile duct (disorder) | Bile duct calculus (& [without mention of cholecystitis]) | Bile duct calculus without mention of cholecystitis | Choledocholithiasis | Bile duct calculus (& [without mention of cholecystitis]) (disorder),SNOMEDCT ID:49910001 | SNOMEDCT ID:197397004,,,choledocholithiasis,MONDO:0006699,Choledocholithiasis,MeSH ID:D042883,choledocholithiasis,DOID:11755,, +BMGC_DS07076,BMG_DS027355,Disorder of thyrocalcitonin secretion,UMLS ID:C0701822,Disorder of thyrocalcitonin secretion | Disorder of thyrocalcitonin secretion (disorder),SNOMEDCT ID:190303007,,,thyrocalcitonin secretion disease,MONDO:0001525,,,thyrocalcitonin secretion disease,DOID:12424,, +BMGC_DS07077,BMG_DS027363,Palsy of conjugate gaze,UMLS ID:C0702143,Palsy of conjugate gaze | Conjugate gaze palsy | Palsy of conjugate gaze (disorder),SNOMEDCT ID:1534008,,,conjugate gaze palsy,MONDO:0001527,,,conjugate gaze palsy,DOID:12445,, +BMGC_DS07078,BMG_DS027366,Constitutional aplastic anemia,UMLS ID:C0702159,Hypoplastic anaemia - familial | Constitutional aplastic anaemia | Constitutional aplastic anemia | Hypoplastic anemia - familial | Constitutional aplastic anemia (disorder) | Constitutional aplastic anemia | Congenital aplastic anaemia | Constitutional aplastic anaemia | Congenital aplastic anemia | Constitutional aplastic anemia (disorder) | Hypoplastic anaemia - familial | Hypoplastic anemia - familial | Pancytopenia with malformations | Blackfan - Diamond syndrome | (Anemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) | (Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) | Constitutional aplastic anemia | Hypoplastic anemia - familial | Constitutional aplastic anaemia | Hypoplastic anaemia - familial | (Anaemia: [constitutional aplastic] or [familial hypoplastic]) or (pancytopenia with malformations) or (Blackfan - Diamond syndrome) (disorder) | Constitutional aplastic anaemia | Constitutional aplastic anemia | Constitutional aplastic anaemia (disorder),SNOMEDCT ID:267523003 | SNOMEDCT ID:28975000 | SNOMEDCT ID:191235004 | SNOMEDCT ID:154808006,"Anaemias or other erythrocyte disorders, unspecified",ICD11 ID:3A9Z,,,,,congenital hypoplastic anemia,DOID:1342,ICD10 ID:D61.0, +BMGC_DS07079,BMG_DS027369,Acne,UMLS ID:C0702166,Acne | Acne (disorder),SNOMEDCT ID:11381005,,,acne,MONDO:0011438,Acne Vulgaris,MeSH ID:D000152,acne,DOID:6543,ICD10 ID:L70,OMIM ID:MTHU036937 +BMGC_DS07080,BMG_DS027375,,UMLS ID:C0728864,,,,,nasal cavity cancer,MONDO:0001128,,,nasal cavity cancer,DOID:10811,, +BMGC_DS07081,BMG_DS027376,Disorder of circulatory system,UMLS ID:C0728936,Cardiovascular disorder | Disorder of circulatory system | Cardiovascular disease | Disorder of the circulatory system | Cardiovascular system disease | Disorder of cardiovascular system (disorder) | Disorder of cardiovascular system | CVD - cardiovascular disease | CVS disease - cardiovascular system disease,SNOMEDCT ID:49601007,,,,,,,,,, +BMGC_DS07082,BMG_DS027378,,UMLS ID:C0728951,,,,,appendix carcinoma,MONDO:0003196,,,appendix carcinoma,DOID:4902,, +BMGC_DS07083,BMG_DS027380,Acute peptic ulcer (disorder),UMLS ID:C0729245,Acute peptic ulcer | Acute peptic ulcer (disorder),SNOMEDCT ID:196682000,,,,,,,,,, +BMGC_DS07084,BMG_DS027386,,UMLS ID:C0729264,,,,,preterm premature rupture of the membranes,MONDO:0012511,,,,,,OMIM ID:610504 +BMGC_DS07085,BMG_DS027393,Bacterial respiratory infection,UMLS ID:C0729518,Bacterial respiratory infection | Bacterial respiratory infection (disorder),SNOMEDCT ID:312117008,,,,,,,,,, +BMGC_DS07086,BMG_DS027394,Bacterial upper respiratory infection,UMLS ID:C0729519,Bacterial upper respiratory infection | Bacterial upper respiratory infection (disorder),SNOMEDCT ID:312118003,,,,,,,,,, +BMGC_DS07087,BMG_DS027395,Bacterial lower respiratory infection,UMLS ID:C0729520,Bacterial lower respiratory infection | Bacterial lower respiratory infection (disorder),SNOMEDCT ID:312119006,,,,,,,,,, +BMGC_DS07088,BMG_DS027399,Bacterial urinary infection,UMLS ID:C0729524,Bacterial urinary infection | Bacterial urinary infection (disorder) | Bacterial UTI (urinary tract infection),SNOMEDCT ID:312124009,,,bacterial urinary tract infection,MONDO:0005247,,,,,, +BMGC_DS07089,BMG_DS027410,Viral ear infection,UMLS ID:C0729535,Viral ear infection | Viral ear infection (disorder),SNOMEDCT ID:312137007,,,,,,,,,, +BMGC_DS07090,BMG_DS027413,Fungal ear infection,UMLS ID:C0729545,Fungal ear infection | Fungal ear infection (disorder),SNOMEDCT ID:312148000,,,,,,,,,, +BMGC_DS07091,BMG_DS027426,Floating-harbor syndrome,UMLS ID:C0729582,,,,,Floating-Harbor syndrome,MONDO:0007621,,MeSH ID:C537062,Floating-Harbor syndrome,DOID:0111358,,OMIM ID:136140 +BMGC_DS07092,BMG_DS027429,Infective otitis media,UMLS ID:C0729586,Infective otitis media | Infective otitis media (disorder),SNOMEDCT ID:312218008,,,,,,,,,, +BMGC_DS07093,BMG_DS027430,Infective blepharitis,UMLS ID:C0729587,Infective blepharitis | Infective blepharitis (disorder),SNOMEDCT ID:312219000,,,,,,,,,, +BMGC_DS07094,BMG_DS027450,Infective laryngitis,UMLS ID:C0729772,Infective laryngitis | Infective laryngitis (disorder),SNOMEDCT ID:312423006,,,,,,,,,, +BMGC_DS07095,BMG_DS027502,Vitreomacular traction syndrome,UMLS ID:C0730274,Vitreomacular traction syndrome | Vitreomacular traction syndrome (disorder),SNOMEDCT ID:312901001,,,,,,,,,, +BMGC_DS07096,BMG_DS027506,Severe nonproliferative diabetic retinopathy,UMLS ID:C0730278,Severe nonproliferative diabetic retinopathy | Severe nonproliferative retinopathy | Severe NPDR (nonproliferative diabetic retinopathy) | Severe nonproliferative retinopathy due to diabetes mellitus (disorder) | Severe nonproliferative retinopathy due to diabetes mellitus,SNOMEDCT ID:312905005,,,severe nonproliferative diabetic retinopathy,MONDO:0004687,,,severe nonproliferative diabetic retinopathy,DOID:8946,, +BMGC_DS07097,BMG_DS027513,Macular edema due to diabetes mellitus,UMLS ID:C0730285,Diabetic macular edema | Diabetic macular oedema | Macular edema due to diabetes mellitus | Macular edema due to diabetes mellitus (disorder) | Macular oedema due to diabetes mellitus,SNOMEDCT ID:312912001,,,diabetic macular edema,MONDO:0004728,,,diabetic macular edema,DOID:9191,, +BMGC_DS07098,BMG_DS027518,Cone Dystrophy,UMLS ID:C0730290,,,,,cone dystrophy,MONDO:0000455,Cone Dystrophy,MeSH ID:D000077765,cone dystrophy,DOID:0050795,, +BMGC_DS07099,BMG_DS027519,Choroidal dystrophy,UMLS ID:C0730291,Choroidal dystrophy | Choroidal dystrophy (disorder),SNOMEDCT ID:312918002,,,,,,,,,,OMIM ID:MTHU067558 +BMGC_DS07100,BMG_DS027520,Macular dystrophy,UMLS ID:C0730292,Macular dystrophy | Macular dystrophy (disorder),SNOMEDCT ID:312919005,,,,,,,,,,OMIM ID:MTHU013225 +BMGC_DS07101,BMG_DS027522,North Carolina macular dystrophy,UMLS ID:C0730294,North Carolina macular dystrophy | North Carolina macular dystrophy (disorder),SNOMEDCT ID:312925009,,,North Carolina macular dystrophy,MONDO:0007630,,,North Carolina macular dystrophy,DOID:0070439,,OMIM ID:136550 +BMGC_DS07102,BMG_DS027523,,UMLS ID:C0730295,,,,,basal laminar drusen,MONDO:0007472,,,,,,OMIM ID:126700 +BMGC_DS07103,BMG_DS027530,,UMLS ID:C0730303,,,,,retinal hemangioblastoma,MONDO:0003343,,,retinal hemangioblastoma,DOID:5240,, +BMGC_DS07104,BMG_DS027532,,UMLS ID:C0730306,,,,,eye lymphoma,MONDO:0004034,,,eye lymphoma,DOID:6903,, +BMGC_DS07105,BMG_DS027558,Disorder of macula of retina,UMLS ID:C0730362,Macular disease | Macular disorder | Disorder of macula of retina (disorder) | Disorder of macula of retina | Maculopathy,SNOMEDCT ID:312999006,,,,,,,,,, +BMGC_DS07106,BMG_DS027563,Anhydramnios,UMLS ID:C0730379,Anhydramnios | Anhydramnios (disorder),SNOMEDCT ID:313017000 | SNOMEDCT ID:199655009,,,,,,,,,,OMIM ID:MTHU041644 +BMGC_DS07107,BMG_DS027575,Functional visual loss,UMLS ID:C0730512,Functional visual loss | Functional visual loss (disorder) | Nonphysiologic vision loss | Nonphysiologic acuity loss,SNOMEDCT ID:313165001,,,,,,,,,, +BMGC_DS07108,BMG_DS027584,Severe chronic obstructive pulmonary disease,UMLS ID:C0730607,Severe chronic obstructive pulmonary disease | Severe chronic obstructive pulmonary disease (disorder),SNOMEDCT ID:195998004 | SNOMEDCT ID:313299006 | SNOMEDCT ID:155584009,,,,,,,,,, +BMGC_DS07109,BMG_DS027588,"Hypophosphatemic Rickets, X-Linked Dominant",UMLS ID:C0733682,,,,,X-linked dominant hypophosphatemic rickets,MONDO:0010619,Familial Hypophosphatemic Rickets,MeSH ID:D053098,X-linked dominant hypophosphatemic rickets,DOID:0050445,,OMIM ID:307800 +BMGC_DS07110,BMG_DS027589,,UMLS ID:C0740083,,,,,glottis carcinoma,MONDO:0002355,,,glottis carcinoma,DOID:2599,, +BMGC_DS07111,BMG_DS027591,,UMLS ID:C0740277,,,,,bile duct carcinoma,MONDO:0005496,,,bile duct carcinoma,DOID:4897,, +BMGC_DS07112,BMG_DS027592,,UMLS ID:C0740302,,,,,myelodysplastic syndrome associated with isolated del(5q),MONDO:0007925,,,,,,OMIM ID:153550 +BMGC_DS07113,BMG_DS027593,"Amyloidosis, Familial",UMLS ID:C0740340,,,,,hereditary amyloidosis,MONDO:0018634,"Amyloidosis, Familial",MeSH ID:D028226,,,, +BMGC_DS07114,BMG_DS027595,Mononeuropathy Multiplex,UMLS ID:C0740343,,,,,,,Mononeuropathies,MeSH ID:D020422,,,, +BMGC_DS07115,BMG_DS027596,,UMLS ID:C0740372,,,,,gastrointestinal lymphoma,MONDO:0004699,,,gastrointestinal lymphoma,DOID:903,, +BMGC_DS07116,BMG_DS027598,Middle Cerebral Artery Thrombosis,UMLS ID:C0740376,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS07117,BMG_DS027599,"Aneurysm, Anterior Communicating Artery",UMLS ID:C0740386,,,,,,,Intracranial Aneurysm,MeSH ID:D002532,,,, +BMGC_DS07118,BMG_DS027600,"Infarction, Middle Cerebral Artery",UMLS ID:C0740392,,,,,middle cerebral artery infarction,MONDO:0006857,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,middle cerebral artery infarction,DOID:3525,, +BMGC_DS07119,BMG_DS027601,Hyperuricemia,UMLS ID:C0740394,Hyperuricemia | Uricacidemia | Hyperuricaemia | Uricacidaemia | Hyperuricemia (disorder) | Hyperuricemia | Hyperuricaemia | Hyperuricaemia (disorder) | Serum uric acid level | Blood urate | Urate - blood | (Blood urate (& serum level)) or (hyperuricemia) | (Blood urate (& serum level)) or (hyperuricaemia) | Hyperuricemia | Hyperuricaemia | (Blood urate (& serum level)) or (hyperuricaemia) (procedure) | Hyperuricaemia | Hyperuricemia | Blood urate raised | (Blood urate raized) or (hyperuricemia) | (Blood urate raised) or (hyperuricaemia) | (Blood urate raised) or (hyperuricaemia) (finding) | Hyperuricaemia | (Blood urate (& serum level)) or (hyperuricaemia) | Hyperuricemia | Blood urate | Serum uric acid level | Urate - blood | (Blood urate (& serum level)) or (hyperuricemia) | (Blood urate (& serum level)) or (hyperuricaemia) (procedure),SNOMEDCT ID:35885006 | SNOMEDCT ID:237857006 | SNOMEDCT ID:144021008 | SNOMEDCT ID:166733000 | SNOMEDCT ID:271198001,,,obsolete hyperuricemia,MONDO:0002144,Hyperuricemia,MeSH ID:D033461,hyperuricemia,DOID:1920,,OMIM ID:MTHU004766 +BMGC_DS07120,BMG_DS027605,Acute diarrhea,UMLS ID:C0740441,Acute diarrhea (disorder) | Acute diarrhoea | Acute diarrhea,SNOMEDCT ID:409966000,,,acute diarrhea,MONDO:0000257,,,,,, +BMGC_DS07121,BMG_DS027606,Diabetic peripheral neuropathy,UMLS ID:C0740447,Diabetic peripheral neuropathy | Peripheral neuropathy due to diabetes mellitus (disorder) | Peripheral neuropathy due to diabetes mellitus,SNOMEDCT ID:424736006,,,,,,,,,, +BMGC_DS07122,BMG_DS027608,,UMLS ID:C0740457,,,,,kidney cancer,MONDO:0002367,,,kidney cancer,DOID:263,, +BMGC_DS07123,BMG_DS027609,,UMLS ID:C0740479,,,,,undifferentiated high grade pleomorphic sarcoma of bone,MONDO:0002618,,,malignant fibrous histiocytoma of bone,DOID:3352,, +BMGC_DS07124,BMG_DS027610,,UMLS ID:C0740480,,,,,cerebellar astrocytoma,MONDO:0003165,,,cerebellar astrocytoma,DOID:4848,, +BMGC_DS07125,BMG_DS027611,,UMLS ID:C0740487,,,,,maxillary sinus carcinoma,MONDO:0001748,,,maxillary sinus cancer,DOID:1357,, +BMGC_DS07126,BMG_DS027616,,UMLS ID:C0740858,,,,,substance abuse,MONDO:0002491,,,,,, +BMGC_DS07127,BMG_DS027628,"Aortic Aneurysm, Ruptured",UMLS ID:C0741160,,,,,,,Aortic Rupture,MeSH ID:D001019,aortic aneurysm,DOID:3627,, +BMGC_DS07128,BMG_DS027638,Recurrent bronchitis,UMLS ID:C0741796,,,,,,,,,,,,OMIM ID:MTHU011349 +BMGC_DS07129,BMG_DS027641,Cardiac Events,UMLS ID:C0741923,,,,,,,Cardiovascular Diseases,MeSH ID:D002318,,,, +BMGC_DS07130,BMG_DS027644,Cerebellar vermis atrophy,UMLS ID:C0742028,,,,,,,,,,,,OMIM ID:MTHU009393 +BMGC_DS07131,BMG_DS027646,,UMLS ID:C0742115,,,,,cerebritis,MONDO:0002645,,,cerebritis,DOID:3431,, +BMGC_DS07132,BMG_DS027647,"Radiculopathy, Cervical",UMLS ID:C0742186,,,,,,,Radiculopathy,MeSH ID:D011843,,,, +BMGC_DS07133,BMG_DS027650,Acute Chest Syndrome,UMLS ID:C0742343,,,,,acute chest syndrome,MONDO:0005632,Acute Chest Syndrome,MeSH ID:D056586,acute chest syndrome,DOID:1584,, +BMGC_DS07134,BMG_DS027658,Conus Medullaris Syndrome,UMLS ID:C0742803,,,,,,,Spinal Cord Compression,MeSH ID:D013117,,,, +BMGC_DS07135,BMG_DS027659,Bacterial cystitis,UMLS ID:C0742964,Bacterial cystitis (disorder) | Bacterial cystitis | Bladder infection due to Bacteria,SNOMEDCT ID:424551004,,,,,,,,,, +BMGC_DS07136,BMG_DS027662,Granulomatous dermatitis,UMLS ID:C0743086,,,,,granulomatous dermatitis,MONDO:0006555,,,granulomatous dermatitis,DOID:4397,,OMIM ID:MTHU026378 +BMGC_DS07137,BMG_DS027666,Focal Dystonia,UMLS ID:C0743332,,,,,focal dystonia,MONDO:0000477,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07138,BMG_DS027675,,UMLS ID:C0744295,,,,,gastric leiomyosarcoma,MONDO:0003367,,,gastric leiomyosarcoma,DOID:5280,, +BMGC_DS07139,BMG_DS027677,Immune-complex glomerulonephritis,UMLS ID:C0744421,Immune-complex glomerulonephritis | Immune-complex glomerulonephritis (disorder) | Immune complex glomerulonephritis,SNOMEDCT ID:123752003,,,immune-complex glomerulonephritis,MONDO:0003140,,,immune-complex glomerulonephritis,DOID:4784,, +BMGC_DS07140,BMG_DS027689,Chronic hiccup,UMLS ID:C0744898,Chronic hiccup (disorder) | Chronic hiccup | Chronic hiccough | Chronic hiccups | Chronic hiccoughs,SNOMEDCT ID:716771000,,,chronic hiccup,MONDO:0018334,,,,,, +BMGC_DS07141,BMG_DS027690,,UMLS ID:C0745048,,,,,,,,,osteonecrosis,DOID:10159,, +BMGC_DS07142,BMG_DS027691,Hypereosinophilia,UMLS ID:C0745091,,,,,,,Eosinophilia,MeSH ID:D004802,,,,OMIM ID:MTHU010702 +BMGC_DS07143,BMG_DS027692,Hyperlipoproteinemia Type IIa,UMLS ID:C0745103,,,,,"hypercholesterolemia, familial, 1",MONDO:0007750,Hyperlipoproteinemia Type II,MeSH ID:D006938,,,,OMIM ID:143890 +BMGC_DS07144,BMG_DS027693,Isolated Systolic Hypertension,UMLS ID:C0745133,,,,,,,Isolated Systolic Hypertension,MeSH ID:D000092244,,,, +BMGC_DS07145,BMG_DS027694,Hypertensive emergency,UMLS ID:C0745136,Hypertensive emergency | Hypertensive emergency (disorder),SNOMEDCT ID:132721000119104,,,,,,,,,ICD10 ID:I16.1, +BMGC_DS07146,BMG_DS027695,Hypertensive Urgency,UMLS ID:C0745138,,,,,hypertensive urgency,MONDO:1030007,Hypertensive Crisis,MeSH ID:D000096003,,,, +BMGC_DS07147,BMG_DS027704,End Stage Liver Disease,UMLS ID:C0745744,,,,,,,End Stage Liver Disease,MeSH ID:D058625,,,, +BMGC_DS07148,BMG_DS027708,Chronic lung disease,UMLS ID:C0746102,Chronic lung disease (disorder) | Chronic lung disease,SNOMEDCT ID:413839001,,,,,,,,,,OMIM ID:MTHU014136 +BMGC_DS07149,BMG_DS027714,"Myelitis, Necrotizing",UMLS ID:C0746706,,,,,,,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS07150,BMG_DS027715,,UMLS ID:C0746727,,,,,septal myocardial infarction,MONDO:0003671,,,septal myocardial infarction,DOID:5846,, +BMGC_DS07151,BMG_DS027721,Febrile Neutropenia,UMLS ID:C0746883,,,,,,,Febrile Neutropenia,MeSH ID:D064147,,,, +BMGC_DS07152,BMG_DS027726,Recurrent otitis media,UMLS ID:C0747085,,,,,,,,,,,,OMIM ID:MTHU001507 +BMGC_DS07153,BMG_DS027727,Ovarian failure,UMLS ID:C0747102,Ovarian failure | Ovarian failure (disorder),SNOMEDCT ID:111550004,,,,,,,,,,OMIM ID:MTHU074236 +BMGC_DS07154,BMG_DS027730,,UMLS ID:C0747273,,,,,parotid gland cancer,MONDO:0004700,,,parotid gland cancer,DOID:9036,, +BMGC_DS07155,BMG_DS027732,Peroneal Neuropathies,UMLS ID:C0747533,,,,,peroneal neuropathy,MONDO:0002910,Peroneal Neuropathies,MeSH ID:D020427,peroneal neuropathy,DOID:4201,, +BMGC_DS07156,BMG_DS027747,Erythrodermic psoriasis,UMLS ID:C0748052,Erythrodermic psoriasis | Erythrodermic psoriasis (disorder) | Exfoliative psoriasis | Exfoliative dermatitis due to psoriasis | Psoriasis vulgaris | Erythrodermic psoriasis | Exfoliative psoriasis | Psoriasis vulgaris (disorder) | Exfoliative dermatitis due to psoriasis,SNOMEDCT ID:200977004 | SNOMEDCT ID:56210000,,,,,,,,,,OMIM ID:MTHU068351 +BMGC_DS07157,BMG_DS027749,Radial Neuropathy,UMLS ID:C0748226,,,,,radial neuropathy,MONDO:0001459,Radial Neuropathy,MeSH ID:D020425,radial neuropathy,DOID:12171,, +BMGC_DS07158,BMG_DS027754,Reynolds syndrome,UMLS ID:C0748397,Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) | Primary biliary cirrhosis co-occurrent with systemic scleroderma | Reynolds syndrome,SNOMEDCT ID:715401008,,,Reynolds syndrome,MONDO:0013276,,,,,,OMIM ID:613471 +BMGC_DS07159,BMG_DS027755,"HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED",UMLS ID:C0748400,,,,,"hemolytic disease of fetus and newborn, RH-induced",MONDO:0859172,,,,,,OMIM ID:619462 +BMGC_DS07160,BMG_DS027758,"Arthritis, Sacroiliac",UMLS ID:C0748473,,,,,"arthritis, sacroiliac",MONDO:0007156,,MeSH ID:C563037,,,,OMIM ID:108100 +BMGC_DS07161,BMG_DS027759,"Scleroderma, Limited",UMLS ID:C0748540,,,,,limited cutaneous systemic sclerosis,MONDO:0016358,"Scleroderma, Limited",MeSH ID:D045745,limited scleroderma,DOID:1577,, +BMGC_DS07162,BMG_DS027761,,UMLS ID:C0748616,,,,,sella turcica neoplasm,MONDO:0002720,,,sella turcica neoplasm,DOID:3643,, +BMGC_DS07163,BMG_DS027770,Submandibular abscess,UMLS ID:C0749101,,,Cellulitis or abscess of soft tissues of the mouth,ICD11 ID:DA01.30,,,,,uvulitis,DOID:0060310,ICD10 ID:K12.2, +BMGC_DS07164,BMG_DS027772,,UMLS ID:C0749163,,,,,supraglottis squamous cell carcinoma,MONDO:0004293,,,supraglottis squamous cell carcinoma,DOID:7587,, +BMGC_DS07165,BMG_DS027777,,UMLS ID:C0749420,,,,,athyreosis,MONDO:0019855,,,,,, +BMGC_DS07166,BMG_DS027778,,UMLS ID:C0749424,,,,,thyroid Hurthle cell carcinoma,MONDO:0011836,,,oncocytic carcinoma of the thyroid,DOID:8161,,OMIM ID:607464 +BMGC_DS07167,BMG_DS027790,,UMLS ID:C0750384,,,,,coumarin resistance,MONDO:0007390,,,,,,OMIM ID:122700 +BMGC_DS07168,BMG_DS027794,Cochlear Neuritis,UMLS ID:C0750884,,,,,,,Vestibulocochlear Nerve Diseases,MeSH ID:D000160,,,, +BMGC_DS07169,BMG_DS027795,Cochlear Nerve Diseases,UMLS ID:C0750885,,,,,,,Vestibulocochlear Nerve Diseases,MeSH ID:D000160,,,, +BMGC_DS07170,BMG_DS027796,Vestibular Nerve Diseases,UMLS ID:C0750886,,,,,,,Vestibulocochlear Nerve Diseases,MeSH ID:D000160,,,, +BMGC_DS07171,BMG_DS027797,,UMLS ID:C0750887,,,,,adrenal gland cancer,MONDO:0002817,,,adrenal gland cancer,DOID:3953,, +BMGC_DS07172,BMG_DS027798,"Autonomic Hyperactivity, Alcohol Withdrawal Associated",UMLS ID:C0750897,,,,,,,Alcohol Withdrawal Delirium,MeSH ID:D000430,,,, +BMGC_DS07173,BMG_DS027799,"Alzheimer Disease, Early Onset",UMLS ID:C0750901,,,,,,,Alzheimer Disease,MeSH ID:D000544,,,, +BMGC_DS07174,BMG_DS027800,"Amblyopia, Developmental",UMLS ID:C0750902,,,,,,,Amblyopia,MeSH ID:D000550,,,, +BMGC_DS07175,BMG_DS027801,"Amblyopia, Suppression",UMLS ID:C0750903,,,,,suppression amblyopia,MONDO:0001019,Amblyopia,MeSH ID:D000550,strabismic amblyopia,DOID:10375,, +BMGC_DS07176,BMG_DS027802,"Amino Acid Metabolism, Inherited Disorders",UMLS ID:C0750905,,,,,,,"Amino Acid Metabolism, Inborn Errors",MeSH ID:D000592,,,, +BMGC_DS07177,BMG_DS027803,,UMLS ID:C0750927,,,,,childhood apraxia of speech,MONDO:0011184,,,,,,OMIM ID:602081 +BMGC_DS07178,BMG_DS027804,,UMLS ID:C0750929,,,,,Chiari malformation type I,MONDO:0007316,,,,,,OMIM ID:118420 +BMGC_DS07179,BMG_DS027807,,UMLS ID:C0750935,,,,,cerebral astrocytoma,MONDO:0021633,,,malignant astrocytoma,DOID:3069,, +BMGC_DS07180,BMG_DS027808,"Tremor, Rubral",UMLS ID:C0750940,,,,,,,Ataxia,MeSH ID:D001259,,,, +BMGC_DS07181,BMG_DS027810,Peripheral Autonomic Nervous System Diseases,UMLS ID:C0750944,,,,,,,Autonomic Nervous System Diseases,MeSH ID:D001342,,,, +BMGC_DS07182,BMG_DS027811,"Nervous System Diseases, Parasympathetic",UMLS ID:C0750945,,,,,parasympathetic nervous system disorder,MONDO:0044995,Autonomic Nervous System Diseases,MeSH ID:D001342,,,, +BMGC_DS07183,BMG_DS027812,"Nervous System Diseases, Sympathetic",UMLS ID:C0750946,,,,,sympathetic nervous system disorder,MONDO:0044993,Autonomic Nervous System Diseases,MeSH ID:D001342,,,, +BMGC_DS07184,BMG_DS027813,Vertebrogenic Pain Syndrome,UMLS ID:C0750949,,,,,,,Back Pain,MeSH ID:D001416,,,, +BMGC_DS07185,BMG_DS027814,Lenticulostriate Disorders,UMLS ID:C0750951,,,,,,,Basal Ganglia Diseases,MeSH ID:D001480,,,, +BMGC_DS07186,BMG_DS027815,,UMLS ID:C0750952,,,,,biliary tract cancer,MONDO:0003060,,,biliary tract cancer,DOID:4607,, +BMGC_DS07187,BMG_DS027816,Urinary Bladder Neurogenesis,UMLS ID:C0750953,,,,,obsolete neurogenic bladder,MONDO:0001445,"Urinary Bladder, Neurogenic",MeSH ID:D001750,,,, +BMGC_DS07188,BMG_DS027817,"Neurogenic Urinary Bladder, Spastic",UMLS ID:C0750955,,,,,obsolete neurogenic bladder,MONDO:0001445,"Urinary Bladder, Neurogenic",MeSH ID:D001750,,,, +BMGC_DS07189,BMG_DS027818,"Blindness, Monocular",UMLS ID:C0750958,,,,,,,Blindness,MeSH ID:D001766,,,, +BMGC_DS07190,BMG_DS027823,Central Nervous System Metabolic Disorders,UMLS ID:C0750968,,,,,,,"Brain Diseases, Metabolic",MeSH ID:D001928,,,, +BMGC_DS07191,BMG_DS027824,,UMLS ID:C0750974,,,,,primary brain neoplasm,MONDO:0021632,,,brain cancer,DOID:1319,, +BMGC_DS07192,BMG_DS027825,,UMLS ID:C0750979,,,,,,,,,brain cancer,DOID:1319,, +BMGC_DS07193,BMG_DS027826,Internal Carotid Artery Diseases,UMLS ID:C0750986,,,,,,,Carotid Artery Diseases,MeSH ID:D002340,,,, +BMGC_DS07194,BMG_DS027827,"Arterial Diseases, Common Carotid",UMLS ID:C0750987,,,,,,,Carotid Artery Diseases,MeSH ID:D002340,,,, +BMGC_DS07195,BMG_DS027828,Common Carotid Artery Thrombosis,UMLS ID:C0750988,,,,,,,Carotid Artery Thrombosis,MeSH ID:D002341,,,, +BMGC_DS07196,BMG_DS027829,External Carotid Artery Thrombosis,UMLS ID:C0750989,,,,,,,Carotid Artery Thrombosis,MeSH ID:D002341,,,, +BMGC_DS07197,BMG_DS027830,Internal Carotid Artery Thrombosis,UMLS ID:C0750990,,,,,,,Carotid Artery Thrombosis,MeSH ID:D002341,,,, +BMGC_DS07198,BMG_DS027832,"Catatonia, Malignant",UMLS ID:C0750992,,,,,,,Catatonia,MeSH ID:D002389,,,, +BMGC_DS07199,BMG_DS027834,"Aneurysm, Basilar Artery",UMLS ID:C0751001,,,,,,,Intracranial Aneurysm,MeSH ID:D002532,,,, +BMGC_DS07200,BMG_DS027835,Brain Aneurysm,UMLS ID:C0751003,,,,,brain aneurysm,MONDO:0005291,Intracranial Aneurysm,MeSH ID:D002532,,,, +BMGC_DS07201,BMG_DS027836,Giant Intracranial Aneurysm,UMLS ID:C0751004,,,,,,,Intracranial Aneurysm,MeSH ID:D002532,,,, +BMGC_DS07202,BMG_DS027837,"Mycotic Aneurysm, Intracranial",UMLS ID:C0751005,,,,,,,Intracranial Aneurysm,MeSH ID:D002532,,,, +BMGC_DS07203,BMG_DS027838,Intracranial Atherosclerosis,UMLS ID:C0751007,,,,,,,Intracranial Arteriosclerosis,MeSH ID:D002537,,,, +BMGC_DS07204,BMG_DS027839,"Cerebral Infarction, Left Hemisphere",UMLS ID:C0751010,,,,,,,Cerebral Infarction,MeSH ID:D002544,,,, +BMGC_DS07205,BMG_DS027840,"Cerebral Infarction, Right Hemisphere",UMLS ID:C0751011,,,,,,,Cerebral Infarction,MeSH ID:D002544,,,, +BMGC_DS07206,BMG_DS027841,Anterior Choroidal Artery Infarction,UMLS ID:C0751012,,,,,,,Cerebral Infarction,MeSH ID:D002544,,,, +BMGC_DS07207,BMG_DS027842,Subcortical Infarction,UMLS ID:C0751014,,,,,,,Cerebral Infarction,MeSH ID:D002544,,,, +BMGC_DS07208,BMG_DS027843,Carotid Circulation Transient Ischemic Attack,UMLS ID:C0751019,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS07209,BMG_DS027844,"Transient Ischemic Attack, Vertebrobasilar Circulation",UMLS ID:C0751020,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS07210,BMG_DS027845,Crescendo Transient Ischemic Attacks,UMLS ID:C0751021,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS07211,BMG_DS027846,"Brain Stem Ischemia, Transient",UMLS ID:C0751022,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS07212,BMG_DS027847,"Cerebral Palsy, Mixed",UMLS ID:C0751024,,,,,mixed cerebral palsy,MONDO:0000400,Cerebral Palsy,MeSH ID:D002547,,,, +BMGC_DS07213,BMG_DS027848,"Cerebral Palsy, Rolandic Type",UMLS ID:C0751025,,,,,,,Cerebral Palsy,MeSH ID:D002547,,,, +BMGC_DS07214,BMG_DS027852,,UMLS ID:C0751036,,,,,Charcot-Marie-Tooth disease type 1,MONDO:0019011,,,,,, +BMGC_DS07215,BMG_DS027853,"Cockayne Syndrome, Type III",UMLS ID:C0751037,,,,,Cockayne syndrome type 3,MONDO:0008998,Cockayne Syndrome,MeSH ID:D003057,,,,OMIM ID:216411 +BMGC_DS07216,BMG_DS027854,"Cockayne Syndrome, Type II",UMLS ID:C0751038,,,,,Cockayne syndrome type 2,MONDO:0019570,Cockayne Syndrome,MeSH ID:D003057,,,,OMIM ID:133540 +BMGC_DS07217,BMG_DS027855,"Cockayne Syndrome, Type I",UMLS ID:C0751039,,,,,Cockayne syndrome type 1,MONDO:0019569,Cockayne Syndrome,MeSH ID:D003057,,,,OMIM ID:216400 +BMGC_DS07218,BMG_DS027856,"Color Blindness, Inherited",UMLS ID:C0751042,,,,,,,Color Vision Defects,MeSH ID:D003117,,,, +BMGC_DS07219,BMG_DS027857,Monochromatopsia,UMLS ID:C0751043,,,,,,,Color Vision Defects,MeSH ID:D003117,,,, +BMGC_DS07220,BMG_DS027858,"Seizure, Febrile, Complex",UMLS ID:C0751057,,,,,,,"Seizures, Febrile",MeSH ID:D003294,,,, +BMGC_DS07221,BMG_DS027859,"Cranial Neuropathies, Multiple",UMLS ID:C0751059,,,,,,,Cranial Nerve Diseases,MeSH ID:D003389,,,, +BMGC_DS07222,BMG_DS027860,"Deafness, Acquired",UMLS ID:C0751068,,,,,,,Deafness,MeSH ID:D003638,,,, +BMGC_DS07223,BMG_DS027861,Diabetic Neuralgia,UMLS ID:C0751074,,,,,,,Diabetic Neuropathies,MeSH ID:D003929,,,, +BMGC_DS07224,BMG_DS027863,"Diplopia, Vertical",UMLS ID:C0751079,,,,,,,Diplopia,MeSH ID:D004172,,,, +BMGC_DS07225,BMG_DS027864,"Trisomy 21, Mitotic Nondisjunction",UMLS ID:C0751081,,,,,,,Down Syndrome,MeSH ID:D004314,,,, +BMGC_DS07226,BMG_DS027865,"Duane Retraction Syndrome, Type 2",UMLS ID:C0751083,,,,,Duane retraction syndrome 2,MONDO:0011444,Duane Retraction Syndrome,MeSH ID:D004370,,,,OMIM ID:604356 +BMGC_DS07227,BMG_DS027866,"Duane Retraction Syndrome, Type 3",UMLS ID:C0751084,,,,,,,Duane Retraction Syndrome,MeSH ID:D004370,,,, +BMGC_DS07228,BMG_DS027867,"Dyskinesia, Medication-Induced",UMLS ID:C0751088,,,,,,,"Dyskinesia, Drug-Induced",MeSH ID:D004409,,,, +BMGC_DS07229,BMG_DS027868,,UMLS ID:C0751094,,,,,,,,,ear cancer,DOID:5101,, +BMGC_DS07230,BMG_DS027869,"Empty Sella Syndrome, Secondary",UMLS ID:C0751097,,,,,,,Empty Sella Syndrome,MeSH ID:D004652,,,, +BMGC_DS07231,BMG_DS027871,"Encephalomyelitis, Postexanthem",UMLS ID:C0751099,,,,,,,"Encephalomyelitis, Acute Disseminated",MeSH ID:D004673,,,, +BMGC_DS07232,BMG_DS027872,Postinfectious Encephalomyelitis,UMLS ID:C0751100,,,,,,,"Encephalomyelitis, Acute Disseminated",MeSH ID:D004673,,,, +BMGC_DS07233,BMG_DS027873,Post-Vaccinal Encephalitis,UMLS ID:C0751101,,,,,post-vaccinal encephalitis,MONDO:0001773,"Encephalomyelitis, Acute Disseminated",MeSH ID:D004673,post-vaccinal encephalitis,DOID:13664,, +BMGC_DS07234,BMG_DS027878,"Leukoencephalitis, Subacute Hemorrhagic",UMLS ID:C0751108,,,,,,,"Leukoencephalitis, Acute Hemorrhagic",MeSH ID:D004684,,,, +BMGC_DS07235,BMG_DS027879,Single Seizure,UMLS ID:C0751110,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS07236,BMG_DS027880,Awakening Epilepsy,UMLS ID:C0751111,,,,,,,Epilepsy,MeSH ID:D004827,,,, +BMGC_DS07237,BMG_DS027881,Subclinical Seizure,UMLS ID:C0751112,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS07238,BMG_DS027882,Uncinate Seizures,UMLS ID:C0751113,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS07239,BMG_DS027883,Digestive Epilepsy,UMLS ID:C0751115,,,,,,,"Epilepsies, Partial",MeSH ID:D004828,,,, +BMGC_DS07240,BMG_DS027884,Cryptogenic Tonic-Clonic Epilepsy,UMLS ID:C0751117,,,,,,,"Epilepsy, Tonic-Clonic",MeSH ID:D004830,,,, +BMGC_DS07241,BMG_DS027885,"Epilepsy, Tonic-Clonic, Familial",UMLS ID:C0751118,,,,,,,"Epilepsy, Tonic-Clonic",MeSH ID:D004830,,,, +BMGC_DS07242,BMG_DS027886,"Epilepsy, Tonic-Clonic, Symptomatic",UMLS ID:C0751119,,,,,,,"Epilepsy, Tonic-Clonic",MeSH ID:D004830,,,, +BMGC_DS07243,BMG_DS027887,Benign Infantile Myoclonic Epilepsy,UMLS ID:C0751120,,,,,myoclonic epilepsy in infancy,MONDO:0100566,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS07244,BMG_DS027888,Infantile Severe Myoclonic Epilepsy,UMLS ID:C0751122,,,,,Dravet syndrome,MONDO:0100135,"Epilepsies, Myoclonic",MeSH ID:D004831,,,, +BMGC_DS07245,BMG_DS027889,Atonic Absence Seizures,UMLS ID:C0751123,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS07246,BMG_DS027890,"Epilepsy, Absence, Atypical",UMLS ID:C0751124,,,,,,,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy,DOID:0070309,, +BMGC_DS07247,BMG_DS027892,Facial Neuritis,UMLS ID:C0751131,,,,,,,Facial Nerve Diseases,MeSH ID:D005155,,,, +BMGC_DS07248,BMG_DS027893,Familial Facial Neuropathy,UMLS ID:C0751132,,,,,,,Facial Nerve Diseases,MeSH ID:D005155,,,, +BMGC_DS07249,BMG_DS027894,Acquired Facial Neuropathy,UMLS ID:C0751133,,,,,,,Facial Nerve Diseases,MeSH ID:D005155,,,, +BMGC_DS07250,BMG_DS027896,"Fibromyalgia, Primary",UMLS ID:C0751152,,,,,,,Fibromyalgia,MeSH ID:D005356,,,, +BMGC_DS07251,BMG_DS027897,"Fibromyalgia, Secondary",UMLS ID:C0751153,,,,,,,Fibromyalgia,MeSH ID:D005356,,,, +BMGC_DS07252,BMG_DS027898,FRAXA Syndrome,UMLS ID:C0751156,,,,,,,Fragile X Syndrome,MeSH ID:D005600,,,, +BMGC_DS07253,BMG_DS027899,FRAXE Syndrome,UMLS ID:C0751157,,,,,FRAXE intellectual disability,MONDO:0010659,Fragile X Syndrome,MeSH ID:D005600,,,,OMIM ID:309548 +BMGC_DS07254,BMG_DS027900,,UMLS ID:C0751161,,,,,galactose epimerase deficiency,MONDO:0009257,,,galactose epimerase deficiency,DOID:0111458,,OMIM ID:230350 +BMGC_DS07255,BMG_DS027902,Adult Glycogen Storage Disease Type II,UMLS ID:C0751172,,,,,,,Glycogen Storage Disease Type II,MeSH ID:D006009,,,, +BMGC_DS07256,BMG_DS027903,"Glycogen Storage Disease Type II, Infantile",UMLS ID:C0751173,,,,,,,Glycogen Storage Disease Type II,MeSH ID:D006009,,,, +BMGC_DS07257,BMG_DS027904,"Glycogen Storage Disease Type II, Juvenile",UMLS ID:C0751174,,,,,,,Glycogen Storage Disease Type II,MeSH ID:D006009,,,, +BMGC_DS07258,BMG_DS027905,Primary Cough Headache,UMLS ID:C0751185,,,,,,,"Headache Disorders, Primary",MeSH ID:D051270,,,, +BMGC_DS07259,BMG_DS027906,Fulminant Hepatic Failure with Cerebral Edema,UMLS ID:C0751197,,,,,,,Hepatic Encephalopathy,MeSH ID:D006501,,,, +BMGC_DS07260,BMG_DS027907,Hepatic Stupor,UMLS ID:C0751198,,,,,,,Hepatic Encephalopathy,MeSH ID:D006501,,,, +BMGC_DS07261,BMG_DS027908,Cystathionine beta-Synthase Deficiency Disease,UMLS ID:C0751202,,,,,classic homocystinuria,MONDO:0009352,Homocystinuria,MeSH ID:D006712,,,,OMIM ID:236200 +BMGC_DS07262,BMG_DS027913,Akinetic-Rigid Variant of Huntington Disease,UMLS ID:C0751207,,,,,,,Huntington Disease,MeSH ID:D006816,,,, +BMGC_DS07263,BMG_DS027914,Juvenile Huntington Disease,UMLS ID:C0751208,,,,,juvenile Huntington disease,MONDO:0016621,Huntington Disease,MeSH ID:D006816,,,, +BMGC_DS07264,BMG_DS027915,Inappropriate ACTH Secretion Syndrome,UMLS ID:C0751220,,,,,,,Pituitary ACTH Hypersecretion,MeSH ID:D047748,,,, +BMGC_DS07265,BMG_DS027919,"Hypersomnia, Recurrent",UMLS ID:C0751226,,,,,recurrent hypersomnia,MONDO:0004617,Disorders of Excessive Somnolence,MeSH ID:D006970,recurrent hypersomnia,DOID:8619,, +BMGC_DS07266,BMG_DS027920,"Hypersomnolence Disorders, Primary",UMLS ID:C0751227,,,,,,,Disorders of Excessive Somnolence,MeSH ID:D006970,,,, +BMGC_DS07267,BMG_DS027921,"Hypersomnolence Disorders, Secondary",UMLS ID:C0751228,,,,,,,Disorders of Excessive Somnolence,MeSH ID:D006970,,,, +BMGC_DS07268,BMG_DS027922,Hypothalamic Dysfunction Syndromes,UMLS ID:C0751230,,,,,hypothalamic dysfunction,MONDO:0043101,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS07269,BMG_DS027923,Hypothalamic Dysinhibition Syndrome,UMLS ID:C0751231,,,,,,,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS07270,BMG_DS027924,Hypothalamic Overactivity Syndrome,UMLS ID:C0751232,,,,,,,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS07271,BMG_DS027925,Hypothalamic-Adenohypophyseal Disorders,UMLS ID:C0751233,,,,,,,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS07272,BMG_DS027926,Hypothalamic-Neurohypophyseal Disorders,UMLS ID:C0751234,,,,,,,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS07273,BMG_DS027927,Pituitary Diencephalic Syndrome,UMLS ID:C0751235,,,,,,,Hypothalamic Diseases,MeSH ID:D007027,,,, +BMGC_DS07274,BMG_DS027928,Chronic Insomnia,UMLS ID:C0751249,,,,,,,Sleep Initiation and Maintenance Disorders,MeSH ID:D007319,,,, +BMGC_DS07275,BMG_DS027929,Psychophysiological Insomnia,UMLS ID:C0751250,,,,,,,Sleep Initiation and Maintenance Disorders,MeSH ID:D007319,,,, +BMGC_DS07276,BMG_DS027930,Sleep Initiation Dysfunction,UMLS ID:C0751252,,,,,,,Sleep Initiation and Maintenance Disorders,MeSH ID:D007319,,,, +BMGC_DS07277,BMG_DS027931,"Creutzfeldt-Jakob Disease, Familial",UMLS ID:C0751254,,,,,inherited Creutzfeldt-Jakob disease,MONDO:0007403,Creutzfeldt-Jakob Syndrome,MeSH ID:D007562,,,,OMIM ID:123400 +BMGC_DS07278,BMG_DS027933,"Auditory Processing Disorder, Central",UMLS ID:C0751257,,,,,auditory perceptual disorders,MONDO:0024422,Language Development Disorders,MeSH ID:D007805,,,, +BMGC_DS07279,BMG_DS027934,,UMLS ID:C0751265,,,,,learning disability,MONDO:0004681,,,learning disability,DOID:8927,, +BMGC_DS07280,BMG_DS027935,"Encephalopathy, Subacute Necrotizing, Infantile",UMLS ID:C0751267,,,,,,,Leigh Disease,MeSH ID:D007888,,,, +BMGC_DS07281,BMG_DS027936,"Encephalopathy, Subacute Necrotizing, Juvenile",UMLS ID:C0751268,,,,,,,Leigh Disease,MeSH ID:D007888,,,, +BMGC_DS07282,BMG_DS027937,Infantile Globoid Cell Leukodystrophy,UMLS ID:C0751273,,,,,infantile Krabbe disease,MONDO:0016089,"Leukodystrophy, Globoid Cell",MeSH ID:D007965,,,, +BMGC_DS07283,BMG_DS027938,"Metachromatic leukodystrophy, juvenile type",UMLS ID:C0751276,"Metachromatic leukodystrophy, juvenile type | Metachromatic leucodystrophy, juvenile type | Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis | Juvenile metachromatic leucodystrophy | Scholz cerebral sclerosis | Metachromatic leukodystrophy, juvenile type (disorder)",SNOMEDCT ID:44359008,,,"metachromatic leukodystrophy, juvenile form",MONDO:0009591,,,,,,OMIM ID:250100 +BMGC_DS07284,BMG_DS027939,"Metachromatic Leukodystrophy, Infant",UMLS ID:C0751278,,,,,"metachromatic leukodystrophy, late infantile form",MONDO:0017729,"Leukodystrophy, Metachromatic",MeSH ID:D007966,,,, +BMGC_DS07285,BMG_DS027940,"Leukodystrophy, Metachromatic, Adult",UMLS ID:C0751279,,,,,"metachromatic leukodystrophy, adult form",MONDO:0017730,"Leukodystrophy, Metachromatic",MeSH ID:D007966,,,, +BMGC_DS07286,BMG_DS027942,"Maple Syrup Urine Disease, Thiamine Responsive",UMLS ID:C0751285,,,,,thiamine-responsive maple syrup urine disease,MONDO:0017054,Maple Syrup Urine Disease,MeSH ID:D008375,,,, +BMGC_DS07287,BMG_DS027943,,UMLS ID:C0751291,,,,,desmoplastic/nodular medulloblastoma,MONDO:0016711,,,,,, +BMGC_DS07288,BMG_DS027944,,UMLS ID:C0751303,,,,,cerebral convexity meningioma,MONDO:0003774,,,cerebral convexity meningioma,DOID:6114,, +BMGC_DS07289,BMG_DS027945,,UMLS ID:C0751304,,,,,parasagittal meningioma,MONDO:0004022,,,parasagittal meningioma,DOID:6869,, +BMGC_DS07290,BMG_DS027946,"Meningitis, Haemophilus parainfluenzae",UMLS ID:C0751307,,,,,,,"Meningitis, Haemophilus",MeSH ID:D008583,haemophilus meningitis,DOID:0080179,, +BMGC_DS07291,BMG_DS027947,"Meningitis, Haemophilus influenzae Type F",UMLS ID:C0751308,,,,,,,"Meningitis, Haemophilus",MeSH ID:D008583,haemophilus meningitis,DOID:0080179,, +BMGC_DS07292,BMG_DS027948,"Meningitis, Pneumococcal, Penicillin-Resistant",UMLS ID:C0751313,,,,,,,"Meningitis, Pneumococcal",MeSH ID:D008586,,,, +BMGC_DS07293,BMG_DS027949,,UMLS ID:C0751316,,,,,,,,,myelomeningocele,DOID:0060326,, +BMGC_DS07294,BMG_DS027950,"Moyamoya Disease, Primary",UMLS ID:C0751322,,,,,,,Moyamoya Disease,MeSH ID:D009072,,,, +BMGC_DS07295,BMG_DS027951,"Moyamoya Disease, Secondary",UMLS ID:C0751323,,,,,,,Moyamoya Disease,MeSH ID:D009072,,,, +BMGC_DS07296,BMG_DS027952,"Multiple Sclerosis, Acute Fulminating",UMLS ID:C0751324,,,,,,,Multiple Sclerosis,MeSH ID:D009103,,,, +BMGC_DS07297,BMG_DS027953,Progressive Proximal Myelopathic Muscular Atrophy,UMLS ID:C0751334,,,,,,,"Muscular Atrophy, Spinal",MeSH ID:D009134,,,, +BMGC_DS07298,BMG_DS027954,Scapuloperoneal Form of Spinal Muscular Atrophy,UMLS ID:C0751335,,,,,"scapuloperoneal spinal muscular atrophy, autosomal dominant",MONDO:0008408,"Muscular Atrophy, Spinal",MeSH ID:D009134,scapuloperoneal spinal muscular atrophy,DOID:0111552,,OMIM ID:181405 +BMGC_DS07299,BMG_DS027955,Distal Muscular Dystrophies,UMLS ID:C0751336,,,,,distal myopathy,MONDO:0018949,Distal Myopathies,MeSH ID:D049310,distal myopathy,DOID:11720,, +BMGC_DS07300,BMG_DS027956,X-Linked Emery-Dreifuss Muscular Dystrophy,UMLS ID:C0751337,,,,,X-linked Emery-Dreifuss muscular dystrophy,MONDO:0010680,X-Linked Emery-Dreifuss Muscular Dystrophy,MeSH ID:D000083143,,,, +BMGC_DS07301,BMG_DS027957,"Myasthenia Gravis, Generalized",UMLS ID:C0751339,,,,,,,Myasthenia Gravis,MeSH ID:D009157,,,, +BMGC_DS07302,BMG_DS027958,"Myasthenia Gravis, Ocular",UMLS ID:C0751340,,,,,,,Myasthenia Gravis,MeSH ID:D009157,,,, +BMGC_DS07303,BMG_DS027960,"Myelitis, Paraneoplastic",UMLS ID:C0751342,,,,,,,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS07304,BMG_DS027961,"Myelitis, Postinfectious",UMLS ID:C0751343,,,,,,,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS07305,BMG_DS027962,"Myelitis, Postvaccinal",UMLS ID:C0751344,,,,,,,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS07306,BMG_DS027963,"Myelitis, Subacute Transverse",UMLS ID:C0751345,,,,,,,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS07307,BMG_DS027964,Demyelinative Myelitis,UMLS ID:C0751346,,,,,,,"Myelitis, Transverse",MeSH ID:D009188,,,, +BMGC_DS07308,BMG_DS027965,"Myoclonus, Eyelid",UMLS ID:C0751349,,,,,,,Myoclonus,MeSH ID:D009207,,,, +BMGC_DS07309,BMG_DS027966,Idiopathic Inflammatory Myopathies,UMLS ID:C0751356,,,,,idiopathic inflammatory myopathy,MONDO:0600023,Myositis,MeSH ID:D009220,,,, +BMGC_DS07310,BMG_DS027967,"Myositis, Focal",UMLS ID:C0751357,,,,,,,Myositis,MeSH ID:D009220,,,, +BMGC_DS07311,BMG_DS027968,Becker Generalized Myotonia,UMLS ID:C0751360,,,,,"Thomsen and Becker disease | myotonia congenita, autosomal recessive",MONDO:0009715;MONDO:0009710,Myotonia Congenita,MeSH ID:D009224,,,,OMIM ID:255700 +BMGC_DS07312,BMG_DS027969,Narcolepsy-Cataplexy Syndrome,UMLS ID:C0751362,,,,,narcolepsy-cataplexy syndrome,MONDO:0016158,Narcolepsy,MeSH ID:D009290,,,, +BMGC_DS07313,BMG_DS027970,External Nerve Compression Syndromes,UMLS ID:C0751367,,,,,,,Nerve Compression Syndromes,MeSH ID:D009408,,,, +BMGC_DS07314,BMG_DS027971,Internal Nerve Compression Syndromes,UMLS ID:C0751368,,,,,,,Nerve Compression Syndromes,MeSH ID:D009408,,,, +BMGC_DS07315,BMG_DS027972,Neuroleptic-Induced Neuroleptic Malignant Syndrome,UMLS ID:C0751376,,,,,,,Neuroleptic Malignant Syndrome,MeSH ID:D009459,,,, +BMGC_DS07316,BMG_DS027973,Foley-Denny-Brown Syndrome,UMLS ID:C0751381,,,,,Cramp-fasciculation syndrome,MONDO:0035586,Neuromuscular Diseases,MeSH ID:D009468,,,, +BMGC_DS07317,BMG_DS027974,Juvenile Neuronal Ceroid Lipofuscinosis,UMLS ID:C0751383,,,,,neuronal ceroid lipofuscinosis 3,MONDO:0008767,Neuronal Ceroid-Lipofuscinoses,MeSH ID:D009472,,,,OMIM ID:204200 +BMGC_DS07318,BMG_DS027975,,UMLS ID:C0751396,,,,,,,,,oligodendroglioma,DOID:3181,, +BMGC_DS07319,BMG_DS027979,Optic Disk Disorders,UMLS ID:C0751402,,,,,,,Optic Nerve Diseases,MeSH ID:D009901,,,, +BMGC_DS07320,BMG_DS027980,Post-Traumatic Osteoporosis,UMLS ID:C0751406,,,,,,,Osteoporosis,MeSH ID:D010024,,,, +BMGC_DS07321,BMG_DS027982,"Parkinson Disease, Secondary Vascular",UMLS ID:C0751414,,,,,,,"Parkinson Disease, Secondary",MeSH ID:D010302,,,, +BMGC_DS07322,BMG_DS027983,Atherosclerotic Parkinsonism,UMLS ID:C0751415,,,,,,,"Parkinson Disease, Secondary",MeSH ID:D010302,,,, +BMGC_DS07323,BMG_DS027984,Hereditary Autoinflammatory Diseases,UMLS ID:C0751422,,,,,hereditary periodic fever syndrome,MONDO:0017953,Hereditary Autoinflammatory Diseases,MeSH ID:D056660,,,, +BMGC_DS07324,BMG_DS027987,Classical phenylketonuria,UMLS ID:C0751434,"Classical phenylketonuria | Imbecilitus phenylpyruvica | Hyperphenylalaninemia, type I | Severe phenylalanine hydroxylase deficiency | Hyperphenylalaninaemia, type I | Classical phenylketonuria (disorder)",SNOMEDCT ID:7573000,Classical phenylketonuria,ICD11 ID:5C50.00,classic phenylketonuria,MONDO:0019259,,,,,ICD10 ID:E70.0, +BMGC_DS07325,BMG_DS027988,Hyperphenylalaninaemia,UMLS ID:C0751435,Hyperphenylalaninemia | Hyperphenylalaninaemia | Hyperphenylalaninemia (disorder),SNOMEDCT ID:68528007,,,,,Phenylketonurias,MeSH ID:D010661,,,, +BMGC_DS07326,BMG_DS027989,"Hyperphenylalaninemia, Non-Phenylketonuric",UMLS ID:C0751436,,,,,hyperphenylalaninemia due to tetrahydrobiopterin deficiency,MONDO:0016543,Phenylketonurias,MeSH ID:D010661,,,, +BMGC_DS07327,BMG_DS027990,Adenohypophyseal Diseases,UMLS ID:C0751437,,,,,anterior pituitary gland disorder,MONDO:0024468,Pituitary Diseases,MeSH ID:D010900,,,, +BMGC_DS07328,BMG_DS027994,"Encephalitis, Polio",UMLS ID:C0751445,,,,,,,Poliomyelitis,MeSH ID:D011051,,,, +BMGC_DS07329,BMG_DS027995,"Poliomyelitis, Nonpoliovirus",UMLS ID:C0751446,,,,,,,Poliomyelitis,MeSH ID:D011051,,,, +BMGC_DS07330,BMG_DS027996,"Poliomyelitis, Preparalytic",UMLS ID:C0751447,,,,,,,Poliomyelitis,MeSH ID:D011051,,,, +BMGC_DS07331,BMG_DS027997,"Polyneuropathy, Familial",UMLS ID:C0751448,,,,,,,Polyneuropathies,MeSH ID:D011115,,,, +BMGC_DS07332,BMG_DS027998,Acquired Polyneuropathy,UMLS ID:C0751449,,,,,,,Polyneuropathies,MeSH ID:D011115,,,, +BMGC_DS07333,BMG_DS028000,Flaccid Quadriplegia,UMLS ID:C0751460,,,,,,,Quadriplegia,MeSH ID:D011782,,,, +BMGC_DS07334,BMG_DS028001,"Paralysis, Spinal, Quadriplegic",UMLS ID:C0751461,,,,,,,Quadriplegia,MeSH ID:D011782,,,, +BMGC_DS07335,BMG_DS028002,Nerve Root Compression,UMLS ID:C0751463,,,,,,,Radiculopathy,MeSH ID:D011843,,,, +BMGC_DS07336,BMG_DS028003,,UMLS ID:C0751483,,,,,hereditary retinoblastoma,MONDO:0018160,,,familial retinoblastoma,DOID:4648,,OMIM ID:180200 +BMGC_DS07337,BMG_DS028004,"Reye Syndrome, Adult",UMLS ID:C0751485,,,,,,,Reye Syndrome,MeSH ID:D012202,,,, +BMGC_DS07338,BMG_DS028005,Reye-Like Syndrome,UMLS ID:C0751486,,,,,,,Reye Syndrome,MeSH ID:D012202,,,, +BMGC_DS07339,BMG_DS028006,Adult Sandhoff Disease,UMLS ID:C0751489,,,,,"Sandhoff disease, adult form",MONDO:0017723,Sandhoff Disease,MeSH ID:D012497,,,, +BMGC_DS07340,BMG_DS028007,Infantile Sandhoff Disease,UMLS ID:C0751490,,,,,"Sandhoff disease, infantile form",MONDO:0017721,Sandhoff Disease,MeSH ID:D012497,,,, +BMGC_DS07341,BMG_DS028008,Juvenile Sandhoff Disease,UMLS ID:C0751491,,,,,"Sandhoff disease, juvenile form",MONDO:0017722,Sandhoff Disease,MeSH ID:D012497,,,, +BMGC_DS07342,BMG_DS028009,"Seizures, Focal",UMLS ID:C0751495,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS07343,BMG_DS028010,Special Senses Disorders,UMLS ID:C0751497,,,,,,,Sensation Disorders,MeSH ID:D012678,,,, +BMGC_DS07344,BMG_DS028011,Petrous Sinus Thrombophlebitis,UMLS ID:C0751500,,,,,,,"Sinus Thrombosis, Intracranial",MeSH ID:D012851,,,, +BMGC_DS07345,BMG_DS028012,Intracranial Sinus Thrombophlebitis,UMLS ID:C0751501,,,,,,,"Sinus Thrombosis, Intracranial",MeSH ID:D012851,,,, +BMGC_DS07346,BMG_DS028013,Petrous Sinus Thrombosis,UMLS ID:C0751502,,,,,,,"Sinus Thrombosis, Intracranial",MeSH ID:D012851,,,, +BMGC_DS07347,BMG_DS028014,Insufficient Sleep Syndrome,UMLS ID:C0751505,,,,,,,Sleep Deprivation,MeSH ID:D012892,,,, +BMGC_DS07348,BMG_DS028015,REM Sleep Deprivation,UMLS ID:C0751506,,,,,,,Sleep Deprivation,MeSH ID:D012892,,,, +BMGC_DS07349,BMG_DS028016,Sleep-Related Neurogenic Tachypnea,UMLS ID:C0751510,,,,,obsolete rare sleep disorder,MONDO:0019045,Sleep Wake Disorders,MeSH ID:D012893,,,, +BMGC_DS07350,BMG_DS028017,Verbal Fluency Disorders,UMLS ID:C0751514,,,,,,,Speech Disorders,MeSH ID:D013064,,,, +BMGC_DS07351,BMG_DS028018,"Status Epilepticus, Subclinical",UMLS ID:C0751522,,,,,,,Status Epilepticus,MeSH ID:D013226,,,, +BMGC_DS07352,BMG_DS028019,Non-Convulsive Status Epilepticus,UMLS ID:C0751523,,,,,,,Status Epilepticus,MeSH ID:D013226,,,, +BMGC_DS07353,BMG_DS028020,Simple Partial Status Epilepticus,UMLS ID:C0751524,,,,,,,Status Epilepticus,MeSH ID:D013226,,,, +BMGC_DS07354,BMG_DS028021,Convergent Comitant Strabismus,UMLS ID:C0751525,,,,,,,Strabismus,MeSH ID:D013285,,,, +BMGC_DS07355,BMG_DS028022,"Strabismus, Noncomitant",UMLS ID:C0751526,,,,,,,Strabismus,MeSH ID:D013285,,,, +BMGC_DS07356,BMG_DS028023,,UMLS ID:C0751527,,,,,,,,,stuttering,DOID:0060243,, +BMGC_DS07357,BMG_DS028024,,UMLS ID:C0751528,,,,,,,,,stuttering,DOID:0060243,, +BMGC_DS07358,BMG_DS028025,,UMLS ID:C0751529,,,,,,,,,stuttering,DOID:0060243,, +BMGC_DS07359,BMG_DS028029,"Syncope, Deglutitional",UMLS ID:C0751537,,,,,,,Syncope,MeSH ID:D013575,,,, +BMGC_DS07360,BMG_DS028030,"Syncope, Hyperventilation",UMLS ID:C0751538,,,,,,,Syncope,MeSH ID:D013575,,,, +BMGC_DS07361,BMG_DS028031,"Syncope, Stokes-Adams",UMLS ID:C0751539,,,,,,,Syncope,MeSH ID:D013575,,,, +BMGC_DS07362,BMG_DS028034,Tangier Disease Neuropathy,UMLS ID:C0751544,,,,,,,Tangier Disease,MeSH ID:D013631,,,, +BMGC_DS07363,BMG_DS028035,Giant Cell Aortic Arteritis,UMLS ID:C0751545,,,,,,,Giant Cell Arteritis,MeSH ID:D013700,,,, +BMGC_DS07364,BMG_DS028036,Juvenile Temporal Arteritis,UMLS ID:C0751547,,,,,juvenile temporal arteritis,MONDO:0016848,Giant Cell Arteritis,MeSH ID:D013700,,,, +BMGC_DS07365,BMG_DS028040,,UMLS ID:C0751552,,,,,thymus cancer,MONDO:0002586,,,thymus cancer,DOID:3277,, +BMGC_DS07366,BMG_DS028041,Childhood Tic Disorders,UMLS ID:C0751553,,,,,,,Tic Disorders,MeSH ID:D013981,,,, +BMGC_DS07367,BMG_DS028042,Motor Tic Disorders,UMLS ID:C0751554,,,,,,,Tic Disorders,MeSH ID:D013981,,,, +BMGC_DS07368,BMG_DS028043,Pulsatile Tinnitus,UMLS ID:C0751559,,,,,,,Tinnitus,MeSH ID:D014012,,,, +BMGC_DS07369,BMG_DS028044,,UMLS ID:C0751560,,,,,tonsil cancer,MONDO:0006998,,,tonsil cancer,DOID:8858,, +BMGC_DS07370,BMG_DS028047,Vertebrobasilar Dolichoectasia,UMLS ID:C0751572,,,,,,,Vertebrobasilar Insufficiency,MeSH ID:D014715,,,, +BMGC_DS07371,BMG_DS028051,"Encephalitis, West Nile Fever",UMLS ID:C0751583,,,,,West-Nile encephalitis,MONDO:0019376,West Nile Fever,MeSH ID:D014901,West Nile encephalitis,DOID:2365,, +BMGC_DS07372,BMG_DS028052,West Nile Fever Meningitis,UMLS ID:C0751584,,,,,,,West Nile Fever,MeSH ID:D014901,,,, +BMGC_DS07373,BMG_DS028053,West Nile Fever Meningoencephalitis,UMLS ID:C0751585,,,,,,,West Nile Fever,MeSH ID:D014901,,,, +BMGC_DS07374,BMG_DS028054,West Nile Fever Myelitis,UMLS ID:C0751586,,,,,,,West Nile Fever,MeSH ID:D014901,,,, +BMGC_DS07375,BMG_DS028055,,UMLS ID:C0751587,,,,,cerebral arteriopathy with subcortical infarcts and leukoencephalopathy,MONDO:0007432,,,CADASIL,DOID:13945,, +BMGC_DS07376,BMG_DS028056,,UMLS ID:C0751589,,,,,supratentorial cancer,MONDO:0002071,,,supratentorial cancer,DOID:1659,, +BMGC_DS07377,BMG_DS028057,,UMLS ID:C0751593,,,,,infratentorial cancer,MONDO:0003107,,,infratentorial cancer,DOID:4706,, +BMGC_DS07378,BMG_DS028058,Zellweger-Like Syndrome,UMLS ID:C0751594,,,,,,,Zellweger Syndrome,MeSH ID:D015211,,,, +BMGC_DS07379,BMG_DS028059,Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease,UMLS ID:C0751595,,,,,,,Pyruvate Dehydrogenase Complex Deficiency Disease,MeSH ID:D015325,,,, +BMGC_DS07380,BMG_DS028060,"Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",UMLS ID:C0751596,,,,,,,Pyruvate Dehydrogenase Complex Deficiency Disease,MeSH ID:D015325,,,, +BMGC_DS07381,BMG_DS028061,"Ataxia with Lactic Acidosis, Type I",UMLS ID:C0751597,,,,,,,Pyruvate Dehydrogenase Complex Deficiency Disease,MeSH ID:D015325,,,, +BMGC_DS07382,BMG_DS028062,Hereditary Autosomal Dominant Spastic Paraplegia,UMLS ID:C0751602,,,,,,,"Spastic Paraplegia, Hereditary",MeSH ID:D015419,,,, +BMGC_DS07383,BMG_DS028063,Autosomal Recessive Hereditary Spastic Paraplegia,UMLS ID:C0751603,,,,,,,"Spastic Paraplegia, Hereditary",MeSH ID:D015419,,,, +BMGC_DS07384,BMG_DS028064,Hereditary X-Linked Recessive Spastic Paraplegia,UMLS ID:C0751604,,,,,,,"Spastic Paraplegia, Hereditary",MeSH ID:D015419,,,, +BMGC_DS07385,BMG_DS028065,"X-Linked, Spastic Paraplegia, Hereditary",UMLS ID:C0751605,,,,,,,"Spastic Paraplegia, Hereditary",MeSH ID:D015419,,,, +BMGC_DS07386,BMG_DS028066,,UMLS ID:C0751606,,,,,adult acute lymphoblastic leukemia,MONDO:0003541,,,adult acute lymphocytic leukemia,DOID:5604,, +BMGC_DS07387,BMG_DS028068,"Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",UMLS ID:C0751622,,,,,,,Eosinophilia-Myalgia Syndrome,MeSH ID:D016603,,,, +BMGC_DS07388,BMG_DS028070,"Toxoplasmosis, Central Nervous System",UMLS ID:C0751629,,,,,,,"Toxoplasmosis, Cerebral",MeSH ID:D016781,,,, +BMGC_DS07389,BMG_DS028071,Intracranial Toxoplasmosis,UMLS ID:C0751630,,,,,,,"Toxoplasmosis, Cerebral",MeSH ID:D016781,,,, +BMGC_DS07390,BMG_DS028072,Neurotoxoplasmosis,UMLS ID:C0751631,,,,,,,"Toxoplasmosis, Cerebral",MeSH ID:D016781,,,, +BMGC_DS07391,BMG_DS028073,Common Carotid Artery Stenosis,UMLS ID:C0751635,,,,,,,Carotid Stenosis,MeSH ID:D016893,,,, +BMGC_DS07392,BMG_DS028074,External Carotid Artery Stenosis,UMLS ID:C0751636,,,,,,,Carotid Stenosis,MeSH ID:D016893,,,, +BMGC_DS07393,BMG_DS028075,Granulomous Cerebral Cryptococcosis,UMLS ID:C0751637,,,,,,,"Meningitis, Cryptococcal",MeSH ID:D016919,Cryptococcal meningitis,DOID:0080159,, +BMGC_DS07394,BMG_DS028077,Cryptogenic Partial Complex Epilepsy,UMLS ID:C0751640,,,,,,,"Epilepsy, Complex Partial",MeSH ID:D017029,,,, +BMGC_DS07395,BMG_DS028078,"Epilepsy, Symptomatic, Partial Complex",UMLS ID:C0751641,,,,,,,"Epilepsy, Complex Partial",MeSH ID:D017029,,,, +BMGC_DS07396,BMG_DS028079,"Epilepsy, Anterior Fronto-Polar",UMLS ID:C0751642,,,,,,,"Epilepsy, Frontal Lobe",MeSH ID:D017034,,,, +BMGC_DS07397,BMG_DS028080,"Epilepsy, Orbito-Frontal",UMLS ID:C0751643,,,,,,,"Epilepsy, Frontal Lobe",MeSH ID:D017034,,,, +BMGC_DS07398,BMG_DS028081,"Human Transmissible Spongiform Encephalopathies, Inherited",UMLS ID:C0751645,,,,,,,Prion Diseases,MeSH ID:D017096,,,, +BMGC_DS07399,BMG_DS028082,Pseudoakathisia,UMLS ID:C0751647,,,,,,,"Akathisia, Drug-Induced",MeSH ID:D017109,,,, +BMGC_DS07400,BMG_DS028083,Mitochondrial Diseases,UMLS ID:C0751651,,,,,mitochondrial disease,MONDO:0044970,Mitochondrial Diseases,MeSH ID:D028361,mitochondrial metabolism disease,DOID:700,, +BMGC_DS07401,BMG_DS028088,"Amyloid Neuropathy, Secondary",UMLS ID:C0751660,,,,,,,Amyloid Neuropathies,MeSH ID:D017772,,,, +BMGC_DS07402,BMG_DS028089,"Canavan Disease, Familial Form",UMLS ID:C0751663,,,,,,,Canavan Disease,MeSH ID:D017825,,,, +BMGC_DS07403,BMG_DS028090,"Canavan Disease, Neonatal",UMLS ID:C0751664,,,,,,,Canavan Disease,MeSH ID:D017825,,,, +BMGC_DS07404,BMG_DS028091,"Canavan Disease, Sporadic Form",UMLS ID:C0751665,,,,,,,Canavan Disease,MeSH ID:D017825,,,, +BMGC_DS07405,BMG_DS028092,"Canavan Disease, Infantile",UMLS ID:C0751666,,,,,,,Canavan Disease,MeSH ID:D017825,,,, +BMGC_DS07406,BMG_DS028093,"Canavan Disease, Juvenile",UMLS ID:C0751667,,,,,,,Canavan Disease,MeSH ID:D017825,,,, +BMGC_DS07407,BMG_DS028094,Machado-Joseph Disease Type I,UMLS ID:C0751668,,,,,Machado-Joseph disease type 1,MONDO:0017174,Machado-Joseph Disease,MeSH ID:D017827,,,, +BMGC_DS07408,BMG_DS028095,Machado-Joseph Disease Type II,UMLS ID:C0751669,,,,,Machado-Joseph disease type 2,MONDO:0017175,Machado-Joseph Disease,MeSH ID:D017827,,,, +BMGC_DS07409,BMG_DS028096,Machado-Joseph Disease Type III,UMLS ID:C0751670,,,,,Machado-Joseph disease type 3,MONDO:0017176,Machado-Joseph Disease,MeSH ID:D017827,,,, +BMGC_DS07410,BMG_DS028097,Machado-Joseph Disease Type IV,UMLS ID:C0751671,,,,,,,Machado-Joseph Disease,MeSH ID:D017827,,,, +BMGC_DS07411,BMG_DS028098,,UMLS ID:C0751674,,,,,lymphangioleiomyomatosis,MONDO:0011705,,,,,,OMIM ID:606690 +BMGC_DS07412,BMG_DS028099,,UMLS ID:C0751675,,,,,cerebral primitive neuroectodermal tumor,MONDO:0004209,,,cerebral primitive neuroectodermal tumor,DOID:7398,, +BMGC_DS07413,BMG_DS028100,,UMLS ID:C0751688,,,,,,,,,squamous cell carcinoma,DOID:1749,, +BMGC_DS07414,BMG_DS028101,,UMLS ID:C0751689,,,,,,,,,peripheral nerve sheath neoplasm,DOID:3193,, +BMGC_DS07415,BMG_DS028102,,UMLS ID:C0751690,,,,,malignant peripheral nerve sheath tumor,MONDO:0017827,,,malignant peripheral nerve sheath tumor,DOID:5940,, +BMGC_DS07416,BMG_DS028103,,UMLS ID:C0751691,,,,,perineurioma,MONDO:0019404,,,perineurioma,DOID:4697,, +BMGC_DS07417,BMG_DS028104,Brown-Sequard's Paralysis,UMLS ID:C0751693,,,,,,,Brown-Sequard Syndrome,MeSH ID:D018437,,,, +BMGC_DS07418,BMG_DS028105,Spastic Spinal Monoplegia Syndrome,UMLS ID:C0751694,,,,,,,Brown-Sequard Syndrome,MeSH ID:D018437,,,, +BMGC_DS07419,BMG_DS028112,Tension-Vascular Headache,UMLS ID:C0751705,,,,,,,Tension-Type Headache,MeSH ID:D018781,,,, +BMGC_DS07420,BMG_DS028113,,UMLS ID:C0751706,,,,,progressive non-fluent aphasia,MONDO:0015059,,,,,, +BMGC_DS07421,BMG_DS028114,"Peroxisomal Dysfunction, General",UMLS ID:C0751708,,,,,,,Peroxisomal Disorders,MeSH ID:D018901,,,, +BMGC_DS07422,BMG_DS028115,"Peroxisomal Dysfunction, Multiple",UMLS ID:C0751709,,,,,,,Peroxisomal Disorders,MeSH ID:D018901,,,, +BMGC_DS07423,BMG_DS028116,"Peroxisomal Dysfunction, Single",UMLS ID:C0751710,,,,,,,Peroxisomal Disorders,MeSH ID:D018901,,,, +BMGC_DS07424,BMG_DS028117,Anterior Ischemic Optic Neuropathy,UMLS ID:C0751711,,,,,anterior ischemic optic neuropathy,MONDO:0006649,"Optic Neuropathy, Ischemic",MeSH ID:D018917,,,, +BMGC_DS07425,BMG_DS028118,Posterior Ischemic Optic Neuropathy,UMLS ID:C0751712,,,,,,,"Optic Neuropathy, Ischemic",MeSH ID:D018917,,,, +BMGC_DS07426,BMG_DS028119,"Inclusion Body Myopathy, Sporadic",UMLS ID:C0751713,,,,,,,"Myositis, Inclusion Body",MeSH ID:D018979,,,, +BMGC_DS07427,BMG_DS028120,Adult Neuroaxonal Dystrophy,UMLS ID:C0751716,,,,,,,Neuroaxonal Dystrophies,MeSH ID:D019150,,,, +BMGC_DS07428,BMG_DS028121,Juvenile Neuroaxonal Dystrophy,UMLS ID:C0751717,,,,,,,Neuroaxonal Dystrophies,MeSH ID:D019150,,,, +BMGC_DS07429,BMG_DS028122,Late Infantile Neuroaxonal Dystrophy,UMLS ID:C0751718,,,,,,,Neuroaxonal Dystrophies,MeSH ID:D019150,,,, +BMGC_DS07430,BMG_DS028126,"Blindness, Cortical, Post-Ictal",UMLS ID:C0751729,,,,,,,"Blindness, Cortical",MeSH ID:D019575,,,, +BMGC_DS07431,BMG_DS028127,Anton Syndrome,UMLS ID:C0751730,,,,,,,"Blindness, Cortical",MeSH ID:D019575,,,, +BMGC_DS07432,BMG_DS028130,"Degenerative Diseases, Spinal Cord",UMLS ID:C0751733,,,,,,,Neurodegenerative Diseases,MeSH ID:D019636,,,, +BMGC_DS07433,BMG_DS028132,Basal Ganglia Cerebrovascular Disease,UMLS ID:C0751739,,,,,basal ganglia cerebrovascular disorder,MONDO:0006505,Basal Ganglia Cerebrovascular Disease,MeSH ID:D020144,basal ganglia cerebrovascular disease,DOID:10991,, +BMGC_DS07434,BMG_DS028133,Lenticulostriate Vasculopathy,UMLS ID:C0751740,,,,,,,Basal Ganglia Cerebrovascular Disease,MeSH ID:D020144,,,, +BMGC_DS07435,BMG_DS028134,"Metabolic Disorder, Central Nervous System, Acquired",UMLS ID:C0751743,,,,,,,"Brain Diseases, Metabolic",MeSH ID:D001928,,,, +BMGC_DS07436,BMG_DS028135,"Brain Diseases, Metabolic, Acquired",UMLS ID:C0751744,,,,,,,"Brain Diseases, Metabolic",MeSH ID:D001928,,,, +BMGC_DS07437,BMG_DS028137,"Hyperglycinemia, Nonketotic, Type III",UMLS ID:C0751747,,,,,,,"Hyperglycinemia, Nonketotic",MeSH ID:D020158,,,, +BMGC_DS07438,BMG_DS028138,Nonketotic Hyperglycinemia,UMLS ID:C0751748,,,,,glycine encephalopathy,MONDO:0011612,"Hyperglycinemia, Nonketotic",MeSH ID:D020158,glycine encephalopathy,DOID:9268,, +BMGC_DS07439,BMG_DS028139,"Argininosuccinic Acid Synthetase Deficiency Disease, Partial",UMLS ID:C0751750,,,,,,,Citrullinemia,MeSH ID:D020159,,,, +BMGC_DS07440,BMG_DS028140,"Argininosuccinic Acid Synthetase Deficiency, Complete",UMLS ID:C0751751,,,,,,,Citrullinemia,MeSH ID:D020159,,,, +BMGC_DS07441,BMG_DS028141,Carbamoyl-Phosphate Synthase I Deficiency Disease,UMLS ID:C0751753,,,,,,,Carbamoyl-Phosphate Synthase I Deficiency Disease,MeSH ID:D020165,carbamoyl phosphate synthetase I deficiency disease,DOID:9280,, +BMGC_DS07442,BMG_DS028143,Advanced Sleep Phase Syndrome,UMLS ID:C0751758,,,,,"circadian rhythm sleep disorder, advanced sleep phase type",MONDO:0024378,"Sleep Disorders, Circadian Rhythm",MeSH ID:D020178,,,, +BMGC_DS07443,BMG_DS028145,Upper Airway Resistance Sleep Apnea Syndrome,UMLS ID:C0751761,,,,,,,"Sleep Apnea, Obstructive",MeSH ID:D020181,,,, +BMGC_DS07444,BMG_DS028146,"Central Sleep Apnea, Primary",UMLS ID:C0751762,,,,,primary central sleep apnea syndrome,MONDO:0024356,"Sleep Apnea, Central",MeSH ID:D020182,,,, +BMGC_DS07445,BMG_DS028147,"Central Sleep Apnea, Secondary",UMLS ID:C0751763,,,,,,,"Sleep Apnea, Central",MeSH ID:D020182,,,, +BMGC_DS07446,BMG_DS028151,,UMLS ID:C0751772,,,,,REM sleep behavior disorder,MONDO:0005937,,,REM sleep behavior disorder,DOID:9091,, +BMGC_DS07447,BMG_DS028152,Nocturnal Myoclonus Syndrome,UMLS ID:C0751774,,,,,periodic limb movement disorder,MONDO:0005905,Nocturnal Myoclonus Syndrome,MeSH ID:D020189,periodic limb movement disorder,DOID:9207,, +BMGC_DS07448,BMG_DS028153,Atypical Inclusion-Body Disease,UMLS ID:C0751776,,,,,,,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,,,, +BMGC_DS07449,BMG_DS028154,Familial Progressive Myoclonic Epilepsy,UMLS ID:C0751777,,,,,,,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,,,, +BMGC_DS07450,BMG_DS028155,"Myoclonic Epilepsies, Progressive",UMLS ID:C0751778,,,,,progressive myoclonus epilepsy,MONDO:0020074,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,progressive myoclonus epilepsy,DOID:891,, +BMGC_DS07451,BMG_DS028156,Action Myoclonus-Renal Failure Syndrome,UMLS ID:C0751779,,,,,action myoclonus-renal failure syndrome,MONDO:0009699,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,progressive myoclonus epilepsy 4,DOID:0111444,,OMIM ID:254900 +BMGC_DS07452,BMG_DS028157,Biotin-Responsive Encephalopathy,UMLS ID:C0751780,,,,,,,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,,,, +BMGC_DS07453,BMG_DS028158,Dentatorubral-Pallidoluysian Atrophy,UMLS ID:C0751781,,,,,dentatorubral-pallidoluysian atrophy,MONDO:0007435,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,dentatorubral-pallidoluysian atrophy,DOID:0060162,,OMIM ID:125370 +BMGC_DS07454,BMG_DS028159,May-White Syndrome,UMLS ID:C0751782,,,,,,,"Myoclonic Epilepsies, Progressive",MeSH ID:D020191,,,, +BMGC_DS07455,BMG_DS028160,Lafora Disease,UMLS ID:C0751783,,,,,Lafora disease,MONDO:0009697,Lafora Disease,MeSH ID:D020192,Lafora disease,DOID:3534,, +BMGC_DS07456,BMG_DS028161,"Lafora Body Disease, Late Onset",UMLS ID:C0751784,,,,,,,Lafora Disease,MeSH ID:D020192,,,, +BMGC_DS07457,BMG_DS028162,Unverricht-Lundborg Syndrome,UMLS ID:C0751785,,,,,Unverricht-Lundborg syndrome,MONDO:0009698,Unverricht-Lundborg Syndrome,MeSH ID:D020194,Unverricht-Lundborg syndrome,DOID:3535,,OMIM ID:254800 +BMGC_DS07458,BMG_DS028163,Decision Making Reflex Epilepsy,UMLS ID:C0751786,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS07459,BMG_DS028164,"Reflex Epilepsy, Eating-Induced",UMLS ID:C0751787,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS07460,BMG_DS028165,"Reflex Epilepsy, Visual Pattern",UMLS ID:C0751788,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS07461,BMG_DS028166,Tactile Reflex Epilepsy,UMLS ID:C0751789,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS07462,BMG_DS028167,Writing-Induced Reflex Epilepsy,UMLS ID:C0751790,,,,,,,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS07463,BMG_DS028168,"Reflex Epilepsy, Audiogenic",UMLS ID:C0751791,,,,,audiogenic seizures,MONDO:0015644,"Epilepsy, Reflex",MeSH ID:D020195,,,, +BMGC_DS07464,BMG_DS028169,"Coma, Post-Traumatic, Prolonged",UMLS ID:C0751812,,,,,,,"Coma, Post-Head Injury",MeSH ID:D020207,,,, +BMGC_DS07465,BMG_DS028170,"Carotid Artery, Internal, Dissection",UMLS ID:C0751815,,,,,,,"Carotid Artery, Internal, Dissection",MeSH ID:D020215,,,, +BMGC_DS07466,BMG_DS028173,"Septic Phlebitis, Sagittal Sinus",UMLS ID:C0751823,,,,,,,Sagittal Sinus Thrombosis,MeSH ID:D020225,,,, +BMGC_DS07467,BMG_DS028174,Sagittal Sinus Thrombophlebitis,UMLS ID:C0751824,,,,,,,Sagittal Sinus Thrombosis,MeSH ID:D020225,,,, +BMGC_DS07468,BMG_DS028175,"Septic Phlebitis, Cavernous Sinus",UMLS ID:C0751825,,,,,,,Cavernous Sinus Thrombosis,MeSH ID:D020226,,,, +BMGC_DS07469,BMG_DS028178,"Gait Disorder, Sensorimotor",UMLS ID:C0751829,,,,,,,"Gait Disorders, Neurologic",MeSH ID:D020233,,,, +BMGC_DS07470,BMG_DS028179,"Gait Disorders, Neurologic",UMLS ID:C0751830,,,,,,,"Gait Disorders, Neurologic",MeSH ID:D020233,,,, +BMGC_DS07471,BMG_DS028183,"Infarction, Anterior Cerebral Artery",UMLS ID:C0751843,,,,,anterior cerebral artery infarction,MONDO:0006647,"Infarction, Anterior Cerebral Artery",MeSH ID:D020243,anterior cerebral artery infarction,DOID:3528,, +BMGC_DS07472,BMG_DS028185,Middle Cerebral Artery Embolus,UMLS ID:C0751845,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS07473,BMG_DS028186,Left Middle Cerebral Artery Infarction,UMLS ID:C0751846,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS07474,BMG_DS028187,"Embolic Infarction, Middle Cerebral Artery",UMLS ID:C0751847,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS07475,BMG_DS028188,"Thrombotic Infarction, Middle Cerebral Artery",UMLS ID:C0751848,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS07476,BMG_DS028189,Right Middle Cerebral Artery Infarction,UMLS ID:C0751849,,,,,,,"Infarction, Middle Cerebral Artery",MeSH ID:D020244,,,, +BMGC_DS07477,BMG_DS028190,Arsenic Encephalopathy,UMLS ID:C0751851,,,,,,,Arsenic Poisoning,MeSH ID:D020261,,,, +BMGC_DS07478,BMG_DS028191,Mercurial Neuroanesthenia,UMLS ID:C0751857,,,,,,,"Mercury Poisoning, Nervous System",MeSH ID:D020262,,,, +BMGC_DS07479,BMG_DS028192,"Lead Encephalopathy, Childhood",UMLS ID:C0751860,,,,,,,"Lead Poisoning, Nervous System, Childhood",MeSH ID:D020264,,,, +BMGC_DS07480,BMG_DS028193,Lead Polyneuropathy,UMLS ID:C0751862,,,,,,,"Lead Poisoning, Nervous System, Adult",MeSH ID:D020265,,,, +BMGC_DS07481,BMG_DS028194,MPTP-Induced Degeneration of the Striatum,UMLS ID:C0751864,,,,,,,MPTP Poisoning,MeSH ID:D020267,,,, +BMGC_DS07482,BMG_DS028195,"Alcohol-Induced Disorders, Nervous System",UMLS ID:C0751865,,,,,,,"Alcohol-Induced Disorders, Nervous System",MeSH ID:D020268,,,, +BMGC_DS07483,BMG_DS028197,Alcohol Withdrawal-Induced Major Motor Seizure,UMLS ID:C0751868,,,,,,,Alcohol Withdrawal Seizures,MeSH ID:D020270,,,, +BMGC_DS07484,BMG_DS028198,"Status Epilepticus, Alcohol Withdrawal-Induced",UMLS ID:C0751869,,,,,,,Alcohol Withdrawal Seizures,MeSH ID:D020270,,,, +BMGC_DS07485,BMG_DS028199,"Heredodegenerative Disorders, Nervous System",UMLS ID:C0751870,,,,,,,"Heredodegenerative Disorders, Nervous System",MeSH ID:D020271,,,, +BMGC_DS07486,BMG_DS028200,Autoimmune Diseases of the Nervous System,UMLS ID:C0751871,,,,,autoimmune disorder of the nervous system,MONDO:0002977,Autoimmune Diseases of the Nervous System,MeSH ID:D020274,autoimmune disease of the nervous system,DOID:438,, +BMGC_DS07487,BMG_DS028201,"Immune Disorders, Nervous System",UMLS ID:C0751872,,,,,,,Autoimmune Diseases of the Nervous System,MeSH ID:D020274,,,, +BMGC_DS07488,BMG_DS028206,"Vasculitis, Central Nervous System",UMLS ID:C0751878,,,,,central nervous system vasculitis,MONDO:0003346,"Vasculitis, Central Nervous System",MeSH ID:D020293,central nervous system vasculitis,DOID:525,, +BMGC_DS07489,BMG_DS028207,Secondary CNS Vasculitis,UMLS ID:C0751879,,,,,,,"Vasculitis, Central Nervous System",MeSH ID:D020293,,,, +BMGC_DS07490,BMG_DS028208,Postzoster Arteritis,UMLS ID:C0751880,,,,,,,"Vasculitis, Central Nervous System",MeSH ID:D020293,,,, +BMGC_DS07491,BMG_DS028209,Primary CNS Vasculitis,UMLS ID:C0751881,,,,,,,"Vasculitis, Central Nervous System",MeSH ID:D020293,,,, +BMGC_DS07492,BMG_DS028210,"Myasthenic Syndromes, Congenital",UMLS ID:C0751882,,,,,congenital myasthenic syndrome,MONDO:0018940,"Myasthenic Syndromes, Congenital",MeSH ID:D020294,congenital myasthenic syndrome,DOID:3635,, +BMGC_DS07493,BMG_DS028211,"Congenital Myasthenic Syndromes, Postsynaptic",UMLS ID:C0751883,,,,,postsynaptic congenital myasthenic syndrome,MONDO:0020344,"Myasthenic Syndromes, Congenital",MeSH ID:D020294,,,, +BMGC_DS07494,BMG_DS028212,"Congenital Myasthenic Syndromes, Presynaptic",UMLS ID:C0751884,,,,,,,"Myasthenic Syndromes, Congenital",MeSH ID:D020294,,,, +BMGC_DS07495,BMG_DS028213,"Myasthenic Syndromes, Congenital, Slow Channel",UMLS ID:C0751885,,,,,,,"Myasthenic Syndromes, Congenital",MeSH ID:D020294,,,, +BMGC_DS07496,BMG_DS028214,,UMLS ID:C0751886,,,,,,,,,brain stem cancer,DOID:4203,, +BMGC_DS07497,BMG_DS028215,"Vasospasm, Intracranial",UMLS ID:C0751895,,,,,intracranial vasospasm,MONDO:0006812,"Vasospasm, Intracranial",MeSH ID:D020301,intracranial vasospasm,DOID:13100,, +BMGC_DS07498,BMG_DS028216,Migraine with Acute Onset Aura,UMLS ID:C0751904,,,,,,,Migraine with Aura,MeSH ID:D020325,,,, +BMGC_DS07499,BMG_DS028218,Subacute Vestibular Neuritis,UMLS ID:C0751907,,,,,,,Vestibular Neuronitis,MeSH ID:D020338,,,, +BMGC_DS07500,BMG_DS028219,Vestibular Neuronitis,UMLS ID:C0751908,,,,,vestibular neuronitis,MONDO:0006008,Vestibular Neuronitis,MeSH ID:D020338,vestibular neuronitis,DOID:12683,, +BMGC_DS07501,BMG_DS028220,Vestibular Neuropathy,UMLS ID:C0751909,,,,,,,Vestibular Neuronitis,MeSH ID:D020338,,,, +BMGC_DS07502,BMG_DS028224,Adult Pelizaeus-Merzbacher Disease,UMLS ID:C0751914,,,,,,,Pelizaeus-Merzbacher Disease,MeSH ID:D020371,,,, +BMGC_DS07503,BMG_DS028225,"Pelizaeus-Merzbacher Disease, Atypical",UMLS ID:C0751915,,,,,,,Pelizaeus-Merzbacher Disease,MeSH ID:D020371,,,, +BMGC_DS07504,BMG_DS028226,Classic Pelizaeus-Merzbacher Disease,UMLS ID:C0751916,,,,,"Pelizaeus-Merzbacher disease, classic form",MONDO:0017222,Pelizaeus-Merzbacher Disease,MeSH ID:D020371,,,, +BMGC_DS07505,BMG_DS028227,"Pelizaeus-Merzbacher Disease, Transitional",UMLS ID:C0751917,,,,,"Pelizaeus-Merzbacher disease, transitional form",MONDO:0017223,Pelizaeus-Merzbacher Disease,MeSH ID:D020371,,,, +BMGC_DS07506,BMG_DS028228,Cockayne-Pelizaeus-Merzbacher Disease,UMLS ID:C0751918,,,,,,,Pelizaeus-Merzbacher Disease,MeSH ID:D020371,,,, +BMGC_DS07507,BMG_DS028229,Acquired Neuromyotonia,UMLS ID:C0751919,,,,,,,Isaacs Syndrome,MeSH ID:D020386,,,, +BMGC_DS07508,BMG_DS028230,"Medial Neuropathy, Distal",UMLS ID:C0751920,,,,,,,Median Neuropathy,MeSH ID:D020423,,,, +BMGC_DS07509,BMG_DS028231,Median Neuropathy,UMLS ID:C0751922,,,,,median nerve neuropathy,MONDO:0003598,Median Neuropathy,MeSH ID:D020423,,,, +BMGC_DS07510,BMG_DS028232,"Neuralgia-Neuritis, Sciatic Nerve",UMLS ID:C0751924,,,,,,,Sciatic Neuropathy,MeSH ID:D020426,,,, +BMGC_DS07511,BMG_DS028233,Sciatic Nerve Palsy,UMLS ID:C0751925,,,,,,,Sciatic Neuropathy,MeSH ID:D020426,,,, +BMGC_DS07512,BMG_DS028234,"Neuropathy, Common Peroneal",UMLS ID:C0751926,,,,,,,Peroneal Neuropathies,MeSH ID:D020427,,,, +BMGC_DS07513,BMG_DS028235,Fibular Neuropathy,UMLS ID:C0751927,,,,,,,Peroneal Neuropathies,MeSH ID:D020427,,,, +BMGC_DS07514,BMG_DS028236,"Neuropathy, Deep Peroneal",UMLS ID:C0751928,,,,,,,Peroneal Neuropathies,MeSH ID:D020427,,,, +BMGC_DS07515,BMG_DS028237,"Neuropathy, Superficial Peroneal",UMLS ID:C0751929,,,,,,,Peroneal Neuropathies,MeSH ID:D020427,,,, +BMGC_DS07516,BMG_DS028238,Femoral Neuritis,UMLS ID:C0751930,,,,,,,Femoral Neuropathy,MeSH ID:D020428,,,, +BMGC_DS07517,BMG_DS028239,Femoral Neuropathy,UMLS ID:C0751931,,,,,femoral neuropathy,MONDO:0006759,Femoral Neuropathy,MeSH ID:D020428,femoral neuropathy,DOID:4196,, +BMGC_DS07518,BMG_DS028240,Tibial Neuropathy,UMLS ID:C0751932,,,,,tibial neuropathy,MONDO:0006997,Tibial Neuropathy,MeSH ID:D020429,tibial neuropathy,DOID:1187,, +BMGC_DS07519,BMG_DS028245,,UMLS ID:C0751937,,,,,olfactory nerve disorder,MONDO:0002727,,,olfactory nerve disease,DOID:367,, +BMGC_DS07520,BMG_DS028246,"Superior Oblique Palsy, Neurogenic",UMLS ID:C0751939,,,,,,,Trochlear Nerve Diseases,MeSH ID:D020432,trochlear nerve disease,DOID:13864,, +BMGC_DS07521,BMG_DS028247,"Abducens Palsy, Childhood, Benign Recurrent",UMLS ID:C0751940,,,,,,,Abducens Nerve Diseases,MeSH ID:D020434,,,, +BMGC_DS07522,BMG_DS028249,Glossopharyngeal Motor Neuropathy,UMLS ID:C0751942,,,,,glossopharyngeal motor neuropathy,MONDO:0004279,Glossopharyngeal Nerve Diseases,MeSH ID:D020435,glossopharyngeal motor neuropathy,DOID:7558,, +BMGC_DS07523,BMG_DS028252,Hypoglossal Neuropathy,UMLS ID:C0751945,,,,,,,Hypoglossal Nerve Diseases,MeSH ID:D020437,,,, +BMGC_DS07524,BMG_DS028253,"Neonatal Sleep Myoclonus, Benign",UMLS ID:C0751946,,,,,,,Parasomnias,MeSH ID:D020447,,,, +BMGC_DS07525,BMG_DS028254,Sleep-Related Abnormal Swallowing Syndrome,UMLS ID:C0751948,,,,,,,Parasomnias,MeSH ID:D020447,,,, +BMGC_DS07526,BMG_DS028255,Neuromuscular Junction Diseases,UMLS ID:C0751950,,,,,neuromuscular junction disease,MONDO:0020124,Neuromuscular Junction Diseases,MeSH ID:D020511,neuromuscular junction disease,DOID:439,, +BMGC_DS07527,BMG_DS028256,"Myopathy, Central Core",UMLS ID:C0751951,,,,,,,"Myopathy, Central Core",MeSH ID:D020512,congenital myopathy 1A,DOID:3529,, +BMGC_DS07528,BMG_DS028257,Anterior Circulation Brain Infarction,UMLS ID:C0751952,,,,,,,Brain Infarction,MeSH ID:D020520,,,, +BMGC_DS07529,BMG_DS028258,"Brain Infarction, Posterior Circulation",UMLS ID:C0751953,,,,,,,Brain Infarction,MeSH ID:D020520,,,, +BMGC_DS07530,BMG_DS028259,"Venous Infarction, Brain",UMLS ID:C0751954,,,,,,,Brain Infarction,MeSH ID:D020520,,,, +BMGC_DS07531,BMG_DS028260,Brain Infarction,UMLS ID:C0751955,,,,,brain infarction,MONDO:0005394,Brain Infarction,MeSH ID:D020520,brain infarction,DOID:3454,, +BMGC_DS07532,BMG_DS028261,Acute Cerebrovascular Accidents,UMLS ID:C0751956,,,,,,,Stroke,MeSH ID:D020521,,,, +BMGC_DS07533,BMG_DS028262,"Lymphoma, Lymphocytic, Intermediate",UMLS ID:C0751958,,,,,,,"Lymphoma, Mantle-Cell",MeSH ID:D020522,mantle cell lymphoma,DOID:0050746,, +BMGC_DS07534,BMG_DS028263,Millard-Gublar Syndrome,UMLS ID:C0751963,,,,,,,Brain Stem Infarctions,MeSH ID:D020526,,,, +BMGC_DS07535,BMG_DS028264,"Multiple Sclerosis, Primary Progressive",UMLS ID:C0751964,,,,,primary progressive multiple sclerosis,MONDO:0000451,"Multiple Sclerosis, Chronic Progressive",MeSH ID:D020528,primary progressive multiple sclerosis,DOID:0050784,, +BMGC_DS07536,BMG_DS028265,"Multiple Sclerosis, Secondary Progressive",UMLS ID:C0751965,,,,,secondary progressive multiple sclerosis,MONDO:0000450,"Multiple Sclerosis, Chronic Progressive",MeSH ID:D020528,secondary progressive multiple sclerosis,DOID:0050783,, +BMGC_DS07537,BMG_DS028266,"Multiple Sclerosis, Relapsing-Remitting",UMLS ID:C0751967,,,,,relapsing-remitting multiple sclerosis,MONDO:0005314,"Multiple Sclerosis, Relapsing-Remitting",MeSH ID:D020529,relapsing-remitting multiple sclerosis,DOID:2378,, +BMGC_DS07538,BMG_DS028267,Hypocatalasemia,UMLS ID:C0752048,,,,,,,Acatalasia,MeSH ID:D020642,,,, +BMGC_DS07539,BMG_DS028268,Autosomal Dominant Juvenile Parkinson Disease,UMLS ID:C0752097,,,,,,,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS07540,BMG_DS028269,Autosomal Dominant Parkinsonism,UMLS ID:C0752098,,,,,,,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS07541,BMG_DS028270,Autosomal Recessive Parkinsonism,UMLS ID:C0752100,,,,,,,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS07542,BMG_DS028271,Familial Juvenile Parkinsonism,UMLS ID:C0752104,,,,,,,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS07543,BMG_DS028272,"Parkinsonism, Juvenile",UMLS ID:C0752105,,,,,juvenile-onset Parkinson disease,MONDO:0000828,Parkinsonian Disorders,MeSH ID:D020734,,,, +BMGC_DS07544,BMG_DS028273,"Brain Diseases, Metabolic, Inherited",UMLS ID:C0752107,,,,,,,"Brain Diseases, Metabolic, Inborn",MeSH ID:D020739,,,, +BMGC_DS07545,BMG_DS028274,"Brain Diseases, Metabolic, Inborn",UMLS ID:C0752109,,,,,,,"Brain Diseases, Metabolic, Inborn",MeSH ID:D020739,,,, +BMGC_DS07546,BMG_DS028275,Central Nervous System Inborn Metabolic Diseases,UMLS ID:C0752110,,,,,,,"Brain Diseases, Metabolic, Inborn",MeSH ID:D020739,,,, +BMGC_DS07547,BMG_DS028276,Spinocerebellar Ataxia Type 1,UMLS ID:C0752120,,,,,spinocerebellar ataxia type 1,MONDO:0008119,Spinocerebellar Ataxias,MeSH ID:D020754,,,,OMIM ID:164400 +BMGC_DS07548,BMG_DS028277,Spinocerebellar Ataxia Type 2,UMLS ID:C0752121,,,,,spinocerebellar ataxia type 2,MONDO:0008458,Spinocerebellar Ataxias,MeSH ID:D020754,,,,OMIM ID:183090 +BMGC_DS07549,BMG_DS028278,Spinocerebellar Ataxia Type 4,UMLS ID:C0752122,,,,,spinocerebellar ataxia type 4,MONDO:0010847,Spinocerebellar Ataxias,MeSH ID:D020754,spinocerebellar ataxia type 4,DOID:0050957,,OMIM ID:600223 +BMGC_DS07550,BMG_DS028279,Spinocerebellar Ataxia Type 5,UMLS ID:C0752123,,,,,spinocerebellar ataxia type 5,MONDO:0010848,Spinocerebellar Ataxias,MeSH ID:D020754,,,,OMIM ID:600224 +BMGC_DS07551,BMG_DS028280,,UMLS ID:C0752124,,,,,spinocerebellar ataxia type 6,MONDO:0008457,,,,,,OMIM ID:183086 +BMGC_DS07552,BMG_DS028281,Spinocerebellar Ataxia Type 7,UMLS ID:C0752125,,,,,autosomal dominant cerebellar ataxia type II,MONDO:0016163,Spinocerebellar Ataxias,MeSH ID:D020754,,,,OMIM ID:164500 +BMGC_DS07553,BMG_DS028282,Spinal Cord Vascular Diseases,UMLS ID:C0752127,,,,,,,Spinal Cord Vascular Diseases,MeSH ID:D020758,vascular disease,DOID:178,, +BMGC_DS07554,BMG_DS028283,Posterior Spinal Artery Syndrome,UMLS ID:C0752128,,,,,,,Spinal Cord Vascular Diseases,MeSH ID:D020758,,,, +BMGC_DS07555,BMG_DS028284,Spinal Cord Ischemia,UMLS ID:C0752130,,,,,spinal cord ischemia,MONDO:0020688,Spinal Cord Ischemia,MeSH ID:D020760,vascular disease,DOID:178,, +BMGC_DS07556,BMG_DS028285,"Infarction, Posterior Cerebral Artery",UMLS ID:C0752132,,,,,posterior cerebral artery infarction,MONDO:0006917,"Infarction, Posterior Cerebral Artery",MeSH ID:D020762,posterior cerebral artery infarction,DOID:3821,, +BMGC_DS07557,BMG_DS028286,"Embolic Infarction, Posterior Cerebral Artery",UMLS ID:C0752133,,,,,,,"Infarction, Posterior Cerebral Artery",MeSH ID:D020762,,,, +BMGC_DS07558,BMG_DS028287,"Thrombotic Infarction, Posterior Cerebral Artery",UMLS ID:C0752134,,,,,,,"Infarction, Posterior Cerebral Artery",MeSH ID:D020762,,,, +BMGC_DS07559,BMG_DS028288,"Brain Diseases, Arterial",UMLS ID:C0752137,,,,,,,Intracranial Arterial Diseases,MeSH ID:D020765,,,, +BMGC_DS07560,BMG_DS028289,Intracranial Arterial Diseases,UMLS ID:C0752138,,,,,intracranial arterial disease,MONDO:0006808,Intracranial Arterial Diseases,MeSH ID:D020765,intracranial arterial disease,DOID:13089,, +BMGC_DS07561,BMG_DS028290,Intracranial Embolism,UMLS ID:C0752140,,,,,intracranial embolism,MONDO:0006809,Intracranial Embolism,MeSH ID:D020766,intracranial embolism,DOID:4372,, +BMGC_DS07562,BMG_DS028291,Intracranial Thrombosis,UMLS ID:C0752143,,,,,intracranial thrombosis,MONDO:0002907,Intracranial Thrombosis,MeSH ID:D020767,intracranial thrombosis,DOID:4193,, +BMGC_DS07563,BMG_DS028292,Brain Thrombosis,UMLS ID:C0752144,,,,,,,Intracranial Thrombosis,MeSH ID:D020767,,,, +BMGC_DS07564,BMG_DS028294,Chronic Daily Headache,UMLS ID:C0752147,,,,,,,Headache Disorders,MeSH ID:D020773,,,, +BMGC_DS07565,BMG_DS028295,"Headache, Intractable",UMLS ID:C0752149,,,,,,,Headache Disorders,MeSH ID:D020773,,,, +BMGC_DS07566,BMG_DS028296,Hypnic Headache,UMLS ID:C0752150,,,,,hypnic headache,MONDO:0017181,"Headache Disorders, Primary",MeSH ID:D051270,,,, +BMGC_DS07567,BMG_DS028298,Bardet-Biedl Syndrome,UMLS ID:C0752166,,,,,Bardet-Biedl syndrome,MONDO:0015229,Bardet-Biedl Syndrome,MeSH ID:D020788,Bardet-Biedl syndrome,DOID:1935,, +BMGC_DS07568,BMG_DS028306,Neuroschistosomiasis,UMLS ID:C0752191,Infection of nervous system caused by Schistosoma (disorder) | Neuroschistosomiasis | Infection of nervous system caused by Schistosoma,SNOMEDCT ID:1177012000,,,neuroschistosomiasis,MONDO:0005874,Neuroschistosomiasis,MeSH ID:D020818,neuroschistosomiasis,DOID:13722,, +BMGC_DS07569,BMG_DS028311,Ballismus,UMLS ID:C0752196,Ballism (disorder) | Ballismus | Ballism,SNOMEDCT ID:426592006,,,,,Dyskinesias,MeSH ID:D020820,,,,OMIM ID:MTHU055453 +BMGC_DS07570,BMG_DS028312,Adult-Onset Dystonias,UMLS ID:C0752197,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07571,BMG_DS028313,Adult-Onset Idiopathic Focal Dystonias,UMLS ID:C0752198,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07572,BMG_DS028314,Adult-Onset Idiopathic Torsion Dystonias,UMLS ID:C0752199,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07573,BMG_DS028315,Autosomal Dominant Familial Dystonia,UMLS ID:C0752200,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07574,BMG_DS028316,Autosomal Recessive Familial Dystonia,UMLS ID:C0752201,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07575,BMG_DS028317,Childhood Onset Dystonias,UMLS ID:C0752202,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07576,BMG_DS028318,"Dystonia, Primary",UMLS ID:C0752203,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07577,BMG_DS028319,"Dystonia, Secondary",UMLS ID:C0752205,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07578,BMG_DS028320,"Dystonias, Sporadic",UMLS ID:C0752206,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07579,BMG_DS028321,Familial Dystonia,UMLS ID:C0752207,,,,,,,Dystonic Disorders,MeSH ID:D020821,generalized dystonia,DOID:0050835,, +BMGC_DS07580,BMG_DS028322,Pseudodystonia,UMLS ID:C0752208,,,,,psychogenic movement disorders,MONDO:0019114,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS07581,BMG_DS028323,"Dyskinesias, Paroxysmal",UMLS ID:C0752210,,,,,paroxysmal dyskinesia,MONDO:0015427,Chorea,MeSH ID:D002819,,,, +BMGC_DS07582,BMG_DS028326,Lyme Neuroborreliosis,UMLS ID:C0752235,,,,,,,Lyme Neuroborreliosis,MeSH ID:D020852,Lyme disease,DOID:11729,, +BMGC_DS07583,BMG_DS028333,Position Sense Disorders,UMLS ID:C0752258,,,,,,,Somatosensory Disorders,MeSH ID:D020886,,,, +BMGC_DS07584,BMG_DS028334,Thermal Sensation Disorders,UMLS ID:C0752261,,,,,,,Somatosensory Disorders,MeSH ID:D020886,,,, +BMGC_DS07585,BMG_DS028335,Somatosensory Disorders,UMLS ID:C0752262,,,,,,,Somatosensory Disorders,MeSH ID:D020886,,,, +BMGC_DS07586,BMG_DS028336,Congenital Structural Myopathy,UMLS ID:C0752282,,,,,congenital structural myopathy,MONDO:0002921,"Myopathies, Structural, Congenital",MeSH ID:D020914,congenital structural myopathy,DOID:422,, +BMGC_DS07587,BMG_DS028339,Environmental Sleep Disorder,UMLS ID:C0752289,,,,,,,Dyssomnias,MeSH ID:D020920,,,, +BMGC_DS07588,BMG_DS028340,"Sleep Disorders, Extrinsic",UMLS ID:C0752293,,,,,,,Dyssomnias,MeSH ID:D020920,,,, +BMGC_DS07589,BMG_DS028348,Hypoxic-Ischemic Encephalopathy,UMLS ID:C0752304,,,,,,,"Hypoxia-Ischemia, Brain",MeSH ID:D020925,,,, +BMGC_DS07590,BMG_DS028349,Anoxic-Ischemic Encephalopathy,UMLS ID:C0752305,,,,,,,"Hypoxia-Ischemia, Brain",MeSH ID:D020925,,,, +BMGC_DS07591,BMG_DS028350,"Anoxia-Ischemia, Brain",UMLS ID:C0752306,,,,,,,"Hypoxia-Ischemia, Brain",MeSH ID:D020925,,,, +BMGC_DS07592,BMG_DS028351,"Anoxia-Ischemia, Cerebral",UMLS ID:C0752307,,,,,,,"Hypoxia-Ischemia, Brain",MeSH ID:D020925,,,, +BMGC_DS07593,BMG_DS028352,"Hypoxia-Ischemia, Brain",UMLS ID:C0752308,,,,,brain hypoxia - ischemia,MONDO:0006685,"Hypoxia-Ischemia, Brain",MeSH ID:D020925,,,, +BMGC_DS07594,BMG_DS028353,"Epilepsy, Partial, Sensory",UMLS ID:C0752322,,,,,,,"Epilepsy, Partial, Sensory",MeSH ID:D020937,partial sensory epilepsy,DOID:3330,, +BMGC_DS07595,BMG_DS028354,Focal Clonic Seizures,UMLS ID:C0752323,,,,,,,"Epilepsy, Partial, Motor",MeSH ID:D020938,,,, +BMGC_DS07596,BMG_DS028361,"Lupus Vasculitis, Central Nervous System",UMLS ID:C0752332,,,,,central nervous system lupus,MONDO:0043985,"Lupus Vasculitis, Central Nervous System",MeSH ID:D020945,,,, +BMGC_DS07597,BMG_DS028362,Lupus Meningoencephalitis,UMLS ID:C0752334,,,,,,,"Lupus Vasculitis, Central Nervous System",MeSH ID:D020945,,,, +BMGC_DS07598,BMG_DS028363,Neuropsychiatric Systemic Lupus Erythematosus,UMLS ID:C0752335,,,,,,,"Lupus Vasculitis, Central Nervous System",MeSH ID:D020945,,,, +BMGC_DS07599,BMG_DS028365,Neuroaspergillosis,UMLS ID:C0752342,,,,,neuroaspergillosis,MONDO:0005873,Neuroaspergillosis,MeSH ID:D020953,neuroaspergillosis,DOID:13565,, +BMGC_DS07600,BMG_DS028366,Lewy Body Disease,UMLS ID:C0752347,,,,,Lewy body dementia,MONDO:0007488,Lewy Body Disease,MeSH ID:D020961,Lewy body dementia,DOID:12217,,OMIM ID:127750 +BMGC_DS07601,BMG_DS028367,"Muscular Disorders, Atrophic",UMLS ID:C0752352,,,,,atrophic muscular disease,MONDO:0004714,"Muscular Disorders, Atrophic",MeSH ID:D020966,atrophic muscular disease,DOID:913,, +BMGC_DS07602,BMG_DS028369,,UMLS ID:C0752355,,,,,myotonia fluctuans,MONDO:0020481,,,,,, +BMGC_DS07603,BMG_DS028373,Cerebral arterial thrombosis,UMLS ID:C0795687,Cerebral thrombosis | Thrombosis of cerebral arteries | Cerebral arterial thrombosis | Cerebral arterial thrombosis (disorder) | CT - Cerebral thrombosis,SNOMEDCT ID:71444005,,,,,,,,,, +BMGC_DS07604,BMG_DS028374,,UMLS ID:C0795690,,,,,omphalocele,MONDO:0019015,,,omphalocele | umbilical hernia,DOID:0060327;DOID:0060321,, +BMGC_DS07605,BMG_DS028391,Recombinant chromosome 8 syndrome,UMLS ID:C0795822,Recombinant chromosome 8 syndrome (disorder) | Recombinant chromosome 8 syndrome | San Luis Valley syndrome,SNOMEDCT ID:718189004,,,recombinant 8 syndrome,MONDO:0008365,,MeSH ID:C535296,,,,OMIM ID:179613 +BMGC_DS07606,BMG_DS028396,CHROMOSOME 9p DELETION SYNDROME,UMLS ID:C0795830,,,,,chromosome 9p deletion syndrome,MONDO:0008013,,,,,,OMIM ID:158170 +BMGC_DS07607,BMG_DS028398,KLEEFSTRA SYNDROME 1,UMLS ID:C0795833,,,,,Kleefstra syndrome 1,MONDO:0027407,,,Kleefstra syndrome 1,DOID:0060352,,OMIM ID:607001 | OMIM ID:610253 +BMGC_DS07608,BMG_DS028403,Jacobsen Distal 11q Deletion Syndrome,UMLS ID:C0795841,,,,,Jacobsen syndrome,MONDO:0007838,Jacobsen Distal 11q Deletion Syndrome,MeSH ID:D054868,Jacobsen Syndrome,DOID:0111723,,OMIM ID:147791 +BMGC_DS07609,BMG_DS028416,Smith-Magenis syndrome,UMLS ID:C0795864,Smith-Magenis syndrome (disorder) | Smith-Magenis syndrome,SNOMEDCT ID:401315004,,,Smith-Magenis syndrome,MONDO:0008434,,,,,ICD10 ID:Q93.88,OMIM ID:182290 +BMGC_DS07610,BMG_DS028426,,UMLS ID:C0795888,,,,,"autism, susceptibility to, X-linked 4",MONDO:0010440,,,,,,OMIM ID:300830 +BMGC_DS07611,BMG_DS028427,,UMLS ID:C0795889,,,,,Allan-Herndon-Dudley syndrome,MONDO:0010354,,,,,,OMIM ID:300523 +BMGC_DS07612,BMG_DS028429,Alopecia contractures dwarfism mental retardation,UMLS ID:C0795895,,,,,alopecia - contractures - dwarfism - intellectual disability syndrome,MONDO:0008754,,MeSH ID:C537051,,,,OMIM ID:203550 +BMGC_DS07613,BMG_DS028430,Cleft Palate-Lateral Synechia Syndrome,UMLS ID:C0795898,,,,,cleft palate-lateral synechia syndrome,MONDO:0007337,,MeSH ID:C563047,cleft palate-lateral synechia syndrome,DOID:0080313,,OMIM ID:119550 +BMGC_DS07614,BMG_DS028432,"Coloboma, cleft lip-palate and mental retardation syndrome",UMLS ID:C0795902,,,,,,,,MeSH ID:C535971,uveal coloboma-cleft lip and palate-intellectual disability,DOID:0111249,, +BMGC_DS07615,BMG_DS028433,Cantu syndrome,UMLS ID:C0795905,Cantu's syndrome | Cantu's syndrome (disorder) | Cantu syndrome,SNOMEDCT ID:239087008,,,hypertrichotic osteochondrodysplasia Cantu type,MONDO:0009406,,MeSH ID:C535572,hypertrichotic osteochondrodysplasia Cantu type,DOID:0060569,,OMIM ID:239850 +BMGC_DS07616,BMG_DS028434,CONOTRUNCAL ANOMALY FACE SYNDROME,UMLS ID:C0795907,,,,,,,,,,,,OMIM ID:217095 +BMGC_DS07617,BMG_DS028435,COWCHOCK SYNDROME,UMLS ID:C0795910,,,,,Charcot-Marie-Tooth disease X-linked recessive 4,MONDO:0010689,,,,,,OMIM ID:310490 | OMIM ID:300169 +BMGC_DS07618,BMG_DS028436,Crome syndrome,UMLS ID:C0795914,"Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Congenital cataract, nephropathy, encephalopathy syndrome | Crome syndrome",SNOMEDCT ID:722381004,,,cataract-nephropathy-encephalopathy syndrome,MONDO:0009045,,MeSH ID:C536216,,,,OMIM ID:218900 +BMGC_DS07619,BMG_DS028437,Winter Shortland Temple syndrome,UMLS ID:C0795915,,,,,Curry-Jones syndrome,MONDO:0011134,,MeSH ID:C536735,,,,OMIM ID:601707 +BMGC_DS07620,BMG_DS028438,"Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",UMLS ID:C0795917,,,,,alpha thalassemia-intellectual disability syndrome type 1,MONDO:0007716,,MeSH ID:C563050,,,,OMIM ID:141750 +BMGC_DS07621,BMG_DS028440,"Deafness, congenital onychodystrophy, recessive form",UMLS ID:C0795927,,,,,,,,MeSH ID:C538204,DOORS syndrome,DOID:0111627,, +BMGC_DS07622,BMG_DS028441,Edinburgh Malformation Syndrome,UMLS ID:C0795933,,,,,Edinburgh malformation syndrome,MONDO:0007519,,MeSH ID:C563051,,,,OMIM ID:129850 +BMGC_DS07623,BMG_DS028442,Digitorenocerebral Syndrome,UMLS ID:C0795934,,,,,DOORS syndrome,MONDO:0009079,,MeSH ID:C563052,,,,OMIM ID:220500 +BMGC_DS07624,BMG_DS028444,AMINOPTERIN SYNDROME SINE AMINOPTERIN,UMLS ID:C0795939,,,,,pseudoaminopterin syndrome,MONDO:0010865,,,,,,OMIM ID:600325 +BMGC_DS07625,BMG_DS028445,Filippi syndrome,UMLS ID:C0795940,"Filippi syndrome (disorder) | Filippi syndrome | Type 1 syndactyly, microcephaly, intellectual disability syndrome",SNOMEDCT ID:720954000,,,Filippi syndrome,MONDO:0010092,,MeSH ID:C538152,Filippi syndrome,DOID:0112194,,OMIM ID:272440 +BMGC_DS07626,BMG_DS028446,Fine-Lubinsky syndrome,UMLS ID:C0795941,,,,,Fine-Lubinsky syndrome,MONDO:0011049,,MeSH ID:C537933,,,,OMIM ID:601353 +BMGC_DS07627,BMG_DS028448,Fountain syndrome,UMLS ID:C0795944,"Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) | Fountain syndrome | Deafness with skeletal dysplasia and lip granuloma syndrome | Deafness, skeletal dysplasia, coarse face with full lips syndrome",SNOMEDCT ID:720957007,,,fountain syndrome,MONDO:0009241,,MeSH ID:C537270,,,,OMIM ID:229120 +BMGC_DS07628,BMG_DS028450,Galloway Mowat syndrome,UMLS ID:C0795949,"Galloway Mowat syndrome (disorder) | Galloway Mowat syndrome | Galloway syndrome | Microcephaly, hiatus hernia, nephrotic syndrome | Nephrosis, neuronal dysmigration syndrome",SNOMEDCT ID:721297008,,,Galloway-Mowat syndrome,MONDO:0009627,,MeSH ID:C537548,Galloway-Mowat syndrome,DOID:0080694,, +BMGC_DS07629,BMG_DS028451,Corpus callosum agenesis neuronopathy,UMLS ID:C0795950,,,,,agenesis of the corpus callosum with peripheral neuropathy,MONDO:0000902,,MeSH ID:C536446,,,,OMIM ID:218000 +BMGC_DS07630,BMG_DS028452,XK aprosencephaly,UMLS ID:C0795952,,,,,XK aprosencephaly,MONDO:0008811,,MeSH ID:C536767,,,,OMIM ID:207770 +BMGC_DS07631,BMG_DS028453,MASA syndrome,UMLS ID:C0795953,"MASA syndrome | MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome | Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome | Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)",SNOMEDCT ID:838441009,,,MASA syndrome,MONDO:0010559,,,MASA syndrome,DOID:0060246,,OMIM ID:303350 +BMGC_DS07632,BMG_DS028454,Chylomicron retention disease,UMLS ID:C0795956,Chylomicron retention disease | Lipid transport defect of intestine | Chylomicron retention disease (disorder) | Anderson syndrome,SNOMEDCT ID:702364003,Hypertriglyceridaemia,ICD11 ID:5C80.1,chylomicron retention disease,MONDO:0009528,,MeSH ID:C535460,chylomicron retention disease,DOID:0060357,ICD10 ID:E78.3,OMIM ID:246700 +BMGC_DS07633,BMG_DS028455,Gomez Lopez Hernandez syndrome,UMLS ID:C0795959,Gomez Lopez Hernandez syndrome (disorder) | Gomez Lopez Hernandez syndrome | Cerebellotrigeminal dermal dysplasia syndrome,SNOMEDCT ID:722451006,,,Gomez-Lopez-Hernandez syndrome,MONDO:0011157,,MeSH ID:C537285,,,,OMIM ID:601853 +BMGC_DS07634,BMG_DS028456,X-linked mental retardation Gustavson type,UMLS ID:C0795965,,,,,"severe X-linked intellectual disability, Gustavson type",MONDO:0010661,,MeSH ID:C536759,,,,OMIM ID:309555 +BMGC_DS07635,BMG_DS028457,Hardikar syndrome,UMLS ID:C0795969,Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) | Cholestasis with pigmentary retinopathy and cleft palate syndrome | Hardikar syndrome,SNOMEDCT ID:720636001,,,cholestasis-pigmentary retinopathy-cleft palate syndrome,MONDO:0012997,,MeSH ID:C535632,,,,OMIM ID:301068 | OMIM ID:612726 +BMGC_DS07636,BMG_DS028459,,UMLS ID:C0795974,,,,,"bullous dystrophy, macular type",MONDO:0010540,,,,,,OMIM ID:302000 +BMGC_DS07637,BMG_DS028462,Infantile striatonigral degeneration,UMLS ID:C0795996,Infantile striatonigral degeneration (disorder) | Infantile striatonigral degeneration | Infantile bilateral striatal necrosis,SNOMEDCT ID:718174008,,,infantile bilateral striatal necrosis,MONDO:0015518,,,,,, +BMGC_DS07638,BMG_DS028463,JACKSON-WEISS SYNDROME,UMLS ID:C0795998,,,,,Jackson-Weiss syndrome,MONDO:0007400,,,Jackson-Weiss syndrome,DOID:0111337,,OMIM ID:176943 | OMIM ID:123150 | OMIM ID:136350 +BMGC_DS07639,BMG_DS028467,Juberg-Marsidi syndrome,UMLS ID:C0796003,,,,,,,,MeSH ID:C567476,,,, +BMGC_DS07640,BMG_DS028468,,UMLS ID:C0796004,,,,,Kabuki syndrome,MONDO:0016512,,,Kabuki syndrome,DOID:0060473,, +BMGC_DS07641,BMG_DS028469,Kapur Toriello syndrome,UMLS ID:C0796005,Kapur Toriello syndrome (disorder) | Kapur Toriello syndrome,SNOMEDCT ID:722031003,,,Kapur-Toriello syndrome,MONDO:0009483,,MeSH ID:C537008,,,,OMIM ID:244300 +BMGC_DS07642,BMG_DS028470,Kifafa seizure disorder,UMLS ID:C0796010,,,,,Kifafa seizure disorder,MONDO:0009497,,MeSH ID:C537708,,,,OMIM ID:245180 +BMGC_DS07643,BMG_DS028471,Krause-Kivlin syndrome,UMLS ID:C0796012,,,,,Peters plus syndrome,MONDO:0009856,,MeSH ID:C537617,,,,OMIM ID:261540 +BMGC_DS07644,BMG_DS028472,Zimmerman Laband syndrome,UMLS ID:C0796013,,,,,Zimmermann-Laband syndrome,MONDO:0000200,,MeSH ID:C536725,,,, +BMGC_DS07645,BMG_DS028473,,UMLS ID:C0796016,,,,,"microphthalmia, syndromic 1",MONDO:0010671,,,,,,OMIM ID:309800 +BMGC_DS07646,BMG_DS028474,Spastic paraplegia 23,UMLS ID:C0796019,,,,,hereditary spastic paraplegia 23,MONDO:0010046,,MeSH ID:C536859,,,,OMIM ID:270750 +BMGC_DS07647,BMG_DS028475,Lowry Maclean syndrome,UMLS ID:C0796020,,,,,Lowry-MacLean syndrome,MONDO:0010851,,MeSH ID:C537037,,,,OMIM ID:600252 +BMGC_DS07648,BMG_DS028476,Lowry Wood syndrome,UMLS ID:C0796021,"Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | Epiphyseal dysplasia, microcephalus, nystagmus syndrome | Lowry Wood syndrome",SNOMEDCT ID:721975004,,,Lowry-Wood syndrome,MONDO:0009191,,MeSH ID:C537038,,,,OMIM ID:226960 +BMGC_DS07649,BMG_DS028477,Lujan Fryns syndrome,UMLS ID:C0796022,,,,,X-linked intellectual disability with marfanoid habitus,MONDO:0010655,,MeSH ID:C537724,syndromic X-linked intellectual disability 14,DOID:0060821,,OMIM ID:309520 +BMGC_DS07650,BMG_DS028478,Lysine Malabsorption Syndrome,UMLS ID:C0796023,,,,,lysine malabsorption syndrome,MONDO:0009542,,MeSH ID:C563080,,,,OMIM ID:247950 +BMGC_DS07651,BMG_DS028479,MacDermot Winter syndrome,UMLS ID:C0796024,Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) | Prominent glabella with microcephaly and hypogenitalism syndrome | MacDermot Winter syndrome,SNOMEDCT ID:716023007,,,prominent glabella-microcephaly-hypogenitalism syndrome,MONDO:0009543,,MeSH ID:C537714,,,,OMIM ID:247990 +BMGC_DS07652,BMG_DS028480,"ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",UMLS ID:C0796028,,,,,Arts syndrome,MONDO:0010533,,,Arts syndrome,DOID:0050647,,OMIM ID:301835 +BMGC_DS07653,BMG_DS028481,Malouf syndrome,UMLS ID:C0796031,Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Cardiogenital syndrome | Malouf syndrome | Najjar syndrome,SNOMEDCT ID:719451006,,,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,MONDO:0008915,,MeSH ID:C535703,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,DOID:0111584,,OMIM ID:212112 +BMGC_DS07654,BMG_DS028482,Malpuech facial clefting syndrome,UMLS ID:C0796032,,,,,3MC syndrome 3,MONDO:0009554,,MeSH ID:C535704,,,,OMIM ID:248340 +BMGC_DS07655,BMG_DS028483,MARDEN-WALKER SYNDROME,UMLS ID:C0796033,,,,,Marden-Walker syndrome,MONDO:0009564,,,,,,OMIM ID:248700 | OMIM ID:613629 +BMGC_DS07656,BMG_DS028485,Martsolf syndrome,UMLS ID:C0796037,Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) | Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome | Martsolf syndrome,SNOMEDCT ID:722380003,,,Martsolf syndrome,MONDO:0023910,,MeSH ID:C536028,Martsolf syndrome,DOID:0111586,, +BMGC_DS07657,BMG_DS028487,Reardon Wilson Cavanagh syndrome,UMLS ID:C0796045,,,,,ataxia - deafness - intellectual disability syndrome,MONDO:0008838,,MeSH ID:C535295,,,,OMIM ID:208850 +BMGC_DS07658,BMG_DS028488,Gurrieri Sammito Bellussi syndrome,UMLS ID:C0796046,Skeletal dysplasia with epilepsy and short stature syndrome (disorder) | Gurrieri Sammito Bellussi syndrome | Skeletal dysplasia with epilepsy and short stature syndrome,SNOMEDCT ID:715428003,,,skeletal dysplasia-epilepsy-short stature syndrome,MONDO:0011011,,MeSH ID:C537625,,,,OMIM ID:601187 +BMGC_DS07659,BMG_DS028489,Mercaptolactate-Cysteine Disulfiduria,UMLS ID:C0796055,,,,,encephalopathy due to beta-mercaptolactate-cysteine disulfiduria,MONDO:0009585,,MeSH ID:C563085,,,,OMIM ID:249650 +BMGC_DS07660,BMG_DS028491,Mexican Cardiomelic Dysplasia,UMLS ID:C0796057,,,,,mesoaxial hexadactyly and cardiac malformation,MONDO:0009587,,MeSH ID:C563087,,,,OMIM ID:249670 +BMGC_DS07661,BMG_DS028492,Oculopalatoskeletal syndrome,UMLS ID:C0796059,,,,,3MC syndrome 1,MONDO:0009770,,MeSH ID:C537738,,,,OMIM ID:257920 +BMGC_DS07662,BMG_DS028494,,UMLS ID:C0796063,,,,,Jawad syndrome,MONDO:0009622,,,,,,OMIM ID:251255 +BMGC_DS07663,BMG_DS028495,Microcephaly cervical spine fusion anomalies,UMLS ID:C0796066,,,,,microcephaly-cervical spine fusion anomalies syndrome,MONDO:0009621,,MeSH ID:C537325,,,,OMIM ID:251250 +BMGC_DS07664,BMG_DS028496,Oculodigitoesophagoduodenal syndrome,UMLS ID:C0796068,,,,,Feingold syndrome,MONDO:0015267,,MeSH ID:C537734,Feingold syndrome,DOID:0060464,, +BMGC_DS07665,BMG_DS028497,"MICROPHTHALMIA, SYNDROMIC 7",UMLS ID:C0796070,,,,,linear skin defects with multiple congenital anomalies 1,MONDO:0024552,,,,,,OMIM ID:309801 +BMGC_DS07666,BMG_DS028498,Mirhosseini-Holmes-Walton syndrome,UMLS ID:C0796072,,,,,"retinopathy, pigmentary, and intellectual disability",MONDO:0009986,,MeSH ID:C536438,,,,OMIM ID:268050 +BMGC_DS07667,BMG_DS028499,MOHR-TRANEBJAERG SYNDROME,UMLS ID:C0796074,,,,,deafness dystonia syndrome,MONDO:0010578,,,,,,OMIM ID:300356 | OMIM ID:304700 +BMGC_DS07668,BMG_DS028503,Myhre syndrome,UMLS ID:C0796081,"Facial dysmorphism, intellectual deficit, short stature and hearing loss | Laryngotracheal stenosis, arthropathy, prognathism and short stature | Myhre syndrome | Myhre syndrome (disorder)",SNOMEDCT ID:699316006,,,Myhre syndrome,MONDO:0007688,,MeSH ID:C537620,,,,OMIM ID:139210 +BMGC_DS07669,BMG_DS028504,Najjar syndrome,UMLS ID:C0796083,Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) | Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome | Cardiogenital syndrome | Malouf syndrome | Najjar syndrome,SNOMEDCT ID:719451006,,,,,,MeSH ID:C535580,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,DOID:0111584,, +BMGC_DS07670,BMG_DS028505,Nance-Horan syndrome,UMLS ID:C0796085,Nance-Horan syndrome (disorder) | Nance-Horan syndrome,SNOMEDCT ID:445257004,,,Nance-Horan syndrome,MONDO:0010545,,MeSH ID:C538336,Nance-Horan syndrome,DOID:0060599,,OMIM ID:302350 +BMGC_DS07671,BMG_DS028506,Neuhauser syndrome,UMLS ID:C0796086,,,,,megalocornea-intellectual disability syndrome,MONDO:0009577,,MeSH ID:C536143,,,,OMIM ID:249310 +BMGC_DS07672,BMG_DS028508,"LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",UMLS ID:C0796089,,,,,Norman-Roberts syndrome,MONDO:0009760,,,Norman-Roberts syndrome,DOID:0060902,,OMIM ID:257320 +BMGC_DS07673,BMG_DS028509,Oculocerebrocutaneous syndrome,UMLS ID:C0796092,Delleman-Oorthuys syndrome | Oculocerebrocutaneous syndrome (disorder) | Oculocerebrocutaneous syndrome,SNOMEDCT ID:403554008,,,oculocerebrocutaneous syndrome,MONDO:0008108,,MeSH ID:C538088,,,,OMIM ID:164180 +BMGC_DS07674,BMG_DS028510,Odontoonychodermal dysplasia,UMLS ID:C0796093,,,,,odonto-onycho-dermal dysplasia,MONDO:0009773,,MeSH ID:C537742,,,,OMIM ID:257980 +BMGC_DS07675,BMG_DS028511,Blepharophimosis syndrome Ohdo type,UMLS ID:C0796094,,,,,"blepharophimosis - intellectual disability syndrome, Ohdo type",MONDO:0009583,,MeSH ID:C536232,Ohdo syndrome,DOID:0060289,,OMIM ID:249620 +BMGC_DS07676,BMG_DS028512,Opitz trigonocephaly syndrome,UMLS ID:C0796095,,,,,C syndrome,MONDO:0008893,,MeSH ID:C537418,C syndrome,DOID:0111581,,OMIM ID:211750 +BMGC_DS07677,BMG_DS028513,CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND MICROCEPHALY,UMLS ID:C0796099,,,,,Juberg-Hayward syndrome,MONDO:0008992,,,,,,OMIM ID:216100 +BMGC_DS07678,BMG_DS028514,Orofaciodigital Syndrome VII,UMLS ID:C0796100,,,,,orofaciodigital syndrome VII,MONDO:0012049,,MeSH ID:C563104,orofaciodigital syndrome VII,DOID:0060377,,OMIM ID:608518 +BMGC_DS07679,BMG_DS028515,Orofaciodigital syndrome 8,UMLS ID:C0796101,,,,,orofaciodigital syndrome VIII,MONDO:0010336,,MeSH ID:C557820,orofaciodigital syndrome VIII,DOID:0060378,,OMIM ID:300484 +BMGC_DS07680,BMG_DS028516,Orofaciodigital syndrome 9,UMLS ID:C0796102,,,,,orofaciodigital syndrome IX,MONDO:0009795,,MeSH ID:C557818,orofaciodigital syndrome IX,DOID:0060382,,OMIM ID:258865 +BMGC_DS07681,BMG_DS028518,"Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor",UMLS ID:C0796113,,,,,Perlman syndrome,MONDO:0009965,,MeSH ID:C536399,Perlman syndrome,DOID:0060476,,OMIM ID:267000 +BMGC_DS07682,BMG_DS028519,Pitt-Rogers-Danks Syndrome,UMLS ID:C0796117,,,,,,,Wolf-Hirschhorn Syndrome,MeSH ID:D054877,Wolf-Hirschhorn syndrome,DOID:0050460,, +BMGC_DS07683,BMG_DS028522,Primrose syndrome,UMLS ID:C0796121,"Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) | Intellectual disability, cataract, calcified pinna, myopathy syndrome | Primrose syndrome",SNOMEDCT ID:726709001,,,Primrose syndrome,MONDO:0009798,,MeSH ID:C536420,,,,OMIM ID:259050 +BMGC_DS07684,BMG_DS028523,Cataract ataxia deafness,UMLS ID:C0796123,,,,,cataract-ataxia-deafness syndrome,MONDO:0008928,,MeSH ID:C538283,,,,OMIM ID:212710 +BMGC_DS07685,BMG_DS028524,Proud Syndrome,UMLS ID:C0796124,,,,,corpus callosum agenesis-abnormal genitalia syndrome,MONDO:0010224,,MeSH ID:C563110,,,,OMIM ID:300004 +BMGC_DS07686,BMG_DS028525,Absent Eyebrows and Eyelashes with Mental Retardation,UMLS ID:C0796125,,,,,pseudoprogeria syndrome,MONDO:0008694,,MeSH ID:C563111,,,,OMIM ID:200130 +BMGC_DS07687,BMG_DS028526,AICARDI-GOUTIERES SYNDROME 1,UMLS ID:C0796126,,,,,Aicardi-Goutieres syndrome 1,MONDO:0009165,,,,,,OMIM ID:606609 | OMIM ID:225750 +BMGC_DS07688,BMG_DS028527,Ramon Syndrome,UMLS ID:C0796133,,,,,Ramon syndrome,MONDO:0009954,,MeSH ID:C535285,,,,OMIM ID:266270 +BMGC_DS07689,BMG_DS028528,Renpenning syndrome 1,UMLS ID:C0796135,,,,,Renpenning syndrome,MONDO:0010653,,MeSH ID:C537761,,,,OMIM ID:309500 +BMGC_DS07690,BMG_DS028530,3C syndrome,UMLS ID:C0796137,Craniocerebellocardiac dysplasia | Ritscher Schinzel syndrome | 3C syndrome | Cranio-cerebello-cardiac dysplasia syndrome (disorder) | Cranio-cerebello-cardiac dysplasia syndrome,SNOMEDCT ID:718556007,,,Ritscher-Schinzel syndrome,MONDO:0019078,,MeSH ID:C535313,Ritscher-Schinzel syndrome,DOID:0060565,, +BMGC_DS07691,BMG_DS028532,Oculodental syndrome Rutherfurd syndrome,UMLS ID:C0796140,,,,,"oculodental syndrome, Rutherfurd type",MONDO:0008396,,MeSH ID:C537732,,,,OMIM ID:180900 +BMGC_DS07692,BMG_DS028533,Sao Paulo MCA-MR Syndrome,UMLS ID:C0796142,,,,,microbrachycephaly-ptosis-cleft lip syndrome,MONDO:0010007,,MeSH ID:C563119,,,,OMIM ID:268850 +BMGC_DS07693,BMG_DS028534,Acrocallosal Syndrome,UMLS ID:C0796147,,,,,acrocallosal syndrome,MONDO:0008708,Acrocallosal Syndrome,MeSH ID:D055673,acrocallosal syndrome,DOID:9250,,OMIM ID:200990 +BMGC_DS07694,BMG_DS028535,Scott Syndrome,UMLS ID:C0796149,,,,,Scott syndrome,MONDO:0009885,,MeSH ID:C563120,Scott syndrome,DOID:0111052,,OMIM ID:262890 +BMGC_DS07695,BMG_DS028536,"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1",UMLS ID:C0796154,,,,,Simpson-Golabi-Behmel syndrome type 1,MONDO:0020602,,,Simpson-Golabi-Behmel syndrome type 1,DOID:0060248,,OMIM ID:312870 | OMIM ID:300037 +BMGC_DS07696,BMG_DS028538,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE",UMLS ID:C0796160,,,,,syndromic X-linked intellectual disability Snyder type,MONDO:0010664,,,,,,OMIM ID:300105 | OMIM ID:309583 +BMGC_DS07697,BMG_DS028539,Sonoda syndrome,UMLS ID:C0796162,Sonoda syndrome | Congenital heart defect with round face and developmental delay syndrome (disorder) | Congenital heart defect with round face and developmental delay syndrome,SNOMEDCT ID:715987000,,,congenital heart defect-round face-developmental delay syndrome,MONDO:0010039,,MeSH ID:C536680,,,,OMIM ID:270460 +BMGC_DS07698,BMG_DS028541,"Spondylometaphyseal Dysplasia, X-Linked",UMLS ID:C0796172,,,,,"spondylometaphyseal dysplasia, Golden type",MONDO:0010738,,MeSH ID:C563124,,,,OMIM ID:313420 +BMGC_DS07699,BMG_DS028542,Spondyloperipheral dysplasia short ulna,UMLS ID:C0796173,,,,,spondyloperipheral dysplasia,MONDO:0010078,,MeSH ID:C535799,,,,OMIM ID:271700 +BMGC_DS07700,BMG_DS028543,,UMLS ID:C0796176,,,,,Stuve-Wiedemann syndrome,MONDO:0031280,,,,,, +BMGC_DS07701,BMG_DS028544,Teebi syndrome,UMLS ID:C0796179,Hypertelorism Teebi type (disorder) | Hypertelorism Teebi type | Brachycephalofrontonasal dysplasia | Craniofrontonasal dysplasia Teebi type | Teebi hypertelorism syndrome | Teebi syndrome,SNOMEDCT ID:724284005,,,Teebi hypertelorism syndrome,MONDO:0030639,,MeSH ID:C538387,,,, +BMGC_DS07702,BMG_DS028545,Acromelic frontonasal dysplasia,UMLS ID:C0796182,Acromelic frontonasal dysplasia (disorder) | Acromelic frontonasal dysplasia | Toriello syndrome,SNOMEDCT ID:715427008,,,,,,MeSH ID:C535657,,,, +BMGC_DS07703,BMG_DS028546,"Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",UMLS ID:C0796184,,,,,Toriello-Carey syndrome,MONDO:0009021,,MeSH ID:C563127,,,,OMIM ID:217980 +BMGC_DS07704,BMG_DS028548,Van Den Bosch Syndrome,UMLS ID:C0796192,,,,,van den Bosch syndrome,MONDO:0010754,,MeSH ID:C563129,,,,OMIM ID:314500 +BMGC_DS07705,BMG_DS028549,Waisman syndrome,UMLS ID:C0796195,Early onset parkinsonism and intellectual disability syndrome (disorder) | Early onset parkinsonism and intellectual disability syndrome | Laxova Opitz syndrome | Waisman syndrome,SNOMEDCT ID:716107009,,,early-onset parkinsonism-intellectual disability syndrome,MONDO:0010709,,MeSH ID:C537179,,,,OMIM ID:311510 +BMGC_DS07706,BMG_DS028550,Pashayan syndrome,UMLS ID:C0796197,Blepharonasofacial malformation syndrome (disorder) | Blepharonasofacial malformation syndrome | Pashayan syndrome | Pashayan Prozansky syndrome,SNOMEDCT ID:717913006,,,blepharonasofacial malformation syndrome,MONDO:0007200,,MeSH ID:C536303,,,,OMIM ID:110050 +BMGC_DS07707,BMG_DS028552,,UMLS ID:C0796200,,,,,Wieacker-Wolff syndrome,MONDO:0010758,,,,,,OMIM ID:314580 +BMGC_DS07708,BMG_DS028554,WOODS SYNDROME,UMLS ID:C0796203,,,,,microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome,MONDO:0014096,,,,,,OMIM ID:615236 +BMGC_DS07709,BMG_DS028555,Worster Drought syndrome,UMLS ID:C0796204,Congenital suprabulbar paresis (disorder) | Congenital suprabulbar paresis | Worster Drought syndrome,SNOMEDCT ID:716335003,,,Worster-Drought syndrome,MONDO:0008503,,MeSH ID:C536747,,,,OMIM ID:185480 +BMGC_DS07710,BMG_DS028556,"SPINOCEREBELLAR ATAXIA, X-LINKED 1",UMLS ID:C0796205,,,,,X-linked progressive cerebellar ataxia,MONDO:0010547,,,X-linked spinocerebellar ataxia 1,DOID:0111829,,OMIM ID:302500 | OMIM ID:300014 +BMGC_DS07711,BMG_DS028558,,UMLS ID:C0796207,,,,,"intellectual disability, X-linked 2",MONDO:0010322,,,,,,OMIM ID:300428 +BMGC_DS07712,BMG_DS028559,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE",UMLS ID:C0796208,,,,,"methylmalonic acidemia with homocystinuria, type cblX",MONDO:0010657,,,methylmalonic acidemia and homocysteinemia cblX type,DOID:0111814,,OMIM ID:309541 | OMIM ID:300019 +BMGC_DS07713,BMG_DS028560,,UMLS ID:C0796215,,,,,"intellectual disability, X-linked 9",MONDO:0010660,,,,,,OMIM ID:309549 +BMGC_DS07714,BMG_DS028561,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12",UMLS ID:C0796218,,,,,X-linked intellectual disability-short stature-overweight syndrome,MONDO:0010496,,,X-linked intellectual disability-short stature-overweight syndrome,DOID:0112056,,OMIM ID:300957 | OMIM ID:300395 +BMGC_DS07715,BMG_DS028562,,UMLS ID:C0796220,,,,,"intellectual disability, X-linked 14",MONDO:0010236,,,,,,OMIM ID:300062 +BMGC_DS07716,BMG_DS028563,RAYNAUD-CLAES SYNDROME,UMLS ID:C0796221,,,,,"intellectual disability, X-linked 49",MONDO:0010250,,,Raynaud-Claes syndrome,DOID:0112060,,OMIM ID:300114 | OMIM ID:302910 +BMGC_DS07717,BMG_DS028564,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13",UMLS ID:C0796222,,,,,X-linked intellectual disability-psychosis-macroorchidism syndrome,MONDO:0010235,,,,,,OMIM ID:300005 | OMIM ID:300055 +BMGC_DS07718,BMG_DS028565,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19",UMLS ID:C0796225,,,,,"intellectual disability, X-linked 19",MONDO:0010447,,,non-syndromic X-linked intellectual disability 19,DOID:0112019,,OMIM ID:300075 | OMIM ID:300844 +BMGC_DS07719,BMG_DS028566,,UMLS ID:C0796226,,,,,"intellectual disability, X-linked 20",MONDO:0010231,,,,,,OMIM ID:300047 +BMGC_DS07720,BMG_DS028567,,UMLS ID:C0796229,,,,,"intellectual disability, X-linked 23",MONDO:0010230,,,,,,OMIM ID:300046 +BMGC_DS07721,BMG_DS028568,Bohring syndrome,UMLS ID:C0796232,Bohring Opitz syndrome (disorder) | Bohring Opitz syndrome | C-like syndrome | Opitz trigonocephaly-like syndrome | Bohring syndrome,SNOMEDCT ID:720565000,,,Bohring-Opitz syndrome,MONDO:0011510,,MeSH ID:C537419,,,,OMIM ID:605039 +BMGC_DS07722,BMG_DS028569,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30",UMLS ID:C0796237,,,,,"intellectual disability, X-linked 30",MONDO:0010361,,,non-syndromic X-linked intellectual disability 30,DOID:0112051,,OMIM ID:300142 | OMIM ID:300558 +BMGC_DS07723,BMG_DS028570,CHROMOSOME Xp11.22 DUPLICATION SYNDROME,UMLS ID:C0796238,,,,,chromosome Xp11.22 duplication syndrome,MONDO:0010406,,,chromosome Xp11.22 duplication syndrome,DOID:0112037,,OMIM ID:300705 +BMGC_DS07724,BMG_DS028571,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29",UMLS ID:C0796244,,,,,"intellectual disability, X-linked, with or without seizures, arx-related",MONDO:0010317,,,non-syndromic X-linked intellectual disability ARX-related,DOID:0112021,,OMIM ID:300382 | OMIM ID:300419 +BMGC_DS07725,BMG_DS028572,Partington syndrome,UMLS ID:C0796250,Partington syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) | Partington-Mulley syndrome | X-linked intellectual deficit-dystonia-dysarthria syndrome | Partington x-linked mental retardation syndrome | Partington X-linked intellectual disability syndrome,SNOMEDCT ID:702412005,,,Partington syndrome,MONDO:0010654,,MeSH ID:C536300,,,,OMIM ID:309510 +BMGC_DS07726,BMG_DS028573,Pettigrew syndrome,UMLS ID:C0796254,"X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) | X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome | Pettigrew syndrome",SNOMEDCT ID:719139003,,,syndromic X-linked intellectual disability 5,MONDO:0010574,,MeSH ID:C535773,syndromic X-linked intellectual disability 5,DOID:0060800,,OMIM ID:304340 +BMGC_DS07727,BMG_DS028575,Sabinas brittle hair syndrome,UMLS ID:C0796271,Sabinas brittle hair syndrome (disorder) | Sabinas brittle hair syndrome,SNOMEDCT ID:1003920007,,,Sabinas brittle hair syndrome,MONDO:0008886,,MeSH ID:C536320,Sabinas brittle hair syndrome,DOID:0111874,,OMIM ID:211390 +BMGC_DS07728,BMG_DS028576,,UMLS ID:C0796274,,,,,Brown-Vialetto-van Laere syndrome 1,MONDO:0024537,,,,,,OMIM ID:211530 +BMGC_DS07729,BMG_DS028577,Brunner Syndrome,UMLS ID:C0796275,,,,,Brunner syndrome,MONDO:0010379,,MeSH ID:C563156,Brunner Syndrome,DOID:0060693,,OMIM ID:300615 +BMGC_DS07730,BMG_DS028579,Carnevale syndrome,UMLS ID:C0796279,,,,,3MC syndrome 2,MONDO:0009927,,MeSH ID:C535586,,,,OMIM ID:265050 +BMGC_DS07731,BMG_DS028580,Acromegaloid facial appearance syndrome,UMLS ID:C0796280,Acromegaloid facial appearance syndrome (disorder) | Acromegaloid facial appearance syndrome,SNOMEDCT ID:720456009,,,acromegaloid facial appearance syndrome,MONDO:0007051,,MeSH ID:C535655,,,,OMIM ID:102150 +BMGC_DS07732,BMG_DS028581,CAHMR syndrome,UMLS ID:C0796282,"Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) | Congenital cataract with hypertrichosis and intellectual disability syndrome | CAHMR syndrome | CAHMR (cataract, hypertrichosis, mental retardation) syndrome",SNOMEDCT ID:722379001,,,cataract-hypertrichosis-intellectual disability syndrome,MONDO:0008894,,MeSH ID:C537959,,,,OMIM ID:211770 +BMGC_DS07733,BMG_DS028584,,UMLS ID:C0796430,,,,,adult choroid plexus neoplasm,MONDO:0002683,,,adult choroid plexus cancer,DOID:3542,, +BMGC_DS07734,BMG_DS028586,,UMLS ID:C0796547,,,,,,,,,Ewing sarcoma,DOID:3369,, +BMGC_DS07735,BMG_DS028587,,UMLS ID:C0796663,,,,,childhood testicular germ cell tumor,MONDO:0003758,,,childhood testicular germ cell tumor,DOID:6082,, +BMGC_DS07736,BMG_DS028588,,UMLS ID:C0796664,,,,,pediatric ovarian germ cell tumor,MONDO:0003760,,,childhood ovarian germ cell tumor,DOID:6084,, +BMGC_DS07737,BMG_DS028590,Branchio-skeleto-genital syndrome,UMLS ID:C0809936,BSG syndrome | Branchio-skeleto-genital syndrome | Branchioskeletogenital syndrome | Branchioskeletogenital syndrome (disorder),SNOMEDCT ID:719097002,,,Elsahy-Waters syndrome,MONDO:0008885,,,,,,OMIM ID:211380 | OMIM ID:603463 +BMGC_DS07738,BMG_DS028594,,UMLS ID:C0812413,,,,,malignant pleural mesothelioma,MONDO:0005112,,,malignant pleural mesothelioma,DOID:7474,, +BMGC_DS07739,BMG_DS028595,,UMLS ID:C0812437,,,,,oculodentodigital dysplasia,MONDO:0008111,,,oculodentodigital dysplasia,DOID:0060291,,OMIM ID:164200 +BMGC_DS07740,BMG_DS028596,Ulnar Nerve Palsy,UMLS ID:C0812454,,,,,,,Ulnar Neuropathies,MeSH ID:D020424,,,, +BMGC_DS07741,BMG_DS028598,Circadian Rhythm Disorders,UMLS ID:C0813142,,,,,,,Chronobiology Disorders,MeSH ID:D021081,,,, +BMGC_DS07742,BMG_DS028599,,UMLS ID:C0813230,,,,,hypertriglyceridemia,MONDO:0005347,,,,,, +BMGC_DS07743,BMG_DS028601,Alcohol Related Neurodevelopmental Disorder,UMLS ID:C0814154,,,,,,,Fetal Alcohol Spectrum Disorders,MeSH ID:D063647,,,, +BMGC_DS07744,BMG_DS028603,Thrombocytosis,UMLS ID:C0836924,Thrombocythaemia | Thrombocythemia | Thrombocytosis | Thrombocythemia (finding) | Thrombocythemia | Thrombocythemia (disorder) | Thrombocythaemia | Thrombocytosis | Platelet count above reference range (finding) | Platelet count above reference range | Thrombocytosis | Increased platelets | Thrombocytosis (disorder) | Thrombocythaemia | Thrombocythemia,SNOMEDCT ID:165557006 | SNOMEDCT ID:79574003 | SNOMEDCT ID:415115007 | SNOMEDCT ID:6631009,,,thrombocytosis disease,MONDO:0002249,Thrombocytosis,MeSH ID:D013922,thrombocytosis,DOID:2228,ICD10 ID:D75.83,OMIM ID:MTHU008388 +BMGC_DS07745,BMG_DS028621,Spastic quadriplegic cerebral palsy,UMLS ID:C0837178,,,Spastic quadriplegic cerebral palsy,ICD11 ID:8D20.10,,,,,,,ICD10 ID:G80.0, +BMGC_DS07746,BMG_DS029146,Rupture of bladder,UMLS ID:C0840564,Rupture of bladder | Rupture of urinary bladder (disorder) | Rupture of urinary bladder | Nontraumatic rupture of bladder | Nontraumatic rupture of bladder (disorder),SNOMEDCT ID:251925007 | SNOMEDCT ID:840001,,,,,,,,,, +BMGC_DS07747,BMG_DS029148,,UMLS ID:C0846967,,,,,acanthoma,MONDO:0002093,,,acanthoma,DOID:174,, +BMGC_DS07748,BMG_DS029156,,UMLS ID:C0848558,,,,,hypospadias,MONDO:0005345,,,hypospadias,DOID:10892,, +BMGC_DS07749,BMG_DS029157,,UMLS ID:C0848866,,,,,eye carcinoma,MONDO:0002466,,,eye carcinoma,DOID:295,, +BMGC_DS07750,BMG_DS029158,,UMLS ID:C0848879,,,,,,,,,trachea carcinoma,DOID:4876,, +BMGC_DS07751,BMG_DS029166,Infection caused by Helicobacter pylori,UMLS ID:C0850666,Infection caused by Helicobacter pylori (disorder) | Infection caused by Helicobacter pylori | Helicobacter pylori infection | Infection caused by H. pylori (Helicobacter pylori),SNOMEDCT ID:721730009,,,,,,,,,, +BMGC_DS07752,BMG_DS029172,,UMLS ID:C0851140,,,,,uterine cervix carcinoma in situ,MONDO:0042487,,,cervix uteri carcinoma in situ,DOID:8991,, +BMGC_DS07753,BMG_DS029189,Pneumocystis Infections,UMLS ID:C0851886,,,,,Pneumocystis infectious disease,MONDO:0005923,Pneumocystis Infections,MeSH ID:D016720,,,, +BMGC_DS07754,BMG_DS029191,,UMLS ID:C0852036,,,,,"hypertension, pregnancy-induced",MONDO:0024664,,,,,, +BMGC_DS07755,BMG_DS029192,"Blood Coagulation Disorders, Inherited",UMLS ID:C0852077,,,,,inherited blood coagulation disorder,MONDO:0021181,"Blood Coagulation Disorders, Inherited",MeSH ID:D025861,,,, +BMGC_DS07756,BMG_DS029195,Respiratory Distress Syndrome,UMLS ID:C0852283,,,,,,,Respiratory Distress Syndrome,MeSH ID:D012128,,,, +BMGC_DS07757,BMG_DS029199,Moraxella Infections,UMLS ID:C0852874,,,,,Moraxellaceae infectious disease,MONDO:0006878,Moraxellaceae Infections,MeSH ID:D045828,,,, +BMGC_DS07758,BMG_DS029202,,UMLS ID:C0852937,,,,,endobronchial lipoma,MONDO:0000961,,,endobronchial lipoma,DOID:10183,, +BMGC_DS07759,BMG_DS029209,,UMLS ID:C0853105,,,,,penile carcinoma,MONDO:0006360,,,penis carcinoma,DOID:3449,, +BMGC_DS07760,BMG_DS029210,,UMLS ID:C0853193,,,,,bipolar I disorder,MONDO:0001866,,,,,, +BMGC_DS07761,BMG_DS029211,,UMLS ID:C0853195,,,,,viral laryngitis,MONDO:0002646,,,viral laryngitis,DOID:3436,, +BMGC_DS07762,BMG_DS029214,,UMLS ID:C0853394,,,,,retinal melanoma,MONDO:0004561,,,retinal melanoma,DOID:8427,, +BMGC_DS07763,BMG_DS029215,,UMLS ID:C0853688,,,,,renal pelvis papillary tumor,MONDO:0003717,,,renal pelvis papillary tumor,DOID:5975,, +BMGC_DS07764,BMG_DS029218,,UMLS ID:C0853697,,,,,neutropenia,MONDO:0001475,,,,,, +BMGC_DS07765,BMG_DS029219,,UMLS ID:C0853715,,,,,breast hemangioma,MONDO:0003126,,,breast hemangioma,DOID:476,, +BMGC_DS07766,BMG_DS029222,,UMLS ID:C0853879,,,,,invasive breast carcinoma,MONDO:0006256,,,,,, +BMGC_DS07767,BMG_DS029223,Diabetic Cardiomyopathies,UMLS ID:C0853897,,,,,,,Diabetic Cardiomyopathies,MeSH ID:D058065,,,, +BMGC_DS07768,BMG_DS029225,Insulin-resistant diabetes mellitus,UMLS ID:C0854110,,,,,,,,,,,,OMIM ID:MTHU002022 +BMGC_DS07769,BMG_DS029226,Ruptured Appendicitis,UMLS ID:C0854119,,,,,,,Appendicitis,MeSH ID:D001064,,,, +BMGC_DS07770,BMG_DS029230,Feeding Disorders,UMLS ID:C0854145,,,,,,,Feeding and Eating Disorders,MeSH ID:D001068,,,, +BMGC_DS07771,BMG_DS029231,Papillary conjunctivitis,UMLS ID:C0854165,Papillary conjunctivitis (disorder) | Papillary conjunctivitis,SNOMEDCT ID:416878008,,,papillary conjunctivitis,MONDO:0002309,,,papillary conjunctivitis,DOID:2458,, +BMGC_DS07772,BMG_DS029232,,UMLS ID:C0854196,,,,,hepatobiliary neoplasm,MONDO:0002514,,,hepatobiliary benign neoplasm,DOID:3117,, +BMGC_DS07773,BMG_DS029233,Bacterial keratitis,UMLS ID:C0854211,Bacterial keratitis | Bacterial keratitis (disorder),SNOMEDCT ID:314557000,,,,,,,,,, +BMGC_DS07774,BMG_DS029235,Bacterial meningitis caused by Gram-negative bacteria,UMLS ID:C0854215,Gram-negative bacterial meningitis | Meningitis with gram negative bacteria | Bacterial meningitis caused by Gram-negative bacteria (disorder) | Bacterial meningitis caused by Gram-negative bacteria,SNOMEDCT ID:425887005,,,bacterial meningitis caused by gram-negative bacteria,MONDO:0041825,,,,,, +BMGC_DS07775,BMG_DS029237,Pneumonia caused by Gram negative bacteria,UMLS ID:C0854248,Gram negative pneumonia | Pneumonia caused by Gram negative bacteria (disorder) | Pneumonia caused by Gram negative bacteria | Pneumonia caused by Gram-negative bacteria,SNOMEDCT ID:430395005,,,pneumonia caused by gram negative bacteria,MONDO:0041850,,,,,, +BMGC_DS07776,BMG_DS029238,Infection caused by anaerobic bacteria,UMLS ID:C0854328,Anaerobic bacterial infection | Infection caused by anaerobic bacteria (disorder) | Infection caused by anaerobic bacteria,SNOMEDCT ID:423451008,,,anaerobic bacteria infectious disease,MONDO:0024389,,,,,, +BMGC_DS07777,BMG_DS029240,,UMLS ID:C0854331,,,,,herpes simplex dermatitis,MONDO:0004712,,,eczema herpeticum,DOID:9123,, +BMGC_DS07778,BMG_DS029245,,UMLS ID:C0854486,,,,,functioning pituitary gland adenoma,MONDO:0003429,,,functioning pituitary adenoma,DOID:5395,, +BMGC_DS07779,BMG_DS029253,,UMLS ID:C0854699,,,,,trichomegaly,MONDO:0008593,,,,,,OMIM ID:190330 +BMGC_DS07780,BMG_DS029255,Retinal Dystrophies,UMLS ID:C0854723,,,,,inherited retinal dystrophy,MONDO:0019118,Retinal Dystrophies,MeSH ID:D058499,fundus dystrophy,DOID:8501,, +BMGC_DS07781,BMG_DS029256,,UMLS ID:C0854795,,,,,,,,,liver cancer,DOID:3571,, +BMGC_DS07782,BMG_DS029257,,UMLS ID:C0854859,,,,,refractory precursor T-lymphoblastic lymphoma/leukemia,MONDO:0004404,,,refractory T lymphoblastic leukemia/lymphoma,DOID:7936,, +BMGC_DS07783,BMG_DS029258,,UMLS ID:C0854883,,,,,,,,,pericardial mesothelioma,DOID:6201,, +BMGC_DS07784,BMG_DS029259,,UMLS ID:C0854886,,,,,,,,,peritoneal mesothelioma,DOID:1788,, +BMGC_DS07785,BMG_DS029260,,UMLS ID:C0854893,,,,,,,,,angiosarcoma,DOID:0001816,, +BMGC_DS07786,BMG_DS029261,,UMLS ID:C0854912,,,,,pineal region germinoma,MONDO:0004216,,,pineal region germinoma,DOID:7428,, +BMGC_DS07787,BMG_DS029262,,UMLS ID:C0854914,,,,,bilateral retinoblastoma,MONDO:0003075,,,bilateral retinoblastoma,DOID:4650,, +BMGC_DS07788,BMG_DS029263,,UMLS ID:C0854915,,,,,unilateral retinoblastoma,MONDO:0003076,,,unilateral retinoblastoma,DOID:4651,, +BMGC_DS07789,BMG_DS029264,,UMLS ID:C0854917,,,,,rhabdoid tumor of the kidney,MONDO:0002729,,,kidney rhabdoid cancer,DOID:3674,, +BMGC_DS07790,BMG_DS029265,,UMLS ID:C0854921,,,,,regional ureteric cancer,MONDO:0001978,,,regional ureteric cancer,DOID:14491,, +BMGC_DS07791,BMG_DS029266,,UMLS ID:C0854924,,,,,endometrial serous adenocarcinoma,MONDO:0006196,,,endometrial serous adenocarcinoma,DOID:5750,, +BMGC_DS07792,BMG_DS029267,,UMLS ID:C0854995,,,,,paranasal sinus carcinoma,MONDO:0000380,,,paranasal sinus cancer,DOID:0050619,, +BMGC_DS07793,BMG_DS029268,,UMLS ID:C0855009,,,,,peripheral primitive neuroectodermal tumor of bone,MONDO:0002981,,,bone peripheral neuroepithelioma,DOID:4388,, +BMGC_DS07794,BMG_DS029269,,UMLS ID:C0855011,,,,,localized chondrosarcoma,MONDO:0003682,,,localized chondrosarcoma,DOID:5862,, +BMGC_DS07795,BMG_DS029270,,UMLS ID:C0855052,,,,,extraosseous osteosarcoma,MONDO:0002621,,,extraosseous osteosarcoma,DOID:3357,, +BMGC_DS07796,BMG_DS029272,,UMLS ID:C0855112,,,,,relapsed/refractory diffuse large B-cell lymphoma,MONDO:0000901,,,,,, +BMGC_DS07797,BMG_DS029274,,UMLS ID:C0855159,,,,,,,,,embryonal carcinoma,DOID:3308,, +BMGC_DS07798,BMG_DS029275,,UMLS ID:C0855163,,,,,immature extragonadal teratoma,MONDO:0024857,,,malignant teratoma,DOID:5563,, +BMGC_DS07799,BMG_DS029276,,UMLS ID:C0855173,,,,,placental choriocarcinoma,MONDO:0006374,,,placental choriocarcinoma,DOID:2024,, +BMGC_DS07800,BMG_DS029277,,UMLS ID:C0855197,,,,,malignant testicular germ cell tumor,MONDO:0003510,,,testicular malignant germ cell cancer,DOID:5556,, +BMGC_DS07801,BMG_DS029286,Acute exacerbation of chronic bronchitis,UMLS ID:C0856695,Acute exacerbation of chronic bronchitis (disorder) | Acute exacerbation of chronic bronchitis | Acute exacerbation of chronic obstructive airways disease | Acute exacerbation of chronic obstructive pulmonary disease | Acute exacerbation of COPD (chronic obstructive pulmonary disease) | Acute exacerbation of chronic obstructive pulmonary disease (disorder),SNOMEDCT ID:425748003 | SNOMEDCT ID:195951007,,,,,,,,,, +BMGC_DS07802,BMG_DS029288,Aneurysm of descending aorta,UMLS ID:C0856750,Aneurysm of descending aorta (disorder) | Aneurysm of descending aorta,SNOMEDCT ID:426948001,,,,,,,,,,OMIM ID:MTHU060236 +BMGC_DS07803,BMG_DS029290,Budd-Chiari Syndrome,UMLS ID:C0856761,,,,,Budd-Chiari syndrome,MONDO:0010947,Budd-Chiari Syndrome,MeSH ID:D006502,,,,OMIM ID:600880 +BMGC_DS07804,BMG_DS029293,,UMLS ID:C0856815,,,,,dehydration polycythemia,MONDO:0002437,,,dehydration polycythemia,DOID:2833,, +BMGC_DS07805,BMG_DS029294,,UMLS ID:C0856817,,,,,physiological polycythemia,MONDO:0004563,,,physiological polycythemia,DOID:8431,, +BMGC_DS07806,BMG_DS029295,,UMLS ID:C0856818,,,,,polycythemia due to hypoxia,MONDO:0005572,,,polycythemia due to hypoxia,DOID:2835,, +BMGC_DS07807,BMG_DS029296,,UMLS ID:C0856825,,,,,acute graft versus host disease,MONDO:0020546,,,,,, +BMGC_DS07808,BMG_DS029297,Chondrocalcinosis 2,UMLS ID:C0856830,,,,,chondrocalcinosis 2,MONDO:0007319,,MeSH ID:C563162,,,,OMIM ID:118600 +BMGC_DS07809,BMG_DS029299,,UMLS ID:C0856897,,,,,acquired hemangioma,MONDO:0003206,,,acquired hemangioma,DOID:492,, +BMGC_DS07810,BMG_DS029300,,UMLS ID:C0856900,,,,,skin sarcoma,MONDO:0006414,,,skin sarcoma,DOID:2687,, +BMGC_DS07811,BMG_DS029301,Retinol Deficiency,UMLS ID:C0856901,,,,,,,,MeSH ID:C536156,,,, +BMGC_DS07812,BMG_DS029304,"Hyperbilirubinemia, Neonatal",UMLS ID:C0857007,,,,,,,"Hyperbilirubinemia, Neonatal",MeSH ID:D051556,,,, +BMGC_DS07813,BMG_DS029314,Staphylococcus Aureus Pneumonia,UMLS ID:C0857862,,,,,staphylococcus aureus pneumonia,MONDO:0041879,"Pneumonia, Staphylococcal",MeSH ID:D011023,,,, +BMGC_DS07814,BMG_DS029316,,UMLS ID:C0858252,,,,,breast adenocarcinoma,MONDO:0004988,,,breast adenocarcinoma,DOID:3458,, +BMGC_DS07815,BMG_DS029317,,UMLS ID:C0858617,,,,,early-onset posterior polar cataract,MONDO:0020378,,,,,, +BMGC_DS07816,BMG_DS029318,Dyschromatopsia,UMLS ID:C0858618,,,,,,,,,,,,OMIM ID:MTHU002533 +BMGC_DS07817,BMG_DS029319,"Blindness, Cortical, Transient",UMLS ID:C0858621,,,,,,,"Blindness, Cortical",MeSH ID:D019575,,,, +BMGC_DS07818,BMG_DS029323,,UMLS ID:C0859036,,,,,diffuse glomerulonephritis,MONDO:0003137,,,diffuse glomerulonephritis,DOID:4781,, +BMGC_DS07819,BMG_DS029327,,UMLS ID:C0859920,,,,,hair follicle neoplasm,MONDO:0003413,,,hair follicle neoplasm,DOID:5375,, +BMGC_DS07820,BMG_DS029329,,UMLS ID:C0859960,,,,,transient hypogammaglobulinemia,MONDO:0003827,,,transient hypogammaglobulinemia,DOID:625,, +BMGC_DS07821,BMG_DS029330,Idiopathic achalasia of esophagus,UMLS ID:C0859976,Idiopathic achalasia of esophagus (disorder) | Idiopathic achalasia of esophagus | Idiopathic achalasia of oesophagus | Idiopathic achalasia | Primary achalasia | Achalasia cardia,SNOMEDCT ID:715192004,,,idiopathic achalasia,MONDO:0019635,,,,,, +BMGC_DS07822,BMG_DS029331,Vaginal Yeast Infections,UMLS ID:C0860029,,,,,,,"Candidiasis, Vulvovaginal",MeSH ID:D002181,,,, +BMGC_DS07823,BMG_DS029333,,UMLS ID:C0860158,,,,,Leydig cell hypoplasia,MONDO:0019155,,,,,, +BMGC_DS07824,BMG_DS029336,Cholestatic liver disease,UMLS ID:C0860204,,,,,,,,,,,,OMIM ID:MTHU026268 +BMGC_DS07825,BMG_DS029337,Drug-Induced Liver Disease,UMLS ID:C0860207,,,,,drug-induced liver injury,MONDO:0005359,Chemical and Drug Induced Liver Injury,MeSH ID:D056486,,,, +BMGC_DS07826,BMG_DS029339,"Hernia, Double Inguinal",UMLS ID:C0860251,,,,,"hernia, double inguinal",MONDO:0007720,,MeSH ID:C563164,,,,OMIM ID:142350 +BMGC_DS07827,BMG_DS029342,Retinoic acid syndrome,UMLS ID:C0860564,Retinoic acid syndrome (disorder) | Retinoic acid syndrome | Differentiation syndrome,SNOMEDCT ID:450887006,,,,,,,,,, +BMGC_DS07828,BMG_DS029343,,UMLS ID:C0860580,,,,,medullary breast carcinoma,MONDO:0005063,,,breast medullary carcinoma,DOID:5605,, +BMGC_DS07829,BMG_DS029348,,UMLS ID:C0861352,,,,,lobular neoplasia,MONDO:0002486,,,lobular neoplasia,DOID:3010,, +BMGC_DS07830,BMG_DS029349,,UMLS ID:C0861854,,,,,adenosquamous bile duct carcinoma,MONDO:0003549,,,adenosquamous bile duct carcinoma,DOID:5624,, +BMGC_DS07831,BMG_DS029350,,UMLS ID:C0861855,,,,,extrahepatic bile duct clear cell adenocarcinoma,MONDO:0004081,,,bile duct clear cell adenocarcinoma,DOID:7032,, +BMGC_DS07832,BMG_DS029351,,UMLS ID:C0861856,,,,,extrahepatic bile duct mucinous adenocarcinoma,MONDO:0002739,,,bile duct mucinous adenocarcinoma,DOID:3698,, +BMGC_DS07833,BMG_DS029352,,UMLS ID:C0861858,,,,,papillary extrahepatic bile duct adenocarcinoma,MONDO:0004039,,,papillary extrahepatic bile duct adenocarcinoma,DOID:6931,, +BMGC_DS07834,BMG_DS029353,,UMLS ID:C0861859,,,,,extrahepatic bile duct signet ring cell carcinoma,MONDO:0002664,,,bile duct signet ring cell carcinoma,DOID:3494,, +BMGC_DS07835,BMG_DS029354,,UMLS ID:C0861861,,,,,squamous cell bile duct carcinoma,MONDO:0003500,,,squamous cell bile duct carcinoma,DOID:5537,, +BMGC_DS07836,BMG_DS029355,,UMLS ID:C0862030,,,,,,,,,B-lymphoblastic leukemia/lymphoma,DOID:0080630,, +BMGC_DS07837,BMG_DS029357,,UMLS ID:C0862312,,,,,malignant epithelioid mesothelioma,MONDO:0005599,,,malignant epithelial mesothelioma,DOID:4489,, +BMGC_DS07838,BMG_DS029359,,UMLS ID:C0863015,,,,,urethra transitional cell carcinoma,MONDO:0002836,,,urethra transitional cell carcinoma,DOID:4013,, +BMGC_DS07839,BMG_DS029360,,UMLS ID:C0863024,,,,,rete testis adenocarcinoma,MONDO:0001992,,,rete testis adenocarcinoma,DOID:14544,, +BMGC_DS07840,BMG_DS029361,,UMLS ID:C0863027,,,,,testicular Leydig cell tumor,MONDO:0003124,,,testicular Leydig cell tumor,DOID:4756,, +BMGC_DS07841,BMG_DS029362,,UMLS ID:C0863029,,,,,,,,,Ewing sarcoma,DOID:3369,, +BMGC_DS07842,BMG_DS029386,Polycythemia due to fall in plasma volume,UMLS ID:C0865275,,,"Acquired polycythaemia, unspecified",ICD11 ID:3A81.Z,,,,,familial erythrocytosis 2,DOID:0060474,ICD10 ID:D75.1, +BMGC_DS07843,BMG_DS029389,Idiopathic Parkinsonism or Parkinson's disease,UMLS ID:C0865475,,,,,,,,,Parkinson's disease 19A | Parkinson's disease 23 | Parkinson's disease 4,DOID:0060891;DOID:0060896;DOID:0060895,ICD10 ID:G20, +BMGC_DS07844,BMG_DS029390,Primary Parkinsonism or Parkinson's disease,UMLS ID:C0865476,,,,,,,,,Parkinson's disease 19A | Parkinson's disease 23 | Parkinson's disease 4,DOID:0060891;DOID:0060896;DOID:0060895,ICD10 ID:G20, +BMGC_DS07845,BMG_DS029402,,UMLS ID:C0865849,,,,,diffuse pulmonary fibrosis,MONDO:0003563,,,diffuse pulmonary fibrosis,DOID:5641,, +BMGC_DS07846,BMG_DS029415,Chronic graft-versus-host disease,UMLS ID:C0867389,Chronic graft-versus-host disease (disorder) | Chronic graft-versus-host disease | Chronic graft versus host disease,SNOMEDCT ID:402356004,,,chronic graft versus host disease,MONDO:0020547,,,,,ICD10 ID:D89.811, +BMGC_DS07847,BMG_DS029420,Late neonatal hypocalcemia,UMLS ID:C0869150,Late neonatal hypocalcemia | Hypocalcaemic tetany in newborn | Late neonatal hypocalcaemia | Hypocalcemic tetany in newborn | Late neonatal hypocalcemia (disorder),SNOMEDCT ID:240307008,,,,,,,,,, +BMGC_DS07848,BMG_DS029425,Carditis,UMLS ID:C0869523,Carditis (disorder) | Carditis,SNOMEDCT ID:399617002,,,inflammation of heart layer,MONDO:0024636,Myocarditis,MeSH ID:D009205,,,, +BMGC_DS07849,BMG_DS029429,Hyperkeratosis,UMLS ID:C0870082,Hyperkeratosis | Hyperkeratosis (disorder) | Hyperkeratosis | Keratosis | Excessive cornification | Skin callus | Callosity | Keratoma | Tyloma | Tylosis | Hyperkeratosis (morphologic abnormality) | Hyperkeratosis of skin | Acquired keratoderma palmaris et plantaris | Keratoderma climactericum | Hyperkeratosis palmoplantaris climacterica | HK - Hyperkeratosis | Acquired keratosis palmaris et plantaris | Hyperkeratosis | Hyperkeratosis (disorder) | Hyperkeratosis (disorder) | Hyperkeratosis | HK - Hyperkeratosis | Hyperkeratosis of skin,SNOMEDCT ID:201059003 | SNOMEDCT ID:238623003 | SNOMEDCT ID:26996000 | SNOMEDCT ID:20637002 | SNOMEDCT ID:396228006,,,,,,,,,,OMIM ID:MTHU001049 +BMGC_DS07850,BMG_DS029433,Sarcopenia,UMLS ID:C0872084,Sarcopenia | Sarcopenia (disorder) | Loss of skeletal muscle mass,SNOMEDCT ID:772791006,,,obsolete sarcopenia,MONDO:0006516,Sarcopenia,MeSH ID:D055948,,,ICD10 ID:M62.84, +BMGC_DS07851,BMG_DS029434,,UMLS ID:C0872218,,,,,mitochondrial neurogastrointestinal encephalomyopathy,MONDO:0017575,,,,,, +BMGC_DS07852,BMG_DS029440,,UMLS ID:C0877024,,,,,Schimke immuno-osseous dysplasia,MONDO:0009458,,,Schimke immuno-osseous dysplasia,DOID:0060490,,OMIM ID:242900 +BMGC_DS07853,BMG_DS029449,Patellofemoral Pain Syndrome,UMLS ID:C0877149,,,,,patellofemoral pain syndrome,MONDO:0006894,Patellofemoral Pain Syndrome,MeSH ID:D046788,patellofemoral pain syndrome,DOID:14284,, +BMGC_DS07854,BMG_DS029450,,UMLS ID:C0877152,,,,,necrotizing gastritis,MONDO:0002845,,,necrotizing gastritis,DOID:4037,, +BMGC_DS07855,BMG_DS029454,Peripartum cardiomyopathy,UMLS ID:C0877208,,,Cardiomyopathy in the puerperium,ICD11 ID:JB44.3,peripartum cardiomyopathy,MONDO:0018920,,,peripartum cardiomyopathy,DOID:9997,ICD10 ID:O90.3, +BMGC_DS07856,BMG_DS029460,,UMLS ID:C0877367,,,,,thyroid malformation,MONDO:0004564,,,thyroid malformation,DOID:8433,, +BMGC_DS07857,BMG_DS029461,,UMLS ID:C0877388,,,,,cerebral hemangioma,MONDO:0003948,,,cerebral angioma,DOID:6621,, +BMGC_DS07858,BMG_DS029464,Exostoses Of Heel,UMLS ID:C0877431,,,,,obsolete exostoses of heel,MONDO:0007583,,MeSH ID:C563167,,,,OMIM ID:133600 +BMGC_DS07859,BMG_DS029466,Candidemia,UMLS ID:C0877445,Candidemia (disorder) | Candidemia,SNOMEDCT ID:432261003,,,candidemia,MONDO:0044070,Candidemia,MeSH ID:D058387,,,, +BMGC_DS07860,BMG_DS029469,,UMLS ID:C0877572,,,,,ovarian serous cystadenofibroma,MONDO:0004185,,,ovarian serous cystadenofibroma,DOID:7320,, +BMGC_DS07861,BMG_DS029470,,UMLS ID:C0877611,,,,,cervix melanoma,MONDO:0002988,,,cervix melanoma,DOID:4413,, +BMGC_DS07862,BMG_DS029473,,UMLS ID:C0877849,,,,,Askin tumor,MONDO:0006094,,,Ewing sarcoma,DOID:3369,, +BMGC_DS07863,BMG_DS029474,Cerebral Arteriosclerosis,UMLS ID:C0877854,,,,,,,Intracranial Arteriosclerosis,MeSH ID:D002537,,,, +BMGC_DS07864,BMG_DS029475,Cerebral Embolism and Thrombosis,UMLS ID:C0877855,,,,,,,Intracranial Embolism and Thrombosis,MeSH ID:D002542,,,, +BMGC_DS07865,BMG_DS029476,,UMLS ID:C0877858,,,,,aleukemic leukemia,MONDO:0003730,,,aleukemic leukemia,DOID:6004,, +BMGC_DS07866,BMG_DS029478,Arteriolosclerosis,UMLS ID:C0878486,Arteriolosclerosis | Arteriolosclerosis (morphologic abnormality),SNOMEDCT ID:17941002,,,arteriolosclerosis,MONDO:0006658,Arteriolosclerosis,MeSH ID:D050379,arteriolosclerosis,DOID:5162,, +BMGC_DS07867,BMG_DS029483,Cardiomyopathies,UMLS ID:C0878544,,,,,cardiomyopathy,MONDO:0004994,Cardiomyopathies,MeSH ID:D009202,cardiomyopathy,DOID:0050700,, +BMGC_DS07868,BMG_DS029484,Diffuse panbronchiolitis,UMLS ID:C0878555,Diffuse panbronchiolitis (disorder) | Diffuse panbronchiolitis,SNOMEDCT ID:430476004,,,diffuse panbronchiolitis,MONDO:0011490,,MeSH ID:C536174,,,,OMIM ID:604809 +BMGC_DS07869,BMG_DS029486,Posterior Leukoencephalopathy Syndrome,UMLS ID:C0878576,,,,,posterior leukoencephalopathy syndrome,MONDO:0044033,Posterior Leukoencephalopathy Syndrome,MeSH ID:D054038,,,, +BMGC_DS07870,BMG_DS029488,,UMLS ID:C0878587,,,,,"acetylation, slow",MONDO:0009472,,,,,,OMIM ID:243400 +BMGC_DS07871,BMG_DS029489,Sphincter of Oddi Dysfunction,UMLS ID:C0878588,,,,,,,Sphincter of Oddi Dysfunction,MeSH ID:D046628,,,, +BMGC_DS07872,BMG_DS029492,Erdheim-Chester Disease,UMLS ID:C0878675,,,,,Erdheim-Chester disease,MONDO:0018153,Erdheim-Chester Disease,MeSH ID:D031249,Erdheim-Chester disease,DOID:4329,, +BMGC_DS07873,BMG_DS029493,6-pyruvoyl-tetrahydropterin synthase deficiency,UMLS ID:C0878676,,,,,BH4-deficient hyperphenylalaninemia A,MONDO:0009863,,MeSH ID:C535325,BH4-deficient hyperphenylalaninemia A,DOID:0090106,,OMIM ID:261640 +BMGC_DS07874,BMG_DS029494,Glycogen Storage Disease Type IIb,UMLS ID:C0878677,,,,,Danon disease,MONDO:0010281,Glycogen Storage Disease Type IIb,MeSH ID:D052120,Danon disease,DOID:0050437,,OMIM ID:300257 +BMGC_DS07875,BMG_DS029495,Dent's disease,UMLS ID:C0878681,Dent's disease (disorder) | Dent disease | Dent's disease,SNOMEDCT ID:444645005,,,Dent disease,MONDO:0015612,,,Dent disease,DOID:0050699,, +BMGC_DS07876,BMG_DS029496,Deficiency of ferroxidase (disorder),UMLS ID:C0878682,Deficiency of ceruloplasmin | Deficiency of ferroxidase | Deficiency of caeruloplasmin | Deficiency of ferroxidase (disorder),SNOMEDCT ID:124224004,,,aceruloplasminemia,MONDO:0011426,,,,,,OMIM ID:604290 +BMGC_DS07877,BMG_DS029497,,UMLS ID:C0878683,,,,,"pituitary hormone deficiency, combined, 2",MONDO:0009878,,,,,,OMIM ID:262600 +BMGC_DS07878,BMG_DS029498,SHORT syndrome,UMLS ID:C0878684,,,,,SHORT syndrome,MONDO:0010026,,MeSH ID:C537327,SHORT syndrome,DOID:0111454,,OMIM ID:269880 +BMGC_DS07879,BMG_DS029499,Conjunctivochalasis,UMLS ID:C0878693,Conjunctivochalasis (disorder) | Conjunctivochalasis | Chronic localized conjunctival chemosis | Chronic localised conjunctival chemosis,SNOMEDCT ID:408663001,,,conjunctivochalasis,MONDO:0002931,,,conjunctivochalasis,DOID:4250,ICD10 ID:H11.82, +BMGC_DS07880,BMG_DS029503,Synovial Plica Syndrome,UMLS ID:C0878705,,,,,,,Synovitis,MeSH ID:D013585,Plica syndrome,DOID:12225,, +BMGC_DS07881,BMG_DS029504,Overactive Bladder,UMLS ID:C0878773,,,,,overactive bladder,MONDO:0006624,"Urinary Bladder, Overactive",MeSH ID:D053201,overactive bladder syndrome,DOID:0070355,, +BMGC_DS07882,BMG_DS029506,,UMLS ID:C0879257,,,,,hereditary papillary renal cell carcinoma,MONDO:0003789,,,familial renal papillary carcinoma,DOID:6163,,OMIM ID:605074 +BMGC_DS07883,BMG_DS029507,,UMLS ID:C0879606,,,,,hereditary kidney oncocytoma,MONDO:0003824,,,familial renal oncocytoma,DOID:6244,, +BMGC_DS07884,BMG_DS029508,Posterior Choroidal Artery Infarction,UMLS ID:C0887799,,,,,,,Cerebral Infarction,MeSH ID:D002544,,,, +BMGC_DS07885,BMG_DS029510,,UMLS ID:C0887833,,,,,,,,,pancreatic ductal carcinoma,DOID:3587,, +BMGC_DS07886,BMG_DS029511,,UMLS ID:C0887846,,,,,aleukemic leukemia cutis,MONDO:0003729,,,aleukemic leukemia cutis,DOID:6003,, +BMGC_DS07887,BMG_DS029512,"Polycystic Kidney, Type 1 Autosomal Dominant Disease",UMLS ID:C0887850,,,,,polycystic liver disease 1,MONDO:0008265,"Polycystic Kidney, Autosomal Dominant",MeSH ID:D016891,,,,OMIM ID:174050 +BMGC_DS07888,BMG_DS029516,Becker Muscular Dystrophy,UMLS ID:C0917713,,,,,Becker muscular dystrophy,MONDO:0010311,"Muscular Dystrophy, Duchenne",MeSH ID:D020388,,,,OMIM ID:300376 +BMGC_DS07889,BMG_DS029517,Hajdu-Cheney Syndrome,UMLS ID:C0917715,,,,,Acroosteolysis dominant type,MONDO:0007057,Hajdu-Cheney Syndrome,MeSH ID:D031845,Hajdu-Cheney syndrome,DOID:2736,,OMIM ID:102500 +BMGC_DS07890,BMG_DS029518,Pulmonic Plague,UMLS ID:C0917716,,,,,,,Plague,MeSH ID:D010930,,,, +BMGC_DS07891,BMG_DS029519,"Optic Atrophy, Hereditary, Leber",UMLS ID:C0917796,,,,,Leber hereditary optic neuropathy,MONDO:0010788,"Optic Atrophy, Hereditary, Leber",MeSH ID:D029242,Leber hereditary optic neuropathy,DOID:705,,OMIM ID:535000 +BMGC_DS07892,BMG_DS029520,,UMLS ID:C0917798,,,,,brain ischemia,MONDO:0005299,,,,,, +BMGC_DS07893,BMG_DS029521,Hypersomnia,UMLS ID:C0917799,Hypersomnia | Hypersomnia (disorder) | Excessive sleep | Sleeps too much | Excessive sleepiness | Hypersomnia (excessive sleeping),SNOMEDCT ID:77692006,Idiopathic hypersomnia,ICD11 ID:7A21,hypersomnia,MONDO:0005466,Disorders of Excessive Somnolence,MeSH ID:D006970,,,ICD10 ID:G47.1,OMIM ID:MTHU062007 +BMGC_DS07894,BMG_DS029522,"Epilepsy, Myoclonic, Infantile",UMLS ID:C0917800,,,,,familial infantile myoclonic epilepsy,MONDO:0011506,"Epilepsies, Myoclonic",MeSH ID:D004831,,,,OMIM ID:605021 +BMGC_DS07895,BMG_DS029523,,UMLS ID:C0917801,,,,,insomnia,MONDO:0013600,,,,,, +BMGC_DS07896,BMG_DS029524,,UMLS ID:C0917804,,,,,arteriovenous malformations of the brain,MONDO:0007154,,,,,,OMIM ID:108010 +BMGC_DS07897,BMG_DS029525,Transient Cerebral Ischemia,UMLS ID:C0917805,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS07898,BMG_DS029526,Haemophilus influenzae Meningitis Type B,UMLS ID:C0917807,,,,,,,"Meningitis, Haemophilus",MeSH ID:D008583,haemophilus meningitis,DOID:0080179,, +BMGC_DS07899,BMG_DS029528,Nerve Entrapment,UMLS ID:C0917811,,,,,,,Nerve Compression Syndromes,MeSH ID:D009408,,,, +BMGC_DS07900,BMG_DS029529,Tetanilla,UMLS ID:C0917812,,,,,,,Tetany,MeSH ID:D013746,,,, +BMGC_DS07901,BMG_DS029531,,UMLS ID:C0917875,,,,,esophageal diverticulosis,MONDO:0006754,,,esophageal diverticulosis,DOID:13185,, +BMGC_DS07902,BMG_DS029534,Progressive Muscular Atrophy,UMLS ID:C0917981,,,,,,,"Muscular Atrophy, Spinal",MeSH ID:D009134,progressive muscular atrophy,DOID:318,, +BMGC_DS07903,BMG_DS029535,Acro-Osteolysis,UMLS ID:C0917990,,,,,acroosteolysis,MONDO:0007056,Acro-Osteolysis,MeSH ID:D030981,Hajdu-Cheney syndrome,DOID:2736,,OMIM ID:102400 +BMGC_DS07904,BMG_DS029536,Cerebral Aneurysm,UMLS ID:C0917996,,,,,,,Intracranial Aneurysm,MeSH ID:D002532,,,, +BMGC_DS07905,BMG_DS029537,,UMLS ID:C0919267,,,,,ovarian neoplasm,MONDO:0021068,,,ovarian cancer,DOID:2394,, +BMGC_DS07906,BMG_DS029538,Decreased Intraocular Pressure-Associated Papilledema,UMLS ID:C0919308,,,,,,,Papilledema,MeSH ID:D010211,optic papillitis,DOID:10175,, +BMGC_DS07907,BMG_DS029542,"Upper Extremity Deep Vein Thrombosis, Primary",UMLS ID:C0919631,,,,,,,Upper Extremity Deep Vein Thrombosis,MeSH ID:D056824,,,, +BMGC_DS07908,BMG_DS029543,,UMLS ID:C0919638,,,,,postauricular lymphadenitis,MONDO:0003068,,,postauricular lymphadenitis,DOID:4638,, +BMGC_DS07909,BMG_DS029548,Cytokine Storm,UMLS ID:C0919747,,,,,,,Cytokine Release Syndrome,MeSH ID:D000080424,,,, +BMGC_DS07910,BMG_DS029549,,UMLS ID:C0919797,,,,,axillary lymphadenitis,MONDO:0003070,,,axillary adenitis,DOID:4640,, +BMGC_DS07911,BMG_DS029560,,UMLS ID:C0920196,,,,,eyelid carcinoma,MONDO:0003876,,,eyelid carcinoma,DOID:6425,, +BMGC_DS07912,BMG_DS029562,,UMLS ID:C0920305,,,,,small intestine leiomyosarcoma,MONDO:0003360,,,small intestine leiomyosarcoma,DOID:5271,, +BMGC_DS07913,BMG_DS029564,,UMLS ID:C0920349,,,,,,,,,"spondyloepimetaphyseal dysplasia, Sponastrime type",DOID:5684,, +BMGC_DS07914,BMG_DS029565,Autoimmune thyroiditis,UMLS ID:C0920350,Hashimoto thyroiditis | Autoimmune lymphocytic chronic thyroiditis | Lymphocytic thyroiditis | Struma lymphomatosa | Hashimoto's disease | Struma lymphomatosis | Chronic lymphocytic thyroiditis | Hashimoto's thyroiditis | Hashimoto thyroiditis (disorder) | Autoimmune thyroiditis | Autoimmune thyroiditis (disorder) | Hashimoto's disease | Autoimmune thyroiditis | Chronic lymphocytic thyroiditis | Thyroiditis: [chronic lymphocytic] or [autoimmune] or [Hashimoto's] | Thyroiditis: [chronic lymphocytic] or [autoimmune] or [Hashimoto's] (disorder),SNOMEDCT ID:21983002 | SNOMEDCT ID:66944004 | SNOMEDCT ID:190297000,"Autoimmune thyroiditis, unspecified",ICD11 ID:5A03.2Z,autoimmune thyroid disease,MONDO:0005623,,,autoimmune thyroiditis,DOID:7188,ICD10 ID:E06.3,OMIM ID:MTHU037300 +BMGC_DS07915,BMG_DS029569,Testicular Feminization,UMLS ID:C0936016,,,,,complete androgen insensitivity syndrome,MONDO:0021023,Androgen-Insensitivity Syndrome,MeSH ID:D013734,complete androgen insensitivity syndrome,DOID:0080775,, +BMGC_DS07916,BMG_DS029570,Vitamin B 6 Deficiency,UMLS ID:C0936215,,,,,,,Vitamin B 6 Deficiency,MeSH ID:D026681,pyridoxine deficiency anemia,DOID:8455,, +BMGC_DS07917,BMG_DS029572,HIV-1-Associated Cognitive Motor Complex,UMLS ID:C0936243,,,,,,,AIDS Dementia Complex,MeSH ID:D015526,,,, +BMGC_DS07918,BMG_DS029574,Brain Embolism and Thrombosis,UMLS ID:C0936247,,,,,,,Intracranial Embolism and Thrombosis,MeSH ID:D002542,,,, +BMGC_DS07919,BMG_DS029575,,UMLS ID:C0936248,,,,,chondroma,MONDO:0002360,,,chondroma,DOID:2602,, +BMGC_DS07920,BMG_DS029576,Eczema Herpeticum,UMLS ID:C0936250,,,,,,,Kaposi Varicelliform Eruption,MeSH ID:D007617,eczema herpeticum,DOID:9123,, +BMGC_DS07921,BMG_DS029577,Polyradiculitis,UMLS ID:C0936251,,,,,,,Polyradiculopathy,MeSH ID:D011128,,,, +BMGC_DS07922,BMG_DS029579,Lysine Alpha-Ketoglutarate Reductase Deficiency Disease,UMLS ID:C0936256,,,,,,,Hyperlysinemias,MeSH ID:D020167,,,, +BMGC_DS07923,BMG_DS029581,Brain Thrombus,UMLS ID:C0936261,,,,,,,Intracranial Thrombosis,MeSH ID:D020767,,,, +BMGC_DS07924,BMG_DS029582,Cerebral Thrombus,UMLS ID:C0936263,,,,,,,Intracranial Thrombosis,MeSH ID:D020767,,,, +BMGC_DS07925,BMG_DS029583,"Familial Amyloid Polyneuropathy, Type IV",UMLS ID:C0936273,,,,,,,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS07926,BMG_DS029584,,UMLS ID:C0936282,,,,,blastoma,MONDO:0005565,,,embryoma,DOID:4766,, +BMGC_DS07927,BMG_DS029585,,UMLS ID:C0940607,,,,,lipoma of colon,MONDO:0001091,,,lipoma of colon,DOID:10655,, +BMGC_DS07928,BMG_DS029593,Cholecystolithiasis,UMLS ID:C0947622,Biliary calculus | Biliary calculus (disorder) | Cholecystolithiasis | Gallstones | Gallbladder stones | Gallbladder calculus | GS - Gallstone | Gallstone | Gallbladder calculus (disorder),SNOMEDCT ID:44900007 | SNOMEDCT ID:235919008,,,cholecystolithiasis,MONDO:0006698,Cholecystolithiasis,MeSH ID:D041761,cholecystolithiasis,DOID:11151,, +BMGC_DS07929,BMG_DS029596,Ischemic stroke,UMLS ID:C0948008,Ischemic stroke (disorder) | Ischemic stroke | Ischaemic stroke,SNOMEDCT ID:422504002,,,,,,,,,,OMIM ID:MTHU000098 +BMGC_DS07930,BMG_DS029597,Gastritis caused by bacterium,UMLS ID:C0948039,Gastritis caused by bacterium (disorder) | Gastritis caused by bacterium | Bacterial gastritis,SNOMEDCT ID:723096000,,,bacterial gastritis,MONDO:0002842,,,bacterial gastritis,DOID:4033,, +BMGC_DS07931,BMG_DS029601,Acute Coronary Syndrome,UMLS ID:C0948089,,,,,acute coronary syndrome,MONDO:0005542,Acute Coronary Syndrome,MeSH ID:D054058,,,, +BMGC_DS07932,BMG_DS029605,Tracheomalacia,UMLS ID:C0948187,Tracheomalacia | Tracheomalacia (disorder) | (Respiratory disease NOS) or (adult respiratory distress syndrome) or (pneumomediastinum) or (tracheomalacia) | Resp. distress synd. - adult | Respirat distress synd-adult | Pneumomediastinum | Pmeumomediastinum | Respiratory disease NOS | Tracheomalacia | Adult respiratory distress syndrome | (Respiratory disease NOS) or (adult respiratory distress syndrome) or (pneumomediastinum) or (tracheomalacia) (disorder) | Tracheomalacia | Respirat distress synd-adult | Pmeumomediastinum | Resp. distress synd. - adult | Respiratory disease NOS | Pneumomediastinum | Adult respiratory distress syndrome | (Respiratory disease NOS) or (adult respiratory distress syndrome) or (pneumomediastinum) or (tracheomalacia) | (Respiratory disease NOS) or (adult respiratory distress syndrome) or (pneumomediastinum) or (tracheomalacia) (disorder),SNOMEDCT ID:95434006 | SNOMEDCT ID:155627006 | SNOMEDCT ID:266411000,,,tracheomalacia,MONDO:0019804,Tracheomalacia,MeSH ID:D055090,,,,OMIM ID:MTHU012591 +BMGC_DS07933,BMG_DS029607,Infection caused by Citrobacter,UMLS ID:C0948204,Infection caused by Citrobacter | Infection caused by Citrobacter (disorder) | Citrobacter infection,SNOMEDCT ID:1137353009,,,,,,,,,, +BMGC_DS07934,BMG_DS029609,,UMLS ID:C0948216,,,,,ovarian adenocarcinoma,MONDO:0002752,,,ovary adenocarcinoma,DOID:3713,, +BMGC_DS07935,BMG_DS029611,Cytokine Release Syndrome,UMLS ID:C0948245,,,,,cytokine release syndrome,MONDO:0600008,Cytokine Release Syndrome,MeSH ID:D000080424,,,, +BMGC_DS07936,BMG_DS029614,Hemodynamic instability,UMLS ID:C0948268,Hemodynamic instability (finding) | Haemodynamic instability | Hemodynamic instability,SNOMEDCT ID:422773005,,,,,,,,,,OMIM ID:MTHU070057 +BMGC_DS07937,BMG_DS029621,,UMLS ID:C0948368,,,,,McKusick-Kaufman syndrome,MONDO:0009367,,,McKusick-Kaufman syndrome,DOID:0111255,,OMIM ID:236700 +BMGC_DS07938,BMG_DS029629,Coronary Restenosis,UMLS ID:C0948480,,,,,coronary restenosis,MONDO:0005355,Coronary Restenosis,MeSH ID:D023903,coronary restenosis,DOID:4247,, +BMGC_DS07939,BMG_DS029635,Gastritis caused by fungus,UMLS ID:C0948638,Gastritis caused by fungus (disorder) | Gastritis caused by fungus | Fungal gastritis,SNOMEDCT ID:723097009,,,fungal gastritis,MONDO:0002843,,,fungal gastritis,DOID:4034,, +BMGC_DS07940,BMG_DS029638,,UMLS ID:C0948740,,,,,pituitary hypoplasia,MONDO:0004201,,,pituitary hypoplasia,DOID:7378,, +BMGC_DS07941,BMG_DS029639,,UMLS ID:C0948749,,,,,retroperitoneum carcinoma,MONDO:0001502,,,retroperitoneum carcinoma,DOID:12342,, +BMGC_DS07942,BMG_DS029640,,UMLS ID:C0948750,,,,,salivary gland carcinoma,MONDO:0000521,,,,,, +BMGC_DS07943,BMG_DS029643,Gastrointestinal hypomotility,UMLS ID:C0948779,Gastrointestinal hypomotility (disorder) | Gastrointestinal hypomotility,SNOMEDCT ID:421807004,,,,,,,,,, +BMGC_DS07944,BMG_DS029646,Primary hypogonadism,UMLS ID:C0948896,Primary hypogonadism (disorder) | Primary hypogonadism | Hypergonadotropic hypogonadism,SNOMEDCT ID:370999003,,,,,,,,,,OMIM ID:MTHU055789 +BMGC_DS07945,BMG_DS029648,,UMLS ID:C0948967,,,,,intraductal breast neoplasm,MONDO:0002488,,,intraductal breast benign neoplasm,DOID:3013,, +BMGC_DS07946,BMG_DS029649,,UMLS ID:C0949022,,,,,rectal cancer,MONDO:0006519,,,rectum cancer,DOID:1993,, +BMGC_DS07947,BMG_DS029651,,UMLS ID:C0949059,,,,,polyp of large intestine,MONDO:0021392,,,,,, +BMGC_DS07948,BMG_DS029652,Hospital acquired pneumonia,UMLS ID:C0949083,Nosocomial pneumonia (disorder) | Nosocomial pneumonia | Hospital acquired pneumonia | HAP - hospital acquired pneumonia,SNOMEDCT ID:425464007,,,,,,,,,, +BMGC_DS07949,BMG_DS029653,Congenital hypoplastic anemia,UMLS ID:C0949116,Chronic constitutional pure red cell anemia | Congenital hypoplastic anemia | Diamond-Blackfan anemia | Familial hypoplastic anemia | Chronic constitutional pure red cell aplasia | Chronic constitutional pure red cell anaemia | Congenital hypoplastic anaemia | Diamond-Blackfan anaemia | Familial hypoplastic anaemia | Congenital erythroid hypoplasia | Congenital red cell aplasia | Diamond-Blackfan syndrome | Adenosine deaminase superactivity (disorder) | Constitutional aplastic anaemia without mention of malformation | Congenital hypoplastic anaemia | Congenital hypoplastic anemia | Constitutional aplastic anemia without mention of malformation | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] | Anemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] | Anaemia: [congenital hypoplastic] or [constitutional aplastic without mention of malformation] (disorder),SNOMEDCT ID:188588001 | SNOMEDCT ID:191236003,,,,,,,congenital hypoplastic anemia,DOID:1342,,OMIM ID:MTHU011578 +BMGC_DS07950,BMG_DS029654,Acute laryngitis with obstruction,UMLS ID:C0949123,Acute laryngitis with obstruction (disorder) | Acute laryngitis with obstruction,SNOMEDCT ID:408669002,,,,,,,acute laryngitis,DOID:9396,, +BMGC_DS07951,BMG_DS029664,Ileocolitis,UMLS ID:C0949272,,,,,ileocolitis,MONDO:0005534,Crohn Disease,MeSH ID:D003424,,,, +BMGC_DS07952,BMG_DS029665,,UMLS ID:C0949331,,,,,gonadal agenesis,MONDO:0010838,,,,,,OMIM ID:600171 +BMGC_DS07953,BMG_DS029666,Neonatal Diseases and Abnormalities,UMLS ID:C0949367,,,,,,,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities",MeSH ID:D009358,,,, +BMGC_DS07954,BMG_DS029667,Luft Disease,UMLS ID:C0949496,,,,,,,Mitochondrial Myopathies,MeSH ID:D017240,,,, +BMGC_DS07955,BMG_DS029669,Porokeratosis of Mibelli,UMLS ID:C0949506,Porokeratosis of Mibelli | Porokeratosis of Mibelli (disorder) | Porokeratosis of Mibelli | Mibelli's disease | Porokeratosis of Mibelli (disorder),SNOMEDCT ID:201087007 | SNOMEDCT ID:80432009,,,porokeratosis of Mibelli,MONDO:0019141,Porokeratosis,MeSH ID:D017499,,,,OMIM ID:MTHU048670 +BMGC_DS07956,BMG_DS029670,,UMLS ID:C0949570,,,,,,,,,wheat allergy,DOID:3660,, +BMGC_DS07957,BMG_DS029671,,UMLS ID:C0949595,,,,,ovarian dysgenesis 1,MONDO:0024463,,,46 XX gonadal dysgenesis,DOID:14450,,OMIM ID:233300 +BMGC_DS07958,BMG_DS029673,"Cardiomyopathy, Hypertrophic, Familial",UMLS ID:C0949658,,,,,familial hypertrophic cardiomyopathy,MONDO:0024573,"Cardiomyopathy, Hypertrophic, Familial",MeSH ID:D024741,familial hypertrophic cardiomyopathy,DOID:0080326,, +BMGC_DS07959,BMG_DS029674,Tauopathies,UMLS ID:C0949664,,,,,tauopathy,MONDO:0005574,Tauopathies,MeSH ID:D024801,tauopathy,DOID:680,, +BMGC_DS07960,BMG_DS029676,Spondylarthritis,UMLS ID:C0949690,Arthritis of spine (disorder) | Arthritis of spine | Inflammatory spondylopathy,SNOMEDCT ID:371082009,,,inflammatory spondylopathy,MONDO:0001434,Spondylarthritis,MeSH ID:D025241,,,, +BMGC_DS07961,BMG_DS029677,Spondylarthropathies,UMLS ID:C0949691,,,,,spondyloarthropathy,MONDO:0005095,Spondylarthropathies,MeSH ID:D025242,spondyloarthropathy,DOID:1123,, +BMGC_DS07962,BMG_DS029678,Polyomavirus Infections,UMLS ID:C0949804,,,,,polyomavirus infectious disease,MONDO:0005927,Polyomavirus Infections,MeSH ID:D027601,,,, +BMGC_DS07963,BMG_DS029679,"Electron Transport Chain Deficiencies, Mitochondrial",UMLS ID:C0949855,,,,,,,Mitochondrial Diseases,MeSH ID:D028361,,,, +BMGC_DS07964,BMG_DS029680,Oxidative Phosphorylation Deficiencies,UMLS ID:C0949856,,,,,,,Mitochondrial Diseases,MeSH ID:D028361,,,, +BMGC_DS07965,BMG_DS029681,Mitochondrial Respiratory Chain Deficiencies,UMLS ID:C0949857,,,,,,,Mitochondrial Diseases,MeSH ID:D028361,,,, +BMGC_DS07966,BMG_DS029684,Denys-Drash Syndrome,UMLS ID:C0950121,,,,,Denys-Drash syndrome,MONDO:0008682,Denys-Drash Syndrome,MeSH ID:D030321,Denys-Drash syndrome,DOID:3764,,OMIM ID:194080 +BMGC_DS07967,BMG_DS029685,Frasier Syndrome,UMLS ID:C0950122,,,,,Frasier syndrome,MONDO:0007635,Frasier Syndrome,MeSH ID:D052159,Frasier syndrome,DOID:0050438,,OMIM ID:136680 +BMGC_DS07968,BMG_DS029686,"Genetic Diseases, Inborn",UMLS ID:C0950123,,,,,,,"Genetic Diseases, Inborn",MeSH ID:D030342,,,, +BMGC_DS07969,BMG_DS029687,Disease due to Papilloma virus,UMLS ID:C0950124,Disease caused by Papilloma virus | Disease caused by Papillomavirus (disorder) | Disease caused by Papillomavirus,SNOMEDCT ID:30415006,,,,,,,,,, +BMGC_DS07970,BMG_DS029688,Autosomal Chromosome Disorders,UMLS ID:C0969687,,,,,,,Chromosome Disorders,MeSH ID:D025063,,,, +BMGC_DS07971,BMG_DS029690,Dysphasia,UMLS ID:C0973461,Dysphasia | Dysphasia (disorder) | Dysphasia | Dysphasia (finding),SNOMEDCT ID:229653009 | SNOMEDCT ID:20301004,,,,,Aphasia,MeSH ID:D001037,aphasia,DOID:0060046,ICD10 ID:R47.02,OMIM ID:MTHU036833 +BMGC_DS07972,BMG_DS029692,Type 1 Duane Retraction Syndrome,UMLS ID:C0994516,,,,,Duane syndrome type 1,MONDO:0024265,Duane Retraction Syndrome,MeSH ID:D004370,,,,OMIM ID:126800 +BMGC_DS07973,BMG_DS029694,Drug Resistant Epilepsy,UMLS ID:C1096063,,,,,,,Drug Resistant Epilepsy,MeSH ID:D000069279,,,, +BMGC_DS07974,BMG_DS029701,Kinsbourne Syndrome,UMLS ID:C1096154,,,,,,,Opsoclonus-Myoclonus Syndrome,MeSH ID:D053578,,,, +BMGC_DS07975,BMG_DS029702,Macrophage Activation Syndrome,UMLS ID:C1096155,,,,,macrophage activation syndrome,MONDO:0015545,Macrophage Activation Syndrome,MeSH ID:D055501,,,, +BMGC_DS07976,BMG_DS029712,,UMLS ID:C1096346,,,,,pancreas sarcoma,MONDO:0002117,,,pancreas sarcoma,DOID:1796,, +BMGC_DS07977,BMG_DS029713,,UMLS ID:C1096349,,,,,neurofibroma of the heart,MONDO:0004752,,,neurofibroma of the heart,DOID:9300,, +BMGC_DS07978,BMG_DS029720,Peptostreptococcus infection,UMLS ID:C1096562,Peptostreptococcus infection | Peptostreptococcus infection (disorder),SNOMEDCT ID:135341000119101,,,Peptostreptococcus infectious disease,MONDO:0024412,,,,,, +BMGC_DS07979,BMG_DS029725,,UMLS ID:C1096638,,,,,ovarian cystadenocarcinoma,MONDO:0002702,,,ovarian cystadenocarcinoma,DOID:3605,, +BMGC_DS07980,BMG_DS029726,,UMLS ID:C1096639,,,,,appendix mucinous cystadenocarcinoma,MONDO:0002703,,,appendix mucinous cystadenocarcinoma,DOID:3607,, +BMGC_DS07981,BMG_DS029731,Infantile Sialic Acid Storage Disease,UMLS ID:C1096902,,,,,"free sialic acid storage disease, infantile form",MONDO:0010027,Sialic Acid Storage Disease,MeSH ID:D029461,,,,OMIM ID:269920 +BMGC_DS07982,BMG_DS029732,Salla disease,UMLS ID:C1096903,"Salla disease | Sialuria, Finnish type | Salla disease (disorder) | Adult sialic acid storage disease",SNOMEDCT ID:87074006,,,Salla disease,MONDO:0011449,,,,,,OMIM ID:604369 +BMGC_DS07983,BMG_DS029733,,UMLS ID:C1112166,,,,,nipple neoplasm,MONDO:0002482,,,nipple benign neoplasm,DOID:3003,, +BMGC_DS07984,BMG_DS029736,Sensorimotor neuropathy,UMLS ID:C1112256,,,,,,,,,,,,OMIM ID:MTHU035590 +BMGC_DS07985,BMG_DS029739,,UMLS ID:C1112382,,,,,epiglottis cancer,MONDO:0004473,,,epiglottis cancer,DOID:8133,, +BMGC_DS07986,BMG_DS029741,,UMLS ID:C1112437,,,,,peripheral primitive neuroectodermal tumor of soft tissues,MONDO:0002982,,,soft tissue peripheral neuroepithelioma,DOID:4389,, +BMGC_DS07987,BMG_DS029744,,UMLS ID:C1112474,,,,,esophageal small cell neuroendocrine carcinoma,MONDO:0004116,,,esophagus small cell carcinoma,DOID:7134,, +BMGC_DS07988,BMG_DS029745,,UMLS ID:C1112486,,,,,aggressive systemic mastocytosis,MONDO:0020333,,,aggressive systemic mastocytosis,DOID:4798,, +BMGC_DS07989,BMG_DS029747,,UMLS ID:C1112530,,,,,,,,,oral mucosa leukoplakia,DOID:9655,, +BMGC_DS07990,BMG_DS029748,,UMLS ID:C1112570,,,,,paraneoplastic pemphigus,MONDO:0018974,,,paraneoplastic pemphigus,DOID:0080852,, +BMGC_DS07991,BMG_DS029750,Granulomatous gastritis,UMLS ID:C1112577,,,"Gastritis, unspecified",ICD11 ID:DA42.Z,granulomatous gastritis,MONDO:0002846,,,granulomatous gastritis,DOID:4038,ICD10 ID:K29.6, +BMGC_DS07992,BMG_DS029755,,UMLS ID:C1112746,,,,,liver lymphoma,MONDO:0004695,,,liver lymphoma,DOID:901,, +BMGC_DS07993,BMG_DS029756,,UMLS ID:C1112747,,,,,sickle cell-hemoglobin E disease syndrome,MONDO:0016671,,,,,, +BMGC_DS07994,BMG_DS029758,,UMLS ID:C1134515,,,,,childhood spinal cord tumor,MONDO:0002716,,,childhood spinal cord tumor,DOID:3637,, +BMGC_DS07995,BMG_DS029759,,UMLS ID:C1134719,,,,,,,,,invasive ductal carcinoma,DOID:3008,, +BMGC_DS07996,BMG_DS029761,,UMLS ID:C1135189,,,,,aqueous misdirection,MONDO:0001206,,,aqueous misdirection,DOID:11149,, +BMGC_DS07997,BMG_DS029762,"Heart Failure, Systolic",UMLS ID:C1135191,,,,,systolic heart failure,MONDO:0006993,"Heart Failure, Systolic",MeSH ID:D054143,systolic heart failure,DOID:9651,, +BMGC_DS07998,BMG_DS029764,"Heart Failure, Diastolic",UMLS ID:C1135196,,,,,diastolic heart failure,MONDO:0006727,"Heart Failure, Diastolic",MeSH ID:D054144,diastolic heart failure,DOID:9775,, +BMGC_DS07999,BMG_DS029768,Dieulafoy lesion (hemorrhagic) of stomach and duodenum,UMLS ID:C1135229,,,,,,,,,Dieulafoy lesion,DOID:12070,ICD10 ID:K31.82, +BMGC_DS08000,BMG_DS029779,"Meningitis, Meningococcal, Serogroup A",UMLS ID:C1135745,,,,,,,"Meningitis, Meningococcal",MeSH ID:D008585,meningococcal meningitis,DOID:0080176,, +BMGC_DS08001,BMG_DS029780,"Meningitis, Meningococcal, Serogroup B",UMLS ID:C1135746,,,,,,,"Meningitis, Meningococcal",MeSH ID:D008585,meningococcal meningitis,DOID:0080176,, +BMGC_DS08002,BMG_DS029781,"Meningitis, Meningococcal, Serogroup C",UMLS ID:C1135747,,,,,,,"Meningitis, Meningococcal",MeSH ID:D008585,meningococcal meningitis,DOID:0080176,, +BMGC_DS08003,BMG_DS029782,"Acquired Metabolic Diseases, Nervous System",UMLS ID:C1135773,,,,,,,"Brain Diseases, Metabolic",MeSH ID:D001928,,,, +BMGC_DS08004,BMG_DS029785,,UMLS ID:C1135868,,,,,gestational trophoblastic neoplasm,MONDO:0018944,,,gestational trophoblastic neoplasm,DOID:3590,, +BMGC_DS08005,BMG_DS029787,,UMLS ID:C1135873,,,,,non-gestational choriocarcinoma,MONDO:0006871,,,non-gestational choriocarcinoma,DOID:4320,, +BMGC_DS08006,BMG_DS029788,"Wasting Disease, Chronic",UMLS ID:C1135993,,,,,chronic wasting disease,MONDO:0002680,"Wasting Disease, Chronic",MeSH ID:D034081,chronic wasting disease,DOID:3530,, +BMGC_DS08007,BMG_DS029789,,UMLS ID:C1136033,,,,,cutaneous mastocytosis,MONDO:0019023,,,cutaneous mastocytosis,DOID:3663,,OMIM ID:154800 +BMGC_DS08008,BMG_DS029790,Plasma cell dyscrasia,UMLS ID:C1136084,Plasma cell dyscrasia | Plasma cell dyscrasia (disorder),SNOMEDCT ID:71390001,,,,,,,plasma cell neoplasm,DOID:6536,,OMIM ID:MTHU071575 +BMGC_DS08009,BMG_DS029792,Water Stress,UMLS ID:C1136135,,,,,,,Dehydration,MeSH ID:D003681,,,, +BMGC_DS08010,BMG_DS029795,"Meningitis, Meningococcal, Serogroup Y",UMLS ID:C1136209,,,,,,,"Meningitis, Meningococcal",MeSH ID:D008585,meningococcal meningitis,DOID:0080176,, +BMGC_DS08011,BMG_DS029796,"Meningitis, Meningococcal, Serogroup W-135",UMLS ID:C1136210,,,,,,,"Meningitis, Meningococcal",MeSH ID:D008585,meningococcal meningitis,DOID:0080176,, +BMGC_DS08012,BMG_DS029797,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED",UMLS ID:C1136249,,,,,X-linked intellectual disability,MONDO:0100284,,,,,,OMIM ID:300427 | OMIM ID:300495 +BMGC_DS08013,BMG_DS029798,HIV-Associated Lipodystrophy Syndrome,UMLS ID:C1136321,,,,,,,HIV-Associated Lipodystrophy Syndrome,MeSH ID:D039682,,,, +BMGC_DS08014,BMG_DS029800,Sclerocystic Ovaries,UMLS ID:C1136382,,,,,,,Polycystic Ovary Syndrome,MeSH ID:D011085,,,, +BMGC_DS08015,BMG_DS029801,"Retinoschisis, Degenerative",UMLS ID:C1137478,,,,,,,Retinoschisis,MeSH ID:D041441,,,, +BMGC_DS08016,BMG_DS029803,"Genetic Diseases, X-Linked",UMLS ID:C1138434,,,,,X-linked disease,MONDO:0000425,"Genetic Diseases, X-Linked",MeSH ID:D040181,,,, +BMGC_DS08017,BMG_DS029804,,UMLS ID:C1140680,,,,,ovarian cancer,MONDO:0008170,,,ovarian cancer,DOID:2394,,OMIM ID:167000 +BMGC_DS08018,BMG_DS029805,Familial long QT syndrome,UMLS ID:C1141890,Congenital long QT syndrome | Inherited long QT syndrome | Familial long QT syndrome | Familial long QT syndrome (disorder),SNOMEDCT ID:442917000,,,familial long QT syndrome,MONDO:0019171,,,,,, +BMGC_DS08019,BMG_DS029806,Purple glove syndrome,UMLS ID:C1141936,Purple glove syndrome | Purple glove syndrome (disorder),SNOMEDCT ID:129576003,,,,,,,,,, +BMGC_DS08020,BMG_DS029811,Carnitine deficiency,UMLS ID:C1142132,Carnitine deficiency (disorder) | Carnitine deficiency,SNOMEDCT ID:421784001,,,,,,,,,, +BMGC_DS08021,BMG_DS029813,,UMLS ID:C1142166,,,,,Brugada syndrome,MONDO:0015263,,,Brugada syndrome,DOID:0050451,, +BMGC_DS08022,BMG_DS029823,Bacteremia caused by Staphylococcus aureus,UMLS ID:C1142423,Staphylococcus aureus bacteraemia | Staphylococcus aureus bacteremia | Bacteremia caused by Staphylococcus aureus | Bacteremia caused by Staphylococcus aureus (finding) | Bacteraemia caused by Staphylococcus aureus,SNOMEDCT ID:428763004,,,,,,,,,, +BMGC_DS08023,BMG_DS029830,,UMLS ID:C1145628,,,,,autonomic nervous system disorder,MONDO:0001292,,,,,, +BMGC_DS08024,BMG_DS029831,Respiratory Failure,UMLS ID:C1145670,,,,,respiratory failure,MONDO:0021113,Respiratory Insufficiency,MeSH ID:D012131,,,, +BMGC_DS08025,BMG_DS029832,Stomach Diverticulosis,UMLS ID:C1148546,,,,,stomach diverticulosis,MONDO:0002976,"Diverticulosis, Stomach",MeSH ID:D045724,stomach diverticulosis,DOID:4370,, +BMGC_DS08026,BMG_DS029833,X-Linked Dyskeratosis Congenita,UMLS ID:C1148551,,,,,"dyskeratosis congenita, X-linked",MONDO:0010584,Dyskeratosis Congenita,MeSH ID:D019871,,,,OMIM ID:305000 +BMGC_DS08027,BMG_DS029834,,UMLS ID:C1153706,,,,,endometrium adenocarcinoma,MONDO:0005461,,,endometrial adenocarcinoma,DOID:2870,, +BMGC_DS08028,BMG_DS029835,,UMLS ID:C1167650,,,,,chronic polyneuropathy,MONDO:0003335,,,chronic polyneuropathy,DOID:5221,, +BMGC_DS08029,BMG_DS029838,Pleuropericarditis,UMLS ID:C1167732,,,,,,,Pericarditis,MeSH ID:D010493,,,, +BMGC_DS08030,BMG_DS029840,Cogan-Reese syndrome,UMLS ID:C1168173,Nodular unilateral glaucoma | Cogan-Reese syndrome | Nodular unilateral glaucoma (disorder) | Cogan-Reese syndrome (disorder) | Cogan-Reese syndrome | Iris naevus syndrome | Iris nevus syndrome | Nodular unilateral glaucoma,SNOMEDCT ID:129624009 | SNOMEDCT ID:404633004,,,Cogan-Reese syndrome,MONDO:0020370,,,Cogan-Reese syndrome,DOID:0060217,, +BMGC_DS08031,BMG_DS029842,,UMLS ID:C1168198,,,,,recurrent respiratory papillomatosis,MONDO:0018955,,,,,, +BMGC_DS08032,BMG_DS029843,,UMLS ID:C1168225,,,,,infectious otitis interna,MONDO:0002812,,,otitis interna,DOID:3930,, +BMGC_DS08033,BMG_DS029847,,UMLS ID:C1168401,,,,,head and neck squamous cell carcinoma,MONDO:0010150,,,head and neck squamous cell carcinoma,DOID:5520,,OMIM ID:275355 +BMGC_DS08034,BMG_DS029850,Severe Acute Respiratory Syndrome,UMLS ID:C1175175,,,,,severe acute respiratory syndrome,MONDO:0005091,Severe Acute Respiratory Syndrome,MeSH ID:D045169,severe acute respiratory syndrome,DOID:2945,, +BMGC_DS08035,BMG_DS029851,,UMLS ID:C1176475,,,,,,,,,breast ductal carcinoma,DOID:3007,, +BMGC_DS08036,BMG_DS029853,Child Malnutrition,UMLS ID:C1257753,,,,,,,Child Nutrition Disorders,MeSH ID:D015362,,,, +BMGC_DS08037,BMG_DS029854,Overnutrition,UMLS ID:C1257763,Disorder of hyperalimentation | Overfed | Overnutrition | Disorder of hyperalimentation (disorder),SNOMEDCT ID:302872003,,,overnutrition,MONDO:0003916,Overnutrition,MeSH ID:D044343,overnutrition,DOID:654,, +BMGC_DS08038,BMG_DS029855,Child Overnutrition,UMLS ID:C1257764,,,,,,,Child Nutrition Disorders,MeSH ID:D015362,,,, +BMGC_DS08039,BMG_DS029856,Infant Overnutrition,UMLS ID:C1257765,,,,,,,Infant Nutrition Disorders,MeSH ID:D007228,,,, +BMGC_DS08040,BMG_DS029857,"Steroid Metabolism, Inborn Errors",UMLS ID:C1257809,,,,,steroid inherited metabolic disorder,MONDO:0005523,"Steroid Metabolism, Inborn Errors",MeSH ID:D043202,steroid inherited metabolic disorder,DOID:1701,, +BMGC_DS08041,BMG_DS029858,,UMLS ID:C1257843,,,,,,,,,Clostridium difficile colitis,DOID:0060185,, +BMGC_DS08042,BMG_DS029859,Clostridium Enterocolitis,UMLS ID:C1257844,,,,,,,"Enterocolitis, Pseudomembranous",MeSH ID:D004761,Clostridium difficile colitis,DOID:0060185,, +BMGC_DS08043,BMG_DS029860,"Enteritis, Pseudomembranous",UMLS ID:C1257845,,,,,,,"Enterocolitis, Pseudomembranous",MeSH ID:D004761,Clostridium difficile colitis,DOID:0060185,, +BMGC_DS08044,BMG_DS029867,,UMLS ID:C1257877,,,,,extra-adrenal sympathetic paraganglioma,MONDO:0000550,,,,,, +BMGC_DS08045,BMG_DS029869,Intestinal Polyposis,UMLS ID:C1257915,,,,,gastrointestinal polyp,MONDO:0024292,Intestinal Polyposis,MeSH ID:D044483,,,, +BMGC_DS08046,BMG_DS029870,Glucose Metabolism Disorders,UMLS ID:C1257958,,,,,glucose metabolism disease,MONDO:0002908,Glucose Metabolism Disorders,MeSH ID:D044882,glucose metabolism disease,DOID:4194,, +BMGC_DS08047,BMG_DS029872,Endogenous Hyperinsulinism,UMLS ID:C1257963,,,,,,,Hyperinsulinism,MeSH ID:D006946,,,, +BMGC_DS08048,BMG_DS029873,Exogenous Hyperinsulinism,UMLS ID:C1257964,,,,,,,Hyperinsulinism,MeSH ID:D006946,,,, +BMGC_DS08049,BMG_DS029874,Compensatory Hyperinsulinemia,UMLS ID:C1257965,,,,,,,Hyperinsulinism,MeSH ID:D006946,,,, +BMGC_DS08050,BMG_DS029878,Barrett Epithelium,UMLS ID:C1258085,,,,,,,Barrett Esophagus,MeSH ID:D001471,,,, +BMGC_DS08051,BMG_DS029880,Diffuse Scleroderma,UMLS ID:C1258104,,,,,diffuse scleroderma,MONDO:0005019,"Scleroderma, Diffuse",MeSH ID:D045743,diffuse scleroderma,DOID:1580,, +BMGC_DS08052,BMG_DS029881,Ileus,UMLS ID:C1258215,Ileus | Ileus (disorder) | Intestinal obstruction | Bowel obstruction | Obstruction of intestine | IO - Intestinal obstruction | Intestinal obstruction (disorder),SNOMEDCT ID:278524008 | SNOMEDCT ID:81060008,,,ileus,MONDO:0004567,Ileus,MeSH ID:D045823,ileus,DOID:8440,,OMIM ID:MTHU007815 +BMGC_DS08053,BMG_DS029889,Moraxellaceae Infections,UMLS ID:C1258225,,,,,Moraxellaceae infectious disease,MONDO:0006878,Moraxellaceae Infections,MeSH ID:D045828,,,, +BMGC_DS08054,BMG_DS029890,Psychobacter Infections,UMLS ID:C1258226,,,,,Moraxellaceae infectious disease,MONDO:0006878,Moraxellaceae Infections,MeSH ID:D045828,,,, +BMGC_DS08055,BMG_DS029891,,UMLS ID:C1260325,,,,,follicular dendritic cell sarcoma,MONDO:0005764,,,follicular dendritic cell sarcoma,DOID:6262,, +BMGC_DS08056,BMG_DS029892,,UMLS ID:C1260326,,,,,interdigitating dendritic cell sarcoma,MONDO:0005813,,,interdigitating dendritic cell sarcoma,DOID:7848,, +BMGC_DS08057,BMG_DS029893,,UMLS ID:C1260327,,,,,Langerhans cell sarcoma,MONDO:0019480,,,Langerhans cell sarcoma,DOID:7146,, +BMGC_DS08058,BMG_DS029898,,UMLS ID:C1260402,,,,,splenic sequestration,MONDO:0001366,,,splenic sequestration,DOID:11786,, +BMGC_DS08059,BMG_DS029899,,UMLS ID:C1260409,,,,,,,,,myasthenia gravis,DOID:437,, +BMGC_DS08060,BMG_DS029905,Aortic valve disorder,UMLS ID:C1260873,Aortic valve disorder | Aortic valve disorder (disorder) | Aortic valve disease | AVD - Aortic valve disease,SNOMEDCT ID:8722008,,,aortic valve disorder,MONDO:0003803,,,aortic valve disease,DOID:62,, +BMGC_DS08061,BMG_DS029920,"Anemia, Diamond-Blackfan",UMLS ID:C1260899,,,,,Diamond-Blackfan anemia,MONDO:0015253,"Anemia, Diamond-Blackfan",MeSH ID:D029503,Diamond-Blackfan anemia,DOID:1339,, +BMGC_DS08062,BMG_DS029923,Dysfibrinogenemia,UMLS ID:C1260903,Dysfibrinogenemia | Dysfibrinogenaemia | Dysfibrinogenemia (disorder),SNOMEDCT ID:111589005,,,,,,,,,, +BMGC_DS08063,BMG_DS029925,Infection by Pasteurella multocida,UMLS ID:C1260911,Infection by Pasteurella multocida | Infection caused by Pasteurella multocida | Infection caused by Pasteurella multocida (disorder) | Hemorrhagic septicemia due to Pasteurella multocida | Haemorrhagic septicaemia due to Pasteurella multocida | Hemorrhagic septicemia due to Pasteurella multocida (disorder),SNOMEDCT ID:197718007 | SNOMEDCT ID:9772004,,,Pasteurella multocida infectious disease,MONDO:0040998,,,,,, +BMGC_DS08064,BMG_DS029928,Late latent syphilis,UMLS ID:C1260915,Late latent syphilis | Late latent syphilis (disorder),SNOMEDCT ID:186903006,,,late latent syphilis,MONDO:0040923,,,,,, +BMGC_DS08065,BMG_DS029929,Proteus pneumonia,UMLS ID:C1260917,Proteus pneumonia | Proteus pneumonia (disorder),SNOMEDCT ID:195888009,,,,,,,,,, +BMGC_DS08066,BMG_DS029934,,UMLS ID:C1260964,,,,,ductal eccrine adenocarcinoma,MONDO:0024245,,,malignant acrospiroma,DOID:5570,, +BMGC_DS08067,BMG_DS029935,,UMLS ID:C1260965,,,,,lipoblastoma,MONDO:0016611,,,,,, +BMGC_DS08068,BMG_DS029941,Progeria short stature pigmented nevi,UMLS ID:C1261128,,,,,progeria-short stature-pigmented nevi syndrome,MONDO:0008311,,MeSH ID:C536422,,,,OMIM ID:176690 +BMGC_DS08069,BMG_DS029945,Pontoneocerebellar hypoplasia,UMLS ID:C1261175,Pontoneocerebellar hypoplasia (disorder) | Pontoneocerebellar hypoplasia,SNOMEDCT ID:373666002,,,pontocerebellar hypoplasia,MONDO:0020135,,,,,, +BMGC_DS08070,BMG_DS029949,Pelvic inflammatory disease caused by Metamycoplasma hominis,UMLS ID:C1261256,Pelvic inflammatory disease caused by Mycoplasma hominis | Pelvic inflammatory disease caused by Metamycoplasma hominis | Pelvic inflammatory disease caused by Metamycoplasma hominis (disorder),SNOMEDCT ID:270550006,,,,,,,,,, +BMGC_DS08071,BMG_DS029952,Trigonitis,UMLS ID:C1261278,(Cystitis NOS) or (trigonitis) | Trigonitis | Cystitis NOS | (Cystitis NOS) or (trigonitis) (disorder) | Trigonitis | Trigonitis (disorder) | (Trigonitis) or (follicular cystitis) | Follicular cystitis | Trigonitis | (Trigonitis) or (follicular cystitis) (disorder) | (Cystitis NOS) or (trigonitis) | Cystitis NOS | Trigonitis | (Cystitis NOS) or (trigonitis) (disorder),SNOMEDCT ID:155885003 | SNOMEDCT ID:266562000 | SNOMEDCT ID:197843007 | SNOMEDCT ID:266629000 | SNOMEDCT ID:74445007,Trigonitis,ICD11 ID:GC00.0,trigonitis,MONDO:0001732,,,trigonitis,DOID:13507,ICD10 ID:N30.3, +BMGC_DS08072,BMG_DS029954,Actinomycetoma,UMLS ID:C1261283,Actinomycotic madura foot | Actinomycotic maduromycosis | Actinomycotic mycetoma | Actinomycotic schizomycetoma | Actinomycetoma | Actinomycotic madura foot (disorder) | Actinomycetoma | Actinomycotic mycetoma | Actinomycotic mycetoma (disorder) | Actinomycotic mycetema,SNOMEDCT ID:82684004 | SNOMEDCT ID:187089001,Actinomycetoma,ICD11 ID:1C43,,,Mycetoma,MeSH ID:D008271,,,ICD10 ID:B47.1, +BMGC_DS08073,BMG_DS029956,"Degeneration of macula due to cyst, hole or pseudohole",UMLS ID:C1261331,"Degeneration of macula due to cyst, hole or pseudohole | Macular cyst or hole | Degeneration of macular due to cyst, hole or pseudohole | Macular hole | Degeneration of macular due to cyst &/or hole &/or pseudohole | Degeneration of macular due to cyst &/or hole &/or pseudohole (disorder) | Degeneration of macula due to cyst, hole or pseudohole | Degeneration of macula due to cyst, hole or pseudohole (disorder)",SNOMEDCT ID:193388002 | SNOMEDCT ID:267612009,,,hole retinal cyst,MONDO:0001663,,,hole retinal cyst,DOID:13214,, +BMGC_DS08074,BMG_DS029964,,UMLS ID:C1261473,,,,,sarcoma,MONDO:0005089,,,,,, +BMGC_DS08075,BMG_DS029967,Bacterial sinusitis,UMLS ID:C1262006,Bacterial sinusitis | Bacterial sinusitis (disorder),SNOMEDCT ID:703470001,,,,,,,,,, +BMGC_DS08076,BMG_DS029970,Fungal keratitis,UMLS ID:C1262117,Fungal keratitis | Fungal keratitis (disorder) | Mycotic keratitis | Fungal infection of cornea | Keratomycosis,SNOMEDCT ID:314558005,,,fungal keratitis,MONDO:0033821,,,,,, +BMGC_DS08077,BMG_DS029977,Eosinophilic gastroenteritis,UMLS ID:C1262481,Infection by Anisakis larva | Infection by Anisakis larva (disorder) | Eosinophilic gastroenteritis | Eosinophilic gastroenteritis (disorder),SNOMEDCT ID:32183007 | SNOMEDCT ID:359804008,,,eosinophilic gastroenteritis,MONDO:0016129,,MeSH ID:C535952,eosinophilic gastroenteritis,DOID:4031,, +BMGC_DS08078,BMG_DS029982,"Hepatitis, Drug-Induced",UMLS ID:C1262760,,,,,drug-induced hepatitis,MONDO:0002184,Chemical and Drug Induced Liver Injury,MeSH ID:D056486,,,, +BMGC_DS08079,BMG_DS030019,Subacute glomerulonephritis,UMLS ID:C1263744,Subacute glomerulonephritis | Subacute glomerulonephritis (disorder),SNOMEDCT ID:123609007,,,subacute glomerulonephritis,MONDO:0003138,,,subacute glomerulonephritis,DOID:4782,, +BMGC_DS08080,BMG_DS030030,Female genital tract infection,UMLS ID:C1263758,Female genital tract infection | Female genital tract infection (disorder),SNOMEDCT ID:125585007,,,,,,,,,, +BMGC_DS08081,BMG_DS030051,,UMLS ID:C1263846,,,,,attention deficit-hyperactivity disorder,MONDO:0007743,,,,,, +BMGC_DS08082,BMG_DS030060,Peripheral axonal neuropathy,UMLS ID:C1263857,Peripheral axonal neuropathy | Peripheral axonal neuropathy (disorder),SNOMEDCT ID:128208007,,,axonal neuropathy,MONDO:0004183,,,,,,OMIM ID:MTHU001038 +BMGC_DS08083,BMG_DS030061,"Muscular dystrophy congenital, merosin negative",UMLS ID:C1263858,,,,,congenital merosin-deficient muscular dystrophy 1A,MONDO:0011925,,MeSH ID:C537384,congenital merosin-deficient muscular dystrophy 1A,DOID:0110636,,OMIM ID:607855 +BMGC_DS08084,BMG_DS030079,,UMLS ID:C1263885,,,,,neoplasm of cerebral hemisphere,MONDO:0021374,,,cerebrum cancer,DOID:368,, +BMGC_DS08085,BMG_DS030080,,UMLS ID:C1263886,,,,,frontal lobe neoplasm,MONDO:0001421,,,frontal lobe neoplasm,DOID:12016,, +BMGC_DS08086,BMG_DS030081,,UMLS ID:C1263887,,,,,neoplasm of temporal lobe,MONDO:0021372,,,temporal lobe neoplasm,DOID:2135,, +BMGC_DS08087,BMG_DS030082,,UMLS ID:C1263888,,,,,neoplasm of parietal lobe,MONDO:0021373,,,parietal lobe neoplasm,DOID:14384,, +BMGC_DS08088,BMG_DS030083,,UMLS ID:C1263889,,,,,occipital lobe neoplasm,MONDO:0004709,,,occipital lobe neoplasm,DOID:910,, +BMGC_DS08089,BMG_DS030084,,UMLS ID:C1263892,,,,,cauda equina neoplasm,MONDO:0003164,,,cauda equina neoplasm,DOID:4847,, +BMGC_DS08090,BMG_DS030085,,UMLS ID:C1263895,,,,,oculomotor nerve neoplasm,MONDO:0002435,,,cranial nerve III tumor,DOID:2817,, +BMGC_DS08091,BMG_DS030086,,UMLS ID:C1263896,,,,,trochlear nerve neoplasm,MONDO:0002642,,,trochlear nerve neoplasm,DOID:3421,, +BMGC_DS08092,BMG_DS030087,,UMLS ID:C1263897,,,,,trigeminal nerve neoplasm,MONDO:0001420,,,trigeminal nerve neoplasm,DOID:1201,, +BMGC_DS08093,BMG_DS030088,,UMLS ID:C1263898,,,,,abducens nerve neoplasm,MONDO:0001884,,,abducens nerve neoplasm,DOID:14125,, +BMGC_DS08094,BMG_DS030089,,UMLS ID:C1263899,,,,,facial nerve neoplasm,MONDO:0002101,,,facial nerve neoplasm,DOID:1760,, +BMGC_DS08095,BMG_DS030090,,UMLS ID:C1263900,,,,,glossopharyngeal nerve neoplasm,MONDO:0002638,,,glossopharyngeal nerve neoplasm,DOID:3417,, +BMGC_DS08096,BMG_DS030091,,UMLS ID:C1263901,,,,,vagus nerve neoplasm,MONDO:0001608,,,vagus nerve neoplasm,DOID:12984,, +BMGC_DS08097,BMG_DS030092,,UMLS ID:C1263902,,,,,spinal accessory nerve neoplasm,MONDO:0002626,,,spinal accessory nerve neoplasm,DOID:337,, +BMGC_DS08098,BMG_DS030093,,UMLS ID:C1263903,,,,,hypoglossal nerve neoplasm,MONDO:0002550,,,hypoglossal nerve neoplasm,DOID:3198,, +BMGC_DS08099,BMG_DS030125,Sickle cell-Hemoglobin O Arab disease,UMLS ID:C1264000,Sickle cell-Hemoglobin O Arab disease | Sickle cell-Haemoglobin O Arab disease | Sickle cell-Hemoglobin O Arab disease (disorder),SNOMEDCT ID:127048005,,,,,,,,,, +BMGC_DS08100,BMG_DS030155,"von Willebrand Disease, Type 1",UMLS ID:C1264039,,,,,von Willebrand disease 1,MONDO:0008668,"von Willebrand Disease, Type 1",MeSH ID:D056725,von Willebrand's disease 1,DOID:0060573,,OMIM ID:193400 +BMGC_DS08101,BMG_DS030156,"von Willebrand Disease, Type 2",UMLS ID:C1264040,,,,,von Willebrand disease 2,MONDO:0013304,"von Willebrand Disease, Type 2",MeSH ID:D056728,von Willebrand's disease 2,DOID:0060574,,OMIM ID:613554 +BMGC_DS08102,BMG_DS030157,"von Willebrand Disease, Type 3",UMLS ID:C1264041,,,,,von Willebrand disease 3,MONDO:0010191,"von Willebrand Disease, Type 3",MeSH ID:D056729,von Willebrand's disease 3,DOID:0111054,,OMIM ID:277480 +BMGC_DS08103,BMG_DS030204,,UMLS ID:C1265996,,,,,large cell neuroendocrine carcinoma,MONDO:0005057,,,pulmonary large cell neuroendocrine carcinoma,DOID:6658,, +BMGC_DS08104,BMG_DS030205,,UMLS ID:C1265997,,,,,large cell carcinoma with rhabdoid phenotype,MONDO:0004237,,,large cell carcinoma with rhabdoid phenotype,DOID:7480,, +BMGC_DS08105,BMG_DS030206,,UMLS ID:C1266005,,,,,basaloid squamous cell carcinoma,MONDO:0003486,,,basaloid squamous cell carcinoma,DOID:5522,, +BMGC_DS08106,BMG_DS030207,,UMLS ID:C1266010,,,,,,,,,non-invasive bladder papillary urothelial neoplasm,DOID:6239,, +BMGC_DS08107,BMG_DS030208,,UMLS ID:C1266018,,,,,sclerosing hepatic carcinoma,MONDO:0003246,,,sclerosing hepatic carcinoma,DOID:5026,, +BMGC_DS08108,BMG_DS030209,,UMLS ID:C1266020,,,,,hepatocellular clear cell carcinoma,MONDO:0003243,,,hepatocellular clear cell carcinoma,DOID:5016,, +BMGC_DS08109,BMG_DS030210,,UMLS ID:C1266023,,,,,pregnancy adenoma,MONDO:0004271,,,pregnancy adenoma,DOID:7539,, +BMGC_DS08110,BMG_DS030211,,UMLS ID:C1266027,,,,,anal gland adenocarcinoma,MONDO:0004266,,,anal gland adenocarcinoma,DOID:7531,, +BMGC_DS08111,BMG_DS030215,,UMLS ID:C1266038,,,,,,,,,biliary papillomatosis,DOID:5468,, +BMGC_DS08112,BMG_DS030216,,UMLS ID:C1266042,,,,,chromophobe renal cell carcinoma,MONDO:0017885,,,chromophobe renal cell carcinoma,DOID:4471,, +BMGC_DS08113,BMG_DS030217,,UMLS ID:C1266043,,,,,sarcomatoid renal cell carcinoma,MONDO:0003012,,,sarcomatoid renal cell carcinoma,DOID:4473,, +BMGC_DS08114,BMG_DS030218,,UMLS ID:C1266044,,,,,collecting duct carcinoma,MONDO:0005220,,,collecting duct carcinoma,DOID:4464,, +BMGC_DS08115,BMG_DS030219,,UMLS ID:C1266045,,,,,metanephric adenoma,MONDO:0006301,,,metanephric adenoma,DOID:6404,, +BMGC_DS08116,BMG_DS030220,,UMLS ID:C1266046,,,,,thyroid gland atypical follicular adenoma,MONDO:0004524,,,atypical follicular adenoma,DOID:8292,, +BMGC_DS08117,BMG_DS030222,,UMLS ID:C1266057,,,,,secretory uterine corpus endometrioid adenocarcinoma,MONDO:0004174,,,"endometrial endometrioid adenocarcinoma, secretory variant",DOID:7289,, +BMGC_DS08118,BMG_DS030224,,UMLS ID:C1266063,,,,,malignant spiradenoma,MONDO:0004412,,,malignant spiradenoma,DOID:7960,, +BMGC_DS08119,BMG_DS030225,,UMLS ID:C1266065,,,,,eccrine porocarcinoma,MONDO:0006189,,,eccrine porocarcinoma,DOID:7566,, +BMGC_DS08120,BMG_DS030226,,UMLS ID:C1266066,,,,,,,,,eccrine adenocarcinoma,DOID:4920,, +BMGC_DS08121,BMG_DS030227,,UMLS ID:C1266071,,,,,,,,,pancreatic intraductal papillary-mucinous neoplasm,DOID:7575,, +BMGC_DS08122,BMG_DS030228,,UMLS ID:C1266078,,,,,pancreatic non-invasive mucinous cystadenocarcinoma,MONDO:0004159,,,pancreatic non-invasive mucinous cystadenocarcinoma,DOID:7237,, +BMGC_DS08123,BMG_DS030229,,UMLS ID:C1266079,,,,,,,,,endocervical type cervical mucinous adenocarcinoma,DOID:8340,, +BMGC_DS08124,BMG_DS030230,,UMLS ID:C1266087,,,,,pancreatic acinar cell cystadenocarcinoma,MONDO:0004343,,,acinar cell cystadenocarcinoma,DOID:7729,, +BMGC_DS08125,BMG_DS030232,,UMLS ID:C1266091,,,,,thymoma type A,MONDO:0002588,,,spindle cell thymoma,DOID:3279,, +BMGC_DS08126,BMG_DS030233,,UMLS ID:C1266092,,,,,thymoma type AB,MONDO:0016975,,,mixed type thymoma,DOID:3280,, +BMGC_DS08127,BMG_DS030234,,UMLS ID:C1266093,,,,,malignant type AB thymoma,MONDO:0003976,,,malignant type AB thymoma,DOID:6723,, +BMGC_DS08128,BMG_DS030235,,UMLS ID:C1266094,,,,,thymoma type B1,MONDO:0006459,,,predominantly cortical thymoma,DOID:6917,, +BMGC_DS08129,BMG_DS030236,,UMLS ID:C1266095,,,,,cortical thymoma,MONDO:0003915,,,thymoma type B2,DOID:6530,, +BMGC_DS08130,BMG_DS030238,,UMLS ID:C1266101,,,,,thymic epithelial neoplasm,MONDO:0018079,,,,,, +BMGC_DS08131,BMG_DS030239,,UMLS ID:C1266111,,,,,malignant glomus tumor,MONDO:0003340,,,glomangiosarcoma,DOID:5233,, +BMGC_DS08132,BMG_DS030240,,UMLS ID:C1266112,,,,,diffuse meningeal melanocytosis,MONDO:0003867,,,diffuse meningeal melanocytosis,DOID:6379,, +BMGC_DS08133,BMG_DS030242,,UMLS ID:C1266114,,,,,meningeal melanomatosis,MONDO:0004512,,,meningeal melanomatosis,DOID:8243,, +BMGC_DS08134,BMG_DS030243,,UMLS ID:C1266119,,,,,solitary fibrous tumor,MONDO:0016238,,,,,, +BMGC_DS08135,BMG_DS030244,,UMLS ID:C1266121,,,,,myofibroma,MONDO:0006312,,,myofibroma,DOID:4386,, +BMGC_DS08136,BMG_DS030246,,UMLS ID:C1266127,,,,,"histiocytoma, Angiomatoid fibrous",MONDO:0012809,,,,,,OMIM ID:612160 +BMGC_DS08137,BMG_DS030247,,UMLS ID:C1266128,,,,,ossifying fibromyxoid tumor,MONDO:0006330,,,ossifying fibromyxoid tumor,DOID:2685,, +BMGC_DS08138,BMG_DS030249,,UMLS ID:C1266130,,,,,fibroblastic liposarcoma,MONDO:0003590,,,fibroblastic liposarcoma,DOID:5698,, +BMGC_DS08139,BMG_DS030250,,UMLS ID:C1266131,,,,,chondroid lipoma,MONDO:0000977,,,chondroid lipoma,DOID:10208,, +BMGC_DS08140,BMG_DS030251,,UMLS ID:C1266134,,,,,spindle cell rhabdomyosarcoma,MONDO:0002581,,,spindle cell rhabdomyosarcoma,DOID:3260,, +BMGC_DS08141,BMG_DS030254,,UMLS ID:C1266141,,,,,nephrogenic adenofibroma,MONDO:0002396,,,nephrogenic adenofibroma,DOID:2698,, +BMGC_DS08142,BMG_DS030255,,UMLS ID:C1266144,,,,,pleuropulmonary blastoma,MONDO:0011014,,,pleuropulmonary blastoma,DOID:4769,,OMIM ID:601200 +BMGC_DS08143,BMG_DS030257,,UMLS ID:C1266159,,,,,epithelioid trophoblastic tumor,MONDO:0016787,,,epithelioid trophoblastic tumor,DOID:3593,, +BMGC_DS08144,BMG_DS030258,,UMLS ID:C1266165,,,,,high grade surface osteosarcoma,MONDO:0006246,,,,,, +BMGC_DS08145,BMG_DS030259,,UMLS ID:C1266166,,,,,,,,,conventional osteosarcoma,DOID:7602,, +BMGC_DS08146,BMG_DS030260,,UMLS ID:C1266167,,,,,clear cell chondrosarcoma,MONDO:0003684,,,clear cell chondrosarcoma,DOID:5867,, +BMGC_DS08147,BMG_DS030261,,UMLS ID:C1266168,,,,,malignant tenosynovial giant cell tumor,MONDO:0002401,,,malignant giant cell tumor of the tendon sheath,DOID:2704,, +BMGC_DS08148,BMG_DS030262,,UMLS ID:C1266173,,,,,chondroid chordoma,MONDO:0006145,,,chondroid chordoma,DOID:4152,, +BMGC_DS08149,BMG_DS030263,,UMLS ID:C1266175,,,,,parachordoma,MONDO:0006351,,,parachordoma,DOID:2647,, +BMGC_DS08150,BMG_DS030265,,UMLS ID:C1266177,,,,,dysembryoplastic neuroepithelial tumor,MONDO:0005505,,,dysembryoplastic neuroepithelial tumor,DOID:2679,, +BMGC_DS08151,BMG_DS030266,,UMLS ID:C1266178,,,,,gliofibroma,MONDO:0003170,,,gliofibroma,DOID:4856,, +BMGC_DS08152,BMG_DS030267,,UMLS ID:C1266180,,,,,large cell medulloblastoma,MONDO:0002791,,,large cell medulloblastoma,DOID:3857,, +BMGC_DS08153,BMG_DS030268,,UMLS ID:C1266184,,,,,atypical teratoid rhabdoid tumor,MONDO:0020560,,,atypical teratoid rhabdoid tumor,DOID:2129,, +BMGC_DS08154,BMG_DS030269,,UMLS ID:C1266188,,,,,malignant perineurioma,MONDO:0016751,,,,,, +BMGC_DS08155,BMG_DS030270,,UMLS ID:C1266194,,,,,"Hodgkin's lymphoma, lymphocytic-histiocytic predominance",MONDO:0004604,,,"Hodgkin's lymphoma, lymphocytic-histiocytic predominance",DOID:8543,, +BMGC_DS08156,BMG_DS030289,Congenital Thrombotic Thrombocytopenic Purpura,UMLS ID:C1268935,,,,,congenital thrombotic thrombocytopenic purpura,MONDO:0010122,"Purpura, Thrombotic Thrombocytopenic",MeSH ID:D011697,,,,OMIM ID:274150 +BMGC_DS08157,BMG_DS030293,,UMLS ID:C1269683,,,,,major depressive disorder,MONDO:0002009,,,,,,OMIM ID:608516 +BMGC_DS08158,BMG_DS030317,,UMLS ID:C1271219,,,,,ectopia pupillae,MONDO:0007515,,,,,,OMIM ID:129750 +BMGC_DS08159,BMG_DS030318,Pigment dispersion syndrome (disorder),UMLS ID:C1271398,Pigment dispersion syndrome (disorder) | Pigment dispersion syndrome,SNOMEDCT ID:392133001,,,pigment dispersion syndrome,MONDO:0010896,,,,,,OMIM ID:600510 +BMGC_DS08160,BMG_DS030347,,UMLS ID:C1273017,,,,,tibial adamantinoma,MONDO:0006469,,,tibial adamantinoma,DOID:6322,, +BMGC_DS08161,BMG_DS030348,Left ventricular diastolic dysfunction,UMLS ID:C1273070,Left ventricular diastolic dysfunction | Left ventricular diastolic dysfunction (disorder) | Left ventricular diastolic dysfunction (disorder) | Left ventricular diastolic dysfunction,SNOMEDCT ID:395650008 | SNOMEDCT ID:395704004,,,,,,,,,,OMIM ID:MTHU076255 +BMGC_DS08162,BMG_DS030354,Infection due to Penicillium marneffei (disorder),UMLS ID:C1274008,Infection caused by Penicillium marneffei | Infection caused by Talaromyces marneffei | Infection caused by Talaromyces marneffei (disorder),SNOMEDCT ID:372936000,,,penicilliosis,MONDO:0000304,,,,,, +BMGC_DS08163,BMG_DS030376,IgA pemphigus,UMLS ID:C1274167,IgA pemphigus | Immunoglobulin A pemphigus (disorder) | Immunoglobulin A pemphigus,SNOMEDCT ID:402717008,,,IgA pemphigus,MONDO:0034127,,,IgA pemphigus,DOID:0080851,, +BMGC_DS08164,BMG_DS030392,Factitious skin disease,UMLS ID:C1274184,Factitious skin disease (disorder) | Factitious skin disease,SNOMEDCT ID:402736003,,,neurotic excoriation,MONDO:0006586,,,neurotic excoriation,DOID:9165,, +BMGC_DS08165,BMG_DS030404,,UMLS ID:C1274215,,,,,autosomal recessive congenital ichthyosis,MONDO:0017265,,,,,, +BMGC_DS08166,BMG_DS030405,,UMLS ID:C1274216,,,,,,,,,punctate palmoplantar keratoderma,DOID:0060361,, +BMGC_DS08167,BMG_DS030413,Chylomicronemia syndrome,UMLS ID:C1274228,Chylomicronemia syndrome (disorder) | Chylomicronemia syndrome,SNOMEDCT ID:402786009,,,,,,,,,, +BMGC_DS08168,BMG_DS030417,T-lymphocyte immunodeficiency,UMLS ID:C1274233,T-lymphocyte immunodeficiency (disorder) | T-lymphocyte immunodeficiency,SNOMEDCT ID:402792003,,,T-cell immunodeficiency,MONDO:0003780,,,T cell deficiency,DOID:11200,, +BMGC_DS08169,BMG_DS030474,Recurrent herpes simplex labialis,UMLS ID:C1274321,Recurrent herpes simplex labialis (disorder) | Recurrent herpes simplex labialis | Recurrent herpes labialis,SNOMEDCT ID:402892009,,,,,,,,,, +BMGC_DS08170,BMG_DS030476,Recurrent genital herpes simplex,UMLS ID:C1274323,Recurrent genital herpes simplex (disorder) | Recurrent genital herpes simplex | Recurrent herpes genitalis,SNOMEDCT ID:402894005,,,,,,,,,, +BMGC_DS08171,BMG_DS030506,Streptococcal infection of skin,UMLS ID:C1274355,Streptococcal infection of skin (disorder) | Streptococcal infection of skin,SNOMEDCT ID:402937004,,,,,,,,,, +BMGC_DS08172,BMG_DS030548,Primary Cutaneous Nocardiosis,UMLS ID:C1274400,,,,,,,Nocardia Infections,MeSH ID:D009617,,,, +BMGC_DS08173,BMG_DS030613,Onychomycosis of toenails,UMLS ID:C1274470,Onychomycosis of toenails (disorder) | Onychomycosis of toenails,SNOMEDCT ID:403059006,,,,,,,,,, +BMGC_DS08174,BMG_DS030691,Demodectic blepharitis,UMLS ID:C1274557,Demodectic blepharitis (disorder) | Demodectic blepharitis,SNOMEDCT ID:403152000,,,,,,,,,, +BMGC_DS08175,BMG_DS030774,Central centrifugal cicatricial alopecia,UMLS ID:C1274708,Central centrifugal cicatricial alopecia (disorder) | Central centrifugal cicatricial alopecia | Hot comb alopecia,SNOMEDCT ID:109441000119102,,,central centrifugal cicatricial alopecia,MONDO:0022113,,,,,ICD10 ID:L66.81,OMIM ID:618352 +BMGC_DS08176,BMG_DS030799,Hyperhidrosis Palmaris Et Plantaris,UMLS ID:C1274743,,,,,hyperhidrosis palmaris ET plantaris,MONDO:0007754,,MeSH ID:C563185,,,,OMIM ID:144110 +BMGC_DS08177,BMG_DS030839,Ligneous conjunctivitis,UMLS ID:C1274789,Ligneous conjunctivitis (disorder) | Ligneous conjunctivitis,SNOMEDCT ID:403435005,,,ligneous conjunctivitis,MONDO:0100560,,,,,ICD10 ID:H10.51,OMIM ID:MTHU023531 +BMGC_DS08178,BMG_DS030845,,UMLS ID:C1274795,,,,,hereditary mucoepithelial dysplasia,MONDO:0008017,,,,,,OMIM ID:158310 +BMGC_DS08179,BMG_DS030870,Systemic lupus erythematosus of childhood,UMLS ID:C1274834,Systemic lupus erythematosus of childhood (disorder) | Systemic lupus erythematosus of childhood,SNOMEDCT ID:403488004,,,pediatric systemic lupus erythematosus,MONDO:0019725,,,,,, +BMGC_DS08180,BMG_DS030923,Drug-Induced Stevens Johnson Syndrome,UMLS ID:C1274933,,,,,,,Stevens-Johnson Syndrome,MeSH ID:D013262,,,, +BMGC_DS08181,BMG_DS030972,Drug-induced mucositis,UMLS ID:C1274988,Drug-induced mucositis (disorder) | Drug-induced mucositis,SNOMEDCT ID:403666006,,,,,,,,,, +BMGC_DS08182,BMG_DS031016,Acrocephalopolysyndactyly type 2,UMLS ID:C1275078,Acrocephalopolysyndactyly type II (disorder) | Acrocephalopolysyndactyly type II | Carpenter syndrome | Acrocephalopolysyndactyly type 2,SNOMEDCT ID:403767009,,,Carpenter syndrome,MONDO:0019012,,,Carpenter syndrome,DOID:0060234,, +BMGC_DS08183,BMG_DS031017,Sakati syndrome,UMLS ID:C1275079,,,,,Sakati-Nyhan syndrome,MONDO:0007040,,MeSH ID:C537227,Sakati-Nyhan syndrome,DOID:0060359,,OMIM ID:101120 +BMGC_DS08184,BMG_DS031018,Cardio-facio-cutaneous syndrome,UMLS ID:C1275081,Cardio-facio-cutaneous syndrome (disorder) | Cardio-facio-cutaneous syndrome,SNOMEDCT ID:403770008,,,cardiofaciocutaneous syndrome,MONDO:0015280,,,,,, +BMGC_DS08185,BMG_DS031020,,UMLS ID:C1275084,,,,,hereditary neurocutaneous angioma,MONDO:0007116,,,,,,OMIM ID:106070 +BMGC_DS08186,BMG_DS031023,Dykes Markes Harper syndrome,UMLS ID:C1275088,,,,,ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,MONDO:0009445,,MeSH ID:C535727,,,,OMIM ID:242520 +BMGC_DS08187,BMG_DS031024,"Ichthyosiform erythroderma, corneal involvement, deafness",UMLS ID:C1275089,,,,,"ichthyosiform erythroderma, corneal involvement, and hearing loss",MONDO:0009440,,MeSH ID:C537363,,,,OMIM ID:242150 +BMGC_DS08188,BMG_DS031038,Autosomal dominant familial wooly hair,UMLS ID:C1275103,Autosomal dominant familial woolly hair | Autosomal dominant familial wooly hair (disorder) | Autosomal dominant familial wooly hair,SNOMEDCT ID:403794008,,,,,,,,,, +BMGC_DS08189,BMG_DS031046,Dystrophic epidermolysis bullosa inverse type,UMLS ID:C1275113,Dystrophic epidermolysis bullosa inverse type (disorder) | Dystrophic epidermolysis bullosa inverse type,SNOMEDCT ID:403809003,,,recessive dystrophic epidermolysis bullosa inversa,MONDO:0019310,,,,,, +BMGC_DS08190,BMG_DS031047,Epidermolysis Bullosa Pruriginosa,UMLS ID:C1275114,,,,,dystrophic epidermolysis bullosa pruriginosa,MONDO:0011398,,MeSH ID:C563192,,,,OMIM ID:604129 +BMGC_DS08191,BMG_DS031049,Autosomal recessive pseudoxanthoma elasticum,UMLS ID:C1275116,Autosomal recessive pseudoxanthoma elasticum (disorder) | Autosomal recessive pseudoxanthoma elasticum,SNOMEDCT ID:403812000,,,autosomal recessive inherited pseudoxanthoma elasticum,MONDO:0009925,,,,,,OMIM ID:264800 +BMGC_DS08192,BMG_DS031051,,UMLS ID:C1275122,,,,,familial multiple trichoepithelioma,MONDO:0011114,,,,,, +BMGC_DS08193,BMG_DS031054,TNF receptor-associated periodic fever syndrome (TRAPS),UMLS ID:C1275126,TNF receptor-associated periodic fever syndrome (TRAPS) | Familial autosomal dominant periodic fever | TNF receptor-associated periodic fever syndrome | TRAPS - TNF receptor-associated periodic fever syndrome | Tumor necrosis factor (TNF) receptor-associated periodic fever syndrome | Tumour necrosis factor (TNF) receptor-associated periodic fever syndrome | Tumor necrosis factor receptor-associated periodic fever syndrome | Tumor necrosis factor receptor-associated periodic fever syndrome (disorder) | Tumour necrosis factor receptor-associated periodic fever syndrome,SNOMEDCT ID:403833009,,,autosomal dominant familial periodic fever,MONDO:0007727,,,,,,OMIM ID:142680 +BMGC_DS08194,BMG_DS031071,,UMLS ID:C1275217,,,,,vulval Paget disease,MONDO:0002207,,,vulval Paget's disease,DOID:2097,, +BMGC_DS08195,BMG_DS031072,,UMLS ID:C1275226,,,,,cutaneous glomangioma,MONDO:0002298,,,skin glomangioma,DOID:2435,, +BMGC_DS08196,BMG_DS031078,,UMLS ID:C1275254,,,,,cutaneous undifferentiated pleomorphic sarcoma,MONDO:0002141,,,malignant skin fibrous histiocytoma,DOID:1906,, +BMGC_DS08197,BMG_DS031080,,UMLS ID:C1275264,,,,,epithelioid neurofibroma,MONDO:0003302,,,epithelioid neurofibroma,DOID:5149,, +BMGC_DS08198,BMG_DS031081,Familial Multiple Lipomatosis,UMLS ID:C1275273,,,,,familial multiple lipomatosis,MONDO:0007909,Familial Multiple Lipomatosis,MeSH ID:D000071070,familial multiple lipomatosis,DOID:0070518,,OMIM ID:151900 +BMGC_DS08199,BMG_DS031082,,UMLS ID:C1275275,,,,,spindle cell liposarcoma,MONDO:0003596,,,spindle cell liposarcoma,DOID:5705,, +BMGC_DS08200,BMG_DS031084,,UMLS ID:C1275278,,,,,extraskeletal myxoid chondrosarcoma,MONDO:0012825,,,extraskeletal myxoid chondrosarcoma,DOID:4549,,OMIM ID:612237 +BMGC_DS08201,BMG_DS031085,,UMLS ID:C1275279,,,,,,,,,extraskeletal mesenchymal chondrosarcoma,DOID:4548,, +BMGC_DS08202,BMG_DS031134,Funisitis (disorder),UMLS ID:C1275592,Funisitis (disorder) | Funisitis | Inflammation of umbilical cord,SNOMEDCT ID:396343006,,,funisitis,MONDO:0000410,,,,,, +BMGC_DS08203,BMG_DS031135,,UMLS ID:C1275668,,,,,melanotic medulloblastoma,MONDO:0002796,,,melanotic medulloblastoma,DOID:3868,, +BMGC_DS08204,BMG_DS031136,Meibomian gland dysfunction,UMLS ID:C1275684,Meibomian gland dysfunction (disorder) | Meibomian gland dysfunction | Posterior blepharitis | MGD-Meibomian gland dysfunction,SNOMEDCT ID:397549002,,,,,,,,,,OMIM ID:MTHU045781 +BMGC_DS08205,BMG_DS031137,Avellino corneal dystrophy,UMLS ID:C1275685,Avellino corneal dystrophy | Granular-lattice corneal dystrophy | Granular corneal dystrophy type II | Granular corneal dystrophy type II (disorder),SNOMEDCT ID:397568004,,,granular corneal dystrophy type II,MONDO:0011855,,MeSH ID:C535474,granular corneal dystrophy 2,DOID:0060444,,OMIM ID:607541 +BMGC_DS08206,BMG_DS031139,Herpes zoster keratitis,UMLS ID:C1275687,Herpes zoster keratitis (disorder) | Herpes zoster keratitis | HZV (herpes zoster virus) keratitis,SNOMEDCT ID:397573005,,,,,,,,,, +BMGC_DS08207,BMG_DS031143,Congenital central hypoventilation,UMLS ID:C1275808,CCHS - Congenital central hypoventilation | Congenital pulmonary hypoventilation | Congenital central hypoventilation | Congenital central hypoventilation (disorder) | Ondine curse | CCHS - Congenital central hypoventilation | Congenital pulmonary hypoventilation | Congenital central hypoventilation | Ondine's curse | CCHS - Congenital central hypoventilation (finding) | Primary alveolar hypoventilation,SNOMEDCT ID:399040002 | SNOMEDCT ID:361207008,,,"central hypoventilation syndrome, congenital",MONDO:0800031,,,,,, +BMGC_DS08208,BMG_DS031160,Pena-Shokeir syndrome type I,UMLS ID:C1276035,"Pena-Shokeir syndrome type I (disorder) | Pena-Shokeir syndrome type I | Fetal akinesia-hypokinesia sequence | Foetal akinesia-hypokinesia sequence | Arthrogryposis multiplex congenita, pulmonary hypoplasia syndrome | FADS - foetal akinesia deformation sequence | FADS - fetal akinesia deformation sequence",SNOMEDCT ID:401138005,,,fetal akinesia deformation sequence 1,MONDO:0100101,,,fetal akinesia deformation sequence syndrome,DOID:0111375,,OMIM ID:208150 +BMGC_DS08209,BMG_DS031175,Impetiginized atopic dermatitis,UMLS ID:C1276076,Impetiginized atopic dermatitis (disorder) | Impetiginized atopic dermatitis | Infected atopic dermatitis,SNOMEDCT ID:402201001,,,,,,,,,, +BMGC_DS08210,BMG_DS031228,Infection due to Erysipelothrix rhusiopathiae (disorder),UMLS ID:C1276801,Infection caused by Erysipelothrix rhusiopathiae | Infection caused by Erysipelothrix insidiosa | Infection caused by Erysipelothrix rhusiopathiae (disorder),SNOMEDCT ID:266005008,,,Erysipelothrix rhusiopathiae infectious disease,MONDO:0006752,,,,,, +BMGC_DS08211,BMG_DS031257,Postnatal infection,UMLS ID:C1278797,Postnatal infection | Postnatal infection (disorder),SNOMEDCT ID:178280004,,,,,,,,,, +BMGC_DS08212,BMG_DS031259,Chlamydial urethritis,UMLS ID:C1278807,Chlamydial urethritis | Inflammation of urethra caused by Chlamydia (disorder) | Inflammation of urethra caused by Chlamydia,SNOMEDCT ID:236683007,,,,,,,,,, +BMGC_DS08213,BMG_DS031262,Westphal disease,UMLS ID:C1279186,Familial periodic paralysis | Myoplegic dystrophy | Familial recurrent paralysis | Familial myoplegia | Cavarre disease | Periodic myotonia | Familial periodic paralysis (disorder) | Westphal disease | Westphal disease (disorder) | Familial periodic paralysis | Familial periodic paralysis (disorder),SNOMEDCT ID:267607008 | SNOMEDCT ID:182747006 | SNOMEDCT ID:54696002,,,Westphal disease,MONDO:0042980,,MeSH ID:C536694,,,, +BMGC_DS08214,BMG_DS031290,periodic paralysis (finding),UMLS ID:C1279412,Periodic paralysis | Periodic paralysis (finding),SNOMEDCT ID:198030008,,,periodic paralysis,MONDO:0016122,,,,,, +BMGC_DS08215,BMG_DS031293,X-Linked Combined Immunodeficiency Diseases,UMLS ID:C1279481,,,,,T-B+ severe combined immunodeficiency due to gamma chain deficiency,MONDO:0010315,X-Linked Combined Immunodeficiency Diseases,MeSH ID:D053632,X-linked severe combined immunodeficiency,DOID:0060013,,OMIM ID:300400 +BMGC_DS08216,BMG_DS031299,Tinea profunda (disorder),UMLS ID:C1279621,Tinea profunda | Tinea profunda (disorder) | Tinea profunda | Majocchi's granuloma | Tinea profunda (disorder),SNOMEDCT ID:58950002 | SNOMEDCT ID:214600002,,,tinea profunda,MONDO:0001698,,,tinea profunda,DOID:13368,, +BMGC_DS08217,BMG_DS031304,,UMLS ID:C1279945,,,,,,,,,acute interstitial pneumonia,DOID:2800,, +BMGC_DS08218,BMG_DS031310,Lipoatrophy,UMLS ID:C1280433,Lipoatrophy | Lipoatrophy (disorder),SNOMEDCT ID:248315005,,,,,,,,,,OMIM ID:MTHU049594 +BMGC_DS08219,BMG_DS031312,Podoconiosis,UMLS ID:C1280469,Podoconiosis (disorder) | Podoconiosis,SNOMEDCT ID:890181005,,,podoconiosis,MONDO:0005425,Elephantiasis,MeSH ID:D004604,podoconiosis,DOID:0050138,, +BMGC_DS08220,BMG_DS031319,,UMLS ID:C1280764,,,,,Jumping Frenchmen of Maine,MONDO:0009481,,,,,,OMIM ID:244100 +BMGC_DS08221,BMG_DS031322,"Von Willebrand disease, platelet type",UMLS ID:C1280798,,,,,platelet-type von Willebrand disease,MONDO:0008332,,MeSH ID:C536458,,,,OMIM ID:177820 +BMGC_DS08222,BMG_DS031411,Ocular Cicatricial Pemphigoid,UMLS ID:C1282359,,,,,ocular cicatricial pemphigoid,MONDO:0008109,"Pemphigoid, Benign Mucous Membrane",MeSH ID:D010390,,,,OMIM ID:164185 +BMGC_DS08223,BMG_DS031422,,UMLS ID:C1282500,,,,,metastasis from malignant tumor of colon,MONDO:0041448,,,,,, +BMGC_DS08224,BMG_DS031441,Enthesitis,UMLS ID:C1282952,Enthesitis | Enthesitis (disorder),SNOMEDCT ID:359643005,,,enthesitis,MONDO:0024419,,,,,, +BMGC_DS08225,BMG_DS031448,"von Willebrand Disease, Type 2A",UMLS ID:C1282968,,,,,von Willebrand disease type 2A,MONDO:0015628,"von Willebrand Disease, Type 2",MeSH ID:D056728,,,, +BMGC_DS08226,BMG_DS031449,"von Willebrand Disease, Type 2B",UMLS ID:C1282971,,,,,von Willebrand disease type 2B,MONDO:0015629,"von Willebrand Disease, Type 2",MeSH ID:D056728,,,, +BMGC_DS08227,BMG_DS031451,von Willebrand disease type 2M,UMLS ID:C1282974,von Willebrand disease type 2M | von Willebrand disease type 2M (disorder),SNOMEDCT ID:128111001 | SNOMEDCT ID:359729006,,,von Willebrand disease type 2M,MONDO:0015630,,,,,, +BMGC_DS08228,BMG_DS031452,"von Willebrand Disease, Type 2N",UMLS ID:C1282975,,,,,von Willebrand disease type 2N,MONDO:0015631,"von Willebrand Disease, Type 2",MeSH ID:D056728,,,, +BMGC_DS08229,BMG_DS031464,Lymphocytic gastritis,UMLS ID:C1283271,Lymphocytic gastritis | Lymphocytic gastritis (disorder),SNOMEDCT ID:235658000 | SNOMEDCT ID:360375007,,,lymphocytic gastritis,MONDO:0002844,,,lymphocytic gastritis,DOID:4035,, +BMGC_DS08230,BMG_DS031474,Butyrylcholinesterase deficiency,UMLS ID:C1283400,Serum cholinesterase defect | Butyrylcholinesterase deficiency | Plasma cholinesterase deficiency | Suxamethonium paralysis | Serum cholinesterase deficiency | Cholinesterase deficiency | Pseudocholinesterase deficiency | Pseudocholinesterase deficiency (disorder),SNOMEDCT ID:191397007,,,butyrylcholinesterase deficiency,MONDO:0015270,,MeSH ID:C537417,,,,OMIM ID:617936 +BMGC_DS08231,BMG_DS031494,"Sucrase-isomaltase deficiency, congenital",UMLS ID:C1283620,,,,,congenital sucrase-isomaltase deficiency,MONDO:0009114,,MeSH ID:C538139,congenital sucrase-isomaltase deficiency,DOID:0111633,,OMIM ID:222900 +BMGC_DS08232,BMG_DS031527,Degenerative disorder,UMLS ID:C1285162,Degenerative disorder | Degenerative disorder (disorder),SNOMEDCT ID:362975008,,,,,,,neurodegenerative disease,DOID:1289,, +BMGC_DS08233,BMG_DS031540,Fetal Nutrition Disorders,UMLS ID:C1285261,,,,,,,Fetal Nutrition Disorders,MeSH ID:D048070,,,, +BMGC_DS08234,BMG_DS031543,Fetal ascites,UMLS ID:C1285291,Fetal ascites (disorder) | Fetal ascites | Foetal ascites,SNOMEDCT ID:363125002,,,,,,,,,,OMIM ID:MTHU003014 +BMGC_DS08235,BMG_DS031599,Lesion of ulnar nerve,UMLS ID:C1288279,Ulnar neuropathy | Ulnar neuropathy (disorder) | Lesion of ulnar nerve | Lesion of ulnar nerve (disorder) | Ulnar nerve lesion | Ulnar nerve lesion (disorder),SNOMEDCT ID:55802003 | SNOMEDCT ID:367475009 | SNOMEDCT ID:359834003,Lesion of ulnar nerve,ICD11 ID:8C10.1,ulnar nerve lesion,MONDO:0001458,,,ulnar nerve lesion,DOID:12168,ICD10 ID:G56.2, +BMGC_DS08236,BMG_DS031601,Amyloid of familial Mediterranean fever,UMLS ID:C1288287,Periodic disease | Paroxysmal polyserositis | Familial Mediterranean fever | Familial recurrent polyserositis | Familial paroxysmal polyserositis | Periodic polyserositis | Periodic peritonitis | Periodic familial peritonitis | MEF - Familial Mediterranean fever | Recurrent polyserositis | Benign paroxysmal peritonitis | FMF - Familial Mediterranean fever | Familial Mediterranean fever (disorder) | AA amyloidosis | AA amyloidosis (disorder) | Amyloid of familial Mediterranean fever | Amyloidosis due to familial Mediterranean fever (disorder) | Amyloidosis due to familial Mediterranean fever,SNOMEDCT ID:12579009 | SNOMEDCT ID:84137001 | SNOMEDCT ID:367528006,,,,,,,,,, +BMGC_DS08237,BMG_DS031662,Arthropathy associated with bacterial disease,UMLS ID:C1290139,Bacterial arthritis | Arthritis due to bacterial infection | Bacterial arthritis (disorder) | Arthropathy associated with bacterial disease | Arthropathy associated with bacterial disease (disorder),SNOMEDCT ID:48245008 | SNOMEDCT ID:111212009,,,,,,,,,, +BMGC_DS08238,BMG_DS031681,Subacute bursitis,UMLS ID:C1290159,Subacute bursitis | Subacute bursitis (disorder),SNOMEDCT ID:109298000,,,subacute bursitis,MONDO:0040698,,,,,, +BMGC_DS08239,BMG_DS031732,,UMLS ID:C1290244,,,,,sternal neoplasm,MONDO:0021578,,,sternum cancer,DOID:5090,, +BMGC_DS08240,BMG_DS031751,Nonspecific interstitial pneumonia,UMLS ID:C1290344,Nonspecific interstitial pneumonia | Nonspecific interstitial pneumonitis (disorder) | Nonspecific interstitial pneumonitis,SNOMEDCT ID:129452008,,,non-specific interstitial pneumonia,MONDO:0019622,,,nonspecific interstitial pneumonia,DOID:2801,, +BMGC_DS08241,BMG_DS031753,,UMLS ID:C1290353,,,,,epiglottis neoplasm,MONDO:0004109,,,epiglottis neoplasm,DOID:7105,, +BMGC_DS08242,BMG_DS031754,,UMLS ID:C1290358,,,,,lung hilum neoplasm,MONDO:0003639,,,hilar lung neoplasm,DOID:5767,, +BMGC_DS08243,BMG_DS031755,Acute disease of cardiovascular system,UMLS ID:C1290379,Acute disorder of cardiovascular system | Acute cardiovascular disorder | Acute cardiovascular disease | Acute disease of cardiovascular system | Acute disease of cardiovascular system (disorder),SNOMEDCT ID:128487001,,,,,,,,,, +BMGC_DS08244,BMG_DS031760,Structural disorder of heart,UMLS ID:C1290384,Structural disorder of heart | Structural disorder of heart (disorder),SNOMEDCT ID:128599005,,,,,,,,,, +BMGC_DS08245,BMG_DS031775,,UMLS ID:C1290401,,,,,neoplasm of endocardium,MONDO:0021378,,,endocardium cancer,DOID:5877,, +BMGC_DS08246,BMG_DS031776,,UMLS ID:C1290402,,,,,neoplasm of myocardium,MONDO:0021380,,,myocardium cancer,DOID:9299,, +BMGC_DS08247,BMG_DS031777,,UMLS ID:C1290403,,,,,neoplasm of epicardium,MONDO:0021379,,,epicardium cancer,DOID:4699,, +BMGC_DS08248,BMG_DS031778,,UMLS ID:C1290407,,,,,,,,,vascular cancer,DOID:175,, +BMGC_DS08249,BMG_DS032021,3-Hydroxyacyl-CoA Dehydrogenase Deficiency,UMLS ID:C1291230,,,,,3-hydroxyacyl-CoA dehydrogenase deficiency,MONDO:0017715,,MeSH ID:C535310,,,,OMIM ID:231530 +BMGC_DS08250,BMG_DS032036,Cortisone reductase deficiency,UMLS ID:C1291245,,,,,cortisone reductase deficiency,MONDO:0000193,,MeSH ID:C536447,cortisone reductase deficiency,DOID:0090139,, +BMGC_DS08251,BMG_DS032090,Deficiency of iodide peroxidase (disorder),UMLS ID:C1291299,Deficiency of iodinase | Deficiency of iodide peroxidase | Deficiency of iodide peroxidase (disorder),SNOMEDCT ID:124204003,,,thyroid dyshormonogenesis 2A,MONDO:0010133,,,,,,OMIM ID:274500 +BMGC_DS08252,BMG_DS032120,Transaldolase Deficiency,UMLS ID:C1291329,,,,,transaldolase deficiency,MONDO:0011624,,MeSH ID:C563207,,,,OMIM ID:606003 +BMGC_DS08253,BMG_DS032162,Deficiency of sedoheptulokinase,UMLS ID:C1291373,Deficiency of heptulokinase | Deficiency of sedoheptulokinase | Deficiency of sedoheptulokinase (disorder),SNOMEDCT ID:124309005,,,isolated sedoheptulokinase deficiency,MONDO:0014969,,,,,,OMIM ID:617213 +BMGC_DS08254,BMG_DS032175,D-glycericacidemia,UMLS ID:C1291386,,,,,,,,MeSH ID:C535767,D-glyceric aciduria,DOID:0111626,ICD10 ID:E72.59, +BMGC_DS08255,BMG_DS032190,Phosphoribosylpyrophosphate synthetase deficiency,UMLS ID:C1291401,Deficiency of ribose-phosphate pyrophosphokinase | Deficiency of ribose-phosphate pyrophosphokinase (disorder) | Phosphoribosylpyrophosphate synthetase deficiency,SNOMEDCT ID:124343001,,,phosphoribosylpyrophosphate synthetase deficiency,MONDO:0043176,,MeSH ID:C537897,,,, +BMGC_DS08256,BMG_DS032249,Deficiency of phosphoserine phosphatase,UMLS ID:C1291463,Deficiency of choline phosphatase | Deficiency of phosphoserine phosphatase | Deficiency of phosphoserine phosphatase (disorder),SNOMEDCT ID:124432005,,,PSPH deficiency,MONDO:0013531,,,,,,OMIM ID:614023 +BMGC_DS08257,BMG_DS032275,Hyaluronidase Deficiency,UMLS ID:C1291490,,,,,mucopolysaccharidosis type 9,MONDO:0011093,,MeSH ID:C563209,,,,OMIM ID:601492 +BMGC_DS08258,BMG_DS032297,Beta-Ureidopropionase Deficiency,UMLS ID:C1291512,,,,,beta-ureidopropionase deficiency,MONDO:0013164,,MeSH ID:C563210,,,,OMIM ID:613161 +BMGC_DS08259,BMG_DS032344,Deficiency of phosphoribosylaminoimidazole carboxylase,UMLS ID:C1291561,Deficiency of phosphoribosylaminoimidazole carboxylase | Deficiency of phosphoribosylaminoimidazole carboxylase (disorder),SNOMEDCT ID:124597000,,,phosphoribosylaminoimidazole carboxylase deficiency,MONDO:0859244,,,,,,OMIM ID:619859 +BMGC_DS08260,BMG_DS032347,Deficiency of aromatic-L-amino-acid decarboxylase,UMLS ID:C1291564,Deficiency of tryptophan decarboxylase | Deficiency of hydroxytryptophan decarboxylase | Deficiency of dopa decarboxylase | Deficiency of aromatic-L-amino-acid decarboxylase | Deficiency of aromatic-L-amino-acid decarboxylase (disorder),SNOMEDCT ID:124600004,,,aromatic L-amino acid decarboxylase deficiency,MONDO:0012084,,,aromatic L-amino acid decarboxylase deficiency,DOID:0090123,,OMIM ID:608643 +BMGC_DS08261,BMG_DS032389,Deficiency of maleylacetoacetate isomerase,UMLS ID:C1291607,Deficiency of maleylacetoacetate isomerase | Deficiency of maleylacetoacetate isomerase (disorder) | GSTZ1-gene related deficiency of maleylacetoacetate isomerase,SNOMEDCT ID:124664006,,,maleylacetoacetate isomerase deficiency,MONDO:0060527,,,,,,OMIM ID:617596 +BMGC_DS08262,BMG_DS032391,Ribose 5-Phosphate Isomerase Deficiency,UMLS ID:C1291609,,,,,ribose-5-P isomerase deficiency,MONDO:0012073,,MeSH ID:C563212,,,,OMIM ID:608611 +BMGC_DS08263,BMG_DS032402,Deficiency of bisphosphoglycerate mutase,UMLS ID:C1291620,Deficiency of glycerate phosphomutase | Deficiency of diphosphoglycerate mutase | Deficiency of bisphosphoglycerate synthase | Deficiency of bisphosphoglycerate mutase | Deficiency of bisphosphoglycerate mutase (disorder),SNOMEDCT ID:124678007,,,hemolytic anemia due to diphosphoglycerate mutase deficiency,MONDO:0009113,,,,,,OMIM ID:222800 +BMGC_DS08264,BMG_DS032437,,UMLS ID:C1292754,,,,,primary mediastinal large B-cell lymphoma,MONDO:0020323,,,,,, +BMGC_DS08265,BMG_DS032438,,UMLS ID:C1292758,,,,,T-lymphoblastic lymphoma,MONDO:0044917,,,,,, +BMGC_DS08266,BMG_DS032440,,UMLS ID:C1292772,,,,,"atypical chronic myeloid leukemia, BCR-ABL1 negative",MONDO:0004653,,,"atypical chronic myeloid leukemia, BCR-ABL1 negative",DOID:0060597,, +BMGC_DS08267,BMG_DS032441,,UMLS ID:C1292773,,,,,acute myeloid leukemia with multilineage dysplasia,MONDO:0019456,,,,,, +BMGC_DS08268,BMG_DS032442,,UMLS ID:C1292774,,,,,acute myeloid leukemia with t(8;21)(q22;q22) translocation,MONDO:0015166,,,,,, +BMGC_DS08269,BMG_DS032443,,UMLS ID:C1292775,,,,,acute myeloid leukemia with 11q23 abnormalities,MONDO:0020317,,,,,, +BMGC_DS08270,BMG_DS032444,,UMLS ID:C1292776,,,,,therapy related acute myeloid leukemia and myelodysplastic syndrome,MONDO:0019457,,,,,, +BMGC_DS08271,BMG_DS032445,,UMLS ID:C1292777,,,,,aggressive NK-cell leukemia,MONDO:0019470,,,aggressive NK-cell leukemia,DOID:1035,, +BMGC_DS08272,BMG_DS032446,,UMLS ID:C1292778,,,,,myeloproliferative neoplasm,MONDO:0020076,,,myeloproliferative neoplasm,DOID:2226,, +BMGC_DS08273,BMG_DS032453,Oxalosis,UMLS ID:C1298681,Oxalosis (disorder) | Oxalosis,SNOMEDCT ID:373607009,,,,,Hyperoxaluria,MeSH ID:D006959,,,ICD10 ID:E72.53, +BMGC_DS08274,BMG_DS032456,,UMLS ID:C1298692,,,,,cleft lip and alveolus,MONDO:0015420,,,,,, +BMGC_DS08275,BMG_DS032604,,UMLS ID:C1299237,,,,,endocervical carcinoma,MONDO:0004259,,,endocervical carcinoma,DOID:7519,, +BMGC_DS08276,BMG_DS032605,,UMLS ID:C1299238,,,,,exocervical carcinoma,MONDO:0002455,,,exocervical carcinoma,DOID:2892,, +BMGC_DS08277,BMG_DS032606,,UMLS ID:C1299239,,,,,subglottis carcinoma,MONDO:0004358,,,subglottis carcinoma,DOID:7764,, +BMGC_DS08278,BMG_DS032607,,UMLS ID:C1299240,,,,,carcinoma of supraglottis,MONDO:0004357,,,carcinoma of supraglottis,DOID:7763,, +BMGC_DS08279,BMG_DS032608,,UMLS ID:C1299247,,,,,,,,,ovarian cancer,DOID:2394,, +BMGC_DS08280,BMG_DS032610,Left Main Coronary Artery Disease,UMLS ID:C1299433,,,,,,,Coronary Artery Disease,MeSH ID:D003324,,,, +BMGC_DS08281,BMG_DS032638,Early cirrhosis,UMLS ID:C1299579,Early cirrhosis (disorder) | Early cirrhosis,SNOMEDCT ID:371139006,,,,,,,,,, +BMGC_DS08282,BMG_DS032650,Postural Orthostatic Tachycardia Syndrome,UMLS ID:C1299624,,,,,postural orthostatic tachycardia syndrome,MONDO:0011479,Postural Orthostatic Tachycardia Syndrome,MeSH ID:D054972,postural orthostatic tachycardia syndrome,DOID:0111154,,OMIM ID:604715 +BMGC_DS08283,BMG_DS032661,Extravasation injury,UMLS ID:C1299641,Extravasation injury (disorder) | Extravasation injury,SNOMEDCT ID:371100002,,,,,,,,,, +BMGC_DS08284,BMG_DS032676,Eosinophilic myositis (disorder),UMLS ID:C1299884,Eosinophilic myositis (disorder) | Eosinophilic myositis,SNOMEDCT ID:370474006,,,,,,,,,, +BMGC_DS08285,BMG_DS032717,,UMLS ID:C1300127,,,,,neoplasm with perivascular epithelioid cell differentiation,MONDO:0006359,,,perivascular epithelioid cell tumor,DOID:2643,, +BMGC_DS08286,BMG_DS032718,Chronic enlargement of lacrimal gland,UMLS ID:C1300133,Chronic enlargement of lacrimal gland | Chronic lacrimal gland enlargement | Chronic enlargement of lacrimal gland (disorder),SNOMEDCT ID:4839005,,,chronic lacrimal gland enlargement,MONDO:0001588,,,chronic lacrimal gland enlargement,DOID:12809,ICD10 ID:H04.03, +BMGC_DS08287,BMG_DS032724,Genochondromatosis,UMLS ID:C1300229,Genochondromatosis (disorder) | Genochondromatosis,SNOMEDCT ID:389264005,,,genochondromatosis,MONDO:0007653,,MeSH ID:C563215,,,,OMIM ID:137360 +BMGC_DS08288,BMG_DS032731,"Thanatophoric dysplasia, type 2",UMLS ID:C1300257,"Thanatophoric dysplasia, type 2 (disorder) | Thanatophoric dysplasia, type 2",SNOMEDCT ID:389158007,,,thanatophoric dysplasia type 2,MONDO:0008547,,MeSH ID:C536508,,,,OMIM ID:187601 +BMGC_DS08289,BMG_DS032732,"Spondyloepimetaphyseal dysplasia, sponastrime type",UMLS ID:C1300260,,,,,"spondyloepimetaphyseal dysplasia, sponastrime type",MONDO:0010068,,MeSH ID:C535786,,,,OMIM ID:271510 +BMGC_DS08290,BMG_DS032738,Brachydactyly syndrome type C,UMLS ID:C1300268,Brachydactyly syndrome type C (disorder) | Brachydactyly syndrome type C,SNOMEDCT ID:389169005,,,,,,,brachydactyly type C,DOID:0110970,, +BMGC_DS08291,BMG_DS032743,SAUL-WILSON SYNDROME,UMLS ID:C1300285,,,,,"microcephalic osteodysplastic dysplasia, Saul-Wilson type",MONDO:0019407,,,Saul-Wilson syndrome,DOID:0111673,,OMIM ID:606976 | OMIM ID:618150 +BMGC_DS08292,BMG_DS032744,Transient neonatal hyperparathyroidism,UMLS ID:C1300287,Transient neonatal hyperparathyroidism (disorder) | Transient neonatal hyperparathyroidism,SNOMEDCT ID:389201004,,,"hyperparathyroidism, transient neonatal",MONDO:0032591,,,,,,OMIM ID:618188 +BMGC_DS08293,BMG_DS032749,,UMLS ID:C1300347,,,,,atypical polypoid adenomyoma,MONDO:0003236,,,atypical polypoid adenomyoma,DOID:4993,, +BMGC_DS08294,BMG_DS032752,,UMLS ID:C1300585,,,,,prostate small cell carcinoma,MONDO:0006390,,,prostate small cell carcinoma,DOID:7141,, +BMGC_DS08295,BMG_DS032757,,UMLS ID:C1301048,,,,,mixed ductal-endocrine carcinoma of pancreas,MONDO:0004340,,,mixed ductal-endocrine carcinoma,DOID:7716,, +BMGC_DS08296,BMG_DS032764,,UMLS ID:C1301270,,,,,acantholytic acanthoma,MONDO:0002963,,,acantholytic acanthoma,DOID:4324,, +BMGC_DS08297,BMG_DS032766,,UMLS ID:C1301355,,,,,myelodysplastic/myeloproliferative neoplasm,MONDO:0006311,,,myelodysplastic/myeloproliferative neoplasm,DOID:4972,, +BMGC_DS08298,BMG_DS032767,,UMLS ID:C1301357,,,,,acute leukemia of ambiguous lineage,MONDO:0019460,,,,,, +BMGC_DS08299,BMG_DS032769,,UMLS ID:C1301362,,,,,primary cutaneous anaplastic large cell lymphoma,MONDO:0017598,,,,,, +BMGC_DS08300,BMG_DS032770,,UMLS ID:C1301363,,,,,CD4+/CD56+ hematodermic neoplasm,MONDO:0019467,,,,,, +BMGC_DS08301,BMG_DS032771,,UMLS ID:C1301364,,,,,dendritic cell sarcoma,MONDO:0004380,,,dendritic cell sarcoma,DOID:7849,, +BMGC_DS08302,BMG_DS032772,,UMLS ID:C1301365,,,,,systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease,MONDO:0020332,,,SM-AHNMD,DOID:4797,, +BMGC_DS08303,BMG_DS032782,Severe visual impairment,UMLS ID:C1301509,Severe visual impairment (disorder) | Severe visual impairment,SNOMEDCT ID:397541004,,,,,,,,,,OMIM ID:MTHU006121 +BMGC_DS08304,BMG_DS032784,Vaccinia keratitis,UMLS ID:C1301518,Vaccinia keratitis (disorder) | Vaccinia keratitis,SNOMEDCT ID:397552005,,,,,,,,,, +BMGC_DS08305,BMG_DS032795,Hypertension with albuminuria,UMLS ID:C1301626,"Pre-eclamptic toxemia | Pre-eclampsia | Pre-eclampsia (disorder) | PET - Pre-eclamptic toxaemia | EPH - Oedema, proteinuria and hypertension of pregnancy | Pre-eclamptic toxaemia | PET - Pre-eclamptic toxemia | EPH - Edema, proteinuria and hypertension of pregnancy | Hypertension with albuminuria | Gestosis | PE - Pre-eclampsia | Proteinuric hypertension of pregnancy | Severe pre-eclampsia | Severe pre-eclamptic toxemia | Severe pre-eclamptic toxaemia | Severe pre-eclampsia (disorder) | PET - Severe pre-eclamptic toxaemia | PET - Severe pre-eclamptic toxemia | Severe proteinuric hypertension of pregnancy | Hypertension with albuminuria (disorder) | Hypertension with albuminuria",SNOMEDCT ID:6758009 | SNOMEDCT ID:46764007 | SNOMEDCT ID:397748008,,,,,,,,,, +BMGC_DS08306,BMG_DS032821,,UMLS ID:C1302401,,,,,colorectal adenoma,MONDO:0005484,,,,,, +BMGC_DS08307,BMG_DS032825,,UMLS ID:C1302530,,,,,prostate squamous cell carcinoma,MONDO:0000993,,,prostate squamous cell carcinoma,DOID:10287,, +BMGC_DS08308,BMG_DS032827,,UMLS ID:C1302547,,,,,chronic lymphocytic leukemia/small lymphocytic lymphoma,MONDO:0003864,,,chronic lymphocytic leukemia/small lymphocytic lymphoma,DOID:6354,, +BMGC_DS08309,BMG_DS032828,,UMLS ID:C1302569,,,,,ovarian monodermal teratoma,MONDO:0003331,,,monodermal teratoma,DOID:5207,, +BMGC_DS08310,BMG_DS032844,,UMLS ID:C1302740,,,,,"fascial dystrophy, congenital",MONDO:0009219,,,,,,OMIM ID:228020 +BMGC_DS08311,BMG_DS032873,,UMLS ID:C1302848,,,,,epidermolytic nevus,MONDO:0044656,,,,,, +BMGC_DS08312,BMG_DS032887,,UMLS ID:C1302995,,,,,congenital fibrosis of extraocular muscles,MONDO:0007614,,,,,, +BMGC_DS08313,BMG_DS032896,,UMLS ID:C1303009,,,,,congenital microcoria,MONDO:0007989,,,,,,OMIM ID:156600 +BMGC_DS08314,BMG_DS032899,Nicolaides Baraitser syndrome,UMLS ID:C1303073,,,,,intellectual disability-sparse hair-brachydactyly syndrome,MONDO:0011053,,MeSH ID:C536116,,,,OMIM ID:601358 +BMGC_DS08315,BMG_DS032905,Acute ST segment elevation myocardial infarction (disorder),UMLS ID:C1303258,Acute ST segment elevation myocardial infarction (disorder) | Acute ST segment elevation myocardial infarction | STEMI - ST elevation myocardial infarction,SNOMEDCT ID:401303003,,,,,,,,,, +BMGC_DS08316,BMG_DS033048,Idiopathic angioedema,UMLS ID:C1304177,Idiopathic angioedema (disorder) | Idiopathic angio-oedema | Idiopathic angioedema,SNOMEDCT ID:402382008,,,,,,,,,, +BMGC_DS08317,BMG_DS033060,Autoimmune Urticaria,UMLS ID:C1304191,,,,,autoimmune urticaria,MONDO:0025513,Chronic Urticaria,MeSH ID:D000080223,chronic urticaria,DOID:0080747,, +BMGC_DS08318,BMG_DS033062,Chronic Autoimmune Urticaria,UMLS ID:C1304193,,,,,,,Chronic Urticaria,MeSH ID:D000080223,chronic urticaria,DOID:0080747,, +BMGC_DS08319,BMG_DS033105,Familial localized cutaneous amyloidosis,UMLS ID:C1304242,Familial localized cutaneous amyloidosis (disorder) | Familial localised cutaneous amyloidosis | Familial localized cutaneous amyloidosis,SNOMEDCT ID:402463003,,,familial primary localized cutaneous amyloidosis,MONDO:0007101,,,,,, +BMGC_DS08320,BMG_DS033124,,UMLS ID:C1304295,,,,,adamantinoid basal cell epithelioma,MONDO:0002947,,,adamantinoid basal cell epithelioma,DOID:4290,, +BMGC_DS08321,BMG_DS033127,,UMLS ID:C1304300,,,,,,,,,nodular basal cell carcinoma,DOID:4280,, +BMGC_DS08322,BMG_DS033271,Linear and whorled nevoid hypermelanosis,UMLS ID:C1304501,Linear and whorled nevoid hypermelanosis (disorder) | Linear and whorled naevoid hypermelanosis | Linear and whorled nevoid hypermelanosis,SNOMEDCT ID:403803002,,,linear and whorled nevoid hypermelanosis,MONDO:0013688,,,,,,OMIM ID:614323 +BMGC_DS08323,BMG_DS033276,,UMLS ID:C1304508,,,,,spindle cell hemangioma,MONDO:0016222,,,spindle cell hemangioma,DOID:496,, +BMGC_DS08324,BMG_DS033277,,UMLS ID:C1304510,,,,,subungual glomus tumor,MONDO:0003341,,,subungual glomus tumor,DOID:5236,, +BMGC_DS08325,BMG_DS033278,,UMLS ID:C1304511,,,,,glomeruloid hemangioma,MONDO:0003172,,,glomeruloid hemangioma,DOID:486,, +BMGC_DS08326,BMG_DS033281,Ischemic fasciitis,UMLS ID:C1304514,Ischaemic fasciitis | Ischemic fasciitis (morphologic abnormality) | Ischemic fasciitis | Ischemic fasciitis (disorder) | Ischaemic fasciitis | Ischemic fasciitis,SNOMEDCT ID:1295240006 | SNOMEDCT ID:403990005,,,ischemic fasciitis,MONDO:0004834,,,ischemic fasciitis,DOID:9601,, +BMGC_DS08327,BMG_DS033289,"Thoracoabdominal aortic aneurysm, ruptured",UMLS ID:C1305122,"Thoracoabdominal aortic aneurysm, ruptured | Thoracoabdominal aortic aneurysm, ruptured (disorder)",SNOMEDCT ID:195265003,Thoracoabdominal aortic aneurysm with rupture,ICD11 ID:BD50.51,,,,,aortic aneurysm,DOID:3627,ICD10 ID:I71.5, +BMGC_DS08328,BMG_DS033292,,UMLS ID:C1305256,,,,,infiltrating angiolipoma,MONDO:0002710,,,infiltrating angiolipoma,DOID:3615,, +BMGC_DS08329,BMG_DS033296,Fibroadenosis of breast,UMLS ID:C1305875,Fibroadenosis of breast | Fibroadenosis of breast (disorder) | Fibroadenosis breast | Breast: [fibroadenosis] or [adenosis] | Adenosis - breast | Fibroadenosis of breast | Fibroadenosis - breast | Breast: [fibroadenosis] or [adenosis] (disorder),SNOMEDCT ID:23260002 | SNOMEDCT ID:270893004,Fibroadenosis of breast,ICD11 ID:GB20.1,,,,,breast fibroadenosis,DOID:10352,ICD10 ID:N60.2, +BMGC_DS08330,BMG_DS033298,Familial hematuria,UMLS ID:C1305904,Hereditary nephritis | Alport's syndrome | Familial nephritis | Familial hematuria | Hereditary glomerulonephritis | GN - Hereditary glomerulonephritis | Non-progressive hereditary glomerulonephritis | Benign familial haematuria | Benign familial hematuria | Familial haematuria | Hereditary nephritis (disorder) | Familial hematuria (disorder) | Familial haematuria | Familial hematuria,SNOMEDCT ID:57333009 | SNOMEDCT ID:399094007,,,,,,,,,, +BMGC_DS08331,BMG_DS033302,,UMLS ID:C1305934,,,,,benign mammary dysplasia,MONDO:0004808,,,,,, +BMGC_DS08332,BMG_DS033321,,UMLS ID:C1306065,,,,,developmental dysplasia of the hip 1,MONDO:0007729,,,,,,OMIM ID:142700 +BMGC_DS08333,BMG_DS033324,Oguchi disease,UMLS ID:C1306122,Oguchi's disease | Oguchi's disease (disorder) | Oguchi disease,SNOMEDCT ID:193687000,,,Oguchi disease,MONDO:0019152,,MeSH ID:C537743,hereditary night blindness | congenital stationary night blindness,DOID:8498;DOID:0050534,, +BMGC_DS08334,BMG_DS033328,,UMLS ID:C1306214,,,,,ACTH-producing pituitary gland adenoma,MONDO:0006068,,,ACTH-secreting pituitary adenoma,DOID:7004,, +BMGC_DS08335,BMG_DS033333,,UMLS ID:C1306247,,,,,melanotic neurilemmoma,MONDO:0002558,,,melanotic neurilemmoma,DOID:3205,, +BMGC_DS08336,BMG_DS033338,,UMLS ID:C1306503,,,,,,,,,omphalocele | umbilical hernia,DOID:0060327;DOID:0060321,, +BMGC_DS08337,BMG_DS033339,Chronic venous insufficiency,UMLS ID:C1306557,Peripheral venous insufficiency | Chronic venous insufficiency | Peripheral venous insufficiency (disorder),SNOMEDCT ID:20696009,,,chronic venous insufficiency,MONDO:0000492,,,,,, +BMGC_DS08338,BMG_DS033341,,UMLS ID:C1306573,,,,,,,,,botryoid rhabdomyosarcoma,DOID:3255,, +BMGC_DS08339,BMG_DS033344,Acute encephalopathy,UMLS ID:C1306587,Acute brain syndrome | Acute brain syndrome (disorder) | Delirium | Organic brain syndrome | Acute confusional state | OBS - Organic brain syndrome | Acute psycho-organic syndrome | Acute organic reaction | ABS - Acute brain syndrome | Acute brain syndrome | Delirium (disorder),SNOMEDCT ID:35610006 | SNOMEDCT ID:2776000,,,,,,,,,,OMIM ID:MTHU004221 +BMGC_DS08340,BMG_DS033345,"Congenital dyserythropoietic anemia, type II",UMLS ID:C1306589,"Congenital dyserythropoietic anemia, type II | Congenital dyserythropoietic anaemia, type II | Congenital dyserythropoietic anemia, type II (disorder) | Hereditary erythroblast multinuclearity with positive acid serum test | HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test",SNOMEDCT ID:68870007,,,congenital dyserythropoietic anemia type 2,MONDO:0009134,,,congenital dyserythropoietic anemia type II,DOID:0111401,,OMIM ID:224100 +BMGC_DS08341,BMG_DS033357,Wound Botulism,UMLS ID:C1306794,,,,,wound botulism,MONDO:0015803,Botulism,MeSH ID:D001906,,,, +BMGC_DS08342,BMG_DS033362,Subacute lymphocytic thyroiditis,UMLS ID:C1306804,Self-limiting autoimmune thyroiditis with transient hyperthyroidism and/or hypothyroidism | Self-limiting autoimmune thyroiditis with transient hyperthyroidism and/or hypothyroidism (disorder) | Subacute lymphocytic thyroiditis | Subacute lymphocytic thyroiditis (disorder),SNOMEDCT ID:18018005 | SNOMEDCT ID:361126006,,,subacute lymphocytic thyroiditis,MONDO:0004135,,,subacute lymphocytic thyroiditis,DOID:7187,, +BMGC_DS08343,BMG_DS033364,Periarthritis of shoulder,UMLS ID:C1306835,Adhesive capsulitis of shoulder (disorder) | Adhesive capsulitis of shoulder | Duplay's periarthritis syndrome | Pericapsulitis of shoulder | Frozen shoulder | Periarthritis of shoulder | Duplay periarthritis syndrome | Adhesive capsulitis of shoulder | Scapulohumeral fibrositis | Frozen shoulder | Scapulohumeral myofibrosis | Duplay's periarthritis syndrome | Periarthritis of shoulder | Pericapsulitis of shoulder | Adhesive capsulitis of shoulder (disorder) | Periarthritis of shoulder | Periarthritis of shoulder (disorder),SNOMEDCT ID:399114005 | SNOMEDCT ID:8753005 | SNOMEDCT ID:36527001,Adhesive capsulitis of shoulder,ICD11 ID:FB53.0,,,,,,,ICD10 ID:M75.0, +BMGC_DS08344,BMG_DS033365,,UMLS ID:C1306837,,,,,papillary renal cell carcinoma,MONDO:0017884,,,papillary renal cell carcinoma,DOID:4465,, +BMGC_DS08345,BMG_DS033366,Proliferative arthritis,UMLS ID:C1306838,Proliferative arthritis | Hypertrophic polyarthritis | Hypertrophic arthritis | Proliferative arthritis (disorder) | Osteoarthritis | Degenerative arthritis | OA - Osteoarthritis | Osteoarthrosis | OA - Osteoarthrosis | Osteoarthritis (disorder) | Degenerative arthropathy | Hypertrophic polyarthritis | Proliferative arthritis | Hypertrophic arthritis | Degenerative polyarthritis | Degenerative joint disease | Degenerative joint disease | Osteoarthrosis | Degenerative arthritis | Degenerative polyarthritis | Hypertrophic arthritis | Hypertrophic polyarthritis | Osteoarthritis | Proliferative arthritis | Degenerative arthropathy | Degenerative joint disease (disorder) | Rheumatoid arthritis | Atrophic arthritis | Rheumatic gout | Rheumatoid arthritis (disorder) | RA - Rheumatoid arthritis | Rheumatoid disease | RhA - Rheumatoid arthritis | Proliferative arthritis,SNOMEDCT ID:224729007 | SNOMEDCT ID:267888004 | SNOMEDCT ID:80843008 | SNOMEDCT ID:69896004,,,,,,,,,, +BMGC_DS08346,BMG_DS033375,Peripheral arterial occlusive disease,UMLS ID:C1306889,Peripheral arterial occlusive disease (disorder) | Peripheral arterial occlusive disease | PAOD - Peripheral arterial occlusive disease | Peripheral angiopathy | Peripheral artery occlusive disease | Peripheral vascular disease | Peripheral angiopathy | Peripheral vascular disease (disorder) | Peripheral arterial occlusive disease | PVD - Peripheral vascular disease | Peripheral arterial disease | PAOD - Peripheral arterial occlusive disease,SNOMEDCT ID:399957001 | SNOMEDCT ID:91523003,,,,,,,,,, +BMGC_DS08347,BMG_DS033377,Hereditary edema of legs,UMLS ID:C1313885,Hereditary edema of legs | Congenital lymphedema | Hereditary trophedema | Milroy's disease | Hereditary trophoedeme | Hereditary trophoedema | Hereditary oedema of legs | Congenital lymphoedema | Hereditary edema of legs (disorder) | Primary (congenital) lymphoedema | Primary (congenital) lymphedema | Hereditary edema of legs | Hereditary oedema of legs | Hereditary edema of legs (disorder),SNOMEDCT ID:75127007 | SNOMEDCT ID:205542007,,,,,,,hereditary lymphedema,DOID:0050580,, +BMGC_DS08348,BMG_DS033380,Trichorrhexis nodosa syndrome,UMLS ID:C1313961,,,,,"trichothiodystrophy 4, nonphotosensitive",MONDO:0021013,,MeSH ID:C536556,,,,OMIM ID:234050 +BMGC_DS08349,BMG_DS033383,Acute contagious conjunctivitis,UMLS ID:C1313983,Acute contagious conjunctivitis | Acute contagious conjunctivitis (disorder) | Mucopurulent conjunctivitis | Mucopurulent conjunctivitis (disorder),SNOMEDCT ID:240066005 | SNOMEDCT ID:17482009,,,acute contagious conjunctivitis,MONDO:0001226,,,acute contagious conjunctivitis,DOID:11213,, +BMGC_DS08350,BMG_DS033386,Hypertension complicating childbirth,UMLS ID:C1314752,Pregnancy-induced hypertension | GH - Gestational hypertension | Gestational hypertension | Hypertension induced by pregnancy | PIH - Pregnancy-induced hypertension | Pregnancy-induced hypertension (disorder),SNOMEDCT ID:48194001,,,,,,,,,, +BMGC_DS08351,BMG_DS033388,Impetigo herpetiformis,UMLS ID:C1314968,Pustular psoriasis | Pustular psoriasis (disorder) | Impetigo herpetiformis | Impetigo herpetiformis (disorder),SNOMEDCT ID:200973000 | SNOMEDCT ID:65539006,Generalised pustular psoriasis,ICD11 ID:EA90.40,impetigo herpetiformis,MONDO:0004591,,,impetigo herpetiformis | pustular psoriasis 14,DOID:0080474;DOID:8503,ICD10 ID:L40.1, +BMGC_DS08352,BMG_DS033398,Necrotizing vasculitis,UMLS ID:C1318520,Necrotizing vasculitis | Necrotising vasculitis | Necrotizing vasculitis (disorder),SNOMEDCT ID:11791001,,,necrotizing vasculitis,MONDO:0800113,,,,,, +BMGC_DS08353,BMG_DS033400,,UMLS ID:C1318533,,,,,secondary polycythemia,MONDO:0020115,,,acquired polycythemia,DOID:2834,, +BMGC_DS08354,BMG_DS033401,,UMLS ID:C1318543,,,,,tenosynovial giant cell tumor,MONDO:0002522,,,tenosynovial giant cell tumor,DOID:314,, +BMGC_DS08355,BMG_DS033403,,UMLS ID:C1318550,,,,,myelodysplastic syndrome with excess blasts-1,MONDO:0015040,,,,,, +BMGC_DS08356,BMG_DS033405,,UMLS ID:C1318558,,,,,,,,,large congenital melanocytic nevus,DOID:0111359,, +BMGC_DS08357,BMG_DS033406,Fusospirochetal pharyngitis,UMLS ID:C1318559,Fusospirochetosis | ANUG | Acute ulcerative gingivitis | Vincent's angina | Acute ulceromembranous gingivitis | Trench mouth | Vincent's gingivitis | Acute necrotizing ulcerative stomatitis | Acute necrotising ulcerative gingivitis | Fusospirochetal pharyngitis | Spirochetal stomatitis | Acute necrotizing ulcerative gingivitis | Spirochaetal stomatitis | Fusospirochaetal pharyngitis | Acute necrotising ulcerative stomatitis | Acute necrotizing ulcerative gingivitis (disorder) | Fusospirochetal pharyngitis (disorder) | Fusospirochaetal pharyngitis | Fusospirochetal pharyngitis,SNOMEDCT ID:171847006 | SNOMEDCT ID:399095008,Unspecified bacterial disease,ICD11 ID:1C4Z,,,,,,,ICD10 ID:A69.1, +BMGC_DS08358,BMG_DS033417,Staphylococcus aureus infection,UMLS ID:C1318973,Staphylococcus aureus infection | Infection caused by Staphylococcus aureus (disorder) | Infection caused by Staphylococcus aureus,SNOMEDCT ID:406602003,,,staphylococcus aureus infection,MONDO:0005545,,,,,, +BMGC_DS08359,BMG_DS033442,,UMLS ID:C1319315,,,,,colorectal adenocarcinoma,MONDO:0005008,,,colorectal adenocarcinoma,DOID:0050861,, +BMGC_DS08360,BMG_DS033443,,UMLS ID:C1319317,,,,,pharyngeal squamous cell carcinoma,MONDO:0000536,,,,,, +BMGC_DS08361,BMG_DS033448,Barber Say syndrome,UMLS ID:C1319466,,,,,Barber-Say syndrome,MONDO:0008853,,MeSH ID:C537908,Barber-Say syndrome,DOID:0060549,,OMIM ID:209885 +BMGC_DS08362,BMG_DS033453,"Asthma, Aspirin-Induced",UMLS ID:C1319853,,,,,,,"Asthma, Aspirin-Induced",MeSH ID:D055963,,,, +BMGC_DS08363,BMG_DS033476,Infection caused by Enterococcus,UMLS ID:C1320183,Infection caused by Enterococcus | Infection caused by Enterococcus (disorder),SNOMEDCT ID:406574007,,,,,,,,,, +BMGC_DS08364,BMG_DS033518,,UMLS ID:C1320471,,,,,cellular congenital mesoblastic nephroma,MONDO:0004454,,,cellular congenital mesoblastic nephroma,DOID:8082,, +BMGC_DS08365,BMG_DS033520,Allergic otitis externa,UMLS ID:C1320547,Allergic otitis externa (disorder) | Allergic otitis externa,SNOMEDCT ID:405821001,,,,,,,,,, +BMGC_DS08366,BMG_DS033523,Peripheral retinal degeneration,UMLS ID:C1320640,Peripheral retinal degeneration | Peripheral retinal degeneration (disorder) | Peripheral degeneration of retina | Peripheral retinal degeneration | Peripheral retinal degeneration (disorder) | Retinal atrophy | Retina atrophic | Peripheral retinal degeneration | Retina atrophic (disorder),SNOMEDCT ID:61536007 | SNOMEDCT ID:193393004 | SNOMEDCT ID:95704002,Peripheral retinal degeneration,ICD11 ID:9B78.4,peripheral retinal degeneration,MONDO:0001451,,,peripheral retinal degeneration,DOID:12161,ICD10 ID:H35.4, +BMGC_DS08367,BMG_DS033538,Drug-induced Hepatic Necrosis,UMLS ID:C1320834,,,,,,,Massive Hepatic Necrosis,MeSH ID:D047508,,,, +BMGC_DS08368,BMG_DS033551,Paraneoplastic hyponatremia,UMLS ID:C1321135,Paraneoplastic hyponatremia (disorder) | Paraneoplastic hyponatraemia | Paraneoplastic hyponatremia,SNOMEDCT ID:405566004,,,,,,,,,, +BMGC_DS08369,BMG_DS033555,,UMLS ID:C1321220,,,,,mixed germ cell-sex cord-stromal tumor,MONDO:0002478,,,mixed germ cell-sex cord neoplasm,DOID:2996,, +BMGC_DS08370,BMG_DS033578,,UMLS ID:C1321427,,,,,epithelioid malignant peripheral nerve sheath tumor,MONDO:0004540,,,epithelioid malignant peripheral nerve sheath tumor,DOID:8353,, +BMGC_DS08371,BMG_DS033589,Behçet's disease affecting oral mucosa,UMLS ID:C1321482,Behçet's disease affecting oral mucosa (disorder) | Behçet's disease affecting oral mucosa | Oral ulceration due to Behçet's disease | Behçet disease affecting oral mucosa,SNOMEDCT ID:403443000,,,,,,,,,, +BMGC_DS08372,BMG_DS033591,,UMLS ID:C1321489,,,,,Muir-Torre syndrome,MONDO:0008018,,,Muir-Torre syndrome,DOID:0050465,,OMIM ID:158320 +BMGC_DS08373,BMG_DS033595,,UMLS ID:C1321495,,,,,"acromegaloid changes, cutis verticis gyrata, and corneal leukoma",MONDO:0007050,,,,,,OMIM ID:102100 +BMGC_DS08374,BMG_DS033599,Shprintzen-Goldberg syndrome,UMLS ID:C1321551,Shprintzen Goldberg craniosynostosis syndrome (disorder) | Shprintzen Goldberg craniosynostosis syndrome | Marfanoid craniosynostosis syndrome | Shprintzen-Goldberg syndrome | Shprintzen syndrome | Velo-cardio-facial syndrome | Shprintzen syndrome (disorder) | Velocardiofacial syndrome | VCF-Velocardiofacial syndrome | 22q11 microdeletion with velocardiofacial syndrome phenotype,SNOMEDCT ID:719069008 | SNOMEDCT ID:83092002,,,Shprintzen-Goldberg syndrome,MONDO:0008426,,,,,,OMIM ID:182212 +BMGC_DS08375,BMG_DS033604,,UMLS ID:C1321683,,,,,melanoacanthoma,MONDO:0006579,,,melanoacanthoma,DOID:11684,, +BMGC_DS08376,BMG_DS033605,,UMLS ID:C1321709,,,,,melanotic psammomatous malignant peripheral nerve sheath tumor,MONDO:0003862,,,melanotic psammomatous malignant peripheral nerve sheath tumor,DOID:6344,, +BMGC_DS08377,BMG_DS033609,Gestosis,UMLS ID:C1321782,"Pre-eclamptic toxemia | Pre-eclampsia | Pre-eclampsia (disorder) | PET - Pre-eclamptic toxaemia | EPH - Oedema, proteinuria and hypertension of pregnancy | Pre-eclamptic toxaemia | PET - Pre-eclamptic toxemia | EPH - Edema, proteinuria and hypertension of pregnancy | Hypertension with albuminuria | Gestosis | PE - Pre-eclampsia | Proteinuric hypertension of pregnancy | Disorder of pregnancy | Disorder of pregnancy (disorder) | Severe pre-eclampsia | Severe pre-eclamptic toxemia | Severe pre-eclamptic toxaemia | Severe pre-eclampsia (disorder) | PET - Severe pre-eclamptic toxaemia | PET - Severe pre-eclamptic toxemia | Severe proteinuric hypertension of pregnancy",SNOMEDCT ID:6758009 | SNOMEDCT ID:173300003 | SNOMEDCT ID:46764007,,,,,,,,,, +BMGC_DS08378,BMG_DS033611,,UMLS ID:C1321865,,,,,childhood astrocytic tumor,MONDO:0002505,,,childhood astrocytic tumor,DOID:3079,, +BMGC_DS08379,BMG_DS033612,,UMLS ID:C1321869,,,,,pediatric intraocular retinoblastoma,MONDO:0004045,,,childhood intraocular retinoblastoma,DOID:6938,, +BMGC_DS08380,BMG_DS033613,,UMLS ID:C1321870,,,,,pediatric extraocular retinoblastoma,MONDO:0004350,,,childhood extraocular retinoblastoma,DOID:7747,, +BMGC_DS08381,BMG_DS033616,,UMLS ID:C1321904,,,,,sweat gland cancer,MONDO:0002206,,,sweat gland cancer,DOID:2095,, +BMGC_DS08382,BMG_DS033619,,UMLS ID:C1322252,,,,,chordoid glioma of the third ventricle,MONDO:0016706,,,chordoid glioma,DOID:3774,, +BMGC_DS08383,BMG_DS033622,,UMLS ID:C1322286,,,,,,,,,type C thymoma,DOID:4554,, +BMGC_DS08384,BMG_DS033624,,UMLS ID:C1327709,,,,,rectosigmoid carcinoma,MONDO:0002424,,,rectosigmoid cancer,DOID:2781,, +BMGC_DS08385,BMG_DS033625,,UMLS ID:C1327915,,,,,congenital amegakaryocytic thrombocytopenia,MONDO:0800451,,,congenital amegakaryocytic thrombocytopenia,DOID:0090118,, +BMGC_DS08386,BMG_DS033626,,UMLS ID:C1327916,,,,,Revesz syndrome,MONDO:0009990,,,,,,OMIM ID:268130 +BMGC_DS08387,BMG_DS033628,Oculootoradial syndrome,UMLS ID:C1327918,IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome | Oculootoradial syndrome (disorder) | Oculootoradial syndrome | Oculo-oto-radial syndrome | IVIC syndrome,SNOMEDCT ID:722019000,,,IVIC syndrome,MONDO:0007836,,MeSH ID:C535544,IVIC syndrome,DOID:0111381,,OMIM ID:147750 +BMGC_DS08388,BMG_DS033629,Myelocerebellar Disorder,UMLS ID:C1327919,,,,,ataxia-pancytopenia syndrome,MONDO:0008038,,MeSH ID:C563233,,,,OMIM ID:159550 +BMGC_DS08389,BMG_DS033630,,UMLS ID:C1328042,,,,,thymoma type B,MONDO:0016974,,,thymoma type B,DOID:3282,, +BMGC_DS08390,BMG_DS033632,Mucocutaneous leishmaniasis,UMLS ID:C1328252,Mucocutaneous infection caused by Leishmania (disorder) | Mucocutaneous infection caused by Leishmania | Mucocutaneous leishmaniasis | Infection by Leishmania braziliensis | Espundia | Uta | Leishmania braziliensis complex | Infection caused by Leishmania braziliensis | Infection caused by Leishmania braziliensis (disorder),SNOMEDCT ID:721813000 | SNOMEDCT ID:39625001,Mucocutaneous leishmaniasis,ICD11 ID:1F54.2,mucocutaneous leishmaniasis,MONDO:0005859,,,mucocutaneous leishmaniasis,DOID:9155,ICD10 ID:B55.2, +BMGC_DS08391,BMG_DS033635,"Neuropathy, Ataxia, and Retinitis Pigmentosa",UMLS ID:C1328349,,,,,NARP syndrome,MONDO:0010794,,MeSH ID:C537396,NARP syndrome,DOID:0111273,,OMIM ID:551500 +BMGC_DS08392,BMG_DS033636,Laryngoonychocutaneous syndrome,UMLS ID:C1328355,Laryngo-onycho-cutaneous syndrome (disorder) | Laryngo-onycho-cutaneous syndrome | LOC syndrome | LOGIC syndrome | Laryngoonychocutaneous syndrome | Shabbir syndrome,SNOMEDCT ID:722675000,,,laryngo-onycho-cutaneous syndrome,MONDO:0009513,,,,,,OMIM ID:245660 +BMGC_DS08393,BMG_DS033638,,UMLS ID:C1328385,,,,,breast adenoma,MONDO:0002058,,,breast adenoma,DOID:1625,, +BMGC_DS08394,BMG_DS033641,,UMLS ID:C1328479,,,,,pancreatic endocrine carcinoma,MONDO:0005893,,,pancreatic endocrine carcinoma,DOID:1798,, +BMGC_DS08395,BMG_DS033643,,UMLS ID:C1328504,,,,,castration-resistant prostate carcinoma,MONDO:0850353,,,,,, +BMGC_DS08396,BMG_DS033644,,UMLS ID:C1328544,,,,,invasive tubular breast carcinoma,MONDO:0003936,,,breast tubular carcinoma,DOID:6587,, +BMGC_DS08397,BMG_DS033645,Empty follicle syndrome,UMLS ID:C1328577,Empty follicle syndrome (disorder) | Empty follicle syndrome,SNOMEDCT ID:426958002,,,,,,,,,, +BMGC_DS08398,BMG_DS033646,Autoimmune Lymphoproliferative Syndrome,UMLS ID:C1328840,,,,,autoimmune lymphoproliferative syndrome type 1 | autoimmune lymphoproliferative syndrome,MONDO:0017979;MONDO:0011158,Autoimmune Lymphoproliferative Syndrome,MeSH ID:D056735,autoimmune lymphoproliferative syndrome,DOID:6688,,OMIM ID:601859 +BMGC_DS08399,BMG_DS033651,,UMLS ID:C1331534,,,,,extrahepatic bile duct adenoma,MONDO:0003445,,,extrahepatic bile duct adenoma,DOID:5438,, +BMGC_DS08400,BMG_DS033652,,UMLS ID:C1331535,,,,,intrahepatic bile duct adenoma,MONDO:0003444,,,intrahepatic bile duct adenoma,DOID:5437,, +BMGC_DS08401,BMG_DS033654,,UMLS ID:C1331541,,,,,thymic dysplasia,MONDO:0004195,,,thymic dysplasia,DOID:7350,, +BMGC_DS08402,BMG_DS033657,,UMLS ID:C1331544,,,,,scrotum melanoma,MONDO:0001652,,,scrotum melanoma,DOID:13160,, +BMGC_DS08403,BMG_DS033660,,UMLS ID:C1332079,,,,,ALK-positive anaplastic large cell lymphoma,MONDO:0017602,,,,,, +BMGC_DS08404,BMG_DS033661,,UMLS ID:C1332133,,,,,,,,,neonatal abstinence syndrome,DOID:9828,, +BMGC_DS08405,BMG_DS033662,Achard syndrome,UMLS ID:C1332135,,,,,Achard syndrome,MONDO:0007036,,MeSH ID:C536012,Achard syndrome,DOID:6686,,OMIM ID:100700 +BMGC_DS08406,BMG_DS033663,,UMLS ID:C1332137,,,,,acinar lung adenocarcinoma,MONDO:0003892,,,lung acinar adenocarcinoma,DOID:6482,, +BMGC_DS08407,BMG_DS033664,,UMLS ID:C1332139,,,,,prostatic acinar adenocarcinoma,MONDO:0002493,,,prostatic acinar adenocarcinoma,DOID:3024,, +BMGC_DS08408,BMG_DS033665,,UMLS ID:C1332140,,,,,acrofacial dysostosis,MONDO:0018237,,,Nager acrofacial dysostosis,DOID:5768,, +BMGC_DS08409,BMG_DS033666,,UMLS ID:C1332149,,,,,acute hemorrhagic encephalitis,MONDO:0003337,,,acute hemorrhagic encephalitis,DOID:5224,, +BMGC_DS08410,BMG_DS033669,,UMLS ID:C1332167,,,,,adenoid cystic breast carcinoma,MONDO:0003185,,,breast adenoid cystic carcinoma,DOID:4877,, +BMGC_DS08411,BMG_DS033670,,UMLS ID:C1332171,,,,,thymic adenosquamous carcinoma,MONDO:0003551,,,thymus adenosquamous carcinoma,DOID:5626,, +BMGC_DS08412,BMG_DS033672,,UMLS ID:C1332176,,,,,adrenal gland ganglioneuroblastoma,MONDO:0004477,,,adrenal gland ganglioneuroblastoma,DOID:8140,, +BMGC_DS08413,BMG_DS033674,,UMLS ID:C1332183,,,,,adult astrocytic tumor,MONDO:0002503,,,adult astrocytic tumor,DOID:3076,, +BMGC_DS08414,BMG_DS033675,,UMLS ID:C1332185,,,,,adult botryoid rhabdomyosarcoma,MONDO:0004012,,,adult botryoid rhabdomyosarcoma,DOID:6847,, +BMGC_DS08415,BMG_DS033676,,UMLS ID:C1332186,,,,,adult brain ependymoma,MONDO:0004352,,,adult brain ependymoma,DOID:7750,, +BMGC_DS08416,BMG_DS033677,,UMLS ID:C1332190,,,,,,,,,adult oligodendroglioma,DOID:3186,, +BMGC_DS08417,BMG_DS033678,,UMLS ID:C1332191,,,,,adult brainstem astrocytoma,MONDO:0003706,,,adult brainstem astrocytoma,DOID:5922,, +BMGC_DS08418,BMG_DS033679,,UMLS ID:C1332192,,,,,adult brain stem neoplasm,MONDO:0024797,,,brain stem cancer,DOID:4203,, +BMGC_DS08419,BMG_DS033680,,UMLS ID:C1332193,,,,,adult central nervous system immature teratoma,MONDO:0003734,,,adult central nervous system immature teratoma,DOID:6018,, +BMGC_DS08420,BMG_DS033681,,UMLS ID:C1332194,,,,,adult central nervous system mature teratoma,MONDO:0003732,,,adult central nervous system mature teratoma,DOID:6016,, +BMGC_DS08421,BMG_DS033682,,UMLS ID:C1332195,,,,,adult central nervous system mixed germ cell tumor,MONDO:0004406,,,adult central nervous system mixed germ cell tumor,DOID:7945,, +BMGC_DS08422,BMG_DS033684,,UMLS ID:C1332197,,,,,adult cerebellar neoplasm,MONDO:0003260,,,adult cerebellar neoplasm,DOID:5056,, +BMGC_DS08423,BMG_DS033685,,UMLS ID:C1332198,,,,,,,,,clear cell sarcoma,DOID:4233,, +BMGC_DS08424,BMG_DS033687,,UMLS ID:C1332204,,,,,adult leptomeningeal melanoma,MONDO:0003765,,,adult leptomeningeal melanoma,DOID:6090,, +BMGC_DS08425,BMG_DS033688,,UMLS ID:C1332206,,,,,adult lymphoma,MONDO:0003660,,,adult lymphoma,DOID:5825,, +BMGC_DS08426,BMG_DS033689,,UMLS ID:C1332207,,,,,adult mesenchymal chondrosarcoma,MONDO:0003042,,,adult mesenchymal chondrosarcoma,DOID:4547,, +BMGC_DS08427,BMG_DS033691,,UMLS ID:C1332211,,,,,adult pleomorphic rhabdomyosarcoma,MONDO:0004513,,,adult pleomorphic rhabdomyosarcoma,DOID:8251,, +BMGC_DS08428,BMG_DS033692,,UMLS ID:C1332215,,,,,adult spinal cord ependymoma,MONDO:0004361,,,adult spinal cord ependymoma,DOID:7788,, +BMGC_DS08429,BMG_DS033693,,UMLS ID:C1332219,,,,,adult kidney Wilms tumor,MONDO:0024675,,,nephroblastoma,DOID:2154,, +BMGC_DS08430,BMG_DS033694,,UMLS ID:C1332220,,,,,adult xanthogranuloma,MONDO:0004385,,,adult xanthogranuloma,DOID:7875,, +BMGC_DS08431,BMG_DS033695,,UMLS ID:C1332221,,,,,adult yolk sac tumor,MONDO:0003404,,,adult endodermal sinus tumor,DOID:5348,, +BMGC_DS08432,BMG_DS033696,,UMLS ID:C1332222,,,,,aflatoxin-related hepatocellular carcinoma,MONDO:0003245,,,aflatoxins-related hepatocellular carcinoma,DOID:5022,, +BMGC_DS08433,BMG_DS033697,,UMLS ID:C1332232,,,,,aleukemic monocytic leukemia cutis,MONDO:0004051,,,aleukemic monocytic leukemia cutis,DOID:6958,, +BMGC_DS08434,BMG_DS033699,,UMLS ID:C1332243,,,,,ampulla of vater adenocarcinoma,MONDO:0002670,,,ampulla of Vater adenocarcinoma,DOID:3502,, +BMGC_DS08435,BMG_DS033700,,UMLS ID:C1332245,,,,,ampulla of vater adenosquamous carcinoma,MONDO:0003553,,,ampulla of Vater adenosquamous carcinoma,DOID:5628,, +BMGC_DS08436,BMG_DS033701,,UMLS ID:C1332246,,,,,ampulla of vater clear cell adenocarcinoma,MONDO:0003388,,,ampulla of Vater clear cell adenocarcinoma,DOID:5308,, +BMGC_DS08437,BMG_DS033702,,UMLS ID:C1332248,,,,,ampulla of vater mucinous adenocarcinoma,MONDO:0002736,,,ampulla of Vater mucinous adenocarcinoma,DOID:3693,, +BMGC_DS08438,BMG_DS033703,,UMLS ID:C1332249,,,,,ampullary signet ring cell adenocarcinoma,MONDO:0002669,,,ampullary signet ring cell adenocarcinoma,DOID:3501,, +BMGC_DS08439,BMG_DS033704,,UMLS ID:C1332250,,,,,ampulla of vater small cell neuroendocrine carcinoma,MONDO:0004117,,,ampulla of Vater small cell carcinoma,DOID:7136,, +BMGC_DS08440,BMG_DS033705,,UMLS ID:C1332251,,,,,ampulla of vater squamous cell carcinoma,MONDO:0003490,,,ampulla of Vater squamous cell carcinoma,DOID:5527,, +BMGC_DS08441,BMG_DS033706,,UMLS ID:C1332257,,,,,anus adenocarcinoma,MONDO:0002652,,,anus adenocarcinoma,DOID:3447,, +BMGC_DS08442,BMG_DS033707,,UMLS ID:C1332259,,,,,anal canal adenocarcinoma,MONDO:0002735,,,anal canal adenocarcinoma,DOID:3692,, +BMGC_DS08443,BMG_DS033708,,UMLS ID:C1332261,,,,,anal canal Paget disease,MONDO:0004468,,,anal canal Paget's disease,DOID:8119,, +BMGC_DS08444,BMG_DS033710,,UMLS ID:C1332265,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08445,BMG_DS033712,,UMLS ID:C1332267,,,,,anus leiomyosarcoma,MONDO:0003358,,,anus leiomyosarcoma,DOID:5267,, +BMGC_DS08446,BMG_DS033713,,UMLS ID:C1332268,,,,,anus lymphoma,MONDO:0001888,,,anus lymphoma,DOID:14139,, +BMGC_DS08447,BMG_DS033714,,UMLS ID:C1332269,,,,,anal margin basal cell carcinoma,MONDO:0002940,,,anal margin basal cell carcinoma,DOID:4283,, +BMGC_DS08448,BMG_DS033715,,UMLS ID:C1332270,,,,,perianal skin Paget disease,MONDO:0004337,,,perianal skin Paget's disease,DOID:7708,, +BMGC_DS08449,BMG_DS033716,,UMLS ID:C1332272,,,,,anal mucinous adenocarcinoma,MONDO:0002734,,,anal colloid adenocarcinoma,DOID:3691,, +BMGC_DS08450,BMG_DS033717,,UMLS ID:C1332273,,,,,anal canal neuroendocrine neoplasm,MONDO:0003504,,,anal neuroendocrine tumor,DOID:5545,, +BMGC_DS08451,BMG_DS033718,,UMLS ID:C1332274,,,,,anal Paget disease,MONDO:0002651,,,anal Paget's disease,DOID:3446,, +BMGC_DS08452,BMG_DS033719,,UMLS ID:C1332276,,,,,anus rhabdomyosarcoma,MONDO:0002864,,,anus rhabdomyosarcoma,DOID:4066,, +BMGC_DS08453,BMG_DS033720,,UMLS ID:C1332277,,,,,anus sarcoma,MONDO:0002865,,,anus sarcoma,DOID:4067,, +BMGC_DS08454,BMG_DS033721,,UMLS ID:C1332278,,,,,anal verrucous carcinoma,MONDO:0004131,,,anal Buschke-Lowenstein tumor,DOID:7175,, +BMGC_DS08455,BMG_DS033723,,UMLS ID:C1332301,,,,,anterior cranial fossa meningioma,MONDO:0002997,,,anterior cranial fossa meningioma,DOID:4436,, +BMGC_DS08456,BMG_DS033724,,UMLS ID:C1332302,,,,,anterior foramen magnum meningioma,MONDO:0003868,,,anterior foramen magnum meningioma,DOID:6381,, +BMGC_DS08457,BMG_DS033725,,UMLS ID:C1332308,,,,,anterior optic tract meningioma,MONDO:0003858,,,anterior optic tract meningioma,DOID:6334,, +BMGC_DS08458,BMG_DS033726,,UMLS ID:C1332309,,,,,anti-basement membrane glomerulonephritis,MONDO:0003136,,,anti-basement membrane glomerulonephritis,DOID:4780,, +BMGC_DS08459,BMG_DS033727,,UMLS ID:C1332312,,,,,aorta angiosarcoma,MONDO:0003023,,,aorta angiosarcoma,DOID:4510,, +BMGC_DS08460,BMG_DS033728,,UMLS ID:C1332314,,,,,apocrine adenosis of breast,MONDO:0003726,,,apocrine adenosis of breast,DOID:5999,, +BMGC_DS08461,BMG_DS033729,,UMLS ID:C1332315,,,,,breast apocrine carcinoma in situ,MONDO:0004562,,,breast apocrine carcinoma in situ,DOID:8428,, +BMGC_DS08462,BMG_DS033730,,UMLS ID:C1332316,,,,,breast apocrine carcinoma,MONDO:0003934,,,breast apocrine carcinoma,DOID:6581,, +BMGC_DS08463,BMG_DS033731,,UMLS ID:C1332318,,,,,apocrine sweat gland neoplasm,MONDO:0003686,,,apocrine sweat gland neoplasm,DOID:5876,, +BMGC_DS08464,BMG_DS033733,,UMLS ID:C1332328,,,,,appendix lymphoma,MONDO:0001237,,,appendix lymphoma,DOID:11241,, +BMGC_DS08465,BMG_DS033735,,UMLS ID:C1332337,,,,,asbestos-related lung carcinoma,MONDO:0004295,,,asbestos-related lung carcinoma,DOID:7596,, +BMGC_DS08466,BMG_DS033736,,UMLS ID:C1332338,,,,,,,,,malignant mesothelioma,DOID:1790,, +BMGC_DS08467,BMG_DS033738,,UMLS ID:C1332341,,,,,asymmetric motor neuropathy,MONDO:0004280,,,asymmetric motor neuropathy,DOID:7559,, +BMGC_DS08468,BMG_DS033739,,UMLS ID:C1332342,,,,,asynchronous multifocal osteogenic sarcoma,MONDO:0003968,,,asynchronous multifocal osteogenic sarcoma,DOID:6697,, +BMGC_DS08469,BMG_DS033740,,UMLS ID:C1332346,,,,,atypical breast papilloma,MONDO:0004507,,,atypical breast papilloma,DOID:8227,, +BMGC_DS08470,BMG_DS033741,,UMLS ID:C1332355,,,,,,,,,autoimmune hepatitis,DOID:2048,, +BMGC_DS08471,BMG_DS033742,,UMLS ID:C1332356,,,,,autonomic nervous system neoplasm,MONDO:0002366,,,autonomic nervous system neoplasm,DOID:2621,, +BMGC_DS08472,BMG_DS033743,,UMLS ID:C1332460,,,,,Barrett adenocarcinoma,MONDO:0004405,,,Barrett's adenocarcinoma,DOID:7941,, +BMGC_DS08473,BMG_DS033744,,UMLS ID:C1332462,,,,,basaloid carcinoma of the penis,MONDO:0004089,,,penis basaloid carcinoma,DOID:7047,, +BMGC_DS08474,BMG_DS033745,,UMLS ID:C1332463,,,,,basaloid large cell lung carcinoma,MONDO:0004087,,,basaloid lung carcinoma,DOID:7045,, +BMGC_DS08475,BMG_DS033746,,UMLS ID:C1332464,,,,,thymic basaloid carcinoma,MONDO:0004092,,,thymus basaloid carcinoma,DOID:7050,, +BMGC_DS08476,BMG_DS033748,,UMLS ID:C1332490,,,,,benign dermal neurilemmoma,MONDO:0004134,,,benign dermal neurilemmoma,DOID:7181,, +BMGC_DS08477,BMG_DS033752,,UMLS ID:C1332513,,,,,benign mediastinal psammomatous neurilemmoma,MONDO:0004397,,,mediastinal psammomatous neurilemmoma,DOID:7921,, +BMGC_DS08478,BMG_DS033753,,UMLS ID:C1332517,,,,,,,,,mesenchymal cell neoplasm,DOID:3350,, +BMGC_DS08479,BMG_DS033757,,UMLS ID:C1332532,,,,,benign perivascular tumor,MONDO:0003342,,,benign perivascular tumor,DOID:5238,, +BMGC_DS08480,BMG_DS033763,,UMLS ID:C1332551,,,,,bilateral meningioma of optic nerve,MONDO:0003859,,,bilateral meningioma of optic nerve,DOID:6335,, +BMGC_DS08481,BMG_DS033764,,UMLS ID:C1332552,,,,,extrahepatic bile duct mucoepidermoid carcinoma,MONDO:0003089,,,bile duct mucoepidermoid carcinoma,DOID:4681,, +BMGC_DS08482,BMG_DS033765,,UMLS ID:C1332556,,,,,classic pulmonary blastoma,MONDO:0003128,,,classic pulmonary blastoma,DOID:4767,, +BMGC_DS08483,BMG_DS033766,,UMLS ID:C1332557,,,,,bladder clear cell adenocarcinoma,MONDO:0003386,,,bladder clear cell adenocarcinoma,DOID:5306,, +BMGC_DS08484,BMG_DS033769,,UMLS ID:C1332561,,,,,bladder lymphoma,MONDO:0001381,,,bladder lymphoma,DOID:11821,, +BMGC_DS08485,BMG_DS033770,,UMLS ID:C1332563,,,,,bladder signet ring cell adenocarcinoma,MONDO:0003891,,,bladder signet ring cell adenocarcinoma,DOID:6481,, +BMGC_DS08486,BMG_DS033771,,UMLS ID:C1332564,,,,,urinary bladder small cell neuroendocrine carcinoma,MONDO:0004114,,,urinary bladder small cell neuroendocrine carcinoma,DOID:7132,, +BMGC_DS08487,BMG_DS033775,,UMLS ID:C1332579,,,,,bone leiomyosarcoma,MONDO:0002624,,,bone leiomyosarcoma,DOID:3367,, +BMGC_DS08488,BMG_DS033776,,UMLS ID:C1332581,,,,,liposarcoma of bone,MONDO:0002634,,,liposarcoma of bone,DOID:3381,, +BMGC_DS08489,BMG_DS033777,,UMLS ID:C1332582,,,,,primary bone lymphoma,MONDO:0017814,,,bone lymphoma,DOID:6759,, +BMGC_DS08490,BMG_DS033778,,UMLS ID:C1332591,,,,,peripheral osteosarcoma,MONDO:0002628,,,peripheral osteosarcoma,DOID:3374,, +BMGC_DS08491,BMG_DS033780,,UMLS ID:C1332602,,,,,brachial plexus neoplasm,MONDO:0003700,,,brachial plexus neoplasm,DOID:5913,, +BMGC_DS08492,BMG_DS033781,,UMLS ID:C1332606,,,,,brain germinoma,MONDO:0002214,,,brain germinoma,DOID:2127,, +BMGC_DS08493,BMG_DS033782,,UMLS ID:C1332607,,,,,brain sarcoma,MONDO:0002216,,,brain sarcoma,DOID:2132,, +BMGC_DS08494,BMG_DS033783,,UMLS ID:C1332608,,,,,brain stem astrocytic neoplasm,MONDO:0003173,,,brain stem astrocytic neoplasm,DOID:4860,, +BMGC_DS08495,BMG_DS033784,,UMLS ID:C1332609,,,,,brain stem ependymoma,MONDO:0003477,,,brain stem ependymoma,DOID:5508,, +BMGC_DS08496,BMG_DS033785,,UMLS ID:C1332611,,,,,brain stem hemangioblastoma,MONDO:0003902,,,brain stem angioblastoma,DOID:6501,, +BMGC_DS08497,BMG_DS033786,,UMLS ID:C1332612,,,,,brainstem intraparenchymal clear cell meningioma,MONDO:0002916,,,brainstem intraparenchymal clear cell meningioma,DOID:4209,, +BMGC_DS08498,BMG_DS033787,,UMLS ID:C1332614,,,,,breast angiosarcoma,MONDO:0003024,,,breast angiosarcoma,DOID:4511,, +BMGC_DS08499,BMG_DS033788,,UMLS ID:C1332619,,,,,breast capillary hemangioma,MONDO:0003896,,,breast capillary hemangioma,DOID:6491,, +BMGC_DS08500,BMG_DS033789,,UMLS ID:C1332627,,,,,breast epithelioid hemangioma,MONDO:0003897,,,breast epithelioid hemangioma,DOID:6492,, +BMGC_DS08501,BMG_DS033790,,UMLS ID:C1332628,,,,,non-proliferative fibrocystic change of the breast,MONDO:0003724,,,non-proliferative fibrocystic change of the breast,DOID:5997,, +BMGC_DS08502,BMG_DS033792,,UMLS ID:C1332630,,,,,breast fibrosarcoma,MONDO:0003728,,,breast fibrosarcoma,DOID:6001,, +BMGC_DS08503,BMG_DS033793,,UMLS ID:C1332631,,,,,breast leiomyosarcoma,MONDO:0003371,,,breast leiomyosarcoma,DOID:5285,, +BMGC_DS08504,BMG_DS033794,,UMLS ID:C1332632,,,,,breast liposarcoma,MONDO:0003593,,,breast liposarcoma,DOID:5701,, +BMGC_DS08505,BMG_DS033797,,UMLS ID:C1332637,,,,,breast rhabdomyosarcoma,MONDO:0002859,,,breast rhabdomyosarcoma,DOID:4060,, +BMGC_DS08506,BMG_DS033798,,UMLS ID:C1332640,,,,,lung mucous gland adenoma,MONDO:0004079,,,bronchial mucus gland adenoma,DOID:7030,, +BMGC_DS08507,BMG_DS033800,Complement component 3 deficiency,UMLS ID:C1332655,Complement component 3 deficiency | Complement component 3 deficiency (disorder) | C3 deficiency,SNOMEDCT ID:771443008,,,,,,,complement component 3 deficiency,DOID:8354,, +BMGC_DS08508,BMG_DS033802,,UMLS ID:C1332840,,,,,carcinoma arising in nasal papillomatosis,MONDO:0004556,,,carcinoma arising in nasal papillomatosis,DOID:8415,, +BMGC_DS08509,BMG_DS033803,,UMLS ID:C1332844,,,,,heart fibrosarcoma,MONDO:0003742,,,heart fibrosarcoma,DOID:6033,, +BMGC_DS08510,BMG_DS033805,,UMLS ID:C1332847,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08511,BMG_DS033806,,UMLS ID:C1332848,,,,,heart leiomyosarcoma,MONDO:0003353,,,heart leiomyosarcoma,DOID:5261,, +BMGC_DS08512,BMG_DS033807,,UMLS ID:C1332849,,,,,heart lipoma,MONDO:0003841,,,heart lipoma,DOID:6285,, +BMGC_DS08513,BMG_DS033808,,UMLS ID:C1332850,,,,,heart lymphoma,MONDO:0003917,,,heart lymphoma,DOID:6547,, +BMGC_DS08514,BMG_DS033809,,UMLS ID:C1332852,,,,,cardiac rhabdomyoma,MONDO:0006123,,,,,, +BMGC_DS08515,BMG_DS033811,,UMLS ID:C1332863,,,,,cavernous hemangioma of face,MONDO:0003645,,,cavernous hemangioma of face,DOID:5776,, +BMGC_DS08516,BMG_DS033812,,UMLS ID:C1332865,,,,,cavernous sinus meningioma,MONDO:0002996,,,cavernous sinus meningioma,DOID:4435,, +BMGC_DS08517,BMG_DS033813,,UMLS ID:C1332866,,,,,cecum adenocarcinoma,MONDO:0006028,,,cecum adenocarcinoma,DOID:3039,, +BMGC_DS08518,BMG_DS033814,,UMLS ID:C1332867,,,,,cecum lymphoma,MONDO:0002034,,,cecum lymphoma,DOID:1522,, +BMGC_DS08519,BMG_DS033816,,UMLS ID:C1332875,,,,,central nervous system angiosarcoma,MONDO:0003021,,,central nervous system angiosarcoma,DOID:4504,, +BMGC_DS08520,BMG_DS033818,,UMLS ID:C1332879,,,,,central nervous system fibrosarcoma,MONDO:0003882,,,central nervous system fibrosarcoma,DOID:6451,, +BMGC_DS08521,BMG_DS033819,,UMLS ID:C1332880,,,,,central nervous system germ cell tumor,MONDO:0003000,,,central nervous system germ cell tumor,DOID:4439,, +BMGC_DS08522,BMG_DS033820,,UMLS ID:C1332882,,,,,central nervous system hematopoietic neoplasm,MONDO:0003641,,,central nervous system hematologic cancer,DOID:5772,, +BMGC_DS08523,BMG_DS033821,,UMLS ID:C1332883,,,,,central nervous system immature teratoma,MONDO:0003735,,,central nervous system immature teratoma,DOID:6019,, +BMGC_DS08524,BMG_DS033822,,UMLS ID:C1332884,,,,,central nervous system leukemia,MONDO:0001606,,,central nervous system leukemia,DOID:12969,, +BMGC_DS08525,BMG_DS033823,,UMLS ID:C1332885,,,,,central nervous system lipoma,MONDO:0003844,,,central nervous system lipoma,DOID:6293,, +BMGC_DS08526,BMG_DS033824,,UMLS ID:C1332886,,,,,central nervous system mature teratoma,MONDO:0003733,,,central nervous system mature teratoma,DOID:6017,, +BMGC_DS08527,BMG_DS033825,,UMLS ID:C1332887,,,,,central nervous system melanocytic neoplasm,MONDO:0003222,,,central nervous system melanocytic neoplasm,DOID:4955,, +BMGC_DS08528,BMG_DS033826,,UMLS ID:C1332891,,,,,central nervous system rhabdomyosarcoma,MONDO:0002850,,,central nervous system rhabdomyosarcoma,DOID:4048,, +BMGC_DS08529,BMG_DS033827,,UMLS ID:C1332892,,,,,central nervous system sarcoma,MONDO:0002217,,,central nervous system sarcoma,DOID:2133,, +BMGC_DS08530,BMG_DS033829,,UMLS ID:C1332895,,,,,central nervous system teratoma,MONDO:0002718,,,central nervous system teratoma,DOID:3640,, +BMGC_DS08531,BMG_DS033830,,UMLS ID:C1332896,,,,,central breast papilloma,MONDO:0004505,,,central breast papilloma,DOID:8224,, +BMGC_DS08532,BMG_DS033831,,UMLS ID:C1332900,,,,,cerebellar hemangioblastoma,MONDO:0003901,,,cerebellar angioblastoma,DOID:6500,, +BMGC_DS08533,BMG_DS033832,,UMLS ID:C1332902,,,,,papillary meningioma of the cerebellum,MONDO:0003261,,,papillary meningioma of the cerebellum,DOID:5057,, +BMGC_DS08534,BMG_DS033836,,UMLS ID:C1332907,,,,,cerebral hemisphere lipoma,MONDO:0003843,,,cerebral hemisphere lipoma,DOID:6291,, +BMGC_DS08535,BMG_DS033837,,UMLS ID:C1332911,,,,,cervical adenoid cystic carcinoma,MONDO:0006133,,,cervical adenoid cystic carcinoma,DOID:4867,, +BMGC_DS08536,BMG_DS033838,,UMLS ID:C1332912,,,,,cervical clear cell adenocarcinoma,MONDO:0006135,,,cervical clear cell adenocarcinoma,DOID:5303,, +BMGC_DS08537,BMG_DS033839,,UMLS ID:C1332913,,,,,cervical endometrioid adenocarcinoma,MONDO:0003665,,,cervical endometrioid adenocarcinoma,DOID:5830,, +BMGC_DS08538,BMG_DS033840,,UMLS ID:C1332916,,,,,cervical spinal canal and spinal cord meningioma,MONDO:0004396,,,cervical spinal canal and spinal cord meningioma,DOID:7915,, +BMGC_DS08539,BMG_DS033841,,UMLS ID:C1332917,,,,,cervical carcinosarcoma,MONDO:0002877,,,cervical carcinosarcoma,DOID:4112,, +BMGC_DS08540,BMG_DS033842,,UMLS ID:C1332919,,,,,cervical mucinous adenocarcinoma,MONDO:0002742,,,cervical mucinous adenocarcinoma,DOID:3701,, +BMGC_DS08541,BMG_DS033844,,UMLS ID:C1332923,,,,,cervicomedullary junction neoplasm,MONDO:0003108,,,cervicomedullary junction neoplasm,DOID:4707,, +BMGC_DS08542,BMG_DS033846,,UMLS ID:C1332933,,,,,chest wall lymphoma,MONDO:0003985,,,chest wall lymphoma,DOID:6758,, +BMGC_DS08543,BMG_DS033847,,UMLS ID:C1332934,,,,,chest wall parachordoma,MONDO:0004443,,,chest wall parachordoma,DOID:8043,, +BMGC_DS08544,BMG_DS033848,,UMLS ID:C1332936,,,,,solitary plasmacytoma of chest wall,MONDO:0002756,,,solitary plasmacytoma of chest wall,DOID:3723,, +BMGC_DS08545,BMG_DS033849,,UMLS ID:C1332944,,,,,childhood botryoid rhabdomyosarcoma,MONDO:0003992,,,childhood botryoid rhabdomyosarcoma,DOID:6786,, +BMGC_DS08546,BMG_DS033850,,UMLS ID:C1332945,,,,,childhood vagina botryoid rhabdomyosarcoma,MONDO:0003993,,,childhood vagina botryoid rhabdomyosarcoma,DOID:6787,, +BMGC_DS08547,BMG_DS033851,,UMLS ID:C1332946,,,,,vulvar childhood botryoid-type embryonal rhabdomyosarcoma,MONDO:0003995,,,vulvar childhood botryoid-type embryonal rhabdomyosarcoma,DOID:6789,, +BMGC_DS08548,BMG_DS033852,,UMLS ID:C1332948,,,,,childhood brain germinoma,MONDO:0004217,,,childhood brain germinoma,DOID:7429,, +BMGC_DS08549,BMG_DS033854,,UMLS ID:C1332950,,,,,childhood brainstem astrocytoma,MONDO:0003870,,,childhood brainstem astrocytoma,DOID:6386,, +BMGC_DS08550,BMG_DS033855,,UMLS ID:C1332951,,,,,childhood brain stem neoplasm,MONDO:0002914,,,childhood brain stem neoplasm,DOID:4206,, +BMGC_DS08551,BMG_DS033856,,UMLS ID:C1332953,,,,,childhood central nervous system germinoma,MONDO:0004452,,,childhood central nervous system germinoma,DOID:8078,, +BMGC_DS08552,BMG_DS033857,,UMLS ID:C1332954,,,,,childhood central nervous system immature teratoma,MONDO:0003958,,,childhood central nervous system immature teratoma,DOID:6654,, +BMGC_DS08553,BMG_DS033858,,UMLS ID:C1332955,,,,,childhood central nervous system mature teratoma,MONDO:0003875,,,childhood central nervous system mature teratoma,DOID:6423,, +BMGC_DS08554,BMG_DS033859,,UMLS ID:C1332956,,,,,childhood central nervous system mixed germ cell tumor,MONDO:0004257,,,childhood central nervous system mixed germ cell tumor,DOID:7516,, +BMGC_DS08555,BMG_DS033861,,UMLS ID:C1332959,,,,,childhood cerebellar neoplasm,MONDO:0003263,,,childhood cerebellar neoplasm,DOID:5059,, +BMGC_DS08556,BMG_DS033864,,UMLS ID:C1332965,,,,,congenital mesoblastic nephroma,MONDO:0017043,,,congenital mesoblastic nephroma,DOID:4773,, +BMGC_DS08557,BMG_DS033865,,UMLS ID:C1332968,,,,,childhood extraosseous osteosarcoma,MONDO:0004176,,,childhood extraosseous osteosarcoma,DOID:7297,, +BMGC_DS08558,BMG_DS033867,,UMLS ID:C1332972,,,,,pediatric infratentorial ependymoblastoma,MONDO:0004263,,,"childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered",DOID:7522,, +BMGC_DS08559,BMG_DS033868,,UMLS ID:C1332973,,,,,childhood infratentorial neoplasm,MONDO:0002915,,,childhood infratentorial neoplasm,DOID:4207,, +BMGC_DS08560,BMG_DS033869,,UMLS ID:C1332974,,,,,childhood intracortical osteosarcoma,MONDO:0004306,,,childhood intracortical osteosarcoma,DOID:7612,, +BMGC_DS08561,BMG_DS033870,,UMLS ID:C1332976,,,,,pediatric leptomeningeal melanoma,MONDO:0003764,,,childhood leptomeningeal melanoma,DOID:6089,, +BMGC_DS08562,BMG_DS033871,,UMLS ID:C1332977,,,,,childhood leukemia,MONDO:0004355,,,childhood leukemia,DOID:7757,, +BMGC_DS08563,BMG_DS033872,,UMLS ID:C1332979,,,,,pediatric lymphoma,MONDO:0003659,,,childhood lymphoma,DOID:5823,, +BMGC_DS08564,BMG_DS033873,,UMLS ID:C1332981,,,,,childhood mediastinal neurogenic neoplasm,MONDO:0003097,,,childhood mediastinal neurogenic tumor,DOID:4690,, +BMGC_DS08565,BMG_DS033874,,UMLS ID:C1332982,,,,,pediatric mesenchymal chondrosarcoma,MONDO:0003041,,,childhood mesenchymal chondrosarcoma,DOID:4546,, +BMGC_DS08566,BMG_DS033875,,UMLS ID:C1332983,,,,,childhood multilocular cystic kidney neoplasm,MONDO:0004356,,,childhood multilocular cystic kidney neoplasm,DOID:7762,, +BMGC_DS08567,BMG_DS033876,,UMLS ID:C1332984,,,,,pediatric myxoid chondrosarcoma,MONDO:0003898,,,childhood myxoid chondrosarcoma,DOID:6494,, +BMGC_DS08568,BMG_DS033877,,UMLS ID:C1332986,,,,,pediatric osteosarcoma,MONDO:0002623,,,childhood osteosarcoma,DOID:3361,, +BMGC_DS08569,BMG_DS033878,,UMLS ID:C1332987,,,,,childhood choriocarcinoma of the ovary,MONDO:0004535,,,childhood choriocarcinoma of the ovary,DOID:8336,, +BMGC_DS08570,BMG_DS033879,,UMLS ID:C1332988,,,,,pediatric ovarian dysgerminoma,MONDO:0004193,,,childhood ovarian dysgerminoma,DOID:7340,, +BMGC_DS08571,BMG_DS033880,,UMLS ID:C1332989,,,,,childhood ovarian embryonal carcinoma,MONDO:0004441,,,childhood ovarian embryonal carcinoma,DOID:8036,, +BMGC_DS08572,BMG_DS033881,,UMLS ID:C1332990,,,,,childhood immature teratoma of ovary,MONDO:0004082,,,childhood immature teratoma of ovary,DOID:7037,, +BMGC_DS08573,BMG_DS033882,,UMLS ID:C1332991,,,,,childhood mature teratoma of the ovary,MONDO:0003818,,,childhood mature teratoma of the ovary,DOID:6229,, +BMGC_DS08574,BMG_DS033883,,UMLS ID:C1332992,,,,,childhood teratoma of the ovary,MONDO:0003819,,,childhood teratoma of the ovary,DOID:6230,, +BMGC_DS08575,BMG_DS033884,,UMLS ID:C1332993,,,,,childhood ovarian yolk sac tumor,MONDO:0003759,,,childhood ovarian endodermal sinus tumor,DOID:6083,, +BMGC_DS08576,BMG_DS033885,,UMLS ID:C1332994,,,,,childhood parosteal osteosarcoma,MONDO:0003654,,,childhood parosteal osteogenic sarcoma,DOID:5809,, +BMGC_DS08577,BMG_DS033886,,UMLS ID:C1332995,,,,,childhood pilocytic astrocytoma,MONDO:0004000,,,childhood pilocytic astrocytoma,DOID:6812,, +BMGC_DS08578,BMG_DS033889,,UMLS ID:C1333000,,,,,childhood kidney angiomyolipoma,MONDO:0004554,,,childhood kidney angiomyolipoma,DOID:8410,, +BMGC_DS08579,BMG_DS033890,,UMLS ID:C1333001,,,,,childhood kidney cell carcinoma,MONDO:0003007,,,childhood kidney cell carcinoma,DOID:4454,, +BMGC_DS08580,BMG_DS033891,,UMLS ID:C1333003,,,,,childhood kidney neoplasm,MONDO:0002730,,,childhood kidney cancer,DOID:3675,, +BMGC_DS08581,BMG_DS033892,,UMLS ID:C1333006,,,,,childhood testicular choriocarcinoma,MONDO:0003786,,,childhood choriocarcinoma of the testis,DOID:6160,, +BMGC_DS08582,BMG_DS033893,,UMLS ID:C1333007,,,,,childhood embryonal testis carcinoma,MONDO:0003788,,,childhood embryonal testis carcinoma,DOID:6162,, +BMGC_DS08583,BMG_DS033894,,UMLS ID:C1333008,,,,,childhood testicular mixed embryonal carcinoma and teratoma,MONDO:0003888,,,childhood teratocarcinoma of the testis,DOID:6474,, +BMGC_DS08584,BMG_DS033895,,UMLS ID:C1333009,,,,,childhood testicular mixed germ cell cancer,MONDO:0003787,,,childhood testicular mixed germ cell tumor,DOID:6161,, +BMGC_DS08585,BMG_DS033896,,UMLS ID:C1333010,,,,,childhood testicular neoplasm,MONDO:0037250,,,testicular cancer,DOID:2998,, +BMGC_DS08586,BMG_DS033897,,UMLS ID:C1333014,,,,,childhood optic tract astrocytoma,MONDO:0003931,,,childhood optic tract astrocytoma,DOID:6575,, +BMGC_DS08587,BMG_DS033898,,UMLS ID:C1333015,,,,,childhood kidney Wilms tumor,MONDO:0024676,,,nephroblastoma,DOID:2154,, +BMGC_DS08588,BMG_DS033899,,UMLS ID:C1333016,,,,,childhood endodermal sinus tumor,MONDO:0003400,,,childhood endodermal sinus tumor,DOID:5342,, +BMGC_DS08589,BMG_DS033901,,UMLS ID:C1333024,,,,,choroid epithelioid cell melanoma,MONDO:0004085,,,choroid epithelioid cell melanoma,DOID:7041,, +BMGC_DS08590,BMG_DS033902,,UMLS ID:C1333025,,,,,choroid mixed cell melanoma,MONDO:0003913,,,choroid mixed cell melanoma,DOID:6525,, +BMGC_DS08591,BMG_DS033903,,UMLS ID:C1333026,,,,,choroid necrotic melanoma,MONDO:0004364,,,choroid necrotic melanoma,DOID:7807,, +BMGC_DS08592,BMG_DS033904,,UMLS ID:C1333027,,,,,choroid spindle cell melanoma,MONDO:0003745,,,choroid spindle cell melanoma,DOID:6041,, +BMGC_DS08593,BMG_DS033905,,UMLS ID:C1333037,,,,,chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation,MONDO:0004152,,,postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma,DOID:7230,, +BMGC_DS08594,BMG_DS033906,,UMLS ID:C1333038,,,,,pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma,MONDO:0004478,,,pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma,DOID:8144,, +BMGC_DS08595,BMG_DS033907,,UMLS ID:C1333042,,,,,chronic metabolic polyneuropathy,MONDO:0004224,,,chronic metabolic polyneuropathy,DOID:7441,, +BMGC_DS08596,BMG_DS033908,,UMLS ID:C1333046,,,,,"myeloproliferative neoplasm, unclassifiable",MONDO:0019452,,,,,, +BMGC_DS08597,BMG_DS033909,,UMLS ID:C1333048,,,,,chronic toxic polyneuropathy,MONDO:0004372,,,chronic toxic polyneuropathy,DOID:7825,, +BMGC_DS08598,BMG_DS033910,,UMLS ID:C1333050,,,,,ciliary body epithelioid cell melanoma,MONDO:0004086,,,ciliary body epithelioid cell melanoma,DOID:7042,, +BMGC_DS08599,BMG_DS033911,,UMLS ID:C1333051,,,,,ciliary body mixed cell melanoma,MONDO:0003911,,,ciliary body mixed cell melanoma,DOID:6523,, +BMGC_DS08600,BMG_DS033912,,UMLS ID:C1333052,,,,,ciliary body spindle cell melanoma,MONDO:0003746,,,ciliary body spindle cell melanoma,DOID:6043,, +BMGC_DS08601,BMG_DS033913,,UMLS ID:C1333059,,,,,conventional lipoma,MONDO:0000967,,,conventional lipoma,DOID:10193,, +BMGC_DS08602,BMG_DS033914,,UMLS ID:C1333062,,,,,classic variant of chromophobe renal cell carcinoma,MONDO:0003941,,,classic variant of chromophobe renal cell carcinoma,DOID:6605,, +BMGC_DS08603,BMG_DS033915,,UMLS ID:C1333065,,,,,clear cell-sugar-tumor of the lung,MONDO:0003637,,,lung clear cell-sugar-tumor,DOID:5763,, +BMGC_DS08604,BMG_DS033916,,UMLS ID:C1333069,,,,,thymus clear cell carcinoma,MONDO:0004475,,,thymus clear cell carcinoma,DOID:8137,, +BMGC_DS08605,BMG_DS033917,,UMLS ID:C1333070,,,,,clitoral carcinoma,MONDO:0024873,,,clitoris cancer,DOID:2401,, +BMGC_DS08606,BMG_DS033918,,UMLS ID:C1333071,,,,,clivus chordoma,MONDO:0003849,,,clivus chordoma,DOID:6312,, +BMGC_DS08607,BMG_DS033919,,UMLS ID:C1333072,,,,,clivus chondroid chordoma,MONDO:0003850,,,clivus chondroid chordoma,DOID:6313,, +BMGC_DS08608,BMG_DS033920,,UMLS ID:C1333073,,,,,clivus meningioma,MONDO:0003908,,,clivus meningioma,DOID:6517,, +BMGC_DS08609,BMG_DS033921,,UMLS ID:C1333074,,,,,rectal cloacogenic carcinoma,MONDO:0004052,,,rectal cloacogenic carcinoma,DOID:6959,, +BMGC_DS08610,BMG_DS033922,,UMLS ID:C1333081,,,,,colloid carcinoma of the pancreas,MONDO:0004341,,,colloid carcinoma of the pancreas,DOID:7717,, +BMGC_DS08611,BMG_DS033923,,UMLS ID:C1333082,,,,,adenosquamous colon carcinoma,MONDO:0003554,,,adenosquamous colon carcinoma,DOID:5629,, +BMGC_DS08612,BMG_DS033926,,UMLS ID:C1333086,,,,,cavernous hemangioma of colon,MONDO:0003644,,,cavernous hemangioma of colon,DOID:5775,, +BMGC_DS08613,BMG_DS033928,,UMLS ID:C1333091,,,,,colon Kaposi sarcoma,MONDO:0003997,,,colon Kaposi sarcoma,DOID:6804,, +BMGC_DS08614,BMG_DS033929,,UMLS ID:C1333092,,,,,colon leiomyoma,MONDO:0001092,,,colon leiomyoma,DOID:10656,, +BMGC_DS08615,BMG_DS033930,,UMLS ID:C1333093,,,,,colon leiomyosarcoma,MONDO:0003351,,,colon leiomyosarcoma,DOID:5259,, +BMGC_DS08616,BMG_DS033931,,UMLS ID:C1333094,,,,,colonic lymphangioma,MONDO:0001093,,,colonic lymphangioma,DOID:10657,, +BMGC_DS08617,BMG_DS033933,,UMLS ID:C1333097,,,,,colon neuroendocrine neoplasm,MONDO:0002882,,,colon neuroendocrine neoplasm,DOID:4118,, +BMGC_DS08618,BMG_DS033934,,UMLS ID:C1333098,,,,,colon sarcoma,MONDO:0003352,,,colon sarcoma,DOID:5260,, +BMGC_DS08619,BMG_DS033935,,UMLS ID:C1333099,,,,,colon small cell neuroendocrine carcinoma,MONDO:0003978,,,colon small cell carcinoma,DOID:6727,, +BMGC_DS08620,BMG_DS033936,,UMLS ID:C1333100,,,,,squamous cell carcinoma of colon,MONDO:0018513,,,colon squamous cell carcinoma,DOID:5519,, +BMGC_DS08621,BMG_DS033938,,UMLS ID:C1333113,,,,,colorectal leiomyoma,MONDO:0003299,,,large bowel leiomyoma,DOID:5143,, +BMGC_DS08622,BMG_DS033939,,UMLS ID:C1333114,,,,,colorectal lipoma,MONDO:0003885,,,large intestine lipoma,DOID:6460,, +BMGC_DS08623,BMG_DS033941,,UMLS ID:C1333120,,,,,columnar cell variant thyroid gland papillary carcinoma,MONDO:0004102,,,columnar cell papillary thyroid carcinoma,DOID:7088,, +BMGC_DS08624,BMG_DS033942,,UMLS ID:C1333122,,,,,lung combined large cell neuroendocrine carcinoma,MONDO:0004142,,,lung combined large cell neuroendocrine carcinoma,DOID:7207,, +BMGC_DS08625,BMG_DS033944,,UMLS ID:C1333125,,,,,combined small cell lung carcinoma,MONDO:0003438,,,lung combined type small cell carcinoma,DOID:5421,, +BMGC_DS08626,BMG_DS033945,,UMLS ID:C1333137,,,,,,,,,breast fibroadenoma,DOID:1618,, +BMGC_DS08627,BMG_DS033946,,UMLS ID:C1333147,,,,,congenital T-cell immunodeficiency,MONDO:0001222,,,T cell deficiency,DOID:11200,, +BMGC_DS08628,BMG_DS033947,,UMLS ID:C1333148,,,,,conjunctival intraepithelial neoplasm,MONDO:0003453,,,conjunctival intraepithelial neoplasm,DOID:5465,, +BMGC_DS08629,BMG_DS033948,,UMLS ID:C1333153,,,,,conus medullaris neoplasm,MONDO:0002719,,,conus medullaris neoplasm,DOID:3641,, +BMGC_DS08630,BMG_DS033949,,UMLS ID:C1333155,,,,,conventional angiosarcoma,MONDO:0003025,,,conventional angiosarcoma,DOID:4512,, +BMGC_DS08631,BMG_DS033950,,UMLS ID:C1333156,,,,,conventional fibrosarcoma,MONDO:0002677,,,conventional fibrosarcoma,DOID:3517,, +BMGC_DS08632,BMG_DS033951,,UMLS ID:C1333157,,,,,conventional leiomyosarcoma,MONDO:0003348,,,conventional leiomyosarcoma,DOID:5253,, +BMGC_DS08633,BMG_DS033952,,UMLS ID:C1333158,,,,,conventional malignant hemangiopericytoma,MONDO:0003800,,,conventional malignant hemangiopericytoma,DOID:6197,, +BMGC_DS08634,BMG_DS033953,,UMLS ID:C1333159,,,,,corneal intraepithelial neoplasm,MONDO:0003801,,,corneal intraepithelial neoplasm,DOID:6198,, +BMGC_DS08635,BMG_DS033954,,UMLS ID:C1333160,,,,,corpus callosum lipoma,MONDO:0003845,,,corpus callosum lipoma,DOID:6294,, +BMGC_DS08636,BMG_DS033955,,UMLS ID:C1333162,,,,,cranial nodular fasciitis,MONDO:0004186,,,cranial pseudosarcomatous fasciitis,DOID:7326,, +BMGC_DS08637,BMG_DS033957,,UMLS ID:C1333174,,,,,,,,,skin lipoma,DOID:10188,, +BMGC_DS08638,BMG_DS033958,,UMLS ID:C1333175,,,,,cutaneous liposarcoma,MONDO:0003600,,,cutaneous liposarcoma,DOID:5712,, +BMGC_DS08639,BMG_DS033959,,UMLS ID:C1333176,,,,,skin lymphangioma,MONDO:0024673,,,capillary lymphangioma,DOID:2286,, +BMGC_DS08640,BMG_DS033961,,UMLS ID:C1333265,,,,,deep hemangioma,MONDO:0003096,,,deep angioma,DOID:469,, +BMGC_DS08641,BMG_DS033962,,UMLS ID:C1333266,,,,,deep leiomyoma,MONDO:0003289,,,deep leiomyoma,DOID:5128,, +BMGC_DS08642,BMG_DS033963,,UMLS ID:C1333278,,,,,spinal cord dermoid cyst,MONDO:0004096,,,spinal cord dermoid cyst,DOID:7071,, +BMGC_DS08643,BMG_DS033965,,UMLS ID:C1333283,,,,,diaphragma sellae meningioma,MONDO:0004108,,,diaphragma sellae meningioma,DOID:7103,, +BMGC_DS08644,BMG_DS033966,,UMLS ID:C1333284,,,,,diencephalic astrocytomas,MONDO:0003169,,,diencephalic astrocytoma,DOID:4855,, +BMGC_DS08645,BMG_DS033967,,UMLS ID:C1333286,,,,,,,,,diencephalic neoplasm,DOID:3843,, +BMGC_DS08646,BMG_DS033969,Diffuse infiltrative lymphocytosis syndrome,UMLS ID:C1333292,Diffuse infiltrative lymphocytosis syndrome (disorder) | Diffuse infiltrative lymphocytosis syndrome | DILS - diffuse infiltrative lymphocytosis syndrome,SNOMEDCT ID:449784008,,,diffuse infiltrative lymphocytosis syndrome,MONDO:0003963,,,diffuse infiltrative lymphocytosis syndrome,DOID:6677,, +BMGC_DS08647,BMG_DS033973,,UMLS ID:C1333298,,,,,diffuse lipomatosis,MONDO:0006539,,,diffuse lipomatosis,DOID:3923,, +BMGC_DS08648,BMG_DS033974,,UMLS ID:C1333306,,,,,peripheral epithelioid sarcoma,MONDO:0004060,,,peripheral epithelioid sarcoma,DOID:6988,, +BMGC_DS08649,BMG_DS033975,,UMLS ID:C1333308,,,,,distal biliary tract carcinoma,MONDO:0003707,,,distal biliary tract carcinoma,DOID:5923,, +BMGC_DS08650,BMG_DS033976,,UMLS ID:C1333320,,,,,duodenal somatostatinoma,MONDO:0004236,,,duodenal somatostatinoma,DOID:7479,, +BMGC_DS08651,BMG_DS033977,,UMLS ID:C1333321,,,,,duodenal gastrin-producing neuroendocrine tumor,MONDO:0004411,,,duodenal gastrinoma,DOID:7959,, +BMGC_DS08652,BMG_DS033980,,UMLS ID:C1333369,,,,,early invasive cervical adenocarcinoma,MONDO:0004530,,,early invasive cervical adenocarcinoma,DOID:8307,, +BMGC_DS08653,BMG_DS033981,,UMLS ID:C1333370,,,,,microinvasive cervical squamous cell carcinoma,MONDO:0004552,,,microinvasive cervical squamous cell carcinoma,DOID:8409,, +BMGC_DS08654,BMG_DS033982,,UMLS ID:C1333371,,,,,eccrine sweat gland neoplasm,MONDO:0002090,,,eccrine sweat gland neoplasm,DOID:173,, +BMGC_DS08655,BMG_DS033984,Ectopic thymus,UMLS ID:C1333375,,,,,ectopic thymus,MONDO:0003848,,,ectopic thymus,DOID:6307,,OMIM ID:MTHU019219 +BMGC_DS08656,BMG_DS033985,,UMLS ID:C1333377,,,,,embryonal carcinoma of the central nervous system,MONDO:0018843,,,central nervous system embryonal carcinoma,DOID:7232,, +BMGC_DS08657,BMG_DS033986,,UMLS ID:C1333383,,,,,encapsulated thymoma,MONDO:0002587,,,encapsulated thymoma,DOID:3278,, +BMGC_DS08658,BMG_DS033987,,UMLS ID:C1333386,,,,,endobronchial leiomyoma,MONDO:0003944,,,endobronchial leiomyoma,DOID:6608,, +BMGC_DS08659,BMG_DS033988,,UMLS ID:C1333396,,,,,endometrial squamous cell carcinoma,MONDO:0006198,,,endometrial squamous cell carcinoma,DOID:5533,, +BMGC_DS08660,BMG_DS033989,,UMLS ID:C1333405,,,,,eosinophilic variant of chromophobe renal cell carcinoma,MONDO:0003942,,,eosinophilic variant of chromophobe renal cell carcinoma,DOID:6606,, +BMGC_DS08661,BMG_DS033990,,UMLS ID:C1333407,,,,,ependymal tumor,MONDO:0003266,,,high grade ependymoma,DOID:5074,, +BMGC_DS08662,BMG_DS033991,,UMLS ID:C1333411,,,,,epicardium lipoma,MONDO:0003840,,,epicardium lipoma,DOID:6284,, +BMGC_DS08663,BMG_DS033992,,UMLS ID:C1333414,,,,,epidermolytic acanthoma,MONDO:0002962,,,epidermolytic acanthoma,DOID:4323,, +BMGC_DS08664,BMG_DS033994,,UMLS ID:C1333416,,,,,epidural spinal canal angiolipoma,MONDO:0002712,,,epidural spinal canal angiolipoma,DOID:3617,, +BMGC_DS08665,BMG_DS033995,,UMLS ID:C1333417,,,,,epidural spinal canal meningioma,MONDO:0002778,,,epidural spinal canal meningioma,DOID:3809,, +BMGC_DS08666,BMG_DS033996,,UMLS ID:C1333419,,,,,,,,,liver benign neoplasm,DOID:916,, +BMGC_DS08667,BMG_DS033997,,UMLS ID:C1333420,,,,,epithelial predominant pulmonary blastoma,MONDO:0003129,,,epithelial predominant pulmonary blastoma,DOID:4768,, +BMGC_DS08668,BMG_DS033998,,UMLS ID:C1333422,,,,,epithelioid cell uveal melanoma,MONDO:0006200,,,uveal epithelioid cell melanoma,DOID:7040,, +BMGC_DS08669,BMG_DS034000,,UMLS ID:C1333441,,,,,esophageal adenoid cystic carcinoma,MONDO:0003186,,,esophageal adenoid cystic carcinoma,DOID:4878,, +BMGC_DS08670,BMG_DS034001,,UMLS ID:C1333443,,,,,esophageal basaloid carcinoma,MONDO:0004093,,,esophageal basaloid squamous cell carcinoma,DOID:7051,, +BMGC_DS08671,BMG_DS034002,,UMLS ID:C1333448,,,,,esophageal granular cell tumor,MONDO:0003251,,,malignant granular cell esophageal tumor,DOID:5040,, +BMGC_DS08672,BMG_DS034003,,UMLS ID:C1333453,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08673,BMG_DS034004,,UMLS ID:C1333454,,,,,esophagus leiomyosarcoma,MONDO:0003365,,,esophagus leiomyosarcoma,DOID:5276,, +BMGC_DS08674,BMG_DS034006,,UMLS ID:C1333456,,,,,esophagus liposarcoma,MONDO:0003586,,,esophagus liposarcoma,DOID:5694,, +BMGC_DS08675,BMG_DS034007,,UMLS ID:C1333459,,,,,esophagus lymphoma,MONDO:0001188,,,esophagus lymphoma,DOID:1106,, +BMGC_DS08676,BMG_DS034008,,UMLS ID:C1333460,,,,,esophageal melanoma,MONDO:0001192,,,esophagus melanoma,DOID:1108,, +BMGC_DS08677,BMG_DS034009,,UMLS ID:C1333461,,,,,mucoepidermoid esophageal carcinoma,MONDO:0003093,,,mucoepidermoid esophageal carcinoma,DOID:4686,, +BMGC_DS08678,BMG_DS034010,,UMLS ID:C1333462,,,,,,,,,esophageal neuroendocrine tumor,DOID:5784,, +BMGC_DS08679,BMG_DS034011,,UMLS ID:C1333463,,,,,neurofibroma of the esophagus,MONDO:0004837,,,neurofibroma of the esophagus,DOID:961,, +BMGC_DS08680,BMG_DS034012,,UMLS ID:C1333466,,,,,esophagus sarcoma,MONDO:0001204,,,esophagus sarcoma,DOID:1114,, +BMGC_DS08681,BMG_DS034014,,UMLS ID:C1333470,,,,,esophagus verrucous carcinoma,MONDO:0002762,,,esophagus verrucous carcinoma,DOID:3747,, +BMGC_DS08682,BMG_DS034015,,UMLS ID:C1333472,,,,,ethmoid sinus adenocarcinoma,MONDO:0002418,,,ethmoid sinus adenocarcinoma,DOID:2766,, +BMGC_DS08683,BMG_DS034016,,UMLS ID:C1333473,,,,,ethmoid sinus adenoid cystic carcinoma,MONDO:0006201,,,ethmoid sinus adenoid cystic carcinoma,DOID:2764,, +BMGC_DS08684,BMG_DS034017,,UMLS ID:C1333474,,,,,ethmoid sinus inverted papilloma,MONDO:0003925,,,ethmoid sinus inverted papilloma,DOID:6562,, +BMGC_DS08685,BMG_DS034018,,UMLS ID:C1333475,,,,,ethmoid sinus ectopic meningioma,MONDO:0004014,,,ethmoid sinus ectopic meningioma,DOID:6854,, +BMGC_DS08686,BMG_DS034019,,UMLS ID:C1333476,,,,,ethmoid sinus Schneiderian papilloma,MONDO:0003923,,,ethmoid sinus Schneiderian papilloma,DOID:6559,, +BMGC_DS08687,BMG_DS034020,,UMLS ID:C1333477,,,,,ethmoid sinus squamous cell carcinoma,MONDO:0002416,,,ethmoid sinus squamous cell carcinoma,DOID:2763,, +BMGC_DS08688,BMG_DS034021,,UMLS ID:C1333481,,,,,Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone,MONDO:0021123,,,Ewing sarcoma of bone,DOID:3368,, +BMGC_DS08689,BMG_DS034023,,UMLS ID:C1333491,,,,,external ear basal cell carcinoma,MONDO:0002943,,,external ear basal cell carcinoma,DOID:4287,, +BMGC_DS08690,BMG_DS034024,,UMLS ID:C1333492,,,,,external ear carcinoma,MONDO:0002944,,,external ear carcinoma,DOID:4288,, +BMGC_DS08691,BMG_DS034025,,UMLS ID:C1333494,,,,,external ear squamous cell carcinoma,MONDO:0003501,,,external ear squamous cell carcinoma,DOID:5538,, +BMGC_DS08692,BMG_DS034026,,UMLS ID:C1333499,,,,,extracranial neuroblastoma,MONDO:0002749,,,extracranial neuroblastoma,DOID:371,, +BMGC_DS08693,BMG_DS034027,,UMLS ID:C1333502,,,,,extragonadal seminoma,MONDO:0003668,,,extragonadal seminoma,DOID:5838,, +BMGC_DS08694,BMG_DS034028,,UMLS ID:C1333504,,,,,extrahepatic bile duct cystadenoma,MONDO:0004462,,,extrahepatic bile duct cystadenoma,DOID:8105,, +BMGC_DS08695,BMG_DS034029,,UMLS ID:C1333505,,,,,embryonal extrahepatic bile duct rhabdomyosarcoma,MONDO:0002576,,,embryonal extrahepatic bile duct rhabdomyosarcoma,DOID:3253,, +BMGC_DS08696,BMG_DS034031,,UMLS ID:C1333508,,,,,extrahepatic bile duct leiomyosarcoma,MONDO:0003377,,,extrahepatic bile duct leiomyosarcoma,DOID:5293,, +BMGC_DS08697,BMG_DS034032,,UMLS ID:C1333509,,,,,extrahepatic bile duct lipoma,MONDO:0000978,,,extrahepatic bile duct lipoma,DOID:10209,, +BMGC_DS08698,BMG_DS034033,,UMLS ID:C1333510,,,,,extrahepatic bile duct papillary adenoma,MONDO:0004250,,,extrahepatic bile duct papillary adenoma,DOID:7503,, +BMGC_DS08699,BMG_DS034034,,UMLS ID:C1333511,,,,,extrahepatic biliary papillomatosis,MONDO:0004353,,,extrahepatic biliary papillomatosis,DOID:7752,, +BMGC_DS08700,BMG_DS034035,,UMLS ID:C1333514,,,,,extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor,MONDO:0021039,,,extraosseous Ewing sarcoma,DOID:4232,, +BMGC_DS08701,BMG_DS034036,,UMLS ID:C1333590,,,,,fallopian tube adenocarcinoma,MONDO:0002746,,,fallopian tube adenocarcinoma,DOID:3706,, +BMGC_DS08702,BMG_DS034037,,UMLS ID:C1333591,,,,,fallopian tube clear cell adenocarcinoma,MONDO:0003383,,,fallopian tube clear cell adenocarcinoma,DOID:5301,, +BMGC_DS08703,BMG_DS034038,,UMLS ID:C1333592,,,,,fallopian tube endometrioid adenocarcinoma,MONDO:0003666,,,fallopian tube endometrioid adenocarcinoma,DOID:5831,, +BMGC_DS08704,BMG_DS034039,,UMLS ID:C1333593,,,,,fallopian tube gestational choriocarcinoma,MONDO:0004489,,,fallopian tube gestational choriocarcinoma,DOID:8186,, +BMGC_DS08705,BMG_DS034040,,UMLS ID:C1333595,,,,,fallopian tube papillary adenocarcinoma,MONDO:0003535,,,fallopian tube papillary adenocarcinoma,DOID:5597,, +BMGC_DS08706,BMG_DS034041,,UMLS ID:C1333596,,,,,fallopian tube squamous cell carcinoma,MONDO:0003503,,,fallopian tube squamous cell carcinoma,DOID:5540,, +BMGC_DS08707,BMG_DS034042,,UMLS ID:C1333597,,,,,cerebral falx meningioma,MONDO:0004422,,,cerebral falx meningioma,DOID:7986,, +BMGC_DS08708,BMG_DS034044,,UMLS ID:C1333616,,,,,fibrous synovial sarcoma,MONDO:0003465,,,fibrous synovial sarcoma,DOID:5484,, +BMGC_DS08709,BMG_DS034045,,UMLS ID:C1333620,,,,,flat ductal epithelial atypia,MONDO:0004008,,,flat ductal epithelial atypia,DOID:6841,, +BMGC_DS08710,BMG_DS034049,,UMLS ID:C1333630,,,,,foramen magnum meningioma,MONDO:0003109,,,foramen magnum meningioma,DOID:4708,, +BMGC_DS08711,BMG_DS034050,,UMLS ID:C1333643,,,,,frontal convexity meningioma,MONDO:0004426,,,frontal convexity meningioma,DOID:8000,, +BMGC_DS08712,BMG_DS034051,,UMLS ID:C1333644,,,,,frontal sinus inverted papilloma,MONDO:0004448,,,frontal sinus inverted papilloma,DOID:8060,, +BMGC_DS08713,BMG_DS034052,,UMLS ID:C1333645,,,,,frontal sinus Schneiderian papilloma,MONDO:0003752,,,frontal sinus Schneiderian papilloma,DOID:6054,, +BMGC_DS08714,BMG_DS034053,,UMLS ID:C1333646,,,,,frontal sinus squamous cell carcinoma,MONDO:0002301,,,frontal sinus squamous cell carcinoma,DOID:2441,, +BMGC_DS08715,BMG_DS034054,,UMLS ID:C1333741,,,,,gallbladder adenosquamous carcinoma,MONDO:0006217,,,adenosquamous gallbladder carcinoma,DOID:5627,, +BMGC_DS08716,BMG_DS034055,,UMLS ID:C1333742,,,,,gallbladder angiosarcoma,MONDO:0003026,,,gallbladder angiosarcoma,DOID:4513,, +BMGC_DS08717,BMG_DS034056,,UMLS ID:C1333744,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08718,BMG_DS034058,,UMLS ID:C1333746,,,,,gallbladder leiomyosarcoma,MONDO:0003364,,,gallbladder leiomyosarcoma,DOID:5275,, +BMGC_DS08719,BMG_DS034060,,UMLS ID:C1333748,,,,,gallbladder lymphoma,MONDO:0004474,,,gallbladder lymphoma,DOID:8135,, +BMGC_DS08720,BMG_DS034061,,UMLS ID:C1333749,,,,,gallbladder melanoma,MONDO:0004484,,,gallbladder melanoma,DOID:8167,, +BMGC_DS08721,BMG_DS034062,,UMLS ID:C1333750,,,,,gallbladder mucinous adenocarcinoma,MONDO:0004067,,,gallbladder mucinous carcinoma,DOID:6998,, +BMGC_DS08722,BMG_DS034063,,UMLS ID:C1333751,,,,,neurofibroma of gallbladder,MONDO:0003303,,,neurofibroma of gallbladder,DOID:5150,, +BMGC_DS08723,BMG_DS034066,,UMLS ID:C1333756,,,,,gallbladder rhabdomyosarcoma,MONDO:0002856,,,gallbladder rhabdomyosarcoma,DOID:4057,, +BMGC_DS08724,BMG_DS034067,,UMLS ID:C1333757,,,,,gallbladder sarcoma,MONDO:0002857,,,gallbladder sarcoma,DOID:4058,, +BMGC_DS08725,BMG_DS034068,,UMLS ID:C1333758,,,,,gallbladder signet ring cell adenocarcinoma,MONDO:0002667,,,gallbladder signet ring cell adenocarcinoma,DOID:3499,, +BMGC_DS08726,BMG_DS034069,,UMLS ID:C1333759,,,,,gallbladder small cell neuroendocrine carcinoma,MONDO:0006219,,,gallbladder small cell carcinoma,DOID:7133,, +BMGC_DS08727,BMG_DS034070,,UMLS ID:C1333760,,,,,gasserian ganglion meningioma,MONDO:0004313,,,Gasserian ganglion meningioma,DOID:7635,, +BMGC_DS08728,BMG_DS034071,,UMLS ID:C1333761,,,,,gastric adenosquamous carcinoma,MONDO:0006034,,,gastric adenosquamous carcinoma,DOID:5635,, +BMGC_DS08729,BMG_DS034072,,UMLS ID:C1333762,,,,,gastric cardia adenocarcinoma,MONDO:0003835,,,gastric cardia adenocarcinoma,DOID:6271,, +BMGC_DS08730,BMG_DS034073,,UMLS ID:C1333763,,,,,gastric cardia carcinoma,MONDO:0003834,,,gastric cardia carcinoma,DOID:6270,, +BMGC_DS08731,BMG_DS034074,,UMLS ID:C1333764,,,,,,,,,Cronkhite-Canada syndrome,DOID:6225,, +BMGC_DS08732,BMG_DS034075,,UMLS ID:C1333767,,,,,gastric gastrin-producing neuroendocrine tumor,MONDO:0003524,,,gastric gastrinoma,DOID:5579,, +BMGC_DS08733,BMG_DS034076,,UMLS ID:C1333769,,,,,,,,,malignant gastric germ cell tumor,DOID:4716,, +BMGC_DS08734,BMG_DS034078,,UMLS ID:C1333776,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08735,BMG_DS034080,,UMLS ID:C1333778,,,,,gastric liposarcoma,MONDO:0003592,,,gastric liposarcoma,DOID:5700,, +BMGC_DS08736,BMG_DS034083,,UMLS ID:C1333783,,,,,gastric neuroendocrine neoplasm,MONDO:0003111,,,gastric neuroendocrine neoplasm,DOID:4715,, +BMGC_DS08737,BMG_DS034085,,UMLS ID:C1333785,,,,,gastric papillary adenocarcinoma,MONDO:0006228,,,gastric papillary adenocarcinoma,DOID:5593,, +BMGC_DS08738,BMG_DS034086,,UMLS ID:C1333787,,,,,gastric pylorus carcinoma,MONDO:0003971,,,gastric pylorus carcinoma,DOID:6703,, +BMGC_DS08739,BMG_DS034087,,UMLS ID:C1333788,,,,,gastric small cell neuroendocrine carcinoma,MONDO:0006229,,,gastric small cell carcinoma,DOID:6552,, +BMGC_DS08740,BMG_DS034088,,UMLS ID:C1333789,,,,,gastric squamous cell carcinoma,MONDO:0006230,,,gastric squamous cell carcinoma,DOID:5516,, +BMGC_DS08741,BMG_DS034089,,UMLS ID:C1333790,,,,,gastric teratoma,MONDO:0003513,,,gastric teratoma,DOID:5561,, +BMGC_DS08742,BMG_DS034090,,UMLS ID:C1333791,,,,,gastric tubular adenocarcinoma,MONDO:0006035,,,gastric tubular adenocarcinoma,DOID:6595,, +BMGC_DS08743,BMG_DS034092,,UMLS ID:C1333799,,,,,digestive system neuroendocrine neoplasm,MONDO:0024503,,,gastrointestinal neuroendocrine benign tumor,DOID:4148,, +BMGC_DS08744,BMG_DS034093,,UMLS ID:C1333813,,,,,central nervous system germinoma,MONDO:0002999,,,central nervous system germinoma,DOID:4438,, +BMGC_DS08745,BMG_DS034094,,UMLS ID:C1333817,,,,,giant hemangioma,MONDO:0003643,,,giant hemangioma,DOID:5774,, +BMGC_DS08746,BMG_DS034095,,UMLS ID:C1333821,,,,,malignant glandular tumor of peripheral nerve sheath,MONDO:0004559,,,malignant glandular tumor of peripheral nerve sheath,DOID:8420,, +BMGC_DS08747,BMG_DS034096,,UMLS ID:C1333824,,,,,glomangiomatosis,MONDO:0004035,,,glomangiomatosis,DOID:6906,, +BMGC_DS08748,BMG_DS034097,,UMLS ID:C1333871,,,,,granular cell leiomyosarcoma,MONDO:0003350,,,granular cell leiomyosarcoma,DOID:5258,, +BMGC_DS08749,BMG_DS034098,,UMLS ID:C1333873,,,,,neurohypophysis granular cell tumor,MONDO:0003256,,,granular cell tumor of the sellar region,DOID:5047,, +BMGC_DS08750,BMG_DS034099,,UMLS ID:C1333876,,,,,granulomatous endometritis,MONDO:0003052,,,granulomatous endometritis,DOID:4561,, +BMGC_DS08751,BMG_DS034100,,UMLS ID:C1333878,,,,,"B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma",MONDO:0003658,,,gray zone lymphoma,DOID:5822,, +BMGC_DS08752,BMG_DS034105,,UMLS ID:C1333962,,,,,hepatic angiomyolipoma,MONDO:0002605,,,hepatic angiomyolipoma,DOID:3317,, +BMGC_DS08753,BMG_DS034106,,UMLS ID:C1333965,,,,,liver solitary fibrous tumor,MONDO:0004705,,,liver fibroma,DOID:907,, +BMGC_DS08754,BMG_DS034107,,UMLS ID:C1333966,,,,,liver fibrosarcoma,MONDO:0004435,,,liver fibrosarcoma,DOID:8022,, +BMGC_DS08755,BMG_DS034108,,UMLS ID:C1333967,,,,,liver inflammatory myofibroblastic tumor,MONDO:0004726,,,liver inflammatory pseudotumor,DOID:918,, +BMGC_DS08756,BMG_DS034109,,UMLS ID:C1333968,,,,,liver leiomyoma,MONDO:0004723,,,liver leiomyoma,DOID:917,, +BMGC_DS08757,BMG_DS034110,,UMLS ID:C1333969,,,,,liver leiomyosarcoma,MONDO:0003378,,,liver leiomyosarcoma,DOID:5296,, +BMGC_DS08758,BMG_DS034111,,UMLS ID:C1333970,,,,,liver lipoma,MONDO:0000965,,,liver lipoma,DOID:10190,, +BMGC_DS08759,BMG_DS034113,,UMLS ID:C1333974,,,,,liver extraskeletal osteosarcoma,MONDO:0003866,,,hepatic osteogenic sarcoma,DOID:6370,, +BMGC_DS08760,BMG_DS034114,,UMLS ID:C1333975,,,,,liver rhabdomyosarcoma,MONDO:0002849,,,liver rhabdomyosarcoma,DOID:4047,, +BMGC_DS08761,BMG_DS034115,,UMLS ID:C1333976,,,,,liver and intrahepatic bile duct neoplasm,MONDO:0024477,,,liver benign neoplasm,DOID:916,, +BMGC_DS08762,BMG_DS034116,,UMLS ID:C1333984,,,,,hepatosplenic T-cell lymphoma,MONDO:0019474,,,,,, +BMGC_DS08763,BMG_DS034117,,UMLS ID:C1333985,,,,,hereditary clear cell renal cell carcinoma,MONDO:0018492,,,hereditary conventional renal cell carcinoma,DOID:7192,, +BMGC_DS08764,BMG_DS034118,,UMLS ID:C1333987,,,,,,,,,familial glomangioma,DOID:7996,, +BMGC_DS08765,BMG_DS034119,,UMLS ID:C1333989,,,,,,,,,familial meningioma,DOID:4586,, +BMGC_DS08766,BMG_DS034120,,UMLS ID:C1333990,,,,,hereditary nonpolyposis colon cancer,MONDO:0018630,,,,,, +BMGC_DS08767,BMG_DS034121,,UMLS ID:C1333991,,,,,Lynch syndrome 2,MONDO:0012249,,,,,,OMIM ID:609310 +BMGC_DS08768,BMG_DS034122,,UMLS ID:C1333992,,,,,familial ovarian carcinoma,MONDO:0100514,,,familiar ovarian carcinoma,DOID:6901,, +BMGC_DS08769,BMG_DS034123,,UMLS ID:C1333996,,,,,herpetic gastritis,MONDO:0003769,,,herpetic gastritis,DOID:6102,, +BMGC_DS08770,BMG_DS034126,,UMLS ID:C1334030,,,,,histiocytic and dendritic cell neoplasm,MONDO:0006247,,,histiocytic and dendritic cell cancer,DOID:5621,, +BMGC_DS08771,BMG_DS034129,,UMLS ID:C1334067,,,,,hypercalcemic sarcoidosis,MONDO:0001709,,,hypercalcemic sarcoidosis,DOID:13407,, +BMGC_DS08772,BMG_DS034130,,UMLS ID:C1334069,,,,,hyperimmunoglobulin syndrome,MONDO:0002468,,,hyperimmunoglobulin syndrome,DOID:2959,, +BMGC_DS08773,BMG_DS034132,,UMLS ID:C1334150,,,,,idiopathic granulomatous myositis,MONDO:0002644,,,granulomatous myositis,DOID:3428,, +BMGC_DS08774,BMG_DS034133,,UMLS ID:C1334151,,,,,immature gastric teratoma,MONDO:0004048,,,malignant gastric teratoma,DOID:6948,, +BMGC_DS08775,BMG_DS034136,,UMLS ID:C1334179,,,,,inflammatory leiomyosarcoma,MONDO:0003347,,,inflammatory leiomyosarcoma,DOID:5251,, +BMGC_DS08776,BMG_DS034137,,UMLS ID:C1334180,,,,,"undifferentiated pleomorphic sarcoma, inflammatory variant",MONDO:0006480,,,malignant inflammatory fibrous histiocytoma,DOID:6192,, +BMGC_DS08777,BMG_DS034138,,UMLS ID:C1334208,,,,,intermediate cell type choroid melanoma,MONDO:0004065,,,intermediate cell type choroid melanoma,DOID:6996,, +BMGC_DS08778,BMG_DS034139,,UMLS ID:C1334209,,,,,intermediate cell type ciliary body melanoma,MONDO:0004066,,,intermediate cell type ciliary body melanoma,DOID:6997,, +BMGC_DS08779,BMG_DS034140,,UMLS ID:C1334210,,,,,intermediate cell type iris melanoma,MONDO:0004063,,,iris mixed cell melanoma,DOID:6993,, +BMGC_DS08780,BMG_DS034142,,UMLS ID:C1334227,,,,,internal auditory canal meningioma,MONDO:0003722,,,internal auditory canal meningioma,DOID:5990,, +BMGC_DS08781,BMG_DS034143,,UMLS ID:C1334231,,,,,intestinal neuroendocrine neoplasm,MONDO:0002883,,,intestinal neuroendocrine benign tumor,DOID:4119,, +BMGC_DS08782,BMG_DS034144,,UMLS ID:C1334236,,,,,intracerebral cystic meningioma,MONDO:0003773,,,intracerebral cystic meningioma,DOID:6113,, +BMGC_DS08783,BMG_DS034145,,UMLS ID:C1334237,,,,,intracranial cavernous angioma,MONDO:0002327,,,intracranial cavernous angioma,DOID:2516,, +BMGC_DS08784,BMG_DS034146,,UMLS ID:C1334238,,,,,intracranial extraskeletal myxoid chondrosarcoma,MONDO:0004392,,,intracranial chondrosarcoma,DOID:7903,, +BMGC_DS08785,BMG_DS034147,,UMLS ID:C1334242,,,,,intracranial liposarcoma,MONDO:0003602,,,intracranial liposarcoma,DOID:5714,, +BMGC_DS08786,BMG_DS034151,,UMLS ID:C1334252,,,,,intraductal papillary breast neoplasm,MONDO:0002061,,,intraductal papillary breast neoplasm,DOID:1628,, +BMGC_DS08787,BMG_DS034152,,UMLS ID:C1334254,,,,,cauda equina intradural extramedullary astrocytoma,MONDO:0003163,,,cauda equina intradural extramedullary astrocytoma,DOID:4846,, +BMGC_DS08788,BMG_DS034153,,UMLS ID:C1334255,,,,,intradural extramedullary spinal canal neoplasm,MONDO:0003545,,,spinal canal intradural extramedullary neoplasm,DOID:5615,, +BMGC_DS08789,BMG_DS034154,,UMLS ID:C1334257,,,,,intrahepatic bile duct cystadenoma,MONDO:0003979,,,intrahepatic bile duct cystadenoma,DOID:6733,, +BMGC_DS08790,BMG_DS034155,,UMLS ID:C1334258,,,,,intrahepatic biliary papillomatosis,MONDO:0004509,,,intrahepatic biliary papillomatosis,DOID:8230,, +BMGC_DS08791,BMG_DS034156,,UMLS ID:C1334259,,,,,spinal cord intramedullary teratoma,MONDO:0002717,,,spinal cord intramedullary teratoma,DOID:3639,, +BMGC_DS08792,BMG_DS034157,,UMLS ID:C1334261,,,,,intraorbital meningioma,MONDO:0002888,,,intraorbital meningioma,DOID:4141,, +BMGC_DS08793,BMG_DS034158,,UMLS ID:C1334264,,,,,intraspinal meningioma,MONDO:0001279,,,spinal canal and spinal cord meningioma,DOID:1140,, +BMGC_DS08794,BMG_DS034159,,UMLS ID:C1334267,,,,,intravascular angioleiomyoma,MONDO:0002934,,,intravascular angioleiomyoma,DOID:4266,, +BMGC_DS08795,BMG_DS034160,,UMLS ID:C1334271,,,,,intraventricular meningioma,MONDO:0002772,,,intraventricular meningioma,DOID:3772,, +BMGC_DS08796,BMG_DS034163,,UMLS ID:C1334281,,,,,infiltrating bladder urothelial carcinoma,MONDO:0003890,,,invasive bladder transitional cell carcinoma,DOID:6477,, +BMGC_DS08797,BMG_DS034164,,UMLS ID:C1334282,,,,,inverted urothelial papilloma,MONDO:0021109,,,urinary tract papillary transitional cell benign neoplasm,DOID:5433,, +BMGC_DS08798,BMG_DS034165,,UMLS ID:C1334287,,,,,iris spindle cell melanoma,MONDO:0004188,,,iris spindle cell melanoma,DOID:7328,, +BMGC_DS08799,BMG_DS034167,,UMLS ID:C1334297,,,,,jejunal somatostatinoma,MONDO:0002563,,,jejunal somatostatinoma,DOID:3216,, +BMGC_DS08800,BMG_DS034168,,UMLS ID:C1334298,,,,,jugular foramen meningioma,MONDO:0003771,,,jugular foramen meningioma,DOID:6110,, +BMGC_DS08801,BMG_DS034169,,UMLS ID:C1334300,,,,,schwannoma of jugular foramen,MONDO:0003980,,,schwannoma of jugular foramen,DOID:6735,, +BMGC_DS08802,BMG_DS034171,,UMLS ID:C1334318,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08803,BMG_DS034172,,UMLS ID:C1334323,,,,,,,,,kidney benign neoplasm,DOID:3116,, +BMGC_DS08804,BMG_DS034173,,UMLS ID:C1334356,,,,,labia majora carcinoma,MONDO:0001702,,,labia majora carcinoma,DOID:13389,, +BMGC_DS08805,BMG_DS034174,,UMLS ID:C1334357,,,,,labia minora carcinoma,MONDO:0001602,,,labia minora carcinoma,DOID:1293,, +BMGC_DS08806,BMG_DS034175,,UMLS ID:C1334358,,,,,lacrimal gland carcinoma,MONDO:0002463,,,lacrimal gland carcinoma,DOID:293,, +BMGC_DS08807,BMG_DS034176,,UMLS ID:C1334359,,,,,lacrimal gland mucoepidermoid carcinoma,MONDO:0003092,,,lacrimal gland mucoepidermoid carcinoma,DOID:4685,, +BMGC_DS08808,BMG_DS034178,,UMLS ID:C1334361,,,,,lacrimal system cancer,MONDO:0002460,,,lacrimal system cancer,DOID:292,, +BMGC_DS08809,BMG_DS034179,,UMLS ID:C1334362,,,,,large cell acanthoma,MONDO:0002961,,,large cell acanthoma,DOID:4321,, +BMGC_DS08810,BMG_DS034180,,UMLS ID:C1334363,,,,,pulmonary large cell neuroendocrine carcinoma,MONDO:0003960,,,pulmonary large cell neuroendocrine carcinoma,DOID:6658,, +BMGC_DS08811,BMG_DS034181,,UMLS ID:C1334364,,,,,thymic large cell neuroendocrine carcinoma,MONDO:0003047,,,thymus large cell carcinoma,DOID:4553,, +BMGC_DS08812,BMG_DS034182,,UMLS ID:C1334368,,,,,laryngeal adenoid cystic carcinoma,MONDO:0006264,,,laryngeal adenoid cystic carcinoma,DOID:4869,, +BMGC_DS08813,BMG_DS034183,,UMLS ID:C1334370,,,,,laryngeal leiomyoma,MONDO:0000934,,,larynx leiomyoma,DOID:10070,, +BMGC_DS08814,BMG_DS034184,,UMLS ID:C1334371,,,,,laryngeal leiomyosarcoma,MONDO:0003374,,,larynx leiomyosarcoma,DOID:5288,, +BMGC_DS08815,BMG_DS034185,,UMLS ID:C1334372,,,,,larynx liposarcoma,MONDO:0003588,,,larynx liposarcoma,DOID:5696,, +BMGC_DS08816,BMG_DS034186,,UMLS ID:C1334373,,,,,laryngeal mucoepidermoid carcinoma,MONDO:0003095,,,laryngeal mucoepidermoid carcinoma,DOID:4688,, +BMGC_DS08817,BMG_DS034187,,UMLS ID:C1334374,,,,,laryngeal neuroendocrine neoplasm,MONDO:0015070,,,laryngeal neuroendocrine tumor,DOID:5457,, +BMGC_DS08818,BMG_DS034188,,UMLS ID:C1334377,,,,,laryngeal sarcoma,MONDO:0002448,,,larynx sarcoma,DOID:2877,, +BMGC_DS08819,BMG_DS034189,,UMLS ID:C1334378,,,,,laryngeal small cell carcinoma,MONDO:0006265,,,laryngeal small cell carcinoma,DOID:7144,, +BMGC_DS08820,BMG_DS034190,,UMLS ID:C1334380,,,,,lateral ventricle meningioma,MONDO:0003775,,,lateral ventricle meningioma,DOID:6115,, +BMGC_DS08821,BMG_DS034193,,UMLS ID:C1334386,,,,,leptomeningeal melanoma,MONDO:0003761,,,meningeal melanoma,DOID:6085,, +BMGC_DS08822,BMG_DS034194,,UMLS ID:C1334406,,,,,,,,,Ewing sarcoma of bone,DOID:3368,, +BMGC_DS08823,BMG_DS034195,,UMLS ID:C1334408,,,,,,,,,Ewing sarcoma,DOID:3369,, +BMGC_DS08824,BMG_DS034196,,UMLS ID:C1334410,,,,,,,,,medulloblastoma,DOID:0050902,, +BMGC_DS08825,BMG_DS034198,,UMLS ID:C1334434,,,,,lower clivus meningioma,MONDO:0004511,,,lower clivus meningioma,DOID:8239,, +BMGC_DS08826,BMG_DS034199,,UMLS ID:C1334436,,,,,lumbar spinal canal and spinal cord meningioma,MONDO:0004256,,,lumbar spinal canal and spinal cord meningioma,DOID:7515,, +BMGC_DS08827,BMG_DS034200,,UMLS ID:C1334437,,,,,lumbar plexus neoplasm,MONDO:0004546,,,lumbar plexus neoplasm,DOID:8389,, +BMGC_DS08828,BMG_DS034202,,UMLS ID:C1334439,,,,,lung adenoid cystic carcinoma,MONDO:0003181,,,lung adenoid cystic carcinoma,DOID:4872,, +BMGC_DS08829,BMG_DS034204,,UMLS ID:C1334445,,,,,lung hilum carcinoma,MONDO:0004499,,,hilar lung carcinoma,DOID:8207,, +BMGC_DS08830,BMG_DS034205,,UMLS ID:C1334447,,,,,lung leiomyoma,MONDO:0003293,,,lung leiomyoma,DOID:5136,, +BMGC_DS08831,BMG_DS034206,,UMLS ID:C1334448,,,,,lung leiomyosarcoma,MONDO:0003357,,,lung leiomyosarcoma,DOID:5265,, +BMGC_DS08832,BMG_DS034207,,UMLS ID:C1334450,,,,,lung meningioma,MONDO:0003638,,,lung meningioma,DOID:5764,, +BMGC_DS08833,BMG_DS034208,,UMLS ID:C1334452,,,,,lung neuroendocrine neoplasm,MONDO:0005454,,,pulmonary neuroendocrine tumor,DOID:5410,, +BMGC_DS08834,BMG_DS034210,,UMLS ID:C1334455,,,,,,,,,pulmonary sclerosing hemangioma,DOID:5766,, +BMGC_DS08835,BMG_DS034211,,UMLS ID:C1334457,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS08836,BMG_DS034212,,UMLS ID:C1334464,,,,,lymphohistiocytoid mesothelioma,MONDO:0004205,,,lymphohistiocytoid mesothelioma,DOID:7381,, +BMGC_DS08837,BMG_DS034213,,UMLS ID:C1334543,,,,,macrotrabecular hepatoblastoma,MONDO:0003651,,,macrotrabecular hepatoblastoma,DOID:5798,, +BMGC_DS08838,BMG_DS034218,,UMLS ID:C1334556,,,,,ACTH-producing pituitary gland carcinoma,MONDO:0006069,,,malignant ACTH producing neoplasm of pituitary gland,DOID:6276,, +BMGC_DS08839,BMG_DS034219,,UMLS ID:C1334557,,,,,,,,,brain cancer,DOID:1319,, +BMGC_DS08840,BMG_DS034220,,UMLS ID:C1334558,,,,,adult intracranial malignant hemangiopericytoma,MONDO:0003857,,,adult intracranial malignant hemangiopericytoma,DOID:6333,, +BMGC_DS08841,BMG_DS034221,,UMLS ID:C1334560,,,,,aortic malignant tumor,MONDO:0004539,,,aortic malignant tumor,DOID:8352,, +BMGC_DS08842,BMG_DS034222,,UMLS ID:C1334561,,,,,apocrine sweat gland cancer,MONDO:0003215,,,apocrine sweat gland cancer,DOID:4934,, +BMGC_DS08843,BMG_DS034223,,UMLS ID:C1334564,,,,,,,,,breast adenomyoepithelioma,DOID:1642,, +BMGC_DS08844,BMG_DS034224,,UMLS ID:C1334565,,,,,breast malignant eccrine spiradenoma,MONDO:0004420,,,breast malignant eccrine spiradenoma,DOID:7983,, +BMGC_DS08845,BMG_DS034225,,UMLS ID:C1334566,,,,,malignant cardiac germ cell tumor,MONDO:0001991,,,malignant cardiac germ cell tumor,DOID:14535,, +BMGC_DS08846,BMG_DS034226,,UMLS ID:C1334567,,,,,heart malignant hemangiopericytoma,MONDO:0003743,,,heart malignant hemangiopericytoma,DOID:6034,, +BMGC_DS08847,BMG_DS034227,,UMLS ID:C1334569,,,,,malignant cardiac peripheral nerve sheath neoplasm,MONDO:0001990,,,malignant cardiac peripheral nerve sheath neoplasm,DOID:14534,, +BMGC_DS08848,BMG_DS034229,,UMLS ID:C1334572,,,,,chest wall bone cancer,MONDO:0003933,,,chest wall bone cancer,DOID:6579,, +BMGC_DS08849,BMG_DS034230,,UMLS ID:C1334574,,,,,malignant childhood germ cell neoplasm,MONDO:0004479,,,malignant childhood germ cell neoplasm,DOID:8149,, +BMGC_DS08850,BMG_DS034231,,UMLS ID:C1334575,,,,,malignant cutaneous granular cell skin tumor,MONDO:0004314,,,malignant granular cell skin tumor,DOID:7639,, +BMGC_DS08851,BMG_DS034232,,UMLS ID:C1334576,,,,,diencephalic cancer,MONDO:0002786,,,diencephalic neoplasm,DOID:3843,, +BMGC_DS08852,BMG_DS034233,,UMLS ID:C1334577,,,,,eccrine sweat gland cancer,MONDO:0005506,,,eccrine sweat gland cancer,DOID:4921,, +BMGC_DS08853,BMG_DS034234,,UMLS ID:C1334581,,,,,extragonadal germ cell cancer,MONDO:0003113,,,extragonadal germ cell cancer,DOID:4717,, +BMGC_DS08854,BMG_DS034235,,UMLS ID:C1334582,,,,,extragonadal nonseminomatous germ cell tumor,MONDO:0003578,,,malignant extragonadal nonseminomatous germ cell tumor,DOID:5677,, +BMGC_DS08855,BMG_DS034237,,UMLS ID:C1334585,,,,,malignant gastric granular cell tumor,MONDO:0001057,,,malignant gastric granular cell tumor,DOID:10536,, +BMGC_DS08856,BMG_DS034238,,UMLS ID:C1334587,,,,,growth hormone-producing pituitary gland carcinoma,MONDO:0003828,,,malignant growth hormone secreting neoplasm of pituitary,DOID:6256,, +BMGC_DS08857,BMG_DS034239,,UMLS ID:C1334596,,,,,malignant leptomeningeal tumor,MONDO:0003762,,,malignant leptomeningeal neoplasm,DOID:6086,, +BMGC_DS08858,BMG_DS034241,,UMLS ID:C1334598,,,,,malignant mediastinum hemangiopericytoma,MONDO:0003809,,,malignant mediastinum hemangiopericytoma,DOID:6209,, +BMGC_DS08859,BMG_DS034243,,UMLS ID:C1334600,,,,,malignant melanocytic peripheral nerve sheath tumor of mediastinum,MONDO:0004098,,,malignant melanocytic peripheral nerve sheath tumor of mediastinum,DOID:7077,, +BMGC_DS08860,BMG_DS034244,,UMLS ID:C1334602,,,,,malignant mixed epithelial stromal tumor of the kidney,MONDO:0024711,,,mixed epithelial stromal tumour,DOID:5088,, +BMGC_DS08861,BMG_DS034245,,UMLS ID:C1334603,,,,,,,,,carcinosarcoma,DOID:4236,, +BMGC_DS08862,BMG_DS034247,,UMLS ID:C1334611,,,,,,,,,perivascular tumor,DOID:3316,, +BMGC_DS08863,BMG_DS034248,,UMLS ID:C1334612,,,,,malignant pineal area germ cell neoplasm,MONDO:0002073,,,malignant pineal area germ cell neoplasm,DOID:1660,, +BMGC_DS08864,BMG_DS034249,,UMLS ID:C1334614,,,,,prolactin-producing pituitary gland carcinoma,MONDO:0006388,,,prolactin producing pituitary tumor,DOID:5396,, +BMGC_DS08865,BMG_DS034250,,UMLS ID:C1334615,,,,,malignant prostate phyllodes tumor,MONDO:0000994,,,prostate malignant phyllodes tumor,DOID:10289,, +BMGC_DS08866,BMG_DS034251,,UMLS ID:C1334616,,,,,,,,,vascular cancer,DOID:175,, +BMGC_DS08867,BMG_DS034252,,UMLS ID:C1334617,,,,,,,,,vascular cancer,DOID:175,, +BMGC_DS08868,BMG_DS034254,,UMLS ID:C1334619,,,,,skeletal muscle cancer,MONDO:0002847,,,skeletal muscle cancer,DOID:4043,, +BMGC_DS08869,BMG_DS034255,,UMLS ID:C1334620,,,,,smooth muscle cancer,MONDO:0002924,,,smooth muscle cancer,DOID:4230,, +BMGC_DS08870,BMG_DS034256,,UMLS ID:C1334624,,,,,synovium cancer,MONDO:0002403,,,synovium cancer,DOID:2706,, +BMGC_DS08871,BMG_DS034257,,UMLS ID:C1334625,,,,,testicular non-seminomatous germ cell cancer,MONDO:0003403,,,testicular non-seminomatous germ cell cancer,DOID:5345,, +BMGC_DS08872,BMG_DS034258,,UMLS ID:C1334627,,,,,malignant thyroid stimulating hormone producing neoplasm of pituitary gland,MONDO:0003836,,,malignant thyroid stimulating hormone producing neoplasm of pituitary gland,DOID:6274,, +BMGC_DS08873,BMG_DS034259,,UMLS ID:C1334628,,,,,uterine body mixed cancer,MONDO:0002879,,,uterine body mixed cancer,DOID:4114,, +BMGC_DS08874,BMG_DS034260,,UMLS ID:C1334630,,,,,,,,,vascular cancer,DOID:175,, +BMGC_DS08875,BMG_DS034261,,UMLS ID:C1334631,,,,,breast intraductal proliferative lesion,MONDO:0004007,,,breast intraductal proliferative lesion,DOID:6839,, +BMGC_DS08876,BMG_DS034262,,UMLS ID:C1334633,,,,,neoplasm of mature B-cells,MONDO:0004949,,,mature B-cell neoplasm,DOID:706,, +BMGC_DS08877,BMG_DS034263,,UMLS ID:C1334635,,,,,mature gastric teratoma,MONDO:0004467,,,mature gastric teratoma,DOID:8118,, +BMGC_DS08878,BMG_DS034264,,UMLS ID:C1334637,,,,,mature ovarian teratoma,MONDO:0003820,,,mature teratoma of the ovary,DOID:6231,, +BMGC_DS08879,BMG_DS034267,,UMLS ID:C1334642,,,,,maxillary sinus adenocarcinoma,MONDO:0004328,,,maxillary sinus adenocarcinoma,DOID:7684,, +BMGC_DS08880,BMG_DS034268,,UMLS ID:C1334643,,,,,maxillary sinus adenoid cystic carcinoma,MONDO:0006297,,,maxillary sinus adenoid cystic carcinoma,DOID:7198,, +BMGC_DS08881,BMG_DS034269,,UMLS ID:C1334644,,,,,maxillary sinus cholesteatoma,MONDO:0006577,,,maxillary sinus cholesteatoma,DOID:867,, +BMGC_DS08882,BMG_DS034270,,UMLS ID:C1334645,,,,,maxillary sinus inverted papilloma,MONDO:0004384,,,maxillary sinus inverted papilloma,DOID:7868,, +BMGC_DS08883,BMG_DS034271,,UMLS ID:C1334646,,,,,maxillary sinus Schneiderian papilloma,MONDO:0004457,,,maxillary sinus Schneiderian papilloma,DOID:8093,, +BMGC_DS08884,BMG_DS034272,,UMLS ID:C1334647,,,,,maxillary sinus squamous cell carcinoma,MONDO:0004394,,,maxillary sinus squamous cell carcinoma,DOID:7910,, +BMGC_DS08885,BMG_DS034273,,UMLS ID:C1334649,,,,,mediastinum angiosarcoma,MONDO:0003034,,,mediastinum angiosarcoma,DOID:4525,, +BMGC_DS08886,BMG_DS034274,,UMLS ID:C1334653,,,,,mediastinum ganglioneuroblastoma,MONDO:0001096,,,mediastinum ganglioneuroblastoma,DOID:10661,, +BMGC_DS08887,BMG_DS034275,,UMLS ID:C1334655,,,,,mediastinal germ cell tumor,MONDO:0021067,,,,,, +BMGC_DS08888,BMG_DS034276,,UMLS ID:C1334656,,,,,mediastinal granular cell myoblastoma,MONDO:0003255,,,mediastinal granular cell myoblastoma,DOID:5046,, +BMGC_DS08889,BMG_DS034277,,UMLS ID:C1334657,,,,,mediastinal gray zone lymphoma,MONDO:0004020,,,mediastinal gray zone lymphoma,DOID:6867,, +BMGC_DS08890,BMG_DS034279,,UMLS ID:C1334660,,,,,mediastinum leiomyosarcoma,MONDO:0003376,,,mediastinum leiomyosarcoma,DOID:5292,, +BMGC_DS08891,BMG_DS034280,,UMLS ID:C1334662,,,,,mediastinal lipomatosis,MONDO:0006578,,,mediastinal lipomatosis,DOID:3926,, +BMGC_DS08892,BMG_DS034281,,UMLS ID:C1334663,,,,,mediastinum liposarcoma,MONDO:0003601,,,mediastinum liposarcoma,DOID:5713,, +BMGC_DS08893,BMG_DS034282,,UMLS ID:C1334665,,,,,mediastinal malignant lymphoma,MONDO:0004021,,,mediastinal malignant lymphoma,DOID:6868,, +BMGC_DS08894,BMG_DS034283,,UMLS ID:C1334668,,,,,mediastinal melanocytic neurilemmoma,MONDO:0003894,,,mediastinal melanocytic neurilemmoma,DOID:6484,, +BMGC_DS08895,BMG_DS034284,,UMLS ID:C1334669,,,,,mediastinal mesenchymal tumor,MONDO:0003512,,,mediastinal mesenchymal tumor,DOID:5560,, +BMGC_DS08896,BMG_DS034285,,UMLS ID:C1334672,,,,,mediastinal neural neoplasm,MONDO:0003098,,,malignant mediastinal neurogenic neoplasm,DOID:4691,, +BMGC_DS08897,BMG_DS034286,,UMLS ID:C1334673,,,,,mediastinum neuroblastoma,MONDO:0001095,,,mediastinum neuroblastoma,DOID:10660,, +BMGC_DS08898,BMG_DS034287,,UMLS ID:C1334674,,,,,mediastinum neurofibroma,MONDO:0001426,,,mediastinum neurofibroma,DOID:12064,, +BMGC_DS08899,BMG_DS034288,,UMLS ID:C1334675,,,,,mediastinal extraskeletal osteosarcoma,MONDO:0003808,,,mediastinal osteogenic sarcoma,DOID:6208,, +BMGC_DS08900,BMG_DS034289,,UMLS ID:C1334677,,,,,mediastinum rhabdomyosarcoma,MONDO:0002851,,,mediastinum rhabdomyosarcoma,DOID:4049,, +BMGC_DS08901,BMG_DS034290,,UMLS ID:C1334678,,,,,mediastinum sarcoma,MONDO:0002852,,,mediastinum sarcoma,DOID:4050,, +BMGC_DS08902,BMG_DS034291,,UMLS ID:C1334679,,,,,mediastinal schwannoma,MONDO:0004398,,,mediastinal neurilemmoma,DOID:6175,, +BMGC_DS08903,BMG_DS034292,,UMLS ID:C1334680,,,,,mediastinum seminoma,MONDO:0003826,,,mediastinum seminoma,DOID:6249,, +BMGC_DS08904,BMG_DS034293,,UMLS ID:C1334681,,,,,mediastinum synovial sarcoma,MONDO:0003467,,,mediastinum synovial sarcoma,DOID:5488,, +BMGC_DS08905,BMG_DS034294,,UMLS ID:C1334682,,,,,mediastinum teratoma,MONDO:0003518,,,mediastinum teratoma,DOID:5568,, +BMGC_DS08906,BMG_DS034296,,UMLS ID:C1334691,,,,,melanomatosis,MONDO:0004141,,,melanomatosis,DOID:7206,, +BMGC_DS08907,BMG_DS034297,,UMLS ID:C1334698,,,,,,,,,meningioma | supratentorial meningioma,DOID:3565;DOID:0080843,, +BMGC_DS08908,BMG_DS034298,,UMLS ID:C1334699,,,,,mesenchymal cell neoplasm,MONDO:0002616,,,mesenchymal cell neoplasm,DOID:3350,, +BMGC_DS08909,BMG_DS034299,,UMLS ID:C1334704,,,,,metachronous osteosarcoma of the bone,MONDO:0002632,,,metachronous osteosarcoma of the bone,DOID:3379,, +BMGC_DS08910,BMG_DS034300,,UMLS ID:C1334705,,,,,metachronous kidney Wilms' tumor,MONDO:0003317,,,metachronous kidney Wilms' tumor,DOID:5178,, +BMGC_DS08911,BMG_DS034301,,UMLS ID:C1334708,,,,,metaplastic breast carcinoma,MONDO:0006043,,,breast metaplastic carcinoma,DOID:4680,, +BMGC_DS08912,BMG_DS034302,,UMLS ID:C1334717,,,,,metastatic carcinoma in the adrenal medulla,MONDO:0024868,,,adrenal medulla carcinoma,DOID:7379,, +BMGC_DS08913,BMG_DS034303,,UMLS ID:C1334749,,,,,methotrexate-associated lymphoproliferative disorders,MONDO:0019483,,,methotrexate-associated lymphoproliferation,DOID:5821,, +BMGC_DS08914,BMG_DS034304,,UMLS ID:C1334753,,,,,microglandular adenosis of breast,MONDO:0004534,,,microglandular adenosis of breast,DOID:8335,, +BMGC_DS08915,BMG_DS034305,,UMLS ID:C1334757,,,,,middle cranial fossa meningioma,MONDO:0003121,,,middle cranial fossa meningioma,DOID:4749,, +BMGC_DS08916,BMG_DS034306,,UMLS ID:C1334758,,,,,middle ear adenocarcinoma,MONDO:0003189,,,middle ear adenocarcinoma,DOID:4892,, +BMGC_DS08917,BMG_DS034308,,UMLS ID:C1334760,,,,,middle ear carcinoma,MONDO:0003190,,,middle ear carcinoma,DOID:4893,, +BMGC_DS08918,BMG_DS034309,,UMLS ID:C1334762,,,,,middle ear squamous cell carcinoma,MONDO:0006303,,,middle ear squamous cell carcinoma,DOID:5526,, +BMGC_DS08919,BMG_DS034313,,UMLS ID:C1334782,,,,,mixed cell uveal melanoma,MONDO:0003910,,,mixed cell uveal melanoma,DOID:6522,, +BMGC_DS08920,BMG_DS034314,,UMLS ID:C1334784,,,,,mixed hepatoblastoma,MONDO:0003650,,,mixed hepatoblastoma,DOID:5789,, +BMGC_DS08921,BMG_DS034316,,UMLS ID:C1334788,,,,,lung mixed small cell and squamous cell carcinoma,MONDO:0004100,,,lung mixed small cell and squamous cell carcinoma,DOID:7081,, +BMGC_DS08922,BMG_DS034317,,UMLS ID:C1334801,,,,,monophasic synovial sarcoma,MONDO:0005067,,,monophasic synovial sarcoma,DOID:5495,, +BMGC_DS08923,BMG_DS034318,,UMLS ID:C1334807,,,,,breast mucinous carcinoma,MONDO:0002707,,,breast mucinous carcinoma,DOID:3610,, +BMGC_DS08924,BMG_DS034319,,UMLS ID:C1334809,,,,,mucinous gastric adenocarcinoma,MONDO:0006309,,,mucinous stomach adenocarcinoma,DOID:3716,, +BMGC_DS08925,BMG_DS034321,,UMLS ID:C1334813,,,,,mucoepidermoid breast carcinoma,MONDO:0003087,,,breast mucoepidermoid carcinoma,DOID:4679,, +BMGC_DS08926,BMG_DS034322,,UMLS ID:C1334814,,,,,thymic mucoepidermoid carcinoma,MONDO:0003086,,,thymus mucoepidermoid carcinoma,DOID:4678,, +BMGC_DS08927,BMG_DS034323,,UMLS ID:C1334815,,,,,multicentric Castleman disease,MONDO:0019754,,,multicentric Castleman disease,DOID:0111152,, +BMGC_DS08928,BMG_DS034324,,UMLS ID:C1334817,,,,,multicentric papillary thyroid carcinoma,MONDO:0004101,,,multicentric papillary thyroid carcinoma,DOID:7086,, +BMGC_DS08929,BMG_DS034326,,UMLS ID:C1334820,,,,,multifocal osteogenic sarcoma,MONDO:0002622,,,multifocal osteogenic sarcoma,DOID:3360,, +BMGC_DS08930,BMG_DS034327,,UMLS ID:C1334825,,,,,multiple spinal canal and spinal cord meningioma,MONDO:0004317,,,multiple spinal canal and spinal cord meningioma,DOID:7646,, +BMGC_DS08931,BMG_DS034328,,UMLS ID:C1334828,,,,,multiple mucosal neuroma,MONDO:0003307,,,multiple mucosal neuroma,DOID:5155,, +BMGC_DS08932,BMG_DS034329,,UMLS ID:C1334829,,,,,multiple skull base meningioma,MONDO:0004094,,,multiple skull base meningioma,DOID:7054,, +BMGC_DS08933,BMG_DS034330,,UMLS ID:C1334920,,,,,nasal cavity adenocarcinoma,MONDO:0003211,,,nasal cavity adenocarcinoma,DOID:4930,, +BMGC_DS08934,BMG_DS034331,,UMLS ID:C1334921,,,,,nasal cavity lymphoma,MONDO:0001130,,,nasal cavity lymphoma,DOID:10813,, +BMGC_DS08935,BMG_DS034332,,UMLS ID:C1334923,,,,,nasal cavity olfactory neuroblastoma,MONDO:0001129,,,nasal cavity olfactory neuroblastoma,DOID:10812,, +BMGC_DS08936,BMG_DS034334,,UMLS ID:C1334927,,,,,,,,,head and neck carcinoma,DOID:1542,, +BMGC_DS08937,BMG_DS034336,,UMLS ID:C1334945,,,,,nerve plexus neoplasm,MONDO:0003100,,,nerve plexus neoplasm,DOID:4693,, +BMGC_DS08938,BMG_DS034337,,UMLS ID:C1334946,,,,,nerve root neoplasm,MONDO:0003103,,,nerve root neoplasm,DOID:4698,, +BMGC_DS08939,BMG_DS034339,,UMLS ID:C1334956,,,,,,,,,nervous system cancer,DOID:3093,, +BMGC_DS08940,BMG_DS034340,,UMLS ID:C1334957,,,,,posterior pituitary gland neoplasm,MONDO:0003257,,,posterior pituitary gland neoplasm,DOID:5048,, +BMGC_DS08941,BMG_DS034341,,UMLS ID:C1334966,,,,,nipple carcinoma,MONDO:0003950,,,nipple carcinoma,DOID:6629,, +BMGC_DS08942,BMG_DS034342,,UMLS ID:C1334967,,,,,nipple duct carcinoma,MONDO:0004409,,,nipple duct carcinoma,DOID:7953,, +BMGC_DS08943,BMG_DS034345,,UMLS ID:C1334970,,,,,medulloblastoma with extensive nodularity,MONDO:0016710,,,desmoplastic/nodular medulloblastoma,DOID:3873,, +BMGC_DS08944,BMG_DS034347,,UMLS ID:C1334977,,,,,non-functional pancreatic neuroendocrine tumor,MONDO:0004334,,,non-functioning pancreatic endocrine tumor,DOID:7698,, +BMGC_DS08945,BMG_DS034348,,UMLS ID:C1334984,,,,,non-invasive verrucous carcinoma of the penis,MONDO:0003697,,,penis non-invasive verrucous carcinoma,DOID:5907,, +BMGC_DS08946,BMG_DS034349,,UMLS ID:C1335029,,,,,,,,,peripheral nervous system disease,DOID:574,, +BMGC_DS08947,BMG_DS034350,,UMLS ID:C1335037,,,,,,,,,reproductive system disease,DOID:15,, +BMGC_DS08948,BMG_DS034351,,UMLS ID:C1335051,,,,,,,,,urinary system disease,DOID:18,, +BMGC_DS08949,BMG_DS034353,,UMLS ID:C1335060,,,,,,,,,lung adenocarcinoma,DOID:3910,, +BMGC_DS08950,BMG_DS034354,,UMLS ID:C1335061,,,,,non specific chronic endometritis,MONDO:0003051,,,non specific chronic endometritis,DOID:4560,, +BMGC_DS08951,BMG_DS034355,,UMLS ID:C1335062,,,,,nonanaplastic kidney Wilms tumor,MONDO:0003316,,,renal Wilms' tumor,DOID:5176,, +BMGC_DS08952,BMG_DS034356,,UMLS ID:C1335063,,,,,non-ossifying fibromyxoid tumor,MONDO:0004529,,,nonossifying fibromyxoid tumor,DOID:8305,, +BMGC_DS08953,BMG_DS034357,,UMLS ID:C1335069,,,,,notochordal tumor,MONDO:0002597,,,notochordal cancer,DOID:3303,, +BMGC_DS08954,BMG_DS034358,,UMLS ID:C1335095,,,,,lung occult large cell carcinoma,MONDO:0004128,,,lung occult large cell carcinoma,DOID:7169,, +BMGC_DS08955,BMG_DS034359,,UMLS ID:C1335096,,,,,lung occult adenocarcinoma,MONDO:0004127,,,lung occult adenocarcinoma,DOID:7168,, +BMGC_DS08956,BMG_DS034360,,UMLS ID:C1335099,,,,,occult small cell lung carcinoma,MONDO:0003437,,,lung occult small cell carcinoma,DOID:5414,, +BMGC_DS08957,BMG_DS034361,,UMLS ID:C1335100,,,,,lung occult squamous cell carcinoma,MONDO:0003904,,,lung occult squamous cell carcinoma,DOID:6510,, +BMGC_DS08958,BMG_DS034362,,UMLS ID:C1335107,,,,,olfactory groove meningioma,MONDO:0004446,,,olfactory groove meningioma,DOID:8057,, +BMGC_DS08959,BMG_DS034364,,UMLS ID:C1335114,,,,,optic nerve astrocytoma,MONDO:0003234,,,optic nerve astrocytoma,DOID:4991,, +BMGC_DS08960,BMG_DS034365,,UMLS ID:C1335126,,,,,orbit alveolar rhabdomyosarcoma,MONDO:0002978,,,orbit alveolar rhabdomyosarcoma,DOID:4384,, +BMGC_DS08961,BMG_DS034366,,UMLS ID:C1335127,,,,,orbit embryonal rhabdomyosarcoma,MONDO:0002579,,,orbit embryonal rhabdomyosarcoma,DOID:3258,, +BMGC_DS08962,BMG_DS034367,,UMLS ID:C1335128,,,,,hemangioma of orbit,MONDO:0001974,,,hemangioma of orbit,DOID:14459,, +BMGC_DS08963,BMG_DS034368,,UMLS ID:C1335131,,,,,orbit sarcoma,MONDO:0004943,,,orbit sarcoma,DOID:9987,, +BMGC_DS08964,BMG_DS034371,,UMLS ID:C1335149,,,,,breast extraskeletal osteosarcoma,MONDO:0004360,,,breast osteosarcoma,DOID:7787,, +BMGC_DS08965,BMG_DS034373,,UMLS ID:C1335152,,,,,ovarian angiosarcoma,MONDO:0003035,,,ovarian angiosarcoma,DOID:4527,, +BMGC_DS08966,BMG_DS034374,,UMLS ID:C1335155,,,,,ovarian cystic teratoma,MONDO:0003281,,,ovarian cystic teratoma,DOID:5118,, +BMGC_DS08967,BMG_DS034376,,UMLS ID:C1335159,,,,,,,,,ovarian endometrial cancer,DOID:6212,, +BMGC_DS08968,BMG_DS034377,,UMLS ID:C1335163,,,,,ovary leiomyosarcoma,MONDO:0003355,,,ovary leiomyosarcoma,DOID:5263,, +BMGC_DS08969,BMG_DS034378,,UMLS ID:C1335165,,,,,liposarcoma of the ovary,MONDO:0003589,,,liposarcoma of the ovary,DOID:5697,, +BMGC_DS08970,BMG_DS034379,,UMLS ID:C1335167,,,,,ovarian mucinous adenocarcinoma,MONDO:0005601,,,ovarian mucinous adenocarcinoma,DOID:3606,, +BMGC_DS08971,BMG_DS034380,,UMLS ID:C1335168,,,,,ovarian mucinous neoplasm,MONDO:0003756,,,ovarian mucinous neoplasm,DOID:6067,, +BMGC_DS08972,BMG_DS034381,,UMLS ID:C1335169,,,,,ovarian adenosarcoma,MONDO:0002880,,,ovarian mesodermal adenosarcoma,DOID:4115,, +BMGC_DS08973,BMG_DS034382,,UMLS ID:C1335170,,,,,ovarian myxoid liposarcoma,MONDO:0004436,,,myxoid liposarcoma of the ovary,DOID:8023,, +BMGC_DS08974,BMG_DS034383,,UMLS ID:C1335172,,,,,ovarian neuroendocrine neoplasm,MONDO:0002481,,,ovary neuroendocrine neoplasm,DOID:3002,, +BMGC_DS08975,BMG_DS034384,,UMLS ID:C1335174,,,,,ovarian large-cell neuroendocrine carcinoma,MONDO:0003049,,,ovarian large-cell neuroendocrine carcinoma,DOID:4555,, +BMGC_DS08976,BMG_DS034385,,UMLS ID:C1335175,,,,,ovarian papillary cystadenoma,MONDO:0003872,,,ovarian papillary cystadenoma,DOID:6405,, +BMGC_DS08977,BMG_DS034386,,UMLS ID:C1335176,,,,,ovary rhabdomyosarcoma,MONDO:0002858,,,ovary rhabdomyosarcoma,DOID:4059,, +BMGC_DS08978,BMG_DS034387,,UMLS ID:C1335177,,,,,ovarian serous adenocarcinoma,MONDO:0005211,,,ovary serous adenocarcinoma,DOID:5744,, +BMGC_DS08979,BMG_DS034388,,UMLS ID:C1335178,,,,,ovarian serous surface papillary adenocarcinoma,MONDO:0003874,,,ovary papillary carcinoma,DOID:6408,, +BMGC_DS08980,BMG_DS034389,,UMLS ID:C1335181,,,,,ovarian solid teratoma,MONDO:0003852,,,ovarian solid teratoma,DOID:6315,, +BMGC_DS08981,BMG_DS034390,,UMLS ID:C1335183,,,,,ovarian surface papilloma,MONDO:0003873,,,ovarian surface papilloma,DOID:6407,, +BMGC_DS08982,BMG_DS034391,,UMLS ID:C1335184,,,,,ovarian transitional cell carcinoma,MONDO:0006343,,,ovary transitional cell carcinoma,DOID:4000,, +BMGC_DS08983,BMG_DS034393,,UMLS ID:C1335299,,,,,pancreatic adenosquamous carcinoma,MONDO:0005614,,,pancreatic adenosquamous carcinoma,DOID:5637,, +BMGC_DS08984,BMG_DS034394,,UMLS ID:C1335300,,,,,pancreatic ACTH-producing neuroendocrine tumor,MONDO:0004333,,,pancreatic ACTH hormone producing tumor,DOID:7697,, +BMGC_DS08985,BMG_DS034395,,UMLS ID:C1335301,,,,,pancreatic delta cell neuroendocrine tumor,MONDO:0002994,,,pancreatic delta cell neoplasm,DOID:4433,, +BMGC_DS08986,BMG_DS034396,,UMLS ID:C1335302,,,,,pancreatic ductal adenocarcinoma,MONDO:0005184,,,pancreatic ductal adenocarcinoma,DOID:3498,, +BMGC_DS08987,BMG_DS034397,,UMLS ID:C1335303,,,,,pancreatic foamy gland adenocarcinoma,MONDO:0004287,,,pancreatic foamy gland adenocarcinoma,DOID:7577,, +BMGC_DS08988,BMG_DS034398,,UMLS ID:C1335304,,,,,pancreatic intraductal papillary-mucinous carcinoma,MONDO:0004285,,,pancreatic intraductal papillary-colloid carcinoma,DOID:7574,, +BMGC_DS08989,BMG_DS034399,,UMLS ID:C1335307,,,,,pancreas lymphoma,MONDO:0002114,,,pancreas lymphoma,DOID:1792,, +BMGC_DS08990,BMG_DS034400,,UMLS ID:C1335309,,,,,pancreatic mucinous cystadenoma,MONDO:0018523,,,pancreatic colloid cystadenoma,DOID:7735,, +BMGC_DS08991,BMG_DS034401,,UMLS ID:C1335310,,,,,pancreatic mucinous ductal ectasia,MONDO:0001683,,,pancreatic mucinous ductal ectasia,DOID:13313,, +BMGC_DS08992,BMG_DS034402,,UMLS ID:C1335311,,,,,pancreatic non-functioning delta cell tumor,MONDO:0004377,,,pancreatic non-functioning delta cell tumor,DOID:7840,, +BMGC_DS08993,BMG_DS034403,,UMLS ID:C1335315,,,,,pancreatic serous cystadenocarcinoma,MONDO:0003630,,,pancreatic serous cystadenocarcinoma,DOID:5751,, +BMGC_DS08994,BMG_DS034404,,UMLS ID:C1335316,,,,,pancreatic serous cystadenoma,MONDO:0002808,,,pancreatic serous cystadenoma,DOID:3917,, +BMGC_DS08995,BMG_DS034405,,UMLS ID:C1335317,,,,,pancreatic signet ring cell adenocarcinoma,MONDO:0002666,,,pancreatic signet ring cell adenocarcinoma,DOID:3497,, +BMGC_DS08996,BMG_DS034406,,UMLS ID:C1335322,,,,,papillary carcinoma of the penis,MONDO:0004433,,,penis papillary carcinoma,DOID:8013,, +BMGC_DS08997,BMG_DS034408,,UMLS ID:C1335325,,,,,papillary lung adenocarcinoma,MONDO:0006049,,,lung papillary adenocarcinoma,DOID:5588,, +BMGC_DS08998,BMG_DS034409,,UMLS ID:C1335327,,,,,papillary thymic adenocarcinoma,MONDO:0003534,,,papillary thymic adenocarcinoma,DOID:5595,, +BMGC_DS08999,BMG_DS034411,,UMLS ID:C1335329,,,,,papillary urothelial neoplasm,MONDO:0003443,,,urinary tract papillary transitional cell benign neoplasm,DOID:5433,, +BMGC_DS09000,BMG_DS034412,,UMLS ID:C1335336,,,,,,,,,paranasal sinus cancer,DOID:0050619,, +BMGC_DS09001,BMG_DS034413,,UMLS ID:C1335337,,,,,paranasal sinus adenoid cystic carcinoma,MONDO:0006352,,,paranasal sinus cancer,DOID:0050619,, +BMGC_DS09002,BMG_DS034414,,UMLS ID:C1335339,,,,,paranasal sinus lymphoma,MONDO:0001743,,,paranasal sinus lymphoma,DOID:1355,, +BMGC_DS09003,BMG_DS034415,,UMLS ID:C1335340,,,,,paranasal sinus mucoepidermoid carcinoma,MONDO:0044956,,,paranasal sinus cancer,DOID:0050619,, +BMGC_DS09004,BMG_DS034416,,UMLS ID:C1335342,,,,,paranasal sinus sarcoma,MONDO:0001758,,,paranasal sinus sarcoma,DOID:1362,, +BMGC_DS09005,BMG_DS034418,,UMLS ID:C1335348,,,,,paratesticular lipoma,MONDO:0000976,,,paratesticular lipoma,DOID:10207,, +BMGC_DS09006,BMG_DS034420,,UMLS ID:C1335351,,,,,parathyroid oncocytic adenoma,MONDO:0004305,,,parathyroid oncocytic adenoma,DOID:7611,, +BMGC_DS09007,BMG_DS034421,,UMLS ID:C1335352,,,,,,,,,Skene gland carcinoma,DOID:7284,, +BMGC_DS09008,BMG_DS034427,,UMLS ID:C1335372,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS09009,BMG_DS034428,,UMLS ID:C1335377,,,,,periampullary adenocarcinoma,MONDO:0004465,,,periampullary adenocarcinoma,DOID:8110,, +BMGC_DS09010,BMG_DS034430,,UMLS ID:C1335381,,,,,malignant pericardial mesothelioma,MONDO:0003805,,,pericardial mesothelioma,DOID:6201,, +BMGC_DS09011,BMG_DS034432,,UMLS ID:C1335383,,,,,periocular meningioma,MONDO:0004439,,,periocular meningioma,DOID:8030,, +BMGC_DS09012,BMG_DS034433,,UMLS ID:C1335387,,,,,peripheral ganglioneuroblastoma,MONDO:0003327,,,peripheral nervous system ganglioneuroblastoma,DOID:5195,, +BMGC_DS09013,BMG_DS034434,,UMLS ID:C1335390,,,,,microscopic breast papilloma,MONDO:0004506,,,microscopic breast papilloma,DOID:8225,, +BMGC_DS09014,BMG_DS034435,,UMLS ID:C1335392,,,,,pericytic neoplasm,MONDO:0002604,,,perivascular tumor,DOID:3316,, +BMGC_DS09015,BMG_DS034436,,UMLS ID:C1335395,,,,,petroclival meningioma,MONDO:0004367,,,petroclival meningioma,DOID:7818,, +BMGC_DS09016,BMG_DS034437,,UMLS ID:C1335396,,,,,petrous apex meningioma,MONDO:0004238,,,petrous apex meningioma,DOID:7482,, +BMGC_DS09017,BMG_DS034442,,UMLS ID:C1335414,,,,,pineal region choriocarcinoma,MONDO:0003509,,,pineal region choriocarcinoma,DOID:5553,, +BMGC_DS09018,BMG_DS034443,,UMLS ID:C1335415,,,,,pineal region dysgerminoma,MONDO:0003480,,,pineal dysgerminoma,DOID:5510,, +BMGC_DS09019,BMG_DS034444,,UMLS ID:C1335416,,,,,pineal region immature teratoma,MONDO:0004017,,,pineal region immature teratoma,DOID:6858,, +BMGC_DS09020,BMG_DS034445,,UMLS ID:C1335417,,,,,pineal region mature teratoma,MONDO:0004016,,,pineal region mature teratoma,DOID:6857,, +BMGC_DS09021,BMG_DS034446,,UMLS ID:C1335418,,,,,pineal region meningioma,MONDO:0004440,,,pineal region meningioma,DOID:8031,, +BMGC_DS09022,BMG_DS034447,,UMLS ID:C1335419,,,,,pineal region teratoma,MONDO:0004015,,,pineal region teratoma,DOID:6856,, +BMGC_DS09023,BMG_DS034448,,UMLS ID:C1335420,,,,,pineal region yolk sac tumor,MONDO:0003399,,,pineal region yolk sac tumor,DOID:5341,, +BMGC_DS09024,BMG_DS034449,,UMLS ID:C1335422,,,,,pituitary stalk meningioma,MONDO:0004447,,,pituitary stalk meningioma,DOID:8058,, +BMGC_DS09025,BMG_DS034450,,UMLS ID:C1335423,,,,,,,,,placenta disease,DOID:780,, +BMGC_DS09026,BMG_DS034452,,UMLS ID:C1335435,,,,,neurilemmoma of the pleura,MONDO:0003926,,,neurilemmoma of the pleura,DOID:6564,, +BMGC_DS09027,BMG_DS034453,,UMLS ID:C1335437,,,,,,,,,plexopathy,DOID:3688,, +BMGC_DS09028,BMG_DS034454,,UMLS ID:C1335449,,,,,posterior foramen magnum meningioma,MONDO:0003921,,,posterior foramen magnum meningioma,DOID:6553,, +BMGC_DS09029,BMG_DS034455,,UMLS ID:C1335469,,,,,precursor lymphoblastic lymphoma/leukemia,MONDO:0003538,,,acute lymphoblastic leukemia,DOID:9952,, +BMGC_DS09030,BMG_DS034457,,UMLS ID:C1335473,,,,,,,,,chondrosarcoma,DOID:3371,, +BMGC_DS09031,BMG_DS034459,,UMLS ID:C1335481,,,,,primary skin meningioma,MONDO:0024663,,,skin meningioma,DOID:8006,, +BMGC_DS09032,BMG_DS034461,,UMLS ID:C1335488,,,,,,,,,lung meningioma,DOID:5764,, +BMGC_DS09033,BMG_DS034462,,UMLS ID:C1335502,,,,,prostate adenoid cystic carcinoma,MONDO:0003177,,,prostate adenoid cystic carcinoma,DOID:4868,, +BMGC_DS09034,BMG_DS034463,,UMLS ID:C1335503,,,,,adenosquamous prostate carcinoma,MONDO:0003558,,,adenosquamous prostate carcinoma,DOID:5634,, +BMGC_DS09035,BMG_DS034464,,UMLS ID:C1335504,,,,,prostate angiosarcoma,MONDO:0003033,,,prostate angiosarcoma,DOID:4524,, +BMGC_DS09036,BMG_DS034465,,UMLS ID:C1335508,,,,,prostate embryonal rhabdomyosarcoma,MONDO:0002574,,,prostate embryonal rhabdomyosarcoma,DOID:3251,, +BMGC_DS09037,BMG_DS034466,,UMLS ID:C1335509,,,,,,,,,Kaposi's sarcoma,DOID:8632,, +BMGC_DS09038,BMG_DS034468,,UMLS ID:C1335511,,,,,prostate leiomyosarcoma,MONDO:0003368,,,prostate leiomyosarcoma,DOID:5282,, +BMGC_DS09039,BMG_DS034469,,UMLS ID:C1335512,,,,,prostate lymphoma,MONDO:0000996,,,prostate lymphoma,DOID:10290,, +BMGC_DS09040,BMG_DS034470,,UMLS ID:C1335513,,,,,acinar prostate mucinous adenocarcinoma,MONDO:0006067,,,prostate colloid adenocarcinoma,DOID:3703,, +BMGC_DS09041,BMG_DS034471,,UMLS ID:C1335515,,,,,prostate neuroendocrine neoplasm,MONDO:0002477,,,prostate neuroendocrine neoplasm,DOID:2992,, +BMGC_DS09042,BMG_DS034472,,UMLS ID:C1335518,,,,,prostate rhabdomyosarcoma,MONDO:0006389,,,prostate rhabdomyosarcoma,DOID:3252,, +BMGC_DS09043,BMG_DS034473,,UMLS ID:C1335520,,,,,,,,,prostate signet ring cell adenocarcinoma,DOID:3504,, +BMGC_DS09044,BMG_DS034474,,UMLS ID:C1335521,,,,,prostate stromal sarcoma,MONDO:0004124,,,prostate stromal sarcoma,DOID:7152,, +BMGC_DS09045,BMG_DS034475,,UMLS ID:C1335563,,,,,proximal-type epithelioid sarcoma,MONDO:0004244,,,central epithelioid sarcoma,DOID:7492,, +BMGC_DS09046,BMG_DS034477,,UMLS ID:C1335572,,,,,pulmonary artery leiomyosarcoma,MONDO:0004207,,,pulmonary artery leiomyosarcoma,DOID:7389,, +BMGC_DS09047,BMG_DS034478,,UMLS ID:C1335574,,,,,pulmonary sulcus neoplasm,MONDO:0024813,,,Pancoast tumor,DOID:8007,, +BMGC_DS09048,BMG_DS034479,,UMLS ID:C1335575,,,,,pulmonary vein leiomyosarcoma,MONDO:0004206,,,pulmonary vein leiomyosarcoma,DOID:7388,, +BMGC_DS09049,BMG_DS034480,,UMLS ID:C1335666,,,,,reactive cutaneous fibrous lesion,MONDO:0006603,,,reactive cutaneous fibrous lesion,DOID:2053,, +BMGC_DS09050,BMG_DS034483,,UMLS ID:C1335681,,,,,rectum Kaposi sarcoma,MONDO:0003796,,,rectum Kaposi's sarcoma,DOID:6190,, +BMGC_DS09051,BMG_DS034484,,UMLS ID:C1335682,,,,,rectum leiomyoma,MONDO:0004125,,,rectal leiomyoma,DOID:7160,, +BMGC_DS09052,BMG_DS034485,,UMLS ID:C1335683,,,,,rectum leiomyosarcoma,MONDO:0003379,,,rectum leiomyosarcoma,DOID:5297,, +BMGC_DS09053,BMG_DS034486,,UMLS ID:C1335684,,,,,lipoma of the rectum,MONDO:0003884,,,rectal lipoma,DOID:6459,, +BMGC_DS09054,BMG_DS034487,,UMLS ID:C1335685,,,,,rectum lymphoma,MONDO:0002166,,,rectum lymphoma,DOID:1988,, +BMGC_DS09055,BMG_DS034488,,UMLS ID:C1335686,,,,,,,,,rectum neuroendocrine neoplasm,DOID:5777,, +BMGC_DS09056,BMG_DS034489,,UMLS ID:C1335687,,,,,rectum rhabdomyosarcoma,MONDO:0002853,,,rectum rhabdomyosarcoma,DOID:4053,, +BMGC_DS09057,BMG_DS034490,,UMLS ID:C1335688,,,,,rectum sarcoma,MONDO:0002168,,,rectum sarcoma,DOID:1995,, +BMGC_DS09058,BMG_DS034491,,UMLS ID:C1335689,,,,,rectal sarcomatoid carcinoma,MONDO:0004196,,,rectum sarcomatoid carcinoma,DOID:7356,, +BMGC_DS09059,BMG_DS034492,,UMLS ID:C1335690,,,,,squamous cell carcinoma of rectum,MONDO:0018515,,,rectum squamous cell carcinoma,DOID:5528,, +BMGC_DS09060,BMG_DS034494,,UMLS ID:C1335724,,,,,refractory hematologic cancer,MONDO:0004111,,,refractory hematologic cancer,DOID:712,, +BMGC_DS09061,BMG_DS034495,,UMLS ID:C1335743,,,,,kidney leiomyosarcoma,MONDO:0003373,,,kidney leiomyosarcoma,DOID:5287,, +BMGC_DS09062,BMG_DS034496,,UMLS ID:C1335744,,,,,kidney lipoma,MONDO:0000968,,,kidney lipoma,DOID:10194,, +BMGC_DS09063,BMG_DS034497,,UMLS ID:C1335745,,,,,kidney liposarcoma,MONDO:0003591,,,kidney liposarcoma,DOID:5699,, +BMGC_DS09064,BMG_DS034498,,UMLS ID:C1335747,,,,,kidney osteogenic sarcoma,MONDO:0003721,,,kidney osteogenic sarcoma,DOID:5983,, +BMGC_DS09065,BMG_DS034499,,UMLS ID:C1335748,,,,,renal pelvis adenocarcinoma,MONDO:0003205,,,renal pelvis adenocarcinoma,DOID:4918,, +BMGC_DS09066,BMG_DS034500,,UMLS ID:C1335749,,,,,renal pelvis carcinoma,MONDO:0005519,,,renal pelvis carcinoma,DOID:4919,, +BMGC_DS09067,BMG_DS034501,,UMLS ID:C1335751,,,,,renal pelvis inverted papilloma,MONDO:0003776,,,renal pelvis inverted papilloma,DOID:6118,, +BMGC_DS09068,BMG_DS034502,,UMLS ID:C1335752,,,,,kidney pelvis sarcomatoid transitional cell carcinoma,MONDO:0004009,,,kidney pelvis sarcomatoid transitional cell carcinoma,DOID:6844,, +BMGC_DS09069,BMG_DS034503,,UMLS ID:C1335753,,,,,,,,,vascular cancer,DOID:175,, +BMGC_DS09070,BMG_DS034504,,UMLS ID:C1335765,,,,,retinal cell neoplasm,MONDO:0024341,,,retinal cell cancer,DOID:771,, +BMGC_DS09071,BMG_DS034505,,UMLS ID:C1335776,,,,,retroperitoneal germ cell neoplasm,MONDO:0003685,,,retroperitoneal germ cell neoplasm,DOID:5874,, +BMGC_DS09072,BMG_DS034506,,UMLS ID:C1335777,,,,,retroperitoneal hemangiopericytoma,MONDO:0003412,,,retroperitoneal hemangiopericytoma,DOID:5373,, +BMGC_DS09073,BMG_DS034507,,UMLS ID:C1335779,,,,,retroperitoneal lymphoma,MONDO:0001499,,,retroperitoneal lymphoma,DOID:12339,, +BMGC_DS09074,BMG_DS034508,,UMLS ID:C1335893,,,,,sacral spinal canal and spinal cord meningioma,MONDO:0004498,,,sacral spinal canal and spinal cord meningioma,DOID:8203,, +BMGC_DS09075,BMG_DS034512,,UMLS ID:C1335923,,,,,sarcomatoid penile squamous cell carcinoma,MONDO:0004410,,,sarcomatoid penile squamous cell carcinoma,DOID:7958,, +BMGC_DS09076,BMG_DS034513,,UMLS ID:C1335924,,,,,thymic sarcomatoid carcinoma,MONDO:0006452,,,thymus sarcomatoid carcinoma,DOID:8138,, +BMGC_DS09077,BMG_DS034514,,UMLS ID:C1335928,,,,,schwannoma of twelfth cranial nerve,MONDO:0002549,,,schwannoma of twelfth cranial nerve,DOID:3197,, +BMGC_DS09078,BMG_DS034515,,UMLS ID:C1335929,,,,,schwannomatosis,MONDO:0008075,,,schwannomatosis,DOID:3204,, +BMGC_DS09079,BMG_DS034516,,UMLS ID:C1335931,,,,,sclerosing adenosis of breast,MONDO:0004531,,,sclerosing adenosis of breast,DOID:8310,, +BMGC_DS09080,BMG_DS034517,,UMLS ID:C1335932,,,,,sclerosing breast papilloma,MONDO:0004421,,,sclerosing breast papilloma,DOID:7984,, +BMGC_DS09081,BMG_DS034518,,UMLS ID:C1335934,,,,,scrotum basal cell carcinoma,MONDO:0002936,,,scrotum basal cell carcinoma,DOID:4278,, +BMGC_DS09082,BMG_DS034519,,UMLS ID:C1335936,,,,,scrotal hemangioma,MONDO:0003951,,,scrotal angioma,DOID:663,, +BMGC_DS09083,BMG_DS034520,,UMLS ID:C1335942,,,,,selective immunoglobulin deficiency disease,MONDO:0003739,,,selective immunoglobulin deficiency disease,DOID:6025,, +BMGC_DS09084,BMG_DS034522,,UMLS ID:C1335964,,,,,signet ring cell breast carcinoma,MONDO:0002671,,,breast signet ring cell adenocarcinoma,DOID:3503,, +BMGC_DS09085,BMG_DS034523,,UMLS ID:C1335965,,,,,signet ring cell gastric adenocarcinoma,MONDO:0006409,,,gastric signet ring cell adenocarcinoma,DOID:8025,, +BMGC_DS09086,BMG_DS034524,,UMLS ID:C1335971,,,,,skeletal muscle neoplasm,MONDO:0002848,,,skeletal muscle neoplasm,DOID:4044,, +BMGC_DS09087,BMG_DS034525,,UMLS ID:C1335973,,,,,skin basaloid carcinoma,MONDO:0004091,,,basaloid squamous cell skin carcinoma,DOID:7049,, +BMGC_DS09088,BMG_DS034526,,UMLS ID:C1335974,,,,,pseudovascular skin squamous cell carcinoma,MONDO:0004469,,,pseudovascular skin squamous cell carcinoma,DOID:8122,, +BMGC_DS09089,BMG_DS034527,,UMLS ID:C1335975,,,,,skull base chordoma,MONDO:0002892,,,skull base chordoma,DOID:4151,, +BMGC_DS09090,BMG_DS034528,,UMLS ID:C1335976,,,,,skull base meningioma,MONDO:0002998,,,skull base meningioma,DOID:4437,, +BMGC_DS09091,BMG_DS034529,,UMLS ID:C1335979,,,,,extrahepatic bile duct small cell adenocarcinoma,MONDO:0003708,,,extrahepatic bile duct small cell adenocarcinoma,DOID:5926,, +BMGC_DS09092,BMG_DS034530,,UMLS ID:C1335980,,,,,thymus small cell carcinoma,MONDO:0004122,,,thymus small cell carcinoma,DOID:7142,, +BMGC_DS09093,BMG_DS034534,,UMLS ID:C1335994,,,,,small intestinal fibrosarcoma,MONDO:0004028,,,small bowel fibrosarcoma,DOID:6880,, +BMGC_DS09094,BMG_DS034537,,UMLS ID:C1336005,,,,,small intestine neuroendocrine neoplasm,MONDO:0018510,,,small intestine neuroendocrine neoplasm,DOID:4434,, +BMGC_DS09095,BMG_DS034538,,UMLS ID:C1336007,,,,,small intestinal sarcoma,MONDO:0003361,,,small intestinal sarcoma,DOID:5272,, +BMGC_DS09096,BMG_DS034539,,UMLS ID:C1336009,,,,,small intestinal vasoactive intestinal peptide producing tumor,MONDO:0003621,,,small intestinal vasoactive intestinal peptide producing tumor,DOID:5740,, +BMGC_DS09097,BMG_DS034540,,UMLS ID:C1336021,,,,,,,,,fibrosarcoma,DOID:3355,, +BMGC_DS09098,BMG_DS034541,,UMLS ID:C1336027,,,,,solid papillary breast carcinoma,MONDO:0044783,,,breast papillary carcinoma,DOID:5592,, +BMGC_DS09099,BMG_DS034542,,UMLS ID:C1336029,,,,,solid pseudopapillary carcinoma of pancreas,MONDO:0018525,,,pancreatic solid pseudopapillary carcinoma,DOID:6827,, +BMGC_DS09100,BMG_DS034544,,UMLS ID:C1336036,,,,,sphenocavernous meningioma,MONDO:0004370,,,sphenocavernous meningioma,DOID:7820,, +BMGC_DS09101,BMG_DS034545,,UMLS ID:C1336037,,,,,sphenoid sinus inverted papilloma,MONDO:0004326,,,sphenoid sinus inverted papilloma,DOID:7678,, +BMGC_DS09102,BMG_DS034546,,UMLS ID:C1336038,,,,,sphenoid sinus Schneiderian papilloma,MONDO:0004327,,,sphenoid sinus Schneiderian papilloma,DOID:7679,, +BMGC_DS09103,BMG_DS034547,,UMLS ID:C1336039,,,,,sphenoid sinus squamous cell carcinoma,MONDO:0001995,,,sphenoid sinus squamous cell carcinoma,DOID:14547,, +BMGC_DS09104,BMG_DS034548,,UMLS ID:C1336040,,,,,sphenoorbital meningioma,MONDO:0004368,,,sphenoorbital meningioma,DOID:7819,, +BMGC_DS09105,BMG_DS034549,,UMLS ID:C1336044,,,,,spinal cord lymphoma,MONDO:0001892,,,spinal cord lymphoma,DOID:14150,, +BMGC_DS09106,BMG_DS034550,,UMLS ID:C1336045,,,,,spinal cord melanoma,MONDO:0001893,,,spinal cord melanoma,DOID:14151,, +BMGC_DS09107,BMG_DS034551,,UMLS ID:C1336046,,,,,spinal cord neuroblastoma,MONDO:0004024,,,spinal cord neuroblastoma,DOID:6871,, +BMGC_DS09108,BMG_DS034552,,UMLS ID:C1336047,,,,,neurofibroma of spinal cord,MONDO:0001789,,,neurofibroma of spinal cord,DOID:13742,, +BMGC_DS09109,BMG_DS034553,,UMLS ID:C1336048,,,,,spinal cord primitive neuroectodermal tumor,MONDO:0006426,,,spinal cord primitive neuroectodermal neoplasm,DOID:6872,, +BMGC_DS09110,BMG_DS034554,,UMLS ID:C1336049,,,,,spinal cord sarcoma,MONDO:0001894,,,spinal cord sarcoma,DOID:14152,, +BMGC_DS09111,BMG_DS034555,,UMLS ID:C1336051,,,,,spinal multifocal clear cell meningioma,MONDO:0004371,,,spinal multifocal clear cell meningioma,DOID:7824,, +BMGC_DS09112,BMG_DS034557,,UMLS ID:C1336064,,,,,splenic manifestation of hairy cell leukemia,MONDO:0004104,,,splenic manifestation of hairy cell leukemia,DOID:709,, +BMGC_DS09113,BMG_DS034558,,UMLS ID:C1336065,,,,,splenic manifestation of leukemia,MONDO:0004107,,,splenic manifestation of leukemia,DOID:710,, +BMGC_DS09114,BMG_DS034559,,UMLS ID:C1336066,,,,,splenic manifestation of prolymphocytic leukemia,MONDO:0002966,,,splenic manifestation of prolymphocytic leukemia,DOID:4334,, +BMGC_DS09115,BMG_DS034560,,UMLS ID:C1336076,,,,,sporadic breast cancer,MONDO:0004438,,,sporadic breast cancer,DOID:8029,, +BMGC_DS09116,BMG_DS034561,,UMLS ID:C1336078,,,,,,,,,papillary renal cell carcinoma,DOID:4465,, +BMGC_DS09117,BMG_DS034562,,UMLS ID:C1336079,,,,,squamous cell breast carcinoma,MONDO:0006056,,,breast squamous cell carcinoma,DOID:5514,, +BMGC_DS09118,BMG_DS034563,,UMLS ID:C1336081,,,,,,,,,penis squamous cell carcinoma,DOID:5518,, +BMGC_DS09119,BMG_DS034564,,UMLS ID:C1336082,,,,,thymus squamous cell carcinoma,MONDO:0003493,,,thymus squamous cell carcinoma,DOID:5530,, +BMGC_DS09120,BMG_DS034566,,UMLS ID:C1336096,,,,,,,,,intratubular embryonal carcinoma,DOID:8275,, +BMGC_DS09121,BMG_DS034567,,UMLS ID:C1336362,,,,,stage IVb bladder cancer,MONDO:0004182,,,Jewett-Marshall bladder cancer,DOID:7315,, +BMGC_DS09122,BMG_DS034568,,UMLS ID:C1336504,,,,,sternum lymphoma,MONDO:0003988,,,sternum lymphoma,DOID:6762,, +BMGC_DS09123,BMG_DS034569,,UMLS ID:C1336506,,,,,steroid lipomatosis,MONDO:0006612,,,steroid lipomatosis,DOID:3925,, +BMGC_DS09124,BMG_DS034574,,UMLS ID:C1336527,,,,,superficial urinary bladder carcinoma,MONDO:0004200,,,superficial urinary bladder cancer,DOID:7371,, +BMGC_DS09125,BMG_DS034575,,UMLS ID:C1336529,,,,,lung superior sulcus carcinoma,MONDO:0004500,,,lung superior sulcus carcinoma,DOID:8208,, +BMGC_DS09126,BMG_DS034576,,UMLS ID:C1336530,,,,,superior vena cava angiosarcoma,MONDO:0003032,,,superior vena cava angiosarcoma,DOID:4522,, +BMGC_DS09127,BMG_DS034577,,UMLS ID:C1336531,,,,,superior vena cava leiomyosarcoma,MONDO:0004208,,,superior vena cava leiomyosarcoma,DOID:7390,, +BMGC_DS09128,BMG_DS034578,,UMLS ID:C1336535,,,,,suprasellar meningioma,MONDO:0004312,,,suprasellar meningioma,DOID:7634,, +BMGC_DS09129,BMG_DS034580,,UMLS ID:C1336538,,,,,supratentorial primitive neuroectodermal tumor,MONDO:0003145,,,supratentorial primitive neuroectodermal tumor,DOID:4791,, +BMGC_DS09130,BMG_DS034581,,UMLS ID:C1336543,,,,,sympathetic neurilemmoma,MONDO:0002554,,,sympathetic neurilemmoma,DOID:3201,, +BMGC_DS09131,BMG_DS034582,,UMLS ID:C1336544,,,,,synchronous multifocal osteogenic sarcoma,MONDO:0003967,,,synchronous multifocal osteogenic sarcoma,DOID:6696,, +BMGC_DS09132,BMG_DS034583,,UMLS ID:C1336546,,,,,synovial angioma,MONDO:0004519,,,synovial angioma,DOID:8274,, +BMGC_DS09133,BMG_DS034585,,UMLS ID:C1336695,,,,,tall cell variant thyroid gland papillary carcinoma,MONDO:0004103,,,tall cell papillary thyroid carcinoma,DOID:7089,, +BMGC_DS09134,BMG_DS034586,,UMLS ID:C1336699,,,,,telangiectatic glomangioma,MONDO:0003747,,,telangiectatic glomangioma,DOID:6048,, +BMGC_DS09135,BMG_DS034587,,UMLS ID:C1336703,,,,,tendon sheath lipoma,MONDO:0004076,,,tendon sheath lipoma,DOID:7016,, +BMGC_DS09136,BMG_DS034588,,UMLS ID:C1336708,,,,,testicular germ cell tumor,MONDO:0010108,,,testicular germ cell cancer,DOID:5557,,OMIM ID:273300 +BMGC_DS09137,BMG_DS034589,,UMLS ID:C1336709,,,,,testicular granulosa cell tumor,MONDO:0003395,,,testicular granulosa cell tumor,DOID:5331,, +BMGC_DS09138,BMG_DS034590,,UMLS ID:C1336711,,,,,testicular leukemia,MONDO:0001482,,,testicular leukemia,DOID:12286,, +BMGC_DS09139,BMG_DS034591,,UMLS ID:C1336720,,,,,mixed testicular germ cell cancer,MONDO:0003120,,,mixed testicular germ cell tumor,DOID:4743,, +BMGC_DS09140,BMG_DS034592,,UMLS ID:C1336726,,,,,testis rhabdomyosarcoma,MONDO:0002860,,,testis rhabdomyosarcoma,DOID:4061,, +BMGC_DS09141,BMG_DS034593,,UMLS ID:C1336727,,,,,testis sarcoma,MONDO:0002861,,,testis sarcoma,DOID:4062,, +BMGC_DS09142,BMG_DS034594,,UMLS ID:C1336733,,,,,,,,,thalamic neoplasm,DOID:6098,, +BMGC_DS09143,BMG_DS034595,,UMLS ID:C1336738,,,,,thoracic spinal canal and spinal cord meningioma,MONDO:0003770,,,thoracic spinal canal and spinal cord meningioma,DOID:6103,, +BMGC_DS09144,BMG_DS034596,,UMLS ID:C1336743,,,,,thymus gland adenocarcinoma,MONDO:0003209,,,thymus adenocarcinoma,DOID:4923,, +BMGC_DS09145,BMG_DS034598,,UMLS ID:C1336745,,,,,thymus lymphoma,MONDO:0000951,,,thymus lymphoma,DOID:10146,, +BMGC_DS09146,BMG_DS034599,,UMLS ID:C1336748,,,,,thyroid gland angiosarcoma,MONDO:0003027,,,thyroid angiosarcoma,DOID:4514,, +BMGC_DS09147,BMG_DS034601,,UMLS ID:C1336750,,,,,thyroid gland oncocytic adenoma,MONDO:0004483,,,thyroid Hurthle cell adenoma,DOID:8162,, +BMGC_DS09148,BMG_DS034602,,UMLS ID:C1336751,,,,,thyroid hyalinizing trabecular adenoma,MONDO:0003806,,,thyroid hyalinizing trabecular adenoma,DOID:6203,, +BMGC_DS09149,BMG_DS034603,,UMLS ID:C1336753,,,,,thyroid lymphoma,MONDO:0019962,,,thyroid lymphoma,DOID:10011,, +BMGC_DS09150,BMG_DS034605,,UMLS ID:C1336756,,,,,thyroid sarcoma,MONDO:0003028,,,thyroid sarcoma,DOID:4515,, +BMGC_DS09151,BMG_DS034609,,UMLS ID:C1336773,,,,,tracheal lymphoma,MONDO:0001417,,,tracheal lymphoma,DOID:12001,, +BMGC_DS09152,BMG_DS034610,,UMLS ID:C1336774,,,,,trachea sarcoma,MONDO:0001418,,,trachea sarcoma,DOID:12002,, +BMGC_DS09153,BMG_DS034611,,UMLS ID:C1336829,,,,,tuberculum sellae meningioma,MONDO:0004339,,,tuberculum sellae meningioma,DOID:7713,, +BMGC_DS09154,BMG_DS034615,,UMLS ID:C1336871,,,,,upper clivus meningioma,MONDO:0004503,,,upper clivus meningioma,DOID:8221,, +BMGC_DS09155,BMG_DS034616,,UMLS ID:C1336873,,,,,ureter adenocarcinoma,MONDO:0003216,,,ureter adenocarcinoma,DOID:4938,, +BMGC_DS09156,BMG_DS034617,,UMLS ID:C1336874,,,,,ureter inverted papilloma,MONDO:0004043,,,ureter inverted papilloma,DOID:6935,, +BMGC_DS09157,BMG_DS034618,,UMLS ID:C1336875,,,,,ureter leiomyoma,MONDO:0001399,,,ureter leiomyoma,DOID:11887,, +BMGC_DS09158,BMG_DS034619,,UMLS ID:C1336876,,,,,ureteral lymphoma,MONDO:0001977,,,ureteral lymphoma,DOID:14489,, +BMGC_DS09159,BMG_DS034620,,UMLS ID:C1336877,,,,,schwannoma of ureter,MONDO:0001400,,,schwannoma of ureter,DOID:11888,, +BMGC_DS09160,BMG_DS034621,,UMLS ID:C1336878,,,,,ureter small cell carcinoma,MONDO:0006482,,,ureter small cell carcinoma,DOID:6886,, +BMGC_DS09161,BMG_DS034622,,UMLS ID:C1336879,,,,,ureter squamous cell carcinoma,MONDO:0003502,,,ureter squamous cell carcinoma,DOID:5539,, +BMGC_DS09162,BMG_DS034623,,UMLS ID:C1336884,,,,,fibroepithelial polyp of urethra,MONDO:0006550,,,fibroepithelial polyp of urethra,DOID:8108,, +BMGC_DS09163,BMG_DS034624,,UMLS ID:C1336885,,,,,urethra adenocarcinoma,MONDO:0003200,,,urethra adenocarcinoma,DOID:4910,, +BMGC_DS09164,BMG_DS034625,,UMLS ID:C1336886,,,,,urethra clear cell adenocarcinoma,MONDO:0003387,,,urethra clear cell adenocarcinoma,DOID:5307,, +BMGC_DS09165,BMG_DS034626,,UMLS ID:C1336887,,,,,urethra inverted papilloma,MONDO:0004042,,,urethra inverted papilloma,DOID:6934,, +BMGC_DS09166,BMG_DS034627,,UMLS ID:C1336888,,,,,urethra leiomyoma,MONDO:0002222,,,urethra leiomyoma,DOID:2142,, +BMGC_DS09167,BMG_DS034628,,UMLS ID:C1336889,,,,,nephrogenic adenoma of the urethra,MONDO:0004464,,,nephrogenic adenoma of the urethra,DOID:8109,, +BMGC_DS09168,BMG_DS034629,,UMLS ID:C1336890,,,,,urethra squamous cell carcinoma,MONDO:0002764,,,urethra squamous cell carcinoma,DOID:3750,, +BMGC_DS09169,BMG_DS034637,,UMLS ID:C1336903,,,,,adenomyoma of uterine corpus,MONDO:0003237,,,adenomyoma of uterine corpus,DOID:4994,, +BMGC_DS09170,BMG_DS034638,,UMLS ID:C1336904,,,,,uterine corpus choriocarcinoma,MONDO:0004491,,,uterine corpus choriocarcinoma,DOID:8188,, +BMGC_DS09171,BMG_DS034639,,UMLS ID:C1336905,,,,,endometrial endometrioid adenocarcinoma,MONDO:0006192,,,endometrial adenocarcinoma,DOID:2870,, +BMGC_DS09172,BMG_DS034640,,UMLS ID:C1336913,,,,,endometrial endometrioid adenocarcinoma with spindled epithelial cells,MONDO:0004220,,,sarcomatoid uterine corpus endometrioid adenocarcinoma,DOID:7436,, +BMGC_DS09173,BMG_DS034641,,UMLS ID:C1336917,,,,,uterine corpus adenosarcoma,MONDO:0002878,,,uterine corpus adenosarcoma,DOID:4113,, +BMGC_DS09174,BMG_DS034643,,UMLS ID:C1336940,,,,,vagina leiomyosarcoma,MONDO:0003369,,,vagina leiomyosarcoma,DOID:5283,, +BMGC_DS09175,BMG_DS034645,,UMLS ID:C1336945,,,,,vaginal yolk sac tumor,MONDO:0002143,,,vaginal yolk sac tumor,DOID:1910,, +BMGC_DS09176,BMG_DS034647,,UMLS ID:C1336955,,,,,penis verrucous carcinoma,MONDO:0003698,,,penis verrucous carcinoma,DOID:5908,, +BMGC_DS09177,BMG_DS034648,,UMLS ID:C1336962,,,,,villoglandular endometrial endometrioid adenocarcinoma,MONDO:0003991,,,villoglandular endometrial endometrioid adenocarcinoma,DOID:6777,, +BMGC_DS09178,BMG_DS034649,,UMLS ID:C1336971,,,,,optic tract astrocytoma,MONDO:0024649,,,optic nerve astrocytoma,DOID:4991,, +BMGC_DS09179,BMG_DS034651,,UMLS ID:C1336975,,,,,vulvar adenocarcinoma,MONDO:0024336,,,vulva adenocarcinoma,DOID:2098,, +BMGC_DS09180,BMG_DS034652,,UMLS ID:C1336977,,,,,vulva basal cell carcinoma,MONDO:0002955,,,vulva basal cell carcinoma,DOID:4301,, +BMGC_DS09181,BMG_DS034653,,UMLS ID:C1336978,,,,,vulva fibroepithelial polyp,MONDO:0006620,,,vulva fibroepithelial polyp,DOID:8255,, +BMGC_DS09182,BMG_DS034654,,UMLS ID:C1336981,,,,,vulvar seborrheic keratosis,MONDO:0006622,,,vulvar seborrheic keratosis,DOID:6944,, +BMGC_DS09183,BMG_DS034655,,UMLS ID:C1336982,,,,,vestibular papilloma,MONDO:0002194,,,vulvar squamous papilloma,DOID:2071,, +BMGC_DS09184,BMG_DS034656,,UMLS ID:C1336983,,,,,vulva verrucous carcinoma,MONDO:0002758,,,vulva verrucous carcinoma,DOID:3740,, +BMGC_DS09185,BMG_DS034659,,UMLS ID:C1337012,,,,,well differentiated papillary mesothelioma,MONDO:0003688,,,benign intermediate mesothelioma,DOID:5884,, +BMGC_DS09186,BMG_DS034660,,UMLS ID:C1337013,,,,,differentiated thyroid carcinoma,MONDO:0015447,,,,,, +BMGC_DS09187,BMG_DS034661,Xanthogranulomatous cholecystitis,UMLS ID:C1337035,Xanthogranulomatous cholecystitis (disorder) | Xanthogranulomatous cholecystitis,SNOMEDCT ID:448286002,,,xanthogranulomatous cholecystitis,MONDO:0004875,,MeSH ID:C536762,xanthogranulomatous cholecystitis,DOID:9766,, +BMGC_DS09188,BMG_DS034663,,UMLS ID:C1337040,,,,,yolk sac tumor of central nervous system,MONDO:0016739,,,central nervous system endodermal sinus tumor,DOID:5343,, +BMGC_DS09189,BMG_DS034665,Acute amebic dysentery without mention of abscess,UMLS ID:C1363999,Acute amebiasis | Acute amoebiasis | Acute amebiasis (disorder),SNOMEDCT ID:39224005,,,,,,,,,, +BMGC_DS09190,BMG_DS034670,,UMLS ID:C1366911,,,,,cerebral cavernous malformation 1,MONDO:0020724,,,,,,OMIM ID:116860 +BMGC_DS09191,BMG_DS034671,,UMLS ID:C1367420,,,,,kaposiform hemangioendothelioma,MONDO:0016236,,,,,, +BMGC_DS09192,BMG_DS034672,,UMLS ID:C1367536,,,,,juvenile nasopharyngeal angiofibroma,MONDO:0017340,,,,,, +BMGC_DS09193,BMG_DS034673,,UMLS ID:C1367654,,,,,marginal zone lymphoma,MONDO:0017604,,,,,, +BMGC_DS09194,BMG_DS034674,,UMLS ID:C1367774,,,,,,,,,eccrine papillary adenocarcinoma,DOID:5591,, +BMGC_DS09195,BMG_DS034676,,UMLS ID:C1367859,,,,,pineal parenchymal tumor of intermediate differentiation,MONDO:0006369,,,pineal parenchymal tumor of intermediate differentiation,DOID:5030,, +BMGC_DS09196,BMG_DS034679,,UMLS ID:C1368019,,,,,Paget disease,MONDO:0021165,,,mammary Paget's disease,DOID:3443,, +BMGC_DS09197,BMG_DS034680,Pulmonary insufficiency following trauma,UMLS ID:C1368020,Pulmonary insufficiency following trauma | Pulmonary insufficiency following trauma (disorder) | Adult respiratory distress syndrome | Congestive atelectasis | DaNang lung | Vietnam lung | Shock lung | Post-traumatic pulmonary insufficiency | Traumatic wet lung | Adult hyaline membrane disease | Acquired respiratory distress syndrome | Pulmonary capillary leak syndrome | ARDS - Adult respiratory distress syndrome | Acute respiratory distress syndrome (disorder) | Acute respiratory distress syndrome,SNOMEDCT ID:196153002 | SNOMEDCT ID:67782005,,,,,,,,,, +BMGC_DS09198,BMG_DS034681,Pulmonary insufficiency following shock,UMLS ID:C1368021,Adult respiratory distress syndrome | Congestive atelectasis | DaNang lung | Vietnam lung | Shock lung | Post-traumatic pulmonary insufficiency | Traumatic wet lung | Adult hyaline membrane disease | Acquired respiratory distress syndrome | Pulmonary capillary leak syndrome | ARDS - Adult respiratory distress syndrome | Acute respiratory distress syndrome (disorder) | Acute respiratory distress syndrome | Pulmonary insufficiency following shock | Pulmonary insufficiency following shock (disorder),SNOMEDCT ID:67782005 | SNOMEDCT ID:196151000,,,,,,,,,, +BMGC_DS09199,BMG_DS034682,,UMLS ID:C1368041,,,,,pancreatic somatostatinoma,MONDO:0002993,,,pancreatic somatostatinoma,DOID:4432,, +BMGC_DS09200,BMG_DS034683,,UMLS ID:C1368066,,,,,pancreatic gastrin-producing neuroendocrine tumor,MONDO:0003525,,,pancreatic gastrinoma,DOID:5580,, +BMGC_DS09201,BMG_DS034686,,UMLS ID:C1368295,,,,,,,,,basal cell carcinoma,DOID:2513,, +BMGC_DS09202,BMG_DS034687,,UMLS ID:C1368354,,,,,mixed neoplasm,MONDO:0021043,,,mixed cell type cancer,DOID:154,, +BMGC_DS09203,BMG_DS034689,,UMLS ID:C1368683,,,,,epithelial neoplasm,MONDO:0005626,,,carcinoma,DOID:305,, +BMGC_DS09204,BMG_DS034691,,UMLS ID:C1368816,,,,,sebaceous adenoma,MONDO:0002375,,,sebaceous adenoma,DOID:2648,, +BMGC_DS09205,BMG_DS034692,,UMLS ID:C1368871,,,,,childhood neoplasm,MONDO:0021079,,,,,, +BMGC_DS09206,BMG_DS034693,,UMLS ID:C1368888,,,,,adult cystic teratoma,MONDO:0004099,,,adult cystic teratoma,DOID:7079,, +BMGC_DS09207,BMG_DS034695,,UMLS ID:C1368903,,,,,cystic teratoma,MONDO:0002379,,,cystic teratoma,DOID:2660,, +BMGC_DS09208,BMG_DS034696,,UMLS ID:C1368910,,,,,mature teratoma,MONDO:0003517,,,mature teratoma,DOID:5566,, +BMGC_DS09209,BMG_DS034697,,UMLS ID:C1368918,,,,,primary peritoneal serous/papillary carcinoma,MONDO:0018368,,,peritoneal serous papillary adenocarcinoma,DOID:6228,, +BMGC_DS09210,BMG_DS034699,,UMLS ID:C1370419,,,,,ovarian granulosa cell tumor,MONDO:0023283,,,,,, +BMGC_DS09211,BMG_DS034700,,UMLS ID:C1370468,,,,,scrotal carcinoma,MONDO:0002650,,,scrotal carcinoma,DOID:3445,, +BMGC_DS09212,BMG_DS034701,,UMLS ID:C1370500,,,,,tanycytic ependymoma,MONDO:0003474,,,tanycytic ependymoma,DOID:5504,, +BMGC_DS09213,BMG_DS034702,,UMLS ID:C1370503,,,,,adult central nervous system embryonal carcinoma,MONDO:0004155,,,adult central nervous system embryonal carcinoma,DOID:7233,, +BMGC_DS09214,BMG_DS034703,,UMLS ID:C1370504,,,,,adult central nervous system germinoma,MONDO:0004383,,,adult central nervous system germinoma,DOID:7867,, +BMGC_DS09215,BMG_DS034704,,UMLS ID:C1370505,,,,,adult central nervous system choriocarcinoma,MONDO:0003952,,,adult central nervous system choriocarcinoma,DOID:6634,, +BMGC_DS09216,BMG_DS034705,,UMLS ID:C1370506,,,,,adult central nervous system teratoma,MONDO:0003731,,,adult central nervous system teratoma,DOID:6015,, +BMGC_DS09217,BMG_DS034706,,UMLS ID:C1370507,,,,,cerebellar liponeurocytoma,MONDO:0006131,,,cerebellar liponeurocytoma,DOID:6458,, +BMGC_DS09218,BMG_DS034707,,UMLS ID:C1370510,,,,,chordoid meningioma,MONDO:0004544,,,chordoid meningioma,DOID:8368,, +BMGC_DS09219,BMG_DS034708,,UMLS ID:C1370657,,,,,,,,,perineurioma,DOID:4697,, +BMGC_DS09220,BMG_DS034709,,UMLS ID:C1370658,,,,,intraneural perineurioma,MONDO:0015032,,,intraneural perineurioma,DOID:4696,, +BMGC_DS09221,BMG_DS034710,,UMLS ID:C1370659,,,,,plexiform schwannoma,MONDO:0002559,,,plexiform schwannoma,DOID:3206,, +BMGC_DS09222,BMG_DS034711,,UMLS ID:C1370701,,,,,clear cell hidradenoma,MONDO:0003447,,,clear cell hidradenoma,DOID:5443,, +BMGC_DS09223,BMG_DS034713,,UMLS ID:C1370800,,,,,bile duct adenocarcinoma,MONDO:0003193,,,bile duct adenocarcinoma,DOID:4896,, +BMGC_DS09224,BMG_DS034714,Interstitial emphysema,UMLS ID:C1370824,Interstitial emphysema | Soft tissue emphysema | Interstitial emphysema (morphologic abnormality),SNOMEDCT ID:11211003,Interstitial emphysema,ICD11 ID:CB40.3,interstitial emphysema,MONDO:0000923,,,pulmonary interstitial emphysema,DOID:10030,ICD10 ID:J98.2, +BMGC_DS09225,BMG_DS034715,,UMLS ID:C1370889,,,,,well-differentiated liposarcoma,MONDO:0005103,,,well-differentiated liposarcoma,DOID:5690,, +BMGC_DS09226,BMG_DS034716,,UMLS ID:C1370890,,,,,inflammatory liposarcoma,MONDO:0004510,,,inflammatory liposarcoma,DOID:8233,, +BMGC_DS09227,BMG_DS034717,,UMLS ID:C1377598,,,,,childhood germ cell brain tumor,MONDO:0004218,,,childhood germ cell brain tumor,DOID:7430,, +BMGC_DS09228,BMG_DS034718,,UMLS ID:C1377604,,,,,pediatric CNS choriocarcinoma,MONDO:0003953,,,childhood CNS choriocarcinoma,DOID:6639,, +BMGC_DS09229,BMG_DS034719,,UMLS ID:C1377605,,,,,childhood central nervous system embryonal carcinoma,MONDO:0004153,,,childhood CNS embryonal cell carcinoma,DOID:7231,, +BMGC_DS09230,BMG_DS034721,,UMLS ID:C1377613,,,,,central nervous system endodermal sinus tumor,MONDO:0003401,,,central nervous system endodermal sinus tumor,DOID:5343,, +BMGC_DS09231,BMG_DS034723,,UMLS ID:C1377785,,,,,nasal cavity carcinoma,MONDO:0003212,,,nasal cavity carcinoma,DOID:4931,, +BMGC_DS09232,BMG_DS034724,,UMLS ID:C1377843,,,,,periosteal osteogenic sarcoma,MONDO:0003895,,,periosteal osteogenic sarcoma,DOID:6489,, +BMGC_DS09233,BMG_DS034725,,UMLS ID:C1377844,,,,,mucinous cystadenofibroma,MONDO:0003886,,,mucinous cystadenofibroma,DOID:6468,, +BMGC_DS09234,BMG_DS034726,,UMLS ID:C1377850,,,,,papillary adenofibroma,MONDO:0003462,,,papillary adenofibroma,DOID:5479,, +BMGC_DS09235,BMG_DS034727,,UMLS ID:C1377853,,,,,clear cell cystadenofibroma,MONDO:0003693,,,clear cell cystadenofibroma,DOID:5895,, +BMGC_DS09236,BMG_DS034728,,UMLS ID:C1377904,,,,,testis refractory cancer,MONDO:0004401,,,testis refractory cancer,DOID:7928,, +BMGC_DS09237,BMG_DS034731,,UMLS ID:C1377913,,,,,pleural mesothelioma,MONDO:0003308,,,benign pleural mesothelioma,DOID:5157,, +BMGC_DS09238,BMG_DS034732,,UMLS ID:C1377914,,,,,adult brainstem gliosarcoma,MONDO:0003152,,,adult brainstem gliosarcoma,DOID:4812,, +BMGC_DS09239,BMG_DS034733,,UMLS ID:C1377915,,,,,adult brainstem mixed glioma,MONDO:0003705,,,adult brainstem mixed glioma,DOID:5921,, +BMGC_DS09240,BMG_DS034735,,UMLS ID:C1378050,,,,,oncocytic neoplasm,MONDO:0010795,,,,,,OMIM ID:553000 +BMGC_DS09241,BMG_DS034737,,UMLS ID:C1378511,,,,,,,,,acute leukemia,DOID:12603,, +BMGC_DS09242,BMG_DS034738,,UMLS ID:C1378703,,,,,renal carcinoma,MONDO:0005206,,,renal carcinoma,DOID:4451,, +BMGC_DS09243,BMG_DS034739,,UMLS ID:C1382025,,,,,sternum cancer,MONDO:0003273,,,sternum cancer,DOID:5090,, +BMGC_DS09244,BMG_DS034740,,UMLS ID:C1382026,,,,,sebaceous gland cancer,MONDO:0037735,,,sebaceous carcinoma,DOID:4840,, +BMGC_DS09245,BMG_DS034741,,UMLS ID:C1384403,,,,,cellular ependymoma,MONDO:0003470,,,cellular ependymoma,DOID:5500,, +BMGC_DS09246,BMG_DS034742,,UMLS ID:C1384406,,,,,secretory meningioma,MONDO:0003055,,,secretory meningioma,DOID:4588,, +BMGC_DS09247,BMG_DS034743,,UMLS ID:C1384408,,,,,microcystic meningioma,MONDO:0003058,,,microcystic meningioma,DOID:4594,, +BMGC_DS09248,BMG_DS034744,,UMLS ID:C1384416,,,,,leptomeningeal sarcoma,MONDO:0004330,,,leptomeninges sarcoma,DOID:7689,, +BMGC_DS09249,BMG_DS034748,Conn Syndrome,UMLS ID:C1384514,,,,,primary aldosteronism,MONDO:0001422,Hyperaldosteronism,MeSH ID:D006929,Conn's syndrome,DOID:12028,, +BMGC_DS09250,BMG_DS034749,Primary testicular failure,UMLS ID:C1384582,"Primary hypogonadism | Primary failure of the testes | Primary testicular failure | Primary hypogonadism (disorder) | Primary testicular failure | Primary testicular failure (disorder) | Male hypogonadism | Eunuchoidism hypogonadism | Primary gonadal failure | Testicular hypogonadism | Eunuchoidism | Testicular failure | Primary male hypogonadism | Male hypogonadism (disorder) | Eunuchoidism, hypogonadism | Primary testicular failure (disorder) | Primary testicular failure | Primary failure of the testes",SNOMEDCT ID:54238005 | SNOMEDCT ID:367333009 | SNOMEDCT ID:48723006 | SNOMEDCT ID:370997001,,,,,,,,,, +BMGC_DS09251,BMG_DS034750,Congenital absence of germinal epithelium of testes,UMLS ID:C1384583,Congenital absence of germinal epithelium of testes | Germinal aplasia | Sertoli-cell-only syndrome | Germinal cell absence | AZF - Azoospermia factor | Azoospermia factor | Gene deletion in AZF region of Y chromosome | Congenital absence of germinal epithelium of testes (disorder),SNOMEDCT ID:73465006,,,,,,,Sertoli cell-only syndrome,DOID:0050457,, +BMGC_DS09252,BMG_DS034753,Tinea cruris,UMLS ID:C1384589,Tinea cruris | Tinea inguinalis | Eczema marginatum | Tinea of groin | Tinea of perianal region | Dhobie itch | Jock itch | Ringworm of genitocrural region | Tinea cruris (disorder) | Dermatophytosis of groin | Dermatophytosis of groin and pubic area | Hebrae | Dermatophytosis of groin and perianal area | Dhobie itch | Hebrae | Eczema marginatum | Tinea cruris | Dermatophytosis of groin and pubic area | Dermatophytosis of groin and pubic area (disorder) | Dhobie itch | Dermatophytosis of groin and perianal area | Tinea cruris | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) | (Dermatophytosis of groin & perianal area) or (Dhobie itch) or (tinea cruris) (disorder) | Tinea cruris (disorder) | Tinea cruris | Tinea inguinalis | Eczema marginatum | Tinea cruris | Dhobie itch | Tinea of groin/perianal | (Tinea: [groin/perianal] or [cruris]) or (Dhobie itch) | (Tinea: [groin/perianal] or [cruris]) or (Dhobie itch) (disorder),SNOMEDCT ID:59089002 | SNOMEDCT ID:240697008 | SNOMEDCT ID:186989008 | SNOMEDCT ID:399029005 | SNOMEDCT ID:266216007,Genitocrural dermatophytosis,ICD11 ID:1F28.3,,,,,,,ICD10 ID:B35.6, +BMGC_DS09253,BMG_DS034756,Systemic onset juvenile chronic arthritis,UMLS ID:C1384600,Systemic onset juvenile chronic arthritis | Juvenile arthritis with systemic onset | Systemic onset juvenile chronic arthritis (disorder) | Systemic onset juvenile rheumatoid arthritis | Systemic juvenile idiopathic arthritis | Juvenile onset Still's disease,SNOMEDCT ID:201796004,,,,,,,,,, +BMGC_DS09254,BMG_DS034759,Cervical spondylosis,UMLS ID:C1384641,Cervical spondylosis | Cervical arthritis | Cervical spondylarthritis | Cervical spondylitis | CS - Cervical spondylosis | Cervical spondyloarthritis | Cervical spine degeneration | Cervical osteoarthritis | Osteoarthritis of cervical spine | Cervical spondylosis without myelopathy | Cervical spondylosis (disorder) | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) | Lumbar spondylosis | Sacral spondylosis | Osteoarthritis of spine | Arthritis - spine | Osteoarthritis - spine | Spondyloses | Degeneration of lumbar spine | Cervical spondylosis | Arthritis of spine | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) (disorder) | Osteoarthritis cervical spine | Cervical spondylosis without myelopathy | Osteoarthritis of cervical spine | Cervical spondylosis | Cervical spondylosis (& [without myelopathy]) or (osteoarthritis cervical spine) | Cervical spondylosis (& [without myelopathy]) or (osteoarthritis cervical spine) (disorder) | Cervical spondylosis (disorder) | Cervical spondylosis | CS - Cervical spondylosis | Cervical spine degeneration | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) | Arthritis - spine | Osteoarthritis - spine | Spondyloses | Osteoarthritis of spine | Sacral spondylosis | Degeneration of lumbar spine | Cervical spondylosis | Arthritis of spine | Lumbar spondylosis | (Spondyloses: [cervical] or [lumbar] or [sacral]) or (arthritis - spine) or (osteoarthritis - spine) (disorder),SNOMEDCT ID:123796003 | SNOMEDCT ID:268074002 | SNOMEDCT ID:202656009 | SNOMEDCT ID:387800004 | SNOMEDCT ID:156622007,,,"spondylosis, cervical",MONDO:0008481,,,,,,OMIM ID:184300 +BMGC_DS09255,BMG_DS034760,,UMLS ID:C1384666,,,,,hearing loss disorder,MONDO:0005365,,,,,, +BMGC_DS09256,BMG_DS034763,,UMLS ID:C1384678,,,,,bladder urothelial papilloma,MONDO:0044906,,,bladder transitional cell papilloma,DOID:6933,, +BMGC_DS09257,BMG_DS034773,Cystic Disease Of Lung,UMLS ID:C1384901,,,,,,,,MeSH ID:C563237,,,, +BMGC_DS09258,BMG_DS034789,Aneurysm Of Interventricular Septum,UMLS ID:C1387721,,,,,interventricular septum aneurysm,MONDO:0007112,,MeSH ID:C563239,,,,OMIM ID:105805 +BMGC_DS09259,BMG_DS034790,Angiostrongylus costaricensis infection,UMLS ID:C1387797,,,,,,,,MeSH ID:C536369,angiostrongyliasis,DOID:0050256,, +BMGC_DS09260,BMG_DS034795,,UMLS ID:C1388299,,,,,breast apocrine adenoma,MONDO:0004273,,,breast apocrine adenoma,DOID:7540,, +BMGC_DS09261,BMG_DS034799,,UMLS ID:C1389018,,,,,atrioventricular septal defect,MONDO:0859565,,,,,,OMIM ID:606215 +BMGC_DS09262,BMG_DS034802,Peroneal muscle atrophy,UMLS ID:C1389118,,,,,,,,,,,,OMIM ID:MTHU041535 +BMGC_DS09263,BMG_DS034819,Congenital cardiomyopathy,UMLS ID:C1391997,,,Endocardial fibroelastosis,ICD11 ID:BC43.3,,,,,,,ICD10 ID:I42.4, +BMGC_DS09264,BMG_DS034840,Intrinsic Factor Deficiency,UMLS ID:C1394891,,,,,hereditary intrinsic factor deficiency,MONDO:0009852,,MeSH ID:C563242,,,,OMIM ID:261000 +BMGC_DS09265,BMG_DS034847,,UMLS ID:C1395852,,,,,polydactyly of a biphalangeal thumb,MONDO:0008269,,,,,,OMIM ID:174400 +BMGC_DS09266,BMG_DS034872,Ectopic rhythm,UMLS ID:C1399226,Ectopic rhythm | Ectopic rhythm (disorder),SNOMEDCT ID:29320008,,,,,,,,,, +BMGC_DS09267,BMG_DS034874,HEMIFACIAL HYPERPLASIA,UMLS ID:C1399354,,,,,hemifacial hypertrophy,MONDO:0007590,,,,,,OMIM ID:133900 +BMGC_DS09268,BMG_DS034912,Retinitis punctata albescens (disorder),UMLS ID:C1405854,Retinitis punctata albescens (disorder) | Retinitis punctata albescens,SNOMEDCT ID:715562001,,,retinitis punctata albescens,MONDO:0018877,,,,,, +BMGC_DS09269,BMG_DS034941,,UMLS ID:C1409763,,,,,"incisors, shovel-shaped",MONDO:0007826,,,,,,OMIM ID:147400 +BMGC_DS09270,BMG_DS034952,Mesenteric vascular insufficiency,UMLS ID:C1412000,Mesenteric vascular insufficiency | Mesenteric vascular insufficiency (disorder),SNOMEDCT ID:24988007,"Chronic vascular disorders of intestine, unspecified",ICD11 ID:DD31.Z,,,,,,,ICD10 ID:K55.1, +BMGC_DS09271,BMG_DS034954,,UMLS ID:C1412004,,,,,pineal body neoplasm,MONDO:0021232,,,pineal gland cancer,DOID:5032,, +BMGC_DS09272,BMG_DS034956,,UMLS ID:C1412016,,,,,sweat gland carcinoma,MONDO:0005524,,,sweat gland carcinoma,DOID:5667,, +BMGC_DS09273,BMG_DS034958,,UMLS ID:C1412036,,,,,anal squamous cell carcinoma,MONDO:0006082,,,anal squamous cell carcinoma,DOID:5525,, +BMGC_DS09274,BMG_DS034959,,UMLS ID:C1412037,,,,,anal margin squamous cell carcinoma,MONDO:0001470,,,anal margin squamous cell carcinoma,DOID:12239,, +BMGC_DS09275,BMG_DS034960,Paine syndrome,UMLS ID:C1412041,,,,,Paine syndrome,MONDO:0010707,,MeSH ID:C538101,,,,OMIM ID:311400 +BMGC_DS09276,BMG_DS034961,"DEAFNESS, AUTOSOMAL RECESSIVE 25",UMLS ID:C1414017,,,,,autosomal recessive nonsyndromic hearing loss 25,MONDO:0013210,,,,,,OMIM ID:613283 | OMIM ID:613285 +BMGC_DS09277,BMG_DS034962,"Dystonia 6, torsion",UMLS ID:C1414216,,,,,torsion dystonia 6,MONDO:0011264,,MeSH ID:C538003,,,,OMIM ID:602629 +BMGC_DS09278,BMG_DS034964,"HETEROTAXY, VISCERAL, 2, AUTOSOMAL",UMLS ID:C1415817,,,,,"heterotaxy, visceral, 2, autosomal",MONDO:0011546,,,,,,OMIM ID:605376 | OMIM ID:605194 +BMGC_DS09279,BMG_DS034965,RETINITIS PIGMENTOSA 23,UMLS ID:C1419610,,,,,retinitis pigmentosa 23,MONDO:0010320,,,,,,OMIM ID:300170 | OMIM ID:300424 +BMGC_DS09280,BMG_DS034966,RETINITIS PIGMENTOSA 28,UMLS ID:C1419614,,,,,retinitis pigmentosa 28,MONDO:0011630,,,,,,OMIM ID:606068 | OMIM ID:613596 +BMGC_DS09281,BMG_DS034968,CONE-ROD DYSTROPHY 9,UMLS ID:C1423873,,,,,cone-rod dystrophy 9,MONDO:0013002,,,cone-rod dystrophy 9,DOID:0111020,,OMIM ID:602713 | OMIM ID:612775 +BMGC_DS09282,BMG_DS034975,Solar dermatitis,UMLS ID:C1442835,Sunburn | Solar dermatitis | Sunburn (disorder),SNOMEDCT ID:23346002,,,,,,,,,ICD10 ID:L57.8, +BMGC_DS09283,BMG_DS034977,Hypervitaminosis D,UMLS ID:C1442839,Hypervitaminosis D | Vitamin D intoxication | Hypervitaminosis D (disorder) | Vitamin D excess | Vitamin D intoxication | Hypervitaminosis D | Hypervitaminosis D (disorder),SNOMEDCT ID:27712000 | SNOMEDCT ID:190969000,Hypervitaminosis D,ICD11 ID:5B90.2,hypervitaminosis D,MONDO:0004937,,,hypervitaminosis D,DOID:9971,ICD10 ID:E67.3, +BMGC_DS09284,BMG_DS034979,Lumbar Osteoarthritis,UMLS ID:C1442869,,,,,,,"Osteoarthritis, Spine",MeSH ID:D055013,,,, +BMGC_DS09285,BMG_DS034983,Exostoses,UMLS ID:C1442903,,,,,exostosis,MONDO:0002181,Exostoses,MeSH ID:D005096,exostosis,DOID:203,,OMIM ID:MTHU027312 +BMGC_DS09286,BMG_DS034987,"Muscular Dystrophy, Cardiac Type",UMLS ID:C1442927,,,,,"muscular dystrophy, cardiac type",MONDO:0010675,,MeSH ID:C563247,,,,OMIM ID:309930 +BMGC_DS09287,BMG_DS034988,"Chondrodysplasia Punctata, Autosomal Dominant",UMLS ID:C1442935,,,,,autosomal dominant chondrodysplasia punctata,MONDO:0007321,,MeSH ID:C563248,,,,OMIM ID:118650 +BMGC_DS09288,BMG_DS034992,Actinic porokeratosis,UMLS ID:C1442958,Disseminated superficial actinic porokeratosis | Actinic porokeratosis | DSAP - Disseminated superficial actinic porokeratosis | Disseminated superficial actinic porokeratosis (disorder) | Actinic keratosis | Solar keratosis | Actinic porokeratosis | Senile keratoma | Actinic keratosis (morphologic abnormality) | Keratinocytic intraepidermal neoplasia | Actinic cheilitis | Solar keratosis of lip | Actinic cheilitis (disorder),SNOMEDCT ID:41495000 | SNOMEDCT ID:856006 | SNOMEDCT ID:46795000,,,,,,,,,, +BMGC_DS09289,BMG_DS034993,Avascular necrosis of the capital femoral epiphysis,UMLS ID:C1442965,Juvenile osteochondrosis of hip AND/OR pelvis (disorder) | Juvenile osteochondritis of hip AND/OR pelvis | Pseudocoxalgia | Legg-Calve-Perthes disease | Perthes disease | Perthes disease of hip | Aseptic necrosis of capital femoral epiphysis | Osteonecrosis of capital femoral epiphysis | Avascular necrosis of capital femoral epiphysis (disorder) | Avascular necrosis of capital femoral epiphysis,SNOMEDCT ID:15739006 | SNOMEDCT ID:111255008,,,Legg-Calve-Perthes disease,MONDO:0007885,,,,,,OMIM ID:150600 +BMGC_DS09290,BMG_DS034995,Alcoholic liver damage,UMLS ID:C1442981,Alcoholic liver damage | Alcoholic liver disease | ALD - Alcoholic liver disease | Alcoholic liver damage (disorder),SNOMEDCT ID:41309000,,,,,,,,,, +BMGC_DS09291,BMG_DS034997,"Hyperglycinemia with ketosis and leukopenia, types I and II",UMLS ID:C1442992,"PCC - Propionyl-CoA carboxylase deficiency | Hyperglycinemia with ketosis AND leukopenia, types I AND/OR II | Propionyl-CoA carboxylase deficiency | Hyperglycinaemia with ketosis AND leucopenia, types I AND/OR II | Propionyl-CoA carboxylase deficiency (disorder) | Propionic acidaemia, type I | Ketotic glycinaemia, types I and II | Propionic acidaemia, type II | Hyperglycinaemia with ketosis and leucopenia, types I and II | Hyperglycinemia with ketosis and leukopenia, types I and II | Propionic acidemia, type I | Propionic acidemia, type II | Ketotic glycinemia, types I and II | Propionic acidaemia, type I | Propionic acidaemia, type II | Hyperglycinaemia with ketosis and leucopenia, types I and II | Ketotic glycinaemia, types I and II | Propionic acidemia, type I | Hyperglycinemia with ketosis and leukopenia, types I and II | Ketotic glycinemia, types I and II | Propionic acidemia, type II | Propionyl-CoA carboxylase deficiency (disorder) | Propionyl-CoA carboxylase deficiency | Propionic acidemia | Propionic acidaemia | Ketotic glycinaemia | Ketotic hyperglycinaemia | Hyperglycinaemia with ketosis and leucopenia | Hyperglycinemia with ketosis and leukopenia | Ketotic glycinemia | Ketotic hyperglycinemia | Propionic acidemia (disorder) | Propionyl-CoA carboxylase deficiency | PCC - Propionyl-CoA carboxylase deficiency | Propionic aciduria | Propionyl-CoA carboxylase deficiency | Propionyl-CoA carboxylase deficiency (disorder)",SNOMEDCT ID:360364008 | SNOMEDCT ID:367417005 | SNOMEDCT ID:69080001 | SNOMEDCT ID:18979005,,,,,,,,,, +BMGC_DS09292,BMG_DS035009,Carnitine Acetyltransferase Deficiency,UMLS ID:C1443228,,,,,carnitine acetyltransferase deficiency,MONDO:0011642,,MeSH ID:C563249,,,,OMIM ID:606175 +BMGC_DS09293,BMG_DS035035,Chronic Q Fever,UMLS ID:C1443892,,,,,,,Q Fever,MeSH ID:D011778,,,, +BMGC_DS09294,BMG_DS035049,Neomycin sulfate allergy,UMLS ID:C1443961,Neomycin sulfate allergy (disorder) | Neomycin sulphate allergy | Neomycin sulfate allergy,SNOMEDCT ID:409640001,,,,,,,neomycin sulfate allergic contact dermatitis,DOID:0040067,, +BMGC_DS09295,BMG_DS035115,"Juvenile idiopathic arthritis, extended oligoarthritis",UMLS ID:C1444843,"Juvenile idiopathic arthritis, extended oligoarthritis (disorder) | Juvenile idiopathic arthritis, extended oligoarthritis",SNOMEDCT ID:410800006,,,,,,,,,, +BMGC_DS09296,BMG_DS035128,"Cardiomyopathy, Familial Idiopathic",UMLS ID:C1449563,,,,,dilated cardiomyopathy 1A,MONDO:0007269,"Cardiomyopathy, Dilated",MeSH ID:D002311,,,,OMIM ID:115200 +BMGC_DS09297,BMG_DS035129,CADASILM,UMLS ID:C1449626,,,,,,,CADASIL,MeSH ID:D046589,,,, +BMGC_DS09298,BMG_DS035130,Sphincter of Oddi Stenosis,UMLS ID:C1449630,,,,,,,Sphincter of Oddi Dysfunction,MeSH ID:D046628,,,, +BMGC_DS09299,BMG_DS035131,Gallbladder Dyskinesia,UMLS ID:C1449631,,,,,,,Biliary Dyskinesia,MeSH ID:D001657,,,, +BMGC_DS09300,BMG_DS035132,Primary Peritonitis,UMLS ID:C1449646,,,,,,,Peritonitis,MeSH ID:D010538,,,, +BMGC_DS09301,BMG_DS035133,Secondary Peritonitis,UMLS ID:C1449647,,,,,,,Peritonitis,MeSH ID:D010538,,,, +BMGC_DS09302,BMG_DS035134,Endocrine Breast Diseases,UMLS ID:C1449718,,,,,,,Breast Diseases,MeSH ID:D001941,,,, +BMGC_DS09303,BMG_DS035135,Adolescent Gynecomastia,UMLS ID:C1449720,,,,,,,Gynecomastia,MeSH ID:D006177,,,, +BMGC_DS09304,BMG_DS035136,Infant Gynecomastia,UMLS ID:C1449721,,,,,infant gynecomastia,MONDO:0001323,Gynecomastia,MeSH ID:D006177,infant gynecomastia,DOID:11603,, +BMGC_DS09305,BMG_DS035139,"Pseudohypoaldosteronism, Type I, Autosomal Dominant",UMLS ID:C1449842,,,,,autosomal dominant pseudohypoaldosteronism type 1,MONDO:0008329,Pseudohypoaldosteronism,MeSH ID:D011546,,,,OMIM ID:177735 +BMGC_DS09306,BMG_DS035140,"Pseudohypoaldosteronism, Type I, Autosomal Recessive",UMLS ID:C1449843,,,,,,,Pseudohypoaldosteronism,MeSH ID:D011546,autosomal dominant pseudohypoaldosteronism type 1,DOID:0060855,, +BMGC_DS09307,BMG_DS035141,"Pseudohypoaldosteronism, Type II",UMLS ID:C1449844,,,,,pseudohypoaldosteronism type 2,MONDO:0019162,Pseudohypoaldosteronism,MeSH ID:D011546,,,, +BMGC_DS09308,BMG_DS035142,Erythematotelangiectatic Rosacea,UMLS ID:C1449852,,,,,,,Rosacea,MeSH ID:D012393,,,, +BMGC_DS09309,BMG_DS035143,Papulopustular Rosacea,UMLS ID:C1449853,,,,,,,Rosacea,MeSH ID:D012393,,,, +BMGC_DS09310,BMG_DS035144,Phymatous Rosacea,UMLS ID:C1449854,,,,,,,Rosacea,MeSH ID:D012393,,,, +BMGC_DS09311,BMG_DS035145,Autosomal Recessive Emery-Dreifuss Muscular Dystrophy,UMLS ID:C1450051,,,,,,,"Muscular Dystrophy, Emery-Dreifuss",MeSH ID:D020389,,,, +BMGC_DS09312,BMG_DS035146,Tibial Muscular Dystrophy,UMLS ID:C1450052,,,,,,,Distal Myopathies,MeSH ID:D049310,,,, +BMGC_DS09313,BMG_DS035153,Acute fatty liver of pregnancy,UMLS ID:C1455728,Necrosis of liver of pregnancy | Necrosis of liver of pregnancy (disorder) | Acute fatty liver of pregnancy (disorder) | Acute fatty liver of pregnancy | AFLP - acute fatty liver of pregnancy | Nonalcoholic fatty liver during pregnancy,SNOMEDCT ID:91162000 | SNOMEDCT ID:716379000,,,acute fatty liver of pregnancy,MONDO:0016573,,MeSH ID:C537957,,,, +BMGC_DS09314,BMG_DS035160,Vagotonia,UMLS ID:C1455782,Increased gastric tonus | Vagotonia | Gastric hypertonus | Increased gastric tonus (finding),SNOMEDCT ID:18644006,,,,,,,,,, +BMGC_DS09315,BMG_DS035164,,UMLS ID:C1456145,,,,,smooth surface dental caries,MONDO:0005592,,,dental caries,DOID:216,, +BMGC_DS09316,BMG_DS035165,,UMLS ID:C1456162,,,,,dentine erosion,MONDO:0001762,,,dentine erosion,DOID:13629,, +BMGC_DS09317,BMG_DS035166,,UMLS ID:C1456163,,,,,pulp erosion,MONDO:0001890,,,pulp erosion,DOID:14140,, +BMGC_DS09318,BMG_DS035168,,UMLS ID:C1456167,,,,,,,,,internal pathological resorption,DOID:13239,, +BMGC_DS09319,BMG_DS035179,Narcolepsy without cataplexy,UMLS ID:C1456240,Narcolepsy without cataplexy | Narcolepsy without cataplexy (disorder),SNOMEDCT ID:91521000119104,,,narcolepsy without cataplexy,MONDO:0019371,,,,,ICD10 ID:G47.419, +BMGC_DS09320,BMG_DS035181,Midline cystocele,UMLS ID:C1456248,Midline cystocele (disorder) | Midline cystocele,SNOMEDCT ID:423633003,,,midline cystocele,MONDO:0001886,,,midline cystocele,DOID:14131,, +BMGC_DS09321,BMG_DS035182,,UMLS ID:C1456251,,,,,perineocele,MONDO:0001559,,,perineocele,DOID:12637,, +BMGC_DS09322,BMG_DS035183,,UMLS ID:C1456255,,,,,pelvic muscle wasting,MONDO:0001327,,,pelvic muscle wasting,DOID:11629,, +BMGC_DS09323,BMG_DS035187,,UMLS ID:C1456268,,,,,,,,,non-renal secondary hyperparathyroidism,DOID:13575,, +BMGC_DS09324,BMG_DS035190,,UMLS ID:C1456283,,,,,,,,,alcohol-induced mental disorder,DOID:251,, +BMGC_DS09325,BMG_DS035200,Still's disease with juvenile onset and/or adult onset,UMLS ID:C1456792,Still's disease with juvenile onset and/or adult onset (disorder) | Still's disease with juvenile onset and/or adult onset | Still's disease | Still disease with juvenile onset and/or adult onset,SNOMEDCT ID:410794002,,,,,,,,,, +BMGC_DS09326,BMG_DS035202,Ureteral Calculi,UMLS ID:C1456865,,,,,,,Ureteral Calculi,MeSH ID:D014514,,,, +BMGC_DS09327,BMG_DS035204,Alpha plus thalassemia,UMLS ID:C1456873,Alpha plus thalassemia | Alpha plus thalassaemia | Alpha plus thalassemia (disorder) | Alpha thalassaemia 2 | Alpha thalassemia 2,SNOMEDCT ID:36467003,,,,,,,,,, +BMGC_DS09328,BMG_DS035207,Congenital hypogammaglobulinemia,UMLS ID:C1457897,Bruton's agammaglobulinaemia | Congenital hypogammaglobulinaemia | Congenital sex-linked agammaglobulinaemia | Congenital X-linked agammaglobulinaemia | Bruton's agammaglobulinemia | Congenital sex-linked agammaglobulinemia | Congenital X-linked agammaglobulinemia | Congenital hypogammaglobulinemia | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] | Hypogammaglobulinemia: [congenital] or [agammaglobulinemia: (Bruton's) or (congenital sex-linked & [X-linked])] | Hypogammaglobulinaemia: [congenital] or [agammaglobulinaemia: (Bruton's) or (congenital sex-linked & [X-linked])] (disorder) | Congenital hypogammaglobulinaemia | Congenital hypogammaglobulinemia | Congenital hypogammaglobulinemia (finding),SNOMEDCT ID:190983003 | SNOMEDCT ID:267460002,,,,,,,congenital hypogammaglobulinemia,DOID:14177,, +BMGC_DS09329,BMG_DS035212,,UMLS ID:C1458155,,,,,breast neoplasm,MONDO:0021100,,,,,, +BMGC_DS09330,BMG_DS035218,Testotoxicosis,UMLS ID:C1504412,,,,,,,"Puberty, Precocious",MeSH ID:D011629,familial male-limited precocious puberty,DOID:0111545,, +BMGC_DS09331,BMG_DS035227,Stenosis of middle cerebral artery,UMLS ID:C1504568,Stenosis of middle cerebral artery (disorder) | Stenosis of middle cerebral artery,SNOMEDCT ID:21290001000004104,,,,,,,,,, +BMGC_DS09332,BMG_DS035228,,UMLS ID:C1507149,,,,,partial chromosome Y deletion,MONDO:0015607,,,,,, +BMGC_DS09333,BMG_DS035229,,UMLS ID:C1509147,,,,,histiocytoma,MONDO:0005509,,,histiocytoma,DOID:4231,, +BMGC_DS09334,BMG_DS035230,,UMLS ID:C1509148,,,,,lung sclerosing hemangioma,MONDO:0006280,,,sclerosing hemangioma,DOID:495,, +BMGC_DS09335,BMG_DS035232,,UMLS ID:C1510415,,,,,,,,,osteosclerotic myeloma,DOID:9541,, +BMGC_DS09336,BMG_DS035233,Gait Apraxia,UMLS ID:C1510417,,,,,gait apraxia,MONDO:0006766,Gait Apraxia,MeSH ID:D020235,gait apraxia,DOID:4260,, +BMGC_DS09337,BMG_DS035236,Entrapment Neuropathies,UMLS ID:C1510429,,,,,nerve compression syndrome,MONDO:0003615,Nerve Compression Syndromes,MeSH ID:D009408,nerve compression syndrome,DOID:573,, +BMGC_DS09338,BMG_DS035237,Chronic Actinic Dermatitis,UMLS ID:C1510437,,,,,,,Photosensitivity Disorders,MeSH ID:D010787,,,, +BMGC_DS09339,BMG_DS035240,,UMLS ID:C1510455,,,,,acrocephalosyndactyly,MONDO:0019796,,,acrocephalosyndactylia,DOID:12960,, +BMGC_DS09340,BMG_DS035241,Orofaciodigital Syndrome I,UMLS ID:C1510460,,,,,orofaciodigital syndrome I,MONDO:0010702,Orofaciodigital Syndromes,MeSH ID:D009958,orofaciodigital syndrome I,DOID:0060316,,OMIM ID:311200 +BMGC_DS09341,BMG_DS035242,Vitamin Deficiency,UMLS ID:C1510471,,,,,vitamin deficiency disorder,MONDO:0024298,Avitaminosis,MeSH ID:D001361,,,, +BMGC_DS09342,BMG_DS035243,,UMLS ID:C1510472,,,,,drug dependence,MONDO:0005303,,,,,, +BMGC_DS09343,BMG_DS035244,Diverticulosis,UMLS ID:C1510475,Diverticulum | Diverticulum (morphologic abnormality),SNOMEDCT ID:31113003,,,,,Diverticulum,MeSH ID:D004240,,,,OMIM ID:MTHU014943 +BMGC_DS09344,BMG_DS035245,Neuralgic Amyotrophy,UMLS ID:C1510479,,,,,neuralgic amyotrophy,MONDO:0017362,Brachial Plexus Neuritis,MeSH ID:D020968,amyotrophic neuralgia,DOID:10383,, +BMGC_DS09345,BMG_DS035246,"Cerebral Amyloid Angiopathy, Hereditary",UMLS ID:C1510489,,,,,cerebral amyloid angiopathy,MONDO:0005620,"Cerebral Amyloid Angiopathy, Familial",MeSH ID:D028243,cerebral amyloid angiopathy,DOID:9246,, +BMGC_DS09346,BMG_DS035247,,UMLS ID:C1510502,,,,,oncocytic adenoma,MONDO:0003424,,,oxyphilic adenoma,DOID:5389,, +BMGC_DS09347,BMG_DS035250,,UMLS ID:C1510586,,,,,autism spectrum disorder,MONDO:0005258,,,,,, +BMGC_DS09348,BMG_DS035251,Absolute anemia,UMLS ID:C1510654,Anemia | Anaemia | Anemia (disorder) | Anemia | Anaemia | Absolute anemia | Absolute anaemia | Anemia (disorder),SNOMEDCT ID:64593003 | SNOMEDCT ID:271737000,,,,,,,,,, +BMGC_DS09349,BMG_DS035252,,UMLS ID:C1510778,,,,,adenocarcinofibroma,MONDO:0002991,,,malignant adenofibroma,DOID:4422,, +BMGC_DS09350,BMG_DS035253,,UMLS ID:C1510784,,,,,epididymal adenocarcinoma,MONDO:0001017,,,epididymis adenocarcinoma,DOID:10368,, +BMGC_DS09351,BMG_DS035255,,UMLS ID:C1510795,,,,,breast adenomyoepithelioma,MONDO:0002066,,,breast adenomyoepithelioma,DOID:1642,, +BMGC_DS09352,BMG_DS035256,,UMLS ID:C1510796,,,,,adenosquamous breast carcinoma,MONDO:0003548,,,adenosquamous breast carcinoma,DOID:5623,, +BMGC_DS09353,BMG_DS035257,,UMLS ID:C1510961,,,,,atypical neurofibroma,MONDO:0003306,,,atypical neurofibroma,DOID:5153,, +BMGC_DS09354,BMG_DS035258,,UMLS ID:C1511047,,,,,Bartholin gland adenoid cystic carcinoma,MONDO:0003187,,,Bartholin's gland adenoid cystic carcinoma,DOID:4879,, +BMGC_DS09355,BMG_DS035259,,UMLS ID:C1511048,,,,,Bartholin gland adenoma,MONDO:0003419,,,Bartholin's gland adenoma,DOID:5382,, +BMGC_DS09356,BMG_DS035260,,UMLS ID:C1511049,,,,,Bartholin gland adenomyoma,MONDO:0003909,,,Bartholin's gland adenomyoma,DOID:6518,, +BMGC_DS09357,BMG_DS035261,,UMLS ID:C1511050,,,,,Bartholin gland adenosquamous carcinoma,MONDO:0003555,,,Bartholin's gland adenosquamous carcinoma,DOID:5630,, +BMGC_DS09358,BMG_DS035262,,UMLS ID:C1511051,,,,,Bartholin gland small cell carcinoma,MONDO:0004120,,,Bartholin's gland small cell carcinoma,DOID:7140,, +BMGC_DS09359,BMG_DS035263,,UMLS ID:C1511052,,,,,bartholin gland squamous cell carcinoma,MONDO:0004053,,,Bartholin's gland squamous cell carcinoma,DOID:6961,, +BMGC_DS09360,BMG_DS035264,,UMLS ID:C1511053,,,,,Bartholin gland transitional cell carcinoma,MONDO:0002828,,,Bartholin's gland transitional cell carcinoma,DOID:3998,, +BMGC_DS09361,BMG_DS035265,,UMLS ID:C1511063,,,,,cervical basaloid carcinoma,MONDO:0004088,,,cervical basaloid squamous cell carcinoma,DOID:7046,, +BMGC_DS09362,BMG_DS035267,,UMLS ID:C1511091,,,,,benign mixed tumor of the vulva,MONDO:0002199,,,chondroid syringoma of the vulva,DOID:2078,, +BMGC_DS09363,BMG_DS035269,,UMLS ID:C1511106,,,,,benign vaginal mixed epithelial and mesenchymal neoplasm,MONDO:0001731,,,benign vaginal carcinosarcoma,DOID:135,, +BMGC_DS09364,BMG_DS035270,,UMLS ID:C1511107,,,,,benign vaginal mixed tumor,MONDO:0003903,,,vaginal spindle cell epithelioma,DOID:6505,, +BMGC_DS09365,BMG_DS035271,,UMLS ID:C1511187,,,,,bladder diffuse clear cell adenocarcinoma,MONDO:0003810,,,bladder diffuse clear cell adenocarcinoma,DOID:6210,, +BMGC_DS09366,BMG_DS035272,,UMLS ID:C1511188,,,,,bladder colonic type adenocarcinoma,MONDO:0003938,,,bladder colonic type adenocarcinoma,DOID:6594,, +BMGC_DS09367,BMG_DS035273,,UMLS ID:C1511189,,,,,bladder hepatoid adenocarcinoma,MONDO:0004459,,,bladder hepatoid adenocarcinoma,DOID:8097,, +BMGC_DS09368,BMG_DS035275,,UMLS ID:C1511192,,,,,bladder mixed adenocarcinoma,MONDO:0004458,,,bladder mixed adenocarcinoma,DOID:8096,, +BMGC_DS09369,BMG_DS035276,,UMLS ID:C1511193,,,,,bladder colloid adenocarcinoma,MONDO:0002750,,,bladder colloid adenocarcinoma,DOID:3710,, +BMGC_DS09370,BMG_DS035277,,UMLS ID:C1511196,,,,,bladder papillary clear cell adenocarcinoma,MONDO:0004445,,,bladder papillary clear cell adenocarcinoma,DOID:8051,, +BMGC_DS09371,BMG_DS035278,,UMLS ID:C1511197,,,,,bladder papillary urothelial neoplasm,MONDO:0003442,,,bladder papillary transitional cell neoplasm,DOID:5432,, +BMGC_DS09372,BMG_DS035280,,UMLS ID:C1511203,,,,,bladder tubulo-cystic clear cell adenocarcinoma,MONDO:0004444,,,bladder tubulo-cystic clear cell adenocarcinoma,DOID:8050,, +BMGC_DS09373,BMG_DS035281,,UMLS ID:C1511204,,,,,,,,,bladder urachal adenocarcinoma,DOID:7694,, +BMGC_DS09374,BMG_DS035282,,UMLS ID:C1511206,,,,,bladder urachal squamous cell carcinoma,MONDO:0003714,,,bladder urachal squamous cell carcinoma,DOID:5957,, +BMGC_DS09375,BMG_DS035283,,UMLS ID:C1511207,,,,,bladder urachal urothelial carcinoma,MONDO:0004163,,,bladder urachal urothelial carcinoma,DOID:7244,, +BMGC_DS09376,BMG_DS035284,,UMLS ID:C1511208,,,,,bladder verrucous carcinoma,MONDO:0002759,,,bladder verrucous squamous cell carcinoma,DOID:3741,, +BMGC_DS09377,BMG_DS035285,,UMLS ID:C1511275,,,,,botryoid-type embryonal rhabdomyosarcoma of the vagina,MONDO:0003994,,,vagina botryoid rhabdomyosarcoma,DOID:6788,, +BMGC_DS09378,BMG_DS035286,,UMLS ID:C1511283,,,,,breast adenomyoepithelial adenosis,MONDO:0004181,,,breast adenomyoepithelial adenosis,DOID:7312,, +BMGC_DS09379,BMG_DS035287,,UMLS ID:C1511284,,,,,breast angiomatosis,MONDO:0002064,,,breast angiomatosis,DOID:1637,, +BMGC_DS09380,BMG_DS035288,,UMLS ID:C1511305,,,,,breast columnar cell mucinous carcinoma,MONDO:0004472,,,breast columnar cell mucinous carcinoma,DOID:8130,, +BMGC_DS09381,BMG_DS035290,,UMLS ID:C1511307,,,,,breast ductal adenoma,MONDO:0004270,,,breast ductal adenoma,DOID:7538,, +BMGC_DS09382,BMG_DS035292,,UMLS ID:C1511312,,,,,breast granular cell tumor,MONDO:0002487,,,breast granular cell tumor,DOID:3011,, +BMGC_DS09383,BMG_DS035293,,UMLS ID:C1511313,,,,,breast hemangiopericytoma,MONDO:0003411,,,breast hemangiopericytoma,DOID:5370,, +BMGC_DS09384,BMG_DS035294,,UMLS ID:C1511316,,,,,breast large cell neuroendocrine carcinoma,MONDO:0003959,,,breast large cell neuroendocrine carcinoma,DOID:6657,, +BMGC_DS09385,BMG_DS035296,,UMLS ID:C1511318,,,,,breast mucinous cystadenocarcinoma,MONDO:0002705,,,breast mucinous cystadenocarcinoma,DOID:3609,, +BMGC_DS09386,BMG_DS035297,,UMLS ID:C1511319,,,,,breast myoepithelial tumor,MONDO:0002483,,,breast myoepithelial neoplasm,DOID:3004,, +BMGC_DS09387,BMG_DS035299,,UMLS ID:C1511339,,,,,bulbomembranous urethral cancer,MONDO:0004516,,,bulbomembranous urethral cancer,DOID:8259,, +BMGC_DS09388,BMG_DS035300,,UMLS ID:C1511934,,,,,differentiating neuroblastoma,MONDO:0002899,,,differentiating neuroblastoma,DOID:4160,, +BMGC_DS09389,BMG_DS035303,,UMLS ID:C1512418,,,,,hereditary fallopian tube carcinoma,MONDO:0004166,,,familiar fallopian tube carcinoma,DOID:7266,, +BMGC_DS09390,BMG_DS035304,,UMLS ID:C1512419,,,,,familial melanoma,MONDO:0018961,,,familial melanoma,DOID:6846,, +BMGC_DS09391,BMG_DS035306,,UMLS ID:C1512709,,,,,chronic lymphoproliferative disorder of NK-cells,MONDO:0004234,,,chronic NK-cell lymphocytosis,DOID:7465,, +BMGC_DS09392,BMG_DS035307,,UMLS ID:C1512736,,,,,infiltrating bladder lymphoepithelioma-like carcinoma,MONDO:0004299,,,infiltrating bladder lymphoepithelioma-like carcinoma,DOID:7600,, +BMGC_DS09393,BMG_DS035308,,UMLS ID:C1512737,,,,,"infiltrating bladder urothelial carcinoma, clear cell variant",MONDO:0003889,,,clear cell variant infiltrating bladder urothelial carcinoma,DOID:6476,, +BMGC_DS09394,BMG_DS035309,,UMLS ID:C1512738,,,,,lipid-cell variant infiltrating bladder urothelial carcinoma,MONDO:0004415,,,lipid-cell variant infiltrating bladder urothelial carcinoma,DOID:7967,, +BMGC_DS09395,BMG_DS035310,,UMLS ID:C1512739,,,,,,,,,lymphoma-like variant infiltrating bladder urothelial carcinoma,DOID:7972,, +BMGC_DS09396,BMG_DS035311,,UMLS ID:C1512740,,,,,microcystic variant infiltrating bladder urothelial carcinoma,MONDO:0004418,,,microcystic variant infiltrating bladder urothelial carcinoma,DOID:7971,, +BMGC_DS09397,BMG_DS035312,,UMLS ID:C1512741,,,,,nested variant infiltrating bladder urothelial carcinoma,MONDO:0004417,,,nested variant infiltrating bladder urothelial carcinoma,DOID:7969,, +BMGC_DS09398,BMG_DS035313,,UMLS ID:C1512742,,,,,plasmacytoid variant infiltrating bladder urothelial carcinoma,MONDO:0004416,,,plasmacytoid variant infiltrating bladder urothelial carcinoma,DOID:7968,, +BMGC_DS09399,BMG_DS035314,,UMLS ID:C1512743,,,,,infiltrating bladder urothelial carcinoma sarcomatoid variant,MONDO:0004278,,,infiltrating bladder urothelial carcinoma sarcomatoid variant,DOID:7553,, +BMGC_DS09400,BMG_DS035315,,UMLS ID:C1512750,,,,,infiltrating renal pelvis/ureter urothelial carcinoma,MONDO:0004010,,,infiltrating ureter transitional cell carcinoma,DOID:6845,, +BMGC_DS09401,BMG_DS035317,,UMLS ID:C1512779,,,,,inner ear neoplasm,MONDO:0024320,,,inner ear cancer,DOID:5102,, +BMGC_DS09402,BMG_DS035318,,UMLS ID:C1512935,,,,,intraductal breast myoepitheliosis,MONDO:0004449,,,intraductal breast myoepitheliosis,DOID:8068,, +BMGC_DS09403,BMG_DS035319,,UMLS ID:C1512974,,,,,malignant vaginal mixed epithelial and mesenchymal neoplasm,MONDO:0037746,,,vaginal carcinosarcoma,DOID:136,, +BMGC_DS09404,BMG_DS035321,,UMLS ID:C1513364,,,,,mixed endometrial stromal and smooth muscle tumor,MONDO:0004526,,,mixed endometrial stromal and smooth muscle tumor,DOID:8302,, +BMGC_DS09405,BMG_DS035322,,UMLS ID:C1513365,,,,,mixed epithelial/mesenchymal metaplastic breast carcinoma,MONDO:0004274,,,mixed epithelial/mesenchymal metaplastic breast carcinoma,DOID:7541,, +BMGC_DS09406,BMG_DS035323,,UMLS ID:C1513369,,,,,penis mixed squamous cell carcinoma,MONDO:0004430,,,penis mixed squamous cell carcinoma,DOID:8009,, +BMGC_DS09407,BMG_DS035324,,UMLS ID:C1513711,,,,,mucin-rich endometrial endometrioid adenocarcinoma,MONDO:0004175,,,mucin-rich endometrial endometrioid adenocarcinoma,DOID:7293,, +BMGC_DS09408,BMG_DS035325,,UMLS ID:C1513718,,,,,mucinous intrahepatic cholangiocarcinoma,MONDO:0004078,,,mucinous intrahepatic cholangiocarcinoma,DOID:7024,, +BMGC_DS09409,BMG_DS035326,,UMLS ID:C1513719,,,,,,,,,mucinous tubular and spindle renal cell carcinoma,DOID:4472,, +BMGC_DS09410,BMG_DS035327,,UMLS ID:C1513721,,,,,thyroid gland mucoepidermoid carcinoma,MONDO:0006463,,,thyroid gland mucoepidermoid carcinoma,DOID:4687,, +BMGC_DS09411,BMG_DS035329,,UMLS ID:C1513799,,,,,breast myoepitheliosis,MONDO:0004262,,,breast myoepitheliosis,DOID:7521,, +BMGC_DS09412,BMG_DS035331,,UMLS ID:C1514199,,,,,polyembryoma of the ovary,MONDO:0003989,,,polyembryoma of the ovary,DOID:6774,, +BMGC_DS09413,BMG_DS035332,,UMLS ID:C1514200,,,,,testis polyembryoma,MONDO:0004442,,,testis polyembryoma,DOID:8042,, +BMGC_DS09414,BMG_DS035333,,UMLS ID:C1514284,,,,,potassium deficiency disease,MONDO:0003019,,,hypokalemia,DOID:4500,, +BMGC_DS09415,BMG_DS035334,,UMLS ID:C1514422,,,,,,,,,glioblastoma,DOID:3068,, +BMGC_DS09416,BMG_DS035335,,UMLS ID:C1514428,,,,,primary peritoneal carcinoma,MONDO:0015686,,,peritoneal carcinoma,DOID:1791,, +BMGC_DS09417,BMG_DS035336,,UMLS ID:C1514429,,,,,primary peritoneal serous adenocarcinoma,MONDO:0006386,,,peritoneal serous adenocarcinoma,DOID:4901,, +BMGC_DS09418,BMG_DS035339,,UMLS ID:C1514522,,,,,prostatic urethra urothelial carcinoma,MONDO:0003790,,,prostatic urethra urothelial carcinoma,DOID:6166,, +BMGC_DS09419,BMG_DS035340,,UMLS ID:C1514523,,,,,prostatic urethral cancer,MONDO:0003791,,,prostatic urethral cancer,DOID:6167,, +BMGC_DS09420,BMG_DS035341,,UMLS ID:C1514608,,,,,testicular pure germ cell tumor,MONDO:0002874,,,testicular pure germ cell tumor,DOID:4087,, +BMGC_DS09421,BMG_DS035342,,UMLS ID:C1514844,,,,,renal pelvis urothelial papilloma,MONDO:0003777,,,renal pelvis urothelial papilloma,DOID:6119,, +BMGC_DS09422,BMG_DS035343,,UMLS ID:C1514905,,,,,rete ovarii adenoma,MONDO:0004005,,,rete ovarii adenoma,DOID:6837,, +BMGC_DS09423,BMG_DS035344,,UMLS ID:C1514906,,,,,rete ovarii cystadenofibroma,MONDO:0004006,,,rete ovarii cystadenofibroma,DOID:6838,, +BMGC_DS09424,BMG_DS035345,,UMLS ID:C1514907,,,,,rete ovarii cystadenoma,MONDO:0003610,,,rete ovarii cystadenoma,DOID:5725,, +BMGC_DS09425,BMG_DS035346,,UMLS ID:C1514909,,,,,rete ovarii neoplasm,MONDO:0003192,,,rete ovarii benign neoplasm,DOID:4895,, +BMGC_DS09426,BMG_DS035348,,UMLS ID:C1514912,,,,,rete testis neoplasm,MONDO:0003562,,,rete testis neoplasm,DOID:5639,, +BMGC_DS09427,BMG_DS035350,,UMLS ID:C1515024,,,,,submucosal invasive colon adenocarcinoma,MONDO:0002496,,,submucosal invasive colon adenocarcinoma,DOID:3038,, +BMGC_DS09428,BMG_DS035351,,UMLS ID:C1515107,,,,,synchronous bilateral breast carcinoma,MONDO:0003983,,,synchronous bilateral breast carcinoma,DOID:6742,, +BMGC_DS09429,BMG_DS035352,,UMLS ID:C1515212,,,,,tamoxifen-related endometrial lesion,MONDO:0004414,,,tamoxifen-related endometrial lesion,DOID:7962,, +BMGC_DS09430,BMG_DS035353,,UMLS ID:C1515281,,,,,testicular Brenner tumor,MONDO:0003118,,,testicular Brenner tumor,DOID:4739,, +BMGC_DS09431,BMG_DS035356,,UMLS ID:C1515284,,,,,adult type testicular granulosa cell tumor,MONDO:0004548,,,adult type testicular granulosa cell tumor,DOID:8394,, +BMGC_DS09432,BMG_DS035357,,UMLS ID:C1515285,,,,,juvenile type testicular granulosa cell tumor,MONDO:0003741,,,juvenile type testicular granulosa cell tumor,DOID:6032,, +BMGC_DS09433,BMG_DS035358,,UMLS ID:C1515288,,,,,malignant testicular Leydig cell tumor,MONDO:0003737,,,testicular Leydig cell tumor,DOID:4756,, +BMGC_DS09434,BMG_DS035359,,UMLS ID:C1515289,,,,,,,,,testicular sex cord-stromal neoplasm,DOID:4757,, +BMGC_DS09435,BMG_DS035360,,UMLS ID:C1515290,,,,,testicular monophasic choriocarcinoma,MONDO:0003966,,,testicular monophasic choriocarcinoma,DOID:6693,, +BMGC_DS09436,BMG_DS035361,,UMLS ID:C1515292,,,,,cribriform variant testicular seminoma,MONDO:0004168,,,cribriform variant testicular seminoma,DOID:7269,, +BMGC_DS09437,BMG_DS035362,,UMLS ID:C1515293,,,,,pseudoglandular variant testicular seminoma,MONDO:0004541,,,pseudoglandular variant testicular seminoma,DOID:8358,, +BMGC_DS09438,BMG_DS035363,,UMLS ID:C1515294,,,,,tubular variant testicular seminoma,MONDO:0003973,,,tubular variant testicular seminoma,DOID:6706,, +BMGC_DS09439,BMG_DS035365,,UMLS ID:C1515301,,,,,testicular trophoblastic tumor,MONDO:0002871,,,testicular trophoblastic tumor,DOID:4084,, +BMGC_DS09440,BMG_DS035366,,UMLS ID:C1515303,,,,,"testicular yolk sac tumor, endodermal sinus pattern",MONDO:0004178,,,endodermal sinus pattern testicular yolk sac tumor,DOID:7302,, +BMGC_DS09441,BMG_DS035367,,UMLS ID:C1515304,,,,,enteric pattern testicular yolk sac tumor,MONDO:0004543,,,enteric pattern testicular yolk sac tumor,DOID:8362,, +BMGC_DS09442,BMG_DS035368,,UMLS ID:C1515305,,,,,"testicular yolk sac tumor, glandular-alveolar pattern",MONDO:0004402,,,glandular-alveolar pattern testicular yolk sac tumor,DOID:7930,, +BMGC_DS09443,BMG_DS035369,,UMLS ID:C1515306,,,,,"testicular yolk sac tumor, hepatoid pattern",MONDO:0004494,,,hepatoid pattern testicular yolk sac tumor,DOID:8195,, +BMGC_DS09444,BMG_DS035370,,UMLS ID:C1515307,,,,,"testicular yolk sac tumor, macrocystic pattern",MONDO:0004106,,,macrocystic pattern testicular yolk sac tumor,DOID:7097,, +BMGC_DS09445,BMG_DS035371,,UMLS ID:C1515308,,,,,reticular pattern testicular yolk sac tumor,MONDO:0004547,,,reticular pattern testicular yolk sac tumor,DOID:8392,, +BMGC_DS09446,BMG_DS035372,,UMLS ID:C1515309,,,,,"testicular yolk sac tumor, myxomatous pattern",MONDO:0004453,,,myxomatous pattern testicular yolk sac tumor,DOID:8081,, +BMGC_DS09447,BMG_DS035373,,UMLS ID:C1515310,,,,,"testicular yolk sac tumor, papillary pattern",MONDO:0004493,,,papillary pattern testicular yolk sac tumor,DOID:8193,, +BMGC_DS09448,BMG_DS035374,,UMLS ID:C1515311,,,,,polyvesicular vitelline pattern testicular yolk sac tumor,MONDO:0004219,,,polyvesicular vitelline pattern testicular yolk sac tumor,DOID:7435,, +BMGC_DS09449,BMG_DS035375,,UMLS ID:C1515312,,,,,"testicular yolk sac tumor, solid pattern",MONDO:0004198,,,solid pattern testicular yolk sac tumor,DOID:7360,, +BMGC_DS09450,BMG_DS035376,,UMLS ID:C1515864,,,,,,,,,lymphoepithelioma-like acinar prostate adenocarcinoma,DOID:7246,, +BMGC_DS09451,BMG_DS035377,,UMLS ID:C1515868,,,,,acinic cell breast carcinoma,MONDO:0003624,,,acinic cell breast carcinoma,DOID:5743,, +BMGC_DS09452,BMG_DS035378,,UMLS ID:C1515893,,,,,adult vagina botryoid embryonal rhabdomyosarcoma,MONDO:0004013,,,adult vagina botryoid rhabdomyosarcoma,DOID:6848,, +BMGC_DS09453,BMG_DS035379,,UMLS ID:C1516284,,,,,carcinoma of Cowper glands,MONDO:0004311,,,Cowper gland carcinoma,DOID:7632,, +BMGC_DS09454,BMG_DS035380,,UMLS ID:C1516285,,,,,Littre gland carcinoma,MONDO:0003975,,,Littre gland carcinoma,DOID:6721,, +BMGC_DS09455,BMG_DS035381,,UMLS ID:C1516371,,,,,cellular neurofibroma,MONDO:0003305,,,cellular neurofibroma,DOID:5152,, +BMGC_DS09456,BMG_DS035383,,UMLS ID:C1516403,,,,,cervical adenoid basal carcinoma,MONDO:0006132,,,cervical adenoid basal carcinoma,DOID:6428,, +BMGC_DS09457,BMG_DS035384,,UMLS ID:C1516404,,,,,cervical adenomyoma,MONDO:0003238,,,cervical adenomyoma,DOID:4995,, +BMGC_DS09458,BMG_DS035385,,UMLS ID:C1516405,,,,,endocervical type cervical adenomyoma,MONDO:0004486,,,endocervical type cervical adenomyoma,DOID:8177,, +BMGC_DS09459,BMG_DS035386,,UMLS ID:C1516407,,,,,"cervical adenosquamous carcinoma, glassy cell variant",MONDO:0004542,,,glassy cell variant cervical adenosquamous carcinoma,DOID:8361,, +BMGC_DS09460,BMG_DS035387,,UMLS ID:C1516408,,,,,cervical alveolar soft part sarcoma,MONDO:0003003,,,cervical alveolar soft part sarcoma,DOID:4442,, +BMGC_DS09461,BMG_DS035388,,UMLS ID:C1516409,,,,,cervical atypical polypoid adenomyoma,MONDO:0004488,,,cervical atypical polypoid adenomyoma,DOID:8179,, +BMGC_DS09462,BMG_DS035390,,UMLS ID:C1516417,,,,,cervical large cell neuroendocrine carcinoma,MONDO:0006138,,,cervical large cell neuroendocrine carcinoma,DOID:6659,, +BMGC_DS09463,BMG_DS035391,,UMLS ID:C1516418,,,,,cervical lymphoepithelioma-like carcinoma,MONDO:0004296,,,cervical lymphoepithelioma-like carcinoma,DOID:7598,, +BMGC_DS09464,BMG_DS035392,,UMLS ID:C1516419,,,,,Wolffian duct adenocarcinoma,MONDO:0003410,,,Wolffian duct adenocarcinoma,DOID:5368,, +BMGC_DS09465,BMG_DS035393,,UMLS ID:C1516420,,,,,,,,,cervical carcinosarcoma,DOID:4112,, +BMGC_DS09466,BMG_DS035394,,UMLS ID:C1516422,,,,,intestinal variant cervical mucinous adenocarcinoma,MONDO:0004537,,,intestinal variant cervical mucinous adenocarcinoma,DOID:8339,, +BMGC_DS09467,BMG_DS035395,,UMLS ID:C1516423,,,,,"cervical mucinous adenocarcinoma, minimal deviation variant",MONDO:0006140,,,cervical adenoma malignum,DOID:6627,, +BMGC_DS09468,BMG_DS035396,,UMLS ID:C1516424,,,,,signet ring cell variant cervical mucinous adenocarcinoma,MONDO:0003768,,,signet ring cell variant cervical mucinous adenocarcinoma,DOID:6101,, +BMGC_DS09469,BMG_DS035397,,UMLS ID:C1516426,,,,,cervical adenosarcoma,MONDO:0002876,,,cervical adenosarcoma,DOID:4111,, +BMGC_DS09470,BMG_DS035399,,UMLS ID:C1516431,,,,,cervical serous adenocarcinoma,MONDO:0003631,,,cervical serous adenocarcinoma,DOID:5752,, +BMGC_DS09471,BMG_DS035400,,UMLS ID:C1516435,,,,,cervical verrucous carcinoma,MONDO:0002761,,,cervical verrucous carcinoma,DOID:3743,, +BMGC_DS09472,BMG_DS035401,,UMLS ID:C1516437,,,,,cervical Wilms tumor,MONDO:0006144,,,cervical Wilms' tumor,DOID:5190,, +BMGC_DS09473,BMG_DS035402,,UMLS ID:C1516475,,,,,classic congenital mesoblastic nephroma,MONDO:0004455,,,classic congenital mesoblastic nephroma,DOID:8083,, +BMGC_DS09474,BMG_DS035403,,UMLS ID:C1516490,,,,,cholangiolocellular carcinoma,MONDO:0004315,,,cholangiolocellular carcinoma,DOID:7642,, +BMGC_DS09475,BMG_DS035404,,UMLS ID:C1516553,,,,,cellular phase chronic idiopathic myelofibrosis,MONDO:0004463,,,cellular phase chronic idiopathic myelofibrosis,DOID:8106,, +BMGC_DS09476,BMG_DS035405,,UMLS ID:C1516599,,,,,skin clear cell basal cell carcinoma,MONDO:0002950,,,clear cell basal cell carcinoma,DOID:4293,, +BMGC_DS09477,BMG_DS035406,,UMLS ID:C1516760,,,,,schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma,MONDO:0004408,,,Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma,DOID:7951,, +BMGC_DS09478,BMG_DS035407,,UMLS ID:C1516761,,,,,stroma-dominant and stroma-poor composite ganglioneuroblastoma,MONDO:0004407,,,stroma-dominant and stroma-poor composite ganglioneuroblastoma,DOID:7949,, +BMGC_DS09479,BMG_DS035409,,UMLS ID:C1516858,,,,,endometrial small cell carcinoma,MONDO:0006197,,,endometrial small cell carcinoma,DOID:7139,, +BMGC_DS09480,BMG_DS035410,,UMLS ID:C1516864,,,,,endometrial transitional cell carcinoma,MONDO:0002832,,,endometrial transitional cell carcinoma,DOID:4005,, +BMGC_DS09481,BMG_DS035412,,UMLS ID:C1517109,,,,,fallopian tube serous adenofibroma,MONDO:0003461,,,fallopian tube adenofibroma,DOID:5478,, +BMGC_DS09482,BMG_DS035414,,UMLS ID:C1517111,,,,,fallopian tube cystadenofibroma,MONDO:0004501,,,fallopian tube cystadenofibroma,DOID:8211,, +BMGC_DS09483,BMG_DS035415,,UMLS ID:C1517113,,,,,fallopian tube endometrioid tumor,MONDO:0021576,,,fallopian tube endometrioid adenocarcinoma,DOID:5831,, +BMGC_DS09484,BMG_DS035416,,UMLS ID:C1517114,,,,,fallopian tube germ cell tumor,MONDO:0003392,,,fallopian tube germ cell cancer,DOID:5324,, +BMGC_DS09485,BMG_DS035418,,UMLS ID:C1517116,,,,,fallopian tube leiomyosarcoma,MONDO:0002159,,,fallopian tube leiomyosarcoma,DOID:1965,, +BMGC_DS09486,BMG_DS035419,,UMLS ID:C1517117,,,,,fallopian tube carcinosarcoma,MONDO:0006207,,,fallopian tube carcinosarcoma,DOID:1970,, +BMGC_DS09487,BMG_DS035420,,UMLS ID:C1517119,,,,,fallopian tube mucinous adenocarcinoma,MONDO:0002744,,,fallopian tube mucinous adenocarcinoma,DOID:3704,, +BMGC_DS09488,BMG_DS035422,,UMLS ID:C1517121,,,,,fallopian tube adenosarcoma,MONDO:0002162,,,fallopian tube adenosarcoma,DOID:1973,, +BMGC_DS09489,BMG_DS035424,,UMLS ID:C1517124,,,,,fallopian tube serous adenocarcinoma,MONDO:0006208,,,fallopian tube serous adenocarcinoma,DOID:5598,, +BMGC_DS09490,BMG_DS035425,,UMLS ID:C1517127,,,,,fallopian tube teratoma,MONDO:0003515,,,fallopian tube teratoma,DOID:5564,, +BMGC_DS09491,BMG_DS035426,,UMLS ID:C1517128,,,,,fallopian tube transitional cell carcinoma,MONDO:0002833,,,fallopian tube transitional cell carcinoma,DOID:4008,, +BMGC_DS09492,BMG_DS035427,,UMLS ID:C1517154,,,,,female urethral cancer,MONDO:0004203,,,female urethral cancer,DOID:738,, +BMGC_DS09493,BMG_DS035428,,UMLS ID:C1517444,,,,,intermixed schwannian stroma-rich ganglioneuroblastoma,MONDO:0003326,,,intermixed schwannian stroma-rich ganglioneuroblastoma,DOID:5194,, +BMGC_DS09494,BMG_DS035429,,UMLS ID:C1517445,,,,,nodular ganglioneuroblastoma,MONDO:0003325,,,nodular ganglioneuroblastoma,DOID:5193,, +BMGC_DS09495,BMG_DS035430,,UMLS ID:C1517538,,,,,gestational ovarian choriocarcinoma,MONDO:0004294,,,gestational ovarian choriocarcinoma,DOID:7591,, +BMGC_DS09496,BMG_DS035431,,UMLS ID:C1517579,,,,,micropapillary variant infiltrating bladder urothelial carcinoma,MONDO:0004057,,,micropapillary variant infiltrating bladder urothelial carcinoma,DOID:6976,, +BMGC_DS09497,BMG_DS035432,,UMLS ID:C1517658,,,,,cervical keratinizing squamous cell carcinoma,MONDO:0004239,,,cervical keratinizing squamous cell carcinoma,DOID:7483,, +BMGC_DS09498,BMG_DS035433,,UMLS ID:C1517744,,,,,late yaws,MONDO:0001066,,,late yaws,DOID:10567,, +BMGC_DS09499,BMG_DS035435,,UMLS ID:C1517894,,,,,lipid-rich breast carcinoma,MONDO:0021090,,,breast lipid-rich carcinoma,DOID:7076,, +BMGC_DS09500,BMG_DS035437,,UMLS ID:C1518164,,,,,male urethral cancer,MONDO:0004197,,,male urethral cancer,DOID:736,, +BMGC_DS09501,BMG_DS035438,,UMLS ID:C1518167,,,,,malignant breast myoepithelioma,MONDO:0003990,,,breast myoepithelial carcinoma,DOID:6776,, +BMGC_DS09502,BMG_DS035439,,UMLS ID:C1518168,,,,,,,,,cervical carcinosarcoma,DOID:4112,, +BMGC_DS09503,BMG_DS035441,,UMLS ID:C1518231,,,,,ovarian endometrial cancer,MONDO:0003812,,,ovarian endometrial cancer,DOID:6212,, +BMGC_DS09504,BMG_DS035442,,UMLS ID:C1518233,,,,,mucinous ovarian cancer,MONDO:0024282,,,ovarian mucinous neoplasm,DOID:6067,, +BMGC_DS09505,BMG_DS035443,,UMLS ID:C1518234,,,,,malignant ovarian serous tumor,MONDO:0024885,,,ovary serous adenocarcinoma,DOID:5744,, +BMGC_DS09506,BMG_DS035444,,UMLS ID:C1518236,,,,,,,,,malignant ovarian surface epithelial-stromal neoplasm,DOID:2151,, +BMGC_DS09507,BMG_DS035445,,UMLS ID:C1518355,,,,,non-gestational ovarian choriocarcinoma,MONDO:0004322,,,non-gestational ovarian choriocarcinoma,DOID:7665,, +BMGC_DS09508,BMG_DS035446,,UMLS ID:C1518358,,,,,non-invasive bladder papillary urothelial neoplasm,MONDO:0003822,,,non-invasive bladder papillary urothelial neoplasm,DOID:6239,, +BMGC_DS09509,BMG_DS035447,,UMLS ID:C1518361,,,,,urinary tract non-invasive transitional cell neoplasm,MONDO:0003755,,,urinary tract non-invasive transitional cell neoplasm,DOID:6065,, +BMGC_DS09510,BMG_DS035448,,UMLS ID:C1518366,,,,,cervical non-keratinizing squamous cell carcinoma,MONDO:0004413,,,cervical non-keratinizing squamous cell carcinoma,DOID:7961,, +BMGC_DS09511,BMG_DS035449,,UMLS ID:C1518574,,,,,oncocytic breast carcinoma,MONDO:0003935,,,breast oncocytic carcinoma,DOID:6585,, +BMGC_DS09512,BMG_DS035450,,UMLS ID:C1518691,,,,,ovarian biphasic or triphasic teratoma,MONDO:0003821,,,ovarian biphasic or triphasic teratoma,DOID:6232,, +BMGC_DS09513,BMG_DS035451,,UMLS ID:C1518693,,,,,ovarian clear cell adenocarcinoma,MONDO:0006045,,,ovarian clear cell adenocarcinoma,DOID:5304,, +BMGC_DS09514,BMG_DS035452,,UMLS ID:C1518694,,,,,ovarian clear cell adenofibroma,MONDO:0003695,,,ovarian clear cell adenofibroma,DOID:5897,, +BMGC_DS09515,BMG_DS035453,,UMLS ID:C1518695,,,,,ovarian clear cell cystadenofibroma,MONDO:0003694,,,ovarian clear cell cystadenofibroma,DOID:5896,, +BMGC_DS09516,BMG_DS035454,,UMLS ID:C1518711,,,,,ovarian endometrioid adenocarcinofibroma,MONDO:0003879,,,ovarian endometrioid malignant adenofibroma,DOID:6445,, +BMGC_DS09517,BMG_DS035455,,UMLS ID:C1518713,,,,,ovarian endometrioid cystadenoma,MONDO:0004136,,,ovarian endometrioid cystadenoma,DOID:7191,, +BMGC_DS09518,BMG_DS035456,,UMLS ID:C1518715,,,,,ovarian fetiform teratoma,MONDO:0003851,,,ovarian fetiform teratoma,DOID:6314,, +BMGC_DS09519,BMG_DS035457,,UMLS ID:C1518716,,,,,ovarian gonadoblastoma,MONDO:0002697,,,ovarian gonadoblastoma,DOID:3578,,OMIM ID:424500 +BMGC_DS09520,BMG_DS035458,,UMLS ID:C1518720,,,,,ovarian lymphoma,MONDO:0002227,,,ovarian lymphoma,DOID:2150,, +BMGC_DS09521,BMG_DS035459,,UMLS ID:C1518721,,,,,ovarian malignant mesothelioma,MONDO:0002223,,,ovarian malignant mesothelioma,DOID:2143,, +BMGC_DS09522,BMG_DS035460,,UMLS ID:C1518723,,,,,ovarian mucinous adenofibroma,MONDO:0003887,,,ovarian mucinous adenofibroma,DOID:6469,, +BMGC_DS09523,BMG_DS035461,,UMLS ID:C1518725,,,,,ovarian mucinous cystadenofibroma,MONDO:0004074,,,ovarian mucinous cystadenofibroma,DOID:7013,, +BMGC_DS09524,BMG_DS035462,,UMLS ID:C1518727,,,,,ovarian primitive germ cell tumor,MONDO:0003408,,,ovarian primitive germ cell tumor,DOID:5351,, +BMGC_DS09525,BMG_DS035463,,UMLS ID:C1518729,,,,,ovarian serous adenofibroma,MONDO:0006340,,,ovarian serous adenofibroma,DOID:5474,, +BMGC_DS09526,BMG_DS035467,,UMLS ID:C1518743,,,,,ovarian stromal hyperthecosis,MONDO:0004194,,,ovarian stromal hyperthecosis,DOID:7347,, +BMGC_DS09527,BMG_DS035468,,UMLS ID:C1518746,,,,,ovarian Wilms tumor,MONDO:0002230,,,ovarian Wilms' cancer,DOID:2153,, +BMGC_DS09528,BMG_DS035469,,UMLS ID:C1518747,,,,,"ovarian yolk sac tumor, glandular pattern",MONDO:0003905,,,glandular pattern ovarian yolk sac tumor,DOID:6511,, +BMGC_DS09529,BMG_DS035470,,UMLS ID:C1518748,,,,,"ovarian yolk sac tumor, hepatoid pattern",MONDO:0003906,,,hepatoid pattern ovarian yolk sac tumor,DOID:6512,, +BMGC_DS09530,BMG_DS035471,,UMLS ID:C1518749,,,,,"ovarian yolk sac tumor, polyvesicular vitelline pattern",MONDO:0003907,,,polyvesicular vitelline pattern ovarian yolk sac tumor,DOID:6514,, +BMGC_DS09531,BMG_DS035472,,UMLS ID:C1518768,,,,,oxyphilic endometrial endometrioid adenocarcinoma,MONDO:0004019,,,oxyphilic endometrial endometrioid adenocarcinoma,DOID:6865,, +BMGC_DS09532,BMG_DS035474,,UMLS ID:C1518870,,,,,pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma,MONDO:0004158,,,pancreatic invasive mucinous cystadenocarcinoma,DOID:7236,, +BMGC_DS09533,BMG_DS035475,,UMLS ID:C1518871,,,,,pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma,MONDO:0004481,,,pancreatic invasive intraductal papillary-mucinous carcinoma,DOID:8150,, +BMGC_DS09534,BMG_DS035476,,UMLS ID:C1518872,,,,,pancreatic mucinous-cystic neoplasm,MONDO:0044879,,,pancreatic mucinous cystadenoma,DOID:7235,, +BMGC_DS09535,BMG_DS035477,,UMLS ID:C1518873,,,,,pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia,MONDO:0004329,,,pancreatic non-invasive intraductal papillary-mucinous carcinoma,DOID:7685,, +BMGC_DS09536,BMG_DS035478,,UMLS ID:C1518875,,,,,pancreatic serous cystic neoplasm,MONDO:0002810,,,pancreatic serous cystic neoplasm,DOID:3919,, +BMGC_DS09537,BMG_DS035479,,UMLS ID:C1518879,,,,,chromophil adenoma of the kidney,MONDO:0003829,,,chromophil adenoma of the kidney,DOID:6257,, +BMGC_DS09538,BMG_DS035480,,UMLS ID:C1518882,,,,,bladder papillary urothelial carcinoma,MONDO:0004056,,,bladder urothelial papillary carcinoma,DOID:6975,, +BMGC_DS09539,BMG_DS035481,,UMLS ID:C1518949,,,,,penis basal cell carcinoma,MONDO:0002935,,,penis basal cell carcinoma,DOID:4277,, +BMGC_DS09540,BMG_DS035482,,UMLS ID:C1518950,,,,,penile urethral cancer,MONDO:0004504,,,penile urethral cancer,DOID:8223,, +BMGC_DS09541,BMG_DS035483,,UMLS ID:C1518974,,,,,periductal breast myoepitheliosis,MONDO:0004261,,,periductal breast myoepitheliosis,DOID:7520,, +BMGC_DS09542,BMG_DS035484,,UMLS ID:C1519001,,,,,peripheral nerve schwannoma,MONDO:0004820,,,peripheral nerve schwannoma,DOID:956,, +BMGC_DS09543,BMG_DS035485,,UMLS ID:C1519086,,,,,pilomyxoid astrocytoma,MONDO:0016692,,,pilomyxoid astrocytoma,DOID:4845,, +BMGC_DS09544,BMG_DS035487,,UMLS ID:C1519176,,,,,pleomorphic adenoma,MONDO:0008401,,,,,,OMIM ID:181030 +BMGC_DS09545,BMG_DS035488,,UMLS ID:C1519182,,,,,sarcomatoid basal cell carcinoma,MONDO:0002957,,,sarcomatoid basal cell carcinoma,DOID:4303,, +BMGC_DS09546,BMG_DS035489,,UMLS ID:C1519184,,,,,sarcomatous intrahepatic cholangiocarcinoma,MONDO:0004451,,,sarcomatous intrahepatic cholangiocarcinoma,DOID:8072,, +BMGC_DS09547,BMG_DS035490,,UMLS ID:C1519207,,,,,sebaceous breast carcinoma,MONDO:0003635,,,sebaceous breast carcinoma,DOID:5760,, +BMGC_DS09548,BMG_DS035491,,UMLS ID:C1519233,,,,,seminal vesicle adenocarcinoma,MONDO:0001993,,,seminal vesicle adenocarcinoma,DOID:14545,, +BMGC_DS09549,BMG_DS035492,,UMLS ID:C1519234,,,,,seminal vesicle cystadenoma,MONDO:0003609,,,seminal vesicle cystadenoma,DOID:5724,, +BMGC_DS09550,BMG_DS035493,,UMLS ID:C1519320,,,,,signet ring basal cell carcinoma,MONDO:0002958,,,signet ring basal cell carcinoma,DOID:4304,, +BMGC_DS09551,BMG_DS035494,,UMLS ID:C1519321,,,,,signet ring cell intrahepatic cholangiocarcinoma,MONDO:0004346,,,signet ring cell intrahepatic cholangiocarcinoma,DOID:7733,, +BMGC_DS09552,BMG_DS035496,,UMLS ID:C1519485,,,,,acantholytic variant squamous cell breast carcinoma,MONDO:0004229,,,acantholytic variant squamous cell breast carcinoma,DOID:7459,, +BMGC_DS09553,BMG_DS035497,,UMLS ID:C1519486,,,,,large cell keratinizing variant squamous cell breast carcinoma,MONDO:0004232,,,large cell keratinizing variant squamous cell breast carcinoma,DOID:7461,, +BMGC_DS09554,BMG_DS035498,,UMLS ID:C1519487,,,,,spindle cell variant squamous cell breast carcinoma,MONDO:0004231,,,spindle cell variant squamous cell breast carcinoma,DOID:7460,, +BMGC_DS09555,BMG_DS035500,,UMLS ID:C1519706,,,,,type 1 papillary adenoma of the kidney,MONDO:0003830,,,type 1 papillary adenoma of the kidney,DOID:6258,, +BMGC_DS09556,BMG_DS035501,,UMLS ID:C1519710,,,,,type 2 papillary adenoma of the kidney,MONDO:0003831,,,type 2 papillary adenoma of the kidney,DOID:6259,, +BMGC_DS09557,BMG_DS035503,,UMLS ID:C1519823,,,,,ureter urothelial papilloma,MONDO:0004044,,,ureter urothelial papilloma,DOID:6936,, +BMGC_DS09558,BMG_DS035504,,UMLS ID:C1519826,,,,,urethral urothelial papilloma,MONDO:0002221,,,urethral urothelial papilloma,DOID:2140,, +BMGC_DS09559,BMG_DS035505,,UMLS ID:C1519827,,,,,urethral verrucous carcinoma,MONDO:0002763,,,urethral verrucous carcinoma,DOID:3749,, +BMGC_DS09560,BMG_DS035506,,UMLS ID:C1519828,,,,,urethral villous adenoma,MONDO:0003565,,,urethral villous adenoma,DOID:5643,, +BMGC_DS09561,BMG_DS035508,,UMLS ID:C1519844,,,,,uterine corpus atypical polypoid adenomyoma,MONDO:0004386,,,uterine corpus atypical polypoid adenomyoma,DOID:7878,, +BMGC_DS09562,BMG_DS035509,,UMLS ID:C1519845,,,,,uterine corpus cellular leiomyoma,MONDO:0004162,,,uterine corpus cellular leiomyoma,DOID:7242,, +BMGC_DS09563,BMG_DS035510,,UMLS ID:C1519847,,,,,uterine corpus dissecting leiomyoma,MONDO:0001842,,,uterine corpus dissecting leiomyoma,DOID:13953,, +BMGC_DS09564,BMG_DS035511,,UMLS ID:C1519849,,,,,uterine corpus endometrial stromal sarcoma,MONDO:0002923,,,uterine corpus endometrial stromal sarcoma,DOID:4227,, +BMGC_DS09565,BMG_DS035512,,UMLS ID:C1519850,,,,,uterine corpus epithelioid leiomyoma,MONDO:0001841,,,uterine corpus epithelioid leiomyoma,DOID:13951,, +BMGC_DS09566,BMG_DS035513,,UMLS ID:C1519851,,,,,uterine corpus epithelioid leiomyosarcoma,MONDO:0003782,,,uterine corpus epithelioid leiomyosarcoma,DOID:6139,, +BMGC_DS09567,BMG_DS035514,,UMLS ID:C1519852,,,,,uterine corpus apoplectic leiomyoma,MONDO:0004161,,,uterine corpus apoplectic leiomyoma,DOID:7241,, +BMGC_DS09568,BMG_DS035517,,UMLS ID:C1519856,,,,,uterine corpus lipoleiomyoma,MONDO:0001845,,,uterine corpus lipoleiomyoma,DOID:13957,, +BMGC_DS09569,BMG_DS035519,,UMLS ID:C1519859,,,,,endometrial mucinous adenocarcinoma,MONDO:0002747,,,endometrial mucinous adenocarcinoma,DOID:3707,, +BMGC_DS09570,BMG_DS035520,,UMLS ID:C1519860,,,,,uterine corpus myxoid leiomyoma,MONDO:0001844,,,uterine corpus myxoid leiomyoma,DOID:13956,, +BMGC_DS09571,BMG_DS035521,,UMLS ID:C1519861,,,,,uterine corpus myxoid leiomyosarcoma,MONDO:0003928,,,uterine corpus myxoid leiomyosarcoma,DOID:6567,, +BMGC_DS09572,BMG_DS035522,,UMLS ID:C1519862,,,,,uterine corpus perivascular epithelioid cell tumor,MONDO:0004221,,,uterus perivascular epithelioid cell tumor,DOID:7437,, +BMGC_DS09573,BMG_DS035524,,UMLS ID:C1519870,,,,,uterine ligament neoplasm,MONDO:0021629,,,uterine ligament cancer,DOID:5727,, +BMGC_DS09574,BMG_DS035525,,UMLS ID:C1519872,,,,,uterine ligament serous adenocarcinoma,MONDO:0003626,,,uterine ligament serous adenocarcinoma,DOID:5747,, +BMGC_DS09575,BMG_DS035527,,UMLS ID:C1519913,,,,,vaginal adenoma,MONDO:0003434,,,vaginal adenoma,DOID:5402,, +BMGC_DS09576,BMG_DS035528,,UMLS ID:C1519914,,,,,vaginal adenosarcoma,MONDO:0002881,,,vaginal adenosarcoma,DOID:4117,, +BMGC_DS09577,BMG_DS035529,,UMLS ID:C1519918,,,,,vaginal carcinosarcoma,MONDO:0006488,,,vaginal carcinosarcoma,DOID:136,, +BMGC_DS09578,BMG_DS035530,,UMLS ID:C1519921,,,,,vaginal glandular neoplasm,MONDO:0001704,,,vaginal glandular tumor,DOID:134,, +BMGC_DS09579,BMG_DS035531,,UMLS ID:C1519924,,,,,,,,,vaginal carcinosarcoma,DOID:136,, +BMGC_DS09580,BMG_DS035533,,UMLS ID:C1519931,,,,,vaginal squamous tumor,MONDO:0001806,,,vaginal squamous tumor,DOID:138,, +BMGC_DS09581,BMG_DS035534,,UMLS ID:C1519933,,,,,vaginal tubulovillous adenoma,MONDO:0004461,,,vaginal tubulovillous adenoma,DOID:8104,, +BMGC_DS09582,BMG_DS035535,,UMLS ID:C1519936,,,,,vaginal villous adenoma,MONDO:0003946,,,vaginal villous adenoma,DOID:6613,, +BMGC_DS09583,BMG_DS035536,,UMLS ID:C1519982,,,,,vestibular micropapillomatosis,MONDO:0003929,,,micropapillomatosis labialis,DOID:6569,, +BMGC_DS09584,BMG_DS035537,,UMLS ID:C1520069,,,,,vulvar alveolar soft part sarcoma,MONDO:0003391,,,vulvar alveolar soft part sarcoma,DOID:5313,, +BMGC_DS09585,BMG_DS035538,,UMLS ID:C1520076,,,,,vulvar clear cell hidradenocarcinoma,MONDO:0004283,,,vulvar clear cell hidradenocarcinoma,DOID:7567,, +BMGC_DS09586,BMG_DS035539,,UMLS ID:C1520081,,,,,vulvar eccrine porocarcinoma,MONDO:0004281,,,vulvar eccrine porocarcinoma,DOID:7565,, +BMGC_DS09587,BMG_DS035540,,UMLS ID:C1520082,,,,,vulvar glandular neoplasm,MONDO:0002198,,,vulvar glandular tumor,DOID:2076,, +BMGC_DS09588,BMG_DS035542,,UMLS ID:C1520084,,,,,vulvar inverted follicular keratosis,MONDO:0006621,,,vulvar inverted follicular keratosis,DOID:6943,, +BMGC_DS09589,BMG_DS035545,,UMLS ID:C1520092,,,,,vulvar non-keratinizing squamous cell carcinoma,MONDO:0004213,,,vulvar non-keratinizing squamous cell carcinoma,DOID:7409,, +BMGC_DS09590,BMG_DS035546,,UMLS ID:C1520093,,,,,vulvar proximal-type epithelioid sarcoma,MONDO:0004243,,,vulvar proximal-type epithelioid sarcoma,DOID:7491,, +BMGC_DS09591,BMG_DS035547,,UMLS ID:C1520094,,,,,vulvar sebaceous carcinoma,MONDO:0003636,,,vulvar sebaceous carcinoma,DOID:5761,, +BMGC_DS09592,BMG_DS035548,,UMLS ID:C1520097,,,,,vulvar squamous neoplasm,MONDO:0002195,,,vulvar squamous tumor,DOID:2072,, +BMGC_DS09593,BMG_DS035551,,UMLS ID:C1520159,,,,,Wolffian adnexal tumor,MONDO:0004255,,,Wolffian adnexal neoplasm,DOID:7514,, +BMGC_DS09594,BMG_DS035552,Intermittent cerebral ischemia,UMLS ID:C1521728,Temporary cerebral vascular dysfunction | Transient ischaemic attack | Transient cerebral ischemia | Transient ischemic attack | Transient cerebral ischaemia | Transient ischemic attack (disorder) | TIA - transient ischemic attack | TIA - transient ischaemic attack | Intermittent cerebral ischaemia | Intermittent cerebral ischemia | Intermittent cerebral ischemia (disorder) | Transient cerebral ischemia | Transient cerebral ischaemia | Transient cerebral ischemia (disorder),SNOMEDCT ID:266257000 | SNOMEDCT ID:195206000 | SNOMEDCT ID:38609002,,,,,,,,,, +BMGC_DS09595,BMG_DS035555,Bonnevie-Ullrich Syndrome,UMLS ID:C1527168,,,,,Bonnevie-Ullrich syndrome,MONDO:0100492,Turner Syndrome,MeSH ID:D014424,Turner syndrome,DOID:3491,, +BMGC_DS09596,BMG_DS035557,CRST syndrome,UMLS ID:C1527226,"CRST syndrome | Calcinosis cutis, Raynaud's, sclerodactyly AND telangiectasia | CRST - Calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia (CRST) syndrome | Calcinosis, Raynaud phenomenon, sclerodactyly, and telangiectasia (CRST) syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome | Calcinosis, Raynaud's phenomenon, sclerodactyly, and telangiectasia syndrome (disorder)",SNOMEDCT ID:62382002,,,,,,,CREST syndrome,DOID:0060218,, +BMGC_DS09597,BMG_DS035558,Adrenomyeloneuropathy,UMLS ID:C1527231,Adrenomyeloneuropathy (disorder) | AMN - adrenomyeloneuropathy | Adult onset adrenoleukodystrophy | Adrenomyeloneuropathy | Adrenoleukodystrophy | Bronze Schilder disease | Schilder-Addison complex | Siemerling-Creutzfeldt disease | Adrenoleukodystrophy (disorder) | X-linked adrenoleucodystrophy | Adrenoleucodystrophy | ALD - adrenoleukodystrophy | X-linked adrenoleukodystrophy,SNOMEDCT ID:1269423000 | SNOMEDCT ID:65389002,,,adrenomyeloneuropathy,MONDO:0015339,Adrenoleukodystrophy,MeSH ID:D000326,,,ICD10 ID:E71.522, +BMGC_DS09598,BMG_DS035560,Dental Pulp Stone,UMLS ID:C1527284,,,,,dentin dysplasia type II,MONDO:0007437,Dental Pulp Calcification,MeSH ID:D003784,,,,OMIM ID:125420 +BMGC_DS09599,BMG_DS035563,Chronic Airflow Obstruction,UMLS ID:C1527303,,,,,,,"Pulmonary Disease, Chronic Obstructive",MeSH ID:D029424,,,, +BMGC_DS09600,BMG_DS035564,Ametropia,UMLS ID:C1527310,Disorder of refraction | Refractive error | Disorder of refraction (disorder) | Ametropia,SNOMEDCT ID:39021009,,,,,Refractive Errors,MeSH ID:D012030,,,, +BMGC_DS09601,BMG_DS035565,,UMLS ID:C1527311,,,,,,,,,brain edema,DOID:4724,, +BMGC_DS09602,BMG_DS035566,Alpha-Aminoadipic Semialdehyde Deficiency Disease,UMLS ID:C1527317,,,,,,,Hyperlysinemias,MeSH ID:D020167,,,, +BMGC_DS09603,BMG_DS035568,"Vertigo, Aural",UMLS ID:C1527320,,,,,,,Meniere Disease,MeSH ID:D008575,,,, +BMGC_DS09604,BMG_DS035569,Pyridoxine Deficiency,UMLS ID:C1527330,,,,,,,Vitamin B 6 Deficiency,MeSH ID:D026681,,,, +BMGC_DS09605,BMG_DS035570,"Transient Ischemic Attack, Anterior Circulation",UMLS ID:C1527335,,,,,,,"Ischemic Attack, Transient",MeSH ID:D002546,,,, +BMGC_DS09606,BMG_DS035571,Sjogren's Syndrome,UMLS ID:C1527336,,,,,Sjogren syndrome,MONDO:0010030,Sjogren's Syndrome,MeSH ID:D012859,Sjogren's syndrome,DOID:12894,,OMIM ID:270150 +BMGC_DS09607,BMG_DS035572,"Familial Amyloid Polyneuropathy, Appalachian Type",UMLS ID:C1527337,,,,,,,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,, +BMGC_DS09608,BMG_DS035573,"Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",UMLS ID:C1527338,,,,,ACys amyloidosis,MONDO:0007098,"Cerebral Amyloid Angiopathy, Familial",MeSH ID:D028243,cerebral amyloid angiopathy,DOID:9246,,OMIM ID:105150 +BMGC_DS09609,BMG_DS035574,,UMLS ID:C1527349,,,,,breast ductal adenocarcinoma,MONDO:0005590,,,invasive ductal carcinoma,DOID:3008,, +BMGC_DS09610,BMG_DS035575,Nerve Root Disorder,UMLS ID:C1527351,,,,,,,Radiculopathy,MeSH ID:D011843,,,, +BMGC_DS09611,BMG_DS035576,Hepatic Form of Wilson Disease,UMLS ID:C1527352,,,,,,,Hepatolenticular Degeneration,MeSH ID:D006527,,,, +BMGC_DS09612,BMG_DS035577,Algodystrophic Syndrome,UMLS ID:C1527353,,,,,,,Reflex Sympathetic Dystrophy,MeSH ID:D012019,,,, +BMGC_DS09613,BMG_DS035579,Phototoxicity,UMLS ID:C1527358,Phototoxicity | Phototoxicity (finding) | Photosensitisation reaction | Photosensitization reaction | Photosensitive dermatitis,SNOMEDCT ID:84326006,,,,,"Dermatitis, Phototoxic",MeSH ID:D017484,,,, +BMGC_DS09614,BMG_DS035580,Salaam Seizures,UMLS ID:C1527366,,,,,,,"Spasms, Infantile",MeSH ID:D013036,West syndrome,DOID:0050562,, +BMGC_DS09615,BMG_DS035581,Vincent Angina,UMLS ID:C1527368,,,,,,,"Gingivitis, Necrotizing Ulcerative",MeSH ID:D005892,necrotizing ulcerative gingivitis,DOID:13924,, +BMGC_DS09616,BMG_DS035582,Cystic Breast Disease,UMLS ID:C1527375,,,,,,,Fibrocystic Breast Disease,MeSH ID:D005348,,,, +BMGC_DS09617,BMG_DS035583,Morphea,UMLS ID:C1527383,Morphoea | Morphea | Morphoea (disorder) | Morphea | Morphoea | Morphea (disorder) | Localized scleroderma | Localised scleroderma | Localized scleroderma (disorder),SNOMEDCT ID:156452007 | SNOMEDCT ID:201049004 | SNOMEDCT ID:90424004,,,,,"Scleroderma, Localized",MeSH ID:D012594,,,, +BMGC_DS09618,BMG_DS035586,Ogilvie Syndrome,UMLS ID:C1527395,,,,,,,Colonic Pseudo-Obstruction,MeSH ID:D003112,,,, +BMGC_DS09619,BMG_DS035587,Fibrocystic Disease of Pancreas,UMLS ID:C1527396,,,,,,,Cystic Fibrosis,MeSH ID:D003550,,,, +BMGC_DS09620,BMG_DS035590,Rhizomelic pseudopolyarthritis,UMLS ID:C1527406,Polymyalgia rheumatica | Forestier-Certonciny syndrome | Rhizomelic pseudopolyarthritis | Senile arthritis | PMR - Polymyalgia rheumatica | Polymyalgia rheumatica (disorder),SNOMEDCT ID:65323003,,,,,,,,,, +BMGC_DS09621,BMG_DS035591,Eosinophilic Pneumonia,UMLS ID:C1527407,,,,,eosinophilic pneumonia,MONDO:0005749,Pulmonary Eosinophilia,MeSH ID:D011657,eosinophilic pneumonia,DOID:5870,, +BMGC_DS09622,BMG_DS035592,Renal rickets,UMLS ID:C1527410,Renal osteodystrophy | Renal rickets | Renal bone disease | ROD - Renal osteodystrophy | Renal osteodystrophy (disorder) | Renal rickets | Renal rickets (disorder),SNOMEDCT ID:16726004 | SNOMEDCT ID:197667002,"Chronic kidney disease, stage unspecified",ICD11 ID:GB61.Z,,,,,,,ICD10 ID:N25.0,OMIM ID:MTHU038299 +BMGC_DS09623,BMG_DS035593,Thrombosis of retinal vein,UMLS ID:C1527411,Thrombosis of retinal vein | Retinal vein thrombosis | Thrombosis of retinal vein (disorder),SNOMEDCT ID:46085004,,,,,,,,,, +BMGC_DS09624,BMG_DS035594,,UMLS ID:C1527427,,,,,adenocarcinoma of skene gland origin,MONDO:0004173,,,Skene gland carcinoma,DOID:7284,, +BMGC_DS09625,BMG_DS035616,,UMLS ID:C1531719,,,,,atherosclerosis susceptibility,MONDO:0007169,,,,,,OMIM ID:108725 +BMGC_DS09626,BMG_DS035618,Currarino triad,UMLS ID:C1531773,Currarino triad (disorder) | Currarino triad,SNOMEDCT ID:413936007,,,Currarino triad,MONDO:0008305,,MeSH ID:C536221,Currarino syndrome,DOID:0111546,,OMIM ID:176450 +BMGC_DS09627,BMG_DS035650,Disorder of immune function,UMLS ID:C1532237,Disorder of immune function (disorder) | Disorder of immune function | Immune system disorder,SNOMEDCT ID:414029004,,,,,,,,,, +BMGC_DS09628,BMG_DS035662,Infectious Endophthalmitis,UMLS ID:C1532322,,,,,,,Endophthalmitis,MeSH ID:D009877,,,, +BMGC_DS09629,BMG_DS035708,Primary congenital glaucoma,UMLS ID:C1533041,Primary congenital glaucoma (disorder) | Primary congenital glaucoma | Primary infantile glaucoma,SNOMEDCT ID:415176004,,,primary congenital glaucoma,MONDO:0000365,,,,,,OMIM ID:MTHU073627 +BMGC_DS09630,BMG_DS035720,Chronic coronary insufficiency,UMLS ID:C1533195,Chronic myocardial ischemia (disorder) | Chronic myocardial ischemia | Chronic myocardial ischaemia | Chronic coronary insufficiency | Chronic ischemic heart disease | Chronic myocardial ischemia | Chronic coronary insufficiency | Chronic ischaemic heart disease | Chronic myocardial ischaemia | Chronic ischemic heart disease (disorder),SNOMEDCT ID:413844008 | SNOMEDCT ID:84537008,,,,,,,,,, +BMGC_DS09631,BMG_DS035723,Pseudo-Zellweger syndrome,UMLS ID:C1533628,Peroxisomal thiolase deficiency | Pseudo-Zellweger syndrome | 3-Ketoacyl-CoA thiolase deficiency | Peroxisomal thiolase deficiency (disorder),SNOMEDCT ID:238067002,,,,,,MeSH ID:C535818,beta-ketothiolase deficiency,DOID:14723,, +BMGC_DS09632,BMG_DS035730,Disorder of skeletal muscle,UMLS ID:C1533847,Disease of skeletal muscle | Disorder of skeletal muscle | Disorder of skeletal muscle (disorder) | Disorder of skeletal muscle | Disorder of skeletal muscle (disorder),SNOMEDCT ID:75047002 | SNOMEDCT ID:128615009,,,skeletal muscle disorder,MONDO:0020120,,,,,, +BMGC_DS09633,BMG_DS035732,Bleeding of subgingival space,UMLS ID:C1533849,Bleeding of subgingival space | Bleeding of subgingival space (disorder) | Bleeding gums | Gingival bleeding | Gingival crevicular bleeding | Bleeding of subgingival space | Gingival crevice bleeding | Crevicular bleeding of gum | Gingival hemorrhage | Gingival haemorrhage | Bleeding gums (finding),SNOMEDCT ID:109616007 | SNOMEDCT ID:86276007,,,,,,,,,, +BMGC_DS09634,BMG_DS036050,,UMLS ID:C1535893,,,,,neurocirculatory asthenia,MONDO:0001315,,,,,, +BMGC_DS09635,BMG_DS036052,,UMLS ID:C1535926,,,,,neurodevelopmental disorder,MONDO:0700092,,,,,, +BMGC_DS09636,BMG_DS036053,,UMLS ID:C1535939,,,,,pneumocystosis,MONDO:0019121,,,pneumocystosis,DOID:11339,, +BMGC_DS09637,BMG_DS036054,Polyglandular Type III Autoimmune Syndrome,UMLS ID:C1535942,,,,,autoimmune polyendocrinopathy type 3,MONDO:0016422,"Polyendocrinopathies, Autoimmune",MeSH ID:D016884,,,, +BMGC_DS09638,BMG_DS036058,Dysbacteriosis,UMLS ID:C1536021,,,,,,,Dysbiosis,MeSH ID:D064806,,,, +BMGC_DS09639,BMG_DS036069,Central areolar choroidal sclerosis,UMLS ID:C1536451,Central areolar choroidal sclerosis | Central areolar choroidal sclerosis (disorder) | Central areolar choroidal dystrophy,SNOMEDCT ID:231996009,,,central areolar choroidal dystrophy,MONDO:0008982,,MeSH ID:C535358,,,, +BMGC_DS09640,BMG_DS036080,Deficiency of acetyl-CoA acetyltransferase,UMLS ID:C1536500,Deficiency of acetoacetyl-CoA thiolase | Deficiency of acetyl-CoA acetyltransferase | Acetoacetyl-CoA thiolase deficiency | 3-Ketothiolase deficiency | alpha-Methylacetoacetic aciduria | 3-Methylhydroxybutyric acidaemia | 3-Methylhydroxybutyric acidemia | Deficiency of acetyl-coenzyme A acetyltransferase | Deficiency of acetyl-coenzyme A acetyltransferase (disorder),SNOMEDCT ID:124258007,,,beta-ketothiolase deficiency,MONDO:0008760,,,,,,OMIM ID:203750 +BMGC_DS09641,BMG_DS036144,"Chronic obstructive lung disease, NEC",UMLS ID:C1537189,Chronic obstructive lung disease | Chronic airway obstruction | Chronic irreversible airway obstruction | Chronic airflow obstruction | CAFL - Chronic airflow limitation | COAD - Chronic obstructive airways disease | CAO - Chronic airflow obstruction | Chronic airflow limitation | CAL - Chronic airflow limitation | COPD - Chronic obstructive pulmonary disease | Chronic obstructive airway disease | Chronic airway disease | COLD - Chronic obstructive lung disease | Chronic obstructive pulmonary disease | Chronic obstructive pulmonary disease (disorder),SNOMEDCT ID:13645005,,,,,,,,,, +BMGC_DS09642,BMG_DS036273,Pyloric obstruction,UMLS ID:C1541124,Pyloric obstruction | Pyloric obstruction (disorder) | Pyloric obstruction | Gastric outflow obstruction | Pyloric obstruction (disorder),SNOMEDCT ID:302917004 | SNOMEDCT ID:244815007,,,,,,,,,, +BMGC_DS09643,BMG_DS036363,Infective endocarditis,UMLS ID:C1541923,Infective endocarditis | IE - Infective endocarditis | Infective endocarditis (disorder) | Bacterial endocarditis | Bacterial endocarditis (disorder),SNOMEDCT ID:233850007 | SNOMEDCT ID:50194006,,,infective endocarditis,MONDO:0000565,,,,,, +BMGC_DS09644,BMG_DS036424,Pancytopenia-dysmelia syndrome,UMLS ID:C1542664,Fanconi pancytopenia syndrome | Fanconi's anemia | Pancytopenia-dysmelia syndrome | Fanconi's anaemia | Fanconi's anemia (disorder) | Fanconi's hypoplastic anaemia | Fanconi's familial refractory anaemia | Fanconi's hypoplastic anemia | Fanconi's familial refractory anemia | Fanconi anemia | Fanconi anaemia,SNOMEDCT ID:30575002,,,,,,,,,, +BMGC_DS09645,BMG_DS036496,Chronic Kidney Diseases,UMLS ID:C1561643,,,,,chronic kidney disease,MONDO:0005300,"Renal Insufficiency, Chronic",MeSH ID:D051436,,,, +BMGC_DS09646,BMG_DS036497,Overweight and obesity,UMLS ID:C1561826,,,,,,,,,,,ICD10 ID:E66, +BMGC_DS09647,BMG_DS036499,Anemia in chronic kidney disease,UMLS ID:C1561828,Anemia co-occurrent and due to chronic kidney disease | Anaemia co-occurrent and due to chronic kidney disease | Anaemia in chronic kidney disease | Anemia co-occurrent and due to chronic kidney disease (disorder) | Anemia in chronic kidney disease,SNOMEDCT ID:707323002,,,,,,,,,ICD10 ID:D63.1, +BMGC_DS09648,BMG_DS036533,Fleck corneal dystrophy,UMLS ID:C1562113,Fleck corneal dystrophy (disorder) | Fleck corneal dystrophy,SNOMEDCT ID:417183007,,,fleck corneal dystrophy,MONDO:0007376,,,Fleck corneal dystrophy,DOID:0060448,,OMIM ID:121850 +BMGC_DS09649,BMG_DS036559,Ocular histoplasmosis syndrome,UMLS ID:C1562543,Ocular histoplasmosis syndrome (disorder) | Ocular histoplasmosis syndrome | OHS-ocular histoplasmosis syndrome,SNOMEDCT ID:416770009,,,,,,,,,, +BMGC_DS09650,BMG_DS036560,"Leprosy, Multibacillary",UMLS ID:C1562585,,,,,multibacillary leprosy,MONDO:0041751,"Leprosy, Multibacillary",MeSH ID:D056006,,,, +BMGC_DS09651,BMG_DS036566,Acute cerebellar syndrome,UMLS ID:C1562722,Acute cerebellar syndrome (disorder) | Acute cerebellar syndrome,SNOMEDCT ID:417017003,,,,,,,,,, +BMGC_DS09652,BMG_DS036574,Twin reversal arterial perfusion syndrome,UMLS ID:C1562817,Twin reversal arterial perfusion syndrome (disorder) | Twin reversal arterial perfusion syndrome | TRAP- twin reversal arterial perfusion syndrome,SNOMEDCT ID:417006004,,,twin reversal arterial perfusion syndrome,MONDO:0041755,,,,,, +BMGC_DS09653,BMG_DS036581,Thiel-Behnke corneal dystrophy,UMLS ID:C1562894,"Thiel-Behnke corneal dystrophy (disorder) | Thiel-Behnke corneal dystrophy | CDB type II-Corneal dystrophy of Bowman's membrane, type II",SNOMEDCT ID:417065002,,,Thiel-Behnke corneal dystrophy,MONDO:0011185,,MeSH ID:C535942,Thiel-Behnke corneal dystrophy,DOID:0060455,,OMIM ID:602082 +BMGC_DS09654,BMG_DS036584,"Leprosy, Paucibacillary",UMLS ID:C1562908,,,,,paucibacillary leprosy,MONDO:0041752,"Leprosy, Paucibacillary",MeSH ID:D056005,,,, +BMGC_DS09655,BMG_DS036592,Dapsone resistant leprosy,UMLS ID:C1563054,Dapsone resistant leprosy (disorder) | Dapsone resistant leprosy | Dapsone resistant mycobacterium leprae | Diaminodiphenylsulfone resistant leprosy | Diaminodiphenylsulphone resistant leprosy,SNOMEDCT ID:416597004,,,,,,,,,, +BMGC_DS09656,BMG_DS036624,DNA Repair-Deficiency Disorders,UMLS ID:C1563696,,,,,,,DNA Repair-Deficiency Disorders,MeSH ID:D049914,,,, +BMGC_DS09657,BMG_DS036625,Chromosome Instability Syndromes,UMLS ID:C1563697,,,,,,,DNA Repair-Deficiency Disorders,MeSH ID:D049914,,,, +BMGC_DS09658,BMG_DS036626,"Nephrogenic Diabetes Insipidus, Type I",UMLS ID:C1563705,,,,,"diabetes insipidus, nephrogenic, X-linked",MONDO:0010581,"Diabetes Insipidus, Nephrogenic",MeSH ID:D018500,,,,OMIM ID:304800 +BMGC_DS09659,BMG_DS036627,"Nephrogenic Diabetes Insipidus, Type II",UMLS ID:C1563706,,,,,"diabetes insipidus, nephrogenic, autosomal",MONDO:0007451,"Diabetes Insipidus, Nephrogenic",MeSH ID:D018500,,,,OMIM ID:125800 +BMGC_DS09660,BMG_DS036628,Myopathic Ophthalmopathy,UMLS ID:C1563709,,,,,,,Graves Ophthalmopathy,MeSH ID:D049970,Graves ophthalmopathy,DOID:0081120,, +BMGC_DS09661,BMG_DS036629,Andersen Syndrome,UMLS ID:C1563715,,,,,Andersen-Tawil syndrome,MONDO:0008222,Andersen Syndrome,MeSH ID:D050030,Andersen-Tawil syndrome,DOID:0050434,,OMIM ID:170390 +BMGC_DS09662,BMG_DS036630,Genital Infantilism,UMLS ID:C1563718,,,,,,,Sexual Infantilism,MeSH ID:D050035,,,, +BMGC_DS09663,BMG_DS036631,Kallmann Syndrome 1,UMLS ID:C1563719,,,,,hypogonadotropic hypogonadism 1 with or without anosmia,MONDO:0010635,Kallmann Syndrome,MeSH ID:D017436,,,,OMIM ID:308700 +BMGC_DS09664,BMG_DS036632,Kallmann Syndrome 2,UMLS ID:C1563720,,,,,hypogonadotropic hypogonadism 2 with or without anosmia,MONDO:0007844,Kallmann Syndrome,MeSH ID:D017436,,,,OMIM ID:147950 +BMGC_DS09665,BMG_DS036635,"Headache Disorders, Primary",UMLS ID:C1565106,,,,,,,"Headache Disorders, Primary",MeSH ID:D051270,,,, +BMGC_DS09666,BMG_DS036639,Cholera Infantum,UMLS ID:C1565321,,,,,,,Gastrointestinal Diseases,MeSH ID:D005767,,,, +BMGC_DS09667,BMG_DS036640,Renal Insufficiency,UMLS ID:C1565489,,,,,,,Renal Insufficiency,MeSH ID:D051437,,,, +BMGC_DS09668,BMG_DS036641,Acute Kidney Insufficiency,UMLS ID:C1565662,,,,,,,Acute Kidney Injury,MeSH ID:D058186,acute kidney failure,DOID:3021,, +BMGC_DS09669,BMG_DS036642,"Direct Hyperbilirubinemia, Neonatal",UMLS ID:C1565885,,,,,,,"Hyperbilirubinemia, Neonatal",MeSH ID:D051556,,,, +BMGC_DS09670,BMG_DS036643,"Indirect Hyperbilirubinemia, Neonatal",UMLS ID:C1565886,,,,,,,"Hyperbilirubinemia, Neonatal",MeSH ID:D051556,,,, +BMGC_DS09671,BMG_DS036645,,UMLS ID:C1565950,,,,,posterior cranial fossa meningioma,MONDO:0002919,,,posterior fossa meningioma,DOID:4211,, +BMGC_DS09672,BMG_DS036646,Icterus Gravis Neonatorum,UMLS ID:C1566050,,,,,obsolete neonatal jaundice,MONDO:0006584,"Jaundice, Neonatal",MeSH ID:D007567,,,, +BMGC_DS09673,BMG_DS036647,Preterm Premature Rupture of Fetal Membranes,UMLS ID:C1566302,,,,,,,"Fetal Membranes, Premature Rupture",MeSH ID:D005322,,,, +BMGC_DS09674,BMG_DS036648,Unilateral Multicystic Dysplastic Kidney,UMLS ID:C1567426,,,,,unilateral multicystic dysplastic kidney,MONDO:0019981,Multicystic Dysplastic Kidney,MeSH ID:D021782,,,, +BMGC_DS09675,BMG_DS036649,Alport Syndrome,UMLS ID:C1567741,,,,,Alport syndrome,MONDO:0018965,"Nephritis, Hereditary",MeSH ID:D009394,,,, +BMGC_DS09676,BMG_DS036650,"Alport Syndrome, X-Linked",UMLS ID:C1567742,,,,,,,"Nephritis, Hereditary",MeSH ID:D009394,,,, +BMGC_DS09677,BMG_DS036651,"Alport Syndrome, Autosomal Dominant",UMLS ID:C1567743,,,,,,,"Nephritis, Hereditary",MeSH ID:D009394,,,, +BMGC_DS09678,BMG_DS036652,"Alport Syndrome, Autosomal Recessive",UMLS ID:C1567744,,,,,,,"Nephritis, Hereditary",MeSH ID:D009394,,,, +BMGC_DS09679,BMG_DS036653,,UMLS ID:C1568247,,,,,Usher syndrome type 1,MONDO:0010168,,,,,, +BMGC_DS09680,BMG_DS036654,"Usher Syndrome, Type III",UMLS ID:C1568248,,,,,Usher syndrome type 3,MONDO:0016485,Usher Syndromes,MeSH ID:D052245,Usher syndrome type 2 | retinitis pigmentosa-deafness syndrome | Usher syndrome type 3,DOID:0110829;DOID:0110827;DOID:0110828,, +BMGC_DS09681,BMG_DS036655,"Usher Syndrome, Type II",UMLS ID:C1568249,,,,,Usher syndrome type 2D,MONDO:0012662,Usher Syndromes,MeSH ID:D052245,Usher syndrome type 2 | Usher syndrome type 3,DOID:0110827;DOID:0110828,,OMIM ID:611383 +BMGC_DS09682,BMG_DS036656,Tendinopathy,UMLS ID:C1568272,,,,,,,Tendinopathy,MeSH ID:D052256,,,, +BMGC_DS09683,BMG_DS036657,Tendinosis,UMLS ID:C1568363,Tendinosis (disorder) | Tendinosis | Tendinosis (finding) | Tendinosis,SNOMEDCT ID:724152009 | SNOMEDCT ID:430671000124105,,,tendinosis,MONDO:0100011,Tendinopathy,MeSH ID:D052256,,,, +BMGC_DS09684,BMG_DS036658,Oral Mucositis,UMLS ID:C1568868,,,,,,,Stomatitis,MeSH ID:D013280,,,, +BMGC_DS09685,BMG_DS036762,Renotubular acidemia,UMLS ID:C1578594,(Acidemia: [renal] or [renotubular]) or other impaired renal function disorder NOS | Other impaired renal function disorder NOS | Renal acidemia | Renotubular acidemia | (Acidaemia: [renal] or [renotubular]) or other impaired renal function disorder NOS | Renotubular acidaemia | Renal acidaemia | (Acidaemia: [renal] or [renotubular]) or other impaired renal function disorder NOS (disorder) | Renal tubular acidosis | Renal tubular acidosis (disorder) | RTA - Renal tubular acidosis | Renotubular acidaemia | Renotubular acidemia,SNOMEDCT ID:197673001 | SNOMEDCT ID:1776003,,,,,,,,,, +BMGC_DS09686,BMG_DS036782,(Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified),UMLS ID:C1578688,Vulvitis - non sp. | Vulvovaginitis | Vaginitis - non sp. | Vaginitis/vulvovaginitis | Vulvo-vaginitis | Bacterial vaginosis | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder) | Bacterial vaginosis | Vaginitis - non sp. | Vulvitis - non sp. | Vulvovaginitis | Vaginitis/vulvovaginitis | Vulvo-vaginitis | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) | (Vaginitis &/or vulvovaginitis (& non specified)) or (bacterial vaginosis) or (vulvitis non specified) (disorder),SNOMEDCT ID:266655004 | SNOMEDCT ID:155981006,,,,,,,,,, +BMGC_DS09687,BMG_DS036785,"Myxedema, Congenital",UMLS ID:C1578691,,,,,,,Congenital Hypothyroidism,MeSH ID:D003409,,,, +BMGC_DS09688,BMG_DS036825,,UMLS ID:C1578917,,,,,islet cell adenomatosis,MONDO:0007834,,,,,,OMIM ID:147630 +BMGC_DS09689,BMG_DS036844,Chronic uremia,UMLS ID:C1579029,"Chronic uremia | Chronic uraemia | Chronic uremia (disorder) | Renal failure: [chronic] or [end stage] | End stage renal failure | Renal failure - chronic | Renal failure (chronic) | Chronic renal failure | Failure, renal -chronic | Chronic uremia | Uremia - chronic | Chronic uraemia | Uraemia - chronic | Renal failure: [chronic] or [end stage] (disorder) | Chronic uremia | Uremia - chronic | Chronic uraemia | Uraemia - chronic | Renal failure: [chronic] or [end stage] | Failure, renal -chronic | Renal failure (chronic) | Chronic renal failure | Renal failure - chronic | End stage renal failure | Renal failure: [chronic] or [end stage] (disorder) | Chronic renal failure syndrome | Chronic uraemia | Chronic uremia | CRF - Chronic renal failure | Chronic renal failure | Chronic renal failure syndrome (disorder)",SNOMEDCT ID:35533001 | SNOMEDCT ID:155856009 | SNOMEDCT ID:197654000 | SNOMEDCT ID:90688005,,,,,,,,,, +BMGC_DS09690,BMG_DS036923,Megacystis microcolon intestinal hypoperistalsis syndrome,UMLS ID:C1608393,,,,,megacystis-microcolon-intestinal hypoperistalsis syndrome,MONDO:0025986,,MeSH ID:C536138,megacystis-microcolon-intestinal hypoperistalsis syndrome,DOID:0060610,, +BMGC_DS09691,BMG_DS036927,Mycobacterium abscessus Infection,UMLS ID:C1608955,,,,,,,"Mycobacterium Infections, Nontuberculous",MeSH ID:D009165,,,, +BMGC_DS09692,BMG_DS036929,Congenital absence of kidneys syndrome,UMLS ID:C1609433,Oligohydramnios sequence | Potter syndrome | Renofacial syndrome | Renal agenesis syndrome | Congenital absence of kidneys syndrome | Oligohydramnios sequence (disorder) | BRA - Bilateral renal agenesis | Potter's anomaly of the kidney | Bilateral congenital absence of kidneys,SNOMEDCT ID:41962002,,,bilateral renal agenesis,MONDO:0015986,,,,,, +BMGC_DS09693,BMG_DS036931,Latent Tuberculosis,UMLS ID:C1609538,,,,,latent tuberculosis infection,MONDO:0040753,Latent Tuberculosis,MeSH ID:D055985,,,, +BMGC_DS09694,BMG_DS036943,Nephrogenic Fibrosing Dermopathy,UMLS ID:C1619692,,,,,,,Nephrogenic Fibrosing Dermopathy,MeSH ID:D054989,,,, +BMGC_DS09695,BMG_DS036944,,UMLS ID:C1619700,,,,,renal hypodysplasia/aplasia 1,MONDO:0024519,,,,,,OMIM ID:191830 +BMGC_DS09696,BMG_DS036945,Decompensated cirrhosis of liver,UMLS ID:C1619727,Decompensated cirrhosis of liver (disorder) | Decompensated cirrhosis of liver | Decompensated cirrhosis,SNOMEDCT ID:716203000,,,,,,,,,, +BMGC_DS09697,BMG_DS036946,Gout flare,UMLS ID:C1619733,,,,,,,,,,,ICD10 ID:M10, +BMGC_DS09698,BMG_DS036953,Partial atrioventricular block,UMLS ID:C1621824,Incomplete atrioventricular block | Partial atrioventricular block | Incomplete heart block | Second degree heart block | Partial heart block | Incomplete atrioventricular block (disorder) | Partial atrioventricular block | Partial atrioventricular block (disorder) | Partial atrioventricular block | Partial atrioventricular block (disorder) | Incomplete atrioventricular block | Incomplete heart block | Partial heart block,SNOMEDCT ID:69886008 | SNOMEDCT ID:155356003 | SNOMEDCT ID:195039008,,,,,,,,,, +BMGC_DS09699,BMG_DS036955,Adrenal hyperplasia,UMLS ID:C1621895,Adrenal hyperplasia (disorder) | Adrenal hyperplasia,SNOMEDCT ID:419920004,,,,,,,,,,OMIM ID:MTHU014670 +BMGC_DS09700,BMG_DS036956,Intermediate Maple Syrup Urine Disease,UMLS ID:C1621920,,,,,intermediate maple syrup urine disease,MONDO:0017052,Maple Syrup Urine Disease,MeSH ID:D008375,,,, +BMGC_DS09701,BMG_DS036957,Meretoja syndrome,UMLS ID:C1622345,Meretoja syndrome (disorder) | Meretoja syndrome | Amyloid cranial neuropathy with lattice corneal dystrophy | Meretoja type amyloidosis,SNOMEDCT ID:419398009,,,Finnish type amyloidosis,MONDO:0007097,,MeSH ID:C537459,,,,OMIM ID:105120 +BMGC_DS09702,BMG_DS036959,"Corneal Dystrophy, Central Type",UMLS ID:C1622427,,,,,central cloudy dystrophy of François,MONDO:0009018,,MeSH ID:C563262,,,,OMIM ID:217600 +BMGC_DS09703,BMG_DS036963,Cirrhosis,UMLS ID:C1623038,,,,,,,Fibrosis,MeSH ID:D005355,,,, +BMGC_DS09704,BMG_DS036964,Okihiro Syndrome,UMLS ID:C1623209,,,,,Duane-radial ray syndrome,MONDO:0011812,Duane Retraction Syndrome,MeSH ID:D004370,,,,OMIM ID:607323 +BMGC_DS09705,BMG_DS036995,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY",UMLS ID:C1631597,,,,,catecholaminergic polymorphic ventricular tachycardia 1,MONDO:0011484,,,,,,OMIM ID:604772 | OMIM ID:600996 | OMIM ID:604772 +BMGC_DS09706,BMG_DS036996,Complicated appendicitis,UMLS ID:C1632842,Complicated appendicitis (disorder) | Complicated appendicitis,SNOMEDCT ID:418171008,,,,,,,,,, +BMGC_DS09707,BMG_DS037005,"Macular dystrophy, corneal type 1",UMLS ID:C1636149,,,,,macular corneal dystrophy,MONDO:0009020,,MeSH ID:C537834,,,,OMIM ID:217800 +BMGC_DS09708,BMG_DS037026,Groenouw corneal dystrophy type I (disorder),UMLS ID:C1641846,Groenouw corneal dystrophy type I | Granular corneal dystrophy type I | Granular corneal dystrophy type I (disorder),SNOMEDCT ID:419039007,,,granular corneal dystrophy type I,MONDO:0007377,,,,,,OMIM ID:121900 +BMGC_DS09709,BMG_DS037035,Ectopia Lentis with Ectopia of Pupil,UMLS ID:C1644196,,,,,ectopia lentis et pupillae,MONDO:0009153,,MeSH ID:C563268,ectopia lentis with ectopia of pupil,DOID:0111648,,OMIM ID:225200 +BMGC_DS09710,BMG_DS037038,,UMLS ID:C1656427,,,,,early-onset schizophrenia,MONDO:0019939,,,,,, +BMGC_DS09711,BMG_DS037057,Intraoperative floppy iris syndrome,UMLS ID:C1688637,Intraoperative floppy iris syndrome | IFIS - intraoperative floppy iris syndrome | Intraoperative floppy iris syndrome (disorder),SNOMEDCT ID:418801006,,,intraoperative floppy iris syndrome,MONDO:0041775,,,,,, +BMGC_DS09712,BMG_DS037063,Lattice corneal dystrophy Type I,UMLS ID:C1690006,Lattice corneal dystrophy Type I (disorder) | Lattice corneal dystrophy Type I | Biber-Haab-Dimmer dystrophy,SNOMEDCT ID:419197009,,,lattice corneal dystrophy type I,MONDO:0007380,,,,,,OMIM ID:122200 +BMGC_DS09713,BMG_DS037073,Macular corneal dystrophy Type II (disorder),UMLS ID:C1691013,Macular corneal dystrophy Type II (disorder) | Macular corneal dystrophy Type II,SNOMEDCT ID:418435001,,,,,,,,,, +BMGC_DS09714,BMG_DS037077,Cystic Kidney Diseases,UMLS ID:C1691228,,,,,,,"Kidney Diseases, Cystic",MeSH ID:D052177,,,, +BMGC_DS09715,BMG_DS037084,"Arthritis, Bacterial",UMLS ID:C1692886,,,,,bacterial arthritis,MONDO:0004471,"Arthritis, Infectious",MeSH ID:D001170,,,, +BMGC_DS09716,BMG_DS037088,Bacterial tonsillitis,UMLS ID:C1696371,Bacterial tonsillitis | Bacterial tonsillitis (disorder),SNOMEDCT ID:703468005,,,,,,,,,, +BMGC_DS09717,BMG_DS037092,Spontaneous hematomas,UMLS ID:C1697453,,,,,,,,,,,,OMIM ID:MTHU047994 +BMGC_DS09718,BMG_DS037093,BK virus nephropathy,UMLS ID:C1697878,Kidney disease caused by BK polyomavirus | Nephropathy caused by BK polyomavirus (disorder) | Nephropathy caused by BK polyomavirus | BK virus nephropathy,SNOMEDCT ID:713886006,,,BK-virus nephropathy,MONDO:0022529,,,Polyomavirus-associated nephropathy,DOID:0040086,, +BMGC_DS09719,BMG_DS037096,Bacterial otitis media,UMLS ID:C1698510,Bacterial otitis media (disorder) | Bacterial otitis media,SNOMEDCT ID:703469002,,,,,,,,,, +BMGC_DS09720,BMG_DS037097,Bacterial otitis externa,UMLS ID:C1699099,Bacterial otitis externa | Otitis externa caused by bacteria (disorder) | Otitis externa caused by bacteria,SNOMEDCT ID:280221000009107,,,,,,,,,, +BMGC_DS09721,BMG_DS037099,"Pneumonia, Ventilator-Associated",UMLS ID:C1701940,,,,,,,"Pneumonia, Ventilator-Associated",MeSH ID:D053717,,,, +BMGC_DS09722,BMG_DS037104,,UMLS ID:C1704231,,,,,neoplastic meningitis,MONDO:0700219,,,,,, +BMGC_DS09723,BMG_DS037106,,UMLS ID:C1704272,,,,,benign prostatic hyperplasia,MONDO:0010811,,,,,,OMIM ID:600082 +BMGC_DS09724,BMG_DS037109,Pyomyositis,UMLS ID:C1704275,Tropical pyomyositis | Tropical myositis | Pyomyositis | Tropical pyomyositis (disorder),SNOMEDCT ID:65110003,,,,,Pyomyositis,MeSH ID:D052880,,,, +BMGC_DS09725,BMG_DS037110,"Hypobetalipoproteinemia, Familial, Apolipoprotein B",UMLS ID:C1704299,,,,,,,"Hypobetalipoproteinemia, Familial, Apolipoprotein B",MeSH ID:D052476,,,, +BMGC_DS09726,BMG_DS037111,Leukokeratosis,UMLS ID:C1704317,Leukokeratosis (disorder) | Leucokeratosis | Leukokeratosis | Leukokeratosis | Keratotic plaque | Leukokeratosis (morphologic abnormality),SNOMEDCT ID:773540001 | SNOMEDCT ID:9187004,,,,,Leukoplakia,MeSH ID:D007971,,,, +BMGC_DS09727,BMG_DS037112,"Nephrotic Syndrome, Minimal Change",UMLS ID:C1704321,,,,,,,"Nephrosis, Lipoid",MeSH ID:D009402,,,, +BMGC_DS09728,BMG_DS037116,Dental Diseases,UMLS ID:C1704330,,,,,,,Stomatognathic Diseases,MeSH ID:D009057,,,, +BMGC_DS09729,BMG_DS037117,Hypophosphatemic Rickets,UMLS ID:C1704375,,,,,hypophosphatemic rickets,MONDO:0024300,"Rickets, Hypophosphatemic",MeSH ID:D063730,,,, +BMGC_DS09730,BMG_DS037119,Bright Disease,UMLS ID:C1704377,,,,,,,Glomerulonephritis,MeSH ID:D005921,,,, +BMGC_DS09731,BMG_DS037120,Heymann Nephritis,UMLS ID:C1704378,,,,,,,"Glomerulonephritis, Membranous",MeSH ID:D015433,,,, +BMGC_DS09732,BMG_DS037121,Distal Renal Tubular Acidosis,UMLS ID:C1704380,,,,,distal renal tubular acidosis,MONDO:0015827,"Acidosis, Renal Tubular",MeSH ID:D000141,,,, +BMGC_DS09733,BMG_DS037123,Hyperlipoproteinemia Type IIb,UMLS ID:C1704417,,,,,"hypercholesterolemia, autosomal dominant, type B",MONDO:0007751,Hyperlipoproteinemia Type II,MeSH ID:D006938,,,,OMIM ID:144010 +BMGC_DS09734,BMG_DS037125,Milroy Disease,UMLS ID:C1704423,,,,,lymphatic malformation 1,MONDO:0007919,Lymphedema,MeSH ID:D008209,hereditary lymphedema I,DOID:0070212,,OMIM ID:153100 +BMGC_DS09735,BMG_DS037126,Hereditary lymphedema type II,UMLS ID:C1704424,Hereditary lymphedema type II (disorder) | Hereditary lymphoedema type II | Hereditary lymphedema type II | Meige lymphoedema | Meige lymphedema | Meige disease,SNOMEDCT ID:400040008,,,,,,,hereditary lymphedema II,DOID:0070213,, +BMGC_DS09736,BMG_DS037128,"Hypoalphalipoproteinemia, Familial",UMLS ID:C1704429,,,,,,,Hypoalphalipoproteinemias,MeSH ID:D052456,,,, +BMGC_DS09737,BMG_DS037129,Urinary Schistosomiasis,UMLS ID:C1704430,,,,,urinary schistosomiasis,MONDO:0006001,Schistosomiasis haematobia,MeSH ID:D012553,,,, +BMGC_DS09738,BMG_DS037130,Peripheral Arterial Diseases,UMLS ID:C1704436,,,,,peripheral arterial disease,MONDO:0005386,Peripheral Arterial Disease,MeSH ID:D058729,peripheral artery disease,DOID:0050830,, +BMGC_DS09739,BMG_DS037133,Hyperparathyroidism-Jaw Tumor Syndrome,UMLS ID:C1704981,,,,,hyperparathyroidism 2 with jaw tumors,MONDO:0007768,,MeSH ID:C563273,,,,OMIM ID:145001 +BMGC_DS09740,BMG_DS037141,"Pachyonychia Congenita, Jadassohn Lewandowsky Type",UMLS ID:C1706595,,,,,pachyonychia congenita 1,MONDO:0008173,Pachyonychia Congenita,MeSH ID:D053549,pachyonychia congenita,DOID:0050449,,OMIM ID:167200 +BMGC_DS09741,BMG_DS037142,,UMLS ID:C1706731,,,,,adult myxoid chondrosarcoma,MONDO:0003899,,,adult extraskeletal myxoid chondrosarcoma,DOID:7902,, +BMGC_DS09742,BMG_DS037143,,UMLS ID:C1706762,,,,,aldosterone-producing adrenal cortex adenoma,MONDO:0016505,,,,,, +BMGC_DS09743,BMG_DS037147,,UMLS ID:C1707291,,,,,nut midline carcinoma,MONDO:0005563,,,NUT midline carcinoma,DOID:0060463,, +BMGC_DS09744,BMG_DS037150,,UMLS ID:C1707400,,,,,classic medulloblastoma,MONDO:0016712,,,,,, +BMGC_DS09745,BMG_DS037164,,UMLS ID:C1708349,,,,,hereditary diffuse gastric adenocarcinoma,MONDO:0007648,,,,,, +BMGC_DS09746,BMG_DS037165,,UMLS ID:C1708350,,,,,hereditary leiomyomatosis and renal cell cancer,MONDO:0007888,,,,,,OMIM ID:150800 +BMGC_DS09747,BMG_DS037166,,UMLS ID:C1708353,,,,,hereditary pheochromocytoma-paraganglioma,MONDO:0017366,,,,,, +BMGC_DS09748,BMG_DS037168,,UMLS ID:C1708371,,,,,histiocytoid cardiomyopathy,MONDO:0010771,,,,,,OMIM ID:500000 +BMGC_DS09749,BMG_DS037177,,UMLS ID:C1708781,,,,,lung sarcomatoid carcinoma,MONDO:0006279,,,,,, +BMGC_DS09750,BMG_DS037185,Osteofibrous Dysplasia,UMLS ID:C1709353,,,,,,,,MeSH ID:C563276,,,, +BMGC_DS09751,BMG_DS037198,,UMLS ID:C1710096,,,,,sinonasal undifferentiated carcinoma,MONDO:0006411,,,,,, +BMGC_DS09752,BMG_DS037203,Familial spinal arachnoiditis,UMLS ID:C1710146,,,,,spinal arachnoiditis,MONDO:0008450,,MeSH ID:C531624,,,,OMIM ID:182950 +BMGC_DS09753,BMG_DS037208,,UMLS ID:C1711221,,,,,melanoma in congenital melanocytic nevus,MONDO:0850110,,,melanoma in congenital melanocytic nevus,DOID:0070327,, +BMGC_DS09754,BMG_DS037220,Acquired torsion dystonia,UMLS ID:C1719382,Acquired torsion dystonia (disorder) | Acquired torsion dystonia,SNOMEDCT ID:433493000,,,acquired torsion dystonia,MONDO:0044870,,,,,, +BMGC_DS09755,BMG_DS037224,Idiopathic transverse myelitis,UMLS ID:C1719404,Idiopathic transverse myelitis (disorder) | Idiopathic transverse myelitis,SNOMEDCT ID:425756000,,,,,,,,,, +BMGC_DS09756,BMG_DS037249,Severe Sepsis,UMLS ID:C1719672,,,,,,,Sepsis,MeSH ID:D018805,,,, +BMGC_DS09757,BMG_DS037262,Episodic ataxia type 1,UMLS ID:C1719788,Episodic ataxia type 1 (disorder) | Episodic ataxia type 1 | Episodic ataxia type 1 (EA1),SNOMEDCT ID:421182009,,,episodic ataxia type 1,MONDO:0008047,,,,,,OMIM ID:160120 +BMGC_DS09758,BMG_DS037279,Meningitis caused by Klebsiella aerogenes,UMLS ID:C1719906,Meningitis caused by Klebsiella mobilis | Meningitis caused by Enterobacter aerogenes | Meningitis caused by Aerobacter aerogenes | Meningitis caused by Klebsiella aerogenes | Meningitis caused by Klebsiella aerogenes (disorder),SNOMEDCT ID:420585007,,,,,,,,,, +BMGC_DS09759,BMG_DS037284,Disorder due to type 2 diabetes mellitus,UMLS ID:C1719939,Disorder due to type 2 diabetes mellitus (disorder) | Disorder due to type 2 diabetes mellitus | Disorder due to type II diabetes mellitus,SNOMEDCT ID:422014003,,,,,,,,,, +BMGC_DS09760,BMG_DS037305,Gastrointestinal infection caused by Klebsiella aerogenes,UMLS ID:C1720135,Gastrointestinal infection caused by Klebsiella mobilis | Gastrointestinal infection caused by Enterobacter aerogenes | Gastrointestinal infection caused by Aerobacter aerogenes | Gastrointestinal infection caused by Klebsiella aerogenes | Gastrointestinal infection caused by Klebsiella aerogenes (disorder),SNOMEDCT ID:421429008,,,,,,,,,, +BMGC_DS09761,BMG_DS037309,Herpes zoster with AIDS (acquired immunodeficiency syndrome),UMLS ID:C1720144,Herpes zoster with acquired immunodeficiency syndrome (disorder) | Herpes zoster with AIDS (acquired immunodeficiency syndrome) | Herpes zoster with acquired immunodeficiency syndrome,SNOMEDCT ID:422127002,,,,,,,,,, +BMGC_DS09762,BMG_DS037318,Episodic Ataxia,UMLS ID:C1720189,,,,,hereditary episodic ataxia,MONDO:0016227,,MeSH ID:C580065,episodic ataxia,DOID:963,, +BMGC_DS09763,BMG_DS037342,"Episodic Ataxia, Type 2",UMLS ID:C1720416,,,,,episodic ataxia type 2,MONDO:0007163,,MeSH ID:C535506,episodic ataxia type 2,DOID:0050990,,OMIM ID:108500 +BMGC_DS09764,BMG_DS037352,Toxoplasmosis associated with acquired immunodeficiency syndrome,UMLS ID:C1720498,Toxoplasmosis associated with AIDS | Toxoplasmosis associated with acquired immunodeficiency syndrome (disorder) | Toxoplasmosis associated with acquired immunodeficiency syndrome,SNOMEDCT ID:421666009,,,,,,,,,, +BMGC_DS09765,BMG_DS037353,Adult growth hormone deficiency,UMLS ID:C1720505,Adult growth hormone deficiency (disorder) | Adult growth hormone deficiency,SNOMEDCT ID:421684006,,,,,,,,,, +BMGC_DS09766,BMG_DS037381,,UMLS ID:C1720771,,,,,hydrocele,MONDO:0004920,,,,,, +BMGC_DS09767,BMG_DS037382,Hypoprebetalipoproteinemia,UMLS ID:C1720772,,,,,,,Hypolipoproteinemias,MeSH ID:D007009,,,, +BMGC_DS09768,BMG_DS037383,Glomerular Necrosis,UMLS ID:C1720774,,,,,,,Kidney Cortex Necrosis,MeSH ID:D007673,,,, +BMGC_DS09769,BMG_DS037385,,UMLS ID:C1720779,,,,,familial apolipoprotein C-II deficiency,MONDO:0008810,,,familial apolipoprotein C-II deficiency,DOID:0111418,,OMIM ID:207750 +BMGC_DS09770,BMG_DS037386,"Meningitis, Pneumococcal, Recurrent",UMLS ID:C1720785,,,,,,,"Meningitis, Pneumococcal",MeSH ID:D008586,,,, +BMGC_DS09771,BMG_DS037387,Acute Bacterial Prostatitis,UMLS ID:C1720795,,,,,,,Prostatitis,MeSH ID:D011472,,,, +BMGC_DS09772,BMG_DS037388,Asymptomatic Inflammatory Prostatitis,UMLS ID:C1720796,,,,,,,Prostatitis,MeSH ID:D011472,,,, +BMGC_DS09773,BMG_DS037389,Chronic Bacterial Prostatitis,UMLS ID:C1720797,,,,,,,Prostatitis,MeSH ID:D011472,,,, +BMGC_DS09774,BMG_DS037390,"Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",UMLS ID:C1720802,,,,,,,Refsum Disease,MeSH ID:D012035,,,, +BMGC_DS09775,BMG_DS037392,Endometrial Diseases,UMLS ID:C1720816,,,,,,,Uterine Diseases,MeSH ID:D014591,,,, +BMGC_DS09776,BMG_DS037393,"Membranoproliferative Glomerulonephritis, Type III",UMLS ID:C1720821,,,,,,,"Glomerulonephritis, Membranoproliferative",MeSH ID:D015432,,,, +BMGC_DS09777,BMG_DS037394,,UMLS ID:C1720824,,,,,sudden cardiac arrest,MONDO:0100511,,,,,, +BMGC_DS09778,BMG_DS037395,Painful Bladder Syndrome,UMLS ID:C1720830,,,,,,,"Cystitis, Interstitial",MeSH ID:D018856,,,, +BMGC_DS09779,BMG_DS037397,"Familial Partial Lipodystrophy, Type 1",UMLS ID:C1720859,,,,,"familial partial lipodystrophy, Kobberling type",MONDO:0012072,"Lipodystrophy, Familial Partial",MeSH ID:D052496,familial partial lipodystrophy type 1 | familial partial lipodystrophy,DOID:0070207;DOID:0050440,,OMIM ID:608600 +BMGC_DS09780,BMG_DS037398,"Familial Partial Lipodystrophy, Type 2",UMLS ID:C1720860,,,,,"familial partial lipodystrophy, Dunnigan type",MONDO:0007906,"Lipodystrophy, Familial Partial",MeSH ID:D052496,familial partial lipodystrophy type 2 | familial partial lipodystrophy,DOID:0070202;DOID:0050440,,OMIM ID:151660 +BMGC_DS09781,BMG_DS037399,"Familial Partial Lipodystrophy, Type 3",UMLS ID:C1720861,,,,,PPARG-related familial partial lipodystrophy,MONDO:0011448,"Lipodystrophy, Familial Partial",MeSH ID:D052496,familial partial lipodystrophy type 3 | familial partial lipodystrophy,DOID:0070204;DOID:0050440,,OMIM ID:604367 +BMGC_DS09782,BMG_DS037400,Congenital Generalized Lipodystrophy Type 1,UMLS ID:C1720862,,,,,congenital generalized lipodystrophy type 1,MONDO:0012071,"Lipodystrophy, Congenital Generalized",MeSH ID:D052497,,,,OMIM ID:608594 +BMGC_DS09783,BMG_DS037401,,UMLS ID:C1720863,,,,,congenital generalized lipodystrophy type 2,MONDO:0010020,,,,,,OMIM ID:269700 +BMGC_DS09784,BMG_DS037402,"Sulfatidosis, Juvenile, Austin Type",UMLS ID:C1720864,,,,,,,Multiple Sulfatase Deficiency Disease,MeSH ID:D052517,mucosulfatidosis,DOID:0050441,, +BMGC_DS09785,BMG_DS037403,Female Urogenital Diseases,UMLS ID:C1720887,,,,,,,Female Urogenital Diseases,MeSH ID:D052776,,,, +BMGC_DS09786,BMG_DS037404,Male Urogenital Diseases,UMLS ID:C1720894,,,,,,,Male Urogenital Diseases,MeSH ID:D052801,,,, +BMGC_DS09787,BMG_DS037405,"Hyper-IgM Immunodeficiency Syndrome, Type 2",UMLS ID:C1720956,,,,,hyper-IgM syndrome type 2,MONDO:0011528,Hyper-IgM Immunodeficiency Syndrome,MeSH ID:D053306,immunodeficiency with hyper-IgM type 2,DOID:0060758,,OMIM ID:605258 +BMGC_DS09788,BMG_DS037406,"Hyper-IgM Immunodeficiency Syndrome, Type 3",UMLS ID:C1720957,,,,,hyper-IgM syndrome type 3,MONDO:0011735,Hyper-IgM Immunodeficiency Syndrome,MeSH ID:D053306,immunodeficiency with hyper IgM type 3,DOID:0060023,,OMIM ID:606843 +BMGC_DS09789,BMG_DS037407,"Hyper-IgM Immunodeficiency Syndrome, Type 5",UMLS ID:C1720958,,,,,hyper-IgM syndrome type 5,MONDO:0011971,Hyper-IgM Immunodeficiency Syndrome,MeSH ID:D053306,immunodeficiency with hyper IgM type 5,DOID:0060759,,OMIM ID:608106 +BMGC_DS09790,BMG_DS037408,"Ectodermal Dysplasia 3, Anhidrotic",UMLS ID:C1720965,,,,,,,"Ectodermal Dysplasia 3, Anhidrotic",MeSH ID:D053359,,,, +BMGC_DS09791,BMG_DS037409,Channelopathies,UMLS ID:C1720983,,,,,obsolete channelopathy,MONDO:0021016,Channelopathies,MeSH ID:D053447,,,, +BMGC_DS09792,BMG_DS037411,"Leukokeratosis, Hereditary Mucosal",UMLS ID:C1721005,,,,,hereditary mucosal leukokeratosis,MONDO:0015748,"Leukokeratosis, Hereditary Mucosal",MeSH ID:D053529,white sponge nevus,DOID:0050448,, +BMGC_DS09793,BMG_DS037412,"Keratoderma, Palmoplantar, Epidermolytic",UMLS ID:C1721006,,,,,"palmoplantar keratoderma, epidermolytic",MONDO:0968949,"Keratoderma, Palmoplantar, Epidermolytic",MeSH ID:D053546,epidermolytic palmoplantar keratoderma,DOID:0080223,, +BMGC_DS09794,BMG_DS037413,"Pachyonychia Congenita, Type 2",UMLS ID:C1721007,,,,,pachyonychia congenita 2,MONDO:0008174,Pachyonychia Congenita,MeSH ID:D053549,pachyonychia congenita,DOID:0050449,,OMIM ID:167210 +BMGC_DS09795,BMG_DS037415,Paraneoplastic Opsoclonus-Myoclonus Ataxia,UMLS ID:C1721017,,,,,,,Opsoclonus-Myoclonus Syndrome,MeSH ID:D053578,,,, +BMGC_DS09796,BMG_DS037417,,UMLS ID:C1721096,,,,,,,,,Brugada syndrome,DOID:0050451,, +BMGC_DS09797,BMG_DS037418,Chronic Prostatitis with Chronic Pelvic Pain Syndrome,UMLS ID:C1723764,,,,,,,Prostatitis,MeSH ID:D011472,,,, +BMGC_DS09798,BMG_DS037420,Migraine with Typical Aura,UMLS ID:C1735856,,,,,,,Migraine with Aura,MeSH ID:D020325,,,, +BMGC_DS09799,BMG_DS037423,Bland White Garland Syndrome,UMLS ID:C1735886,,,,,anomalous left coronary artery from the pulmonary artery,MONDO:0000811,Bland White Garland Syndrome,MeSH ID:D063748,anomalous left coronary artery from the pulmonary artery,DOID:0060562,, +BMGC_DS09800,BMG_DS037434,Latent Autoimmune Diabetes in Adults,UMLS ID:C1739108,,,,,latent autoimmune diabetes in adults,MONDO:0850306,Latent Autoimmune Diabetes in Adults,MeSH ID:D000071698,latent autoimmune diabetes in adults,DOID:0080846,, +BMGC_DS09801,BMG_DS037436,Prostatic Hypertrophy,UMLS ID:C1739363,,,,,,,Prostatic Hyperplasia,MeSH ID:D011470,,,, +BMGC_DS09802,BMG_DS037437,,UMLS ID:C1739384,,,,,Angel-shaped phalango-epiphyseal dysplasia,MONDO:0007114,,,,,,OMIM ID:105835 +BMGC_DS09803,BMG_DS037438,Takotsubo Cardiomyopathy,UMLS ID:C1739395,,,,,Tako-tsubo cardiomyopathy,MONDO:0019018,Takotsubo Cardiomyopathy,MeSH ID:D054549,,,, +BMGC_DS09804,BMG_DS037442,Congenital ectodermal dysplasia of face,UMLS ID:C1744559,Congenital ectodermal dysplasia of face | Congenital ectodermal dysplasia of face (disorder),SNOMEDCT ID:239051001,,,focal facial dermal dysplasia type III,MONDO:0009203,,,,,,OMIM ID:227260 +BMGC_DS09805,BMG_DS037446,Aspiration pneumonitis,UMLS ID:C1761609,Aspiration pneumonitis | Aspiration pneumonitis (disorder) | Aspiration pneumonia | Inhalation pneumonia | Aspiration pneumonitis | Aspiration pneumonia (disorder),SNOMEDCT ID:155597006 | SNOMEDCT ID:47839005,,,aspiration pneumonitis,MONDO:0002572,,,,,, +BMGC_DS09806,BMG_DS037447,RAPP-HODGKIN SYNDROME,UMLS ID:C1785148,,,,,Rapp-Hodgkin syndrome,MONDO:0007508,,,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,DOID:0090119,,OMIM ID:129400 | OMIM ID:603273 +BMGC_DS09807,BMG_DS037448,Idiopathic Pulmonary Fibrosis,UMLS ID:C1800706,,,,,,,Idiopathic Pulmonary Fibrosis,MeSH ID:D054990,idiopathic pulmonary fibrosis,DOID:0050156,, +BMGC_DS09808,BMG_DS037449,Congenital muscular hypertrophy-cerebral syndrome,UMLS ID:C1802395,Congenital muscular hypertrophy-cerebral syndrome | Bruch-de Lange syndrome | Congenital muscular hypertrophy-cerebral syndrome (disorder),SNOMEDCT ID:55016009,,,Cornelia de Lange syndrome 2,MONDO:0010370,,,,,,OMIM ID:300590 +BMGC_DS09809,BMG_DS037452,Familial benign hypercalcemia,UMLS ID:C1809471,Familial hypocalciuric hypercalcaemia | Familial hypocalciuric hypercalcemia | Familial hypocalciuric hypercalcemia (disorder) | Familial benign hypercalcaemia | Familial benign hypercalcemia | FHH - familial hypocalciuric hypercalcaemia | FHH - familial hypocalciuric hypercalcemia | Familial benign hypercalcemia | Familial benign hypercalcaemia | Familial benign hypercalcemia (disorder) | Familial hyperparathyroidism | Familial hyperparathyroidism (disorder),SNOMEDCT ID:237885008 | SNOMEDCT ID:190868007 | SNOMEDCT ID:54920000,,,familial hypocalciuric hypercalcemia,MONDO:0018458,,,,,, +BMGC_DS09810,BMG_DS037454,Variola major,UMLS ID:C1812609,Variola major | Classical smallpox | Variola major (disorder) | Ordinary smallpox | Pseudocowpox | Fifth disease | Other viral exanthemata | Roseola infantum | Variola major | Cowpox | Parascarlatina | Fourth disease | Milkers' node | Milker's node | Smallpox | Orf | (Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder) | Cowpox | Milker's node | Smallpox | Orf | Roseola infantum | Variola major | Other viral exanthemata | Fourth disease | Milkers' node | Fifth disease | Parascarlatina | Pseudocowpox | (Viral exanthemata [& variants]) or (orf) or (milkers node) | (Viral exanthemata [& variants]) or (orf) or (milkers node) (disorder),SNOMEDCT ID:47452006 | SNOMEDCT ID:266193008 | SNOMEDCT ID:154344005,,,variola major infectious disease,MONDO:0000338,,,variola major,DOID:0050508,, +BMGC_DS09811,BMG_DS037455,"DEAFNESS, AUTOSOMAL RECESSIVE 70",UMLS ID:C1824925,,,,,autosomal recessive nonsyndromic hearing loss 70,MONDO:0013978,,,,,,OMIM ID:610316 | OMIM ID:614934 +BMGC_DS09812,BMG_DS037478,Decompensated chronic heart failure,UMLS ID:C1827266,Decompensated chronic heart failure (disorder) | Decompensated chronic heart failure,SNOMEDCT ID:424404003,,,,,,,,,, +BMGC_DS09813,BMG_DS037482,Extensively Drug-Resistant Tuberculosis,UMLS ID:C1827301,,,,,extensively drug-resistant tuberculosis,MONDO:0100482,Extensively Drug-Resistant Tuberculosis,MeSH ID:D054908,,,, +BMGC_DS09814,BMG_DS037488,Poor metabolizer due to cytochrome p450 CYP2C9 variant,UMLS ID:C1827367,Poor metabolizer due to cytochrome p450 CYP2C9 variant (disorder) | Poor metabolizer due to cytochrome p450 CYP2C9 variant | Poor metabolizer due to CYP2C9,SNOMEDCT ID:424451001,,,,,,,,,, +BMGC_DS09815,BMG_DS037492,Slow acetylator due to N-acetyltransferase enzyme variant,UMLS ID:C1827377,Slow acetylator due to N-acetyltransferase enzyme variant (disorder) | Slow acetylator due to N-acetyltransferase enzyme variant | Slow acetylator,SNOMEDCT ID:425079005,,,,,,,,,, +BMGC_DS09816,BMG_DS037499,Poor metabolizer due to cytochrome p450 CYP2C19 variant,UMLS ID:C1827468,Poor metabolizer due to cytochrome p450 CYP2C19 variant (disorder) | Poor metabolizer due to cytochrome p450 CYP2C19 variant | Poor metabolizer due to CYP2C19,SNOMEDCT ID:424500005,,,,,,,,,, +BMGC_DS09817,BMG_DS037525,Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant,UMLS ID:C1827786,Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant (disorder) | Ultrarapid metabolizer due to cytochrome p450 CYP2D6 variant | Ultrarapid metabolizer due to CYP2D6,SNOMEDCT ID:422681000,,,,,,,,,, +BMGC_DS09818,BMG_DS037547,,UMLS ID:C1828066,,,,,Prepapillary vascular loops,MONDO:0009907,,,,,,OMIM ID:264060 +BMGC_DS09819,BMG_DS037558,"Macular dystrophy, concentric annular",UMLS ID:C1828210,,,,,,,,MeSH ID:C537833,,,, +BMGC_DS09820,BMG_DS037573,Poor metabolizer due to cytochrome p450 CYP2D6 variant,UMLS ID:C1828413,Poor metabolizer due to cytochrome p450 CYP2D6 variant (disorder) | Poor metabolizer due to cytochrome p450 CYP2D6 variant | Poor metabolizer due to CYP2D6,SNOMEDCT ID:423629005,,,,,,,,,, +BMGC_DS09821,BMG_DS037582,Carnitine palmitoyl transferase 1A deficiency,UMLS ID:C1829703,,,,,carnitine palmitoyl transferase 1A deficiency,MONDO:0009705,,MeSH ID:C535588,,,,OMIM ID:255120 +BMGC_DS09822,BMG_DS037584,,UMLS ID:C1832099,,,,,Wilms tumor 5,MONDO:0011112,,,,,,OMIM ID:601583 +BMGC_DS09823,BMG_DS037587,"HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",UMLS ID:C1832162,,,,,congenital hypotrichosis with juvenile macular dystrophy,MONDO:0011107,,,congenital hypotrichosis with juvenile macular dystrophy,DOID:0110711,,OMIM ID:601553 | OMIM ID:114021 +BMGC_DS09824,BMG_DS037588,"Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism",UMLS ID:C1832167,,,,,facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,MONDO:0011106,,MeSH ID:C563293,,,,OMIM ID:601552 +BMGC_DS09825,BMG_DS037589,DOYNE HONEYCOMB RETINAL DYSTROPHY,UMLS ID:C1832174,,,,,Doyne honeycomb retinal dystrophy,MONDO:0007471,,,,,,OMIM ID:126600 | OMIM ID:601548 +BMGC_DS09826,BMG_DS037590,"Cataract, Congenital, Cerulean Type, 2",UMLS ID:C1832175,,,,,cataract 3 multiple types,MONDO:0011104,,MeSH ID:C563294,,,,OMIM ID:601547 +BMGC_DS09827,BMG_DS037591,"Deafness, Autosomal Dominant 12",UMLS ID:C1832187,,,,,autosomal dominant nonsyndromic hearing loss 12,MONDO:0011102,,MeSH ID:C563295,,,,OMIM ID:601543 +BMGC_DS09828,BMG_DS037592,Peroxisome biogenesis disorders,UMLS ID:C1832200,,,,,peroxisome biogenesis disorder,MONDO:0019234,,MeSH ID:C536664,,,, +BMGC_DS09829,BMG_DS037594,Athabaskan brainstem dysgenesis,UMLS ID:C1832215,,,,,human HOXA1 syndromes,MONDO:0011099,,MeSH ID:C535397,,,,OMIM ID:601536 +BMGC_DS09830,BMG_DS037595,Bosley-Salih-Alorainy Syndrome,UMLS ID:C1832216,,,,,Bosley-Salih-Alorainy syndrome,MONDO:0019075,,MeSH ID:C535397,,,, +BMGC_DS09831,BMG_DS037596,Rieger syndrome 2,UMLS ID:C1832229,,,,,Axenfeld-Rieger syndrome type 2,MONDO:0011097,,MeSH ID:C535680,,,,OMIM ID:601499 +BMGC_DS09832,BMG_DS037600,"Agammaglobulinemia, non-Bruton type",UMLS ID:C1832241,,,,,autosomal agammaglobulinemia,MONDO:0011096,,MeSH ID:C538056,,,, +BMGC_DS09833,BMG_DS037601,"Cardiomyopathy, Dilated, 1D",UMLS ID:C1832243,,,,,dilated cardiomyopathy 1D,MONDO:0011095,,MeSH ID:C563306,,,,OMIM ID:601494 +BMGC_DS09834,BMG_DS037602,"Cardiomyopathy, Dilated, 1C",UMLS ID:C1832244,,,,,dilated cardiomyopathy 1C,MONDO:0011094,,MeSH ID:C563307,,,,OMIM ID:601493 +BMGC_DS09835,BMG_DS037603,Ribbing disease,UMLS ID:C1832273,,,,,ribbing disease,MONDO:0011092,,MeSH ID:C537613,,,,OMIM ID:601477 +BMGC_DS09836,BMG_DS037604,"Charcot-Marie-Tooth disease, Type 2D",UMLS ID:C1832274,,,,,Charcot-Marie-Tooth disease type 2D,MONDO:0011091,,MeSH ID:C537993,,,,OMIM ID:601472 +BMGC_DS09837,BMG_DS037605,"FACIAL PARESIS, HEREDITARY CONGENITAL, 1",UMLS ID:C1832284,,,,,"facial paresis, hereditary congenital, 1",MONDO:0024466,,,,,,OMIM ID:601471 +BMGC_DS09838,BMG_DS037607,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",UMLS ID:C1832322,,,,,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",MONDO:0011086,,MeSH ID:C563311,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive",DOID:0090013,,OMIM ID:601457 +BMGC_DS09839,BMG_DS037608,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D",UMLS ID:C1832334,,,,,Charcot-Marie-Tooth disease type 4D,MONDO:0011085,,,,,,OMIM ID:601455 | OMIM ID:605262 +BMGC_DS09840,BMG_DS037612,"Deafness, Progressive, With Stapes Fixation",UMLS ID:C1832354,,,,,progressive deafness with stapes fixation,MONDO:0011080,,MeSH ID:C563316,,,,OMIM ID:601449 +BMGC_DS09841,BMG_DS037613,Rhizomelic dysplasia Patterson Lowry type,UMLS ID:C1832359,Rhizomelic dysplasia of Patterson Lowry type (disorder) | Rhizomelic dysplasia of Patterson Lowry type | Rhizomelic dysplasia Patterson Lowry type,SNOMEDCT ID:715505002,,,"rhizomelic dysplasia, Patterson-Lowry type",MONDO:0011079,,MeSH ID:C537609,,,,OMIM ID:601438 +BMGC_DS09842,BMG_DS037614,Jung Wolff Back Stahl syndrome,UMLS ID:C1832362,,,,,"anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis",MONDO:0011078,,MeSH ID:C537694,,,,OMIM ID:601427 +BMGC_DS09843,BMG_DS037616,"MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",UMLS ID:C1832370,,,,,myofibrillar myopathy 1,MONDO:0011076,,,,,,OMIM ID:601419 | OMIM ID:601419 | OMIM ID:615325 +BMGC_DS09844,BMG_DS037617,Retinitis Pigmentosa 18,UMLS ID:C1832378,,,,,retinitis pigmentosa 18,MONDO:0011075,,MeSH ID:C563320,retinitis pigmentosa 18,DOID:0110356,,OMIM ID:601414 +BMGC_DS09845,BMG_DS037618,"Deafness, Autosomal Dominant 7",UMLS ID:C1832379,,,,,autosomal dominant nonsyndromic hearing loss 7,MONDO:0011074,,MeSH ID:C563321,,,,OMIM ID:601412 +BMGC_DS09846,BMG_DS037619,"Diabetes Mellitus, Transient Neonatal, 1",UMLS ID:C1832386,,,,,"diabetes mellitus, transient neonatal, 1",MONDO:0011073,,MeSH ID:C563322,,,,OMIM ID:601410 +BMGC_DS09847,BMG_DS037621,"Platelet Disorder, Familial, with Associated Myeloid Malignancy",UMLS ID:C1832388,,,,,hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | hereditary thrombocytopenia and hematologic cancer predisposition syndrome,MONDO:0100083;MONDO:0011071,,MeSH ID:C563324,,,,OMIM ID:601399 +BMGC_DS09848,BMG_DS037622,Van Maldergem Wetzburger Verloes syndrome,UMLS ID:C1832390,,,,,van Maldergem syndrome,MONDO:0017813,,MeSH ID:C536530,Van Maldergem syndrome,DOID:0060238,, +BMGC_DS09849,BMG_DS037623,Cervical ribs sprengel anomaly anal atresia urethral obstruction,UMLS ID:C1832391,,,,,"cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction",MONDO:0011069,,MeSH ID:C538072,,,,OMIM ID:601389 +BMGC_DS09850,BMG_DS037624,"DIABETES MELLITUS, INSULIN-DEPENDENT, 12",UMLS ID:C1832392,,,,,type 1 diabetes mellitus 12,MONDO:0011068,,,,,,OMIM ID:601388 +BMGC_DS09851,BMG_DS037625,"Deafness, Autosomal Recessive 12",UMLS ID:C1832394,,,,,autosomal recessive nonsyndromic hearing loss 12,MONDO:0011067,,MeSH ID:C563327,,,,OMIM ID:601386 +BMGC_DS09852,BMG_DS037626,"Charcot-Marie-Tooth disease, Type 4B1",UMLS ID:C1832399,,,,,Charcot-Marie-Tooth disease type 4B1,MONDO:0011066,,MeSH ID:C535420,Charcot-Marie-Tooth disease type 4B1,DOID:0110191,,OMIM ID:601382 +BMGC_DS09853,BMG_DS037627,Hunter-McAlpine craniosynostosis syndrome,UMLS ID:C1832408,,,,,Hunter-McAlpine craniosynostosis,MONDO:0011065,,MeSH ID:C536072,,,,OMIM ID:601379 +BMGC_DS09854,BMG_DS037628,Crisponi syndrome,UMLS ID:C1832409,Cold-induced sweating syndrome (disorder) | Cold-induced sweating syndrome | Ciliary neurotrophic factor receptor-related disorder | Sohar-Crisponi syndrome | Crisponi syndrome (disorder) | Crisponi syndrome,SNOMEDCT ID:702363009 | SNOMEDCT ID:725097006,,,cold-induced sweating syndrome,MONDO:0015526,,MeSH ID:C536214,cold-induced sweating syndrome,DOID:0060294,, +BMGC_DS09855,BMG_DS037631,Aprosencephaly and Cerebellar Dysgenesis,UMLS ID:C1832412,,,,,aprosencephaly cerebellar dysgenesis,MONDO:0011062,,MeSH ID:C563331,,,,OMIM ID:601374 +BMGC_DS09856,BMG_DS037633,,UMLS ID:C1832423,,,,,early-onset non-syndromic cataract,MONDO:0011060,,,,,,OMIM ID:601371 +BMGC_DS09857,BMG_DS037634,Genoa syndrome,UMLS ID:C1832424,Holoprosencephaly craniosynostosis syndrome (disorder) | Holoprosencephaly craniosynostosis syndrome | Camero Lituania Cohen syndrome | Genoa syndrome,SNOMEDCT ID:715434005,,,holoprosencephaly-craniosynostosis syndrome,MONDO:0011059,,MeSH ID:C537684,,,,OMIM ID:601370 +BMGC_DS09858,BMG_DS037635,"Deafness, Autosomal Dominant 9",UMLS ID:C1832425,,,,,autosomal dominant nonsyndromic hearing loss 9,MONDO:0011058,,MeSH ID:C563335,,,,OMIM ID:601369 +BMGC_DS09859,BMG_DS037636,,UMLS ID:C1832426,,,,,Wilms tumor 4,MONDO:0011056,,,,,,OMIM ID:601363 +BMGC_DS09860,BMG_DS037637,Digeorge Syndrome-Velocardiofacial Syndrome Complex 2,UMLS ID:C1832431,,,,,distal monosomy 10p,MONDO:0011055,,MeSH ID:C563337,,,,OMIM ID:601362 +BMGC_DS09861,BMG_DS037638,"Amelia, Autosomal Recessive",UMLS ID:C1832432,,,,,autosomal recessive amelia,MONDO:0011054,,MeSH ID:C563338,,,,OMIM ID:601360 +BMGC_DS09862,BMG_DS037640,Yim Ebbin syndrome,UMLS ID:C1832434,,,,,amelia cleft lip palate hydrocephalus iris coloboma,MONDO:0011052,,MeSH ID:C536713,,,,OMIM ID:601357 +BMGC_DS09863,BMG_DS037641,Short limb dwarfism Al Gazali type,UMLS ID:C1832435,,,,,"lethal short-limb skeletal dysplasia, Al Gazali type",MONDO:0011051,,MeSH ID:C537598,,,,OMIM ID:601356 +BMGC_DS09864,BMG_DS037642,"Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs",UMLS ID:C1832436,,,,,microcephaly-cardiac defect-lung malsegmentation syndrome,MONDO:0011050,,MeSH ID:C563341,,,,OMIM ID:601355 +BMGC_DS09865,BMG_DS037643,"Mental Retardation, Microcephaly, Epilepsy, And Coarse Face",UMLS ID:C1832437,,,,,epilepsy-microcephaly-skeletal dysplasia syndrome,MONDO:0011048,,MeSH ID:C563342,,,,OMIM ID:601352 +BMGC_DS09866,BMG_DS037646,"MICROPHTHALMIA, SYNDROMIC 8",UMLS ID:C1832440,,,,,MMEP syndrome,MONDO:0011045,,,syndromic microphthalmia 8,DOID:0111803,,OMIM ID:601349 +BMGC_DS09867,BMG_DS037649,Martinez-Frias Syndrome,UMLS ID:C1832443,,,,,Martinez-Frias syndrome,MONDO:0011042,,MeSH ID:C563346,,,,OMIM ID:601346 +BMGC_DS09868,BMG_DS037650,"Ectodermal Dysplasia with Natal Teeth, Turnpenny Type",UMLS ID:C1832444,,,,,"ectodermal dysplasia with natal teeth, Turnpenny type",MONDO:0011041,,MeSH ID:C563347,,,,OMIM ID:601345 +BMGC_DS09869,BMG_DS037651,"Spinal Dysplasia, Anhalt Type",UMLS ID:C1832464,,,,,"spinal dysplasia, Anhalt type",MONDO:0011040,,MeSH ID:C563348,,,,OMIM ID:601344 +BMGC_DS09870,BMG_DS037652,"Atrophia Maculosa Varioliformis Cutis, Familial",UMLS ID:C1832465,,,,,"atrophia maculosa varioliformis cutis, familial",MONDO:0011039,,MeSH ID:C563349,,,,OMIM ID:601341 +BMGC_DS09871,BMG_DS037653,CAPOS syndrome,UMLS ID:C1832466,,,,,cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,MONDO:0011038,,MeSH ID:C535351,,,,OMIM ID:601338 +BMGC_DS09872,BMG_DS037655,Porencephaly cerebellar hypoplasia malformations,UMLS ID:C1832472,,,,,porencephaly-cerebellar hypoplasia-internal malformations syndrome,MONDO:0011036,,MeSH ID:C536336,,,,OMIM ID:601322 +BMGC_DS09873,BMG_DS037656,Odontomicronychial dysplasia,UMLS ID:C1832473,,,,,odontomicronychial dysplasia,MONDO:0011034,,MeSH ID:C537741,,,,OMIM ID:601319 +BMGC_DS09874,BMG_DS037658,"Deafness, Autosomal Dominant 11",UMLS ID:C1832475,,,,,autosomal dominant nonsyndromic hearing loss 11,MONDO:0011032,,MeSH ID:C563353,,,,OMIM ID:601317 +BMGC_DS09875,BMG_DS037659,"Deafness, Autosomal Dominant 10",UMLS ID:C1832476,,,,,autosomal dominant nonsyndromic hearing loss 10,MONDO:0011031,,MeSH ID:C563354,,,,OMIM ID:601316 +BMGC_DS09876,BMG_DS037662,Limb-girdle muscular dystrophy type 2F,UMLS ID:C1832525,,,,,autosomal recessive limb-girdle muscular dystrophy type 2F,MONDO:0011028,,MeSH ID:C535896,,,,OMIM ID:601287 +BMGC_DS09877,BMG_DS037664,"Diabetes Mellitus, Noninsulin-Dependent, 1",UMLS ID:C1832544,,,,,"diabetes mellitus, noninsulin-dependent, 1",MONDO:0011027,,MeSH ID:C563359,,,,OMIM ID:601283 +BMGC_DS09878,BMG_DS037665,,UMLS ID:C1832550,,,,,autosomal recessive congenital ichthyosis 4A,MONDO:0011026,,,,,,OMIM ID:601277 +BMGC_DS09879,BMG_DS037666,Rippling Muscle Disease 2,UMLS ID:C1832560,,,,,rippling muscle disease 2,MONDO:0019947,,MeSH ID:C535686,rippling muscle disease 1,DOID:0070308,,OMIM ID:606072 +BMGC_DS09880,BMG_DS037667,"CEREBELLAR ATAXIA, CAYMAN TYPE",UMLS ID:C1832585,,,,,Cayman type cerebellar ataxia,MONDO:0011025,,,,,,OMIM ID:601238 +BMGC_DS09881,BMG_DS037668,"DERMATITIS HERPETIFORMIS, FAMILIAL",UMLS ID:C1832586,,,,,"dermatitis herpetiformis, familial",MONDO:0011024,,,,,,OMIM ID:601230 +BMGC_DS09882,BMG_DS037669,"POLYPOSIS SYNDROME, HEREDITARY MIXED, 1",UMLS ID:C1832587,,,,,"polyposis syndrome, hereditary mixed, 1",MONDO:0042486,,,hereditary mixed polyposis syndrome 1,DOID:0111685,,OMIM ID:601228 +BMGC_DS09883,BMG_DS037670,Chromosome 11p11.2 Deletion Syndrome,UMLS ID:C1832588,,,,,Potocki-Shaffer syndrome,MONDO:0011022,,MeSH ID:C538356,Potocki-Shaffer syndrome,DOID:0111687,,OMIM ID:601224 +BMGC_DS09884,BMG_DS037671,"Neuronal Intestinal Dysplasia, Type B",UMLS ID:C1832589,,,,,"neuronal intestinal dysplasia, type B",MONDO:0011021,,MeSH ID:C537394,,,,OMIM ID:601223 +BMGC_DS09885,BMG_DS037675,Verloes Bourguignon syndrome,UMLS ID:C1832594,Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) | Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome | Platyspondyly amelogenesis imperfecta | Verloes Bourguignon syndrome | Brachyolmia and amelogenesis imperfecta syndrome,SNOMEDCT ID:716195006,,,brachyolmia-amelogenesis imperfecta syndrome,MONDO:0011018,,MeSH ID:C536538,,,,OMIM ID:601216 +BMGC_DS09886,BMG_DS037676,Naxos disease,UMLS ID:C1832600,Naxos disease | Keratoderma with woolly hair type I | Keratoderma with wooly hair type I | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) | Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome | Palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy,SNOMEDCT ID:715535009,,,Naxos disease,MONDO:0011017,,MeSH ID:C538346,Naxos disease,DOID:0080551,,OMIM ID:601214 +BMGC_DS09887,BMG_DS037678,Anterior polar cataract 2,UMLS ID:C1832609,,,,,cataract 24,MONDO:0011015,,MeSH ID:C537774,,,,OMIM ID:601202 +BMGC_DS09888,BMG_DS037680,"Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",UMLS ID:C1832612,,,,,,,,MeSH ID:C563374,,,, +BMGC_DS09889,BMG_DS037681,"HYPERPARATHYROIDISM, NEONATAL SEVERE",UMLS ID:C1832615,,,,,neonatal severe primary hyperparathyroidism,MONDO:0009397,,,,,,OMIM ID:601199 | OMIM ID:239200 +BMGC_DS09890,BMG_DS037682,Hypoparathyroidism familial isolated,UMLS ID:C1832648,,,,,familial hypoparathyroidism,MONDO:0016390,,MeSH ID:C537156,,,, +BMGC_DS09891,BMG_DS037683,Anophthalmia with pulmonary hypoplasia,UMLS ID:C1832661,,,,,Matthew-Wood syndrome,MONDO:0011010,,MeSH ID:C537768,syndromic microphthalmia 9,DOID:0111807,,OMIM ID:601186 +BMGC_DS09892,BMG_DS037684,,UMLS ID:C1832662,,,,,"myocardial infarction, susceptibility to",MONDO:0012039,,,,,,OMIM ID:608446 +BMGC_DS09893,BMG_DS037686,"Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull",UMLS ID:C1832668,,,,,diaphragmatic defect-limb deficiency-skull defect syndrome,MONDO:0011007,,MeSH ID:C563380,,,,OMIM ID:601163 +BMGC_DS09894,BMG_DS037687,"Spastic paraplegia 9, autosomal dominant",UMLS ID:C1832669,,,,,autosomal dominant spastic paraplegia type 9,MONDO:0015091,,MeSH ID:C536868,,,, +BMGC_DS09895,BMG_DS037690,"CARDIOMYOPATHY, DILATED, 1E",UMLS ID:C1832680,,,,,dilated cardiomyopathy 1E,MONDO:0011003,,,,,,OMIM ID:601154 | OMIM ID:600163 +BMGC_DS09896,BMG_DS037691,,UMLS ID:C1832702,,,,,brachydactyly type A2,MONDO:0007216,,,brachydactyly type A2,DOID:0110965,,OMIM ID:112600 +BMGC_DS09897,BMG_DS037692,MULTIPLE SYNOSTOSES SYNDROME 2,UMLS ID:C1832708,,,,,multiple synostoses syndrome 2,MONDO:0012394,,,multiple synostoses syndrome 2,DOID:0081318,,OMIM ID:601146 | OMIM ID:610017 +BMGC_DS09898,BMG_DS037693,Fallot complex with severe mental and growth retardation,UMLS ID:C1832735,,,,,fallot complex-intellectual disability-growth delay syndrome,MONDO:0010999,,MeSH ID:C536608,,,,OMIM ID:601127 +BMGC_DS09899,BMG_DS037694,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",UMLS ID:C1832736,,,,,ALG3-congenital disorder of glycosylation,MONDO:0010998,,,congenital disorder of glycosylation Id,DOID:0080556,,OMIM ID:601110 | OMIM ID:608750 +BMGC_DS09900,BMG_DS037697,"Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",UMLS ID:C1832812,,,,,Ayme-Gripp syndrome,MONDO:0010992,,MeSH ID:C563390,Ayme-Gripp syndrome,DOID:0111688,,OMIM ID:601088 +BMGC_DS09901,BMG_DS037698,"Laterality Defects, Autosomal Dominant",UMLS ID:C1832813,,,,,"laterality defects, autosomal dominant",MONDO:0010991,,MeSH ID:C563391,,,,OMIM ID:601086 +BMGC_DS09902,BMG_DS037699,"Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction",UMLS ID:C1832826,,,,,aplasia cutis-myopia syndrome,MONDO:0010988,,MeSH ID:C563394,,,,OMIM ID:601075 +BMGC_DS09903,BMG_DS037700,"DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",UMLS ID:C1832827,,,,,autosomal recessive nonsyndromic hearing loss 8,MONDO:0010987,,,,,,OMIM ID:601072 +BMGC_DS09904,BMG_DS037701,"Deafness, Autosomal Recessive 9",UMLS ID:C1832828,,,,,autosomal recessive nonsyndromic hearing loss 9,MONDO:0010986,,MeSH ID:C563396,,,,OMIM ID:601071 +BMGC_DS09905,BMG_DS037703,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",UMLS ID:C1832841,,,,,"epilepsy, familial adult myoclonic, 1",MONDO:0010985,,,familial adult myoclonic epilepsy 1,DOID:0111690,,OMIM ID:601068 | OMIM ID:618073 +BMGC_DS09906,BMG_DS037704,"USHER SYNDROME, TYPE ID",UMLS ID:C1832845,,,,,Usher syndrome type 1D,MONDO:0010984,,,,,,OMIM ID:601067 | OMIM ID:605516 +BMGC_DS09907,BMG_DS037705,"CHOREOATHETOSIS/SPASTICITY, EPISODIC",UMLS ID:C1832855,,,,,dystonia 9,MONDO:0010983,,,dystonia 9,DOID:0090044,,OMIM ID:601042 +BMGC_DS09908,BMG_DS037706,Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin,UMLS ID:C1832858,,,,,ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin,MONDO:0010982,,MeSH ID:C563402,,,,OMIM ID:601039 +BMGC_DS09909,BMG_DS037709,"Hemiplegic migraine, familial type 1",UMLS ID:C1832884,,,,,"migraine, familial hemiplegic, 1",MONDO:0020756,,MeSH ID:C536890,,,,OMIM ID:141500 +BMGC_DS09910,BMG_DS037710,"MIGRAINE, SPORADIC HEMIPLEGIC",UMLS ID:C1832903,,,,,sporadic hemiplegic migraine,MONDO:0020757,,,familial hemiplegic migraine 1,DOID:0111181,,OMIM ID:601011 | OMIM ID:141500 +BMGC_DS09911,BMG_DS037711,Timothy syndrome,UMLS ID:C1832916,Timothy syndrome (disorder) | Timothy syndrome | Long QT syndrome type 8,SNOMEDCT ID:1230096008,,,Timothy syndrome,MONDO:0010979,,MeSH ID:C536962,Timothy syndrome,DOID:0060173,,OMIM ID:601005 +BMGC_DS09912,BMG_DS037712,"Portal Vein, Cavernous Transformation Of",UMLS ID:C1832917,,,,,"portal vein, cavernous transformation of",MONDO:0010978,,MeSH ID:C563407,,,,OMIM ID:601004 +BMGC_DS09913,BMG_DS037713,Brody myopathy,UMLS ID:C1832918,Brody myopathy | Brody disease | Brody myopathy (disorder),SNOMEDCT ID:703530005,,,Brody myopathy,MONDO:0010977,,MeSH ID:C536607,Brody myopathy,DOID:0050692,,OMIM ID:601003 +BMGC_DS09914,BMG_DS037714,"Epidermolysis Bullosa Simplex, Autosomal Recessive",UMLS ID:C1832926,,,,,,,,MeSH ID:C563408,,,, +BMGC_DS09915,BMG_DS037715,"Deafness, Autosomal Dominant 5",UMLS ID:C1832932,,,,,autosomal dominant nonsyndromic hearing loss 5,MONDO:0010973,,MeSH ID:C563410,,,,OMIM ID:600994 +BMGC_DS09916,BMG_DS037716,JUVENILE POLYPOSIS OF STOMACH,UMLS ID:C1832940,,,,,,,,,,,,OMIM ID:174900 | OMIM ID:600993 +BMGC_DS09917,BMG_DS037717,Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia,UMLS ID:C1832942,,,,,juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,MONDO:0008278,,MeSH ID:C563412,,,,OMIM ID:175050 +BMGC_DS09918,BMG_DS037719,Infundibulopelvic dysgenesis,UMLS ID:C1832949,Infundibulopelvic stenosis multicystic kidney syndrome (disorder) | Infundibulopelvic stenosis multicystic kidney syndrome | Infundibulopelvic dysgenesis,SNOMEDCT ID:725905005,,,infundibulopelvic stenosis-multicystic kidney syndrome,MONDO:0010971,,MeSH ID:C535528,,,,OMIM ID:MTHU054184 | OMIM ID:600989 +BMGC_DS09919,BMG_DS037720,"Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",UMLS ID:C1832950,,,,,"cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",MONDO:0010970,,MeSH ID:C563414,"cleft palate, cardiac defects, and intellectual disabillity",DOID:0111697,,OMIM ID:600987 +BMGC_DS09920,BMG_DS037721,Cone-Rod Dystrophy 5,UMLS ID:C1832976,,,,,cone-rod dystrophy 5,MONDO:0010969,,MeSH ID:C563415,cone-rod dystrophy 5,DOID:0111010,,OMIM ID:600977 +BMGC_DS09921,BMG_DS037722,"GLAUCOMA 3, PRIMARY INFANTILE, B",UMLS ID:C1832977,,,,,"glaucoma 3, primary infantile, B",MONDO:0010968,,,,,,OMIM ID:600975 +BMGC_DS09922,BMG_DS037723,"Deafness, Autosomal Recessive 7",UMLS ID:C1832978,,,,,autosomal recessive nonsyndromic hearing loss 7,MONDO:0010967,,MeSH ID:C563417,,,,OMIM ID:600974 +BMGC_DS09923,BMG_DS037724,"DEAFNESS, AUTOSOMAL RECESSIVE 6",UMLS ID:C1832992,,,,,autosomal recessive nonsyndromic hearing loss 6,MONDO:0010965,,,,,,OMIM ID:607237 | OMIM ID:600971 +BMGC_DS09924,BMG_DS037725,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",UMLS ID:C1832998,,,,,"epiphyseal dysplasia, multiple, 3",MONDO:0010964,,,multiple epiphyseal dysplasia 3,DOID:0070304,,OMIM ID:120270 | OMIM ID:600969 +BMGC_DS09925,BMG_DS037726,"DEAFNESS, AUTOSOMAL DOMINANT 6",UMLS ID:C1833021,,,,,autosomal dominant nonsyndromic hearing loss 6,MONDO:0010963,,,,,,OMIM ID:606201 | OMIM ID:600965 +BMGC_DS09926,BMG_DS037728,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",UMLS ID:C1833030,,,,,diffuse nonepidermolytic palmoplantar keratoderma,MONDO:0010962,,,nonepidermolytic palmoplantar keratoderma,DOID:0050428,,OMIM ID:139350 | OMIM ID:600962 +BMGC_DS09927,BMG_DS037729,Proprotein Convertase 1 3 Deficiency,UMLS ID:C1833053,,,,,obesity due to prohormone convertase I deficiency,MONDO:0010961,,MeSH ID:C563423,proprotein convertase 1/3 deficiency,DOID:0111698,,OMIM ID:600955 +BMGC_DS09928,BMG_DS037730,,UMLS ID:C1833104,,,,,permanent neonatal diabetes mellitus,MONDO:0100164,,,,,, +BMGC_DS09929,BMG_DS037732,,UMLS ID:C1833118,,,,,pulverulent cataract,MONDO:0011430,,,,,, +BMGC_DS09930,BMG_DS037733,Marden Walker like syndrome,UMLS ID:C1833136,Van den Ende-Gupta syndrome (disorder) | Van den Ende-Gupta syndrome | Marden Walker like syndrome,SNOMEDCT ID:719845008,,,van den Ende-Gupta syndrome,MONDO:0010959,,MeSH ID:C535909,Van den Ende-Gupta syndrome,DOID:0111699,,OMIM ID:600920 +BMGC_DS09931,BMG_DS037734,Long Qt Syndrome 4,UMLS ID:C1833154,,,,,long QT syndrome 4,MONDO:0800323,,MeSH ID:C563428,long QT syndrome 4,DOID:0111701,, +BMGC_DS09932,BMG_DS037738,"Hyperferritinemia, hereditary, with congenital cataracts",UMLS ID:C1833213,,,,,hereditary hyperferritinemia with congenital cataracts,MONDO:0010952,,MeSH ID:C538137,hyperferritinemia-cataract syndrome,DOID:0111256,,OMIM ID:600886 +BMGC_DS09933,BMG_DS037740,"Charcot-Marie-Tooth disease, Type 2B",UMLS ID:C1833219,,,,,Charcot-Marie-Tooth disease type 2B,MONDO:0010949,,MeSH ID:C537989,Charcot-Marie-Tooth disease type 2B,DOID:0110159,,OMIM ID:600882 +BMGC_DS09934,BMG_DS037741,"Cataract, Congenital Zonular, with Sutural Opacities",UMLS ID:C1833229,,,,,cataract 10 multiple types,MONDO:0010948,,MeSH ID:C563435,,,,OMIM ID:600881 +BMGC_DS09935,BMG_DS037742,"Cardiomyopathy, Familial Hypertrophic, 6",UMLS ID:C1833236,,,,,hypertrophic cardiomyopathy 6,MONDO:0010946,,MeSH ID:C563436,,,,OMIM ID:600858 +BMGC_DS09936,BMG_DS037743,Retinitis Pigmentosa 17,UMLS ID:C1833245,,,,,retinitis pigmentosa 17,MONDO:0010945,,MeSH ID:C563437,retinitis pigmentosa 17,DOID:0110404,,OMIM ID:600852 +BMGC_DS09937,BMG_DS037745,SCHIZOPHRENIA 4,UMLS ID:C1833247,,,,,schizophrenia 4,MONDO:0010943,,,schizophrenia 4,DOID:0070080,,OMIM ID:600850 +BMGC_DS09938,BMG_DS037746,"Enuresis, Nocturnal, 2",UMLS ID:C1833268,,,,,"nocturnal enuresis, 2",MONDO:0010941,,MeSH ID:C563439,,,,OMIM ID:600808 +BMGC_DS09939,BMG_DS037747,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",UMLS ID:C1833275,,,,,T-B+ severe combined immunodeficiency due to JAK3 deficiency,MONDO:0010938,,MeSH ID:C563440,,,,OMIM ID:600802 +BMGC_DS09940,BMG_DS037749,"FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",UMLS ID:C1833296,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 7,MONDO:0010936,,,,,,OMIM ID:600795 | OMIM ID:600795 | OMIM ID:614696 +BMGC_DS09941,BMG_DS037750,,UMLS ID:C1833308,,,,,"neuronopathy, distal hereditary motor, type 5",MONDO:0100350,,,autosomal dominant distal hereditary motor neuronopathy 5,DOID:0111203,, +BMGC_DS09942,BMG_DS037751,"Deafness, Autosomal Recessive 5",UMLS ID:C1833319,,,,,autosomal recessive nonsyndromic hearing loss 5,MONDO:0000912,,MeSH ID:C563444,,,,OMIM ID:600792 +BMGC_DS09943,BMG_DS037752,"CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL",UMLS ID:C1833321,,,,,progressive bifocal chorioretinal atrophy,MONDO:0010932,,,,,,OMIM ID:600790 | OMIM ID:616842 +BMGC_DS09944,BMG_DS037753,Anophthalmia plus syndrome,UMLS ID:C1833339,Anophthalmia plus syndrome (disorder) | Anophthalmia plus syndrome | Fryns microphthalmia syndrome,SNOMEDCT ID:720496006,,,anophthalmia plus syndrome,MONDO:0010930,,MeSH ID:C537767,,,,OMIM ID:600776 +BMGC_DS09945,BMG_DS037754,Synostotic Posterior Plagiocephaly,UMLS ID:C1833340,,,,,craniosynostosis 4,MONDO:0010929,Craniosynostoses,MeSH ID:D003398,,,,OMIM ID:600775 +BMGC_DS09946,BMG_DS037756,OROFACIAL CLEFT 3,UMLS ID:C1833369,,,,,orofacial cleft 3,MONDO:0010927,,,,,,OMIM ID:600757 +BMGC_DS09947,BMG_DS037757,"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III",UMLS ID:C1833372,,,,,familial hypocalciuric hypercalcemia 3,MONDO:0010926,,,,,,OMIM ID:602242 | OMIM ID:600740 +BMGC_DS09948,BMG_DS037758,"Inclusion Body Myopathy, Autosomal Recessive",UMLS ID:C1833373,,,,,,,,MeSH ID:C538329,GNE myopathy,DOID:0080718,, +BMGC_DS09949,BMG_DS037760,"Maturity-Onset Diabetes of the Young, Type 4",UMLS ID:C1833382,,,,,maturity-onset diabetes of the young type 4,MONDO:0011667,,MeSH ID:C563451,maturity-onset diabetes of the young type 4,DOID:0111103,,OMIM ID:606392 +BMGC_DS09950,BMG_DS037761,D-2-hydroxyglutaric aciduria,UMLS ID:C1833429,D-2(OH) glutaric aciduria | D-2-hydroxyglutaric aciduria (disorder) | D-2-hydroxyglutaric aciduria,SNOMEDCT ID:237960000,,,D-2-hydroxyglutaric aciduria,MONDO:0010924,,MeSH ID:C535306,2-hydroxyglutaric aciduria,DOID:0050573,,OMIM ID:MTHU006365 +BMGC_DS09951,BMG_DS037762,Proximal Myopathy with Focal Depletion of Mitochondria,UMLS ID:C1833453,,,,,proximal myopathy with focal depletion of mitochondria,MONDO:0010923,,MeSH ID:C563453,,,,OMIM ID:600706 +BMGC_DS09952,BMG_DS037763,Satoyoshi syndrome,UMLS ID:C1833454,Satoyoshi syndrome | Komuragaeri disease | Satoyoshi syndrome (disorder),SNOMEDCT ID:763630007,,,Satoyoshi syndrome,MONDO:0010922,,MeSH ID:C536616,,,,OMIM ID:600705 +BMGC_DS09953,BMG_DS037765,"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5",UMLS ID:C1833477,,,,,Lynch syndrome 5,MONDO:0013710,,,hereditary nonpolyposis colorectal cancer type 5,DOID:0070272,,OMIM ID:614350 +BMGC_DS09954,BMG_DS037766,Microtia-Anotia,UMLS ID:C1833486,,,,,microtia,MONDO:0010920,,MeSH ID:C563457,,,,OMIM ID:600674 +BMGC_DS09955,BMG_DS037767,"Varicella, Severe Recurrent",UMLS ID:C1833487,,,,,"varicella, severe recurrent",MONDO:0010919,,MeSH ID:C563458,,,,OMIM ID:600670 +BMGC_DS09956,BMG_DS037768,Chondrocalcinosis 1,UMLS ID:C1833499,,,,,chondrocalcinosis 1,MONDO:0010917,,MeSH ID:C535938,,,,OMIM ID:600668 +BMGC_DS09957,BMG_DS037769,"Deafness, Autosomal Dominant 4",UMLS ID:C1833503,,,,,autosomal dominant nonsyndromic hearing loss 4A,MONDO:0010915,,MeSH ID:C563460,,,,OMIM ID:600652 +BMGC_DS09958,BMG_DS037770,,UMLS ID:C1833508,,,,,"carnitine palmitoyl transferase II deficiency, myopathic form",MONDO:0009704,,,,,,OMIM ID:255110 +BMGC_DS09959,BMG_DS037771,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",UMLS ID:C1833511,,,,,"carnitine palmitoyl transferase II deficiency, severe infantile form",MONDO:0010914,,,,,,OMIM ID:600649 | OMIM ID:600650 +BMGC_DS09960,BMG_DS037772,"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",UMLS ID:C1833518,,,,,"carnitine palmitoyl transferase II deficiency, neonatal form",MONDO:0012136,,,,,,OMIM ID:600650 | OMIM ID:608836 +BMGC_DS09961,BMG_DS037773,OROFACIAL CLEFT 7,UMLS ID:C1833538,,,,,orofacial cleft 7,MONDO:0700251,,,cleft lip-palate-ectodermal dysplasia syndrome,DOID:0060773,,OMIM ID:225060 | OMIM ID:600644 +BMGC_DS09962,BMG_DS037775,UV-Sensitive Syndrome,UMLS ID:C1833561,,,,,UV-sensitive syndrome,MONDO:0015797,,MeSH ID:C563466,UV-sensitive syndrome,DOID:0060240,, +BMGC_DS09963,BMG_DS037777,Cone-Rod Dystrophy 1,UMLS ID:C1833564,,,,,cone-rod dystrophy 1,MONDO:0010905,,MeSH ID:C563469,cone-rod dystrophy 1,DOID:0111009,,OMIM ID:600624 +BMGC_DS09964,BMG_DS037779,"Craniosynostosis, Adelaide Type",UMLS ID:C1833578,,,,,"craniosynostosis, Adelaide type",MONDO:0010903,,MeSH ID:C563471,,,,OMIM ID:600593 +BMGC_DS09965,BMG_DS037780,Spondyloepiphyseal Dysplasia with Atlantoaxial Instability,UMLS ID:C1833603,,,,,"spondyloepiphyseal dysplasia, Reardon type",MONDO:0010902,,MeSH ID:C563472,,,,OMIM ID:600561 +BMGC_DS09966,BMG_DS037781,"Hydrocephalus, endocardial fibroelastosis, and cataracts",UMLS ID:C1833607,,,,,HEC syndrome,MONDO:0010901,,MeSH ID:C535855,,,,OMIM ID:600559 +BMGC_DS09967,BMG_DS037782,PAROXYSMAL EXTREME PAIN DISORDER,UMLS ID:C1833661,,,,,paroxysmal extreme pain disorder,MONDO:0008179,,,paroxysmal extreme pain disorder,DOID:0111537,,OMIM ID:603415 | OMIM ID:167400 +BMGC_DS09968,BMG_DS037783,,UMLS ID:C1833662,,,,,inclusion body myopathy with Paget disease of bone and frontotemporal dementia,MONDO:0000507,,,,,, +BMGC_DS09969,BMG_DS037784,Pacman dysplasia,UMLS ID:C1833676,Pacman dysplasia (disorder) | Pacman dysplasia | Epiphyseal stippling with osteoclastic hyperplasia syndrome,SNOMEDCT ID:722127006,,,pacman dysplasia,MONDO:0008175,,MeSH ID:C538095,,,,OMIM ID:167220 +BMGC_DS09970,BMG_DS037785,,UMLS ID:C1833683,,,,,"nephrolithiasis, calcium oxalate",MONDO:0957318,,,,,, +BMGC_DS09971,BMG_DS037786,"Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension",UMLS ID:C1833688,,,,,"osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension",MONDO:0008169,,MeSH ID:C563478,,,,OMIM ID:166990 +BMGC_DS09972,BMG_DS037787,"Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis",UMLS ID:C1833689,,,,,"ovalocytosis, hereditary hemolytic, with defective erythropoiesis",MONDO:0008166,,MeSH ID:C563479,,,,OMIM ID:166910 +BMGC_DS09973,BMG_DS037789,Otofaciocervical Syndrome,UMLS ID:C1833691,,,,,otofaciocervical syndrome,MONDO:0008163,,MeSH ID:C563481,,,, +BMGC_DS09974,BMG_DS037790,,UMLS ID:C1833692,,,,,"otitis media, susceptibility to",MONDO:0008162,,,,,,OMIM ID:166760 +BMGC_DS09975,BMG_DS037791,Otodental Dysplasia,UMLS ID:C1833693,,,,,otodental syndrome,MONDO:0008161,,MeSH ID:C563482,,,,OMIM ID:166750 +BMGC_DS09976,BMG_DS037792,Osteosclerosis with Ichthyosis and Fractures,UMLS ID:C1833697,,,,,osteosclerosis with ichthyosis and fractures,MONDO:0008160,,MeSH ID:C563483,,,,OMIM ID:166740 +BMGC_DS09977,BMG_DS037793,Osteopoikilosis and dacryocystitis,UMLS ID:C1833698,,,,,dacryocystitis-osteopoikilosis syndrome,MONDO:0008158,,MeSH ID:C536061,,,,OMIM ID:166705 +BMGC_DS09978,BMG_DS037794,"Osteopoikilosis, Isolated",UMLS ID:C1833699,,,,,isolated osteopoikilosis,MONDO:0015634,,MeSH ID:C563484,,,, +BMGC_DS09979,BMG_DS037797,Osteomas Of Mandible,UMLS ID:C1833733,,,,,osteomas of mandible,MONDO:0008154,,MeSH ID:C563485,,,,OMIM ID:166400 +BMGC_DS09980,BMG_DS037798,"Osteogenesis imperfecta, Levin type",UMLS ID:C1833736,,,,,gnathodiaphyseal dysplasia,MONDO:0008151,,MeSH ID:C536039,gnathodiaphyseal dysplasia,DOID:0111533,,OMIM ID:166260 +BMGC_DS09981,BMG_DS037800,"Ossicular Malformations, familial",UMLS ID:C1833790,,,,,"ossicular malformations, familial",MONDO:0008141,,MeSH ID:C537142,,,,OMIM ID:165680 +BMGC_DS09982,BMG_DS037801,Ossified Ear Cartilages,UMLS ID:C1833791,,,,,ossified ear cartilages,MONDO:0008140,,MeSH ID:C563488,,,,OMIM ID:165670 +BMGC_DS09983,BMG_DS037802,Oslam syndrome,UMLS ID:C1833792,,,,,OSLAM syndrome,MONDO:0008139,,MeSH ID:C537138,,,,OMIM ID:165660 +BMGC_DS09984,BMG_DS037803,"Orbital Margin, Hypoplasia of",UMLS ID:C1833795,,,,,syndromic orbital border hypoplasia,MONDO:0008138,,MeSH ID:C563490,,,,OMIM ID:165600 +BMGC_DS09985,BMG_DS037804,Orofaciodigital Syndrome X,UMLS ID:C1833796,,,,,orofaciodigital syndrome X,MONDO:0008137,,MeSH ID:C563491,orofaciodigital syndrome X,DOID:0060380,,OMIM ID:165590 +BMGC_DS09986,BMG_DS037805,"Optic Nerve Hypoplasia, Bilateral",UMLS ID:C1833797,,,,,isolated optic nerve hypoplasia,MONDO:0008136,,MeSH ID:C563492,,,,OMIM ID:165550 +BMGC_DS09987,BMG_DS037806,"Optic Nerve Aplasia, Bilateral",UMLS ID:C1833798,,,,,,,,MeSH ID:C563493,,,, +BMGC_DS09988,BMG_DS037808,"OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",UMLS ID:C1833809,,,,,optic atrophy 3,MONDO:0008133,,,optic atrophy 3,DOID:0111433,,OMIM ID:606580 | OMIM ID:165300 +BMGC_DS09989,BMG_DS037810,"Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant",UMLS ID:C1833831,,,,,"optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant",MONDO:0008131,,MeSH ID:C563497,,,,OMIM ID:165199 +BMGC_DS09990,BMG_DS037811,"Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency",UMLS ID:C1833835,,,,,ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,MONDO:0008130,,MeSH ID:C563498,,,,OMIM ID:165150 +BMGC_DS09991,BMG_DS037812,"Ophthalmoplegia, Familial Total, with Iris Transillumination",UMLS ID:C1833836,,,,,"ophthalmoplegia, familial total, with iris transillumination",MONDO:0008129,,MeSH ID:C563499,,,,OMIM ID:165098 +BMGC_DS09992,BMG_DS037813,"Ophthalmoplegia, Familial Static",UMLS ID:C1833839,,,,,"ophthalmoplegia, familial static",MONDO:0008128,,MeSH ID:C563500,,,,OMIM ID:165000 +BMGC_DS09993,BMG_DS037814,Ophthalmomandibulomelic Dysplasia,UMLS ID:C1833872,,,,,ophthalmomandibulomelic dysplasia,MONDO:0008127,,MeSH ID:C563501,,,,OMIM ID:164900 +BMGC_DS09994,BMG_DS037815,"Onycholysis, Partial, with Scleronychia",UMLS ID:C1833909,,,,,nonsyndromic congenital nail disorder 5,MONDO:0008125,,MeSH ID:C563503,,,,OMIM ID:164800 +BMGC_DS09995,BMG_DS037816,,UMLS ID:C1833921,,,,,familial medullary thyroid carcinoma,MONDO:0007958,,,,,,OMIM ID:155240 +BMGC_DS09996,BMG_DS037820,Oculopharyngodistal Myopathy,UMLS ID:C1834014,,,,,oculopharyngodistal myopathy,MONDO:0025193,,MeSH ID:C563508,,,, +BMGC_DS09997,BMG_DS037821,,UMLS ID:C1834038,,,,,Schilbach-Rott syndrome,MONDO:0008113,,,,,,OMIM ID:164220 +BMGC_DS09998,BMG_DS037823,Hereditary vertical nystagmus,UMLS ID:C1834078,,,,,"nystagmus, hereditary vertical",MONDO:0008107,,MeSH ID:C537857,,,,OMIM ID:164150 +BMGC_DS09999,BMG_DS037824,"Nystagmus 2, congenital, autosomal dominant",UMLS ID:C1834079,,,,,"nystagmus 2, congenital, autosomal dominant",MONDO:0008106,,MeSH ID:C537854,,,,OMIM ID:164100 +BMGC_DS10000,BMG_DS037826,Noonan like syndrome,UMLS ID:C1834120,,,,,,,,MeSH ID:C537846,,,, +BMGC_DS10001,BMG_DS037827,"Noduli Cutanei, Multiple, with Urinary Tract Abnormalities",UMLS ID:C1834143,,,,,"noduli Cutanei, multiple, with urinary tract abnormalities",MONDO:0008103,,MeSH ID:C563512,,,,OMIM ID:163850 +BMGC_DS10002,BMG_DS037828,"Sick Sinus Syndrome 2, Autosomal Dominant",UMLS ID:C1834144,,,,,"sick sinus syndrome 2, autosomal dominant",MONDO:0008102,,MeSH ID:C563513,,,,OMIM ID:163800 +BMGC_DS10003,BMG_DS037829,Hypertension Resistant to Conventional Therapy,UMLS ID:C1834155,,,,,,,,MeSH ID:C563514,,,, +BMGC_DS10004,BMG_DS037832,"Neuropathy, congenital, with arthrogryposis multiplex",UMLS ID:C1834206,,,,,"neuropathy, congenital, with arthrogryposis multiplex",MONDO:0008084,,MeSH ID:C535714,,,,OMIM ID:162370 +BMGC_DS10005,BMG_DS037833,"Ceroid Lipofuscinosis, Neuronal, Parry Type",UMLS ID:C1834207,,,,,"ceroid lipofuscinosis, neuronal, 4 (Kufs type)",MONDO:0008083,Neuronal Ceroid-Lipofuscinoses,MeSH ID:D009472,,,,OMIM ID:162350 +BMGC_DS10006,BMG_DS037837,"NEUROFIBROMATOSIS, FAMILIAL SPINAL",UMLS ID:C1834235,,,,,"neurofibromatosis, familial spinal",MONDO:0008078,,,spinal neurofibromatosis,DOID:0070482,,OMIM ID:162210 | OMIM ID:613113 +BMGC_DS10007,BMG_DS037838,"AMYOTROPHY, HEREDITARY NEURALGIC",UMLS ID:C1834304,,,,,amyotrophic neuralgia,MONDO:0008076,,,,,,OMIM ID:162100 | OMIM ID:604061 +BMGC_DS10008,BMG_DS037839,RETINITIS PIGMENTOSA 27,UMLS ID:C1834329,,,,,retinitis pigmentosa 27,MONDO:0013402,,,,,,OMIM ID:162080 | OMIM ID:613750 +BMGC_DS10009,BMG_DS037840,"Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type",UMLS ID:C1834330,,,,,,,,MeSH ID:C563527,,,, +BMGC_DS10010,BMG_DS037841,,UMLS ID:C1834339,,,,,,,,,Van der Woude syndrome,DOID:0060239,, +BMGC_DS10011,BMG_DS037842,"Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult",UMLS ID:C1834340,,,,,"necrotizing encephalomyelopathy, subacute, of Leigh, adult",MONDO:0008069,,MeSH ID:C563530,,,,OMIM ID:161700 +BMGC_DS10012,BMG_DS037843,"NASAL HYPERPIGMENTATION, FAMILIAL TRANSVERSE",UMLS ID:C1834369,,,,,"nasal hyperpigmentation, familial transverse",MONDO:0008066,,,,,,OMIM ID:161530 +BMGC_DS10013,BMG_DS037844,"NASAL GROOVE, FAMILIAL TRANSVERSE",UMLS ID:C1834370,,,,,"nasal groove, familial transverse",MONDO:0008065,,,,,,OMIM ID:161500 +BMGC_DS10014,BMG_DS037845,"Nasal Alar Collapse, Bilateral",UMLS ID:C1834371,,,,,"nasal alar collapse, bilateral",MONDO:0008063,,MeSH ID:C563533,,,,OMIM ID:161470 +BMGC_DS10015,BMG_DS037846,Narcolepsy 1,UMLS ID:C1834372,,,,,narcolepsy 1,MONDO:0008062,,MeSH ID:C563534,,,,OMIM ID:161400 +BMGC_DS10016,BMG_DS037850,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10",UMLS ID:C1834460,,,,,hypertrophic cardiomyopathy 10,MONDO:0012112,,,hypertrophic cardiomyopathy 10,DOID:0110316,,OMIM ID:608758 | OMIM ID:160781 +BMGC_DS10017,BMG_DS037851,"CARDIOMYOPATHY, DILATED, 1S",UMLS ID:C1834481,,,,,dilated cardiomyopathy 1S,MONDO:0013262,,,,,,OMIM ID:613426 | OMIM ID:160760 +BMGC_DS10018,BMG_DS037852,,UMLS ID:C1834523,,,,,Sheldon-hall syndrome,MONDO:0011128,,,,,, +BMGC_DS10019,BMG_DS037853,Myopia 2,UMLS ID:C1834531,,,,,"myopia 2, autosomal dominant",MONDO:0008053,,MeSH ID:C563541,,,,OMIM ID:160700 +BMGC_DS10020,BMG_DS037854,Myopathy with Storage of Glycoproteins and Glycosaminoglycans,UMLS ID:C1834532,,,,,myopathy with storage of glycoproteins and Glycosaminoglycans,MONDO:0008052,,MeSH ID:C563542,,,,OMIM ID:160570 +BMGC_DS10021,BMG_DS037856,"Myopathy, Centronuclear, Autosomal Dominant",UMLS ID:C1834558,,,,,,,"Myopathies, Structural, Congenital",MeSH ID:D020914,autosomal dominant centronuclear myopathy,DOID:0111217,, +BMGC_DS10022,BMG_DS037857,"Continuous Muscle Fiber Activity, Hereditary",UMLS ID:C1834559,,,,,hereditary continuous muscle fiber activity,MONDO:0019943,,MeSH ID:C563545,,,, +BMGC_DS10023,BMG_DS037858,"Myoglobinuria, Autosomal Dominant",UMLS ID:C1834567,,,,,autosomal dominant myoglobinuria,MONDO:0008046,,MeSH ID:C563546,,,,OMIM ID:160010 +BMGC_DS10024,BMG_DS037859,Jankovic Rivera syndrome,UMLS ID:C1834569,,,,,spinal muscular atrophy-progressive myoclonic epilepsy syndrome,MONDO:0008045,,MeSH ID:C537563,spinal muscular atrophy with progressive myoclonic epilepsy,DOID:0111527,,OMIM ID:159950 +BMGC_DS10025,BMG_DS037860,Myoclonic dystonia,UMLS ID:C1834570,Myoclonic dystonia (disorder) | Myoclonic dystonia,SNOMEDCT ID:439732004,,,myoclonus-dystonia syndrome | myoclonic dystonia 11,MONDO:0008044;MONDO:0000903,,MeSH ID:C536096,myoclonic dystonia,DOID:0090033,,OMIM ID:159900 +BMGC_DS10026,BMG_DS037861,"Myoclonus, Cerebellar Ataxia, and Deafness",UMLS ID:C1834579,,,,,myoclonus-cerebellar ataxia-deafness syndrome,MONDO:0008043,,MeSH ID:C563549,,,,OMIM ID:159800 +BMGC_DS10027,BMG_DS037863,"Myoclonic Epilepsy, Hartung Type",UMLS ID:C1834581,,,,,"myoclonic epilepsy, Hartung type",MONDO:0008041,,MeSH ID:C563550,,,,OMIM ID:159600 +BMGC_DS10028,BMG_DS037864,,UMLS ID:C1834582,,,,,transient myeloproliferative syndrome,MONDO:0008040,,,,,,OMIM ID:159595 +BMGC_DS10029,BMG_DS037865,,UMLS ID:C1834600,,,,,myelinated optic nerve fibers,MONDO:0008037,,,,,,OMIM ID:159500 +BMGC_DS10030,BMG_DS037866,"Myasthenia, Limb-Girdle, Autoimmune",UMLS ID:C1834635,,,,,"myasthenia, limb-girdle, autoimmune",MONDO:0008036,,MeSH ID:C563552,,,,OMIM ID:159400 +BMGC_DS10031,BMG_DS037868,"Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries",UMLS ID:C1834652,,,,,"muscular dystrophy, pseudohypertrophic, with Internalized capillaries",MONDO:0008034,,MeSH ID:C563554,,,,OMIM ID:159050 +BMGC_DS10032,BMG_DS037870,"Muscular dystrophy, limb-girdle, type 1A",UMLS ID:C1834659,,,,,,,,MeSH ID:C535906,,,, +BMGC_DS10033,BMG_DS037871,,UMLS ID:C1834671,,,,,facioscapulohumeral muscular dystrophy 2,MONDO:0008031,,,,,,OMIM ID:158901 +BMGC_DS10034,BMG_DS037872,Facioscapulohumeral muscular dystrophy 1a,UMLS ID:C1834673,,,,,,,,MeSH ID:C536391,,,, +BMGC_DS10035,BMG_DS037873,BETHLEM MYOPATHY 1,UMLS ID:C1834674,,,,,Bethlem myopathy,MONDO:0008029,,,,,,OMIM ID:158810 +BMGC_DS10036,BMG_DS037874,"Muscular Dystrophy, Barnes Type",UMLS ID:C1834688,,,,,"muscular dystrophy, Barnes type",MONDO:0008028,,MeSH ID:C563558,,,,OMIM ID:158800 +BMGC_DS10037,BMG_DS037875,"Muscular Atrophy, Malignant Neurogenic",UMLS ID:C1834689,,,,,"muscular atrophy, malignant neurogenic",MONDO:0008027,,MeSH ID:C563559,,,,OMIM ID:158650 +BMGC_DS10038,BMG_DS037876,"Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",UMLS ID:C1834690,,,,,autosomal dominant childhood-onset proximal spinal muscular atrophy,MONDO:0018190,,MeSH ID:C563560,,,, +BMGC_DS10039,BMG_DS037877,,UMLS ID:C1834692,,,,,"neuronopathy, distal hereditary motor, type 2A",MONDO:0008025,,,,,,OMIM ID:158590 +BMGC_DS10040,BMG_DS037878,"Neuropathy, Distal Hereditary Motor, Type VIIA",UMLS ID:C1834703,,,,,"neuronopathy, distal hereditary motor, type 7A",MONDO:0008024,,MeSH ID:C563562,,,,OMIM ID:158580 +BMGC_DS10041,BMG_DS037879,"Muscle Cramps, Familial",UMLS ID:C1834708,,,,,"muscle cramps, familial",MONDO:0008022,,MeSH ID:C563563,,,,OMIM ID:158400 +BMGC_DS10042,BMG_DS037880,CEREBELLOPARENCHYMAL DISORDER VI,UMLS ID:C1834711,,,,,,,,,,,,OMIM ID:158350 +BMGC_DS10043,BMG_DS037883,Multiple Exostoses with Spastic Tetraparesis,UMLS ID:C1834724,,,,,multiple exostoses with spastic tetraparesis,MONDO:0008020,,MeSH ID:C563566,,,,OMIM ID:158345 +BMGC_DS10044,BMG_DS037884,NONDISJUNCTION,UMLS ID:C1834741,,,,,nondisjunction,MONDO:0008014,,,,,,OMIM ID:158250 +BMGC_DS10045,BMG_DS037885,"CORONARY ARTERY DISEASE, DEVELOPMENT OF, IN HIV",UMLS ID:C1834751,,,,,,,,,,,,OMIM ID:158105 +BMGC_DS10046,BMG_DS037886,Monophalangy of Great Toe,UMLS ID:C1834753,,,,,Monophalangy of great toe,MONDO:0008012,,MeSH ID:C563570,,,,OMIM ID:158100 +BMGC_DS10047,BMG_DS037889,Macrosomia obesity macrocephaly ocular abnormalities,UMLS ID:C1834759,,,,,MOMO syndrome,MONDO:0008008,,MeSH ID:C535812,,,,OMIM ID:157980 +BMGC_DS10048,BMG_DS037890,MYXOMATOUS MITRAL VALVE PROLAPSE 1,UMLS ID:C1834819,,,,,MVP1,MONDO:0024529,,,,,,OMIM ID:157700 +BMGC_DS10049,BMG_DS037891,METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS,UMLS ID:C1834821,,,,,metaphyseal dysplasia without hypotrichosis,MONDO:0009601,,,,,,OMIM ID:157660 | OMIM ID:250460 +BMGC_DS10050,BMG_DS037892,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",UMLS ID:C1834846,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1",MONDO:0024528,,MeSH ID:C563575,,,,OMIM ID:157640 +BMGC_DS10051,BMG_DS037894,,UMLS ID:C1834870,,,,,mirror movements 1,MONDO:0008002,,,,,,OMIM ID:157600 +BMGC_DS10052,BMG_DS037896,Holoprosencephaly 2,UMLS ID:C1834877,,,,,holoprosencephaly 2,MONDO:0007999,,MeSH ID:C563579,holoprosencephaly 2,DOID:0110872,,OMIM ID:157170 +BMGC_DS10053,BMG_DS037899,"Microphthalmia, Isolated, With Corectopia",UMLS ID:C1834918,,,,,"microphthalmia, isolated, with corectopia",MONDO:0007996,,MeSH ID:C563581,,,,OMIM ID:156900 +BMGC_DS10054,BMG_DS037900,"Microphthalmia, Isolated, with Cataract 1",UMLS ID:C1834919,,,,,"microphthalmia, isolated, with cataract 1",MONDO:0007995,,MeSH ID:C563582,,,,OMIM ID:156850 +BMGC_DS10055,BMG_DS037901,Cloverleaf skull micromelia thoracic dysplasia,UMLS ID:C1834928,,,,,micromelic bone dysplasia with cloverleaf skull,MONDO:0007994,,MeSH ID:C536429,,,,OMIM ID:156830 +BMGC_DS10056,BMG_DS037903,"Microcornea, glaucoma, and absent frontal sinuses",UMLS ID:C1834935,,,,,microcornea-glaucoma-absent frontal sinuses syndrome,MONDO:0007992,,MeSH ID:C537552,,,,OMIM ID:156700 +BMGC_DS10057,BMG_DS037904,"Metatarsus Varus, Type I",UMLS ID:C1834968,,,,,"metatarsus varus, type 1",MONDO:0007985,,MeSH ID:C563585,,,,OMIM ID:156520 +BMGC_DS10058,BMG_DS037905,Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly,UMLS ID:C1834969,,,,,,,,MeSH ID:C563586,,,, +BMGC_DS10059,BMG_DS037908,"MESOMELIC DYSPLASIA, KANTAPUTRA TYPE",UMLS ID:C1835009,,,,,"mesomelic dysplasia, Kantaputra type",MONDO:0007977,,,,,,OMIM ID:156232 +BMGC_DS10060,BMG_DS037910,"Meralgia Paraesthetica, Familial",UMLS ID:C1835026,,,,,"meralgia paraesthetica, familial",MONDO:0007975,,MeSH ID:C563590,,,,OMIM ID:156220 +BMGC_DS10061,BMG_DS037911,Mental and Growth Retardation with Amblyopia,UMLS ID:C1835028,,,,,mental and growth retardation with amblyopia,MONDO:0007973,,MeSH ID:C563591,,,,OMIM ID:156190 +BMGC_DS10062,BMG_DS037912,"Membranous Cranial Ossification, Delayed",UMLS ID:C1835030,,,,,delayed membranous cranial ossification,MONDO:0007971,,MeSH ID:C563592,,,,OMIM ID:155980 +BMGC_DS10063,BMG_DS037915,,UMLS ID:C1835042,,,,,melanoma and neural system tumor syndrome,MONDO:0007967,,,melanoma and neural system tumor syndrome,DOID:0111511,,OMIM ID:155755 +BMGC_DS10064,BMG_DS037916,,UMLS ID:C1835043,,,,,"melanoma, malignant familial intraocular",MONDO:0007965,,,,,,OMIM ID:155700 +BMGC_DS10065,BMG_DS037917,,UMLS ID:C1835044,,,,,"melanoma, cutaneous malignant, susceptibility to, 2",MONDO:0007964,,,,,,OMIM ID:155601 +BMGC_DS10066,BMG_DS037918,,UMLS ID:C1835047,,,,,"melanoma, cutaneous malignant, susceptibility to, 1",MONDO:0007963,,,,,,OMIM ID:155600 +BMGC_DS10067,BMG_DS037920,,UMLS ID:C1835085,,,,,mediosternal depigmentation line,MONDO:0007957,,,,,,OMIM ID:155200 +BMGC_DS10068,BMG_DS037922,"Median cleft lip, corpus callosum, lipoma, and skin polyps",UMLS ID:C1835087,,,,,Pai syndrome,MONDO:0007956,,MeSH ID:C536135,,,,OMIM ID:155145 +BMGC_DS10069,BMG_DS037923,Maxillofacial Dysostosis,UMLS ID:C1835088,,,,,maxillofacial dysostosis,MONDO:0007952,,MeSH ID:C563599,,,,OMIM ID:155000 +BMGC_DS10070,BMG_DS037926,"Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type",UMLS ID:C1835134,,,,,"mannose 6-phosphate receptor recognition defect, Lebanese type",MONDO:0007945,,MeSH ID:C563601,,,,OMIM ID:154570 +BMGC_DS10071,BMG_DS037927,,UMLS ID:C1835159,,,,,malocclusion due to protuberant upper front teeth,MONDO:0007941,,,,,,OMIM ID:154300 +BMGC_DS10072,BMG_DS037930,"Hypomagnesemia 2, renal",UMLS ID:C1835171,,,,,renal hypomagnesemia 2,MONDO:0007937,,MeSH ID:C537152,,,,OMIM ID:154020 +BMGC_DS10073,BMG_DS037932,"Macular Dystrophy, Fenestrated Sheen Type",UMLS ID:C1835173,,,,,"macular dystrophy, fenestrated sheen type",MONDO:0007936,,MeSH ID:C563607,,,,OMIM ID:153890 +BMGC_DS10074,BMG_DS037933,"MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",UMLS ID:C1835178,,,,,,,,,,,,OMIM ID:153840 +BMGC_DS10075,BMG_DS037934,"MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1",UMLS ID:C1835192,,,,,"macroglobulinemia, Waldenstrom, 1",MONDO:0100281,,,,,,OMIM ID:153600 +BMGC_DS10076,BMG_DS037935,,UMLS ID:C1835223,,,,,"psoriatic arthritis, susceptibility to",MONDO:0100232,,,,,,OMIM ID:607507 +BMGC_DS10077,BMG_DS037936,"Lymphedema, microcephaly and chorioretinopathy syndrome",UMLS ID:C1835265,,,,,"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",MONDO:0007918,,MeSH ID:C537711,"microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",DOID:0060349,,OMIM ID:152950 +BMGC_DS10078,BMG_DS037937,Lymphedema and Cerebral Arteriovenous Anomaly,UMLS ID:C1835272,,,,,lymphedema-cerebral arteriovenous anomaly syndrome,MONDO:0007917,,MeSH ID:C563612,,,,OMIM ID:152900 +BMGC_DS10079,BMG_DS037939,"Lumbar Stenosis, Familial",UMLS ID:C1835320,,,,,"lumbar stenosis, familial",MONDO:0007914,,MeSH ID:C563613,,,,OMIM ID:152550 +BMGC_DS10080,BMG_DS037941,,UMLS ID:C1835356,,,,,lithium transport,MONDO:0007912,,,,,,OMIM ID:152420 +BMGC_DS10081,BMG_DS037945,"Lp(A) Deficiency, Congenital",UMLS ID:C1835362,,,,,,,,MeSH ID:C563618,,,, +BMGC_DS10082,BMG_DS037947,,UMLS ID:C1835373,,,,,lipoma of the conjunctiva,MONDO:0007907,,,,,,OMIM ID:151700 +BMGC_DS10083,BMG_DS037948,"Lip, Hamartomatous",UMLS ID:C1835395,,,,,"lip, hamartomatous",MONDO:0007905,,MeSH ID:C563621,,,,OMIM ID:151640 +BMGC_DS10084,BMG_DS037949,Median nodule of upper lip,UMLS ID:C1835396,Median nodule of upper lip (disorder) | Median nodule of upper lip,SNOMEDCT ID:722034006,,,median nodule of the upper lip,MONDO:0007904,,,,,,OMIM ID:151630 +BMGC_DS10085,BMG_DS037950,LI-FRAUMENI SYNDROME 1,UMLS ID:C1835398,,,,,,,,,,,,OMIM ID:191170 +BMGC_DS10086,BMG_DS037951,"Lichen Planus, Familial",UMLS ID:C1835402,,,,,"lichen planus, familial",MONDO:0007902,,MeSH ID:C563624,,,,OMIM ID:151620 +BMGC_DS10087,BMG_DS037952,Levator-Medial Rectus Synkinesis,UMLS ID:C1835403,,,,,levator-medial rectus synkinesis,MONDO:0007901,,MeSH ID:C563625,,,,OMIM ID:151610 +BMGC_DS10088,BMG_DS037953,"Leukocyte Nuclear Appendages, Hereditary Prevalence of",UMLS ID:C1835405,,,,,"leukocyte nuclear appendages, hereditary prevalence of",MONDO:0007898,,MeSH ID:C563626,,,,OMIM ID:151500 +BMGC_DS10089,BMG_DS037954,,UMLS ID:C1835407,,,,,"hepatitis C virus, susceptibility to",MONDO:0012292,,,,,,OMIM ID:609532 +BMGC_DS10090,BMG_DS037955,"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",UMLS ID:C1835437,,,,,"platyspondylic dysplasia, Torrance type",MONDO:0007895,,MeSH ID:C563627,Torrance type platyspondylic dysplasia,DOID:0111508,,OMIM ID:151210 +BMGC_DS10091,BMG_DS037956,Leri pleonosteosis,UMLS ID:C1835450,,,,,Leri pleonosteosis,MONDO:0007894,,MeSH ID:C537118,,,,OMIM ID:151200 +BMGC_DS10092,BMG_DS037957,"Lentiginosis, Centrofacial Neurodysraphic",UMLS ID:C1835484,,,,,"lentiginosis, centrofacial neurodysraphic",MONDO:0007890,,MeSH ID:C563630,,,,OMIM ID:151000 +BMGC_DS10093,BMG_DS037958,,UMLS ID:C1835488,,,,,leiomyoma of vulva and esophagus,MONDO:0007887,,,,,,OMIM ID:150700 +BMGC_DS10094,BMG_DS037961,"Tooth Agenesis, Selective, 4",UMLS ID:C1835492,,,,,"tooth agenesis, selective, 4",MONDO:0007881,,MeSH ID:C563634,,,,OMIM ID:150400 +BMGC_DS10095,BMG_DS037962,"Succedaneous Teeth, Agenesis Of",UMLS ID:C1835493,,,,,,,,MeSH ID:C563634,,,, +BMGC_DS10096,BMG_DS037964,"Lactic Acidosis, Chronic Adult Form",UMLS ID:C1835591,,,,,"lactic acidosis, chronic adult form",MONDO:0007873,,MeSH ID:C563640,,,,OMIM ID:150170 +BMGC_DS10097,BMG_DS037965,,UMLS ID:C1835612,,,,,familial congenital nasolacrimal duct obstruction,MONDO:0007871,,,,,,OMIM ID:149700 +BMGC_DS10098,BMG_DS037966,,UMLS ID:C1835613,,,,,"labia minora, incomplete adhesion of",MONDO:0007870,,,,,,OMIM ID:149600 +BMGC_DS10099,BMG_DS037967,,UMLS ID:C1835614,,,,,hereditary hyperekplexia,MONDO:0021022,,,,,, +BMGC_DS10100,BMG_DS037968,Keratosis focal palmoplantar gingival,UMLS ID:C1835650,,,,,focal palmoplantar and gingival keratoderma,MONDO:0007860,,MeSH ID:C536157,focal palmoplantar and gingival keratosis,DOID:0070553,,OMIM ID:148730 +BMGC_DS10101,BMG_DS037969,Keratosis palmoplantaris papulosa,UMLS ID:C1835662,,,,,punctate palmoplantar keratoderma type 1,MONDO:0019332,,MeSH ID:C536161,,,, +BMGC_DS10102,BMG_DS037970,Keratosis Palmaris et Plantaris with Clinodactyly,UMLS ID:C1835663,,,,,keratosis palmaris et plantaris-clinodactyly syndrome,MONDO:0007857,,MeSH ID:C563646,,,,OMIM ID:148520 +BMGC_DS10103,BMG_DS037971,,UMLS ID:C1835664,,,,,palmoplantar keratoderma-esophageal carcinoma syndrome,MONDO:0007856,,,palmoplantar keratoderma-esophageal carcinoma syndrome,DOID:0111506,,OMIM ID:148500 +BMGC_DS10104,BMG_DS037972,Keratoderma palmoplantar spastic paralysis,UMLS ID:C1835671,,,,,palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,MONDO:0007853,,MeSH ID:C536153,,,,OMIM ID:148360 +BMGC_DS10105,BMG_DS037973,Palmoplantar Keratoderma with Deafness,UMLS ID:C1835672,,,,,palmoplantar keratoderma-deafness syndrome,MONDO:0007852,,MeSH ID:C536152,palmoplantar keratoderma-deafness syndrome,DOID:0111505,,OMIM ID:148350 +BMGC_DS10106,BMG_DS037974,Keratoconus 1,UMLS ID:C1835677,,,,,keratoconus 1,MONDO:0007851,,MeSH ID:C563649,,,,OMIM ID:148300 +BMGC_DS10107,BMG_DS037975,Keratitis Fugax Hereditaria,UMLS ID:C1835697,,,,,keratitis fugax hereditaria,MONDO:0007849,,MeSH ID:C563650,,,,OMIM ID:148200 +BMGC_DS10108,BMG_DS037976,"Keratitis, hereditary",UMLS ID:C1835698,,,,,autosomal dominant keratitis,MONDO:0007848,,MeSH ID:C537022,autosomal dominant keratitis,DOID:0111383,,OMIM ID:148190 +BMGC_DS10109,BMG_DS037977,,UMLS ID:C1835713,,,,,"cirrhosis, noncryptogenic, susceptibility to",MONDO:0800422,,,,,, +BMGC_DS10110,BMG_DS037980,,UMLS ID:C1835808,,,,,"kallikrein, decreased urinary activity of",MONDO:0014415,,,,,,OMIM ID:615953 +BMGC_DS10111,BMG_DS037981,Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency,UMLS ID:C1835813,,,,,body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,MONDO:0012570,,MeSH ID:C563654,,,,OMIM ID:610842 +BMGC_DS10112,BMG_DS037982,"Mitral Valve Prolapse, Myxomatous 3",UMLS ID:C1835814,,,,,"mitral valve prolapse, myxomatous 3",MONDO:0012569,,MeSH ID:C563655,,,,OMIM ID:610840 +BMGC_DS10113,BMG_DS037984,"FANCONI ANEMIA, COMPLEMENTATION GROUP N",UMLS ID:C1835817,,,,,Fanconi anemia complementation group N,MONDO:0012565,,,Fanconi anemia complementation group N,DOID:0111094,,OMIM ID:610355 | OMIM ID:610832 +BMGC_DS10114,BMG_DS037986,Holoprosencephaly 9,UMLS ID:C1835819,,,,,holoprosencephaly 9,MONDO:0012563,,MeSH ID:C563659,holoprosencephaly 9,DOID:0110873,,OMIM ID:610829 +BMGC_DS10115,BMG_DS037987,HOLOPROSENCEPHALY 7,UMLS ID:C1835820,,,,,holoprosencephaly 7,MONDO:0012562,,,,,,OMIM ID:601309 | OMIM ID:610828 +BMGC_DS10116,BMG_DS037988,,UMLS ID:C1835826,,,,,congenital anomalies of kidney and urinary tract 1,MONDO:0012561,,,,,,OMIM ID:610805 +BMGC_DS10117,BMG_DS037989,Immunodeficiency due to Defect in MAPBP-Interacting Protein,UMLS ID:C1835829,,,,,primary immunodeficiency syndrome due to p14 deficiency,MONDO:0012559,,MeSH ID:C563663,,,,OMIM ID:610798 +BMGC_DS10118,BMG_DS037990,"Epiphyseal Dysplasia, Baumann Type",UMLS ID:C1835830,,,,,"epiphyseal dysplasia, Baumann type",MONDO:0012558,,MeSH ID:C563664,,,,OMIM ID:610797 +BMGC_DS10119,BMG_DS037991,Mitochondrial Phosphate Carrier Deficiency,UMLS ID:C1835845,,,,,cardiomyopathy-hypotonia-lactic acidosis syndrome,MONDO:0012557,,MeSH ID:C563665,,,,OMIM ID:610773 +BMGC_DS10120,BMG_DS037992,"Congenital Disorder Of Glycosylation, Type Im",UMLS ID:C1835849,,,,,DK1-congenital disorder of glycosylation,MONDO:0012556,,MeSH ID:C563666,,,,OMIM ID:610768 +BMGC_DS10121,BMG_DS037993,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11",UMLS ID:C1835851,,,,,autosomal recessive congenital ichthyosis 11,MONDO:0011218,,,,,,OMIM ID:602400 | OMIM ID:606797 +BMGC_DS10122,BMG_DS037994,Alopecia-Mental Retardation Syndrome 2,UMLS ID:C1835852,,,,,alopecia-intellectual disability syndrome 2,MONDO:0012487,,MeSH ID:C563668,alopecia-mental retardation syndrome 2,DOID:0080629,,OMIM ID:610422 +BMGC_DS10123,BMG_DS037995,"DEAFNESS, AUTOSOMAL RECESSIVE 68",UMLS ID:C1835854,,,,,autosomal recessive nonsyndromic hearing loss 68,MONDO:0012485,,,,,,OMIM ID:605111 | OMIM ID:610419 +BMGC_DS10124,BMG_DS037997,Cone-Rod Dystrophy 11,UMLS ID:C1835865,,,,,cone-rod dystrophy 11,MONDO:0012483,,MeSH ID:C563671,cone-rod dystrophy 11,DOID:0111018,,OMIM ID:610381 +BMGC_DS10125,BMG_DS037998,,UMLS ID:C1835867,,,,,"West Nile virus, susceptibility to",MONDO:0012482,,,,,,OMIM ID:610379 +BMGC_DS10126,BMG_DS038000,"Diabetes Mellitus, Transient Neonatal, 2",UMLS ID:C1835887,,,,,"diabetes mellitus, transient neonatal, 2",MONDO:0012480,,MeSH ID:C563672,,,,OMIM ID:610374 +BMGC_DS10127,BMG_DS038001,"Diarrhea 4, Malabsorptive, Congenital",UMLS ID:C1835888,,,,,congenital malabsorptive diarrhea 4,MONDO:0012479,,MeSH ID:C563673,,,,OMIM ID:610370 +BMGC_DS10128,BMG_DS038002,Orofacial Cleft 9,UMLS ID:C1835894,,,,,orofacial cleft 9,MONDO:0012478,,MeSH ID:C563675,orofacial cleft 9,DOID:0080402,,OMIM ID:610361 +BMGC_DS10129,BMG_DS038003,Retinitis Pigmentosa 33,UMLS ID:C1835895,,,,,retinitis pigmentosa 33,MONDO:0012477,,MeSH ID:C563676,retinitis pigmentosa 33,DOID:0110366,,OMIM ID:610359 +BMGC_DS10130,BMG_DS038004,"Spastic Paraplegia 30, Autosomal Recessive",UMLS ID:C1835896,,,,,,,,MeSH ID:C563677,,,, +BMGC_DS10131,BMG_DS038005,Retinal Cone Dystrophy 3B,UMLS ID:C1835897,,,,,cone dystrophy with supernormal rod response,MONDO:0012475,,MeSH ID:C563678,retinal cone dystrophy 3B,DOID:0081022,,OMIM ID:610356 +BMGC_DS10132,BMG_DS038006,"Epilepsy, Nocturnal Frontal Lobe, Type 4",UMLS ID:C1835905,,,,,autosomal dominant nocturnal frontal lobe epilepsy 4,MONDO:0012474,,MeSH ID:C563679,,,,OMIM ID:610353 +BMGC_DS10133,BMG_DS038007,Familial anomalous origin of right pulmonary artery,UMLS ID:C1835910,,,,,"right pulmonary artery, anomalous origin of, familial",MONDO:0012473,,MeSH ID:C535681,,,,OMIM ID:610338 +BMGC_DS10134,BMG_DS038008,AICARDI-GOUTIERES SYNDROME 4,UMLS ID:C1835912,,,,,Aicardi-Goutieres syndrome 4,MONDO:0012472,,,,,,OMIM ID:606034 | OMIM ID:610333 +BMGC_DS10135,BMG_DS038010,AICARDI-GOUTIERES SYNDROME 3,UMLS ID:C1835916,,,,,Aicardi-Goutieres syndrome 3,MONDO:0012471,,,,,,OMIM ID:610329 | OMIM ID:610330 +BMGC_DS10136,BMG_DS038011,,UMLS ID:C1835919,,,,,"systemic lupus erythematosus, susceptibility to, 6",MONDO:0012369,,,,,,OMIM ID:609939 +BMGC_DS10137,BMG_DS038012,Aminoacylase 1 deficiency,UMLS ID:C1835922,Aminoacylase 1 deficiency | Deficiency of aminoacylase 1 (disorder) | Deficiency of aminoacylase 1,SNOMEDCT ID:709282004,,,aminoacylase 1 deficiency,MONDO:0012368,,MeSH ID:C538246,,,,OMIM ID:609924 +BMGC_DS10138,BMG_DS038013,Retinitis Pigmentosa 31,UMLS ID:C1835923,,,,,retinitis pigmentosa 31,MONDO:0012367,,MeSH ID:C563685,retinitis pigmentosa 31,DOID:0110391,,OMIM ID:609923 +BMGC_DS10139,BMG_DS038016,"Cardiomyopathy, Dilated, 1q",UMLS ID:C1835926,,,,,dilated cardiomyopathy 1Q,MONDO:0012364,,MeSH ID:C563688,,,,OMIM ID:609915 +BMGC_DS10140,BMG_DS038017,Retinitis Pigmentosa 32,UMLS ID:C1835927,,,,,retinitis pigmentosa 32,MONDO:0012363,,MeSH ID:C563689,retinitis pigmentosa 32,DOID:0110355,,OMIM ID:609913 +BMGC_DS10141,BMG_DS038018,"CARDIOMYOPATHY, DILATED, 1P",UMLS ID:C1835928,,,,,dilated cardiomyopathy 1P,MONDO:0012362,,,,,,OMIM ID:172405 | OMIM ID:609909 +BMGC_DS10142,BMG_DS038020,"ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY",UMLS ID:C1835931,,,,,combined immunodeficiency due to partial RAG1 deficiency,MONDO:0012359,,,,,,OMIM ID:179615 | OMIM ID:609889 +BMGC_DS10143,BMG_DS038021,,UMLS ID:C1835932,,,,,"leprosy, susceptibility to, 1",MONDO:0012358,,,,,,OMIM ID:609888 +BMGC_DS10144,BMG_DS038022,"Glaucoma 1, Open Angle, G",UMLS ID:C1835933,,,,,"obsolete glaucoma 1, open angle, G",MONDO:0012357,,MeSH ID:C563692,,,,OMIM ID:609887 +BMGC_DS10145,BMG_DS038027,PARIETAL FORAMINA 3,UMLS ID:C1835980,,,,,parietal foramina 3,MONDO:0012302,,,,,,OMIM ID:609566 +BMGC_DS10146,BMG_DS038029,Nanophthalmos 2,UMLS ID:C1836006,,,,,nanophthalmos 2,MONDO:0012299,,MeSH ID:C563700,,,,OMIM ID:609549 +BMGC_DS10147,BMG_DS038031,"Spastic Paraplegia, Optic Atrophy, and Neuropathy",UMLS ID:C1836010,,,,,"spastic paraplegia, optic atropy, and neuropathy",MONDO:0012297,,MeSH ID:C563702,SPOAN syndrome,DOID:0060491,,OMIM ID:609541 +BMGC_DS10148,BMG_DS038034,"Drug Metabolism, Poor, CYP2C19-Related",UMLS ID:C1836023,,,,,,,,MeSH ID:C563703,,,, +BMGC_DS10149,BMG_DS038035,"Deafness, Autosomal Recessive 23",UMLS ID:C1836027,,,,,autosomal recessive nonsyndromic hearing loss 23,MONDO:0012293,,MeSH ID:C563705,,,,OMIM ID:609533 +BMGC_DS10150,BMG_DS038036,Immunoglobulin a deficiency 2,UMLS ID:C1836032,,,,,immunoglobulin A deficiency 2,MONDO:0012291,,MeSH ID:C536291,,,,OMIM ID:609529 +BMGC_DS10151,BMG_DS038037,"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",UMLS ID:C1836033,,,,,CEDNIK syndrome,MONDO:0012290,,MeSH ID:C537943,CEDNIK syndrome,DOID:0060337,,OMIM ID:609528 +BMGC_DS10152,BMG_DS038038,"Filaminopathy, autosomal dominant",UMLS ID:C1836050,,,,,myofibrillar myopathy 5,MONDO:0012289,,MeSH ID:C537932,,,,OMIM ID:609524 +BMGC_DS10153,BMG_DS038040,"Stickler Syndrome, Type I, Nonsyndromic Ocular",UMLS ID:C1836080,,,,,"Stickler syndrome, type I, nonsyndromic ocular",MONDO:0012287,,MeSH ID:C563709,,,,OMIM ID:609508 +BMGC_DS10154,BMG_DS038041,"RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",UMLS ID:C1836081,,,,,autosomal dominant rhegmatogenous retinal detachment,MONDO:0016202,,,,,,OMIM ID:120140 | OMIM ID:609508 +BMGC_DS10155,BMG_DS038042,LEFT VENTRICULAR NONCOMPACTION 2,UMLS ID:C1836118,,,,,left ventricular noncompaction 2,MONDO:0012285,,,,,,OMIM ID:609470 +BMGC_DS10156,BMG_DS038045,Al-Gazali Syndrome,UMLS ID:C1836121,,,,,Al-Gazali syndrome,MONDO:0012282,,MeSH ID:C536817,,,,OMIM ID:609465 +BMGC_DS10157,BMG_DS038046,"SARCOIDOSIS, EARLY-ONSET",UMLS ID:C1836122,,,,,,,,,,,,OMIM ID:186580 +BMGC_DS10158,BMG_DS038047,Goldberg-Shprintzen megacolon syndrome,UMLS ID:C1836123,,,,,Goldberg-Shprintzen syndrome,MONDO:0012280,,MeSH ID:C537279,Goldberg-Shprintzen syndrome,DOID:0060481,,OMIM ID:609460 +BMGC_DS10159,BMG_DS038049,"Supranuclear Palsy, Progressive, 2",UMLS ID:C1836148,,,,,"supranuclear palsy, progressive, 2",MONDO:0012278,,MeSH ID:C563717,,,,OMIM ID:609454 +BMGC_DS10160,BMG_DS038050,"Myopathy, Myofibrillar, Zasp-Related",UMLS ID:C1836155,,,,,,,,MeSH ID:C563718,,,, +BMGC_DS10161,BMG_DS038051,Generalized Epilepsy and Paroxysmal Dyskinesia,UMLS ID:C1836173,,,,,,,,MeSH ID:C563719,,,, +BMGC_DS10162,BMG_DS038052,"Chondrodysplasia, acromesomelic, with genital anomalies",UMLS ID:C1836182,,,,,,,,MeSH ID:C537913,,,, +BMGC_DS10163,BMG_DS038053,"DEAFNESS, AUTOSOMAL RECESSIVE 48",UMLS ID:C1836199,,,,,autosomal recessive nonsyndromic hearing loss 48,MONDO:0012273,,,,,,OMIM ID:605564 | OMIM ID:609439 +BMGC_DS10164,BMG_DS038054,"Mental retardation, keratoconus, febrile seizures, and sinoatrial block",UMLS ID:C1836202,,,,,"intellectual disability, keratoconus, febrile seizures, and sinoatrial block",MONDO:0012272,,MeSH ID:C537452,,,,OMIM ID:609438 +BMGC_DS10165,BMG_DS038055,"Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",UMLS ID:C1836206,,,,,mesoaxial synostotic syndactyly with phalangeal reduction,MONDO:0012271,,MeSH ID:C563721,,,,OMIM ID:609432 +BMGC_DS10166,BMG_DS038056,Tukel syndrome,UMLS ID:C1836217,,,,,Tukel syndrome,MONDO:0012270,,MeSH ID:C536925,Tukel syndrome,DOID:0081021,,OMIM ID:609428 +BMGC_DS10167,BMG_DS038057,,UMLS ID:C1836230,,,,,susceptibility to HIV infection,MONDO:0004951,,,,,,OMIM ID:609423 +BMGC_DS10168,BMG_DS038058,Holoprosencephaly 8,UMLS ID:C1836254,,,,,holoprosencephaly 8,MONDO:0012267,,MeSH ID:C563723,holoprosencephaly 8,DOID:0110879,,OMIM ID:609408 +BMGC_DS10169,BMG_DS038059,Preeclampsia Eclampsia 4,UMLS ID:C1836255,,,,,preeclampsia/eclampsia 4,MONDO:0012266,,MeSH ID:C563724,,,,OMIM ID:609404 +BMGC_DS10170,BMG_DS038064,"Cataract, Congenital Nuclear, Autosomal Recessive 1",UMLS ID:C1836272,,,,,cataract 35,MONDO:0012260,,MeSH ID:C563728,,,,OMIM ID:609376 +BMGC_DS10171,BMG_DS038065,Epidermolysis Bullosa Simplex with Migratory Circinate Erythema,UMLS ID:C1836284,,,,,"epidermolysis bullosa simplex 2E, with migratory circinate erythema",MONDO:0012258,,MeSH ID:C563730,,,,OMIM ID:609352 +BMGC_DS10172,BMG_DS038067,"Spastic Paraplegia 28, Autosomal Recessive",UMLS ID:C1836295,,,,,hereditary spastic paraplegia 28,MONDO:0012256,,MeSH ID:C563732,,,,OMIM ID:609340 +BMGC_DS10173,BMG_DS038068,Carotid Intimal Medial Thickness 1,UMLS ID:C1836302,,,,,,,,MeSH ID:C563733,,,, +BMGC_DS10174,BMG_DS038071,,UMLS ID:C1836315,,,,,"multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",MONDO:0012253,,,,,,OMIM ID:609324 +BMGC_DS10175,BMG_DS038072,Rhabdoid Tumor Predisposition Syndrome 1,UMLS ID:C1836327,,,,,rhabdoid tumor predisposition syndrome 1,MONDO:0012252,,MeSH ID:C563738,,,,OMIM ID:609322 +BMGC_DS10176,BMG_DS038073,Erythrokeratodermia Variabilis 3,UMLS ID:C1836330,,,,,MEDNIK syndrome,MONDO:0012251,,MeSH ID:C563739,,,,OMIM ID:609313 +BMGC_DS10177,BMG_DS038074,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H",UMLS ID:C1836336,,,,,Charcot-Marie-Tooth disease type 4H,MONDO:0012250,,,,,,OMIM ID:609311 | OMIM ID:611104 +BMGC_DS10178,BMG_DS038075,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",UMLS ID:C1836373,,,,,autosomal recessive limb-girdle muscular dystrophy type 2K,MONDO:0012248,,,,,,OMIM ID:609308 +BMGC_DS10179,BMG_DS038076,SPINOCEREBELLAR ATAXIA 27,UMLS ID:C1836383,,,,,spinocerebellar ataxia type 27,MONDO:0012247,,,spinocerebellar ataxia type 27,DOID:0050976,,OMIM ID:193003 | OMIM ID:609307 +BMGC_DS10180,BMG_DS038077,SPINOCEREBELLAR ATAXIA 26,UMLS ID:C1836395,,,,,spinocerebellar ataxia type 26,MONDO:0012246,,,,,,OMIM ID:130610 | OMIM ID:609306 +BMGC_DS10181,BMG_DS038079,"B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations",UMLS ID:C1836437,,,,,"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations",MONDO:0012243,,MeSH ID:C563745,,,,OMIM ID:609296 +BMGC_DS10182,BMG_DS038080,Familial neurocardiogenic syncope,UMLS ID:C1836438,,,,,"syncope, familial vasovagal",MONDO:0012242,,MeSH ID:C536849,,,,OMIM ID:609289 +BMGC_DS10183,BMG_DS038081,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",UMLS ID:C1836439,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",MONDO:0012241,,MeSH ID:C563747,,,,OMIM ID:609286 +BMGC_DS10184,BMG_DS038082,Nemaline myopathy 4,UMLS ID:C1836447,,,,,congenital myopathy 23,MONDO:0012240,,MeSH ID:C538351,nemaline myopathy 4,DOID:0110932,,OMIM ID:609285 +BMGC_DS10185,BMG_DS038083,Nemaline myopathy 1,UMLS ID:C1836448,,,,,,,,MeSH ID:C538348,nemaline myopathy 1,DOID:0110926,, +BMGC_DS10186,BMG_DS038084,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",UMLS ID:C1836460,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",MONDO:0012238,,MeSH ID:C563750,,,,OMIM ID:609283 +BMGC_DS10187,BMG_DS038085,Nemaline myopathy 6,UMLS ID:C1836472,,,,,nemaline myopathy 6,MONDO:0012237,,MeSH ID:C538398,nemaline myopathy 6,DOID:0110935,,OMIM ID:609273 +BMGC_DS10188,BMG_DS038087,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",UMLS ID:C1836474,,,,,autosomal recessive spinocerebellar ataxia 7,MONDO:0012235,,,autosomal recessive spinocerebellar ataxia 7,DOID:0080059,,OMIM ID:609270 | OMIM ID:607998 +BMGC_DS10189,BMG_DS038089,Li-Fraumeni Syndrome 2,UMLS ID:C1836482,,,,,obsolete Li-Fraumeni syndrome 2,MONDO:0012233,,MeSH ID:C563755,Li-Fraumeni syndrome 2,DOID:0111504,,OMIM ID:609265 +BMGC_DS10190,BMG_DS038090,"Stuttering, Familial Persistent 2",UMLS ID:C1836484,,,,,"stuttering, familial persistent, 2",MONDO:0012232,,MeSH ID:C563756,,,,OMIM ID:609261 +BMGC_DS10191,BMG_DS038091,"Charcot-Marie-Tooth Disease, Axonal, Type 2A2",UMLS ID:C1836485,,,,,,,,MeSH ID:C563757,,,, +BMGC_DS10192,BMG_DS038092,Myopia 10,UMLS ID:C1836503,,,,,myopia 10,MONDO:0012230,,MeSH ID:C563758,,,,OMIM ID:609259 +BMGC_DS10193,BMG_DS038093,Myopia 9,UMLS ID:C1836504,,,,,myopia 9,MONDO:0012229,,MeSH ID:C563759,,,,OMIM ID:609258 +BMGC_DS10194,BMG_DS038094,Myopia 8,UMLS ID:C1836505,,,,,myopia 8,MONDO:0012228,,MeSH ID:C563760,,,,OMIM ID:609257 +BMGC_DS10195,BMG_DS038095,Myopia 7,UMLS ID:C1836506,,,,,myopia 7,MONDO:0012227,,MeSH ID:C563761,,,,OMIM ID:609256 +BMGC_DS10196,BMG_DS038096,,UMLS ID:C1836507,,,,,"febrile seizures, familial, 5",MONDO:0012226,,,,,,OMIM ID:609255 +BMGC_DS10197,BMG_DS038097,Generalized onset tonic epileptic seizure,UMLS ID:C1836508,Generalised tonic seizure | Generalized tonic seizure | Generalized onset tonic epileptic seizure (finding) | Generalized onset tonic epileptic seizure | Generalised onset tonic epileptic seizure | Generalized-onset tonic epileptic seizure | Generalised-onset tonic epileptic seizure,SNOMEDCT ID:1208969008,,,,,,,,,, +BMGC_DS10198,BMG_DS038098,Senior-Loken Syndrome 5,UMLS ID:C1836517,,,,,Senior-Loken syndrome 5,MONDO:0012225,,MeSH ID:C563763,,,,OMIM ID:609254 +BMGC_DS10199,BMG_DS038099,,UMLS ID:C1836518,,,,,"febrile seizures, familial, 6",MONDO:0012224,,,,,,OMIM ID:609253 +BMGC_DS10200,BMG_DS038101,Alpha-N-acetylgalactosaminidase deficiency type 2,UMLS ID:C1836522,Alpha-N-acetylgalactosaminidase deficiency type 2 | Alpha-N-acetylgalactosaminidase deficiency type 2 (disorder) | Schindler disease type 2 | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 2,SNOMEDCT ID:880065001,,,alpha-N-acetylgalactosaminidase deficiency type 2,MONDO:0012222,,MeSH ID:C536631,,,,OMIM ID:609242 +BMGC_DS10201,BMG_DS038102,Alpha-N-acetylgalactosaminidase deficiency type 1,UMLS ID:C1836544,Schindler disease type 1 | Alpha-N-acetylgalactosaminidase deficiency type 1 | Alpha-N-acetylgalactosaminidase deficiency type 1 (disorder) | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 1,SNOMEDCT ID:879937000,,,alpha-N-acetylgalactosaminidase deficiency type 1,MONDO:0012221,,,,,,OMIM ID:609241 +BMGC_DS10202,BMG_DS038103,"GRISCELLI SYNDROME, TYPE 3",UMLS ID:C1836573,,,,,Griscelli syndrome type 3,MONDO:0012220,,,Griscelli syndrome type 3,DOID:0060834,,OMIM ID:606526 | OMIM ID:609227 +BMGC_DS10203,BMG_DS038104,"Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type",UMLS ID:C1836584,,,,,"spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type",MONDO:0012219,,MeSH ID:C563772,,,,OMIM ID:609223 +BMGC_DS10204,BMG_DS038105,Bruck syndrome 2,UMLS ID:C1836602,,,,,Bruck syndrome 2,MONDO:0012217,,MeSH ID:C537407,,,,OMIM ID:609220 +BMGC_DS10205,BMG_DS038106,Foveal Hypoplasia and Anterior Segment Dysgenesis,UMLS ID:C1836603,,,,,,,,MeSH ID:C563774,,,, +BMGC_DS10206,BMG_DS038107,Glucocorticoid Deficiency 3,UMLS ID:C1836621,,,,,glucocorticoid deficiency 3,MONDO:0012214,,MeSH ID:C563776,,,,OMIM ID:609197 +BMGC_DS10207,BMG_DS038108,"Spastic paraplegia 26, autosomal recessive",UMLS ID:C1836632,,,,,hereditary spastic paraplegia 26,MONDO:0012213,,MeSH ID:C536862,,,,OMIM ID:609195 +BMGC_DS10208,BMG_DS038109,Loeys-Dietz Aortic Aneurysm Syndrome,UMLS ID:C1836635,,,,,,,Loeys-Dietz Syndrome,MeSH ID:D055947,Loeys-Dietz syndrome,DOID:0050466,, +BMGC_DS10209,BMG_DS038110,"Dissection, Ascending Aorta",UMLS ID:C1836653,,,,,,,"Dissection, Ascending Aorta",MeSH ID:D000094630,,,, +BMGC_DS10210,BMG_DS038111,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If",UMLS ID:C1836669,,,,,MPDU1-congenital disorder of glycosylation,MONDO:0012211,,,congenital disorder of glycosylation If,DOID:0080558,,OMIM ID:604041 | OMIM ID:609180 +BMGC_DS10211,BMG_DS038113,"Total Hypotrichosis, Mari type",UMLS ID:C1836672,,,,,hypotrichosis 7,MONDO:0011452,,MeSH ID:C536973,,,,OMIM ID:604379 +BMGC_DS10212,BMG_DS038114,Branchiogenic-Deafness Syndrome,UMLS ID:C1836673,,,,,branchiogenic deafness syndrome,MONDO:0012209,,MeSH ID:C563780,,,,OMIM ID:609166 +BMGC_DS10213,BMG_DS038117,,UMLS ID:C1836683,,,,,spondyloepiphyseal dysplasia with metatarsal shortening,MONDO:0012206,,,,,,OMIM ID:609162 +BMGC_DS10214,BMG_DS038118,"Striatal Degeneration, Autosomal Dominant",UMLS ID:C1836694,,,,,"striatal degeneration, autosomal dominant",MONDO:0000211,,MeSH ID:C563783,,,, +BMGC_DS10215,BMG_DS038120,"Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",UMLS ID:C1836705,,,,,familial pseudohyperkalemia,MONDO:0012204,,MeSH ID:C563785,,,,OMIM ID:609153 +BMGC_DS10216,BMG_DS038121,"Hyperthyroidism, Nonautoimmune",UMLS ID:C1836706,,,,,familial hyperthyroidism due to mutations in TSH receptor,MONDO:0012203,,MeSH ID:C563786,,,,OMIM ID:609152 +BMGC_DS10217,BMG_DS038122,,UMLS ID:C1836721,,,,,"malaria, mild, susceptibility to",MONDO:0012202,,,,,,OMIM ID:609148 +BMGC_DS10218,BMG_DS038124,"Corneal Dystrophy, Posterior Polymorphous, 3",UMLS ID:C1836724,,,,,posterior polymorphous corneal dystrophy 3,MONDO:0012200,,MeSH ID:C563788,,,,OMIM ID:609141 +BMGC_DS10219,BMG_DS038125,"Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",UMLS ID:C1836727,,,,,PCWH syndrome,MONDO:0012198,,MeSH ID:C563789,,,,OMIM ID:609136 +BMGC_DS10220,BMG_DS038126,,UMLS ID:C1836743,,,,,autosomal dominant auditory neuropathy 1,MONDO:0012196,,,,,,OMIM ID:609129 +BMGC_DS10221,BMG_DS038127,"Arthrogryposis, Distal, Type 4",UMLS ID:C1836756,,,,,arthrogryposis-severe scoliosis syndrome,MONDO:0012195,,MeSH ID:C563791,distal arthrogryposis type 4,DOID:0111610,,OMIM ID:609128 +BMGC_DS10222,BMG_DS038128,"ANEURYSM, INTRACRANIAL BERRY, 3",UMLS ID:C1836757,,,,,"aneurysm, intracranial berry, 3",MONDO:0012194,,,intracranial berry aneurysm 3,DOID:0080966,,OMIM ID:609122 +BMGC_DS10223,BMG_DS038130,"Limb-Girdle Muscular Dystrophy, Type 1G",UMLS ID:C1836765,,,,,autosomal dominant limb-girdle muscular dystrophy type 1G,MONDO:0012193,,MeSH ID:C563794,,,,OMIM ID:609115 +BMGC_DS10224,BMG_DS038131,"TELOMERE LENGTH, MEAN LEUKOCYTE",UMLS ID:C1836777,,,,,,,,,,,,OMIM ID:609113 +BMGC_DS10225,BMG_DS038132,PANCREATIC AND CEREBELLAR AGENESIS,UMLS ID:C1836780,,,,,permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,MONDO:0012192,,,,,,OMIM ID:609069 | OMIM ID:607194 +BMGC_DS10226,BMG_DS038133,Combined Oxidative Phosphorylation Deficiency 1,UMLS ID:C1836797,,,,,hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,MONDO:0012191,,MeSH ID:C563797,combined oxidative phosphorylation deficiency 1,DOID:0111474,,OMIM ID:609060 +BMGC_DS10227,BMG_DS038134,Nephropathy with Pretibial Epidermolysis Bullosa and Deafness,UMLS ID:C1836823,,,,,"epidermolysis bullosa simplex 7, with nephropathy and deafness",MONDO:0012190,,MeSH ID:C563798,,,,OMIM ID:609057 +BMGC_DS10228,BMG_DS038135,Amish Infantile Epilepsy Syndrome,UMLS ID:C1836824,,,,,GM3 synthase deficiency,MONDO:0018274,,MeSH ID:C563799,,,,OMIM ID:609056 +BMGC_DS10229,BMG_DS038136,Developmental regression,UMLS ID:C1836830,Developmental regression | Developmental regression (disorder),SNOMEDCT ID:609225004,,,,,,,,,,OMIM ID:MTHU001319 +BMGC_DS10230,BMG_DS038137,"Ceroid lipofuscinosis, neuronal 9",UMLS ID:C1836841,,,,,neuronal ceroid lipofuscinosis 9,MONDO:0012188,,MeSH ID:C537953,,,,OMIM ID:609055 +BMGC_DS10231,BMG_DS038138,"FANCONI ANEMIA, COMPLEMENTATION GROUP J",UMLS ID:C1836860,,,,,Fanconi anemia complementation group J,MONDO:0012187,,,Fanconi anemia complementation group J,DOID:0111097,,OMIM ID:605882 | OMIM ID:609054 +BMGC_DS10232,BMG_DS038139,"FANCONI ANEMIA, COMPLEMENTATION GROUP I",UMLS ID:C1836861,,,,,Fanconi anemia complementation group I,MONDO:0012186,,,Fanconi anemia complementation group I,DOID:0111091,,OMIM ID:609053 | OMIM ID:611360 +BMGC_DS10233,BMG_DS038140,"Spondylometaphyseal Dysplasia, Type A4",UMLS ID:C1836862,,,,,"spondylometaphyseal dysplasia, A4 type",MONDO:0012185,,MeSH ID:C563803,spondylometaphyseal dysplasia type A4,DOID:0112301,,OMIM ID:609052 +BMGC_DS10234,BMG_DS038141,Pierson syndrome,UMLS ID:C1836876,Pierson syndrome (disorder) | Pierson syndrome | Microcoria and congenital nephrosis syndrome,SNOMEDCT ID:723449004,,,Pierson syndrome,MONDO:0012184,,MeSH ID:C537185,Pierson syndrome,DOID:0060852,,OMIM ID:609049 +BMGC_DS10235,BMG_DS038142,,UMLS ID:C1836892,,,,,"melanoma, cutaneous malignant, susceptibility to, 3",MONDO:0012183,,,,,,OMIM ID:609048 +BMGC_DS10236,BMG_DS038144,"Spastic Paraplegia 27, Autosomal Recessive",UMLS ID:C1836899,,,,,hereditary spastic paraplegia 27,MONDO:0012181,,MeSH ID:C563807,,,,OMIM ID:609041 +BMGC_DS10237,BMG_DS038145,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 9",UMLS ID:C1836906,,,,,arrhythmogenic right ventricular dysplasia 9,MONDO:0012180,,MeSH ID:C563808,,,,OMIM ID:609040 +BMGC_DS10238,BMG_DS038146,NARCOLEPSY 3,UMLS ID:C1836907,,,,,narcolepsy 3,MONDO:0012179,,,,,,OMIM ID:609039 +BMGC_DS10239,BMG_DS038147,"Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature",UMLS ID:C1836915,,,,,"intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature",MONDO:0012178,,MeSH ID:C563810,,,,OMIM ID:609037 +BMGC_DS10240,BMG_DS038148,POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA,UMLS ID:C1836916,,,,,posterior column ataxia-retinitis pigmentosa syndrome,MONDO:0012177,,,,,,OMIM ID:609033 | OMIM ID:609144 +BMGC_DS10241,BMG_DS038149,Emanuel syndrome,UMLS ID:C1836929,Der(22) syndrome due to 3:1 meiotic disjunction events | Supernumerary der(22)t(11;22) syndrome | Supernumerary derivative 22 chromosome syndrome | Emanuel syndrome | Supernumerary der(22)t(11;22) syndrome (disorder) | Supernumerary der(22) syndrome,SNOMEDCT ID:702417004,,,Emanuel syndrome,MONDO:0012176,,MeSH ID:C535733,,,,OMIM ID:609029 +BMGC_DS10242,BMG_DS038151,Peripheral Cone Dystrophy,UMLS ID:C1836946,,,,,peripheral cone dystrophy,MONDO:0012174,,MeSH ID:C563813,,,,OMIM ID:609021 +BMGC_DS10243,BMG_DS038152,Marfanoid Habitus with Situs Inversus,UMLS ID:C1836994,,,,,marfanoid habitus with situs inversus,MONDO:0012171,,MeSH ID:C563814,,,,OMIM ID:609008 +BMGC_DS10244,BMG_DS038153,"DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT",UMLS ID:C1837007,,,,,autosomal recessive nonsyndromic hearing loss 36,MONDO:0012170,,,,,,OMIM ID:609006 +BMGC_DS10245,BMG_DS038154,Premature Ovarian Failure 3,UMLS ID:C1837008,,,,,premature ovarian failure 3,MONDO:0012169,,MeSH ID:C563816,,,,OMIM ID:608996 +BMGC_DS10246,BMG_DS038155,,UMLS ID:C1837009,,,,,"dyslexia, susceptibility to, 8",MONDO:0012168,,,,,,OMIM ID:608995 +BMGC_DS10247,BMG_DS038156,"Atrial Fibrillation, Familial, 3",UMLS ID:C1837014,,,,,"atrial fibrillation, familial, 3",MONDO:0011857,,MeSH ID:C563817,,,,OMIM ID:607554 +BMGC_DS10248,BMG_DS038157,,UMLS ID:C1837015,,,,,autosomal dominant sensory ataxia 1,MONDO:0012166,,,,,,OMIM ID:608984 +BMGC_DS10249,BMG_DS038158,"CATARACT, CONGENITAL, CERULEAN TYPE, 3",UMLS ID:C1837023,,,,,,,,,,,,OMIM ID:115700 +BMGC_DS10250,BMG_DS038159,,UMLS ID:C1837026,,,,,Meacham syndrome,MONDO:0012164,,,,,,OMIM ID:608978 +BMGC_DS10251,BMG_DS038160,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",UMLS ID:C1837028,,,,,,,,MeSH ID:C563822,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive",DOID:0090014,, +BMGC_DS10252,BMG_DS038161,"Macular Dystrophy, Butterfly-Shaped Pigmentary, 2",UMLS ID:C1837029,,,,,patterned macular dystrophy 2,MONDO:0012162,,MeSH ID:C536309,,,,OMIM ID:608970 +BMGC_DS10253,BMG_DS038162,"CD8 Deficiency, Familial",UMLS ID:C1837065,,,,,susceptibility to respiratory infections associated with CD8alpha chain mutation,MONDO:0012161,,MeSH ID:C563824,,,,OMIM ID:608957 +BMGC_DS10254,BMG_DS038163,Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy,UMLS ID:C1837073,,,,,spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,MONDO:0012160,,MeSH ID:C563825,spondylometaphyseal dysplasia with cone-rod dystrophy,DOID:0112300,,OMIM ID:608940 +BMGC_DS10255,BMG_DS038166,,UMLS ID:C1837091,,,,,congenital myasthenic syndrome 4C,MONDO:0012157,,,,,,OMIM ID:608931 +BMGC_DS10256,BMG_DS038167,"Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",UMLS ID:C1837092,,,,,,,,MeSH ID:C563829,,,, +BMGC_DS10257,BMG_DS038168,"Myasthenic Syndrome, Congenital, Fast-Channel",UMLS ID:C1837122,,,,,,,,MeSH ID:C563832,,,, +BMGC_DS10258,BMG_DS038169,Myopia 6,UMLS ID:C1837148,,,,,myopia 6,MONDO:0012154,,MeSH ID:C536105,,,,OMIM ID:608908 +BMGC_DS10259,BMG_DS038170,Alzheimer Disease 9,UMLS ID:C1837149,,,,,,,,MeSH ID:C563834,,,, +BMGC_DS10260,BMG_DS038175,"Drug Metabolism, Poor, CYP2D6-Related",UMLS ID:C1837154,,,,,"obsolete drug metabolism, poor, CYP2D6-related",MONDO:0012148,,MeSH ID:C563835,,,,OMIM ID:608902 +BMGC_DS10261,BMG_DS038176,,UMLS ID:C1837173,,,,,"coronary heart disease, susceptibility to, 5",MONDO:0012147,,,,,,OMIM ID:608901 +BMGC_DS10262,BMG_DS038177,"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3",UMLS ID:C1837174,,,,,familial hemophagocytic lymphohistiocytosis 3,MONDO:0012146,,,familial hemophagocytic lymphohistiocytosis 3,DOID:0110923,,OMIM ID:608897 | OMIM ID:608898 +BMGC_DS10263,BMG_DS038178,"MACULAR DEGENERATION, AGE-RELATED, 3",UMLS ID:C1837187,,,,,"macular degeneration, age-related, 3",MONDO:0012145,,,,,,OMIM ID:604580 | OMIM ID:608895 +BMGC_DS10264,BMG_DS038179,,UMLS ID:C1837203,,,,,Waardenburg syndrome type 2D,MONDO:0012144,,,,,,OMIM ID:608890 +BMGC_DS10265,BMG_DS038180,"Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",UMLS ID:C1837206,,,,,hereditary cryohydrocytosis with reduced stomatin,MONDO:0012143,,MeSH ID:C563840,,,,OMIM ID:608885 +BMGC_DS10266,BMG_DS038181,OROFACIAL CLEFT 5,UMLS ID:C1837210,,,,,orofacial cleft 5,MONDO:0012142,,,,,,OMIM ID:608874 | OMIM ID:142983 +BMGC_DS10267,BMG_DS038182,,UMLS ID:C1837213,,,,,"orofacial cleft 6, susceptibility to",MONDO:0012141,,,,,,OMIM ID:608864 +BMGC_DS10268,BMG_DS038183,,UMLS ID:C1837218,,,,,isolated cleft palate,MONDO:0007336,,,,,,OMIM ID:119540 +BMGC_DS10269,BMG_DS038184,"Muscular Dystrophy, Congenital, Type 1D",UMLS ID:C1837229,,,,,muscular dystrophy-dystroglycanopathy type B6,MONDO:0012138,,MeSH ID:C563844,,,,OMIM ID:608840 +BMGC_DS10270,BMG_DS038185,Carney Complex Variant,UMLS ID:C1837245,,,,,Carney complex - trismus - pseudocamptodactyly syndrome,MONDO:0012137,,MeSH ID:C563845,,,,OMIM ID:608837 +BMGC_DS10271,BMG_DS038189,"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3",UMLS ID:C1837308,,,,,"myoclonic epilepsy, juvenile, susceptibility to, 3",MONDO:0012134,,,juvenile myoclonic epilepsy 3,DOID:0111326,,OMIM ID:608816 +BMGC_DS10272,BMG_DS038191,,UMLS ID:C1837315,,,,,"colorectal cancer, susceptibility to, 1",MONDO:0012132,,,,,,OMIM ID:608812 +BMGC_DS10273,BMG_DS038193,Alpha-B Crystallinopathy,UMLS ID:C1837317,,,,,myofibrillar myopathy 2,MONDO:0012130,,MeSH ID:C563848,,,,OMIM ID:608810 +BMGC_DS10274,BMG_DS038196,,UMLS ID:C1837341,,,,,"transposition of the great arteries, dextro-looped",MONDO:0012128,,,,,,OMIM ID:608808 +BMGC_DS10275,BMG_DS038197,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",UMLS ID:C1837342,,,,,autosomal recessive limb-girdle muscular dystrophy type 2J,MONDO:0012127,,,,,,OMIM ID:608807 +BMGC_DS10276,BMG_DS038198,"Leukodystrophy, Hypomyelinating, 2",UMLS ID:C1837355,,,,,hypomyelinating leukodystrophy 2,MONDO:0012125,,MeSH ID:C563855,,,,OMIM ID:608804 +BMGC_DS10277,BMG_DS038199,Sudden Infant Death with Dysgenesis of the Testes Syndrome,UMLS ID:C1837371,,,,,sudden infant death-dysgenesis of the testes syndrome,MONDO:0012124,,MeSH ID:C563856,,,,OMIM ID:608800 +BMGC_DS10278,BMG_DS038200,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie",UMLS ID:C1837396,,,,,congenital disorder of glycosylation type 1E,MONDO:0012123,,,congenital disorder of glycosylation Ie,DOID:0080557,,OMIM ID:603503 | OMIM ID:608799 +BMGC_DS10279,BMG_DS038202,OTOSCLEROSIS 5,UMLS ID:C1837422,,,,,otosclerosis 5,MONDO:0012121,,,otosclerosis 5,DOID:0060924,,OMIM ID:608787 +BMGC_DS10280,BMG_DS038203,Pyruvate dehydrogenase phosphatase deficiency,UMLS ID:C1837429,Pyruvate dehydrogenase phosphatase deficiency (disorder) | Pyruvate dehydrogenase phosphatase deficiency,SNOMEDCT ID:1003847003,,,pyruvate dehydrogenase phosphatase deficiency,MONDO:0012120,,MeSH ID:C536258,,,,OMIM ID:608782 +BMGC_DS10281,BMG_DS038205,SPINOCEREBELLAR ATAXIA 8,UMLS ID:C1837454,,,,,spinocerebellar ataxia type 8,MONDO:0012116,,,spinocerebellar ataxia type 8,DOID:0050959,,OMIM ID:603680 | OMIM ID:608768 | OMIM ID:613289 +BMGC_DS10282,BMG_DS038206,,UMLS ID:C1837461,,,,,"scoliosis, isolated, susceptibility to, 3",MONDO:0012115,,,,,,OMIM ID:608765 +BMGC_DS10283,BMG_DS038208,,UMLS ID:C1837468,,,,,"epilepsy, idiopathic generalized, susceptibility to, 3",MONDO:0012113,,,,,,OMIM ID:608762 +BMGC_DS10284,BMG_DS038209,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8",UMLS ID:C1837471,,,,,hypertrophic cardiomyopathy 8,MONDO:0012111,,,hypertrophic cardiomyopathy 8,DOID:0110314,,OMIM ID:160790 | OMIM ID:608751 +BMGC_DS10285,BMG_DS038210,Insulin-Like Growth Factor I Deficiency,UMLS ID:C1837475,,,,,growth delay due to insulin-like growth factor type 1 deficiency,MONDO:0012110,,MeSH ID:C563867,,,,OMIM ID:608747 +BMGC_DS10286,BMG_DS038212,"Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",UMLS ID:C1837481,,,,,"spondyloepimetaphyseal dysplasia, matrilin-3 type",MONDO:0012108,,MeSH ID:C563869,,,,OMIM ID:608728 +BMGC_DS10287,BMG_DS038214,"Microcephaly, Primary Autosomal Recessive, 5",UMLS ID:C1837501,,,,,"microcephaly 5, primary, autosomal recessive",MONDO:0012106,,MeSH ID:C563871,,,,OMIM ID:608716 +BMGC_DS10288,BMG_DS038215,Spinocerebellar ataxia 25,UMLS ID:C1837518,,,,,spinocerebellar ataxia type 25,MONDO:0012103,,MeSH ID:C537202,spinocerebellar ataxia type 25,DOID:0050974,,OMIM ID:608703 +BMGC_DS10289,BMG_DS038219,AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency,UMLS ID:C1837530,,,,,AICA-ribosiduria,MONDO:0012099,,MeSH ID:C563876,,,,OMIM ID:608688 +BMGC_DS10290,BMG_DS038220,SPINOCEREBELLAR ATAXIA 20,UMLS ID:C1837541,,,,,spinocerebellar ataxia type 20,MONDO:0012098,,,spinocerebellar ataxia type 20,DOID:0050971,,OMIM ID:608687 +BMGC_DS10291,BMG_DS038221,"Spondylocostal Dysostosis 2, Autosomal Recessive",UMLS ID:C1837549,,,,,"spondylocostal dysostosis 2, autosomal recessive | autosomal recessive spondylocostal dysostosis",MONDO:0012097;MONDO:0010180,,MeSH ID:C535781,,,,OMIM ID:608681 +BMGC_DS10292,BMG_DS038222,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L",UMLS ID:C1837552,,,,,Charcot-Marie-Tooth disease axonal type 2L,MONDO:0012096,,,,,,OMIM ID:608014 | OMIM ID:608673 +BMGC_DS10293,BMG_DS038223,Robin Sequence with Distinctive Facial Appearance and Brachydactyly,UMLS ID:C1837564,,,,,intellectual disability-brachydactyly-Pierre Robin syndrome,MONDO:0012095,,MeSH ID:C563880,,,,OMIM ID:608670 +BMGC_DS10294,BMG_DS038226,"DEAFNESS, AUTOSOMAL RECESSIVE 32",UMLS ID:C1837608,,,,,autosomal recessive nonsyndromic hearing loss 32,MONDO:0012091,,,,,,OMIM ID:603504 | OMIM ID:608653 +BMGC_DS10295,BMG_DS038227,"Deafness, Autosomal Dominant 47",UMLS ID:C1837609,,,,,autosomal dominant nonsyndromic hearing loss 47,MONDO:0012090,,MeSH ID:C563885,,,,OMIM ID:608652 +BMGC_DS10296,BMG_DS038228,ICHTHYOSIS PREMATURITY SYNDROME,UMLS ID:C1837610,,,,,ichthyosis prematurity syndrome,MONDO:0012089,,,,,,OMIM ID:604194 | OMIM ID:608649 +BMGC_DS10297,BMG_DS038229,"Ciliary Dyskinesia, Primary, 5",UMLS ID:C1837615,,,,,primary ciliary dyskinesia 5,MONDO:0012088,,MeSH ID:C563886,,,,OMIM ID:608647 +BMGC_DS10298,BMG_DS038231,"Deafness, Autosomal Dominant 31",UMLS ID:C1837617,,,,,autosomal dominant nonsyndromic hearing loss 31,MONDO:0012086,,MeSH ID:C563888,,,,OMIM ID:608645 +BMGC_DS10299,BMG_DS038232,"CILIARY DYSKINESIA, PRIMARY, 3",UMLS ID:C1837618,,,,,primary ciliary dyskinesia 3,MONDO:0012085,,,,,,OMIM ID:608644 | OMIM ID:603335 +BMGC_DS10300,BMG_DS038233,"Deafness, Autosomal Dominant 28",UMLS ID:C1837640,,,,,autosomal dominant nonsyndromic hearing loss 28,MONDO:0012083,,MeSH ID:C563890,,,,OMIM ID:608641 +BMGC_DS10301,BMG_DS038234,"ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1",UMLS ID:C1837646,,,,,"asperger syndrome, susceptibility to, 1",MONDO:0012082,,,,,,OMIM ID:608638 +BMGC_DS10302,BMG_DS038235,"Spondyloepiphyseal dysplasia, Omani type",UMLS ID:C1837657,"Spondyloepiphyseal dysplasia, Omani type | Humero-spinal dysostosis | Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) | Autosomal recessive Larsen syndrome | Spondyloepiphyseal dysplasia with congenital joint dislocations",SNOMEDCT ID:702400006,,,spondyloepiphyseal dysplasia with congenital joint dislocations,MONDO:0007738,,MeSH ID:C535789,,,,OMIM ID:143095 +BMGC_DS10303,BMG_DS038236,Gross motor development delay,UMLS ID:C1837658,Gross motor development delay (disorder) | Gross motor development delay,SNOMEDCT ID:430099007,,,,,,,,,,OMIM ID:MTHU074460 +BMGC_DS10304,BMG_DS038237,"ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2",UMLS ID:C1837697,,,,,"asperger syndrome, susceptibility to, 2",MONDO:0012079,,,,,,OMIM ID:608631 +BMGC_DS10305,BMG_DS038238,JOUBERT SYNDROME 3,UMLS ID:C1837713,,,,,Joubert syndrome 3,MONDO:0012078,,,,,,OMIM ID:608629 | OMIM ID:608894 +BMGC_DS10306,BMG_DS038239,Amyotrophic Lateral Sclerosis 8,UMLS ID:C1837728,,,,,amyotrophic lateral sclerosis type 8,MONDO:0012077,,MeSH ID:C563895,,,,OMIM ID:608627 +BMGC_DS10307,BMG_DS038240,"Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia",UMLS ID:C1837730,,,,,"midface hypoplasia, obesity, developmental delay, and neonatal hypotonia",MONDO:0012076,,MeSH ID:C563896,,,,OMIM ID:608624 +BMGC_DS10308,BMG_DS038241,"Hypertension, Diastolic, Resistance to",UMLS ID:C1837739,,,,,,,,MeSH ID:C563897,,,, +BMGC_DS10309,BMG_DS038242,,UMLS ID:C1837750,,,,,oligodontia-cancer predisposition syndrome,MONDO:0012075,,,,,,OMIM ID:608615 +BMGC_DS10310,BMG_DS038243,MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY,UMLS ID:C1837756,,,,,mandibuloacral dysplasia with type B lipodystrophy,MONDO:0012074,,,mandibuloacral dysplasia type B lipodystrophy,DOID:0081129,,OMIM ID:608612 | OMIM ID:606480 +BMGC_DS10311,BMG_DS038245,"Charcot-Marie-Tooth disease, axonal, Type 2G",UMLS ID:C1837805,,,,,,,,MeSH ID:C539595,,,, +BMGC_DS10312,BMG_DS038248,,UMLS ID:C1837811,,,,,"asthma-related traits, susceptibility to, 2",MONDO:0012067,,,,,,OMIM ID:608584 +BMGC_DS10313,BMG_DS038249,"Atrial Fibrillation, Familial, 2",UMLS ID:C1837812,,,,,"atrial fibrillation, familial, 2",MONDO:0012167,,MeSH ID:C563903,,,,OMIM ID:608988 +BMGC_DS10314,BMG_DS038251,Burn-Mckeown syndrome,UMLS ID:C1837822,,,,,choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,MONDO:0012064,,MeSH ID:C537411,Burn-McKeown syndrome,DOID:0080695,,OMIM ID:608572 +BMGC_DS10315,BMG_DS038253,Ulnar-Fibular Ray Defect and Brachydactyly,UMLS ID:C1837830,,,,,ulnar/fibula ray defect-brachydactyly syndrome,MONDO:0012063,,MeSH ID:C563905,,,,OMIM ID:608571 +BMGC_DS10316,BMG_DS038254,"CARDIOMYOPATHY, DILATED, 1O",UMLS ID:C1837839,,,,,dilated cardiomyopathy 1O,MONDO:0012062,,,,,,OMIM ID:601439 | OMIM ID:608569 +BMGC_DS10317,BMG_DS038255,,UMLS ID:C1837845,,,,,sick sinus syndrome 1,MONDO:0024562,,,,,,OMIM ID:608567 +BMGC_DS10318,BMG_DS038256,"DEAFNESS, AUTOSOMAL RECESSIVE 35",UMLS ID:C1837857,,,,,autosomal recessive nonsyndromic hearing loss 35,MONDO:0012060,,,,,,OMIM ID:608565 | OMIM ID:602167 +BMGC_DS10319,BMG_DS038259,,UMLS ID:C1837872,,,,,"legionnaire disease, susceptibility to",MONDO:0012057,,,,,,OMIM ID:608556 +BMGC_DS10320,BMG_DS038260,Leber Congenital Amaurosis 9,UMLS ID:C1837873,,,,,Leber congenital amaurosis 9,MONDO:0012056,,MeSH ID:C536603,,,,OMIM ID:608553 +BMGC_DS10321,BMG_DS038261,Larsen-Like Syndrome,UMLS ID:C1837884,,,,,Larsen-like osseous dysplasia-short stature syndrome,MONDO:0012055,,MeSH ID:C563914,,,,OMIM ID:608545 +BMGC_DS10322,BMG_DS038262,SCHIZOPHRENIA 12,UMLS ID:C1837893,,,,,schizophrenia 12,MONDO:0012054,,,schizophrenia 12,DOID:0070088,,OMIM ID:608543 +BMGC_DS10323,BMG_DS038263,"Aneurysm, intracranial berry, 2",UMLS ID:C1837894,,,,,"aneurysm, intracranial berry, 2",MONDO:0012053,,MeSH ID:C536360,,,,OMIM ID:608542 +BMGC_DS10324,BMG_DS038264,"ERYTHROCYTOSIS, FAMILIAL, 2",UMLS ID:C1837915,,,,,Chuvash polycythemia,MONDO:0009892,,,,,,OMIM ID:608537 | OMIM ID:263400 +BMGC_DS10325,BMG_DS038268,Myopia 5,UMLS ID:C1837972,,,,,"myopia 5, autosomal dominant",MONDO:0012045,,MeSH ID:C563922,,,,OMIM ID:608474 +BMGC_DS10326,BMG_DS038269,"Corneal Dystrophy, Lattice Type IIIA",UMLS ID:C1837974,,,,,"corneal dystrophy, lattice type 3A",MONDO:0012044,,MeSH ID:C563923,,,,OMIM ID:608471 +BMGC_DS10327,BMG_DS038270,Knobloch Syndrome Type II,UMLS ID:C1838009,,,,,,,,MeSH ID:C548030,,,, +BMGC_DS10328,BMG_DS038273,,UMLS ID:C1838023,,,,,"intellectual disability, autosomal recessive 3",MONDO:0012037,,,,,,OMIM ID:608443 +BMGC_DS10329,BMG_DS038274,"Epilepsy, Nocturnal Frontal Lobe, Type 1",UMLS ID:C1838049,,,,,autosomal dominant nocturnal frontal lobe epilepsy 1,MONDO:0010899,,MeSH ID:C563930,,,,OMIM ID:600513 +BMGC_DS10330,BMG_DS038275,Autosomal Dominant Lateral Temporal Lobe Epilepsy,UMLS ID:C1838062,,,,,autosomal dominant epilepsy with auditory features,MONDO:0010898,,MeSH ID:C537297,,,, +BMGC_DS10331,BMG_DS038276,,UMLS ID:C1838069,,,,,schizophrenia 3,MONDO:0010897,,,,,,OMIM ID:600511 +BMGC_DS10332,BMG_DS038277,ABCD syndrome,UMLS ID:C1838099,,,,,ABCD syndrome,MONDO:0010895,,MeSH ID:C535334,ABCD syndrome,DOID:0050600,,OMIM ID:600501 +BMGC_DS10333,BMG_DS038278,,UMLS ID:C1838100,,,,,maturity-onset diabetes of the young type 3,MONDO:0010894,,,,,,OMIM ID:600496 +BMGC_DS10334,BMG_DS038279,,UMLS ID:C1838102,,,,,"malignant hyperthermia, susceptibility to, 4",MONDO:0010893,,,,,,OMIM ID:600467 +BMGC_DS10335,BMG_DS038280,MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA,UMLS ID:C1838103,,,,,"myopathy, lactic acidosis, and sideroblastic anemia",MONDO:0000863,,,"myopathy, lactic acidosis, and sideroblastic anemia 1",DOID:0111185,,OMIM ID:600462 +BMGC_DS10336,BMG_DS038283,"Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly",UMLS ID:C1838121,,,,,acrocardiofacial syndrome,MONDO:0010890,,MeSH ID:C563936,acrocardiofacial syndrome,DOID:0070419,,OMIM ID:600460 +BMGC_DS10337,BMG_DS038284,Arterial Dissection with Lentiginosis,UMLS ID:C1838122,,,,,arterial dissection-lentiginosis syndrome,MONDO:0010889,,MeSH ID:C563937,,,,OMIM ID:600459 +BMGC_DS10338,BMG_DS038285,"Hypertrichosis, anterior cervical",UMLS ID:C1838123,,,,,isolated anterior cervical hypertrichosis,MONDO:0010887,,MeSH ID:C538390,,,,OMIM ID:600457 +BMGC_DS10339,BMG_DS038286,Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas,UMLS ID:C1838141,,,,,angiokeratoma corporis diffusum with arteriovenous fistulas,MONDO:0010885,,MeSH ID:C563940,,,,OMIM ID:600419 +BMGC_DS10340,BMG_DS038288,"Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV",UMLS ID:C1838161,,,,,aphalangy-syndactyly-microcephaly syndrome,MONDO:0010882,,MeSH ID:C563942,,,,OMIM ID:600384 +BMGC_DS10341,BMG_DS038289,Mesomelia-synostoses syndrome,UMLS ID:C1838162,,,,,mesomelia-synostoses syndrome,MONDO:0010881,,MeSH ID:C537348,,,,OMIM ID:600383 +BMGC_DS10342,BMG_DS038290,,UMLS ID:C1838163,,,,,"telangiectasia, hereditary hemorrhagic, type 2",MONDO:0010880,,,,,,OMIM ID:600376 +BMGC_DS10343,BMG_DS038291,CODAS syndrome,UMLS ID:C1838180,Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) | Cerebro-oculo-dento-auriculo-skeletal syndrome | CODAS syndrome | CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome,SNOMEDCT ID:717772000,,,CODAS syndrome,MONDO:0010879,,MeSH ID:C536434,CODAS syndrome,DOID:0111274,,OMIM ID:600373 +BMGC_DS10344,BMG_DS038292,,UMLS ID:C1838190,,,,,,,,,cone-rod dystrophy 14,DOID:0080314,, +BMGC_DS10345,BMG_DS038293,"Spastic paraplegia 6, autosomal dominant",UMLS ID:C1838192,,,,,hereditary spastic paraplegia 6,MONDO:0010878,,MeSH ID:C536866,,,,OMIM ID:600363 +BMGC_DS10346,BMG_DS038294,Aplasia cutis congenita of limbs recessive,UMLS ID:C1838206,,,,,recessive aplasia cutis congenita of limbs,MONDO:0010876,,MeSH ID:C536840,,,,OMIM ID:600360 +BMGC_DS10347,BMG_DS038295,"Pachydermodactyly, Familial",UMLS ID:C1838218,,,,,"pachydermodactyly, familial",MONDO:0010875,,MeSH ID:C563947,,,,OMIM ID:600356 +BMGC_DS10348,BMG_DS038296,"SPINAL MUSCULAR ATROPHY, TYPE IV",UMLS ID:C1838230,,,,,"spinal muscular atrophy, type IV",MONDO:0010056,,,adult spinal muscular atrophy,DOID:0050529,,OMIM ID:271150 | OMIM ID:600354 +BMGC_DS10349,BMG_DS038298,Band Heterotopia of Brain,UMLS ID:C1838239,,,,,,,,MeSH ID:C563950,,,, +BMGC_DS10350,BMG_DS038300,Succinic Acidemia,UMLS ID:C1838243,,,,,succinic acidemia,MONDO:0010871,,MeSH ID:C563952,,,,OMIM ID:600335 +BMGC_DS10351,BMG_DS038301,"TIBIAL MUSCULAR DYSTROPHY, TARDIVE",UMLS ID:C1838244,,,,,tibial muscular dystrophy,MONDO:0010870,,,tibial muscular dystrophy,DOID:0111078,,OMIM ID:600334 | OMIM ID:188840 +BMGC_DS10352,BMG_DS038303,RIPPLING MUSCLE DISEASE 1,UMLS ID:C1838254,,,,,rippling muscle disease 1,MONDO:0010868,,,,,,OMIM ID:600332 +BMGC_DS10353,BMG_DS038304,PARC syndrome,UMLS ID:C1838256,"PARC syndrome | Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) | Poikiloderma, alopecia, retrognathism, cleft palate syndrome | PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome",SNOMEDCT ID:771186004,,,PARC syndrome,MONDO:0010867,,MeSH ID:C537174,,,,OMIM ID:600331 +BMGC_DS10354,BMG_DS038306,Osteopetrosis and infantile neuroaxonal dystrophy,UMLS ID:C1838258,,,,,infantile osteopetrosis with neuroaxonal dysplasia,MONDO:0010866,,MeSH ID:C536055,,,,OMIM ID:600329 +BMGC_DS10355,BMG_DS038308,"DIABETES MELLITUS, INSULIN-DEPENDENT, 5",UMLS ID:C1838260,,,,,type 1 diabetes mellitus 5,MONDO:0010863,,,,,,OMIM ID:600320 +BMGC_DS10356,BMG_DS038311,"Deafness, Autosomal Recessive 3",UMLS ID:C1838263,,,,,autosomal recessive nonsyndromic hearing loss 3,MONDO:0010860,,MeSH ID:C563961,,,,OMIM ID:600316 +BMGC_DS10357,BMG_DS038312,"Epiphyseal dysplasia, multiple, 1",UMLS ID:C1838280,,,,,multiple epiphyseal dysplasia type 1,MONDO:0007561,,MeSH ID:C535501,multiple epiphyseal dysplasia 1,DOID:0070303,,OMIM ID:132400 +BMGC_DS10358,BMG_DS038317,"Polycystic kidneys, severe infantile with tuberous sclerosis",UMLS ID:C1838327,,,,,autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,MONDO:0010856,,MeSH ID:C536328,,,,OMIM ID:600273 +BMGC_DS10359,BMG_DS038318,Lopes Gorlin syndrome,UMLS ID:C1838328,Short tarsus with absence of lower eyelashes syndrome (disorder) | Short tarsus with absence of lower eyelashes syndrome | Lopes Gorlin syndrome,SNOMEDCT ID:721075001,,,short tarsus-absence of lower eyelashes syndrome,MONDO:0010855,,MeSH ID:C537036,,,,OMIM ID:600269 +BMGC_DS10360,BMG_DS038319,APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS,UMLS ID:C1838329,,,,,Toriello-Lacassie-Droste syndrome,MONDO:0010854,,,oculoectodermal syndrome,DOID:0111705,,OMIM ID:600268 +BMGC_DS10361,BMG_DS038320,"HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO",UMLS ID:C1838332,,,,,"Helicobacter pylori infection, susceptibility to",MONDO:0010853,,,,,,OMIM ID:107470 | OMIM ID:600263 +BMGC_DS10362,BMG_DS038321,"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",UMLS ID:C1838333,,,,,Lynch syndrome 4,MONDO:0013699,,,hereditary nonpolyposis colorectal cancer type 4,DOID:0070275,,OMIM ID:614337 +BMGC_DS10363,BMG_DS038322,Bor-Duane hydrocephalus contiguous gene syndrome,UMLS ID:C1838346,,,,,chromosome 8Q12.1-q21.2 deletion syndrome,MONDO:0010852,,MeSH ID:C536574,,,,OMIM ID:600257 +BMGC_DS10364,BMG_DS038323,"Hydrocephalus, Autosomal Dominant",UMLS ID:C1838347,,,,,craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,MONDO:0007401,,MeSH ID:C563973,,,,OMIM ID:123155 +BMGC_DS10365,BMG_DS038324,Oculomaxillofacial dysostosis,UMLS ID:C1838348,Oculomaxillofacial dysostosis (disorder) | Richieri Costa Gorlin syndrome | Oculomaxillofacial dysostosis,SNOMEDCT ID:763830009,,,oculomaxillofacial dysostosis,MONDO:0015824,,MeSH ID:C537736,,,, +BMGC_DS10366,BMG_DS038325,"Diffuse palmoplantar keratoderma, Bothnian type",UMLS ID:C1838359,,,,,"palmoplantar keratoderma, Bothnian type",MONDO:0010849,,MeSH ID:C536173,Bothnian type palmoplantar keratoderma,DOID:0111707,,OMIM ID:600231 +BMGC_DS10367,BMG_DS038326,"Exostoses, Multiple, Type III",UMLS ID:C1838420,,,,,"exostoses, multiple, type III",MONDO:0010846,,MeSH ID:C563975,,,,OMIM ID:600209 +BMGC_DS10368,BMG_DS038327,"Epiphyseal dysplasia, multiple, 2",UMLS ID:C1838429,,,,,"epiphyseal dysplasia, multiple, 2",MONDO:0010844,,MeSH ID:C535502,,,,OMIM ID:600204 +BMGC_DS10369,BMG_DS038328,,UMLS ID:C1838436,,,,,"dyslexia, susceptibility to, 2",MONDO:0010843,,,,,,OMIM ID:600202 +BMGC_DS10370,BMG_DS038329,,UMLS ID:C1838437,,,,,multiple cutaneous and mucosal venous malformations,MONDO:0010842,,,multiple cutaneous and mucosal venous malformations,DOID:0050792,,OMIM ID:600195 +BMGC_DS10371,BMG_DS038330,ICHTHYOSIS EXFOLIATIVA,UMLS ID:C1838440,,,,,exfoliative ichthyosis,MONDO:0017339,,,,,,OMIM ID:146800 | OMIM ID:600194 +BMGC_DS10372,BMG_DS038331,Waardenburg syndrome type 2B,UMLS ID:C1838447,,,,,Waardenburg syndrome type 2B,MONDO:0010841,,MeSH ID:C536465,Waardenburg syndrome type 2B,DOID:0110947,,OMIM ID:600193 +BMGC_DS10373,BMG_DS038332,"FANCONI ANEMIA, COMPLEMENTATION GROUP D1",UMLS ID:C1838457,,,,,Fanconi anemia complementation group D1,MONDO:0011584,,,Fanconi anemia complementation group D1,DOID:0111089,,OMIM ID:600185 | OMIM ID:605724 +BMGC_DS10374,BMG_DS038333,Kuzniecky syndrome,UMLS ID:C1838491,"Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Pachygyria, intellectual disability, epilepsy syndrome | Kuzniecky syndrome",SNOMEDCT ID:763861000,,,pachygyria-intellectual disability-epilepsy syndrome,MONDO:0010840,,MeSH ID:C538091,,,,OMIM ID:600176 +BMGC_DS10375,BMG_DS038334,"Spinal Muscular Atrophy, Distal, Congenital Nonprogressive",UMLS ID:C1838492,,,,,"neuronopathy, distal hereditary motor, autosomal dominant 8",MONDO:0010839,,MeSH ID:C563981,,,,OMIM ID:600175 +BMGC_DS10376,BMG_DS038335,"Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia",UMLS ID:C1838501,,,,,"hyperparathyroidism, primary, caused by water clear cell hyperplasia",MONDO:0044350,,MeSH ID:C563982,,,,OMIM ID:600166 +BMGC_DS10377,BMG_DS038336,NANOPHTHALMOS 1,UMLS ID:C1838502,,,,,nanophthalmos 1,MONDO:0010836,,,,,,OMIM ID:600165 +BMGC_DS10378,BMG_DS038337,"CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",UMLS ID:C1838539,,,,,,,,,atrial standstill 1,DOID:0080662,,OMIM ID:108770 +BMGC_DS10379,BMG_DS038338,MELANOMA-PANCREATIC CANCER SYNDROME,UMLS ID:C1838547,,,,,melanoma-pancreatic cancer syndrome,MONDO:0011713,,,,,,OMIM ID:606719 | OMIM ID:600160 +BMGC_DS10380,BMG_DS038340,,UMLS ID:C1838564,,,,,"Hirschsprung disease, susceptibility to, 2",MONDO:0010833,,,,,,OMIM ID:600155 +BMGC_DS10381,BMG_DS038341,Sacral defect and anterior sacral meningocele,UMLS ID:C1838568,,,,,,,,MeSH ID:C537221,,,, +BMGC_DS10382,BMG_DS038342,"CEROID LIPOFUSCINOSIS, NEURONAL, 8",UMLS ID:C1838570,,,,,neuronal ceroid lipofuscinosis 8,MONDO:0010830,,,,,,OMIM ID:600143 | OMIM ID:607837 +BMGC_DS10383,BMG_DS038343,"Ceroid Lipofuscinosis, Neuronal, 7",UMLS ID:C1838571,,,,,neuronal ceroid lipofuscinosis 7,MONDO:0012588,,MeSH ID:C563989,,,,OMIM ID:610951 +BMGC_DS10384,BMG_DS038344,Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy,UMLS ID:C1838577,,,,,CARASIL syndrome,MONDO:0010829,,MeSH ID:C563990,,,,OMIM ID:600142 +BMGC_DS10385,BMG_DS038345,Retinitis Pigmentosa 11,UMLS ID:C1838601,,,,,retinitis pigmentosa 11,MONDO:0010828,,MeSH ID:C563991,retinitis pigmentosa 11,DOID:0110408,,OMIM ID:600138 +BMGC_DS10386,BMG_DS038346,Retinitis Pigmentosa 14,UMLS ID:C1838603,,,,,retinitis pigmentosa 14,MONDO:0010827,,MeSH ID:C563992,retinitis pigmentosa 14,DOID:0110381,,OMIM ID:600132 +BMGC_DS10387,BMG_DS038347,,UMLS ID:C1838604,,,,,"epilepsy, childhood absence, susceptibility to, 1",MONDO:0020759,,,,,,OMIM ID:600131 +BMGC_DS10388,BMG_DS038351,"Rhizomelic chondrodysplasia punctata, type 3",UMLS ID:C1838612,,,,,rhizomelic chondrodysplasia punctata type 3,MONDO:0010823,,MeSH ID:C537608,rhizomelic chondrodysplasia punctata type 3,DOID:0110853,,OMIM ID:600121 +BMGC_DS10389,BMG_DS038352,WARBURG MICRO SYNDROME 1,UMLS ID:C1838625,,,,,Warburg micro syndrome 1,MONDO:0010822,,,Warburg micro syndrome,DOID:0060237,,OMIM ID:602536 | OMIM ID:600118 +BMGC_DS10390,BMG_DS038353,"Dysphasia, Familial Developmental",UMLS ID:C1838630,,,,,familial developmental dysphasia,MONDO:0010821,,MeSH ID:C563997,,,,OMIM ID:600117 +BMGC_DS10391,BMG_DS038354,Stargardt disease 3,UMLS ID:C1838644,,,,,Stargardt disease 3,MONDO:0010819,,MeSH ID:C535805,,,,OMIM ID:600110 +BMGC_DS10392,BMG_DS038355,Retinitis Pigmentosa 12,UMLS ID:C1838647,,,,,retinitis pigmentosa 12,MONDO:0010818,,MeSH ID:C563999,retinitis pigmentosa 12,DOID:0110358,,OMIM ID:600105 +BMGC_DS10393,BMG_DS038356,SPLIT-HAND/FOOT MALFORMATION 3,UMLS ID:C1838652,,,,,split hand-foot malformation 3,MONDO:0009525,,,,,,OMIM ID:246560 +BMGC_DS10394,BMG_DS038357,Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies,UMLS ID:C1838653,,,,,spondyloepiphyseal dysplasia tarda with characteristic facies,MONDO:0010815,,MeSH ID:C564003,spondyloepiphyseal dysplasia tarda with characteristic facies,DOID:0112289,,OMIM ID:600093 +BMGC_DS10395,BMG_DS038358,Nivelon Nivelon Mabille syndrome,UMLS ID:C1838654,Chondrodysplasia with disorder of sex development syndrome (disorder) | Chondrodysplasia with disorder of sex development syndrome | Chondrodysplasia pseudohermaphroditism syndrome | Nivelon Nivelon Mabille syndrome,SNOMEDCT ID:720851007,,,chondrodysplasia-pseudohermaphroditism syndrome,MONDO:0010814,,MeSH ID:C536123,chondrodysplasia-pseudohermaphroditism syndrome,DOID:0060644,,OMIM ID:600092 +BMGC_DS10396,BMG_DS038359,Pancreatic beta cell agenesis with neonatal diabetes mellitus,UMLS ID:C1838655,,,,,pancreatic beta cell agenesis with neonatal diabetes mellitus,MONDO:0010813,,MeSH ID:C538111,,,,OMIM ID:600089 +BMGC_DS10397,BMG_DS038360,"Macrocytosis, Familial",UMLS ID:C1838656,,,,,"macrocytosis, familial",MONDO:0010812,,MeSH ID:C564004,,,,OMIM ID:600084 +BMGC_DS10398,BMG_DS038361,"Vitamin D Hydroxylation-Deficient Rickets, Type 1B",UMLS ID:C1838657,,,,,"vitamin D hydroxylation-deficient rickets, type 1B",MONDO:0010810,,MeSH ID:C564005,,,,OMIM ID:600081 +BMGC_DS10399,BMG_DS038362,,UMLS ID:C1838670,,,,,familial chronic myelocytic leukemia-like syndrome,MONDO:0010809,,,,,,OMIM ID:600080 +BMGC_DS10400,BMG_DS038363,"DEAFNESS, AUTOSOMAL RECESSIVE 2",UMLS ID:C1838701,,,,,autosomal recessive nonsyndromic hearing loss 2,MONDO:0010807,,,,,,OMIM ID:276903 | OMIM ID:600060 +BMGC_DS10401,BMG_DS038364,Retinitis Pigmentosa 13,UMLS ID:C1838702,,,,,retinitis pigmentosa 13,MONDO:0010806,,MeSH ID:C564008,retinitis pigmentosa 13,DOID:0110403,,OMIM ID:600059 +BMGC_DS10402,BMG_DS038365,Bladder Exstrophy and Epispadias Complex,UMLS ID:C1838703,,,,,bladder exstrophy-epispadias-cloacal extrophy complex,MONDO:0700039,,MeSH ID:C564009,,,,OMIM ID:600057 +BMGC_DS10403,BMG_DS038366,Eiken Skeletal Dysplasia,UMLS ID:C1838779,,,,,Eiken syndrome,MONDO:0010803,,MeSH ID:C564010,Eiken syndrome,DOID:0111732,,OMIM ID:600002 +BMGC_DS10404,BMG_DS038368,"Wolfram Syndrome, Mitochondrial Form",UMLS ID:C1838782,,,,,"Wolfram syndrome, mitochondrial form",MONDO:0010800,,MeSH ID:C564012,"Wolfram syndrome, mitochondrial form",DOID:0080583,,OMIM ID:598500 +BMGC_DS10405,BMG_DS038369,"DEAFNESS, AMINOGLYCOSIDE-INDUCED",UMLS ID:C1838854,,,,,"deafness, aminoglycoside-induced",MONDO:0010799,,,aminoglycoside-induced deafness,DOID:0111734,,OMIM ID:516030 | OMIM ID:580000 | OMIM ID:561000 | OMIM ID:590080 +BMGC_DS10406,BMG_DS038370,"Parkinson Disease, Mitochondrial",UMLS ID:C1838867,,,,,"Parkinson disease, mitochondrial",MONDO:0010796,,MeSH ID:C564015,,,,OMIM ID:556500 +BMGC_DS10407,BMG_DS038372,"MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",UMLS ID:C1838876,,,,,lethal infantile mitochondrial myopathy,MONDO:0010792,,,,,,OMIM ID:551000 +BMGC_DS10408,BMG_DS038373,,UMLS ID:C1838877,,,,,"myoglobinuria, recurrent",MONDO:0010791,,,,,,OMIM ID:550500 +BMGC_DS10409,BMG_DS038376,"ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",UMLS ID:C1838916,,,,,"ataxia and polyneuropathy, adult-onset",MONDO:0010781,,,adult-onset ataxia and polyneuropathy,DOID:0111750,,OMIM ID:500010 | OMIM ID:516060 +BMGC_DS10410,BMG_DS038377,LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,UMLS ID:C1838951,,,,,,,,,,,,OMIM ID:516005 | OMIM ID:516006 | OMIM ID:516001 +BMGC_DS10411,BMG_DS038378,MITOCHONDRIAL COMPLEX I DEFICIENCY,UMLS ID:C1838979,,,,,mitochondrial complex I deficiency,MONDO:0100133,,,mitochondrial complex I deficiency | nuclear type mitochondrial complex I deficiency 1 | mitochondrial complex I deficiency,DOID:0060536;DOID:0060536;DOID:0112074,,OMIM ID:516003 | OMIM ID:516001 | OMIM ID:252010 +BMGC_DS10412,BMG_DS038379,,UMLS ID:C1838989,,,,,chloramphenicol toxicity,MONDO:0010784,,,,,,OMIM ID:515000 +BMGC_DS10413,BMG_DS038380,,UMLS ID:C1838990,,,,,"Alzheimer disease, susceptibility to, mitochondrial",MONDO:0100295,,,,,,OMIM ID:502500 +BMGC_DS10414,BMG_DS038384,"Striatonigral Degeneration, Infantile, Mitochondrial",UMLS ID:C1839022,,,,,"striatonigral degeneration, infantile, mitochondrial",MONDO:0010774,,MeSH ID:C564025,,,,OMIM ID:500003 +BMGC_DS10415,BMG_DS038385,Mitochondrial Myopathy with Diabetes,UMLS ID:C1839028,,,,,mitochondrial myopathy with diabetes,MONDO:0010773,,MeSH ID:C564026,,,,OMIM ID:500002 +BMGC_DS10416,BMG_DS038386,LEBER OPTIC ATROPHY AND DYSTONIA,UMLS ID:C1839040,,,,,Leber optic atrophy and dystonia,MONDO:0010772,,,Leber hereditary optic neuropathy and dystonia,DOID:0111755,,OMIM ID:516000 | OMIM ID:500001 | OMIM ID:516002 | OMIM ID:516003 | OMIM ID:516006 +BMGC_DS10417,BMG_DS038388,"Hairy Ears, Y-Linked",UMLS ID:C1839070,,,,,"hairy ears, Y-linked",MONDO:0010769,,MeSH ID:C564029,,,,OMIM ID:425500 +BMGC_DS10418,BMG_DS038389,"Spermatogenic Failure, Nonobstructive, Y-Linked",UMLS ID:C1839071,,,,,"spermatogenic failure, Y-linked, 2",MONDO:0010767,,MeSH ID:C564030,Y-linked spermatogenic failure 2,DOID:0070187,,OMIM ID:415000 +BMGC_DS10419,BMG_DS038394,"Retinitis Pigmentosa, Y-Linked",UMLS ID:C1839079,,,,,retinitis pigmentosa Y-linked,MONDO:0010761,,MeSH ID:C564035,,,,OMIM ID:400004 +BMGC_DS10420,BMG_DS038396,,UMLS ID:C1839082,,,,,"intellectual disability, X-linked 89",MONDO:0010450,,,,,,OMIM ID:300848 +BMGC_DS10421,BMG_DS038399,"Von Willebrand Disease, X-Linked Form",UMLS ID:C1839113,,,,,"Von Willebrand disease, X-linked form",MONDO:0010756,,MeSH ID:C564041,,,,OMIM ID:314560 +BMGC_DS10422,BMG_DS038400,"Vesicoureteral Reflux, X-Linked",UMLS ID:C1839114,,,,,"vesicoureteral reflux, X-linked",MONDO:0010755,,MeSH ID:C564042,,,,OMIM ID:314550 +BMGC_DS10423,BMG_DS038401,UNIQUE GREEN PHENOMENON,UMLS ID:C1839116,,,,,unique green phenomenon,MONDO:0010751,,,,,,OMIM ID:314380 +BMGC_DS10424,BMG_DS038403,Say Meyer syndrome,UMLS ID:C1839125,"Trigonocephaly, short stature, developmental delay syndrome (disorder) | Trigonocephaly, short stature, developmental delay syndrome | Say Meyer syndrome",SNOMEDCT ID:733066002,,,trigonocephaly-short stature-developmental delay syndrome,MONDO:0010749,,MeSH ID:C536620,,,,OMIM ID:314320 +BMGC_DS10425,BMG_DS038404,Torticollis keloids cryptorchidism renal dysplasia,UMLS ID:C1839129,,,,,torticollis-keloids-cryptorchidism-renal dysplasia syndrome,MONDO:0010748,,MeSH ID:C536970,,,,OMIM ID:314300 +BMGC_DS10426,BMG_DS038405,"Dystonia 3, Torsion, X-Linked",UMLS ID:C1839130,,,,,X-linked dystonia-parkinsonism,MONDO:0010747,,MeSH ID:C564048,,,,OMIM ID:314250 +BMGC_DS10427,BMG_DS038406,Thyroxine-Binding Globulin Deficiency,UMLS ID:C1839141,,,,,,,,MeSH ID:C564049,,,, +BMGC_DS10428,BMG_DS038407,"Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",UMLS ID:C1839161,,,,,beta-thalassemia-X-linked thrombocytopenia syndrome,MONDO:0010745,,MeSH ID:C564050,X-linked thrombocytopenia with beta-thalassemia,DOID:0111767,,OMIM ID:314050 +BMGC_DS10429,BMG_DS038408,Thrombocytopenia with Elevated Serum Iga and Renal Disease,UMLS ID:C1839162,,,,,thrombocytopenia with elevated serum IgA and renal disease,MONDO:0010744,,MeSH ID:C564051,,,,OMIM ID:314000 +BMGC_DS10430,BMG_DS038409,Thrombocytopenia 1,UMLS ID:C1839163,,,,,thrombocytopenia 1,MONDO:0010743,,MeSH ID:C564052,,,,OMIM ID:313900 +BMGC_DS10431,BMG_DS038412,"Taurodontism, microdontia, and dens invaginatus",UMLS ID:C1839235,,,,,"taurodontism, microdontia, and dens invaginatus",MONDO:0010740,,MeSH ID:C536947,,,,OMIM ID:313490 +BMGC_DS10432,BMG_DS038414,SPLIT-HAND/FOOT MALFORMATION 2,UMLS ID:C1839258,,,,,split hand-foot malformation 2,MONDO:0010736,,,,,,OMIM ID:313350 +BMGC_DS10433,BMG_DS038415,"Bulbo-Spinal Atrophy, X-Linked",UMLS ID:C1839259,,,,,Kennedy disease,MONDO:0010735,"Bulbo-Spinal Atrophy, X-Linked",MeSH ID:D055534,Kennedy's disease,DOID:0060161,,OMIM ID:313200 +BMGC_DS10434,BMG_DS038416,,UMLS ID:C1839262,,,,,"spatial visualization, aptitude for",MONDO:0010734,,,,,,OMIM ID:313000 +BMGC_DS10435,BMG_DS038417,"Spastic paraplegia 2, X-linked",UMLS ID:C1839264,,,,,hereditary spastic paraplegia 2,MONDO:0010733,,MeSH ID:C536857,,,,OMIM ID:312920 +BMGC_DS10436,BMG_DS038419,Schimke X-linked mental retardation syndrome,UMLS ID:C1839320,,,,,"X-linked intellectual disability, Schimke type",MONDO:0010729,,MeSH ID:C536630,,,,OMIM ID:312840 +BMGC_DS10437,BMG_DS038420,SCARF syndrome,UMLS ID:C1839321,"SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome | SCARF syndrome | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder)",SNOMEDCT ID:734173003,,,SCARF syndrome,MONDO:0010728,,MeSH ID:C536625,,,,OMIM ID:312830 +BMGC_DS10438,BMG_DS038422,Retinitis Pigmentosa 6,UMLS ID:C1839368,,,,,retinitis pigmentosa 6,MONDO:0000910,,MeSH ID:C564065,retinitis pigmentosa 6,DOID:0110413,,OMIM ID:312612 +BMGC_DS10439,BMG_DS038423,Radiation Sensitivity of Natural Killer Activity,UMLS ID:C1839408,,,,,radiation sensitivity of natural killer activity,MONDO:0010719,,MeSH ID:C564066,,,,OMIM ID:312210 +BMGC_DS10440,BMG_DS038424,Radius absent anogenital anomalies,UMLS ID:C1839410,,,,,absent radius-anogenital anomalies syndrome,MONDO:0010718,,MeSH ID:C535281,,,,OMIM ID:312190 +BMGC_DS10441,BMG_DS038425,Pyruvate Dehydrogenase E1 Alpha Deficiency,UMLS ID:C1839413,,,,,pyruvate dehydrogenase E1-alpha deficiency,MONDO:0010717,,MeSH ID:C564071,,,,OMIM ID:312170 +BMGC_DS10442,BMG_DS038426,Chronic lactic acidosis,UMLS ID:C1839437,,,,,,,,,,,ICD10 ID:E87.22, +BMGC_DS10443,BMG_DS038427,"Multiple Pterygium Syndrome, X-Linked",UMLS ID:C1839440,,,,,X-linked lethal multiple pterygium syndrome,MONDO:0010716,,MeSH ID:C564072,,,,OMIM ID:312150 +BMGC_DS10444,BMG_DS038428,"PROPERDIN DEFICIENCY, X-LINKED",UMLS ID:C1839454,,,,,"properdin deficiency, X-linked",MONDO:0010713,,,X-linked properdin deficiency,DOID:0111768,,OMIM ID:312060 +BMGC_DS10445,BMG_DS038429,"Properdin Deficiency, Type II",UMLS ID:C1839455,,,,,,,,MeSH ID:C564075,,,, +BMGC_DS10446,BMG_DS038430,"Properdin Deficiency, Type III",UMLS ID:C1839456,,,,,,,,MeSH ID:C564076,,,, +BMGC_DS10447,BMG_DS038431,TARP syndrome,UMLS ID:C1839463,"Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) | TARP syndrome | Pierre Robin sequence, congenital heart defect, talipes syndrome | Pierre Robin syndrome, congenital heart defect, talipes syndrome | TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome",SNOMEDCT ID:725911008,,,TARP syndrome,MONDO:0010711,,MeSH ID:C536942,TARP syndrome,DOID:0111780,,OMIM ID:311900 +BMGC_DS10448,BMG_DS038434,Jensen syndrome,UMLS ID:C1839564,,,,,obsolete Jensen syndrome,MONDO:0000501,,MeSH ID:C537568,,,, +BMGC_DS10449,BMG_DS038435,Optic Atrophy Spastic Paraplegia Syndrome,UMLS ID:C1839565,,,,,optic atrophy--spastic paraplegia syndrome,MONDO:0010700,,MeSH ID:C564084,,,,OMIM ID:311100 +BMGC_DS10450,BMG_DS038436,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",UMLS ID:C1839566,,,,,Charcot-Marie-Tooth disease X-linked recessive 5,MONDO:0010699,,,,,,OMIM ID:311070 | OMIM ID:311850 +BMGC_DS10451,BMG_DS038437,Early-onset X-linked optic atrophy,UMLS ID:C1839576,Early-onset X-linked optic atrophy (disorder) | Early-onset X-linked optic atrophy | Non-Leber type optic atrophy with early-onset | Optic atrophy type 2,SNOMEDCT ID:721200000,,,optic atrophy 2,MONDO:0010698,,,,,,OMIM ID:311050 +BMGC_DS10452,BMG_DS038438,"Ophthalmoplegia, External, and Myopia",UMLS ID:C1839577,,,,,"ophthalmoplegia, external, and myopia",MONDO:0010697,,MeSH ID:C564087,,,,OMIM ID:311000 +BMGC_DS10453,BMG_DS038440,"Nystagmus, Myoclonic",UMLS ID:C1839579,,,,,"nystagmus, myoclonic",MONDO:0010694,,MeSH ID:C564088,,,,OMIM ID:310800 +BMGC_DS10454,BMG_DS038441,"Nystagmus 1, congenital, X- linked",UMLS ID:C1839580,,,,,"nystagmus 1, congenital, X-linked",MONDO:0010693,,MeSH ID:C537853,,,,OMIM ID:310700 +BMGC_DS10455,BMG_DS038443,"Neuropathy, Hereditary Sensory, X-Linked",UMLS ID:C1839602,,,,,hereditary sensory neuropathy X-linked,MONDO:0010688,,MeSH ID:C564090,,,,OMIM ID:310470 +BMGC_DS10456,BMG_DS038445,"MYOPIA 1, X-LINKED",UMLS ID:C1839612,,,,,"myopia 1, X-linked",MONDO:0010685,,,,,,OMIM ID:310460 +BMGC_DS10457,BMG_DS038446,X-linked myopathy with excessive autophagy,UMLS ID:C1839615,X-linked myopathy with excessive autophagy (disorder) | X-linked myopathy with excessive autophagy | Vacuolar myopathy,SNOMEDCT ID:719815005,,,X-linked myopathy with excessive autophagy,MONDO:0010684,,,,,,OMIM ID:310440 +BMGC_DS10458,BMG_DS038447,MYELOLYMPHATIC INSUFFICIENCY,UMLS ID:C1839650,,,,,myelolymphatic insufficiency,MONDO:0010681,,,,,,OMIM ID:310350 +BMGC_DS10459,BMG_DS038450,"Muscular Dystrophy, Hemizygous Lethal Type",UMLS ID:C1839671,,,,,"muscular dystrophy, Hemizygous lethal type",MONDO:0010676,,MeSH ID:C564097,,,,OMIM ID:309950 +BMGC_DS10460,BMG_DS038451,"Modifier, X-Linked, for Neurofunctional Defects",UMLS ID:C1839708,,,,,"modifier, X-linked, for Neurofunctional defects",MONDO:0010673,,MeSH ID:C564098,,,,OMIM ID:309840 +BMGC_DS10461,BMG_DS038454,METACARPAL 4-5 FUSION,UMLS ID:C1839728,,,,,syndactyly type 8,MONDO:0010669,,,syndactyly type 8,DOID:0111813,,OMIM ID:300827 | OMIM ID:309630 +BMGC_DS10462,BMG_DS038455,Skeletal dysplasia with intellectual disability syndrome,UMLS ID:C1839729,Skeletal dysplasia with intellectual disability syndrome (disorder) | Skeletal dysplasia with intellectual disability syndrome | Christian syndrome,SNOMEDCT ID:722478008,,,skeletal dysplasia-intellectual disability syndrome,MONDO:0010668,,,,,,OMIM ID:309620 +BMGC_DS10463,BMG_DS038456,Prieto syndrome,UMLS ID:C1839730,,,,,Prieto syndrome,MONDO:0010667,,MeSH ID:C535274,,,,OMIM ID:309610 +BMGC_DS10464,BMG_DS038457,,UMLS ID:C1839735,,,,,,,,,Wieacker-Wolff syndrome,DOID:0060815,, +BMGC_DS10465,BMG_DS038458,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE",UMLS ID:C1839736,,,,,Wilson-Turner syndrome,MONDO:0010665,,,Wilson-Turner syndrome,DOID:0060814,,OMIM ID:300964 | OMIM ID:309585 +BMGC_DS10466,BMG_DS038459,FRAGILE X TREMOR/ATAXIA SYNDROME,UMLS ID:C1839780,,,,,fragile X-associated tremor/ataxia syndrome,MONDO:0010382,,,fragile X-associated tremor/ataxia syndrome,DOID:0050879,,OMIM ID:300623 | OMIM ID:309550 +BMGC_DS10467,BMG_DS038460,,UMLS ID:C1839792,,,,,syndromic X-linked intellectual disability 12,MONDO:0010658,,,,,,OMIM ID:309545 +BMGC_DS10468,BMG_DS038461,Noncompaction cardiomyopathy,UMLS ID:C1839832,,,,,,,,,,,,OMIM ID:MTHU025300 +BMGC_DS10469,BMG_DS038462,,UMLS ID:C1839839,,,,,major affective disorder 2,MONDO:0010648,,,,,,OMIM ID:309200 +BMGC_DS10470,BMG_DS038463,"Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase",UMLS ID:C1839840,,,,,"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",MONDO:0013664,,MeSH ID:C564109,,,,OMIM ID:614279 +BMGC_DS10471,BMG_DS038464,"SPERMATOGENIC FAILURE, X-LINKED, 2",UMLS ID:C1839841,,,,,"spermatogenic failure, X-linked, 2",MONDO:0010647,,,X-linked spermatogenic failure 2,DOID:0070185,,OMIM ID:309120 | OMIM ID:300311 +BMGC_DS10472,BMG_DS038465,"Macular Dystrophy, X-Linked",UMLS ID:C1839842,,,,,"macular dystrophy, X-linked",MONDO:0010646,,MeSH ID:C564110,,,,OMIM ID:309100 +BMGC_DS10473,BMG_DS038466,Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis,UMLS ID:C1839874,,,,,"proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis",MONDO:0010644,,MeSH ID:C545036,,,,OMIM ID:308990 +BMGC_DS10474,BMG_DS038467,,UMLS ID:C1839883,,,,,Lesch-Nyhan phenotype with normal HGPRT,MONDO:0010642,,,,,,OMIM ID:308950 +BMGC_DS10475,BMG_DS038468,"Leiomyomatosis, esophageal and vulval, with nephropathy",UMLS ID:C1839884,,,,,X-linked diffuse leiomyomatosis-Alport syndrome,MONDO:0010641,,MeSH ID:C537113,,,,OMIM ID:308940 +BMGC_DS10476,BMG_DS038470,,UMLS ID:C1839891,,,,,"Leber optic atrophy, susceptibility to",MONDO:0010640,,,,,,OMIM ID:308905 +BMGC_DS10477,BMG_DS038471,"CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",UMLS ID:C1839909,,,,,X-linked complicated corpus callosum dysgenesis,MONDO:0010569,,,,,,OMIM ID:304100 | OMIM ID:308840 +BMGC_DS10478,BMG_DS038472,Keratosis follicularis dwarfism cerebral atrophy,UMLS ID:C1839910,,,,,keratosis follicularis-dwarfism-cerebral atrophy syndrome,MONDO:0010638,,MeSH ID:C536158,,,,OMIM ID:308830 +BMGC_DS10479,BMG_DS038473,Spastic paraplegia with Kallmann syndrome,UMLS ID:C1839911,,,,,Kallmann syndrome with spastic paraplegia,MONDO:0010636,,MeSH ID:C536873,,,,OMIM ID:308750 +BMGC_DS10480,BMG_DS038474,"Jaundice, Familial Obstructive, of Infancy",UMLS ID:C1839927,,,,,"jaundice, familial obstructive, of infancy",MONDO:0010634,,MeSH ID:C564118,,,,OMIM ID:308600 +BMGC_DS10481,BMG_DS038475,IRIS HYPOPLASIA WITH GLAUCOMA,UMLS ID:C1839928,,,,,iris hypoplasia with glaucoma,MONDO:0010633,,,anterior segment dysgenesis 3,DOID:0080608,,OMIM ID:308500 | OMIM ID:601631 +BMGC_DS10482,BMG_DS038477,,UMLS ID:C1839965,,,,,"impacted teeth, multiple",MONDO:0010629,,,,,,OMIM ID:308280 +BMGC_DS10483,BMG_DS038479,"Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein",UMLS ID:C1839982,,,,,"immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein",MONDO:0010625,,MeSH ID:C564120,,,,OMIM ID:308220 +BMGC_DS10484,BMG_DS038480,Ichthyosis follicularis atrichia photophobia syndrome,UMLS ID:C1839988,,,,,IFAP syndrome,MONDO:0100212,,MeSH ID:C536085,ichthyosis follicularis-alopecia-photophobia syndrome 1,DOID:0111821,, +BMGC_DS10485,BMG_DS038483,SMALL PATELLA SYNDROME,UMLS ID:C1840061,,,,,coxopodopatellar syndrome,MONDO:0007841,,,ischiocoxopodopatellar syndrome,DOID:0111382,,OMIM ID:147891 +BMGC_DS10486,BMG_DS038484,"Internal Carotid Artery, Spontaneous Dissection of",UMLS ID:C1840073,,,,,"internal carotid artery, spontaneous dissection of",MONDO:0007840,,MeSH ID:C564125,,,,OMIM ID:147820 +BMGC_DS10487,BMG_DS038485,,UMLS ID:C1840140,,,,,"iris pigment layer, cleavage of",MONDO:0007833,,,,,,OMIM ID:147610 +BMGC_DS10488,BMG_DS038487,,UMLS ID:C1840171,,,,,"insect Stings, hypersensitivity to",MONDO:0007831,,,,,,OMIM ID:147540 +BMGC_DS10489,BMG_DS038490,,UMLS ID:C1840224,,,,,"incisors, rotation of upper central",MONDO:0007825,,,,,,OMIM ID:147350 +BMGC_DS10490,BMG_DS038492,,UMLS ID:C1840235,,,,,solitary median maxillary central incisor syndrome,MONDO:0007819,,,,,,OMIM ID:147250 +BMGC_DS10491,BMG_DS038494,"IgE RESPONSIVENESS, ATOPIC",UMLS ID:C1840253,,,,,"IgE responsiveness, atopic",MONDO:0007817,,,,,,OMIM ID:147050 +BMGC_DS10492,BMG_DS038495,IMMUNE SUPPRESSION,UMLS ID:C1840264,,,,,,,,,,,,OMIM ID:146850 +BMGC_DS10493,BMG_DS038497,"Immune Deficiency, Familial Variable",UMLS ID:C1840266,,,,,"immune deficiency, familial variable",MONDO:0007814,,MeSH ID:C564136,,,,OMIM ID:146830 +BMGC_DS10494,BMG_DS038498,ICHTHYOSIS--CHEEK--EYEBROW SYNDROME,UMLS ID:C1840283,,,,,ichthyosis-cheek-eyebrow syndrome,MONDO:0007811,,,,,,OMIM ID:146720 +BMGC_DS10495,BMG_DS038499,LEBER CONGENITAL AMAUROSIS 11,UMLS ID:C1840284,,,,,Leber congenital amaurosis 11,MONDO:0013454,,,,,,OMIM ID:146690 | OMIM ID:613837 +BMGC_DS10496,BMG_DS038500,"Ichthyosis hystrix, Curth Macklin type",UMLS ID:C1840296,,,,,ichthyosis hystrix of Curth-Macklin,MONDO:0007808,,MeSH ID:C536088,,,,OMIM ID:146590 +BMGC_DS10497,BMG_DS038502,Hypotrichosis Simplex of Scalp,UMLS ID:C1840299,,,,,hypotrichosis 2,MONDO:0007805,,MeSH ID:C564143,,,,OMIM ID:146520 +BMGC_DS10498,BMG_DS038503,HYPOPHOSPHATEMIC BONE DISEASE,UMLS ID:C1840321,,,,,hypophosphatemic bone disease,MONDO:0007799,,,,,,OMIM ID:146350 +BMGC_DS10499,BMG_DS038504,Odontohypophosphatasia,UMLS ID:C1840322,Odontohypophosphatasia (disorder) | Odontohypophosphatasia,SNOMEDCT ID:708672004,,,odontohypophosphatasia,MONDO:0016607,,MeSH ID:C564146,,,, +BMGC_DS10500,BMG_DS038505,Barakat syndrome,UMLS ID:C1840333,"Hypoparathyroidism, deafness, renal disease syndrome (disorder) | Hypoparathyroidism, deafness, renal disease syndrome | Barakat syndrome | HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome | HDR syndrome",SNOMEDCT ID:724282009,,,hypoparathyroidism-deafness-renal disease syndrome,MONDO:0007797,,MeSH ID:C537907,hypoparathyroidism-deafness-renal disease syndrome,DOID:0060878,,OMIM ID:146255 +BMGC_DS10501,BMG_DS038507,Hypomelia mullerian duct anomalies,UMLS ID:C1840335,,,,,mullerian duct anomalies-limb anomalies syndrome,MONDO:0007795,,MeSH ID:C537155,,,,OMIM ID:146160 +BMGC_DS10502,BMG_DS038508,"Hypocalciuric hypercalcemia, familial, type 2",UMLS ID:C1840347,,,,,familial hypocalciuric hypercalcemia 2,MONDO:0007792,,MeSH ID:C537146,,,,OMIM ID:145981 +BMGC_DS10503,BMG_DS038510,Hypertrophia Musculorum Vera,UMLS ID:C1840361,,,,,hypertrophia musculorum vera,MONDO:0007789,,MeSH ID:C564152,,,,OMIM ID:145800 +BMGC_DS10504,BMG_DS038511,Ambras syndrome,UMLS ID:C1840362,,,,,Ambras type hypertrichosis universalis congenita,MONDO:0007787,,MeSH ID:C536605,Ambras type hypertrichosis universalis congenita,DOID:0111060,,OMIM ID:145701 +BMGC_DS10505,BMG_DS038512,"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",UMLS ID:C1840364,,,,,selective pituitary resistance to thyroid hormone,MONDO:0007784,,,selective pituitary thyroid hormone resistance,DOID:0111374,,OMIM ID:190160 | OMIM ID:145650 +BMGC_DS10506,BMG_DS038513,King Denborough syndrome,UMLS ID:C1840365,King Denborough syndrome | King Denborough syndrome (disorder) | Koussef Nichols syndrome,SNOMEDCT ID:764957003,,,King-Denborough syndrome,MONDO:0020485,,MeSH ID:C536883,King Denborough syndrome,DOID:0080990,,OMIM ID:619542 +BMGC_DS10507,BMG_DS038514,"Hyperthermia, Cutaneous, With Headaches And Nausea",UMLS ID:C1840373,,,,,"hyperthermia, cutaneous, with headaches and nausea",MONDO:0007782,,MeSH ID:C564156,,,,OMIM ID:145590 +BMGC_DS10508,BMG_DS038515,Hypertaurinuric Cardiomyopathy,UMLS ID:C1840385,,,,,,,,MeSH ID:C564157,,,, +BMGC_DS10509,BMG_DS038516,Familial hypersensitivity pneumonitis,UMLS ID:C1840386,,,,,"hypersensitivity pneumonitis, familial",MONDO:0007776,,MeSH ID:C536846,,,,OMIM ID:145300 +BMGC_DS10510,BMG_DS038519,"Pseudohypoaldosteronism, Type IIa",UMLS ID:C1840389,,,,,pseudohypoaldosteronism type 2A,MONDO:0007772,,MeSH ID:C564160,,,,OMIM ID:145260 +BMGC_DS10511,BMG_DS038520,"Pseudohypoaldosteronism, Type IIb",UMLS ID:C1840390,,,,,pseudohypoaldosteronism type 2B,MONDO:0013777,,MeSH ID:C564161,,,,OMIM ID:614491 +BMGC_DS10512,BMG_DS038521,"Pseudohypoaldosteronism, Type IIc",UMLS ID:C1840391,,,,,pseudohypoaldosteronism type 2C,MONDO:0013778,,MeSH ID:C564162,,,,OMIM ID:614492 +BMGC_DS10513,BMG_DS038522,,UMLS ID:C1840392,,,,,"hyperpigmentation with or without hypopigmentation, familial progressive",MONDO:0007771,,,,,,OMIM ID:145250 +BMGC_DS10514,BMG_DS038523,Hyperpigmentation of Fuldauer and Kuijpers,UMLS ID:C1840393,,,,,hyperpigmentation of Fuldauer and Kuijpers,MONDO:0007770,,MeSH ID:C564164,,,,OMIM ID:145200 +BMGC_DS10515,BMG_DS038525,HYPERPARATHYROIDISM 1,UMLS ID:C1840402,,,,,hyperparathyroidism 1,MONDO:0007767,,,,,,OMIM ID:145000 | OMIM ID:607393 +BMGC_DS10516,BMG_DS038527,Hyperostosis Cranialis Interna,UMLS ID:C1840404,,,,,hyperostosis cranialis interna,MONDO:0007765,,MeSH ID:C564168,,,,OMIM ID:144755 +BMGC_DS10517,BMG_DS038528,"Hyperlipoproteinemia, Type II, and Deafness",UMLS ID:C1840425,,,,,"hyperlipoproteinemia, type II, and deafness",MONDO:0007760,,MeSH ID:C564170,,,,OMIM ID:144300 +BMGC_DS10518,BMG_DS038529,"Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads",UMLS ID:C1840427,,,,,,,,MeSH ID:C564171,,,, +BMGC_DS10519,BMG_DS038532,,UMLS ID:C1840437,,,,,isolated hyperchlorhidrosis,MONDO:0007747,,,isolated hyperchlorhidrosis,DOID:0111371,,OMIM ID:143860 +BMGC_DS10520,BMG_DS038533,"Orthostatic Hypotensive Disorder, Streeten Type",UMLS ID:C1840438,,,,,"orthostatic hypotensive disorder, Streeten type",MONDO:0007746,,MeSH ID:C564174,,,,OMIM ID:143850 +BMGC_DS10521,BMG_DS038534,"MULTICYSTIC RENAL DYSPLASIA, BILATERAL",UMLS ID:C1840451,,,,,bilateral multicystic dysplastic kidney,MONDO:0019982,,,CAKUT2,DOID:0080207,,OMIM ID:143400 +BMGC_DS10522,BMG_DS038535,Hyaloideoretinal degeneration of Wagner,UMLS ID:C1840452,,,,,Wagner disease,MONDO:0007740,,MeSH ID:C536075,,,,OMIM ID:143200 +BMGC_DS10523,BMG_DS038536,"Horner Syndrome, Congenital",UMLS ID:C1840475,,,,,congenital Horner syndrome,MONDO:0007735,,MeSH ID:C564178,,,,OMIM ID:143000 +BMGC_DS10524,BMG_DS038537,Holoprosencephaly 4,UMLS ID:C1840528,,,,,holoprosencephaly 4,MONDO:0007734,,MeSH ID:C564180,holoprosencephaly 4,DOID:0110880,,OMIM ID:142946 +BMGC_DS10525,BMG_DS038538,HOLOPROSENCEPHALY 3,UMLS ID:C1840529,,,,,holoprosencephaly 3,MONDO:0007733,,,,,,OMIM ID:142945 | OMIM ID:600725 +BMGC_DS10526,BMG_DS038540,"Hidradenitis suppurativa, familial",UMLS ID:C1840560,,,,,familial acne inversa,MONDO:0024516,,MeSH ID:C538118,,,, +BMGC_DS10527,BMG_DS038541,"HIP DYSPLASIA, BEUKES TYPE",UMLS ID:C1840572,,,,,"hip dysplasia, Beukes type",MONDO:0007726,,,Beukes hip dysplasia,DOID:0111367,,OMIM ID:142669 | OMIM ID:611482 +BMGC_DS10528,BMG_DS038542,"Histiocytosis, Progressive Mucinous",UMLS ID:C1840586,,,,,hereditary progressive mucinous histiocytosis,MONDO:0007725,,MeSH ID:C564186,,,,OMIM ID:142630 +BMGC_DS10529,BMG_DS038543,,UMLS ID:C1840643,,,,,diaphragmatic hernia 1,MONDO:0007719,,,,,,OMIM ID:142340 +BMGC_DS10530,BMG_DS038544,"Hepatic Adenomas, Familial",UMLS ID:C1840646,,,,,"hepatic adenomas, familial",MONDO:0007718,,MeSH ID:C564190,,,,OMIM ID:142330 +BMGC_DS10531,BMG_DS038545,HEMOGLOBIN--VARIANTS FOR WHICH THE CHAIN CARRYING THE MUTATION IS UNKNOWN OR UNCERTAIN,UMLS ID:C1840647,,,,,hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain,MONDO:0007717,,,,,,OMIM ID:142309 +BMGC_DS10532,BMG_DS038548,"Methemoglobinemia, Alpha-Globin Type",UMLS ID:C1841414,,,,,,,,MeSH ID:C564194,,,, +BMGC_DS10533,BMG_DS038552,"Hemifacial Spasm, Familial",UMLS ID:C1841639,,,,,clonic hemifacial spasm,MONDO:0007713,,MeSH ID:C564198,,,,OMIM ID:141405 +BMGC_DS10534,BMG_DS038553,Hemifacial Hyperplasia With Strabismus,UMLS ID:C1841640,,,,,Bencze syndrome,MONDO:0007711,,MeSH ID:C564199,,,,OMIM ID:141350 +BMGC_DS10535,BMG_DS038554,Heme Oxygenase 1 Deficiency,UMLS ID:C1841651,,,,,heme oxygenase 1 deficiency,MONDO:0013536,,MeSH ID:C564200,,,,OMIM ID:614034 +BMGC_DS10536,BMG_DS038555,,UMLS ID:C1841654,,,,,hemangiomas of small intestine,MONDO:0007707,,,,,,OMIM ID:140900 +BMGC_DS10537,BMG_DS038556,"Heart-hand syndrome, Spanish type",UMLS ID:C1841657,,,,,heart-hand syndrome type 3,MONDO:0007702,,MeSH ID:C535853,,,,OMIM ID:140450 +BMGC_DS10538,BMG_DS038557,"Progressive Familial Heart Block, Type II",UMLS ID:C1841658,,,,,progressive familial heart block type II,MONDO:0007701,,MeSH ID:C564202,progressive familial heart block type II,DOID:0111075,,OMIM ID:140400 +BMGC_DS10539,BMG_DS038559,Hand foot uterus syndrome,UMLS ID:C1841679,,,,,hand-foot-genital syndrome,MONDO:0007698,,MeSH ID:C535627,,,,OMIM ID:140000 +BMGC_DS10540,BMG_DS038563,,UMLS ID:C1841694,,,,,hairy palms and soles,MONDO:0007695,,,,,,OMIM ID:139650 +BMGC_DS10541,BMG_DS038564,,UMLS ID:C1841695,,,,,hairy nose tip,MONDO:0007694,,,,,,OMIM ID:139630 +BMGC_DS10542,BMG_DS038566,ACHROMATOPSIA 4,UMLS ID:C1841721,,,,,achromatopsia 4,MONDO:0013465,,,,,,OMIM ID:139340 | OMIM ID:613856 +BMGC_DS10543,BMG_DS038567,"Prolonged Bleeding Time, Brachydactyly, and Mental Retardation",UMLS ID:C1841727,,,,,,,,MeSH ID:C564207,,,, +BMGC_DS10544,BMG_DS038571,Grant syndrome,UMLS ID:C1841835,Grant syndrome | Grant syndrome (disorder),SNOMEDCT ID:723827003,,,Grant syndrome,MONDO:0007683,,MeSH ID:C537293,,,,OMIM ID:138930 +BMGC_DS10545,BMG_DS038578,Glucocorticoid Receptor Deficiency,UMLS ID:C1841972,,,,,glucocorticoid resistance,MONDO:0014421,,MeSH ID:C564221,,,,OMIM ID:615962 +BMGC_DS10546,BMG_DS038579,"Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",UMLS ID:C1841973,,,,,,,,MeSH ID:C564221,,,, +BMGC_DS10547,BMG_DS038580,GLOMUVENOUS MALFORMATIONS,UMLS ID:C1841984,,,,,glomuvenous malformation,MONDO:0007672,,,,,,OMIM ID:138000 | OMIM ID:601749 +BMGC_DS10548,BMG_DS038583,Globulin Anomaly involving Beta (2A)-Globulin,UMLS ID:C1842009,,,,,globulin anomaly involving beta (2A)-globulin,MONDO:0007668,,MeSH ID:C564229,,,,OMIM ID:137900 +BMGC_DS10549,BMG_DS038584,Glaucoma and Sleep Apnea,UMLS ID:C1842025,,,,,glaucoma-sleep apnea syndrome,MONDO:0007666,,MeSH ID:C564232,,,,OMIM ID:137763 +BMGC_DS10550,BMG_DS038585,"GLAUCOMA 1, OPEN ANGLE, E",UMLS ID:C1842026,,,,,,,,,,,,OMIM ID:602432 | OMIM ID:137760 +BMGC_DS10551,BMG_DS038586,"GLAUCOMA 1, OPEN ANGLE, A",UMLS ID:C1842028,,,,,"glaucoma 1, open angle, A",MONDO:0007664,,,juvenile glaucoma,DOID:1068,,OMIM ID:137750 | OMIM ID:601652 +BMGC_DS10552,BMG_DS038588,"IRIDOGONIODYSGENESIS, TYPE 2",UMLS ID:C1842031,,,,,anterior segment dysgenesis 4,MONDO:0007662,,,anterior segment dysgenesis 4,DOID:0080609,,OMIM ID:137600 +BMGC_DS10553,BMG_DS038589,Giant Platelet Syndrome with Thrombocytopenia,UMLS ID:C1842035,,,,,obsolete giant platelet syndrome with thrombocytopenia,MONDO:0007659,,MeSH ID:C564237,,,,OMIM ID:137560 +BMGC_DS10554,BMG_DS038590,,UMLS ID:C1842036,,,,,large congenital melanocytic nevus,MONDO:0044792,,,large congenital melanocytic nevus,DOID:0111359,,OMIM ID:137550 +BMGC_DS10555,BMG_DS038591,GIANT NEUTROPHIL LEUKOCYTES,UMLS ID:C1842039,,,,,giant neutrophil leukocytes,MONDO:0007657,,,,,,OMIM ID:137500 +BMGC_DS10556,BMG_DS038596,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F",UMLS ID:C1842062,,,,,autosomal dominant limb-girdle muscular dystrophy type 1F,MONDO:0012034,,,,,,OMIM ID:608423 +BMGC_DS10557,BMG_DS038597,,UMLS ID:C1842073,,,,,bradyopsia,MONDO:0012033,,,bradyopsia,DOID:0050335,, +BMGC_DS10558,BMG_DS038599,Platelet Glycoprotein IV Deficiency,UMLS ID:C1842090,,,,,platelet-type bleeding disorder 10,MONDO:0012031,,MeSH ID:C564245,,,,OMIM ID:608404 +BMGC_DS10559,BMG_DS038600,"Deafness, Autosomal Dominant 43",UMLS ID:C1842108,,,,,autosomal dominant nonsyndromic hearing loss 43,MONDO:0012030,,MeSH ID:C564246,,,,OMIM ID:608394 +BMGC_DS10560,BMG_DS038601,"Microcephaly, Primary Autosomal Recessive, 6",UMLS ID:C1842109,,,,,"microcephaly 6, primary, autosomal recessive",MONDO:0012029,,MeSH ID:C564247,,,,OMIM ID:608393 +BMGC_DS10561,BMG_DS038604,Branchiootic Syndrome 3,UMLS ID:C1842124,,,,,branchiootic syndrome 3,MONDO:0012025,,MeSH ID:C564248,,,,OMIM ID:608389 +BMGC_DS10562,BMG_DS038605,Retinitis Pigmentosa 26,UMLS ID:C1842127,,,,,retinitis pigmentosa 26,MONDO:0012024,,MeSH ID:C564249,retinitis pigmentosa 26,DOID:0110368,,OMIM ID:608380 +BMGC_DS10563,BMG_DS038606,"Deafness, Autosomal Dominant 49",UMLS ID:C1842136,,,,,autosomal dominant nonsyndromic hearing loss 49,MONDO:0012023,,MeSH ID:C564250,,,,OMIM ID:608372 +BMGC_DS10564,BMG_DS038607,Orofacial Cleft 4,UMLS ID:C1842143,,,,,orofacial cleft 4,MONDO:0012022,,MeSH ID:C564251,orofacial cleft 4,DOID:0080398,,OMIM ID:608371 +BMGC_DS10565,BMG_DS038608,,UMLS ID:C1842149,,,,,"spondyloepiphyseal dysplasia, Kimberley type",MONDO:0012019,,,spondyloepiphyseal dysplasia Kimberley type,DOID:0112282,,OMIM ID:608361 +BMGC_DS10566,BMG_DS038609,Myosin storage myopathy,UMLS ID:C1842160,Myosin storage myopathy (disorder) | Myosin storage myopathy | Hyaline body myopathy,SNOMEDCT ID:699267007,,,"congenital myopathy 7A, myosin storage, autosomal dominant",MONDO:0008409,,,,,,OMIM ID:181430 | OMIM ID:608358 +BMGC_DS10567,BMG_DS038610,Capillary Malformation-Arteriovenous Malformation,UMLS ID:C1842180,,,,,capillary malformation-arteriovenous malformation syndrome,MONDO:0012016,,MeSH ID:C564254,,,, +BMGC_DS10568,BMG_DS038611,"Nystagmus 3, congenital, autosomal dominant",UMLS ID:C1842186,,,,,"nystagmus 3, congenital, autosomal dominant",MONDO:0012015,,MeSH ID:C537855,,,,OMIM ID:608345 +BMGC_DS10569,BMG_DS038612,"Charcot-Marie-Tooth Disease, Recessive Intermediate A",UMLS ID:C1842197,,,,,Charcot-Marie-Tooth disease recessive intermediate A,MONDO:0012014,,MeSH ID:C564256,Charcot-Marie-Tooth disease recessive intermediate A,DOID:0110201,,OMIM ID:608340 +BMGC_DS10570,BMG_DS038613,"Charcot-Marie-Tooth Disease, Dominant Intermediate C",UMLS ID:C1842237,,,,,Charcot-Marie-Tooth disease dominant intermediate C,MONDO:0012012,,MeSH ID:C564257,Charcot-Marie-Tooth disease dominant intermediate C,DOID:0110199,,OMIM ID:608323 +BMGC_DS10571,BMG_DS038614,"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1",UMLS ID:C1842247,,,,,"coronary artery disease, autosomal dominant, 1",MONDO:0012011,,,,,,OMIM ID:608320 +BMGC_DS10572,BMG_DS038621,"Deafness, Autosomal Recessive 39",UMLS ID:C1842342,,,,,autosomal recessive nonsyndromic hearing loss 39,MONDO:0012003,,MeSH ID:C564265,,,,OMIM ID:608265 +BMGC_DS10573,BMG_DS038622,"Deafness, Autosomal Recessive 40",UMLS ID:C1842345,,,,,autosomal recessive nonsyndromic hearing loss 40,MONDO:0012002,,MeSH ID:C564266,,,,OMIM ID:608264 +BMGC_DS10574,BMG_DS038623,"Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant",UMLS ID:C1842349,,,,,"mandibulofacial dysostosis with ptosis, autosomal dominant",MONDO:0012001,,MeSH ID:C564267,,,,OMIM ID:608257 +BMGC_DS10575,BMG_DS038624,OTOSCLEROSIS 3,UMLS ID:C1842353,,,,,otosclerosis 3,MONDO:0011999,,,otosclerosis 3,DOID:0060922,,OMIM ID:608244 +BMGC_DS10576,BMG_DS038625,"Slowed Nerve Conduction Velocity, Autosomal Dominant",UMLS ID:C1842357,,,,,autosomal dominant slowed nerve conduction velocity,MONDO:0011998,,MeSH ID:C564269,,,,OMIM ID:608236 +BMGC_DS10577,BMG_DS038626,HERMANSKY-PUDLAK SYNDROME 2,UMLS ID:C1842362,,,,,Hermansky-Pudlak syndrome 2,MONDO:0011997,,,,,,OMIM ID:603401 | OMIM ID:608233 +BMGC_DS10578,BMG_DS038627,"Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation",UMLS ID:C1842363,,,,,cataract - congenital heart disease - neural tube defect syndrome,MONDO:0011995,,MeSH ID:C564271,,,,OMIM ID:608227 +BMGC_DS10579,BMG_DS038628,"Deafness, Autosomal Dominant 41",UMLS ID:C1842371,,,,,autosomal dominant nonsyndromic hearing loss 41,MONDO:0011994,,MeSH ID:C564272,,,,OMIM ID:608224 +BMGC_DS10580,BMG_DS038630,"DEAFNESS, AUTOSOMAL RECESSIVE 38",UMLS ID:C1842381,,,,,autosomal recessive nonsyndromic hearing loss 38,MONDO:0011991,,,,,,OMIM ID:608219 +BMGC_DS10581,BMG_DS038631,"Epilepsy, Benign Neonatal, 3",UMLS ID:C1842382,,,,,"seizures, benign familial neonatal, 3",MONDO:0011990,,MeSH ID:C564274,,,,OMIM ID:608217 +BMGC_DS10582,BMG_DS038632,Neutrophil Immunodeficiency Syndrome,UMLS ID:C1842398,,,,,neutrophil immunodeficiency syndrome,MONDO:0011988,,MeSH ID:C564275,immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,DOID:0112064,,OMIM ID:608203 +BMGC_DS10583,BMG_DS038633,TROPICAL CALCIFIC PANCREATITIS,UMLS ID:C1842402,,,,,tropical pancreatitis,MONDO:0011986,,,,,,OMIM ID:167790 | OMIM ID:608189 +BMGC_DS10584,BMG_DS038634,"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4",UMLS ID:C1842413,,,,,hyper-IgM syndrome type 4,MONDO:0011985,,,immunodeficiency with hyper-IgM type 4,DOID:0060760,,OMIM ID:608184 +BMGC_DS10585,BMG_DS038635,Synpolydactyly 2,UMLS ID:C1842422,,,,,synpolydactyly type 2,MONDO:0011984,,MeSH ID:C564278,,,,OMIM ID:608180 +BMGC_DS10586,BMG_DS038637,,UMLS ID:C1842444,,,,,"autoimmune thyroid disease, susceptibility to, 3",MONDO:0011982,,,,,,OMIM ID:608175 +BMGC_DS10587,BMG_DS038640,CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL,UMLS ID:C1842462,,,,,,,,,,,,OMIM ID:114290 | OMIM ID:608160 +BMGC_DS10588,BMG_DS038642,Nablus mask-like facial syndrome,UMLS ID:C1842464,8q22.1 microdeletion syndrome (disorder) | 8q22.1 microdeletion syndrome | Monosomy 8q22.1 | Nablus mask-like facial syndrome,SNOMEDCT ID:719664004,,,8q22.1 microdeletion syndrome,MONDO:0011977,,MeSH ID:C536110,,,,OMIM ID:608156 +BMGC_DS10589,BMG_DS038643,"Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones",UMLS ID:C1842465,,,,,lipodystrophy-intellectual disability-deafness syndrome,MONDO:0011976,,MeSH ID:C564283,,,,OMIM ID:608154 +BMGC_DS10590,BMG_DS038645,Retinitis Pigmentosa 7,UMLS ID:C1842475,,,,,retinitis pigmentosa 7,MONDO:0011974,,MeSH ID:C564284,retinitis pigmentosa 7,DOID:0110383,,OMIM ID:608133 +BMGC_DS10591,BMG_DS038646,"Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc",UMLS ID:C1842486,,,,,"zinc deficiency, transient neonatal",MONDO:0011973,,MeSH ID:C564286,,,,OMIM ID:608118 +BMGC_DS10592,BMG_DS038647,"Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp",UMLS ID:C1842531,,,,,rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,MONDO:0011970,,MeSH ID:C535499,,,,OMIM ID:608105 +BMGC_DS10593,BMG_DS038648,Dystonia 18,UMLS ID:C1842534,Paroxysmal exertion-induced dyskinesia (disorder) | Paroxysmal exertion-induced dyskinesia | Dystonia 18,SNOMEDCT ID:724072002,,,childhood onset GLUT1 deficiency syndrome 2,MONDO:0012805,,MeSH ID:C564288,glucose transporter type 1 deficiency syndrome 2,DOID:0090045,,OMIM ID:612126 +BMGC_DS10594,BMG_DS038649,Limb-girdle muscle atrophy,UMLS ID:C1842552,,,,,,,,,,,,OMIM ID:MTHU002477 +BMGC_DS10595,BMG_DS038651,"Heterotopia, Periventricular, Autosomal Recessive",UMLS ID:C1842563,,,,,"periventricular heterotopia with microcephaly, autosomal recessive",MONDO:0011966,,MeSH ID:C564292,,,,OMIM ID:608097 +BMGC_DS10596,BMG_DS038653,JOUBERT SYNDROME 2,UMLS ID:C1842577,,,,,Joubert syndrome 2,MONDO:0011963,,,,,,OMIM ID:608091 | OMIM ID:613277 +BMGC_DS10597,BMG_DS038654,"Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux",UMLS ID:C1842586,,,,,hereditary sensory and autonomic neuropathy type 1B,MONDO:0011961,,MeSH ID:C564296,hereditary sensory neuropathy type 1B,DOID:0070148,,OMIM ID:608088 +BMGC_DS10598,BMG_DS038655,SCHIZOPHRENIA 11,UMLS ID:C1842605,,,,,schizophrenia 11,MONDO:0011960,,,schizophrenia 11,DOID:0070087,,OMIM ID:608078 +BMGC_DS10599,BMG_DS038657,,UMLS ID:C1842632,,,,,"autism, susceptibility to, 3",MONDO:0011956,,,,,,OMIM ID:608049 +BMGC_DS10600,BMG_DS038662,"Spinocerebellar ataxia, autosomal recessive 6",UMLS ID:C1842676,,,,,infantile-onset autosomal recessive nonprogressive cerebellar ataxia,MONDO:0011950,,MeSH ID:C537312,autosomal recessive spinocerebellar ataxia 6,DOID:0111617,,OMIM ID:608029 +BMGC_DS10601,BMG_DS038664,Pontocerebellar Hypoplasia Type 3,UMLS ID:C1842687,,,,,pontocerebellar hypoplasia type 3,MONDO:0011948,,MeSH ID:C548072,pontocerebellar hypoplasia type 3,DOID:0060272,,OMIM ID:608027 +BMGC_DS10602,BMG_DS038665,Diaphanospondylodysostosis,UMLS ID:C1842691,Diaphanospondylodysostosis (disorder) | Diaphanospondylodysostosis,SNOMEDCT ID:721094006,,,diaphanospondylodysostosis,MONDO:0011946,,MeSH ID:C564305,,,,OMIM ID:608022 +BMGC_DS10603,BMG_DS038666,"GAUCHER DISEASE, PERINATAL LETHAL",UMLS ID:C1842704,,,,,Gaucher disease perinatal lethal,MONDO:0011945,,,,,,OMIM ID:608013 | OMIM ID:606463 +BMGC_DS10604,BMG_DS038671,SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION,UMLS ID:C1842763,,,,,Spondyloenchondrodysplasia with immune dysregulation,MONDO:0011939,,,,,,OMIM ID:171640 | OMIM ID:271550 | OMIM ID:607944 | OMIM ID:607944 +BMGC_DS10605,BMG_DS038672,Atrial septal defect 2,UMLS ID:C1842778,,,,,atrial septal defect 2,MONDO:0011938,,MeSH ID:C538263,,,,OMIM ID:607941 +BMGC_DS10606,BMG_DS038673,"Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",UMLS ID:C1842797,,,,,,,,MeSH ID:C564309,peeling skin syndrome 4,DOID:0070523,, +BMGC_DS10607,BMG_DS038674,RETINITIS PIGMENTOSA 30,UMLS ID:C1842816,,,,,retinitis pigmentosa 30,MONDO:0011935,,,,,,OMIM ID:607643 | OMIM ID:607921 +BMGC_DS10608,BMG_DS038675,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",UMLS ID:C1842836,,,,,ALG2-congenital disorder of glycosylation,MONDO:0011933,,,congenital disorder of glycosylation Ii,DOID:0080561,,OMIM ID:607905 | OMIM ID:607906 +BMGC_DS10609,BMG_DS038676,HYPOTRICHOSIS 6,UMLS ID:C1842839,,,,,hypotrichosis 6,MONDO:0011932,,,hypotrichosis 6,DOID:0110703,,OMIM ID:607892 | OMIM ID:607903 +BMGC_DS10610,BMG_DS038677,,UMLS ID:C1842852,,,,,"epilepsy, familial adult myoclonic, 2",MONDO:0011930,,,,,,OMIM ID:607876 +BMGC_DS10611,BMG_DS038678,Chromosome 1p36 Deletion Syndrome,UMLS ID:C1842870,,,,,chromosome 1p36 deletion syndrome,MONDO:0011929,,MeSH ID:C535362,chromosome 1p36 deletion syndrome,DOID:0060410,,OMIM ID:607872 +BMGC_DS10612,BMG_DS038679,Caudal Duplication Anomaly,UMLS ID:C1842884,,,,,caudal duplication,MONDO:0011928,,MeSH ID:C564315,,,,OMIM ID:607864 +BMGC_DS10613,BMG_DS038681,"Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",UMLS ID:C1842898,,,,,,,,MeSH ID:C564317,,,, +BMGC_DS10614,BMG_DS038682,Adult-Onset Vitelliform Macular Dystrophy,UMLS ID:C1842914,,,,,adult-onset foveomacular vitelliform dystrophy,MONDO:0011979,Vitelliform Macular Dystrophy,MeSH ID:D057826,vitelliform macular dystrophy,DOID:0050661,, +BMGC_DS10615,BMG_DS038684,"Neutropenia, Nonimmune Chronic Idiopathic, Adult",UMLS ID:C1842930,,,,,nonimmune chronic idiopathic neutropenia of adults,MONDO:0011922,,MeSH ID:C564320,,,,OMIM ID:607847 +BMGC_DS10616,BMG_DS038685,"AURAL ATRESIA, CONGENITAL",UMLS ID:C1842937,,,,,"aural atresia, congenital",MONDO:0011921,,,,,,OMIM ID:614427 | OMIM ID:607842 +BMGC_DS10617,BMG_DS038686,"Deafness, Autosomal Dominant 48",UMLS ID:C1842939,,,,,autosomal dominant nonsyndromic hearing loss 48,MONDO:0011920,,MeSH ID:C564322,,,,OMIM ID:607841 +BMGC_DS10618,BMG_DS038687,,UMLS ID:C1842979,,,,,"autoimmune disease, susceptibility to, 1",MONDO:0011919,,,,,,OMIM ID:607836 +BMGC_DS10619,BMG_DS038688,,UMLS ID:C1842982,,,,,"focal segmental glomerulosclerosis 3, susceptibility to",MONDO:0011917,,,,,,OMIM ID:607832 +BMGC_DS10620,BMG_DS038689,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",UMLS ID:C1842983,,,,,Charcot-Marie-Tooth disease axonal type 2K,MONDO:0011916,,,,,,OMIM ID:607831 +BMGC_DS10621,BMG_DS038690,"Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",UMLS ID:C1842984,,,,,autosomal dominant Charcot-Marie-Tooth disease type 2K,MONDO:0020558,,MeSH ID:C564325,,,, +BMGC_DS10622,BMG_DS038691,"MITRAL VALVE PROLAPSE, MYXOMATOUS 2",UMLS ID:C1843003,,,,,"mitral valve prolapse, myxomatous 2",MONDO:0011915,,,,,,OMIM ID:607829 +BMGC_DS10623,BMG_DS038692,HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME,UMLS ID:C1843004,,,,,hypotrichosis-lymphedema-telangiectasia syndrome,MONDO:0011914,,,,,,OMIM ID:601618 | OMIM ID:607823 +BMGC_DS10624,BMG_DS038693,"Alzheimer disease, familial, type 3",UMLS ID:C1843013,,,,,Alzheimer disease 3,MONDO:0011913,,MeSH ID:C536598,,,,OMIM ID:607822 +BMGC_DS10625,BMG_DS038694,"Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",UMLS ID:C1843014,,,,,,,,MeSH ID:C564329,,,, +BMGC_DS10626,BMG_DS038695,"Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",UMLS ID:C1843015,,,,,,,,MeSH ID:C564330,,,, +BMGC_DS10627,BMG_DS038696,"Deafness, Autosomal Recessive 37",UMLS ID:C1843028,,,,,autosomal recessive nonsyndromic hearing loss 37,MONDO:0011912,,MeSH ID:C564331,,,,OMIM ID:607821 +BMGC_DS10628,BMG_DS038697,Craniolenticulosutural Dysplasia,UMLS ID:C1843042,,,,,craniolenticulosutural dysplasia,MONDO:0011911,,MeSH ID:C564332,craniolenticulosutural dysplasia,DOID:0070307,,OMIM ID:607812 +BMGC_DS10629,BMG_DS038698,"Charcot-Marie-Tooth Disease, Dominant Intermediate D",UMLS ID:C1843075,,,,,Charcot-Marie-Tooth disease dominant intermediate D,MONDO:0011909,,MeSH ID:C564333,Charcot-Marie-Tooth disease dominant intermediate D,DOID:0110200,,OMIM ID:607791 +BMGC_DS10630,BMG_DS038699,Acrocapitofemoral Dysplasia,UMLS ID:C1843096,,,,,acrocapitofemoral dysplasia,MONDO:0011907,,MeSH ID:C564334,acrocapitofemoral dysplasia,DOID:0050604,,OMIM ID:607778 +BMGC_DS10631,BMG_DS038700,"Bile acid synthesis defect, congenital, 1",UMLS ID:C1843116,,,,,congenital bile acid synthesis defect 1,MONDO:0011906,,MeSH ID:C535442,congenital bile acid synthesis defect 1,DOID:0111071,,OMIM ID:607765 +BMGC_DS10632,BMG_DS038701,"Hypercholanemia, Familial",UMLS ID:C1843139,,,,,"hypercholanemia, familial",MONDO:0100327,,MeSH ID:C564336,,,, +BMGC_DS10633,BMG_DS038702,"SEIZURES, BENIGN FAMILIAL INFANTILE, 3",UMLS ID:C1843140,,,,,"seizures, benign familial infantile, 3",MONDO:0011904,,,benign familial infantile seizures 3,DOID:0081116,,OMIM ID:182390 | OMIM ID:607745 +BMGC_DS10634,BMG_DS038704,"Charcot-Marie-Tooth disease, Type 2J",UMLS ID:C1843153,,,,,Charcot-Marie-Tooth disease type 2J,MONDO:0011903,,MeSH ID:C535417,,,,OMIM ID:607736 +BMGC_DS10635,BMG_DS038705,"Charcot-Marie-Tooth disease, demyelinating, Type 1F",UMLS ID:C1843164,,,,,Charcot-Marie-Tooth disease type 1F,MONDO:0011902,,MeSH ID:C537987,,,,OMIM ID:607734 +BMGC_DS10636,BMG_DS038706,"Charcot-Marie-Tooth disease, Type 2H",UMLS ID:C1843173,,,,,Charcot-Marie-Tooth disease axonal type 2H,MONDO:0011901,,MeSH ID:C535415,,,,OMIM ID:607731 +BMGC_DS10637,BMG_DS038708,Noonan syndrome-like disorder with loose anagen hair,UMLS ID:C1843181,Noonan syndrome-like disorder with loose anagen hair (disorder) | Noonan syndrome-like disorder with loose anagen hair | Tosti syndrome,SNOMEDCT ID:723444009,,,Noonan syndrome-like disorder with loose anagen hair,MONDO:0011899,,,,,, +BMGC_DS10638,BMG_DS038709,"Charcot-Marie-Tooth disease, Type 4A, axonal form",UMLS ID:C1843183,,,,,"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive",MONDO:0011898,,MeSH ID:C539595,,,,OMIM ID:607706 +BMGC_DS10639,BMG_DS038710,Parkinson Disease 11,UMLS ID:C1843211,,,,,,,,MeSH ID:C564345,,,, +BMGC_DS10640,BMG_DS038711,"Charcot-Marie-Tooth disease, Type 2E",UMLS ID:C1843225,,,,,Charcot-Marie-Tooth disease type 2E,MONDO:0011894,,MeSH ID:C537994,,,,OMIM ID:607684 +BMGC_DS10641,BMG_DS038714,"Charcot-Marie-Tooth disease, Type 1D",UMLS ID:C1843247,,,,,Charcot-Marie-Tooth disease type 1D,MONDO:0011890,,MeSH ID:C537985,Charcot-Marie-Tooth disease type 1D,DOID:0110150,,OMIM ID:607678 +BMGC_DS10642,BMG_DS038715,IRAK4 Deficiency,UMLS ID:C1843256,,,,,immunodeficiency 67,MONDO:0011888,,MeSH ID:C564352,,,,OMIM ID:607676 +BMGC_DS10643,BMG_DS038716,"Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy",UMLS ID:C1843257,,,,,"cataract, congenital, with mental impairment and dentate gyrus atrophy",MONDO:0011887,,MeSH ID:C564353,,,,OMIM ID:607674 +BMGC_DS10644,BMG_DS038717,,UMLS ID:C1843264,,,,,torsion dystonia 13,MONDO:0011886,,,,,,OMIM ID:607671 +BMGC_DS10645,BMG_DS038724,Skin Fragility-Woolly Hair Syndrome,UMLS ID:C1843292,,,,,woolly hair-skin fragility syndrome,MONDO:0957307,,MeSH ID:C564359,,,,OMIM ID:620415 +BMGC_DS10646,BMG_DS038725,"CANDIDIASIS, FAMILIAL CHRONIC NAIL, WITH ICAM1 DEFICIENCY",UMLS ID:C1843306,,,,,"candidiasis, familial, 3",MONDO:0011880,,,,,,OMIM ID:607644 +BMGC_DS10647,BMG_DS038726,"Neuronopathy, Distal Hereditary Motor, Type Viib",UMLS ID:C1843315,,,,,"neuronopathy, distal hereditary motor, type 7B",MONDO:0011879,,MeSH ID:C564362,,,,OMIM ID:607641 +BMGC_DS10648,BMG_DS038727,Van Buchem disease type 2,UMLS ID:C1843323,,,,,,,,MeSH ID:C536527,,,, +BMGC_DS10649,BMG_DS038728,"OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",UMLS ID:C1843330,,,,,autosomal dominant osteopetrosis 1,MONDO:0011877,,,autosomal dominant osteopetrosis 1,DOID:0110937,,OMIM ID:603506 | OMIM ID:607634 +BMGC_DS10650,BMG_DS038729,"ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS",UMLS ID:C1843355,,,,,neonatal ichthyosis-sclerosing cholangitis syndrome,MONDO:0011874,,,,,,OMIM ID:603718 | OMIM ID:607626 +BMGC_DS10651,BMG_DS038730,"NIEMANN-PICK DISEASE, TYPE C2",UMLS ID:C1843366,,,,,"Niemann-Pick disease, type C2",MONDO:0011873,,,,,,OMIM ID:601015 | OMIM ID:607625 +BMGC_DS10652,BMG_DS038733,"Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",UMLS ID:C1843463,,,,,annular epidermolytic ichthyosis,MONDO:0011870,,MeSH ID:C564367,,,, +BMGC_DS10653,BMG_DS038735,Lethal Congenital Contracture Syndrome 2,UMLS ID:C1843478,,,,,lethal congenital contracture syndrome 2,MONDO:0011868,,MeSH ID:C564369,lethal congenital contracture syndrome 2,DOID:0060560,,OMIM ID:607598 +BMGC_DS10654,BMG_DS038738,"Pontocerebellar Hypoplasia, Type 1a",UMLS ID:C1843504,,,,,pontocerebellar hypoplasia type 1A,MONDO:0011866,,MeSH ID:C548069,pontocerebellar hypoplasia type 1,DOID:0112322,,OMIM ID:607596 +BMGC_DS10655,BMG_DS038742,"Spastic Paraplegia 24, Autosomal Recessive",UMLS ID:C1843569,,,,,hereditary spastic paraplegia 24,MONDO:0011862,,MeSH ID:C564375,,,,OMIM ID:607584 +BMGC_DS10656,BMG_DS038743,"LEPROSY, SUSCEPTIBILITY TO, 2",UMLS ID:C1843632,,,,,"leprosy, susceptibility to, 2",MONDO:0011860,,,,,,OMIM ID:607572 +BMGC_DS10657,BMG_DS038744,,UMLS ID:C1843661,,,,,"spastic paraplegia, ataxia, and intellectual disability",MONDO:0011858,,,,,,OMIM ID:607565 +BMGC_DS10658,BMG_DS038745,"Atrial fibrillation, familial 1",UMLS ID:C1843687,,,,,"atrial fibrillation, familial, 1",MONDO:0012066,,MeSH ID:C538261,,,,OMIM ID:608583 +BMGC_DS10659,BMG_DS038749,,UMLS ID:C1843758,,,,,"Camptosynpolydactyly, complex",MONDO:0011853,,,,,,OMIM ID:607539 +BMGC_DS10660,BMG_DS038750,"TOENAIL DYSTROPHY, ISOLATED",UMLS ID:C1843761,,,,,nonsyndromic congenital nail disorder 8,MONDO:0011852,,,nonsyndromic congenital nail disorder 8,DOID:0080086,,OMIM ID:607523 +BMGC_DS10661,BMG_DS038751,,UMLS ID:C1843765,,,,,"migraine with or without aura, susceptibility to, 6",MONDO:0011851,,,,,,OMIM ID:607516 +BMGC_DS10662,BMG_DS038753,,UMLS ID:C1843771,,,,,"migraine with or without aura, susceptibility to, 5",MONDO:0011850,,,,,,OMIM ID:607508 +BMGC_DS10663,BMG_DS038755,,UMLS ID:C1843773,,,,,"migraine without aura, susceptibility to, 4",MONDO:0011847,,,,,,OMIM ID:607501 +BMGC_DS10664,BMG_DS038756,,UMLS ID:C1843776,,,,,"bulimia nervosa, susceptibility to, 1",MONDO:0011846,,,,,,OMIM ID:607499 +BMGC_DS10665,BMG_DS038757,,UMLS ID:C1843782,,,,,"migraine with or without aura, susceptibility to, 3",MONDO:0011845,,,,,,OMIM ID:607498 +BMGC_DS10666,BMG_DS038758,"DYSTONIA 15, MYOCLONIC",UMLS ID:C1843786,,,,,myoclonic dystonia 15,MONDO:0011844,,,myoclonic dystonia 15,DOID:0090035,,OMIM ID:607488 +BMGC_DS10667,BMG_DS038759,"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",UMLS ID:C1843792,,,,,GRN-related frontotemporal lobar degeneration with Tdp43 inclusions,MONDO:0011842,,,,,,OMIM ID:607485 +BMGC_DS10668,BMG_DS038760,Biotin-thiamine-responsive basal ganglia disease,UMLS ID:C1843807,Thiamine transporter-2 deficiency | Thiamine metabolism dysfunction syndrome 2 | Biotin-thiamine-responsive basal ganglia disease (disorder) | Biotin-responsive basal ganglia disease | Biotin-thiamine-responsive basal ganglia disease,SNOMEDCT ID:703522009,,,biotin-responsive basal ganglia disease,MONDO:0011841,,,,,,OMIM ID:607483 +BMGC_DS10669,BMG_DS038761,"CARDIOMYOPATHY, DILATED, 1M",UMLS ID:C1843808,,,,,dilated cardiomyopathy 1M,MONDO:0011840,,,,,,OMIM ID:607482 | OMIM ID:600824 +BMGC_DS10670,BMG_DS038762,Newfoundland Rod-Cone Dystrophy,UMLS ID:C1843815,,,,,Newfoundland cone-rod dystrophy,MONDO:0011839,,MeSH ID:C564391,,,,OMIM ID:607476 +BMGC_DS10671,BMG_DS038763,Bothnia Retinal Dystrophy,UMLS ID:C1843816,,,,,Bothnia retinal dystrophy,MONDO:0011838,,MeSH ID:C564392,Bothnia retinal dystrophy,DOID:0050683,,OMIM ID:607475 +BMGC_DS10672,BMG_DS038764,"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",UMLS ID:C1843832,,,,,"vitamin K-dependent clotting factors, combined deficiency of, type 2",MONDO:0011837,,,,,,OMIM ID:607473 | OMIM ID:608547 +BMGC_DS10673,BMG_DS038765,"Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",UMLS ID:C1843851,,,,,"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",MONDO:0011835,,MeSH ID:C537583,"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",DOID:0111276,,OMIM ID:613832 | OMIM ID:607459 +BMGC_DS10674,BMG_DS038766,SPINOCEREBELLAR ATAXIA WITH EPILEPSY,UMLS ID:C1843852,,,,,spinocerebellar ataxia with epilepsy,MONDO:0016809,,,,,,OMIM ID:174763 | OMIM ID:607459 +BMGC_DS10675,BMG_DS038767,SPINOCEREBELLAR ATAXIA 18,UMLS ID:C1843884,,,,,spinocerebellar ataxia type 18,MONDO:0011834,,,spinocerebellar ataxia type 18,DOID:0050969,,OMIM ID:607458 +BMGC_DS10676,BMG_DS038768,GIL BLOOD GROUP,UMLS ID:C1843889,,,,,,,,,,,,OMIM ID:600170 | OMIM ID:607457 +BMGC_DS10677,BMG_DS038769,SPINOCEREBELLAR ATAXIA 21,UMLS ID:C1843891,,,,,spinocerebellar ataxia type 21,MONDO:0011833,,,spinocerebellar ataxia type 21,DOID:0050972,,OMIM ID:607454 | OMIM ID:616101 +BMGC_DS10678,BMG_DS038770,"Deafness, Autosomal Dominant 44",UMLS ID:C1843895,,,,,autosomal dominant nonsyndromic hearing loss 44,MONDO:0011832,,MeSH ID:C564399,,,,OMIM ID:607453 +BMGC_DS10679,BMG_DS038771,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",UMLS ID:C1843896,,,,,arrhythmogenic right ventricular dysplasia 8,MONDO:0011831,,MeSH ID:C564400,,,,OMIM ID:607450 +BMGC_DS10680,BMG_DS038772,,UMLS ID:C1843920,,,,,coenzyme Q10 deficiency,MONDO:0018151,,,,,, +BMGC_DS10681,BMG_DS038773,,UMLS ID:C1843942,,,,,"intellectual disability, autosomal recessive 2",MONDO:0011828,,,,,,OMIM ID:607417 +BMGC_DS10682,BMG_DS038774,"Hypouricemia, Familial Renal, due to Tubular Hypersecretion",UMLS ID:C1843972,,,,,"hypouricemia, familial renal, due to tubular hypersecretion",MONDO:0010620,,MeSH ID:C564405,,,,OMIM ID:307830 +BMGC_DS10683,BMG_DS038775,"Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies",UMLS ID:C1843994,,,,,male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,MONDO:0010617,,MeSH ID:C564406,,,,OMIM ID:307500 +BMGC_DS10684,BMG_DS038778,"Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",UMLS ID:C1844006,,,,,,,,MeSH ID:C564408,,,, +BMGC_DS10685,BMG_DS038779,Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence,UMLS ID:C1844016,,,,,holoprosencephaly-hypokinesia-congenital contractures syndrome,MONDO:0010610,,MeSH ID:C564409,,,,OMIM ID:306990 +BMGC_DS10686,BMG_DS038780,Hirschsprung disease type d brachydactyly,UMLS ID:C1844017,,,,,Hirschsprung disease-type D brachydactyly syndrome,MONDO:0016294,,MeSH ID:C538319,,,,OMIM ID:306980 +BMGC_DS10687,BMG_DS038781,Hhhh Syndrome,UMLS ID:C1844019,,,,,Hhhh syndrome,MONDO:0010608,,MeSH ID:C564411,,,,OMIM ID:306960 +BMGC_DS10688,BMG_DS038782,"HETEROTAXY, VISCERAL, 1, X-LINKED",UMLS ID:C1844020,,,,,"heterotaxy, visceral, 1, X-linked",MONDO:0010607,,,,,,OMIM ID:300265 | OMIM ID:306955 +BMGC_DS10689,BMG_DS038783,,UMLS ID:C1844025,,,,,"hernia, anterior diaphragmatic",MONDO:0010606,,,,,,OMIM ID:306950 +BMGC_DS10690,BMG_DS038784,,UMLS ID:C1844026,,,,,hemopoietic proliferation,MONDO:0010605,,,,,,OMIM ID:306930 +BMGC_DS10691,BMG_DS038787,"Granulomatous Disease, Chronic, X-Linked",UMLS ID:C1844376,,,,,"granulomatous disease, chronic, X-linked",MONDO:0010600,"Granulomatous Disease, Chronic",MeSH ID:D006105,,,,OMIM ID:306400 | OMIM ID:138990 +BMGC_DS10692,BMG_DS038789,"Granulomas, congenital cerebral",UMLS ID:C1844406,,,,,"granulomas, congenital cerebral",MONDO:0010599,,MeSH ID:C537294,,,,OMIM ID:306300 +BMGC_DS10693,BMG_DS038792,"Membranoproliferative Glomerulonephritis, X-Linked",UMLS ID:C1844501,,,,,"membranoproliferative glomerulonephritis, X-linked",MONDO:0010596,,MeSH ID:C564423,,,,OMIM ID:305800 +BMGC_DS10694,BMG_DS038793,Fingerprint Body Myopathy,UMLS ID:C1844560,,,,,fingerprint body myopathy,MONDO:0010591,,MeSH ID:C564425,,,,OMIM ID:305550 +BMGC_DS10695,BMG_DS038795,"Exudative Vitreoretinopathy, Familial, X-Linked Recessive",UMLS ID:C1844579,,,,,"exudative vitreoretinopathy 2, X-linked",MONDO:0010588,,MeSH ID:C564428,,,,OMIM ID:305390 +BMGC_DS10696,BMG_DS038798,X-linked Dyggve-Melchior-Clausen syndrome,UMLS ID:C1844654,,,,,"Dyggve-Melchior-Clausen syndrome, X-linked",MONDO:0010583,,MeSH ID:C535726,,,,OMIM ID:304950 +BMGC_DS10697,BMG_DS038799,Dermoids of cornea,UMLS ID:C1844671,,,,,X-linked corneal dermoid,MONDO:0010579,,MeSH ID:C535376,,,,OMIM ID:304730 +BMGC_DS10698,BMG_DS038801,"Deafness, X-Linked 1",UMLS ID:C1844677,,,,,"hearing loss, X-linked 1",MONDO:0010577,,MeSH ID:C564433,,,,OMIM ID:304500 +BMGC_DS10699,BMG_DS038802,Progressive hearing loss stapes fixation,UMLS ID:C1844678,,,,,X-linked mixed hearing loss with perilymphatic gusher,MONDO:0010576,,MeSH ID:C536424,,,,OMIM ID:304400 +BMGC_DS10700,BMG_DS038804,"OTOPALATODIGITAL SYNDROME, TYPE II",UMLS ID:C1844696,,,,,otopalatodigital syndrome type 2,MONDO:0010571,,,otopalatodigital syndrome type 2,DOID:0111784,,OMIM ID:300017 | OMIM ID:304120 +BMGC_DS10701,BMG_DS038806,"CONE-ROD DYSTROPHY, X-LINKED, 1",UMLS ID:C1844776,,,,,X-linked cone-rod dystrophy 1,MONDO:0010566,,,X-linked cone-rod dystrophy 1,DOID:0111008,,OMIM ID:304020 | OMIM ID:312610 +BMGC_DS10702,BMG_DS038807,"CONE DYSTROPHY, X-LINKED, 1",UMLS ID:C1844777,,,,,"cone dystrophy 1, X-linked",MONDO:0800320,,,,,,OMIM ID:312610 +BMGC_DS10703,BMG_DS038808,"CLEFT PALATE, X-LINKED",UMLS ID:C1844830,,,,,"cleft palate with or without ankyloglossia, X-linked",MONDO:0010560,,,,,,OMIM ID:300307 | OMIM ID:303400 +BMGC_DS10704,BMG_DS038809,Cleft Palate with Ankyloglossia,UMLS ID:C1844831,,,,,,,,MeSH ID:C564442,,,, +BMGC_DS10705,BMG_DS038810,Ayazi syndrome,UMLS ID:C1844836,Choroideremia with deafness and obesity syndrome (disorder) | Choroideremia with deafness and obesity syndrome | Choroideraemia with deafness and obesity syndrome | Ayazi syndrome | Xq21 microdeletion syndrome,SNOMEDCT ID:717761005,,,,,,MeSH ID:C537793,,,, +BMGC_DS10706,BMG_DS038811,Brachytelephalangic Chondrodysplasia Punctata,UMLS ID:C1844853,,,,,"chondrodysplasia punctata, brachytelephalangic, autosomal",MONDO:0011238,,MeSH ID:C000705207,,,,OMIM ID:602497 +BMGC_DS10707,BMG_DS038812,Abruzzo Erickson syndrome,UMLS ID:C1844862,Abruzzo Erickson syndrome | CHARGE-like syndrome | Cleft palate with coloboma of eye and deafness syndrome (disorder) | Cleft palate with coloboma of eye and deafness syndrome,SNOMEDCT ID:718574003,,,Abruzzo-Erickson syndrome,MONDO:0010554,,MeSH ID:C535559,Abruzzo-Erickson syndrome,DOID:0111826,,OMIM ID:302905 +BMGC_DS10708,BMG_DS038814,Charcot Marie Tooth type 1 aplasia cutis congenita,UMLS ID:C1844864,,,,,"Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita",MONDO:0010552,,MeSH ID:C538077,,,,OMIM ID:302803 +BMGC_DS10709,BMG_DS038815,"Charcot-Marie-Tooth disease, X-linked recessive, 3",UMLS ID:C1844865,,,,,Charcot-Marie-Tooth disease X-linked recessive 3,MONDO:0010551,,MeSH ID:C535303,Charcot-Marie-Tooth disease X-linked recessive 3,DOID:0110211,,OMIM ID:302802 +BMGC_DS10710,BMG_DS038816,"Charcot-Marie-Tooth disease, X-linked recessive, 2",UMLS ID:C1844873,,,,,Charcot-Marie-Tooth disease X-linked recessive 2,MONDO:0010550,,MeSH ID:C535302,Charcot-Marie-Tooth disease X-linked recessive 2,DOID:0110208,,OMIM ID:302801 +BMGC_DS10711,BMG_DS038817,"Cerebral Sclerosis, Diffuse, Scholz Type",UMLS ID:C1844884,,,,,"cerebral sclerosis, diffuse, scholz type",MONDO:0060456,,MeSH ID:C564449,,,,OMIM ID:302700 +BMGC_DS10712,BMG_DS038818,"SPINOCEREBELLAR ATAXIA, X-LINKED 2",UMLS ID:C1844885,,,,,"spinocerebellar ataxia, X-linked 2",MONDO:0010548,,,X-linked spinocerebellar ataxia 2,DOID:0111830,,OMIM ID:302600 +BMGC_DS10713,BMG_DS038819,,UMLS ID:C1844886,,,,,"central incisors, absence of",MONDO:0010546,,,,,,OMIM ID:302400 +BMGC_DS10714,BMG_DS038820,Catel Manzke syndrome,UMLS ID:C1844887,Catel Manzke syndrome (disorder) | Catel Manzke syndrome | Micrognathia digital syndrome | Palatodigital syndrome Catel-Manzke type,SNOMEDCT ID:722383001,,,Catel-Manzke syndrome,MONDO:0014507,,MeSH ID:C535347,Catel Manzke syndrome,DOID:0081122,,OMIM ID:302380 | OMIM ID:616145 +BMGC_DS10715,BMG_DS038823,Branchial arch syndrome X-linked,UMLS ID:C1844918,,,,,X-linked mandibulofacial dysostosis,MONDO:0010539,,MeSH ID:C537102,,,,OMIM ID:301950 +BMGC_DS10716,BMG_DS038826,"Arthrogryposis multiplex congenita, distal, X-linked",UMLS ID:C1844934,,,,,infantile-onset X-linked spinal muscular atrophy,MONDO:0010532,,MeSH ID:C535380,X-linked spinal muscular atrophy 2,DOID:0111827,,OMIM ID:301830 +BMGC_DS10717,BMG_DS038829,Microphthalmia with ankyloblepharon and intellectual disability syndrome,UMLS ID:C1844948,Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) | Microphthalmia with ankyloblepharon and intellectual disability syndrome | Syndromic microphthalmia type 4,SNOMEDCT ID:717222003,,,,,,,syndromic microphthalmia 1,DOID:0111799,, +BMGC_DS10718,BMG_DS038830,Neural tube defects X-linked,UMLS ID:C1845026,,,,,"neural tube defects, X-linked",MONDO:0010525,,MeSH ID:C536410,,,,OMIM ID:301410 +BMGC_DS10719,BMG_DS038832,"ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA",UMLS ID:C1845028,,,,,X-linked sideroblastic anemia with ataxia,MONDO:0010524,,,X-linked sideroblastic anemia with ataxia,DOID:0050554,,OMIM ID:301310 +BMGC_DS10720,BMG_DS038833,,UMLS ID:C1845050,,,,,X-linked reticulate pigmentary disorder,MONDO:0010523,,,X-linked reticulate pigmentary disorder,DOID:0111834,,OMIM ID:301220 +BMGC_DS10721,BMG_DS038834,"AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2",UMLS ID:C1845051,,,,,X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2,MONDO:0010522,,,,,,OMIM ID:301201 +BMGC_DS10722,BMG_DS038835,"AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",UMLS ID:C1845052,,,,,,,,,,,,OMIM ID:301200 +BMGC_DS10723,BMG_DS038836,"Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",UMLS ID:C1845053,,,,,amelogenesis imperfecta type 1E,MONDO:0010521,,MeSH ID:C564463,,,,OMIM ID:301200 +BMGC_DS10724,BMG_DS038837,Alpha thalassemia X-linked intellectual disability syndrome,UMLS ID:C1845055,Alpha thalassemia X-linked intellectual disability syndrome (disorder) | Alpha thalassemia X-linked intellectual disability syndrome | Alpha thalassaemia X-linked intellectual disability syndrome | Alpha thalassemia X-linked intellectual deficit | Alpha thalassaemia X-linked intellectual deficit,SNOMEDCT ID:715342005,,,alpha thalassemia-X-linked intellectual disability syndrome,MONDO:0010519,,,,,,OMIM ID:301040 +BMGC_DS10725,BMG_DS038838,ALBINISM-DEAFNESS SYNDROME,UMLS ID:C1845068,,,,,albinism-hearing loss syndrome,MONDO:0010403,,,,,,OMIM ID:300700 +BMGC_DS10726,BMG_DS038839,Ocular albinism with late-onset sensorineural deafness,UMLS ID:C1845069,Ocular albinism with late-onset sensorineural deafness (disorder) | Ocular albinism with late-onset sensorineural deafness,SNOMEDCT ID:722054007,,,ocular albinism with late-onset sensorineural deafness,MONDO:0010390,,,,,,OMIM ID:300650 +BMGC_DS10727,BMG_DS038840,"Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked",UMLS ID:C1845070,,,,,"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked",MONDO:0010388,,MeSH ID:C564467,,,,OMIM ID:300643 +BMGC_DS10728,BMG_DS038841,"Invasive Pneumococcal Disease, Recurrent Isolated, 2",UMLS ID:C1845073,,,,,,,,MeSH ID:C564468,,,, +BMGC_DS10729,BMG_DS038842,"Lymphoproliferative Syndrome, X-Linked, 2",UMLS ID:C1845076,,,,,X-linked lymphoproliferative disease due to XIAP deficiency,MONDO:0010385,,MeSH ID:C564469,,,,OMIM ID:300635 +BMGC_DS10730,BMG_DS038843,"Cataracts, ataxia, short stature, and mental retardation",UMLS ID:C1845094,,,,,"cataract, ataxia, short stature, and intellectual disability",MONDO:0010380,,MeSH ID:C535345,,,,OMIM ID:300619 +BMGC_DS10731,BMG_DS038844,"Deafness, X-Linked 5",UMLS ID:C1845095,,,,,,,,MeSH ID:C564472,,,, +BMGC_DS10732,BMG_DS038846,Hyperekplexia and Epilepsy,UMLS ID:C1845102,,,,,"developmental and epileptic encephalopathy, 8",MONDO:0010375,,MeSH ID:C564474,,,,OMIM ID:300607 +BMGC_DS10733,BMG_DS038847,Retinitis Pigmentosa 34,UMLS ID:C1845104,,,,,retinitis pigmentosa 34,MONDO:0010374,,MeSH ID:C564475,retinitis pigmentosa 34,DOID:0110417,,OMIM ID:300605 +BMGC_DS10734,BMG_DS038848,Premature Ovarian Failure 2b,UMLS ID:C1845105,,,,,premature ovarian failure 2B,MONDO:0010373,,MeSH ID:C564476,,,,OMIM ID:300604 +BMGC_DS10735,BMG_DS038849,"Nystagmus 5, Infantile Periodic Alternating",UMLS ID:C1845116,,,,,"nystagmus 5, congenital, X-linked",MONDO:0010369,,MeSH ID:C564478,,,,OMIM ID:300589 +BMGC_DS10736,BMG_DS038851,,UMLS ID:C1845118,,,,,SHOX-related short stature,MONDO:0010367,,,,,,OMIM ID:300582 +BMGC_DS10737,BMG_DS038852,Fg Syndrome 5,UMLS ID:C1845119,,,,,FG syndrome 5,MONDO:0010366,,MeSH ID:C564480,,,,OMIM ID:300581 +BMGC_DS10738,BMG_DS038853,Chromosome Xp11.3 Deletion Syndrome,UMLS ID:C1845136,,,,,X-linked intellectual disability-retinitis pigmentosa syndrome,MONDO:0010364,,MeSH ID:C564481,,,,OMIM ID:300578 +BMGC_DS10739,BMG_DS038854,,UMLS ID:C1845142,,,,,"intellectual disability, X-linked 91",MONDO:0010363,,,,,,OMIM ID:300577 +BMGC_DS10740,BMG_DS038855,,UMLS ID:C1845144,,,,,"intellectual disability, X-linked 92",MONDO:0010453,,,,,,OMIM ID:300851 +BMGC_DS10741,BMG_DS038856,,UMLS ID:C1845146,,,,,Hartsfield-Bixler-Demyer syndrome,MONDO:0014196,,,,,,OMIM ID:615465 +BMGC_DS10742,BMG_DS038857,"Glycogen Storage Disease, Type IXD",UMLS ID:C1845151,,,,,glycogen storage disease IXd,MONDO:0010362,,MeSH ID:C564485,,,,OMIM ID:300559 +BMGC_DS10743,BMG_DS038859,Dent Disease 2,UMLS ID:C1845167,,,,,Dent disease type 2,MONDO:0010359,,MeSH ID:C564487,Dent disease 2,DOID:0081454,,OMIM ID:300555 +BMGC_DS10744,BMG_DS038860,"Hypophosphatemic Rickets, X-Linked Recessive",UMLS ID:C1845168,,,,,"hypophosphatemic rickets, X-linked recessive",MONDO:0010358,Familial Hypophosphatemic Rickets,MeSH ID:D053098,X-linked dominant hypophosphatemic rickets,DOID:0050445,,OMIM ID:300554 +BMGC_DS10745,BMG_DS038861,Nephrogenic Syndrome of Inappropriate Antidiuresis,UMLS ID:C1845202,,,,,nephrogenic syndrome of inappropriate antidiuresis,MONDO:0010356,,MeSH ID:C564491,nephrogenic syndrome of inappropriate antidiuresis,DOID:0112121,,OMIM ID:300539 +BMGC_DS10746,BMG_DS038863,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE",UMLS ID:C1845243,,,,,syndromic X-linked intellectual disability Claes-Jensen type,MONDO:0010355,,,,,,OMIM ID:314690 | OMIM ID:300534 +BMGC_DS10747,BMG_DS038864,Martin-Probst Deafness-Mental Retardation Syndrome,UMLS ID:C1845285,,,,,"deafness-intellectual disability, Martin-Probst type syndrome",MONDO:0010353,,MeSH ID:C564495,,,,OMIM ID:300519 +BMGC_DS10748,BMG_DS038865,,UMLS ID:C1845286,,,,,"intellectual disability, X-linked 82",MONDO:0010352,,,,,,OMIM ID:300518 +BMGC_DS10749,BMG_DS038866,"FANCONI ANEMIA, COMPLEMENTATION GROUP B",UMLS ID:C1845292,,,,,Fanconi anemia complementation group B,MONDO:0010351,,,Fanconi anemia complementation group B,DOID:0111098,,OMIM ID:300514 | OMIM ID:300515 +BMGC_DS10750,BMG_DS038867,Premature Ovarian Failure 2a,UMLS ID:C1845293,,,,,premature ovarian failure 2A,MONDO:0010350,,MeSH ID:C564498,,,,OMIM ID:300511 +BMGC_DS10751,BMG_DS038868,Ovarian Dysgenesis 2,UMLS ID:C1845294,,,,,ovarian dysgenesis 2,MONDO:0010349,,MeSH ID:C564499,ovarian dysgenesis 2,DOID:0080494,,OMIM ID:300510 +BMGC_DS10752,BMG_DS038869,Premature Ovarian Failure 4,UMLS ID:C1845295,,,,,premature ovarian failure 4,MONDO:0800317,,MeSH ID:C564499,ovarian dysgenesis 2,DOID:0080494,, +BMGC_DS10753,BMG_DS038871,,UMLS ID:C1845297,,,,,"intellectual disability, X-linked 84",MONDO:0010347,,,,,,OMIM ID:300505 +BMGC_DS10754,BMG_DS038872,,UMLS ID:C1845333,,,,,"intellectual disability, X-linked 45",MONDO:0010344,,,,,,OMIM ID:300498 +BMGC_DS10755,BMG_DS038873,,UMLS ID:C1845336,,,,,"autism, susceptibility to, X-linked 3",MONDO:0010342,,,,,,OMIM ID:300496 +BMGC_DS10756,BMG_DS038874,"Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders",UMLS ID:C1845343,,,,,,,,MeSH ID:C564505,X-linked epilepsy with variable learning disabilities and behavior disorders,DOID:0112122,, +BMGC_DS10757,BMG_DS038875,"Spinal Muscular Atrophy, Distal, X-Linked 3",UMLS ID:C1845359,,,,,X-linked distal spinal muscular atrophy type 3,MONDO:0010338,,MeSH ID:C564506,X-linked distal spinal muscular atrophy 3,DOID:0111196,,OMIM ID:300489 +BMGC_DS10758,BMG_DS038876,"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance",UMLS ID:C1845366,,,,,X-linked intellectual disability-cerebellar hypoplasia syndrome,MONDO:0010337,,MeSH ID:C537456,,,,OMIM ID:300486 +BMGC_DS10759,BMG_DS038878,"CONE-ROD DYSTROPHY, X-LINKED, 3",UMLS ID:C1845407,,,,,X-linked cone-rod dystrophy 3,MONDO:0010335,,,X-linked cone-rod dystrophy 3,DOID:0111007,,OMIM ID:300110 | OMIM ID:300476 +BMGC_DS10760,BMG_DS038879,"Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia",UMLS ID:C1845446,,,,,corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,MONDO:0010333,,MeSH ID:C564509,,,,OMIM ID:300472 +BMGC_DS10761,BMG_DS038882,,UMLS ID:C1845499,,,,,"intellectual disability, X-linked 77",MONDO:0010329,,,,,,OMIM ID:300454 +BMGC_DS10762,BMG_DS038883,,UMLS ID:C1845526,,,,,"intellectual disability, X-linked 46",MONDO:0010326,,,,,,OMIM ID:300436 +BMGC_DS10763,BMG_DS038884,Stocco dos Santos syndrome,UMLS ID:C1845530,,,,,"X-linked intellectual disability, Stocco dos Santos type",MONDO:0010325,,MeSH ID:C537495,,,,OMIM ID:300434 +BMGC_DS10764,BMG_DS038885,,UMLS ID:C1845531,,,,,"intellectual disability, X-linked 81",MONDO:0010324,,,,,,OMIM ID:300433 +BMGC_DS10765,BMG_DS038886,,UMLS ID:C1845539,,,,,"autism, susceptibility to, X-linked 2",MONDO:0010341,,,,,,OMIM ID:300495 +BMGC_DS10766,BMG_DS038887,,UMLS ID:C1845540,,,,,"autism, susceptibility to, X-linked 1",MONDO:0010321,,,,,,OMIM ID:300425 +BMGC_DS10767,BMG_DS038888,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE",UMLS ID:C1845543,,,,,syndromic X-linked intellectual disability Hedera type,MONDO:0010319,,,syndromic X-linked intellectual disability Hedera type,DOID:0060806,,OMIM ID:300556 | OMIM ID:300423 +BMGC_DS10768,BMG_DS038889,FG syndrome 4,UMLS ID:C1845546,,,,,FG syndrome 4,MONDO:0010318,,MeSH ID:C537923,,,,OMIM ID:300422 +BMGC_DS10769,BMG_DS038890,FG SYNDROME 3,UMLS ID:C1845567,,,,,FG syndrome 3,MONDO:0010316,,,,,,OMIM ID:300406 +BMGC_DS10770,BMG_DS038894,RETINITIS PIGMENTOSA 3,UMLS ID:C1845667,,,,,retinitis pigmentosa 3,MONDO:0010227,,,,,,OMIM ID:312610 | OMIM ID:300029 +BMGC_DS10771,BMG_DS038895,Perisylvian syndrome,UMLS ID:C1845668,,,,,bilateral perisylvian polymicrogyria,MONDO:0020340,,MeSH ID:C536658,,,, +BMGC_DS10772,BMG_DS038896,,UMLS ID:C1845672,,,,,"intellectual disability, X-linked 63",MONDO:0010313,,,,,,OMIM ID:300387 +BMGC_DS10773,BMG_DS038899,Dyserythropoietic Anemia with Thrombocytopenia,UMLS ID:C1845837,,,,,GATA1-Related X-Linked Cytopenia,MONDO:0100089,,MeSH ID:C564525,,,, +BMGC_DS10774,BMG_DS038902,,UMLS ID:C1845860,,,,,"intellectual disability, X-linked 73",MONDO:0010307,,,,,,OMIM ID:300355 +BMGC_DS10775,BMG_DS038903,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE",UMLS ID:C1845861,,,,,"X-linked intellectual disability, Cabezas type",MONDO:0010306,,,,,,OMIM ID:300304 | OMIM ID:300354 +BMGC_DS10776,BMG_DS038904,"Creatine deficiency, X-linked",UMLS ID:C1845862,,,,,creatine transporter deficiency,MONDO:0010305,,MeSH ID:C535598,,,,OMIM ID:300352 +BMGC_DS10777,BMG_DS038906,,UMLS ID:C1845889,,,,,"intellectual disability, X-linked 53",MONDO:0010300,,,,,,OMIM ID:300324 +BMGC_DS10778,BMG_DS038907,"Lesch-Nyhan Syndrome, Neurologic Variant",UMLS ID:C1845892,,,,,,,,MeSH ID:C564535,,,, +BMGC_DS10779,BMG_DS038908,FG SYNDROME 2,UMLS ID:C1845902,,,,,FG syndrome 2,MONDO:0010297,,,,,,OMIM ID:300017 | OMIM ID:300321 +BMGC_DS10780,BMG_DS038909,"Agammaglobulinemia, X-linked, type 2",UMLS ID:C1845903,,,,,immunodeficiency 61,MONDO:0010296,,MeSH ID:C538057,immunodeficiency 61,DOID:0111999,,OMIM ID:300310 +BMGC_DS10781,BMG_DS038911,"Neutropenia, Severe Congenital, X-Linked",UMLS ID:C1845987,,,,,X-linked severe congenital neutropenia,MONDO:0010294,,MeSH ID:C564539,X-linked severe congenital neutropenia,DOID:0112128,,OMIM ID:300299 +BMGC_DS10782,BMG_DS038912,"Ectodermal dysplasia, hypohidrotic, with immune deficiency",UMLS ID:C1846006,,,,,ectodermal dysplasia and immune deficiency,MONDO:0010293,,MeSH ID:C536181,,,, +BMGC_DS10783,BMG_DS038913,,UMLS ID:C1846008,,,,,ectodermal dysplasia and immunodeficiency 1,MONDO:0020740,,,,,,OMIM ID:300291 +BMGC_DS10784,BMG_DS038914,"Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome",UMLS ID:C1846009,"Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome | Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) | IMAGe syndrome",SNOMEDCT ID:702384004,,,IMAGe syndrome,MONDO:0013873,,,,,,OMIM ID:614732 +BMGC_DS10785,BMG_DS038915,URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME,UMLS ID:C1846010,,,,,Uruguay Faciocardiomusculoskeletal syndrome,MONDO:0010292,,,,,,OMIM ID:300163 | OMIM ID:300280 +BMGC_DS10786,BMG_DS038917,"Goiter, Multinodular 2",UMLS ID:C1846033,,,,,"goiter, multinodular 2",MONDO:0010290,,MeSH ID:C564546,,,,OMIM ID:300273 +BMGC_DS10787,BMG_DS038919,,UMLS ID:C1846038,,,,,"intellectual disability, X-linked 72",MONDO:0010289,,,,,,OMIM ID:300271 +BMGC_DS10788,BMG_DS038921,"Spastic paraplegia 16, X-linked",UMLS ID:C1846046,,,,,hereditary spastic paraplegia 16,MONDO:0010287,,MeSH ID:C536643,,,,OMIM ID:300266 +BMGC_DS10789,BMG_DS038922,Siderius X-linked mental retardation syndrome,UMLS ID:C1846055,,,,,syndromic X-linked intellectual disability Siderius type,MONDO:0010286,,MeSH ID:C537333,syndromic X-linked intellectual disability Siderius type,DOID:0060812,,OMIM ID:300263 +BMGC_DS10790,BMG_DS038923,Abidi X-linked mental retardation syndrome,UMLS ID:C1846056,,,,,syndromic X-linked intellectual disability Abidi type,MONDO:0010285,,MeSH ID:C535556,syndromic X-linked intellectual disability Abidi type,DOID:0060818,,OMIM ID:300262 +BMGC_DS10791,BMG_DS038924,Armfield X-Linked Mental Retardation Syndrome,UMLS ID:C1846057,,,,,Armfield syndrome,MONDO:0010284,,MeSH ID:C564551,,,,OMIM ID:300261 +BMGC_DS10792,BMG_DS038925,Lubs X-linked mental retardation syndrome,UMLS ID:C1846058,Methyl-CpG (cytosine phosphate guanine) binding protein-2 duplication syndrome | MECP2 duplication syndrome | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) | Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome | Lubs X-linked mental retardation syndrome | Lubs X-linked intellectual disability syndrome | Proximal Xq28 duplication syndrome,SNOMEDCT ID:702816000,,,syndromic X-linked intellectual disability Lubs type,MONDO:0010283,,MeSH ID:C537723,syndromic X-linked intellectual disability Lubs type,DOID:0060799,,OMIM ID:300260 +BMGC_DS10793,BMG_DS038926,Roifman syndrome,UMLS ID:C1846059,"Roifman syndrome (disorder) | Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome | Roifman syndrome",SNOMEDCT ID:773404000,,,Roifman syndrome,MONDO:0014722,,MeSH ID:C535866,,,,OMIM ID:616651 | OMIM ID:300258 +BMGC_DS10794,BMG_DS038927,"Ptosis, Hereditary Congenital 2",UMLS ID:C1846128,,,,,"ptosis, hereditary congenital 2",MONDO:0010280,,MeSH ID:C564553,,,,OMIM ID:300245 +BMGC_DS10795,BMG_DS038928,Terminal Osseous Dysplasia and Pigmentary Defects,UMLS ID:C1846129,,,,,terminal osseous dysplasia-pigmentary defects syndrome,MONDO:0010279,,MeSH ID:C564554,terminal osseous dysplasia,DOID:0112149,,OMIM ID:300244 +BMGC_DS10796,BMG_DS038929,"Mental retardation X-linked, South African type",UMLS ID:C1846130,,,,,,,,MeSH ID:C537450,Christianson syndrome,DOID:0060825,, +BMGC_DS10797,BMG_DS038930,HOYERAAL-HREIDARSSON SYNDROME,UMLS ID:C1846142,,,,,Hoyeraal-Hreidarsson syndrome,MONDO:0018045,,,X-linked dyskeratosis congenita,DOID:0070025,,OMIM ID:305000 +BMGC_DS10798,BMG_DS038931,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11",UMLS ID:C1846145,,,,,syndromic X-linked intellectual disability Shashi type,MONDO:0010277,,,,,,OMIM ID:300238 +BMGC_DS10799,BMG_DS038933,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY",UMLS ID:C1846148,,,,,"spondyloepimetaphyseal dysplasia, Bieganski type",MONDO:0010275,,,,,,OMIM ID:300232 | OMIM ID:300169 +BMGC_DS10800,BMG_DS038934,,UMLS ID:C1846164,,,,,testicular germ cell tumor 1,MONDO:0010274,,,,,,OMIM ID:300228 +BMGC_DS10801,BMG_DS038936,Myotubular Myopathy with Abnormal Genital Development,UMLS ID:C1846169,,,,,X-linked myotubular myopathy-abnormal genitalia syndrome,MONDO:0010271,,MeSH ID:C564561,,,,OMIM ID:300219 +BMGC_DS10802,BMG_DS038937,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 7",UMLS ID:C1846170,,,,,syndromic X-linked intellectual disability 7,MONDO:0010270,,,syndromic X-linked intellectual disability 7,DOID:0060808,,OMIM ID:300218 +BMGC_DS10803,BMG_DS038938,"Lissencephaly, X-Linked, 2",UMLS ID:C1846171,,,,,X-linked lissencephaly with abnormal genitalia,MONDO:0010268,,MeSH ID:C564563,,,,OMIM ID:300215 +BMGC_DS10804,BMG_DS038939,Hydranencephaly and Abnormal Genitalia,UMLS ID:C1846172,,,,,,,,MeSH ID:C564563,,,, +BMGC_DS10805,BMG_DS038940,"EPISODIC MUSCLE WEAKNESS, X-LINKED",UMLS ID:C1846173,,,,,"episodic muscle weakness, X-linked",MONDO:0010267,,,,,,OMIM ID:300211 +BMGC_DS10806,BMG_DS038941,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58",UMLS ID:C1846174,,,,,"intellectual disability, X-linked 58",MONDO:0010266,,,non-syndromic X-linked intellectual disability 58,DOID:0112024,,OMIM ID:300210 | OMIM ID:300096 +BMGC_DS10807,BMG_DS038942,Simpson Golabi Behmel syndrome type 2,UMLS ID:C1846175,Simpson Golabi Behmel syndrome type 2 (disorder) | Simpson Golabi Behmel syndrome type 2 | Lethal variant of Simpson Golabi Behmel syndrome,SNOMEDCT ID:723625009,,,Simpson-Golabi-Behmel syndrome type 2,MONDO:0010265,,,,,,OMIM ID:300209 +BMGC_DS10808,BMG_DS038944,"Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",UMLS ID:C1846242,,,,,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,MONDO:0010263,,MeSH ID:C564570,AMME complex,DOID:0111860,,OMIM ID:300194 +BMGC_DS10809,BMG_DS038947,"Microphthalmia, syndromic 2",UMLS ID:C1846265,,,,,"microphthalmia, syndromic 2",MONDO:0010261,,MeSH ID:C537465,syndromic microphthalmia 2,DOID:0111809,,OMIM ID:300166 +BMGC_DS10810,BMG_DS038948,"ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED",UMLS ID:C1846273,,,,,"arthrogryposis, congenital, lower limb, X-linked",MONDO:0010260,,,,,,OMIM ID:300158 +BMGC_DS10811,BMG_DS038949,MEHMO syndrome,UMLS ID:C1846278,"Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome | MEHMO syndrome | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) | Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome | X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome",SNOMEDCT ID:722037004,,,MEHMO syndrome,MONDO:0010258,,MeSH ID:C537451,MEHMO syndrome,DOID:0060801,,OMIM ID:300987 | OMIM ID:300148 +BMGC_DS10812,BMG_DS038950,,UMLS ID:C1846279,,,,,"prostate cancer, hereditary, X-linked 1",MONDO:0010257,,,,,,OMIM ID:300147 +BMGC_DS10813,BMG_DS038952,Juvenile-onset dystonia,UMLS ID:C1846331,,,,,,,,MeSH ID:C537704,,,, +BMGC_DS10814,BMG_DS038953,"Bartter syndrome, type 3",UMLS ID:C1846343,,,,,Bartter disease type 3,MONDO:0011822,,MeSH ID:C537653,,,,OMIM ID:607364 +BMGC_DS10815,BMG_DS038954,"Bartter Syndrome, Type 3, with Hypocalciuria",UMLS ID:C1846344,,,,,,,,MeSH ID:C564578,,,, +BMGC_DS10816,BMG_DS038955,Meckel syndrome type 3,UMLS ID:C1846357,,,,,"Meckel syndrome, type 3",MONDO:0011821,,MeSH ID:C536132,,,,OMIM ID:607361 +BMGC_DS10817,BMG_DS038957,Spinocerebellar ataxia 19,UMLS ID:C1846367,,,,,spinocerebellar ataxia type 19/22,MONDO:0011819,,MeSH ID:C537198,,,,OMIM ID:607346 +BMGC_DS10818,BMG_DS038958,,UMLS ID:C1846385,,,,,isolated focal cortical dysplasia type II,MONDO:0011818,,,,,,OMIM ID:607341 +BMGC_DS10819,BMG_DS038959,"Focal Cortical Dysplasia of Taylor, Type IIa",UMLS ID:C1846386,,,,,isolated focal cortical dysplasia type IIa,MONDO:0017101,,MeSH ID:C537067,,,, +BMGC_DS10820,BMG_DS038960,"CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY",UMLS ID:C1846388,,,,,,,,,,,,OMIM ID:607341 +BMGC_DS10821,BMG_DS038961,"Focal Cortical Dysplasia of Taylor, Type IIb",UMLS ID:C1846389,,,,,,,,MeSH ID:C537067,,,, +BMGC_DS10822,BMG_DS038962,"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1",UMLS ID:C1846418,,,,,"coronary heart disease, susceptibility to, 1",MONDO:0011817,,,,,,OMIM ID:607339 +BMGC_DS10823,BMG_DS038963,Lathosterolosis,UMLS ID:C1846421,Lathosterolosis (disorder) | Lathosterolosis | Sterol C5 desaturase deficiency,SNOMEDCT ID:719257008,,,lathosterolosis,MONDO:0011816,,MeSH ID:C537880,,,,OMIM ID:607330 +BMGC_DS10824,BMG_DS038965,,UMLS ID:C1846431,,,,,Smith-McCort dysplasia,MONDO:0015799,,,Smith-McCort dysplasia,DOID:0060247,, +BMGC_DS10825,BMG_DS038966,,UMLS ID:C1846439,,,,,odontoid hypoplasia,MONDO:0013333,,,,,,OMIM ID:613628 +BMGC_DS10826,BMG_DS038968,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4",UMLS ID:C1846492,,,,,autosomal recessive cerebellar ataxia-saccadic intrusion syndrome,MONDO:0011811,,,autosomal recessive spinocerebellar ataxia 4,DOID:0111611,,OMIM ID:607317 | OMIM ID:608877 +BMGC_DS10827,BMG_DS038969,Horizontal gaze palsy with progressive scoliosis,UMLS ID:C1846496,Horizontal gaze palsy with progressive scoliosis | Horizontal gaze palsy with progressive scoliosis (disorder) | HGPPS - horizontal gaze palsy with progressive scoliosis | Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze,SNOMEDCT ID:702381007,,,,,,,,,, +BMGC_DS10828,BMG_DS038970,,UMLS ID:C1846520,,,,,cataract 27,MONDO:0011808,,,,,,OMIM ID:607304 +BMGC_DS10829,BMG_DS038971,CONE-ROD DYSTROPHY 10,UMLS ID:C1846529,,,,,cone-rod dystrophy 10,MONDO:0012464,,,,,,OMIM ID:607292 | OMIM ID:610283 +BMGC_DS10830,BMG_DS038973,"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1",UMLS ID:C1846534,,,,,"asthma-related traits, susceptibility to, 1",MONDO:0011805,,,,,,OMIM ID:607277 +BMGC_DS10831,BMG_DS038974,Autoimmune Lymphoproliferative Syndrome Type 2B,UMLS ID:C1846545,,,,,autoimmune lymphoproliferative syndrome | autoimmune lymphoproliferative syndrome type 2B,MONDO:0017979;MONDO:0011804,Autoimmune Lymphoproliferative Syndrome,MeSH ID:D056735,,,,OMIM ID:607271 +BMGC_DS10832,BMG_DS038975,"SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",UMLS ID:C1846564,,,,,hereditary spastic paraplegia 7,MONDO:0011803,,,,,,OMIM ID:607259 | OMIM ID:602783 +BMGC_DS10833,BMG_DS038978,"DEAFNESS, AUTOSOMAL RECESSIVE 33",UMLS ID:C1846576,,,,,autosomal recessive nonsyndromic hearing loss 33,MONDO:0011799,,,,,,OMIM ID:607239 +BMGC_DS10834,BMG_DS038979,"Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",UMLS ID:C1846582,,,,,"hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration",MONDO:0011798,,MeSH ID:C564603,,,,OMIM ID:607236 +BMGC_DS10835,BMG_DS038983,Thyroid Dyshormonogenesis 6,UMLS ID:C1846632,,,,,thyroid dyshormonogenesis 6,MONDO:0011792,,MeSH ID:C564608,thyroid dyshormonogenesis 6,DOID:0112189,,OMIM ID:607200 +BMGC_DS10836,BMG_DS038984,"Deafness, Autosomal Recessive",UMLS ID:C1846647,,,,,"hearing loss, autosomal recessive",MONDO:0019588,,MeSH ID:C564609,,,,OMIM ID:607197 +BMGC_DS10837,BMG_DS038985,Amish lethal microcephaly,UMLS ID:C1846648,Amish lethal microcephaly (disorder) | Amish microcephaly | Amish lethal microcephaly,SNOMEDCT ID:702437000,,,Amish lethal microcephaly,MONDO:0011790,,MeSH ID:C538247,,,,OMIM ID:607196 +BMGC_DS10838,BMG_DS038987,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",UMLS ID:C1846672,,,,,autosomal recessive limb-girdle muscular dystrophy type 2I,MONDO:0011787,,,,,,OMIM ID:607155 +BMGC_DS10839,BMG_DS038988,"Spastic paraplegia 19, autosomal dominant",UMLS ID:C1846685,,,,,hereditary spastic paraplegia 19,MONDO:0011785,,MeSH ID:C536856,,,,OMIM ID:607152 +BMGC_DS10840,BMG_DS038989,MOYAMOYA DISEASE 2,UMLS ID:C1846689,,,,,Moyamoya disease 2,MONDO:0011784,,,,,,OMIM ID:607151 +BMGC_DS10841,BMG_DS038990,SPINOCEREBELLAR ATAXIA 17,UMLS ID:C1846707,,,,,spinocerebellar ataxia type 17,MONDO:0011781,,,spinocerebellar ataxia type 17,DOID:0050967,,OMIM ID:607136 | OMIM ID:164700 | OMIM ID:213100 | OMIM ID:607136 | OMIM ID:600075 +BMGC_DS10842,BMG_DS038991,SPECIFIC LANGUAGE IMPAIRMENT 3,UMLS ID:C1846719,,,,,specific language impairment 3,MONDO:0011780,,,,,,OMIM ID:607134 +BMGC_DS10843,BMG_DS038993,Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies,UMLS ID:C1846722,,,,,"multiple epiphyseal dysplasia, Al-Gazali type",MONDO:0011778,,MeSH ID:C564621,,,,OMIM ID:607131 +BMGC_DS10844,BMG_DS038995,,UMLS ID:C1846758,,,,,"nasopharyngeal carcinoma, susceptibility to, 1",MONDO:0011775,,,,,,OMIM ID:607107 +BMGC_DS10845,BMG_DS038996,"Deafness, Autosomal Recessive 30",UMLS ID:C1846784,,,,,autosomal recessive nonsyndromic hearing loss 30,MONDO:0011774,,MeSH ID:C564624,,,,OMIM ID:607101 +BMGC_DS10846,BMG_DS038997,Joubert syndrome 4,UMLS ID:C1846790,,,,,Joubert syndrome with renal defect,MONDO:0012308,,MeSH ID:C536296,Joubert syndrome 4,DOID:0110999,,OMIM ID:609583 +BMGC_DS10847,BMG_DS038998,Anauxetic dysplasia,UMLS ID:C1846796,Anauxetic dysplasia | Spondyloepimetaphyseal dysplasia anauxetic type (disorder) | Spondyloepimetaphyseal dysplasia Menger type | Spondyloepimetaphyseal dysplasia anauxetic type,SNOMEDCT ID:764460003,,,anauxetic dysplasia,MONDO:0011773,,MeSH ID:C538256,anauxetic dysplasia,DOID:0080942,, +BMGC_DS10848,BMG_DS039000,"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3",UMLS ID:C1846823,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 3",MONDO:0011771,,MeSH ID:C564626,autosomal recessive distal hereditary motor neuronopathy 3,DOID:0111211,,OMIM ID:607088 +BMGC_DS10849,BMG_DS039001,"Aortic Aneurysm, Familial Thoracic 2",UMLS ID:C1846837,,,,,"aortic aneurysm, familial thoracic 2",MONDO:0011770,,MeSH ID:C564627,,,,OMIM ID:607087 +BMGC_DS10850,BMG_DS039003,"DEAFNESS, AUTOSOMAL RECESSIVE 31",UMLS ID:C1846839,,,,,autosomal recessive nonsyndromic hearing loss 31,MONDO:0011767,,,,,,OMIM ID:607084 | OMIM ID:607928 +BMGC_DS10851,BMG_DS039004,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",UMLS ID:C1846843,,,,,multiple epiphyseal dysplasia type 5,MONDO:0011765,,,multiple epiphyseal dysplasia 5,DOID:0070299,,OMIM ID:602109 | OMIM ID:607078 +BMGC_DS10852,BMG_DS039006,"PARKINSON DISEASE 8, AUTOSOMAL DOMINANT",UMLS ID:C1846862,,,,,autosomal dominant Parkinson disease 8,MONDO:0011764,,,Parkinson's disease 8,DOID:0060371,,OMIM ID:609007 | OMIM ID:607060 +BMGC_DS10853,BMG_DS039007,"Deafness, Autosomal Recessive 22",UMLS ID:C1846896,,,,,autosomal recessive nonsyndromic hearing loss 22,MONDO:0011762,,MeSH ID:C564633,,,,OMIM ID:607039 +BMGC_DS10854,BMG_DS039008,"Deafness, Autosomal Dominant 21",UMLS ID:C1846922,,,,,autosomal dominant nonsyndromic hearing loss 21,MONDO:0011761,,MeSH ID:C564634,,,,OMIM ID:607017 +BMGC_DS10855,BMG_DS039009,"Brachydactyly, Type A1, B",UMLS ID:C1846949,,,,,brachydactyly type A1B,MONDO:0011757,,MeSH ID:C564635,,,,OMIM ID:607004 +BMGC_DS10856,BMG_DS039010,SENIOR-LOKEN SYNDROME 4,UMLS ID:C1846979,,,,,Senior-Loken syndrome 4,MONDO:0011756,,,,,,OMIM ID:607215 | OMIM ID:606996 +BMGC_DS10857,BMG_DS039011,Senior-Loken Syndrome 3,UMLS ID:C1846980,,,,,senior-loken syndrome 3,MONDO:0011755,,MeSH ID:C564637,,,,OMIM ID:606995 +BMGC_DS10858,BMG_DS039012,"Hyperreninemic Hypoaldosteronism, Familial, 2",UMLS ID:C1846990,,,,,familial hyperreninemic hypoaldosteronism type 2,MONDO:0011754,,MeSH ID:C564638,,,,OMIM ID:606984 +BMGC_DS10859,BMG_DS039014,NEPHRONOPHTHISIS 4,UMLS ID:C1847013,,,,,nephronophthisis 4,MONDO:0011752,,,,,,OMIM ID:606966 | OMIM ID:607215 +BMGC_DS10860,BMG_DS039015,"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, SEVERE EARLY-ONSET",UMLS ID:C1847014,,,,,"COPD, severe early onset",MONDO:0011751,,,,,,OMIM ID:606963 +BMGC_DS10861,BMG_DS039016,Oculocutaneous albinism type 1B,UMLS ID:C1847024,,,,,oculocutaneous albinism type 1B,MONDO:0011749,,MeSH ID:C537729,oculocutaneous albinism type IB,DOID:0070095,,OMIM ID:606952 +BMGC_DS10862,BMG_DS039017,"USHER SYNDROME, TYPE IG",UMLS ID:C1847089,,,,,Usher syndrome type 1G,MONDO:0011748,,,,,,OMIM ID:607696 | OMIM ID:606943 +BMGC_DS10863,BMG_DS039018,"ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",UMLS ID:C1847132,,,,,temperature-sensitive oculocutaneous albinism type 1,MONDO:0018137,,,,,,OMIM ID:606952 +BMGC_DS10864,BMG_DS039020,"Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch",UMLS ID:C1847185,,,,,"symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch",MONDO:0011746,,MeSH ID:C538148,,,,OMIM ID:606895 +BMGC_DS10865,BMG_DS039022,"Vascular Malformation, Primary Intraosseous",UMLS ID:C1847197,,,,,primary intraosseous venous malformation,MONDO:0011744,,MeSH ID:C564648,,,,OMIM ID:606893 +BMGC_DS10866,BMG_DS039023,ALZHEIMER DISEASE 4,UMLS ID:C1847200,,,,,Alzheimer disease 4,MONDO:0011743,,,Alzheimer's disease 4,DOID:0110040,,OMIM ID:606889 +BMGC_DS10867,BMG_DS039024,Paraganglioma and gastric stromal sarcoma syndrome,UMLS ID:C1847319,Paraganglioma and gastric stromal sarcoma syndrome (disorder) | Carney Stratakis syndrome | Paraganglioma and gastric stromal sarcoma syndrome | Carney Stratakis dyad,SNOMEDCT ID:722377004,,,Carney-Stratakis syndrome,MONDO:0011740,,,,,,OMIM ID:606864 +BMGC_DS10868,BMG_DS039025,,UMLS ID:C1847351,,,,,"pancreatic cancer, susceptibility to, 1",MONDO:0011739,,,,,,OMIM ID:606856 +BMGC_DS10869,BMG_DS039026,"POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",UMLS ID:C1847352,,,,,bilateral frontoparietal polymicrogyria,MONDO:0011738,,,bilateral frontoparietal polymicrogyria,DOID:0080922,,OMIM ID:606854 +BMGC_DS10870,BMG_DS039028,Cree Mental Retardation Syndrome,UMLS ID:C1847361,,,,,Cree intellectual disability syndrome,MONDO:0011736,,MeSH ID:C564654,,,,OMIM ID:606851 +BMGC_DS10871,BMG_DS039029,Cardioneuromyopathy with Hyaline Masses and Nemaline Rods,UMLS ID:C1847387,,,,,Cardioneuromyopathy with hyaline masses and nemaline rods,MONDO:0011734,,MeSH ID:C564655,,,,OMIM ID:606842 +BMGC_DS10872,BMG_DS039030,"Faciomandibular myoclonus, nocturnal",UMLS ID:C1847399,,,,,"parasomnia, sleep bruxism type",MONDO:0011733,,MeSH ID:C536389,,,,OMIM ID:606840 +BMGC_DS10873,BMG_DS039031,"Digital Arthropathy-Brachydactyly, Familial",UMLS ID:C1847406,,,,,familial digital arthropathy-brachydactyly,MONDO:0011732,,MeSH ID:C564656,,,,OMIM ID:606835 +BMGC_DS10874,BMG_DS039032,FRIEDREICH ATAXIA WITH RETAINED REFLEXES,UMLS ID:C1847416,,,,,Friedreich ataxia with retained reflexes,MONDO:0800301,,,,,,OMIM ID:229300 | OMIM ID:606829 +BMGC_DS10875,BMG_DS039034,,UMLS ID:C1847492,,,,,"anorexia nervosa, susceptibility to, 1",MONDO:0011727,,,,,,OMIM ID:606788 +BMGC_DS10876,BMG_DS039035,Peripheral Arterial Occlusive Disease 1,UMLS ID:C1847493,,,,,peripheral arterial occlusive disease 1,MONDO:0011726,,MeSH ID:C564658,,,,OMIM ID:606787 +BMGC_DS10877,BMG_DS039036,Glut1 Deficiency Syndrome,UMLS ID:C1847501,,,,,GLUT1 deficiency syndrome,MONDO:0000188,,MeSH ID:C536830,glucose transporter type 1 deficiency syndrome,DOID:0070560,, +BMGC_DS10878,BMG_DS039037,,UMLS ID:C1847521,,,,,hemifacial myohyperplasia,MONDO:0011723,,,,,,OMIM ID:606773 +BMGC_DS10879,BMG_DS039038,MOMES Syndrome,UMLS ID:C1847522,,,,,intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,MONDO:0011722,,MeSH ID:C564660,,,,OMIM ID:606772 +BMGC_DS10880,BMG_DS039039,Hyperopic Astigmatism,UMLS ID:C1847524,,,,,,,Astigmatism,MeSH ID:D001251,,,, +BMGC_DS10881,BMG_DS039040,"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",UMLS ID:C1847532,,,,,distal myopathy with anterior tibial onset,MONDO:0011721,,,distal myopathy with anterior tibial onset,DOID:0111187,,OMIM ID:603009 | OMIM ID:606768 +BMGC_DS10882,BMG_DS039041,"Azoospermia, Nonobstructive",UMLS ID:C1847540,,,,,,,,MeSH ID:C564665,,,, +BMGC_DS10883,BMG_DS039042,"Primary ciliary dyskinesia, 2",UMLS ID:C1847554,,,,,primary ciliary dyskinesia 2,MONDO:0011718,,MeSH ID:C535277,,,,OMIM ID:606763 +BMGC_DS10884,BMG_DS039043,"Hyperinsulinemic hypoglycemia, familial, 6",UMLS ID:C1847555,,,,,hyperinsulinism-hyperammonemia syndrome,MONDO:0011717,,MeSH ID:C538375,,,,OMIM ID:606762 +BMGC_DS10885,BMG_DS039044,SECKEL SYNDROME 2,UMLS ID:C1847572,,,,,Seckel syndrome 2,MONDO:0011715,,,,,,OMIM ID:604124 | OMIM ID:606744 +BMGC_DS10886,BMG_DS039046,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",UMLS ID:C1847593,,,,,multiple epiphyseal dysplasia type 4,MONDO:0009189,,,multiple epiphyseal dysplasia 4,DOID:0070300,,OMIM ID:606718 | OMIM ID:226900 +BMGC_DS10887,BMG_DS039047,Van der Woude syndrome 2,UMLS ID:C1847604,,,,,van der Woude syndrome 2,MONDO:0011712,,MeSH ID:C536529,,,,OMIM ID:606713 +BMGC_DS10888,BMG_DS039048,SPECIFIC LANGUAGE IMPAIRMENT 2,UMLS ID:C1847605,,,,,specific language impairment 2,MONDO:0011711,,,,,,OMIM ID:606712 +BMGC_DS10889,BMG_DS039049,SPECIFIC LANGUAGE IMPAIRMENT 1,UMLS ID:C1847614,,,,,specific language impairment 1,MONDO:0011710,,,,,,OMIM ID:606711 +BMGC_DS10890,BMG_DS039051,"Deafness, Autosomal Dominant 36",UMLS ID:C1847626,,,,,autosomal dominant nonsyndromic hearing loss 36,MONDO:0011708,,MeSH ID:C564675,,,,OMIM ID:606705 +BMGC_DS10891,BMG_DS039052,"Dyskinesia, Familial, with Facial Myokymia",UMLS ID:C1847627,,,,,,,,MeSH ID:C564676,,,, +BMGC_DS10892,BMG_DS039053,KUFOR-RAKEB SYNDROME,UMLS ID:C1847640,,,,,Kufor-Rakeb syndrome,MONDO:0011706,,,Kufor-Rakeb syndrome,DOID:0060556,,OMIM ID:606693 | OMIM ID:610513 +BMGC_DS10893,BMG_DS039055,SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES,UMLS ID:C1847650,,,,,spongiform encephalopathy with neuropsychiatric features,MONDO:0011703,,,,,,OMIM ID:606688 | OMIM ID:176640 +BMGC_DS10894,BMG_DS039056,"CARDIOMYOPATHY, DILATED, 1L",UMLS ID:C1847667,,,,,dilated cardiomyopathy 1L,MONDO:0011702,,,,,,OMIM ID:606685 | OMIM ID:601411 +BMGC_DS10895,BMG_DS039059,,UMLS ID:C1847711,,,,,"nonarteritic anterior ischemic optic neuropathy, susceptibility to",MONDO:0009789,,,,,,OMIM ID:258660 +BMGC_DS10896,BMG_DS039061,Hypermethioninemia due to deficiency of glycine N-methyltransferase,UMLS ID:C1847720,Hypermethioninemia due to deficiency of glycine N-methyltransferase | Hypermethioninaemia due to GNMT (glycine N-methyltransferase) deficiency | Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency | Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder) | Hypermethioninaemia due to deficiency of glycine N-methyltransferase | Glycine N-methyltransferase deficiency,SNOMEDCT ID:763720007,,,glycine N-methyltransferase deficiency,MONDO:0011698,,,,,,OMIM ID:606664 +BMGC_DS10897,BMG_DS039063,,UMLS ID:C1847723,,,,,"melanoma, uveal, susceptibility to, 2",MONDO:0011696,,,,,,OMIM ID:606661 +BMGC_DS10898,BMG_DS039064,,UMLS ID:C1847724,,,,,"melanoma, uveal, susceptibility to, 1",MONDO:0011695,,,,,,OMIM ID:606660 +BMGC_DS10899,BMG_DS039065,SPINOCEREBELLAR ATAXIA 15,UMLS ID:C1847725,,,,,spinocerebellar ataxia type 15/16,MONDO:0011694,,,spinocerebellar ataxia type 15,DOID:0050965,,OMIM ID:606658 | OMIM ID:147265 +BMGC_DS10900,BMG_DS039066,,UMLS ID:C1847730,,,,,"glaucoma, normal tension, susceptibility to",MONDO:0011693,,,,,,OMIM ID:606657 +BMGC_DS10901,BMG_DS039068,Amyotrophic Lateral Sclerosis 3,UMLS ID:C1847735,,,,,amyotrophic lateral sclerosis type 3,MONDO:0011691,,MeSH ID:C564688,,,,OMIM ID:606640 +BMGC_DS10902,BMG_DS039070,"MUSCULAR DYSTROPHY, CONGENITAL, 1C",UMLS ID:C1847759,,,,,muscular dystrophy-dystroglycanopathy type B5,MONDO:0011688,,,,,,OMIM ID:606612 +BMGC_DS10903,BMG_DS039071,Waardenburg Syndrome Type 1,UMLS ID:C1847800,,,,,Waardenburg syndrome type 1,MONDO:0008670,Waardenburg Syndrome,MeSH ID:D014849,Waardenburg syndrome type 1 | Waardenburg syndrome,DOID:0110948;DOID:9258,,OMIM ID:193500 +BMGC_DS10904,BMG_DS039072,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",UMLS ID:C1847823,,,,,Charcot-Marie-Tooth disease axonal type 2F,MONDO:0011687,,,,,,OMIM ID:606595 | OMIM ID:602195 +BMGC_DS10905,BMG_DS039073,LIG4 Syndrome,UMLS ID:C1847827,,,,,DNA ligase IV deficiency,MONDO:0011686,,MeSH ID:C564694,,,,OMIM ID:606593 +BMGC_DS10906,BMG_DS039074,,UMLS ID:C1847831,,,,,"polysubstance abuse, susceptibility to",MONDO:0011685,,,,,,OMIM ID:606581 +BMGC_DS10907,BMG_DS039075,,UMLS ID:C1847835,,,,,vitiligo-associated multiple autoimmune disease susceptibility 1,MONDO:0011684,,,,,,OMIM ID:606579 +BMGC_DS10908,BMG_DS039076,"Oculocutaneous Albinism, Type IV",UMLS ID:C1847836,,,,,oculocutaneous albinism type 4,MONDO:0011683,,MeSH ID:C564696,,,,OMIM ID:606574 +BMGC_DS10909,BMG_DS039077,"Episodic Ataxia, Type 3",UMLS ID:C1847839,,,,,episodic ataxia type 3,MONDO:0011682,,MeSH ID:C564697,,,,OMIM ID:606554 +BMGC_DS10910,BMG_DS039078,"EPISODIC ATAXIA, TYPE 4",UMLS ID:C1847843,,,,,episodic ataxia type 4,MONDO:0011681,,,episodic ataxia type 4,DOID:0050992,,OMIM ID:606552 +BMGC_DS10911,BMG_DS039080,Homozygous 11p15-p14 Deletion Syndrome,UMLS ID:C1847866,,,,,homozygous 11P15-p14 deletion syndrome,MONDO:0011678,,MeSH ID:C564701,,,,OMIM ID:606528 +BMGC_DS10912,BMG_DS039082,PHACE association,UMLS ID:C1847874,,,,,PHACE syndrome,MONDO:0011676,,MeSH ID:C537892,,,,OMIM ID:606519 +BMGC_DS10913,BMG_DS039083,"Charcot-Marie-Tooth Disease, Dominant Intermediate A",UMLS ID:C1847896,,,,,"Charcot-Marie-Tooth disease, dominant intermediate A",MONDO:0957273,,MeSH ID:C564702,Charcot-Marie-Tooth disease dominant intermediate A,DOID:0110202,,OMIM ID:620378 +BMGC_DS10914,BMG_DS039084,"Charcot-Marie-Tooth Disease, Dominant Intermediate B",UMLS ID:C1847902,,,,,Charcot-Marie-Tooth disease dominant intermediate B,MONDO:0011674,,MeSH ID:C564703,Charcot-Marie-Tooth disease dominant intermediate B,DOID:0110197,,OMIM ID:606482 +BMGC_DS10915,BMG_DS039085,"Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia",UMLS ID:C1847903,,,,,,,,MeSH ID:C564704,,,, +BMGC_DS10916,BMG_DS039086,Ovarioleukodystrophy,UMLS ID:C1847967,Ovarioleukodystrophy | Ovarioleukodystrophy (disorder) | Ovarioleucodystrophy,SNOMEDCT ID:1156768008,,,,,,MeSH ID:C565836,,,, +BMGC_DS10917,BMG_DS039087,"Deafness, Autosomal Dominant 30",UMLS ID:C1847972,,,,,autosomal dominant nonsyndromic hearing loss 30,MONDO:0011673,,MeSH ID:C564706,,,,OMIM ID:606451 +BMGC_DS10918,BMG_DS039088,Persistent Polyclonal B-Cell Lymphocytosis,UMLS ID:C1847973,,,,,persistent polyclonal B-cell lymphocytosis,MONDO:0011672,,MeSH ID:C564707,,,,OMIM ID:606445 +BMGC_DS10919,BMG_DS039089,HUNTINGTON DISEASE-LIKE 2,UMLS ID:C1847987,,,,,Huntington disease-like 2,MONDO:0011671,,,,,,OMIM ID:605268 | OMIM ID:606438 +BMGC_DS10920,BMG_DS039090,Ehlers-Danlos syndrome caused by tenascin-X deficiency,UMLS ID:C1848029,,,,,Ehlers-Danlos syndrome due to tenascin-X deficiency,MONDO:0011670,,MeSH ID:C536193,,,,OMIM ID:606408 +BMGC_DS10921,BMG_DS039091,Hypotonia-Cystinuria Syndrome,UMLS ID:C1848030,,,,,hypotonia-cystinuria syndrome,MONDO:0011669,,MeSH ID:C564710,hypotonia-cystinuria syndrome,DOID:0060858,,OMIM ID:606407 +BMGC_DS10922,BMG_DS039093,,UMLS ID:C1848066,,,,,"migraine, familial typical, susceptibility to, 2",MONDO:0010253,,,,,,OMIM ID:300125 +BMGC_DS10923,BMG_DS039094,"Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",UMLS ID:C1848068,,,,,X-linked intellectual disability with isolated growth hormone deficiency,MONDO:0019032,,MeSH ID:C564712,,,, +BMGC_DS10924,BMG_DS039095,Lissencephaly and agenesis of corpus callosum,UMLS ID:C1848070,,,,,,,,MeSH ID:C531731,,,, +BMGC_DS10925,BMG_DS039096,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50",UMLS ID:C1848087,,,,,"intellectual disability, X-linked 50",MONDO:0010251,,,non-syndromic X-linked intellectual disability 50,DOID:0112029,,OMIM ID:300115 | OMIM ID:313440 +BMGC_DS10926,BMG_DS039097,"Spondyloepimetaphyseal Dysplasia, X-Linked",UMLS ID:C1848097,,,,,X-linked spondyloepimetaphyseal dysplasia,MONDO:0010248,,MeSH ID:C564714,X-linked spondyloepimetaphyseal dysplasia,DOID:0112150,,OMIM ID:300106 +BMGC_DS10927,BMG_DS039098,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9,UMLS ID:C1848137,,,,,"developmental and epileptic encephalopathy, 9",MONDO:0010246,,,developmental and epileptic encephalopathy 9,DOID:0060848,,OMIM ID:300460 | OMIM ID:300088 +BMGC_DS10928,BMG_DS039099,"X Inactivation, Familial Skewed, 1",UMLS ID:C1848138,,,,,"X inactivation, familial skewed, 1",MONDO:0026404,,MeSH ID:C564716,,,,OMIM ID:300087 +BMGC_DS10929,BMG_DS039100,"CONE-ROD DYSTROPHY, X-LINKED, 2",UMLS ID:C1848139,,,,,X-linked cone-rod dystrophy 2,MONDO:0010245,,,X-linked cone-rod dystrophy 2,DOID:0111006,,OMIM ID:300085 +BMGC_DS10930,BMG_DS039101,"COGNITIVE FUNCTION 1, SOCIAL",UMLS ID:C1848140,,,,,CGF1,MONDO:0010244,,,,,,OMIM ID:300082 +BMGC_DS10931,BMG_DS039102,Woods Black Norbury syndrome,UMLS ID:C1848144,X-linked immunoneurologic disorder (disorder) | X-linked immunoneurologic disorder | Woods Black Norbury syndrome,SNOMEDCT ID:719827008,,,X-linked immunoneurologic disorder,MONDO:0010243,,MeSH ID:C536743,,,,OMIM ID:300076 +BMGC_DS10932,BMG_DS039103,"Fetal akinesia syndrome, X-linked",UMLS ID:C1848171,,,,,"fetal akinesia syndrome, X-linked",MONDO:0010242,,MeSH ID:C537921,,,,OMIM ID:300073 +BMGC_DS10933,BMG_DS039104,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",UMLS ID:C1848172,,,,,congenital stationary night blindness 2A,MONDO:0010241,,,congenital stationary night blindness 2A,DOID:0110871,,OMIM ID:300110 | OMIM ID:300071 +BMGC_DS10934,BMG_DS039106,X-Linked Lissencephaly,UMLS ID:C1848199,,,,,,,Classical Lissencephalies and Subcortical Band Heterotopias,MeSH ID:D054221,chromosome 17p13.1 deletion syndrome,DOID:0060402,, +BMGC_DS10935,BMG_DS039107,"SUBCORTICAL BAND HETEROTOPIA, X-LINKED",UMLS ID:C1848200,,,,,,,,,X-linked lissencephaly 1,DOID:0112239,,OMIM ID:300067 +BMGC_DS10936,BMG_DS039108,Subcortical Band Heterotopia,UMLS ID:C1848201,,,,,subcortical band heterotopia,MONDO:0020491,Classical Lissencephalies and Subcortical Band Heterotopias,MeSH ID:D054221,subcortical band heterotopia | chromosome 17p13.1 deletion syndrome,DOID:0060402;DOID:0111169,, +BMGC_DS10937,BMG_DS039109,"Deafness, X-Linked 4",UMLS ID:C1848204,,,,,"hearing loss, X-linked 4",MONDO:0010238,,MeSH ID:C564723,,,,OMIM ID:300066 +BMGC_DS10938,BMG_DS039111,"Periventricular Heterotopia, X-Linked",UMLS ID:C1848213,,,,,"heterotopia, periventricular, X-linked dominant",MONDO:0010233,Periventricular Nodular Heterotopia,MeSH ID:D054091,periventricular nodular heterotopia,DOID:0050454,,OMIM ID:300049 +BMGC_DS10939,BMG_DS039113,DOSAGE-SENSITIVE SEX REVERSAL,UMLS ID:C1848296,,,,,"46,XY sex reversal 2",MONDO:0010226,,,"46,XY sex reversal 2",DOID:0111777,,OMIM ID:300018 +BMGC_DS10940,BMG_DS039114,Dent disease 1,UMLS ID:C1848336,,,,,Dent disease type 1,MONDO:0010225,,MeSH ID:C538212,Dent disease 1,DOID:0081453,,OMIM ID:300009 +BMGC_DS10941,BMG_DS039116,Zunich neuroectodermal syndrome,UMLS ID:C1848392,,,,,CHIME syndrome,MONDO:0010221,,MeSH ID:C536729,CHIME syndrome,DOID:0112152,,OMIM ID:280000 +BMGC_DS10942,BMG_DS039118,"Xeroderma pigmentosum, variant type",UMLS ID:C1848410,,,,,xeroderma pigmentosum variant type,MONDO:0010214,,MeSH ID:C536766,xeroderma pigmentosum variant type,DOID:0110847,,OMIM ID:278750 +BMGC_DS10943,BMG_DS039119,"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E",UMLS ID:C1848411,,,,,xeroderma pigmentosum group E,MONDO:0010213,,,,,,OMIM ID:278740 +BMGC_DS10944,BMG_DS039122,"WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS",UMLS ID:C1848435,,,,,"wooly hair, autosomal recessive 1, with or without hypotrichosis",MONDO:0800312,,,hypotrichosis 8,DOID:0110705,,OMIM ID:278150 | OMIM ID:609239 +BMGC_DS10945,BMG_DS039123,Mental retardation Wolff type,UMLS ID:C1848439,,,,,"intellectual disability, Wolff type",MONDO:0010203,,MeSH ID:C537448,,,,OMIM ID:277990 +BMGC_DS10946,BMG_DS039125,WHITE FORELOCK WITH MALFORMATIONS,UMLS ID:C1848463,,,,,white forelock with malformations,MONDO:0010199,,,,,,OMIM ID:277740 +BMGC_DS10947,BMG_DS039126,"Whistling face syndrome, recessive form",UMLS ID:C1848470,,,,,"whistling face syndrome, recessive form",MONDO:0010197,,MeSH ID:C536699,,,,OMIM ID:277720 +BMGC_DS10948,BMG_DS039128,Pierre Robin syndrome with fetal chondrodysplasia,UMLS ID:C1848488,Weissenbacher-Zweymuller syndrome | Heterozygous OSMED (otospondylomegaepiphyseal dysplasia) | Heterozygous otospondylomegaepiphyseal dysplasia | Weissenbacher-Zweymuller syndrome (disorder) | Pierre Robin syndrome with fetal chondrodysplasia,SNOMEDCT ID:699313003,,,"otospondylomegaepiphyseal dysplasia, autosomal dominant",MONDO:0008490,,MeSH ID:C535776,,,,OMIM ID:184840 | OMIM ID:277610 +BMGC_DS10949,BMG_DS039129,"WAARDENBURG SYNDROME, TYPE 4A",UMLS ID:C1848519,,,,,Waardenburg syndrome type 4A,MONDO:0010192,,,Waardenburg syndrome type 4A,DOID:0110953,,OMIM ID:131244 | OMIM ID:277580 +BMGC_DS10950,BMG_DS039131,Pontocerebellar Hypoplasia Type 2A,UMLS ID:C1848526,,,,,pontocerebellar hypoplasia type 2A,MONDO:0010190,,MeSH ID:C564738,pontocerebellar hypoplasia type 2A,DOID:0060267,,OMIM ID:277470 +BMGC_DS10951,BMG_DS039134,Ataxia with vitamin E deficiency,UMLS ID:C1848533,Familial isolated vitamin E deficiency | Friedreich-like ataxia | Ataxia with vitamin E deficiency (disorder) | Ataxia with vitamin E deficiency | Ataxia with isolated vitamin E deficiency | Friedreich ataxia phenotype with selective vitamin E deficiency,SNOMEDCT ID:702442008,,,familial isolated deficiency of vitamin E,MONDO:0010188,,MeSH ID:C535393,familial isolated deficiency of vitamin E,DOID:0090028,,OMIM ID:277460 +BMGC_DS10952,BMG_DS039135,"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",UMLS ID:C1848534,,,,,"vitamin K-dependent clotting factors, combined deficiency of, type 1",MONDO:0010187,,,combined deficiency of vitamin K-dependent clotting factors 1,DOID:0112173,,OMIM ID:137167 | OMIM ID:277450 +BMGC_DS10953,BMG_DS039136,"Methylmalonic Aciduria and Homocystinuria, CblD Type",UMLS ID:C1848552,,,,,methylmalonic aciduria and homocystinuria type cblD,MONDO:0010185,,MeSH ID:C564743,,,,OMIM ID:277410 +BMGC_DS10954,BMG_DS039137,"Homocystinuria, CblD Type, Variant 1",UMLS ID:C1848553,,,,,,,,MeSH ID:C564743,,,, +BMGC_DS10955,BMG_DS039138,"Methylmalonic Aciduria, CblD Type, Variant 2",UMLS ID:C1848554,,,,,"vitamin B12-responsive methylmalonic acidemia, type cblDv2",MONDO:0017685,,MeSH ID:C564743,,,, +BMGC_DS10956,BMG_DS039139,Cobalamin C disease,UMLS ID:C1848561,Cobalamin C disease | Cobalamin C disease (disorder) | CblC methylmalonic acidaemia and homocystinuria | CblC methylmalonic acidemia and homocystinuria | Cobalamin locus C variant | CblC - Cobalamin locus C,SNOMEDCT ID:74653006,,,methylmalonic aciduria and homocystinuria type cblC,MONDO:0010184,,,,,,OMIM ID:277400 +BMGC_DS10957,BMG_DS039140,"Methylmalonic Aciduria and Homocystinuria, CblF Type",UMLS ID:C1848578,,,,,methylmalonic aciduria and homocystinuria type cblF,MONDO:0010183,,MeSH ID:C564747,,,,OMIM ID:277380 +BMGC_DS10958,BMG_DS039141,Visceral myopathy familial external ophthalmoplegia,UMLS ID:C1848586,,,,,oculogastrointestinal muscular dystrophy,MONDO:0010181,,MeSH ID:C536350,mitochondrial DNA depletion syndrome 8b | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 1,DOID:0080127;DOID:0070331;DOID:0080119,,OMIM ID:277320 +BMGC_DS10959,BMG_DS039142,Isolated hypoplasia of the right ventricle,UMLS ID:C1848587,,,,,isolated right ventricular hypoplasia,MONDO:0010179,,MeSH ID:C535682,,,,OMIM ID:277200 +BMGC_DS10960,BMG_DS039143,Vascular Hyalinosis,UMLS ID:C1848590,,,,,vascular hyalinosis,MONDO:0010177,,MeSH ID:C564750,,,,OMIM ID:277175 +BMGC_DS10961,BMG_DS039144,Van Bogaert-Hozay syndrome,UMLS ID:C1848598,,,,,van Bogaert-Hozay syndrome,MONDO:0010175,,MeSH ID:C536526,,,,OMIM ID:277150 +BMGC_DS10962,BMG_DS039145,VACTERL Association With Hydrocephalus,UMLS ID:C1848599,,,,,VACTERL with hydrocephalus,MONDO:0010172,,MeSH ID:C564751,,,,OMIM ID:276950 +BMGC_DS10963,BMG_DS039147,"USHER SYNDROME, TYPE IC",UMLS ID:C1848604,,,,,Usher syndrome type 1C,MONDO:0010171,,,,,,OMIM ID:276904 | OMIM ID:605242 +BMGC_DS10964,BMG_DS039148,"USHER SYNDROME, TYPE IIA",UMLS ID:C1848634,,,,,Usher syndrome type 2A,MONDO:0010169,,,,,,OMIM ID:276901 | OMIM ID:608400 +BMGC_DS10965,BMG_DS039151,Ulnar Agenesis and Endocardial Fibroelastosis,UMLS ID:C1848649,,,,,ulnar agenesis and endocardial fibroelastosis,MONDO:0010166,,MeSH ID:C564756,,,,OMIM ID:276822 +BMGC_DS10966,BMG_DS039152,Ulnar Hypoplasia with Mental Retardation,UMLS ID:C1848650,,,,,ulna hypoplasia-intellectual disability syndrome,MONDO:0010165,,MeSH ID:C564757,,,,OMIM ID:276821 +BMGC_DS10967,BMG_DS039153,Al Awadi syndrome,UMLS ID:C1848651,,,,,"phocomelia, Schinzel type",MONDO:0010164,,MeSH ID:C535612,,,,OMIM ID:276820 +BMGC_DS10968,BMG_DS039156,,UMLS ID:C1848724,,,,,T-substance anomaly,MONDO:0010158,,,,,,OMIM ID:276200 +BMGC_DS10969,BMG_DS039157,Distal amyotrophy,UMLS ID:C1848736,,,,,,,,,,,,OMIM ID:MTHU000679 +BMGC_DS10970,BMG_DS039159,Oliver-McFarlane syndrome,UMLS ID:C1848745,,,,,trichomegaly-retina pigmentary degeneration-dwarfism syndrome,MONDO:0010152,,MeSH ID:C536554,Oliver-McFarlane syndrome,DOID:0111271,,OMIM ID:275400 +BMGC_DS10971,BMG_DS039160,"Tricarboxylic Acid Cycle, Defect of",UMLS ID:C1848746,,,,,"tricarboxylic acid cycle, defect of",MONDO:0010151,,MeSH ID:C564762,,,,OMIM ID:275370 +BMGC_DS10972,BMG_DS039161,"TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF",UMLS ID:C1848756,,,,,"tongue, pigmented fungiform papillae of",MONDO:0010147,,,,,,OMIM ID:275250 +BMGC_DS10973,BMG_DS039164,,UMLS ID:C1848795,,,,,"Graves disease, susceptibility to, 1",MONDO:0100489,,,,,,OMIM ID:275000 +BMGC_DS10974,BMG_DS039165,Thyroid Dyshormonogenesis 1,UMLS ID:C1848805,,,,,thyroid dyshormonogenesis 1,MONDO:0020716,,MeSH ID:C564766,thyroid dyshormonogenesis 1,DOID:0112185,,OMIM ID:274400 +BMGC_DS10975,BMG_DS039166,Thymic-Renal-Anal-Lung dysplasia,UMLS ID:C1848812,,,,,thymic-renal-anal-lung dysplasia,MONDO:0010129,,MeSH ID:C536907,,,,OMIM ID:274265 +BMGC_DS10976,BMG_DS039167,Thyrocerebral-retinal syndrome,UMLS ID:C1848813,,,,,thyrocerebrorenal syndrome,MONDO:0010128,,MeSH ID:C536908,,,,OMIM ID:274240 +BMGC_DS10977,BMG_DS039168,,UMLS ID:C1848814,,,,,"thymoma, familial",MONDO:0010127,,,,,,OMIM ID:274230 +BMGC_DS10978,BMG_DS039170,"Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness",UMLS ID:C1848816,,,,,upper limb defect-eye and ear abnormalities syndrome,MONDO:0010125,,MeSH ID:C564769,,,,OMIM ID:274205 +BMGC_DS10979,BMG_DS039171,,UMLS ID:C1848817,,,,,"thumb, distal hyperextensibility of",MONDO:0010124,,,,,,OMIM ID:274200 +BMGC_DS10980,BMG_DS039172,"Thumb Agenesis, Short Stature, And Immunodeficiency",UMLS ID:C1848818,,,,,obsolete absent thumb-short stature-immunodeficiency syndrome,MONDO:0010123,,MeSH ID:C564770,,,,OMIM ID:274190 +BMGC_DS10981,BMG_DS039174,,UMLS ID:C1848861,,,,,inherited threoninemia,MONDO:0010118,,,,,,OMIM ID:273770 +BMGC_DS10982,BMG_DS039175,Miller-McKusick-Malvaux-Syndrome (3M Syndrome),UMLS ID:C1848862,,,,,3-M syndrome,MONDO:0007477,,MeSH ID:C535314,3-M syndrome,DOID:0060241,, +BMGC_DS10983,BMG_DS039176,Thoracomelic Dysplasia,UMLS ID:C1848863,,,,,thoracomelic dysplasia,MONDO:0010116,,MeSH ID:C564773,,,,OMIM ID:273740 +BMGC_DS10984,BMG_DS039178,Thanatophoric dysplasia Glasgow variant,UMLS ID:C1848865,,,,,"thanatophoric dysplasia, Glasgow variant",MONDO:0010114,,MeSH ID:C536506,,,,OMIM ID:273680 +BMGC_DS10985,BMG_DS039179,,UMLS ID:C1848901,,,,,"testes, rudimentary",MONDO:0010106,,,,,,OMIM ID:273150 +BMGC_DS10986,BMG_DS039180,,UMLS ID:C1848902,,,,,"teratoma, pineal",MONDO:0010105,,,,,,OMIM ID:273120 +BMGC_DS10987,BMG_DS039183,Teebi Shaltout syndrome,UMLS ID:C1848912,Teebi Shaltout syndrome | Teebi Shaltout syndrome (disorder),SNOMEDCT ID:771265006,,,Teebi-Shaltout syndrome,MONDO:0010101,,MeSH ID:C536950,,,,OMIM ID:272950 +BMGC_DS10988,BMG_DS039184,"Tay-Sachs Disease, Juvenile",UMLS ID:C1848913,,,,,,,,MeSH ID:C564782,,,, +BMGC_DS10989,BMG_DS039185,"Hexosaminidase A Deficiency, Adult Type",UMLS ID:C1848914,,,,,"Tay-Sachs disease, B variant, adult form",MONDO:0017726,,MeSH ID:C564783,,,, +BMGC_DS10990,BMG_DS039187,"Tay-Sachs Disease, Variant B1",UMLS ID:C1848916,,,,,"Tay-Sachs disease, B1 variant",MONDO:0017728,,MeSH ID:C564785,,,, +BMGC_DS10991,BMG_DS039189,Hexosaminidase alpha-Subunit Deficiency (Variant B),UMLS ID:C1848922,,,,,,,Tay-Sachs Disease,MeSH ID:D013661,,,, +BMGC_DS10992,BMG_DS039190,Tatsumi Factor Deficiency,UMLS ID:C1848931,,,,,Tatsumi factor deficiency,MONDO:0010097,,MeSH ID:C564787,,,,OMIM ID:272650 +BMGC_DS10993,BMG_DS039192,SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME,UMLS ID:C1848934,,,,,spondylocarpotarsal synostosis syndrome,MONDO:0010094,,,,,,OMIM ID:603381 | OMIM ID:272460 +BMGC_DS10994,BMG_DS039193,,UMLS ID:C1848947,,,,,Cold-induced sweating syndrome 1,MONDO:0010091,,,,,,OMIM ID:272430 | OMIM ID:601378 +BMGC_DS10995,BMG_DS039194,,UMLS ID:C1848954,,,,,generalized dystonia,MONDO:0000476,,,,,, +BMGC_DS10996,BMG_DS039195,"Sucrosuria, Hiatus Hernia and Mental Retardation",UMLS ID:C1848963,,,,,"sucrosuria, hiatus hernia and intellectual disability",MONDO:0010084,,MeSH ID:C564792,,,,OMIM ID:272000 +BMGC_DS10997,BMG_DS039197,"SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE",UMLS ID:C1849011,,,,,spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,MONDO:0010077,,,"spondylometaepiphyseal dysplasia, short limb-hand type",DOID:0112196,,OMIM ID:191311 | OMIM ID:271665 +BMGC_DS10998,BMG_DS039198,"Spondyloepiphyseal dysplasia tarda, Toledo type",UMLS ID:C1849048,,,,,"brachyolmia type 1, toledo type",MONDO:0010074,,MeSH ID:C535787,,,,OMIM ID:271630 +BMGC_DS10999,BMG_DS039199,Spondyloepiphyseal Dysplasia Tarda with Mental Retardation,UMLS ID:C1849053,,,,,"spondyloepiphyseal dysplasia tarda, Kohn type",MONDO:0010073,,MeSH ID:C564796,spondyloepiphyseal dysplasia tarda with intellectual disability,DOID:0112292,,OMIM ID:271620 +BMGC_DS11000,BMG_DS039200,"Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive",UMLS ID:C1849054,,,,,"spondyloepiphyseal dysplasia tarda, autosomal recessive",MONDO:0010072,,MeSH ID:C564797,,,,OMIM ID:271600 +BMGC_DS11001,BMG_DS039201,"Brachyolmia, recessive Hobaek type",UMLS ID:C1849055,,,,,"brachyolmia type 1, Hobaek type",MONDO:0010070,,MeSH ID:C537099,,,,OMIM ID:271530 +BMGC_DS11002,BMG_DS039202,Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies,UMLS ID:C1849069,,,,,spondylocostal dysostosis-anal and genitourinary malformations syndrome,MONDO:0010069,,MeSH ID:C564799,,,,OMIM ID:271520 +BMGC_DS11003,BMG_DS039203,Mousa Al din Al Nassar syndrome,UMLS ID:C1849085,,,,,spastic ataxia-corneal dystrophy syndrome,MONDO:0010064,,MeSH ID:C536989,,,,OMIM ID:271320 +BMGC_DS11004,BMG_DS039204,Corneal cerebellar syndrome,UMLS ID:C1849087,Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) | Corneal cerebellar syndrome | Der Kaloustian Jarudi Khoury syndrome | Spinocerebellar degeneration and corneal dystrophy syndrome,SNOMEDCT ID:720750004,,,corneal-cerebellar syndrome,MONDO:0010063,,MeSH ID:C535472,,,,OMIM ID:271310 +BMGC_DS11005,BMG_DS039206,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",UMLS ID:C1849094,,,,,autosomal recessive cerebellar ataxia-blindness-deafness syndrome,MONDO:0010061,,,autosomal recessive spinocerebellar ataxia 3,DOID:0111612,,OMIM ID:271250 +BMGC_DS11006,BMG_DS039207,Infantile onset spinocerebellar ataxia,UMLS ID:C1849096,"Infantile onset spinocerebellar ataxia (disorder) | Infantile onset spinocerebellar ataxia | Ohaha syndrome | Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome",SNOMEDCT ID:724227000,,,mitochondrial DNA depletion syndrome 7 (hepatocerebral type),MONDO:0010060,,MeSH ID:C535523,mitochondrial DNA depletion syndrome 7,DOID:0080126,,OMIM ID:271245 +BMGC_DS11007,BMG_DS039209,"Spinal muscular atrophy, Ryukyuan type",UMLS ID:C1849102,,,,,"spinal muscular atrophy, Ryukyuan type",MONDO:0010057,,MeSH ID:C536881,,,,OMIM ID:271200 +BMGC_DS11008,BMG_DS039211,Spinal Muscular Atrophy with Mental Retardation,UMLS ID:C1849109,,,,,spinal muscular atrophy with intellectual disability,MONDO:0010054,,MeSH ID:C564807,,,,OMIM ID:271109 +BMGC_DS11009,BMG_DS039212,"Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation",UMLS ID:C1849112,,,,,spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,MONDO:0010051,,MeSH ID:C564808,,,,OMIM ID:270950 +BMGC_DS11010,BMG_DS039213,"Spastic Paresis, Glaucoma, and Mental Retardation",UMLS ID:C1849113,,,,,spastic paraplegia-glaucoma-intellectual disability syndrome,MONDO:0010049,,MeSH ID:C564809,,,,OMIM ID:270850 +BMGC_DS11011,BMG_DS039215,"Spastic Paraplegia 5a, Autosomal Recessive",UMLS ID:C1849115,,,,,hereditary spastic paraplegia 5A,MONDO:0010047,,MeSH ID:C564811,,,,OMIM ID:270800 +BMGC_DS11012,BMG_DS039216,"Spastic paraplegia 15, autosomal recessive",UMLS ID:C1849128,,,,,hereditary spastic paraplegia 15,MONDO:0010044,,MeSH ID:C536642,,,,OMIM ID:270700 +BMGC_DS11013,BMG_DS039217,Spastic diplegia infantile type,UMLS ID:C1849139,,,,,spastic diplegia and intellectual disability,MONDO:0010042,,MeSH ID:C537481,,,,OMIM ID:270600 +BMGC_DS11014,BMG_DS039218,"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE",UMLS ID:C1849140,,,,,Charlevoix-Saguenay spastic ataxia,MONDO:0010041,,,,,,OMIM ID:604490 | OMIM ID:270550 +BMGC_DS11015,BMG_DS039219,Spastic Ataxia,UMLS ID:C1849156,,,,,spastic ataxia,MONDO:0017845,,MeSH ID:C564815,spastic ataxia,DOID:0050952,, +BMGC_DS11016,BMG_DS039220,"Insulin-Like Growth Factor I, Resistance To",UMLS ID:C1849157,,,,,growth delay due to insulin-like growth factor I resistance,MONDO:0010038,,MeSH ID:C564816,,,,OMIM ID:270450 +BMGC_DS11017,BMG_DS039222,,UMLS ID:C1849169,,,,,sodium-potassium-ATPase activity of red cell,MONDO:0010037,,,,,,OMIM ID:270425 +BMGC_DS11018,BMG_DS039223,,UMLS ID:C1849193,,,,,peeling skin syndrome 1,MONDO:0024548,,,peeling skin syndrome,DOID:0060283,,OMIM ID:270300 +BMGC_DS11019,BMG_DS039226,"Severe combined immunodeficiency, atypical",UMLS ID:C1849236,,,,,,,,MeSH ID:C537590,immunodeficiency 48,DOID:0111943,, +BMGC_DS11020,BMG_DS039229,Second Metatarsal-Metacarpal Syndrome,UMLS ID:C1849259,,,,,second metatarsal-metacarpal syndrome,MONDO:0010018,,MeSH ID:C564824,,,,OMIM ID:269630 +BMGC_DS11021,BMG_DS039230,Rodrigues blindness,UMLS ID:C1849332,,,,,ectodermal dysplasia-blindness syndrome,MONDO:0010001,,MeSH ID:C535865,,,,OMIM ID:268320 +BMGC_DS11022,BMG_DS039231,"Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction",UMLS ID:C1849333,,,,,"rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction",MONDO:0010000,,MeSH ID:C564829,,,,OMIM ID:268315 +BMGC_DS11023,BMG_DS039232,"Robinow syndrome, autosomal recessive",UMLS ID:C1849334,,,,,,,,MeSH ID:C535863,,,, +BMGC_DS11024,BMG_DS039233,Richieri Costa Pereira syndrome,UMLS ID:C1849348,"Robin sequence with cleft mandible and limb anomalies syndrome | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) | Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome | Richieri Costa Pereira syndrome",SNOMEDCT ID:723998001,,,Richieri Costa-Pereira syndrome,MONDO:0009998,,MeSH ID:C535677,,,,OMIM ID:268305 +BMGC_DS11025,BMG_DS039234,Rhizomelic syndrome,UMLS ID:C1849382,,,,,"rhizomelic syndrome, Urbach type",MONDO:0009996,,MeSH ID:C537611,,,,OMIM ID:268250 +BMGC_DS11026,BMG_DS039235,"Myoglobinuria, Acute Recurrent, Autosomal Recessive",UMLS ID:C1849386,,,,,"myoglobinuria, acute recurrent, autosomal recessive",MONDO:0009992,,MeSH ID:C564832,,,,OMIM ID:268200 +BMGC_DS11027,BMG_DS039236,"Rh-Null, Regulator Type",UMLS ID:C1849387,,,,,,,,MeSH ID:C564833,,,, +BMGC_DS11028,BMG_DS039237,Enhanced S-Cone Syndrome,UMLS ID:C1849394,,,,,enhanced S-cone syndrome,MONDO:0100288,,MeSH ID:C564835,enhanced S-cone syndrome,DOID:0090059,,OMIM ID:268100 +BMGC_DS11029,BMG_DS039239,"Retinopathy, Pericentral Pigmentary, Autosomal Recessive",UMLS ID:C1849398,,,,,autosomal recessive pericentral pigmentary retinopathy,MONDO:0009987,,MeSH ID:C564838,,,,OMIM ID:268060 +BMGC_DS11030,BMG_DS039241,"Retinitis Pigmentosa, Late-Adult Onset",UMLS ID:C1849400,,,,,late-adult onset retinitis pigmentosa,MONDO:0009984,,MeSH ID:C564840,,,,OMIM ID:268025 +BMGC_DS11031,BMG_DS039242,"Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism",UMLS ID:C1849401,,,,,retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome,MONDO:0009983,,MeSH ID:C564841,,,,OMIM ID:268020 +BMGC_DS11032,BMG_DS039245,Knobloch syndrome,UMLS ID:C1849409,Retinal detachment and occipital encephalocele | Knobloch syndrome | Retinal detachment and occipital encephalocoele | Retinal detachment and occipital encephalocele (disorder),SNOMEDCT ID:703542000,,,Knobloch syndrome,MONDO:0800166,,MeSH ID:C537209,,,, +BMGC_DS11033,BMG_DS039246,Retinal Degeneration and Epilepsy,UMLS ID:C1849416,,,,,retinal degeneration and epilepsy,MONDO:0009976,,MeSH ID:C564847,,,,OMIM ID:267740 +BMGC_DS11034,BMG_DS039248,"Renal, Genital, and Middle Ear Anomalies",UMLS ID:C1849432,,,,,renal-genital-middle ear anomalies,MONDO:0009969,,MeSH ID:C564849,,,,OMIM ID:267400 +BMGC_DS11035,BMG_DS039249,"Renal tubular acidosis, distal, type 3",UMLS ID:C1849435,,,,,renal tubular acidosis 3,MONDO:0009967,,MeSH ID:C537759,,,,OMIM ID:267200 +BMGC_DS11036,BMG_DS039250,Mainzer-Saldino Disease,UMLS ID:C1849437,,,,,short-rib thoracic dysplasia 9 with or without polydactyly,MONDO:0009964,,MeSH ID:C535463,,,,OMIM ID:266920 +BMGC_DS11037,BMG_DS039253,Reese Retinal Dysplasia,UMLS ID:C1849450,,,,,Reese retinal dysplasia,MONDO:0009957,,MeSH ID:C564854,,,,OMIM ID:266400 +BMGC_DS11038,BMG_DS039254,Red skin pigment anomaly of New Guinea,UMLS ID:C1849451,,,,,red skin pigment anomaly of new guinea,MONDO:0009956,,MeSH ID:C535515,,,,OMIM ID:266350 +BMGC_DS11039,BMG_DS039255,Rapadilino syndrome,UMLS ID:C1849453,,,,,rapadilino syndrome,MONDO:0009955,,MeSH ID:C535288,rapadilino syndrome,DOID:0050774,,OMIM ID:266280 +BMGC_DS11040,BMG_DS039256,"Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia",UMLS ID:C1849470,,,,,radioulnar synostosis-developmental delay-hypotonia syndrome,MONDO:0009952,,MeSH ID:C564856,,,,OMIM ID:266255 +BMGC_DS11041,BMG_DS039257,"Radiculoneuropathy, Fatal Neonatal",UMLS ID:C1849471,,,,,"radiculoneuropathy, fatal neonatal",MONDO:0009951,,MeSH ID:C564857,,,,OMIM ID:266250 +BMGC_DS11042,BMG_DS039258,"Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to",UMLS ID:C1849507,,,,,hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,MONDO:0009946,,MeSH ID:C564859,,,,OMIM ID:266120 +BMGC_DS11043,BMG_DS039259,"EPILEPSY, PYRIDOXINE-DEPENDENT",UMLS ID:C1849508,,,,,pyridoxine-dependent epilepsy,MONDO:0009945,,,early-onset vitamin B6-dependent epilepsy 4 | pyridoxine-dependent epilepsy,DOID:0070519;DOID:0080768,,OMIM ID:266100 +BMGC_DS11044,BMG_DS039260,Pyknoachondrogenesis,UMLS ID:C1849523,Pyknoachondrogenesis (disorder) | Pyknoachondrogenesis | Camera syndrome,SNOMEDCT ID:719258003,,,pyknoachondrogenesis,MONDO:0009942,,MeSH ID:C536251,,,,OMIM ID:265880 +BMGC_DS11045,BMG_DS039262,,UMLS ID:C1849554,,,,,congenital pulmonary lymphangiectasia,MONDO:0009933,,,,,,OMIM ID:265300 +BMGC_DS11046,BMG_DS039263,Pulmonary Bullae Causing Pneumothorax,UMLS ID:C1849566,,,,,pulmonary bullae causing pneumothorax,MONDO:0009932,,MeSH ID:C564863,,,,OMIM ID:265200 +BMGC_DS11047,BMG_DS039264,Pseudouridinuria and Mental Defect,UMLS ID:C1849648,,,,,Pseudouridinuria and mental defect,MONDO:0009922,,MeSH ID:C564864,,,,OMIM ID:264500 +BMGC_DS11048,BMG_DS039265,Pseudotrisomy 13 syndrome,UMLS ID:C1849649,Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Holoprosencephaly and postaxial polydactyly syndrome | Pseudotrisomy 13 syndrome,SNOMEDCT ID:716091000,,,holoprosencephaly-postaxial polydactyly syndrome,MONDO:0009921,,MeSH ID:C535829,,,,OMIM ID:264480 +BMGC_DS11049,BMG_DS039268,Peroxisomal ACYL-COA oxidase deficiency,UMLS ID:C1849678,,,,,peroxisomal acyl-CoA oxidase deficiency,MONDO:0009919,,MeSH ID:C536662,peroxisomal acyl-CoA oxidase deficiency,DOID:0050797,,OMIM ID:264470 +BMGC_DS11050,BMG_DS039269,"Fundus dystrophy, pseudoinflammatory recessive form",UMLS ID:C1849694,,,,,"fundus dystrophy, pseudoinflammatory, recessive form",MONDO:0009918,,MeSH ID:C535828,,,,OMIM ID:264420 +BMGC_DS11051,BMG_DS039271,"Pseudohermaphroditism, Female, with Skeletal Anomalies",UMLS ID:C1849696,,,,,"46,XX disorder of sex development-skeletal anomalies syndrome",MONDO:0009915,,MeSH ID:C564869,,,,OMIM ID:264270 +BMGC_DS11052,BMG_DS039272,Prolactin Deficiency with Obesity and Enlarged Testes,UMLS ID:C1849698,,,,,prolactin deficiency with obesity and enlarged testes,MONDO:0009912,,MeSH ID:C564870,,,,OMIM ID:264120 +BMGC_DS11053,BMG_DS039273,Progesterone Resistance,UMLS ID:C1849699,,,,,progesterone resistance,MONDO:0009909,,MeSH ID:C564871,,,,OMIM ID:264080 +BMGC_DS11054,BMG_DS039274,Hyperphenylalaninemia with primapterinuria,UMLS ID:C1849700,,,,,pterin-4 alpha-carbinolamine dehydratase 1 deficiency,MONDO:0009908,,MeSH ID:C538382,,,,OMIM ID:264070 +BMGC_DS11055,BMG_DS039275,,UMLS ID:C1849701,,,,,prenatal bowing,MONDO:0009906,,,,,,OMIM ID:264050 +BMGC_DS11056,BMG_DS039276,"POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE",UMLS ID:C1849718,,,,,Bartsocas-Papas syndrome 1,MONDO:0009901,,,,,,OMIM ID:263650 +BMGC_DS11057,BMG_DS039277,Bonneau Syndrome,UMLS ID:C1849719,,,,,polysyndactyly-cardiac malformation syndrome,MONDO:0009900,,MeSH ID:C564875,,,,OMIM ID:263630 +BMGC_DS11058,BMG_DS039278,"Polyhydramnios, Chronic Idiopathic",UMLS ID:C1849720,,,,,"polyhydramnios, chronic idiopathic",MONDO:0009899,,MeSH ID:C564876,,,,OMIM ID:263610 +BMGC_DS11059,BMG_DS039279,,UMLS ID:C1849721,,,,,"polysaccharide, storage of unusual",MONDO:0009898,,,,,,OMIM ID:263600 +BMGC_DS11060,BMG_DS039280,"Polyglucosan Body Disease, Adult Form",UMLS ID:C1849722,,,,,adult polyglucosan body disease,MONDO:0009897,,MeSH ID:C564878,,,,OMIM ID:263570 +BMGC_DS11061,BMG_DS039281,Infantile polymyoclonus,UMLS ID:C1849731,,,,,"polymyoclonus, infantile",MONDO:0009896,,MeSH ID:C535524,,,,OMIM ID:263550 +BMGC_DS11062,BMG_DS039283,"Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",UMLS ID:C1849762,,,,,Gillessen-Kaesbach-Nishimura syndrome,MONDO:0009890,,MeSH ID:C564881,,,,OMIM ID:263210 +BMGC_DS11063,BMG_DS039284,Periportal fibrosis,UMLS ID:C1849766,Periportal fibrosis | Periportal fibrosis (disorder),SNOMEDCT ID:870517000,,,,,,,,,,OMIM ID:MTHU010078 +BMGC_DS11064,BMG_DS039287,Platelet Prostacyclin Receptor Defect,UMLS ID:C1849774,,,,,platelet prostacyclin receptor defect,MONDO:0009884,,MeSH ID:C564884,,,,OMIM ID:262875 +BMGC_DS11065,BMG_DS039289,Kowarski syndrome,UMLS ID:C1849779,,,,,short stature due to growth hormone qualitative anomaly,MONDO:0009879,,MeSH ID:C537505,,,,OMIM ID:262650 +BMGC_DS11066,BMG_DS039290,Achromatopsia 3,UMLS ID:C1849792,,,,,achromatopsia 3,MONDO:0009875,,MeSH ID:C536129,achromatopsia 3,DOID:0110008,,OMIM ID:262300 +BMGC_DS11067,BMG_DS039292,Pili torti developmental delay neurological abnormalities,UMLS ID:C1849811,,,,,pili torti-developmental delay-neurological abnormalities syndrome,MONDO:0009871,,MeSH ID:C537398,,,,OMIM ID:261990 +BMGC_DS11068,BMG_DS039293,"Glycogen Storage Disease of Heart, Lethal Congenital",UMLS ID:C1849813,,,,,lethal congenital glycogen storage disease of heart,MONDO:0009867,,MeSH ID:C564888,,,,OMIM ID:261740 +BMGC_DS11069,BMG_DS039294,"Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial",UMLS ID:C1849821,,,,,"phosphoenolpyruvate carboxykinase deficiency, mitochondrial",MONDO:0009864,,MeSH ID:C564890,,,,OMIM ID:261650 +BMGC_DS11070,BMG_DS039295,,UMLS ID:C1849927,,,,,phenformin 4-hydroxylation,MONDO:0009860,,,,,,OMIM ID:261590 +BMGC_DS11071,BMG_DS039298,,UMLS ID:C1849930,,,,,persistent Mullerian duct syndrome,MONDO:0009857,,,persistent Mullerian duct syndrome,DOID:0050791,,OMIM ID:261550 +BMGC_DS11072,BMG_DS039299,Presentey Anomaly,UMLS ID:C1850000,,,,,eosinophil peroxidase deficiency,MONDO:0043364,,MeSH ID:C564893,,,,OMIM ID:261500 +BMGC_DS11073,BMG_DS039300,,UMLS ID:C1850001,,,,,"peroneus tertius muscle, absence of",MONDO:0009854,,,,,,OMIM ID:261400 +BMGC_DS11074,BMG_DS039301,"Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain",UMLS ID:C1850022,,,,,"peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain",MONDO:0009851,,MeSH ID:C564894,,,,OMIM ID:260970 +BMGC_DS11075,BMG_DS039303,Pelviscapular dysplasia,UMLS ID:C1850040,Pelviscapular dysplasia | Cousin syndrome | Familial pelvis-scapular dysplasia | Pelviscapular dysplasia syndrome (disorder) | Pelviscapular dysplasia syndrome,SNOMEDCT ID:719299009,,,pelviscapular dysplasia,MONDO:0009845,,MeSH ID:C535550,,,,OMIM ID:260660 +BMGC_DS11076,BMG_DS039305,"Pelizaeus-Merzbacher-like disease, autosomal recessive, 2",UMLS ID:C1850053,,,,,hypomyelinating leukodystrophy 3,MONDO:0009843,,MeSH ID:C536319,,,,OMIM ID:260600 +BMGC_DS11077,BMG_DS039306,Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain,UMLS ID:C1850054,,,,,Pelger-Huet-like anomaly and episodic fever with abdominal pain,MONDO:0009842,,MeSH ID:C564899,,,,OMIM ID:260570 +BMGC_DS11078,BMG_DS039307,PEHO syndrome,UMLS ID:C1850055,"Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome | Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) | PEHO syndrome | PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome | PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome",SNOMEDCT ID:442511009,,,PEHO syndrome,MONDO:0009841,,MeSH ID:C536317,PEHO syndrome,DOID:0080539,,OMIM ID:260565 +BMGC_DS11079,BMG_DS039308,"Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome",UMLS ID:C1850056,"PEHO-like syndrome | Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) | Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome | PEHOL (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome | PEHOL (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like) syndrome",SNOMEDCT ID:770678005,,,PEHO-like syndrome,MONDO:0020495,,,,,,OMIM ID:617507 +BMGC_DS11080,BMG_DS039310,"Supranuclear Palsy, Progressive, 1, Atypical",UMLS ID:C1850077,,,,,progressive supranuclear palsy-parkinsonism syndrome,MONDO:0009839,,MeSH ID:C537240,,,,OMIM ID:260540 +BMGC_DS11081,BMG_DS039311,Parana Hard Skin Syndrome,UMLS ID:C1850079,,,,,Parana hard-skin syndrome,MONDO:0009838,,MeSH ID:C564905,,,,OMIM ID:260530 +BMGC_DS11082,BMG_DS039314,"Pancreatic Agenesis, Congenital",UMLS ID:C1850096,,,,,,,,MeSH ID:C564908,,,, +BMGC_DS11083,BMG_DS039315,Pallidopyramidal syndrome,UMLS ID:C1850100,Parkinsonian pyramidal syndrome (disorder) | Pallidopyramidal syndrome | Parkinsonian pyramidal syndrome,SNOMEDCT ID:783012006,,,parkinsonian-pyramidal syndrome,MONDO:0009830,,MeSH ID:C538104,,,,OMIM ID:260300 +BMGC_DS11084,BMG_DS039319,,UMLS ID:C1850104,,,,,PA polymorphism of alpha-2-globulin,MONDO:0009826,,,,,,OMIM ID:260100 +BMGC_DS11085,BMG_DS039320,Otoonychoperoneal Syndrome,UMLS ID:C1850105,,,,,otoonychoperoneal syndrome,MONDO:0009822,,MeSH ID:C564912,,,,OMIM ID:259780 +BMGC_DS11086,BMG_DS039321,RAINE SYNDROME,UMLS ID:C1850106,,,,,lethal osteosclerotic bone dysplasia,MONDO:0009821,,,,,,OMIM ID:611061 | OMIM ID:259775 | OMIM ID:259660 | OMIM ID:259775 +BMGC_DS11087,BMG_DS039322,"Osteopetrosis, mild autosomal recessive form",UMLS ID:C1850126,,,,,autosomal recessive osteopetrosis 2,MONDO:0009816,,MeSH ID:C536059,,,,OMIM ID:259710 +BMGC_DS11088,BMG_DS039323,"Osteopetrosis, Autosomal Recessive 1",UMLS ID:C1850127,,,,,autosomal recessive osteopetrosis 1,MONDO:0009815,,MeSH ID:C564915,,,,OMIM ID:259700 +BMGC_DS11089,BMG_DS039324,Kaler Garrity Stern syndrome,UMLS ID:C1850140,"Osteopenia, intellectual disability, sparse hair syndrome (disorder) | Kaler Garrity Stern syndrome | Osteopenia, intellectual disability, sparse hair syndrome",SNOMEDCT ID:732954002,,,osteopenia-intellectual disability-sparse hair syndrome,MONDO:0009814,,MeSH ID:C537706,,,,OMIM ID:259690 +BMGC_DS11090,BMG_DS039325,,UMLS ID:C1850142,,,,,osteoma of middle ear,MONDO:0009811,,,,,,OMIM ID:259650 +BMGC_DS11091,BMG_DS039327,,UMLS ID:C1850155,,,,,multicentric osteolysis-nodulosis-arthropathy spectrum,MONDO:0018298,,,,,, +BMGC_DS11092,BMG_DS039328,Bruck syndrome 1,UMLS ID:C1850168,,,,,Bruck syndrome 1,MONDO:0009806,,MeSH ID:C537406,,,,OMIM ID:259450 +BMGC_DS11093,BMG_DS039329,"Osteogenesis Imperfecta, Type IX",UMLS ID:C1850169,,,,,osteogenesis imperfecta type 9,MONDO:0009805,,MeSH ID:C564921,,,,OMIM ID:259440 +BMGC_DS11094,BMG_DS039330,"Osteogenesis imperfecta congenita, microcephaly, and cataracts",UMLS ID:C1850184,,,,,congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,MONDO:0009803,,MeSH ID:C537558,,,,OMIM ID:259410 +BMGC_DS11095,BMG_DS039331,"Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski",UMLS ID:C1850185,,,,,"osteodysplasty, precocious, of Danks, Mayne, and Kozlowski",MONDO:0009802,,MeSH ID:C564922,,,,OMIM ID:259270 +BMGC_DS11096,BMG_DS039334,,UMLS ID:C1850269,,,,,"oral sensibility, disturbance of",MONDO:0009791,,,,,,OMIM ID:258800 +BMGC_DS11097,BMG_DS039335,Optic atrophy 6,UMLS ID:C1850281,,,,,optic atrophy 6,MONDO:0009786,,MeSH ID:C537127,optic atrophy 6,DOID:0111435,,OMIM ID:258500 +BMGC_DS11098,BMG_DS039336,Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria,UMLS ID:C1850302,,,,,ophthalmoplegic neuromuscular disorder with abnormal mitochondria,MONDO:0009784,,MeSH ID:C564925,,,,OMIM ID:258470 +BMGC_DS11099,BMG_DS039337,,UMLS ID:C1850303,,,,,autosomal recessive progressive external ophthalmoplegia,MONDO:0016810,,,,,, +BMGC_DS11100,BMG_DS039338,Ophthalmoplegia Totalis with Ptosis and Miosis,UMLS ID:C1850314,,,,,ophthalmoplegia totalis with ptosis and miosis,MONDO:0009782,,MeSH ID:C564927,,,,OMIM ID:258400 +BMGC_DS11101,BMG_DS039339,Onychotrichodysplasia and neutropenia,UMLS ID:C1850316,,,,,Onychotrichodysplasia and neutropenia,MONDO:0009781,,MeSH ID:C537752,,,,OMIM ID:258360 +BMGC_DS11102,BMG_DS039340,Omphalocele cleft palate syndrome lethal,UMLS ID:C1850317,,,,,lethal omphalocele-cleft palate syndrome,MONDO:0009780,,MeSH ID:C537747,,,,OMIM ID:258320 +BMGC_DS11103,BMG_DS039341,Omodysplasia type 1,UMLS ID:C1850318,,,,,autosomal recessive omodysplasia,MONDO:0009779,,MeSH ID:C537746,omodysplasia 1,DOID:0080844,,OMIM ID:258315 +BMGC_DS11104,BMG_DS039343,Oliver Syndrome,UMLS ID:C1850320,,,,,Oliver syndrome,MONDO:0009777,,MeSH ID:C564931,,,,OMIM ID:258200 +BMGC_DS11105,BMG_DS039344,,UMLS ID:C1850321,,,,,exstrophy-epispadias complex,MONDO:0017919,,,,,,OMIM ID:258040 +BMGC_DS11106,BMG_DS039345,Oculorenocerebellar syndrome,UMLS ID:C1850331,Severe oculo-renal-cerebellar syndrome (disorder) | Hunter Jurenka Thompson syndrome | Oculorenocerebellar syndrome | Severe oculo-renal-cerebellar syndrome | ORC (oculo-renal-cerebellar) syndrome,SNOMEDCT ID:1208341008,,,oculorenocerebellar syndrome,MONDO:0009772,,MeSH ID:C537739,,,,OMIM ID:257970 +BMGC_DS11107,BMG_DS039347,Oculopalatocerebral Syndrome,UMLS ID:C1850338,,,,,oculo-palato-cerebral syndrome,MONDO:0009769,,MeSH ID:C564935,,,,OMIM ID:257910 +BMGC_DS11108,BMG_DS039349,Mosaic variegated aneuploidy syndrome 1,UMLS ID:C1850343,,,,,mosaic variegated aneuploidy syndrome 1,MONDO:0009759,,MeSH ID:C536987,mosaic variegated aneuploidy syndrome,DOID:0080688,,OMIM ID:257300 +BMGC_DS11109,BMG_DS039350,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",UMLS ID:C1850362,,,,,congenital stationary night blindness 1B,MONDO:0009758,,,congenital stationary night blindness 1B,DOID:0110865,,OMIM ID:257270 | OMIM ID:604096 +BMGC_DS11110,BMG_DS039352,NEUTROPHIL ACTIN DYSFUNCTION,UMLS ID:C1850380,,,,,neutrophil actin dysfunction,MONDO:0009755,,,,,,OMIM ID:257150 +BMGC_DS11111,BMG_DS039353,"Neutropenia, Lethal Congenital, with Eosinophilia",UMLS ID:C1850381,,,,,"neutropenia, lethal congenital, with eosinophilia",MONDO:0009754,,MeSH ID:C564943,,,,OMIM ID:257100 +BMGC_DS11112,BMG_DS039355,"Neuropathy, Painful",UMLS ID:C1850383,,,,,"neuropathy, painful",MONDO:0009752,,MeSH ID:C564945,,,,OMIM ID:256870 +BMGC_DS11113,BMG_DS039358,GIANT AXONAL NEUROPATHY 1,UMLS ID:C1850386,,,,,giant axonal neuropathy 1,MONDO:0009749,,,,,,OMIM ID:605379 | OMIM ID:256850 +BMGC_DS11114,BMG_DS039360,"Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",UMLS ID:C1850395,,,,,hereditary sensory and autonomic neuropathy with spastic paraplegia,MONDO:0009748,,MeSH ID:C564948,,,,OMIM ID:256840 +BMGC_DS11115,BMG_DS039361,NAVAJO NEUROHEPATOPATHY,UMLS ID:C1850406,,,,,mitochondrial DNA depletion syndrome 6 (hepatocerebral type),MONDO:0009747,,,,,,OMIM ID:256810 +BMGC_DS11116,BMG_DS039362,Navajo Familial Neurogenic Arthropathy,UMLS ID:C1850407,,,,,,,,MeSH ID:C538344,mitochondrial DNA depletion syndrome 6,DOID:0080125,, +BMGC_DS11117,BMG_DS039363,"CEROID LIPOFUSCINOSIS, NEURONAL, 5",UMLS ID:C1850442,,,,,neuronal ceroid lipofuscinosis 5,MONDO:0009745,,,,,,OMIM ID:256731 | OMIM ID:608102 +BMGC_DS11118,BMG_DS039364,"CEROID LIPOFUSCINOSIS, NEURONAL, 1",UMLS ID:C1850451,,,,,neuronal ceroid lipofuscinosis 1,MONDO:0009744,,,,,,OMIM ID:600722 | OMIM ID:256730 | OMIM ID:256730 | OMIM ID:214200 +BMGC_DS11119,BMG_DS039367,Nephrosis deafness urinary tract digital malformation,UMLS ID:C1850552,,,,,nephrosis-deafness-urinary tract-digital malformations syndrome,MONDO:0009731,,MeSH ID:C536402,,,,OMIM ID:256200 +BMGC_DS11120,BMG_DS039369,Atelosteogenesis type 2,UMLS ID:C1850554,Atelosteogenesis type 2 | Atelosteogenesis de la Chapelle type | Atelosteogenesis type 2 (disorder),SNOMEDCT ID:254055004,,,atelosteogenesis type II,MONDO:0009727,,MeSH ID:C535395,,,,OMIM ID:256050 +BMGC_DS11121,BMG_DS039370,De La Chapelle Dysplasia,UMLS ID:C1850555,,,,,de la Chapelle dysplasia,MONDO:0800307,,MeSH ID:C535395,,,, +BMGC_DS11122,BMG_DS039371,Nakajo syndrome,UMLS ID:C1850568,"Autoinflammation, lipodystrophy and dermatosis syndrome | Japanese autoinflammatory syndrome with lipodystrophy | Nakajo-Nishimura syndrome | Nakajo syndrome | Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) | Proteasome-associated autoinflammatory syndrome",SNOMEDCT ID:702449004,,,proteosome-associated autoinflammatory syndrome,MONDO:0009726,,MeSH ID:C538334,,,, +BMGC_DS11123,BMG_DS039372,Nemaline Myopathy 2,UMLS ID:C1850569,,,,,nemaline myopathy 2,MONDO:0009725,,MeSH ID:C538349,nemaline myopathy 2,DOID:0110928,,OMIM ID:256030 +BMGC_DS11124,BMG_DS039375,Leigh Syndrome due to Mitochondrial Complex IV Deficiency,UMLS ID:C1850599,,,,,,,,MeSH ID:C564963,,,, +BMGC_DS11125,BMG_DS039377,Native American myopathy,UMLS ID:C1850625,"Congenital myopathy, cleft palate. malignant hyperthermia syndrome | Native American myopathy | Native American myopathy (disorder)",SNOMEDCT ID:723439002,,,Bailey-Bloch congenital myopathy,MONDO:0009722,,MeSH ID:C538343,Native American myopathy,DOID:0060346,,OMIM ID:255995 +BMGC_DS11126,BMG_DS039378,Nathalie syndrome,UMLS ID:C1850626,Deafness with cataract and skeletal anomaly syndrome (disorder) | Deafness with cataract and skeletal anomaly syndrome | Nathalie syndrome,SNOMEDCT ID:716170005,,,Nathalie syndrome,MONDO:0009721,,MeSH ID:C538342,,,,OMIM ID:255990 +BMGC_DS11127,BMG_DS039379,Nasodigitoacoustic syndrome,UMLS ID:C1850627,Keipert syndrome (disorder) | Nasodigitoacoustic syndrome | Keipert syndrome,SNOMEDCT ID:763774001,,,Keipert syndrome,MONDO:0009720,,MeSH ID:C538337,Keipert syndrome,DOID:0111842,,OMIM ID:255980 | OMIM ID:301026 +BMGC_DS11128,BMG_DS039381,"Myosclerosis, Autosomal Recessive",UMLS ID:C1850671,,,,,myosclerosis,MONDO:0009714,,MeSH ID:C564968,,,,OMIM ID:255600 +BMGC_DS11129,BMG_DS039382,Minicore Myopathy with External Ophthalmoplegia,UMLS ID:C1850674,,,,,congenital multicore myopathy with external ophthalmoplegia,MONDO:0009712,,MeSH ID:C564969,,,,OMIM ID:255320 +BMGC_DS11130,BMG_DS039383,"Myopathy, Hyaline Body, Autosomal Recessive",UMLS ID:C1850709,,,,,"myopathy, myosin storage, autosomal recessive",MONDO:0009708,,MeSH ID:C564970,,,,OMIM ID:255160 +BMGC_DS11131,BMG_DS039385,"MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE",UMLS ID:C1850718,,,,,hereditary myopathy with lactic acidosis due to ISCU deficiency,MONDO:0009706,,,,,,OMIM ID:255125 +BMGC_DS11132,BMG_DS039387,"Myopathy, Granulovacuolar Lobular, with Electrical Myotonia",UMLS ID:C1850745,,,,,"myopathy, granulovacuolar lobular, with electrical myotonia",MONDO:0009701,,MeSH ID:C564974,,,,OMIM ID:254950 +BMGC_DS11133,BMG_DS039388,"Myopathy, congenital nonprogressive with Moebius and Robin sequences",UMLS ID:C1850746,,,,,Carey-Fineman-Ziter syndrome,MONDO:0031415,,MeSH ID:C536102,,,, +BMGC_DS11134,BMG_DS039391,,UMLS ID:C1850764,,,,,myoclonic epilepsy of Lafora 2,MONDO:0800306,,,,,,OMIM ID:620681 +BMGC_DS11135,BMG_DS039392,,UMLS ID:C1850778,,,,,"myoclonic epilepsy, juvenile, susceptibility to, 1",MONDO:0020752,,,,,, +BMGC_DS11136,BMG_DS039393,"Myeloproliferative Disease, Autosomal Recessive",UMLS ID:C1850779,,,,,"myeloproliferative disease, autosomal recessive",MONDO:0009695,,MeSH ID:C564977,,,,OMIM ID:254700 +BMGC_DS11137,BMG_DS039394,Congenital myasthenic syndrome ib,UMLS ID:C1850792,,,,,congenital myasthenic syndrome 10,MONDO:0009690,,MeSH ID:C536089,,,,OMIM ID:609456 | OMIM ID:254300 +BMGC_DS11138,BMG_DS039395,"Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors",UMLS ID:C1850806,,,,,"myasthenia, congenital, refractory to acetylcholinesterase inhibitors",MONDO:0009687,,MeSH ID:C564979,,,,OMIM ID:254190 +BMGC_DS11139,BMG_DS039396,"Musk, Inability to Smell",UMLS ID:C1850807,,,,,"musk, inability to smell",MONDO:0009686,,MeSH ID:C564980,,,,OMIM ID:254150 +BMGC_DS11140,BMG_DS039397,"Muscular Hypertonia, Lethal",UMLS ID:C1850827,,,,,"muscular hypertonia, lethal",MONDO:0009684,,MeSH ID:C564982,,,,OMIM ID:254120 +BMGC_DS11141,BMG_DS039398,"Muscular Dystrophy, Congenital, with Rapid Progression",UMLS ID:C1850840,,,,,"muscular dystrophy, congenital, with rapid progression",MONDO:0009682,,MeSH ID:C564983,,,,OMIM ID:254100 +BMGC_DS11142,BMG_DS039399,"Muscular dystrophy, congenital, infantile with cataract and hypogonadism",UMLS ID:C1850864,,,,,congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,MONDO:0009680,,MeSH ID:C537385,,,,OMIM ID:254000 +BMGC_DS11143,BMG_DS039401,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",UMLS ID:C1850889,,,,,autosomal recessive limb-girdle muscular dystrophy type 2B,MONDO:0009676,,,,,,OMIM ID:253601 +BMGC_DS11144,BMG_DS039402,Gastrocutaneous syndrome,UMLS ID:C1850899,Gastrocutaneous syndrome | Gastrocutaneous syndrome (disorder),SNOMEDCT ID:782946000,,,gastrocutaneous syndrome,MONDO:0007651,,MeSH ID:C535651,,,,OMIM ID:137270 +BMGC_DS11145,BMG_DS039405,"Gamma-A-Globulin, Defect in Assembly of",UMLS ID:C1850934,,,,,"gamma-A-globulin, defect in assembly of",MONDO:0007643,,MeSH ID:C564991,,,,OMIM ID:137050 +BMGC_DS11146,BMG_DS039406,"FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",UMLS ID:C1850938,,,,,Sorsby fundus dystrophy,MONDO:0007640,,,Sorsby's fundus dystrophy,DOID:0090114,,OMIM ID:136900 +BMGC_DS11147,BMG_DS039408,"Corneal dystrophy, Fuchs' endothelial, 1",UMLS ID:C1850959,,,,,"corneal dystrophy, Fuchs endothelial, 1",MONDO:0007637,,MeSH ID:C535478,,,,OMIM ID:136800 +BMGC_DS11148,BMG_DS039412,"Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness",UMLS ID:C1850982,,,,,"Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness",MONDO:0007633,,MeSH ID:C564999,,,,OMIM ID:136600 +BMGC_DS11149,BMG_DS039417,"fourth cranial nerve palsy, familial congenital",UMLS ID:C1850996,,,,,familial congenital palsy of trochlear nerve,MONDO:0007626,,MeSH ID:C565007,,,,OMIM ID:136480 +BMGC_DS11150,BMG_DS039421,"FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION AND PROPORTIONATE SHORT STATURE",UMLS ID:C1851081,,,,,Eng-Strom syndrome,MONDO:0007618,,,,,,OMIM ID:135950 +BMGC_DS11151,BMG_DS039423,LAURIN-SANDROW SYNDROME,UMLS ID:C1851100,,,,,laurin-Sandrow syndrome,MONDO:0007615,,,Laurin-Sandrow syndrome,DOID:0111350,,OMIM ID:135750 | OMIM ID:605522 +BMGC_DS11152,BMG_DS039424,"Laurin-Sandrow Syndrome, Segmental",UMLS ID:C1851101,,,,,,,,MeSH ID:C535689,,,, +BMGC_DS11153,BMG_DS039425,"Fibrosis Of Extraocular Muscles, Congenital, 1",UMLS ID:C1851102,,,,,congenital fibrosis of extraocular muscles type 1,MONDO:0021083,,MeSH ID:C567739,,,,OMIM ID:135700 +BMGC_DS11154,BMG_DS039426,Jones syndrome,UMLS ID:C1851112,Gingival fibromatosis with progressive deafness syndrome (disorder) | Gingival fibromatosis with progressive deafness syndrome | Jones syndrome,SNOMEDCT ID:722449007,,,gingival fibromatosis-progressive deafness syndrome,MONDO:0007612,,MeSH ID:C535886,,,,OMIM ID:135550 +BMGC_DS11155,BMG_DS039427,"Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia",UMLS ID:C1851120,,,,,gingival fibromatosis-hypertrichosis syndrome,MONDO:0007610,,MeSH ID:C565016,,,,OMIM ID:135400 +BMGC_DS11156,BMG_DS039428,"Desmoid disease, hereditary",UMLS ID:C1851124,,,,,,,,MeSH ID:C535944,hereditary desmoid disease,DOID:0111349,, +BMGC_DS11157,BMG_DS039429,SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS,UMLS ID:C1851152,,,,,,,,,,,,OMIM ID:134934 +BMGC_DS11158,BMG_DS039430,Fibrinolytic Defect,UMLS ID:C1851184,,,,,fibrinolytic defect,MONDO:0007605,,MeSH ID:C565017,,,,OMIM ID:134900 +BMGC_DS11159,BMG_DS039432,Ectopia lentis isolated,UMLS ID:C1851286,,,,,isolated ectopia lentis,MONDO:0015998,,MeSH ID:C536184,autosomal dominant isolated ectopia lentis 1,DOID:0111150,, +BMGC_DS11160,BMG_DS039433,"Iron Overload, Autosomal Dominant",UMLS ID:C1851316,,,,,hemochromatosis type 5,MONDO:0014225,,MeSH ID:C565020,,,,OMIM ID:615517 +BMGC_DS11161,BMG_DS039434,"Familial Mediterranean Fever, Autosomal Dominant",UMLS ID:C1851347,,,,,"familial Mediterranean fever, autosomal dominant",MONDO:0007601,Familial Mediterranean Fever,MeSH ID:D010505,,,,OMIM ID:134610 +BMGC_DS11162,BMG_DS039435,Familial Multiple Coagulation Factor Deficiency VI,UMLS ID:C1851374,,,,,"factor 9 and Factor XI, combined deficiency of",MONDO:0007599,,MeSH ID:C565022,,,,OMIM ID:134540 +BMGC_DS11163,BMG_DS039437,Familial Multiple Coagulation Factor Deficiency II,UMLS ID:C1851376,,,,,"factor VIII and Factor IX, combined deficiency of",MONDO:0007597,,MeSH ID:C565024,,,,OMIM ID:134510 +BMGC_DS11164,BMG_DS039438,Familial Multiple Coagulation Factor Deficiency IV,UMLS ID:C1851377,,,,,"factor VII and Factor VIII, combined deficiency of",MONDO:0007595,,MeSH ID:C565025,,,,OMIM ID:134430 +BMGC_DS11165,BMG_DS039439,Factor V Excess with Spontaneous Thrombosis,UMLS ID:C1851378,,,,,factor 5 excess with spontaneous thrombosis,MONDO:0007594,,MeSH ID:C565026,,,,OMIM ID:134400 +BMGC_DS11166,BMG_DS039440,"Facial Palsy, Familial Recurrent Peripheral",UMLS ID:C1851399,,,,,familial recurrent peripheral facial palsy,MONDO:0007592,,MeSH ID:C565028,,,,OMIM ID:134200 +BMGC_DS11167,BMG_DS039441,Exudative vitreoretinopathy 1,UMLS ID:C1851402,,,,,exudative vitreoretinopathy 1,MONDO:0007589,,MeSH ID:C536382,exudative vitreoretinopathy 1,DOID:0111412,,OMIM ID:133780 +BMGC_DS11168,BMG_DS039443,"EXOSTOSES, MULTIPLE, TYPE II",UMLS ID:C1851413,,,,,"exostoses, multiple, type 2",MONDO:0007586,,,,,,OMIM ID:133701 | OMIM ID:608210 +BMGC_DS11169,BMG_DS039444,"Exostoses with Anetodermia and Brachydactyly, Type E",UMLS ID:C1851428,,,,,exostoses-anetodermia-brachydactyly type E syndrome,MONDO:0007584,,MeSH ID:C565034,,,,OMIM ID:133690 +BMGC_DS11170,BMG_DS039445,Cerebrooculofacioskeletal Syndrome 3,UMLS ID:C1851443,,,,,cerebrooculofacioskeletal syndrome 3,MONDO:0014696,,MeSH ID:C565035,cerebrooculofacioskeletal syndrome 3,DOID:0080913,,OMIM ID:616570 +BMGC_DS11171,BMG_DS039446,"Exchondrosis Of Pinna, Posterior",UMLS ID:C1851463,,,,,"exchondrosis of pinna, posterior",MONDO:0007581,,MeSH ID:C565036,,,,OMIM ID:133500 +BMGC_DS11172,BMG_DS039448,Greither Disease,UMLS ID:C1851480,,,,,transgrediens et progrediens palmoplantar keratoderma,MONDO:0018853,Erythrokeratodermia Variabilis,MeSH ID:D056266,erythrokeratodermia variabilis,DOID:0050467,, +BMGC_DS11173,BMG_DS039449,Erythrokeratodermia with ataxia,UMLS ID:C1851481,Spinocerebellar ataxia type 34 (disorder) | Spinocerebellar ataxia type 34 | Erythrokeratodermia with ataxia | Spinocerebellar ataxia and erythrokeratodermia,SNOMEDCT ID:719255000,,,spinocerebellar ataxia type 34,MONDO:0007574,,MeSH ID:C535738,,,,OMIM ID:133190 +BMGC_DS11174,BMG_DS039450,Erythema Palmare Hereditarium,UMLS ID:C1851502,,,,,erythema palmare hereditarium,MONDO:0007570,,MeSH ID:C565041,,,,OMIM ID:133000 +BMGC_DS11175,BMG_DS039451,"Erythema nodosum, familial",UMLS ID:C1851503,,,,,"erythema nodosum, familial",MONDO:0007569,,MeSH ID:C535510,,,,OMIM ID:132990 +BMGC_DS11176,BMG_DS039452,"Aortic aneurysm, familial thoracic 4",UMLS ID:C1851504,,,,,"aortic aneurysm, familial thoracic 4",MONDO:0007568,,MeSH ID:C537784,,,,OMIM ID:132900 +BMGC_DS11177,BMG_DS039455,,UMLS ID:C1851526,,,,,familial cylindromatosis,MONDO:0007565,,,,,,OMIM ID:132700 +BMGC_DS11178,BMG_DS039456,"Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",UMLS ID:C1851536,,,,,"multiple epiphyseal dysplasia, Beighton type",MONDO:0007562,,MeSH ID:C565046,multiple epiphyseal dysplasia with myopia and deafness,DOID:0111348,,OMIM ID:132450 +BMGC_DS11179,BMG_DS039459,Benign Occipital Epilepsy,UMLS ID:C1851549,,,,,self-limited childhood occipital epilepsy,MONDO:0007558,"Epilepsies, Partial",MeSH ID:D004828,,,,OMIM ID:132090 +BMGC_DS11180,BMG_DS039460,Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase,UMLS ID:C1851570,,,,,epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase,MONDO:0007553,,MeSH ID:C565049,,,,OMIM ID:131880 +BMGC_DS11181,BMG_DS039461,Transient bullous dermolysis of the newborn,UMLS ID:C1851573,,,,,transient bullous dermolysis of the newborn,MONDO:0007548,,MeSH ID:C536979,transient bullous dermolysis of the newborn,DOID:0111345,,OMIM ID:131705 +BMGC_DS11182,BMG_DS039464,"MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",UMLS ID:C1851585,,,,,"myeloproliferative disorder, chronic, with eosinophilia",MONDO:0007546,,,myeloproliferative disorder with eosinophilia,DOID:0111344,,OMIM ID:131440 +BMGC_DS11183,BMG_DS039465,EOSINOPHILOPENIA,UMLS ID:C1851586,,,,,Eosinophilopenia,MONDO:0007545,,,,,,OMIM ID:131430 +BMGC_DS11184,BMG_DS039466,,UMLS ID:C1851649,,,,,"endometriosis, susceptibility to, 1",MONDO:0007541,,,,,,OMIM ID:131200 +BMGC_DS11185,BMG_DS039468,LATERAL MENINGOCELE SYNDROME,UMLS ID:C1851710,,,,,lateral meningocele syndrome,MONDO:0007537,,,lateral meningocele syndrome,DOID:0111343,,OMIM ID:600276 | OMIM ID:130720 +BMGC_DS11186,BMG_DS039469,"Emphysema, Hereditary Pulmonary",UMLS ID:C1851718,,,,,"emphysema, hereditary pulmonary",MONDO:0007535,,MeSH ID:C565057,,,,OMIM ID:130700 +BMGC_DS11187,BMG_DS039470,Elliptocytosis 2,UMLS ID:C1851741,,,,,elliptocytosis 2,MONDO:0007533,,MeSH ID:C565058,,,,OMIM ID:130600 +BMGC_DS11188,BMG_DS039471,,UMLS ID:C1851756,,,,,electroencephalographic peculiarity: fronto-precentral beta wave groups,MONDO:0007531,,,,,,OMIM ID:130300 +BMGC_DS11189,BMG_DS039472,,UMLS ID:C1851757,,,,,electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon,MONDO:0007530,,,,,,OMIM ID:130200 +BMGC_DS11190,BMG_DS039473,EDS VIIB,UMLS ID:C1851801,,,,,Ehlers-Danlos syndrome type 7B,MONDO:0020522,,MeSH ID:C565061,Ehlers-Danlos syndrome arthrochalasia type 2,DOID:0080728,,OMIM ID:617821 +BMGC_DS11191,BMG_DS039474,"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1",UMLS ID:C1851841,,,,,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1",MONDO:0007520,,,,,,OMIM ID:129900 +BMGC_DS11192,BMG_DS039475,"Edema, Familial Idiopathic, Prepubertal",UMLS ID:C1851847,,,,,"edema, familial idiopathic, prepubertal",MONDO:0007518,,MeSH ID:C565063,,,,OMIM ID:129840 +BMGC_DS11193,BMG_DS039477,Ectrodactyly and Ectodermal Dysplasia without Cleft Lip-Palate,UMLS ID:C1851849,,,,,ectrodactyly and ectodermal dysplasia without cleft lip/palate,MONDO:0007516,,MeSH ID:C565065,,,,OMIM ID:129810 +BMGC_DS11194,BMG_DS039478,Ectodermal dysplasia adrenal cyst,UMLS ID:C1851850,,,,,ectodermal dysplasia with adrenal cyst,MONDO:0007513,,MeSH ID:C538015,,,,OMIM ID:129550 +BMGC_DS11195,BMG_DS039481,OROFACIAL CLEFT 8,UMLS ID:C1851878,,,,,orofacial cleft 8,MONDO:0029145,,,orofacial cleft 8,DOID:0080401,,OMIM ID:603273 | OMIM ID:618149 +BMGC_DS11196,BMG_DS039482,ECHO VIRUS 11 SENSITIVITY,UMLS ID:C1851888,,,,,,,,,,,,OMIM ID:129150 +BMGC_DS11197,BMG_DS039483,,UMLS ID:C1851895,,,,,"earring holes, natural",MONDO:0007505,,,,,,OMIM ID:129000 +BMGC_DS11198,BMG_DS039484,,UMLS ID:C1851896,,,,,thickened earlobes-conductive deafness syndrome,MONDO:0007504,,,,,,OMIM ID:128980 +BMGC_DS11199,BMG_DS039485,,UMLS ID:C1851899,,,,,ear without helix,MONDO:0007503,,,,,,OMIM ID:128800 +BMGC_DS11200,BMG_DS039486,,UMLS ID:C1851900,,,,,"ear pits, posterior helical",MONDO:0007502,,,,,,OMIM ID:128710 +BMGC_DS11201,BMG_DS039487,,UMLS ID:C1851901,,,,,ear folding,MONDO:0007499,,,,,,OMIM ID:128500 +BMGC_DS11202,BMG_DS039488,,UMLS ID:C1851905,,,,,"ear antitragus, tag at base of",MONDO:0007497,,,,,,OMIM ID:128290 +BMGC_DS11203,BMG_DS039489,Dopa-Responsive Dystonia,UMLS ID:C1851920,,,,,dopa-responsive dystonia | dystonia 5,MONDO:0016812;MONDO:0007495,,MeSH ID:C538007,,,,OMIM ID:128230 +BMGC_DS11204,BMG_DS039491,Paroxysmal choreoathetosis,UMLS ID:C1851936,Paroxysmal choreoathetosis | Paroxysmal choreoathetosis (disorder) | Paroxysmal dyskinesia,SNOMEDCT ID:49949003,,,,,,,,,, +BMGC_DS11205,BMG_DS039492,Dystonia musculorum deformans 4,UMLS ID:C1851943,,,,,torsion dystonia 4,MONDO:0007493,,MeSH ID:C538004,,,,OMIM ID:128101 +BMGC_DS11206,BMG_DS039493,"DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",UMLS ID:C1851945,,,,,early-onset generalized limb-onset dystonia,MONDO:0007492,,,,,,OMIM ID:128100 | OMIM ID:605204 +BMGC_DS11207,BMG_DS039494,Dystelephalangy,UMLS ID:C1851955,,,,,dystelephalangy,MONDO:0007491,,MeSH ID:C538000,,,,OMIM ID:128000 +BMGC_DS11208,BMG_DS039498,,UMLS ID:C1851967,,,,,"dyslexia, susceptibility to, 1",MONDO:0007487,,,,,,OMIM ID:127700 +BMGC_DS11209,BMG_DS039502,"Dwarfism, Levi Type",UMLS ID:C1851994,,,,,"dwarfism, Levi type",MONDO:0007479,,MeSH ID:C565081,,,,OMIM ID:127100 +BMGC_DS11210,BMG_DS039503,Dwarfism tall vertebrae,UMLS ID:C1851996,,,,,dwarfism with tall vertebrae,MONDO:0020792,,MeSH ID:C535725,,,,OMIM ID:126950 +BMGC_DS11211,BMG_DS039506,"Duodenal Ulcer, Hyperpepsinogenemic I",UMLS ID:C1852008,,,,,"duodenal ulcer, hyperpepsinogenemic 1",MONDO:0007475,,MeSH ID:C565086,,,,OMIM ID:126850 +BMGC_DS11212,BMG_DS039507,Duodenal ulcer due to antral G-cell hyperfunction,UMLS ID:C1852009,,,,,duodenal ulcer due to antral G-cell hyperfunction,MONDO:0007474,,MeSH ID:C535721,,,,OMIM ID:126840 +BMGC_DS11213,BMG_DS039508,Doughnut lesion of calvaria and bone fragility syndrome,UMLS ID:C1852022,Doughnut lesion of calvaria and bone fragility syndrome (disorder) | Doughnut lesion of calvaria and bone fragility syndrome | Calvarial doughnut lesion with bone fragility syndrome | Familial doughnut lesions of skull,SNOMEDCT ID:720598005,,,calvarial doughnut lesions-bone fragility syndrome,MONDO:0007470,,,,,,OMIM ID:126550 +BMGC_DS11214,BMG_DS039509,,UMLS ID:C1852023,,,,,double nail for fifth toe,MONDO:0007469,,,,,,OMIM ID:126500 +BMGC_DS11215,BMG_DS039511,Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature,UMLS ID:C1852062,,,,,distichiasis with congenital anomalies of the heart and peripheral vasculature,MONDO:0007465,,MeSH ID:C565092,,,,OMIM ID:126320 +BMGC_DS11216,BMG_DS039514,,UMLS ID:C1852074,,,,,"discrimination, Two-point, reduction 1N",MONDO:0007460,,,,,,OMIM ID:126180 +BMGC_DS11217,BMG_DS039515,Digitotalar Dysmorphism,UMLS ID:C1852085,,,,,"digitotalar dysmorphism; ulnar drift, hereditary | digitotalar dysmorphism",MONDO:0007458;MONDO:0015240,,MeSH ID:C565097,distal arthrogryposis type 1,DOID:0111596,,OMIM ID:126050 +BMGC_DS11218,BMG_DS039516,,UMLS ID:C1852086,,,,,"diastema, dental medial",MONDO:0007457,,,,,,OMIM ID:125900 +BMGC_DS11219,BMG_DS039518,"DIABETES MELLITUS, INSULIN-DEPENDENT, 2",UMLS ID:C1852092,,,,,type 1 diabetes mellitus 2,MONDO:0007454,,,,,,OMIM ID:125852 +BMGC_DS11220,BMG_DS039519,"Maturity-Onset Diabetes of the Young, Type 1",UMLS ID:C1852093,,,,,maturity-onset diabetes of the young type 1,MONDO:0007452,,MeSH ID:C565101,,,,OMIM ID:125850 +BMGC_DS11221,BMG_DS039520,KERATOSIS PALMOPLANTARIS STRIATA II,UMLS ID:C1852127,,,,,keratosis palmoplantaris striata 2,MONDO:0013034,,,,,,OMIM ID:125647 | OMIM ID:612908 +BMGC_DS11222,BMG_DS039521,Dermoodontodysplasia,UMLS ID:C1852144,,,,,dermo-odonto dysplasia,MONDO:0007449,,MeSH ID:C565103,,,,OMIM ID:125640 +BMGC_DS11223,BMG_DS039522,Familial dermographism,UMLS ID:C1852145,,,,,familial dermatographia,MONDO:0007448,,MeSH ID:C536612,,,,OMIM ID:125635 +BMGC_DS11224,BMG_DS039523,DERMODISTORTIVE URTICARIA,UMLS ID:C1852146,,,,,,,,,,,,OMIM ID:125630 +BMGC_DS11225,BMG_DS039524,,UMLS ID:C1852150,,,,,isolated congenital adermatoglyphia,MONDO:0007619,,,,,,OMIM ID:136000 +BMGC_DS11226,BMG_DS039527,"Dermal Ridges, Patternless",UMLS ID:C1852160,,,,,"dermal Ridges, patternless",MONDO:0007444,,MeSH ID:C565109,,,,OMIM ID:125540 +BMGC_DS11227,BMG_DS039529,,UMLS ID:C1852197,,,,,major affective disorder 1,MONDO:0007440,,,,,,OMIM ID:125480 +BMGC_DS11228,BMG_DS039530,Deoxyribose-5-Phosphate Aldolase Deficiency,UMLS ID:C1852200,,,,,deoxyribose-5-phosphate aldolase deficiency,MONDO:0007439,,MeSH ID:C565112,,,,OMIM ID:125460 +BMGC_DS11229,BMG_DS039531,Dentin dysplasia sclerotic bones,UMLS ID:C1852201,,,,,dentin dysplasia-sclerotic bones syndrome,MONDO:0007438,,MeSH ID:C538213,,,,OMIM ID:125440 +BMGC_DS11230,BMG_DS039532,"Failure of Tooth Eruption, Primary",UMLS ID:C1852222,,,,,primary failure of tooth eruption,MONDO:0007434,,MeSH ID:C565114,primary failure of tooth eruption,DOID:0111341,,OMIM ID:125350 +BMGC_DS11231,BMG_DS039533,Dementia-Parkinsonism With Non-Alzheimer Amyloid Plaques,UMLS ID:C1852223,,,,,dementia/parkinsonism with non-Alzheimer amyloid plaques,MONDO:0007433,,MeSH ID:C565115,,,,OMIM ID:125320 +BMGC_DS11232,BMG_DS039537,Auditory neuropathy,UMLS ID:C1852271,,,,,auditory neuropathy,MONDO:0021944,,MeSH ID:C538268,,,,OMIM ID:MTHU018711 +BMGC_DS11233,BMG_DS039539,Deafness with Anhidrotic Ectodermal Dysplasia,UMLS ID:C1852279,,,,,deafness with anhidrotic ectodermal dysplasia,MONDO:0007427,,MeSH ID:C565119,,,,OMIM ID:125050 +BMGC_DS11234,BMG_DS039540,"Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease",UMLS ID:C1852280,,,,,"deafness, sensorineural, with peripheral neuropathy and arterial disease",MONDO:0007425,,MeSH ID:C565120,,,,OMIM ID:124950 +BMGC_DS11235,BMG_DS039541,"Deafness, Autosomal Dominant 1",UMLS ID:C1852282,,,,,autosomal dominant nonsyndromic hearing loss 1,MONDO:0007424,,MeSH ID:C565121,,,,OMIM ID:124900 +BMGC_DS11236,BMG_DS039542,"Deafness, Mid-Tone Neural",UMLS ID:C1852283,,,,,"deafness, mid-tone neural",MONDO:0007423,,MeSH ID:C565122,,,,OMIM ID:124700 +BMGC_DS11237,BMG_DS039544,,UMLS ID:C1852294,,,,,Darwinian tubercle of pinna,MONDO:0007418,,,,,,OMIM ID:124300 | OMIM ID:124400 +BMGC_DS11238,BMG_DS039545,"Darier Disease, Acral Hemorrhagic Type",UMLS ID:C1852296,,,,,,,,MeSH ID:C565125,,,, +BMGC_DS11239,BMG_DS039546,"Darier Disease, Segmental",UMLS ID:C1852297,,,,,,,,MeSH ID:C565126,,,, +BMGC_DS11240,BMG_DS039548,Mitochondrial Complex III Deficiency,UMLS ID:C1852372,,,,,mitochondrial complex III deficiency,MONDO:0015448,,MeSH ID:C565128,mitochondrial complex III deficiency,DOID:0111139,, +BMGC_DS11241,BMG_DS039549,Mitochondrial encephalopathy,UMLS ID:C1852373,,,,,,,,MeSH ID:C538525,,,,OMIM ID:MTHU018751 +BMGC_DS11242,BMG_DS039552,Cutis Gyrata Syndrome of Beare And Stevenson,UMLS ID:C1852406,,,,,Beare-Stevenson cutis gyrata syndrome,MONDO:0007412,,MeSH ID:C565129,,,,OMIM ID:123790 +BMGC_DS11243,BMG_DS039555,"CATARACT, COPPOCK-LIKE",UMLS ID:C1852438,,,,,,,,,,,,OMIM ID:604307 +BMGC_DS11244,BMG_DS039558,"Cryptophthalmos, Unilateral or Bilateral, Isolated",UMLS ID:C1852453,,,,,isolated cryptophthalmia,MONDO:0007410,,MeSH ID:C565138,isolated cryptophthalmia,DOID:0111717,,OMIM ID:123570 +BMGC_DS11245,BMG_DS039560,"Cryptotia, Familial",UMLS ID:C1852455,,,,,"cryptotia, familial",MONDO:0007408,,MeSH ID:C565140,,,,OMIM ID:123557 +BMGC_DS11246,BMG_DS039561,"Cryoglobulinemia, Familial Mixed",UMLS ID:C1852456,,,,,Cryoglobulinemic vasculitis,MONDO:0007407,,MeSH ID:C565141,,,,OMIM ID:123550 +BMGC_DS11247,BMG_DS039562,"Cryofibrinogenemia, Familial Primary",UMLS ID:C1852457,,,,,"cryofibrinogenemia, familial primary",MONDO:0007406,,MeSH ID:C565142,,,,OMIM ID:123540 +BMGC_DS11248,BMG_DS039566,"CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",UMLS ID:C1852502,,,,,"craniometaphyseal dysplasia, autosomal dominant",MONDO:0007397,,,autosomal dominant craniometaphyseal dysplasia,DOID:0080801,,OMIM ID:123000 | OMIM ID:605145 +BMGC_DS11249,BMG_DS039567,Craniofacial deafness hand syndrome,UMLS ID:C1852510,Craniofacial deafness hand syndrome (disorder) | Craniofacial deafness hand syndrome | Sommer Young Wee Frye syndrome,SNOMEDCT ID:702362004,,,craniofacial-deafness-hand syndrome,MONDO:0007395,,MeSH ID:C536453,craniofacial-deafness-hand syndrome,DOID:0111336,,OMIM ID:122880 +BMGC_DS11250,BMG_DS039568,Cranioacrofacial Syndrome,UMLS ID:C1852512,,,,,cranioacrofacial syndrome,MONDO:0007393,,MeSH ID:C565147,,,,OMIM ID:122850 +BMGC_DS11251,BMG_DS039569,Coxoauricular Syndrome,UMLS ID:C1852513,,,,,coxoauricular syndrome,MONDO:0007392,,MeSH ID:C565148,,,,OMIM ID:122780 +BMGC_DS11252,BMG_DS039572,,UMLS ID:C1852523,,,,,congenitally short costocoracoid ligament,MONDO:0007388,,,,,,OMIM ID:122580 +BMGC_DS11253,BMG_DS039573,Corticosteroid-Binding Globulin Deficiency,UMLS ID:C1852529,,,,,corticosteroid-binding globulin deficiency,MONDO:0012675,,MeSH ID:C565152,corticosteroid-binding globulin deficiency,DOID:0090030,,OMIM ID:611489 +BMGC_DS11254,BMG_DS039574,"Coronary Artery Dissection, Spontaneous",UMLS ID:C1852540,,,,,idiopathic spontaneous coronary artery dissection,MONDO:0007385,,MeSH ID:C565153,,,,OMIM ID:122455 +BMGC_DS11255,BMG_DS039577,Epithelial Recurrent Erosion Dystrophy,UMLS ID:C1852551,,,,,epithelial recurrent erosion dystrophy,MONDO:0007381,,MeSH ID:C565155,epithelial recurrent erosion dystrophy,DOID:0070337,,OMIM ID:122400 +BMGC_DS11256,BMG_DS039578,"Corneal Dystrophy, Posterior Polymorphous, 1",UMLS ID:C1852555,,,,,posterior polymorphous corneal dystrophy 1,MONDO:0007378,,MeSH ID:C562745,posterior polymorphous corneal dystrophy,DOID:0060457,,OMIM ID:122000 +BMGC_DS11257,BMG_DS039580,,UMLS ID:C1852557,,,,,"cornea plana 1, autosomal dominant",MONDO:0007372,,,,,,OMIM ID:121400 +BMGC_DS11258,BMG_DS039581,Cornea guttata with anterior polar cataract,UMLS ID:C1852558,,,,,cornea guttata with anterior polar cataracts,MONDO:0007371,,MeSH ID:C535471,,,,OMIM ID:121390 +BMGC_DS11259,BMG_DS039582,,UMLS ID:C1852561,,,,,"coracoclavicular joint, anomalous",MONDO:0007370,,,,,,OMIM ID:121350 +BMGC_DS11260,BMG_DS039583,"Copper deficiency, familial benign",UMLS ID:C1852576,,,,,familial benign copper deficiency,MONDO:0007368,,MeSH ID:C535468,,,,OMIM ID:121270 +BMGC_DS11261,BMG_DS039584,"Febrile Convulsions, Familial, 1",UMLS ID:C1852577,,,,,"febrile seizures, familial, 1",MONDO:0007367,,MeSH ID:C565162,,,,OMIM ID:121210 +BMGC_DS11262,BMG_DS039585,,UMLS ID:C1852581,,,,,"seizures, benign familial neonatal, 2",MONDO:0007366,,,,,,OMIM ID:121201 +BMGC_DS11263,BMG_DS039588,"Arthrogryposis, distal, type 2E",UMLS ID:C1852597,,,,,"arthrogryposis, distal, type 2E",MONDO:0007364,,MeSH ID:C535384,,,,OMIM ID:121070 +BMGC_DS11264,BMG_DS039589,"Complement Component 4, Partial Deficiency Of",UMLS ID:C1852700,,,,,C1 inhibitor deficiency,MONDO:0007361,,MeSH ID:C565168,,,,OMIM ID:120790 +BMGC_DS11265,BMG_DS039590,Branchiootic Syndrome 2,UMLS ID:C1852718,,,,,branchiootic syndrome 2,MONDO:0007360,,MeSH ID:C565171,,,,OMIM ID:120502 +BMGC_DS11266,BMG_DS039593,COLOBOMA OF MACULA WITH TYPE B BRACHYDACTYLY,UMLS ID:C1852752,,,,,coloboma of macula-brachydactyly type B syndrome,MONDO:0007353,,,,,,OMIM ID:120400 +BMGC_DS11267,BMG_DS039594,Papillorenal syndrome,UMLS ID:C1852759,Renal coloboma syndrome (disorder) | Papillorenal syndrome | Renal coloboma syndrome,SNOMEDCT ID:446449009,,,renal coloboma syndrome,MONDO:0007352,,MeSH ID:C537168,,,,OMIM ID:120330 +BMGC_DS11268,BMG_DS039595,,UMLS ID:C1852767,,,,,coloboma of macula,MONDO:0007351,,,,,,OMIM ID:120300 +BMGC_DS11269,BMG_DS039596,"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",UMLS ID:C1852795,,,,,posterior polymorphous corneal dystrophy 2,MONDO:0012199,,,,,,OMIM ID:609140 +BMGC_DS11270,BMG_DS039598,Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia,UMLS ID:C1852989,,,,,vitreoretinopathy with phalangeal epiphyseal dysplasia,MONDO:0031001,,MeSH ID:C565179,,,,OMIM ID:619248 +BMGC_DS11271,BMG_DS039599,Cornelia de Lange Syndrome 3,UMLS ID:C1853099,,,,,Cornelia de Lange syndrome 3,MONDO:0012555,De Lange Syndrome,MeSH ID:D003635,,,,OMIM ID:610759 +BMGC_DS11272,BMG_DS039600,CEREBROOCULOFACIOSKELETAL SYNDROME 4,UMLS ID:C1853100,,,,,cerebrooculofacioskeletal syndrome 4,MONDO:0012554,,,,,,OMIM ID:610758 | OMIM ID:126380 +BMGC_DS11273,BMG_DS039601,Cerebrooculofacioskeletal Syndrome 2,UMLS ID:C1853102,,,,,cerebrooculofacioskeletal syndrome 2,MONDO:0012553,,MeSH ID:C565185,cerebrooculofacioskeletal syndrome 2,DOID:0080912,,OMIM ID:610756 +BMGC_DS11274,BMG_DS039602,ALOPECIA AREATA 2,UMLS ID:C1853104,,,,,alopecia areata 2,MONDO:0012551,,,,,,OMIM ID:610753 +BMGC_DS11275,BMG_DS039604,"Spinocerebellar Ataxia, Autosomal Recessive 8",UMLS ID:C1853116,,,,,"autosomal recessive ataxia, Beauce type",MONDO:0012549,,MeSH ID:C565188,autosomal recessive spinocerebellar ataxia 8,DOID:0111618,,OMIM ID:610743 +BMGC_DS11276,BMG_DS039605,Severe congenital neutropenia,UMLS ID:C1853118,Congenital neutropenia | Severe infantile genetic neutropenia | Primary neutropenia | Severe congenital neutropenia | Congenital neutropenia (disorder),SNOMEDCT ID:89655007,,,severe congenital neutropenia,MONDO:0018542,,,,,,OMIM ID:MTHU008417 +BMGC_DS11277,BMG_DS039606,Noonan Syndrome 4,UMLS ID:C1853120,,,,,Noonan syndrome 4,MONDO:0012547,,MeSH ID:C548082,Noonan syndrome 4,DOID:0060582,,OMIM ID:610733 +BMGC_DS11278,BMG_DS039607,"NEPHROTIC SYNDROME, TYPE 3",UMLS ID:C1853124,,,,,"nephrotic syndrome, type 3",MONDO:0012546,,,nephrotic syndrome type 3,DOID:0080382,,OMIM ID:610725 | OMIM ID:608414 +BMGC_DS11279,BMG_DS039608,Neutral Lipid Storage Disease with Myopathy,UMLS ID:C1853136,,,,,neutral lipid storage myopathy,MONDO:0012545,,MeSH ID:C565192,,,,OMIM ID:610717 +BMGC_DS11280,BMG_DS039609,BRACHYDACTYLY-SYNDACTYLY SYNDROME,UMLS ID:C1853137,,,,,brachydactyly-syndactyly syndrome,MONDO:0012544,,,,,,OMIM ID:610713 | OMIM ID:142989 +BMGC_DS11281,BMG_DS039610,Optic atrophy 5,UMLS ID:C1853139,,,,,optic atrophy 5,MONDO:0012543,,MeSH ID:C537126,optic atrophy 5,DOID:0111438,,OMIM ID:610708 +BMGC_DS11282,BMG_DS039612,"Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",UMLS ID:C1853144,,,,,"deafness with labyrinthine aplasia, microtia, and microdontia",MONDO:0012541,,MeSH ID:C565195,,,,OMIM ID:610706 +BMGC_DS11283,BMG_DS039613,"Macular Degeneration, Age-Related, 4",UMLS ID:C1853147,,,,,age related macular degeneration 4,MONDO:0012540,,MeSH ID:C565196,,,,OMIM ID:610698 +BMGC_DS11284,BMG_DS039614,JOUBERT SYNDROME 6,UMLS ID:C1853153,,,,,Joubert syndrome 6,MONDO:0012539,,,,,,OMIM ID:610688 | OMIM ID:609884 +BMGC_DS11285,BMG_DS039615,Nemaline Myopathy 7,UMLS ID:C1853154,,,,,nemaline myopathy 7,MONDO:0012538,,MeSH ID:C565198,nemaline myopathy 7,DOID:0110934,,OMIM ID:610687 +BMGC_DS11286,BMG_DS039617,Osteogenesis Imperfecta Type VII,UMLS ID:C1853162,,,,,osteogenesis imperfecta type 7,MONDO:0012536,,MeSH ID:C565200,osteogenesis imperfecta type 7,DOID:0110337,,OMIM ID:610682 +BMGC_DS11287,BMG_DS039620,Recurrent skin infections,UMLS ID:C1853193,,,,,,,,,,,,OMIM ID:MTHU000084 +BMGC_DS11288,BMG_DS039624,,UMLS ID:C1853198,,,,,cold-induced sweating syndrome 2,MONDO:0012467,,,,,,OMIM ID:610313 +BMGC_DS11289,BMG_DS039625,,UMLS ID:C1853202,,,,,"Parkinson disease 13, autosomal dominant, susceptibility to",MONDO:0012466,,,,,,OMIM ID:610297 +BMGC_DS11290,BMG_DS039627,RETINITIS PIGMENTOSA 35,UMLS ID:C1853214,,,,,retinitis pigmentosa 35,MONDO:0012463,,,,,,OMIM ID:610282 | OMIM ID:607292 +BMGC_DS11291,BMG_DS039628,"Pachygyria, frontotemporal",UMLS ID:C1853215,,,,,autosomal recessive frontotemporal pachygyria,MONDO:0012462,,MeSH ID:C538092,,,,OMIM ID:610279 +BMGC_DS11292,BMG_DS039629,"Deafness, Autosomal Recessive 67",UMLS ID:C1853223,,,,,autosomal recessive nonsyndromic hearing loss 67,MONDO:0012460,,MeSH ID:C565207,,,,OMIM ID:610265 +BMGC_DS11293,BMG_DS039633,,UMLS ID:C1853230,,,,,congenital primary aphakia,MONDO:0012456,,,,,,OMIM ID:610256 +BMGC_DS11294,BMG_DS039634,Sclerocornea,UMLS ID:C1853235,,,,,sclerocornea,MONDO:0019629,,MeSH ID:C565209,sclerocornea,DOID:0060252,,OMIM ID:MTHU000241 +BMGC_DS11295,BMG_DS039635,"SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",UMLS ID:C1853247,,,,,hereditary spastic paraplegia 31,MONDO:0012453,,,,,,OMIM ID:609139 | OMIM ID:610250 +BMGC_DS11296,BMG_DS039636,"DEAFNESS, AUTOSOMAL RECESSIVE 65",UMLS ID:C1853248,,,,,autosomal recessive nonsyndromic hearing loss 65,MONDO:0012452,,,,,,OMIM ID:610248 +BMGC_DS11297,BMG_DS039637,SPINOCEREBELLAR ATAXIA 28,UMLS ID:C1853249,,,,,spinocerebellar ataxia type 28,MONDO:0012450,,,spinocerebellar ataxia type 28,DOID:0050977,,OMIM ID:610246 | OMIM ID:604581 +BMGC_DS11298,BMG_DS039638,SPINOCEREBELLAR ATAXIA 23,UMLS ID:C1853250,,,,,spinocerebellar ataxia type 23,MONDO:0012449,,,spinocerebellar ataxia type 23,DOID:0050973,,OMIM ID:131340 | OMIM ID:610245 +BMGC_DS11299,BMG_DS039639,"Spastic Paraplegia 33, Autosomal Dominant",UMLS ID:C1853251,,,,,hereditary spastic paraplegia 33,MONDO:0012448,,MeSH ID:C565214,,,,OMIM ID:610244 +BMGC_DS11300,BMG_DS039642,Seborrhea-Like Dermatitis with Psoriasiform Elements,UMLS ID:C1853258,,,,,seborrhea-like dermatitis with psoriasiform elements,MONDO:0012446,,MeSH ID:C565217,,,,OMIM ID:610227 +BMGC_DS11301,BMG_DS039643,"HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY",UMLS ID:C1853271,,,,,hereditary hypophosphatemic rickets with hypercalciuria,MONDO:0009431,,,hereditary hypophosphatemic rickets with hypercalciuria,DOID:0050947,,OMIM ID:241530 | OMIM ID:609826 +BMGC_DS11302,BMG_DS039644,"Deafness, Autosomal Recessive 28",UMLS ID:C1853276,,,,,autosomal recessive nonsyndromic hearing loss 28,MONDO:0012355,,MeSH ID:C565218,,,,OMIM ID:609823 +BMGC_DS11303,BMG_DS039645,Bleeding Disorder Due To P2RY12 Defect,UMLS ID:C1853278,,,,,platelet-type bleeding disorder 8,MONDO:0012354,,MeSH ID:C565220,,,,OMIM ID:609821 +BMGC_DS11304,BMG_DS039646,"Erythrocytosis, Familial, 3",UMLS ID:C1853286,,,,,"erythrocytosis, familial, 3",MONDO:0012353,,MeSH ID:C565221,,,,OMIM ID:609820 +BMGC_DS11305,BMG_DS039648,Zygodactyly 1,UMLS ID:C1853294,,,,,zygodactyly type 1,MONDO:0012351,,MeSH ID:C565223,zygodactyly 1,DOID:0111820,,OMIM ID:609815 +BMGC_DS11306,BMG_DS039649,"Spondylocostal Dysostosis 3, Autosomal Recessive",UMLS ID:C1853296,,,,,"autosomal recessive spondylocostal dysostosis | spondylocostal dysostosis 3, autosomal recessive",MONDO:0010180;MONDO:0012349,,MeSH ID:C535781,,,,OMIM ID:609813 +BMGC_DS11307,BMG_DS039650,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",UMLS ID:C1853297,,,,,maturity-onset diabetes of the young type 8,MONDO:0012348,,,maturity-onset diabetes of the young type 8,DOID:0111105,,OMIM ID:609812 | OMIM ID:114840 +BMGC_DS11308,BMG_DS039651,"Hamartoma, Precalcaneal Congenital Fibrolipomatous",UMLS ID:C1853298,,,,,"hamartoma, Precalcaneal congenital fibrolipomatous",MONDO:0012347,,MeSH ID:C565226,,,,OMIM ID:609808 +BMGC_DS11309,BMG_DS039652,"Generalized Epilepsy With Febrile Seizures Plus, Type 4",UMLS ID:C1853345,,,,,"generalized epilepsy with febrile seizures plus, type 4",MONDO:0012346,,MeSH ID:C565227,,,,OMIM ID:609800 +BMGC_DS11310,BMG_DS039653,"Peeling skin syndrome, acral type",UMLS ID:C1853354,"Peeling skin syndrome, acral type | Acral peeling skin syndrome | Acral peeling skin syndrome (disorder)",SNOMEDCT ID:709416009,,,acral peeling skin syndrome,MONDO:0012345,,MeSH ID:C536316,peeling skin syndrome 2,DOID:0070521,,OMIM ID:609796 +BMGC_DS11311,BMG_DS039656,,UMLS ID:C1853365,,,,,"aortic aneurysm, familial abdominal, 1",MONDO:0024521,,,,,,OMIM ID:100070 +BMGC_DS11312,BMG_DS039657,,UMLS ID:C1853371,,,,,maturity-onset diabetes of the young type 6,MONDO:0011668,,,,,,OMIM ID:606394 +BMGC_DS11313,BMG_DS039658,,UMLS ID:C1853377,,,,,mega-cisterna magna,MONDO:0019953,,,,,, +BMGC_DS11314,BMG_DS039659,"Interleukin 2 Receptor, Alpha, Deficiency of",UMLS ID:C1853392,,,,,immunodeficiency due to CD25 deficiency,MONDO:0011664,,MeSH ID:C565232,immunodeficiency 41,DOID:0111968,,OMIM ID:606367 +BMGC_DS11315,BMG_DS039660,Primary lateral sclerosis juvenile,UMLS ID:C1853396,,,,,juvenile primary lateral sclerosis,MONDO:0011663,,MeSH ID:C536416,,,,OMIM ID:606353 +BMGC_DS11316,BMG_DS039661,INFLAMMATORY BOWEL DISEASE 5,UMLS ID:C1853438,,,,,inflammatory bowel disease 5,MONDO:0011661,,,,,,OMIM ID:606348 +BMGC_DS11317,BMG_DS039662,"Heterotaxy, Visceral, 3, Autosomal",UMLS ID:C1853444,,,,,"heterotaxy, visceral, 3, autosomal",MONDO:0011659,,MeSH ID:C565237,,,,OMIM ID:606325 +BMGC_DS11318,BMG_DS039663,"PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET",UMLS ID:C1853445,,,,,autosomal recessive early-onset Parkinson disease 7,MONDO:0011658,,,Parkinson's disease 7,DOID:0060370,,OMIM ID:602533 | OMIM ID:606324 +BMGC_DS11319,BMG_DS039664,"Deafness, Autosomal Dominant 24",UMLS ID:C1853451,,,,,autosomal dominant nonsyndromic hearing loss 24,MONDO:0011657,,MeSH ID:C565239,,,,OMIM ID:606282 +BMGC_DS11320,BMG_DS039665,PAGET DISEASE OF BONE 4,UMLS ID:C1853473,,,,,paget disease of bone 4,MONDO:0011656,,,Paget's disease of bone 4,DOID:0081367,,OMIM ID:606263 +BMGC_DS11321,BMG_DS039666,"Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism",UMLS ID:C1853480,,,,,"intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism",MONDO:0011654,,MeSH ID:C565246,,,,OMIM ID:606242 +BMGC_DS11322,BMG_DS039667,22q13.3 Deletion Syndrome,UMLS ID:C1853490,,,,,Phelan-McDermid syndrome,MONDO:0011652,,MeSH ID:C536801,,,,OMIM ID:606232 +BMGC_DS11323,BMG_DS039668,"Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations",UMLS ID:C1853507,,,,,"intellectual disability, short stature, facial anomalies, and joint dislocations",MONDO:0011651,,MeSH ID:C565248,,,,OMIM ID:606220 +BMGC_DS11324,BMG_DS039669,,UMLS ID:C1853508,,,,,"atrioventricular septal defect, susceptibility to, 2",MONDO:0011650,,,,,,OMIM ID:606217 +BMGC_DS11325,BMG_DS039670,"Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome",UMLS ID:C1853509,,,,,,,,MeSH ID:C565249,,,, +BMGC_DS11326,BMG_DS039677,Genitopatellar Syndrome,UMLS ID:C1853566,,,,,genitopatellar syndrome,MONDO:0011640,,MeSH ID:C565255,,,,OMIM ID:606170 +BMGC_DS11327,BMG_DS039680,Neuroferritinopathy,UMLS ID:C1853578,Adult onset basal ganglia disease | Neuroferritinopathy (disorder) | Ferritin related neurodegeneration | Neuroferritinopathy,SNOMEDCT ID:699299001,,,neuroferritinopathy,MONDO:0011638,,MeSH ID:C548080,neurodegeneration with brain iron accumulation 3,DOID:0110737,,OMIM ID:606159 +BMGC_DS11328,BMG_DS039682,Fryns-Aftimos Syndrome,UMLS ID:C1853623,,,,,Baraitser-Winter cerebrofrontofacial syndrome,MONDO:0017579,,MeSH ID:C565258,,,, +BMGC_DS11329,BMG_DS039683,"Anemia, Diamond-Blackfan, 2",UMLS ID:C1853666,,,,,Diamond-Blackfan anemia 2,MONDO:0011636,,MeSH ID:C536130,Diamond-Blackfan anemia 2,DOID:0111885,,OMIM ID:606129 +BMGC_DS11330,BMG_DS039684,"Goiter, Multinodular 3",UMLS ID:C1853686,,,,,"goiter, multinodular 3",MONDO:0011635,,MeSH ID:C565260,,,,OMIM ID:606082 +BMGC_DS11331,BMG_DS039685,Rippling muscle disease,UMLS ID:C1853698,Rippling muscle disease (disorder) | Rippling muscle disease | Rippling muscle syndrome,SNOMEDCT ID:709281006,,,rippling muscle disease,MONDO:0011634,,MeSH ID:C535686,rippling muscle disease 1 | rippling muscle disease 2,DOID:0070308;DOID:0060255,, +BMGC_DS11332,BMG_DS039686,"Hereditary Motor And Sensory Neuropathy, Type IIC",UMLS ID:C1853710,,,,,Charcot-Marie-Tooth disease axonal type 2C,MONDO:0011633,,MeSH ID:C565261,,,,OMIM ID:606071 +BMGC_DS11333,BMG_DS039687,,UMLS ID:C1853723,,,,,distal myopathy with vocal cord weakness,MONDO:0018951,,,,,, +BMGC_DS11334,BMG_DS039688,"HEMOCHROMATOSIS, TYPE 4",UMLS ID:C1853733,,,,,hemochromatosis type 4,MONDO:0011631,,,hemochromatosis type 4,DOID:0111028,,OMIM ID:604653 | OMIM ID:606069 +BMGC_DS11335,BMG_DS039689,"Congenital Disorder Of Glycosylation, Type IIB",UMLS ID:C1853736,,,,,MOGS-congenital disorder of glycosylation,MONDO:0011629,,MeSH ID:C565264,congenital disorder of glycosylation type IIb,DOID:0070254,,OMIM ID:606056 +BMGC_DS11336,BMG_DS039690,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY,UMLS ID:C1853755,,,,,"autism, susceptibility to, 5",MONDO:0011627,,,,,,OMIM ID:604616 | OMIM ID:606053 +BMGC_DS11337,BMG_DS039692,"Deafness, Autosomal Dominant 18",UMLS ID:C1853760,,,,,autosomal dominant nonsyndromic hearing loss 18,MONDO:0011625,,MeSH ID:C565267,,,,OMIM ID:606012 +BMGC_DS11338,BMG_DS039693,,UMLS ID:C1853761,,,,,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2",MONDO:0018996,,,,,,OMIM ID:606002 +BMGC_DS11339,BMG_DS039695,Familial Wilms tumor 2,UMLS ID:C1853800,,,,,,,,MeSH ID:C536853,,,, +BMGC_DS11340,BMG_DS039696,Acropectoral syndrome,UMLS ID:C1853812,Acropectoral syndrome (disorder) | Acropectoral syndrome | Acro-pectoral syndrome | Syndactyly with preaxial polydactyly and sternal deformity syndrome,SNOMEDCT ID:720412009,,,acropectoral syndrome,MONDO:0011621,,MeSH ID:C535664,,,,OMIM ID:605967 +BMGC_DS11341,BMG_DS039701,Holoprosencephaly 6,UMLS ID:C1853830,,,,,holoprosencephaly 6,MONDO:0011616,,MeSH ID:C565274,holoprosencephaly 6,DOID:0110874,,OMIM ID:605934 +BMGC_DS11342,BMG_DS039703,"Parkinson Disease 6, Autosomal Recessive Early-Onset",UMLS ID:C1853833,,,,,autosomal recessive early-onset Parkinson disease 6,MONDO:0011613,,MeSH ID:C565276,,,,OMIM ID:605909 +BMGC_DS11343,BMG_DS039704,"Cardiomyopathy, Dilated, with Left Ventricular Noncompaction",UMLS ID:C1853863,,,,,,,,MeSH ID:C565277,,,, +BMGC_DS11344,BMG_DS039705,Dimethylglycine Dehydrogenase Deficiency,UMLS ID:C1853892,,,,,dimethylglycine dehydrogenase deficiency,MONDO:0011610,,MeSH ID:C565278,,,,OMIM ID:605850 +BMGC_DS11345,BMG_DS039710,"Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant",UMLS ID:C1853919,,,,,generalized basaloid follicular hamartoma syndrome,MONDO:0011605,,MeSH ID:C565284,,,,OMIM ID:605827 +BMGC_DS11346,BMG_DS039711,"Spondyloocular Syndrome, Autosomal Recessive",UMLS ID:C1853925,,,,,,,,MeSH ID:C565285,,,, +BMGC_DS11347,BMG_DS039712,NONAKA MYOPATHY,UMLS ID:C1853926,,,,,GNE myopathy,MONDO:0011603,,,GNE myopathy,DOID:0080718,,OMIM ID:603824 | OMIM ID:605820 +BMGC_DS11348,BMG_DS039713,"DEAFNESS, AUTOSOMAL RECESSIVE 27",UMLS ID:C1853941,,,,,autosomal recessive nonsyndromic hearing loss 27,MONDO:0011602,,,,,,OMIM ID:605818 +BMGC_DS11349,BMG_DS039714,"CITRULLINEMIA, TYPE II, NEONATAL-ONSET",UMLS ID:C1853942,,,,,neonatal intrahepatic cholestasis due to citrin deficiency,MONDO:0011601,,,neonatal-onset type II citrullinemia,DOID:0070341,,OMIM ID:605814 | OMIM ID:603859 +BMGC_DS11350,BMG_DS039715,Birdshot Chorioretinopathy,UMLS ID:C1853959,,,,,birdshot chorioretinopathy,MONDO:0011599,Birdshot Chorioretinopathy,MeSH ID:D000080365,birdshot chorioretinopathy,DOID:0111079,,OMIM ID:605808 +BMGC_DS11351,BMG_DS039716,"DERMATITIS, ATOPIC, 4",UMLS ID:C1853963,,,,,"dermatitis, atopic, 4",MONDO:0011598,,,atopic dermatitis 4,DOID:0110100,,OMIM ID:605805 +BMGC_DS11352,BMG_DS039718,"Dermatitis, Atopic, 2",UMLS ID:C1853965,,,,,"dermatitis, atopic, 2",MONDO:0011596,,MeSH ID:C565293,,,,OMIM ID:605803 +BMGC_DS11353,BMG_DS039720,"SEIZURES, BENIGN FAMILIAL INFANTILE, 2",UMLS ID:C1853995,,,,,"seizures, benign familial infantile, 2",MONDO:0011593,,,benign familial infantile seizures 2,DOID:0081115,,OMIM ID:605751 | OMIM ID:614386 +BMGC_DS11354,BMG_DS039721,EXUDATIVE VITREORETINOPATHY 3,UMLS ID:C1854002,,,,,exudative vitreoretinopathy 3,MONDO:0011592,,,,,,OMIM ID:605750 +BMGC_DS11355,BMG_DS039725,"Cataract, Central Saccular, With Sutural Opacities",UMLS ID:C1854021,,,,,cataract 25,MONDO:0011587,,MeSH ID:C565301,,,,OMIM ID:605728 +BMGC_DS11356,BMG_DS039726,OTOSCLEROSIS 2,UMLS ID:C1854022,,,,,otosclerosis 2,MONDO:0011586,,,otosclerosis 2,DOID:0060921,,OMIM ID:605727 +BMGC_DS11357,BMG_DS039727,"Spinal muscular atrophy, Jerash type",UMLS ID:C1854023,,,,,autosomal recessive distal spinal muscular atrophy 2,MONDO:0011585,,MeSH ID:C535715,autosomal recessive distal hereditary motor neuronopathy 2,DOID:0111065,,OMIM ID:605726 +BMGC_DS11358,BMG_DS039728,"SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",UMLS ID:C1854058,,,,,"adult-onset proximal spinal muscular atrophy, autosomal dominant",MONDO:0008453,,,autosomal dominant adult-onset proximal spinal muscular atrophy,DOID:0111194,,OMIM ID:182980 | OMIM ID:605704 +BMGC_DS11359,BMG_DS039730,Cardiomyopathy dilated with woolly hair and keratoderma,UMLS ID:C1854063,,,,,arrhythmogenic cardiomyopathy with wooly hair and keratoderma,MONDO:0011581,,MeSH ID:C535581,Carvajal syndrome,DOID:0090128,,OMIM ID:605676 +BMGC_DS11360,BMG_DS039732,Late-Onset Retinal Degeneration,UMLS ID:C1854065,,,,,late-onset retinal degeneration,MONDO:0011579,,MeSH ID:C565309,late-onset retinal degeneration,DOID:0060869,,OMIM ID:605670 +BMGC_DS11361,BMG_DS039734,,UMLS ID:C1854106,,,,,"myopathy, proximal, and ophthalmoplegia",MONDO:0011577,,,,,,OMIM ID:605637 +BMGC_DS11362,BMG_DS039735,"Hyperaldosteronism, Familial, Type II",UMLS ID:C1854107,,,,,familial hyperaldosteronism type II,MONDO:0011576,,MeSH ID:C565312,,,,OMIM ID:605635 +BMGC_DS11363,BMG_DS039736,Cerebrooculonasal Syndrome,UMLS ID:C1854108,,,,,cerebrooculonasal syndrome,MONDO:0011575,,MeSH ID:C565313,,,,OMIM ID:605627 +BMGC_DS11364,BMG_DS039738,,UMLS ID:C1854124,,,,,"psoriasis 7, susceptibility to",MONDO:0011573,,,,,,OMIM ID:605606 +BMGC_DS11365,BMG_DS039740,"Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",UMLS ID:C1854146,,,,,"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1",MONDO:0011571,,MeSH ID:C565316,,,,OMIM ID:605594 +BMGC_DS11366,BMG_DS039741,"Charcot-Marie-Tooth disease, Type 2B2",UMLS ID:C1854150,,,,,Charcot-Marie-Tooth disease type 2B2,MONDO:0011570,,MeSH ID:C537991,Charcot-Marie-Tooth disease type 2B2,DOID:0110179,,OMIM ID:605589 +BMGC_DS11367,BMG_DS039742,"Charcot-Marie-Tooth disease, Type 2B1",UMLS ID:C1854154,,,,,Charcot-Marie-Tooth disease type 2B1,MONDO:0011569,,MeSH ID:C537990,Charcot-Marie-Tooth disease type 2B1,DOID:0110156,,OMIM ID:605588 +BMGC_DS11368,BMG_DS039743,"Deafness, Autosomal Dominant 25",UMLS ID:C1854158,,,,,autosomal dominant nonsyndromic hearing loss 25,MONDO:0011568,,MeSH ID:C565319,,,,OMIM ID:605583 +BMGC_DS11369,BMG_DS039744,"Cardiomyopathy, Dilated, 1K",UMLS ID:C1854159,,,,,dilated cardiomyopathy 1K,MONDO:0011567,,MeSH ID:C565320,,,,OMIM ID:605582 +BMGC_DS11370,BMG_DS039745,,UMLS ID:C1854170,,,,,abdominal obesity-metabolic syndrome quantitative trait locus 2,MONDO:0011566,,,,,,OMIM ID:605572 +BMGC_DS11371,BMG_DS039746,Cone-Rod Dystrophy 8,UMLS ID:C1854180,,,,,cone-rod dystrophy 8,MONDO:0011564,,MeSH ID:C565322,cone-rod dystrophy 8,DOID:0111014,,OMIM ID:605549 +BMGC_DS11372,BMG_DS039748,"Parkinson Disease 4, Autosomal Dominant Lewy Body",UMLS ID:C1854182,,,,,autosomal dominant Parkinson disease 4,MONDO:0011562,,MeSH ID:C565324,,,,OMIM ID:605543 +BMGC_DS11373,BMG_DS039749,"ALZHEIMER DISEASE 6, LATE-ONSET",UMLS ID:C1854187,,,,,Alzheimer disease 6,MONDO:0011561,,,,,,OMIM ID:605526 +BMGC_DS11374,BMG_DS039752,Leber Congenital Amaurosis 6,UMLS ID:C1854260,,,,,Leber congenital amaurosis 6,MONDO:0013446,,MeSH ID:C565327,Leber congenital amaurosis 6,DOID:0110329,,OMIM ID:613826 +BMGC_DS11375,BMG_DS039753,Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia,UMLS ID:C1854273,,,,,radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,MONDO:0011555,,MeSH ID:C565328,,,, +BMGC_DS11376,BMG_DS039754,"DEAFNESS, AUTOSOMAL RECESSIVE 26",UMLS ID:C1854275,,,,,autosomal recessive nonsyndromic hearing loss 26,MONDO:0011553,,,,,,OMIM ID:604439 | OMIM ID:605428 +BMGC_DS11377,BMG_DS039756,Hypotrichosis simplex,UMLS ID:C1854310,Hereditary hypotrichosis simplex (disorder) | Hereditary hypotrichosis simplex | Hypotrichosis simplex,SNOMEDCT ID:723362004,,,hypotrichosis simplex,MONDO:0018914,,MeSH ID:C537160,,,, +BMGC_DS11378,BMG_DS039757,"Cataract, posterior polar, 3",UMLS ID:C1854311,,,,,cataract 31 multiple types,MONDO:0011547,,MeSH ID:C535343,,,,OMIM ID:605387 +BMGC_DS11379,BMG_DS039758,"Epilepsy, Nocturnal Frontal Lobe, Type 3",UMLS ID:C1854335,,,,,autosomal dominant nocturnal frontal lobe epilepsy 3,MONDO:0011545,,MeSH ID:C565334,,,,OMIM ID:605375 +BMGC_DS11380,BMG_DS039759,PARAGANGLIOMAS 3,UMLS ID:C1854336,,,,,paragangliomas 3,MONDO:0011544,,,,,,OMIM ID:605373 +BMGC_DS11381,BMG_DS039763,"Cardiomyopathy, Dilated, 1J",UMLS ID:C1854368,,,,,dilated cardiomyopathy 1J,MONDO:0011541,,MeSH ID:C565337,,,,OMIM ID:605362 +BMGC_DS11382,BMG_DS039764,Spinocerebellar ataxia 14,UMLS ID:C1854369,,,,,spinocerebellar ataxia type 14,MONDO:0011540,,MeSH ID:C537196,,,,OMIM ID:605361 +BMGC_DS11383,BMG_DS039765,,UMLS ID:C1854380,,,,,nemaline myopathy 5,MONDO:0011539,,,,,,OMIM ID:605355 +BMGC_DS11384,BMG_DS039766,Frontoocular Syndrome,UMLS ID:C1854405,,,,,frontoocular syndrome,MONDO:0011538,,MeSH ID:C565340,,,,OMIM ID:605321 +BMGC_DS11385,BMG_DS039768,MACROCEPHALY/AUTISM SYNDROME,UMLS ID:C1854416,,,,,macrocephaly-autism syndrome,MONDO:0011537,,,,,,OMIM ID:601728 | OMIM ID:605309 +BMGC_DS11386,BMG_DS039769,Optic Atrophy 4,UMLS ID:C1854430,,,,,optic atrophy 4,MONDO:0011536,,MeSH ID:C565343,optic atrophy 4,DOID:0111440,,OMIM ID:605293 +BMGC_DS11387,BMG_DS039770,SPLIT-HAND/FOOT MALFORMATION 4,UMLS ID:C1854442,,,,,split hand-foot malformation 4,MONDO:0011535,,,,,,OMIM ID:603273 | OMIM ID:605289 +BMGC_DS11388,BMG_DS039771,"Neuropathy, hereditary motor and sensory, Russe type",UMLS ID:C1854449,,,,,Charcot-Marie-Tooth disease type 4G,MONDO:0011534,,MeSH ID:C535813,,,,OMIM ID:605285 +BMGC_DS11389,BMG_DS039772,Tuberous Sclerosis 1,UMLS ID:C1854465,,,,,tuberous sclerosis 1,MONDO:0008612,,MeSH ID:C565346,tuberous sclerosis 1,DOID:0080324,,OMIM ID:191100 +BMGC_DS11390,BMG_DS039773,Temtamy preaxial brachydactyly syndrome,UMLS ID:C1854466,Temtamy preaxial brachydactyly syndrome | Temtamy preaxial brachydactyly syndrome (disorder),SNOMEDCT ID:777998000,,,temtamy preaxial brachydactyly syndrome,MONDO:0011533,,MeSH ID:C536958,temtamy preaxial brachydactyly syndrome,DOID:0050814,,OMIM ID:605282 +BMGC_DS11391,BMG_DS039774,"Spastic paraplegia 13, autosomal dominant",UMLS ID:C1854467,,,,,hereditary spastic paraplegia 13,MONDO:0011532,,MeSH ID:C537485,,,,OMIM ID:605280 +BMGC_DS11392,BMG_DS039775,Noonan Syndrome 2,UMLS ID:C1854469,,,,,Noonan syndrome 2,MONDO:0011531,,MeSH ID:C548081,Noonan syndrome 2,DOID:0060580,,OMIM ID:605275 +BMGC_DS11393,BMG_DS039776,"Mesomelic Dysplasia, Savarirayan Type",UMLS ID:C1854470,,,,,"mesomelic dysplasia, Savarirayan type",MONDO:0011530,,MeSH ID:C565349,,,,OMIM ID:605274 +BMGC_DS11394,BMG_DS039777,Spinocerebellar ataxia 13,UMLS ID:C1854488,,,,,spinocerebellar ataxia type 13,MONDO:0011529,,MeSH ID:C537195,,,,OMIM ID:605259 +BMGC_DS11395,BMG_DS039778,"Carney Complex, Type 2",UMLS ID:C1854540,,,,,Carney complex type 2,MONDO:0011525,Carney Complex,MeSH ID:D056733,Carney complex,DOID:0050471,,OMIM ID:605244 +BMGC_DS11396,BMG_DS039779,"Spastic paraplegia 14, autosomal recessive",UMLS ID:C1854568,,,,,hereditary spastic paraplegia 14,MONDO:0011522,,MeSH ID:C537486,,,,OMIM ID:605229 +BMGC_DS11397,BMG_DS039781,,UMLS ID:C1854577,,,,,"systemic lupus erythematosus, susceptibility to, 2",MONDO:0011520,,,,,,OMIM ID:605218 +BMGC_DS11398,BMG_DS039782,"DEAFNESS, AUTOSOMAL DOMINANT 23",UMLS ID:C1854594,,,,,autosomal dominant nonsyndromic hearing loss 23,MONDO:0011519,,,,,,OMIM ID:605192 | OMIM ID:601205 +BMGC_DS11399,BMG_DS039783,Wiedemann Steiner syndrome,UMLS ID:C1854630,"Wiedemann Steiner syndrome | Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome | Wiedemann Steiner syndrome (disorder)",SNOMEDCT ID:763618001,,,Wiedemann-Steiner syndrome,MONDO:0011518,,,,,,OMIM ID:605130 +BMGC_DS11400,BMG_DS039784,"Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy",UMLS ID:C1854631,,,,,pseudohyperaldosteronism type 2,MONDO:0011517,,MeSH ID:C565359,,,,OMIM ID:605115 +BMGC_DS11401,BMG_DS039786,"Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy",UMLS ID:C1854646,,,,,"muscular dystrophy, adult-onset, with leukoencephalopathy",MONDO:0009674,,MeSH ID:C565361,,,,OMIM ID:253590 +BMGC_DS11402,BMG_DS039788,LETHAL CONGENITAL CONTRACTURE SYNDROME 1,UMLS ID:C1854664,,,,,lethal congenital contracture syndrome 1,MONDO:0009670,,,lethal congenital contracture syndrome 1,DOID:0060559,,OMIM ID:253310 | OMIM ID:603371 +BMGC_DS11403,BMG_DS039789,"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE",UMLS ID:C1854678,,,,,lethal multiple pterygium syndrome,MONDO:0009668,,,,,,OMIM ID:100690 | OMIM ID:253290 | OMIM ID:100720 | OMIM ID:100730 +BMGC_DS11404,BMG_DS039795,Mucolipidosis III Gamma,UMLS ID:C1854896,,,,,GNPTG-mucolipidosis,MONDO:0009652,,MeSH ID:C565367,mucolipidosis III gamma,DOID:0080678,,OMIM ID:252605 +BMGC_DS11405,BMG_DS039798,Monosomy 7 of Bone Marrow,UMLS ID:C1854978,,,,,monosomy 7 myelodysplasia and leukemia syndrome 1,MONDO:0009646,,MeSH ID:C565370,,,,OMIM ID:252270 +BMGC_DS11406,BMG_DS039799,Monocyte Chemotactic Disorder,UMLS ID:C1854982,,,,,chronic mucocutaneous candidiasis due to monocyte chemotactic disorder,MONDO:0009645,,MeSH ID:C565371,,,,OMIM ID:252250 +BMGC_DS11407,BMG_DS039800,"Molybdenum Cofactor Deficiency, Complementation Group A",UMLS ID:C1854988,,,,,sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,MONDO:0009643,,MeSH ID:C565372,molybdenum cofactor deficiency type A,DOID:0111164,,OMIM ID:252150 +BMGC_DS11408,BMG_DS039801,"Molybdenum Cofactor Deficiency, Complementation Group B",UMLS ID:C1854989,,,,,sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,MONDO:0009644,,MeSH ID:C565373,molybdenum cofactor deficiency type B,DOID:0111163,,OMIM ID:252160 +BMGC_DS11409,BMG_DS039802,"Molybdenum Cofactor Deficiency, Complementation Group C",UMLS ID:C1854990,,,,,sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,MONDO:0014212,,MeSH ID:C565374,molybdenum cofactor deficiency type C,DOID:0111166,,OMIM ID:615501 +BMGC_DS11410,BMG_DS039803,Mitochondrial Complex II Deficiency,UMLS ID:C1855008,,,,,,,,MeSH ID:C565375,mitochondrial complex II deficiency,DOID:0060537,, +BMGC_DS11411,BMG_DS039805,Mitochondrial myopathy with lactic acidosis,UMLS ID:C1855033,,,,,mitochondrial myopathy-lactic acidosis-deafness syndrome,MONDO:0016825,,MeSH ID:C537476,,,,OMIM ID:251950 +BMGC_DS11412,BMG_DS039806,Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport,UMLS ID:C1855034,,,,,mitochondrial myopathy with a defect in mitochondrial-protein transport,MONDO:0009638,,MeSH ID:C565376,,,,OMIM ID:251945 +BMGC_DS11413,BMG_DS039808,"MICROPHTHALMIA, ISOLATED 1",UMLS ID:C1855052,,,,,isolated microphthalmia 1,MONDO:0009631,,,,,,OMIM ID:251600 +BMGC_DS11414,BMG_DS039809,"Microphthalmia, Isolated, with Coloboma 4",UMLS ID:C1855053,,,,,"microphthalmia, isolated, with coloboma 4",MONDO:0009630,,MeSH ID:C565378,,,,OMIM ID:251505 +BMGC_DS11415,BMG_DS039811,ATAXIA-TELANGIECTASIA VARIANT V2,UMLS ID:C1855057,,,,,,,,,,,,OMIM ID:251260 +BMGC_DS11416,BMG_DS039813,Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia,UMLS ID:C1855078,,,,,Say-Barber-Miller syndrome,MONDO:0009620,,MeSH ID:C565381,,,,OMIM ID:251240 +BMGC_DS11417,BMG_DS039814,Microcephaly-Micromelia Syndrome,UMLS ID:C1855079,,,,,microcephaly-micromelia syndrome,MONDO:0009619,,MeSH ID:C565382,,,,OMIM ID:251230 +BMGC_DS11418,BMG_DS039815,Winship Viljoen Leary syndrome,UMLS ID:C1855080,Winship Viljoen Leary syndrome | Microcephalus cardiomyopathy syndrome (disorder) | Microcephalus cardiomyopathy syndrome | Microcephaly cardiomyopathy syndrome,SNOMEDCT ID:719380003,,,microcephaly-cardiomyopathy syndrome,MONDO:0009618,,MeSH ID:C536711,,,,OMIM ID:251220 +BMGC_DS11419,BMG_DS039816,,UMLS ID:C1855081,,,,,"microcephaly 1, primary, autosomal recessive",MONDO:0009617,,,,,,OMIM ID:251200 +BMGC_DS11420,BMG_DS039818,Methylmalonyl-CoA Epimerase Deficiency,UMLS ID:C1855100,,,,,methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,MONDO:0009615,,MeSH ID:C565386,,,,OMIM ID:251120 +BMGC_DS11421,BMG_DS039820,Methylmalonic aciduria cblB type,UMLS ID:C1855102,,,,,"methylmalonic aciduria, cblB type",MONDO:0009614,,MeSH ID:C537361,,,,OMIM ID:251110 +BMGC_DS11422,BMG_DS039821,Methylmalonic aciduria cblA type,UMLS ID:C1855109,,,,,"methylmalonic aciduria, cblA type",MONDO:0009613,,MeSH ID:C537360,,,,OMIM ID:251100 +BMGC_DS11423,BMG_DS039822,Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency,UMLS ID:C1855114,,,,,methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,MONDO:0009612,,MeSH ID:C565390,methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,DOID:0060740,,OMIM ID:251000 +BMGC_DS11424,BMG_DS039823,"Methylmalonic Aciduria, mut(0) Type",UMLS ID:C1855115,,,,,,,,MeSH ID:C565390,methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,DOID:0060740,, +BMGC_DS11425,BMG_DS039824,"Methylmalonic Aciduria, mut(-) Type",UMLS ID:C1855116,,,,,,,,MeSH ID:C565390,methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,DOID:0060740,, +BMGC_DS11426,BMG_DS039825,Methylmalonic aciduria,UMLS ID:C1855119,,,,,,,,,,,,OMIM ID:MTHU037634 +BMGC_DS11427,BMG_DS039826,3-Methylglutaconic Aciduria Type IV,UMLS ID:C1855126,,,,,3-methylglutaconic aciduria type 4,MONDO:0009611,,MeSH ID:C565393,3-methylglutaconic aciduria type 4,DOID:0110006,,OMIM ID:250951 +BMGC_DS11428,BMG_DS039827,"Methylcobalamin Deficiency, CblG Type",UMLS ID:C1855128,,,,,methylcobalamin deficiency type cblG,MONDO:0009609,,MeSH ID:C565394,,,,OMIM ID:250940 +BMGC_DS11429,BMG_DS039828,Roy Maroteaux Kremp syndrome,UMLS ID:C1855164,,,,,"metaphyseal modeling abnormality, skin lesions, and spastic paraplegia",MONDO:0009602,,MeSH ID:C535875,,,,OMIM ID:250500 +BMGC_DS11430,BMG_DS039830,"Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness",UMLS ID:C1855175,,,,,metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,MONDO:0009599,,MeSH ID:C565396,,,,OMIM ID:250420 +BMGC_DS11431,BMG_DS039831,,UMLS ID:C1855179,,,,,early-onset anterior polar cataract,MONDO:0020373,,,,,, +BMGC_DS11432,BMG_DS039832,Metaphyseal Chondrodysplasia with Retinitis Pigmentosa,UMLS ID:C1855188,,,,,metaphyseal chondrodysplasia-retinitis pigmentosa syndrome,MONDO:0009598,,MeSH ID:C565398,,,,OMIM ID:250410 +BMGC_DS11433,BMG_DS039833,"Metaphyseal Chondrodysplasia, Pena Type",UMLS ID:C1855195,,,,,"metaphyseal chondrodysplasia, Pena type",MONDO:0009596,,MeSH ID:C565399,,,,OMIM ID:250300 +BMGC_DS11434,BMG_DS039835,"Spondylometaphyseal dysplasia, Sedaghatian type",UMLS ID:C1855229,,,,,"spondylometaphyseal dysplasia, Sedaghatian type",MONDO:0009593,,MeSH ID:C535798,spondylometaphyseal dysplasia Sedaghatian type,DOID:0112298,,OMIM ID:250220 +BMGC_DS11435,BMG_DS039837,Pseudoarylsulfatase A Deficiency,UMLS ID:C1855255,,,,,,,,MeSH ID:C565403,,,, +BMGC_DS11436,BMG_DS039838,Mesomelic Limb Shortening and Bowing,UMLS ID:C1855273,,,,,mesomelic dwarfism-cleft palate-camptodactyly syndrome,MONDO:0009589,,MeSH ID:C565404,,,,OMIM ID:249710 +BMGC_DS11437,BMG_DS039841,,UMLS ID:C1855304,,,,,"intellectual disability, autosomal recessive 1",MONDO:0009580,,,,,,OMIM ID:249500 +BMGC_DS11438,BMG_DS039842,Ter Haar syndrome,UMLS ID:C1855305,Frank-Ter Haar syndrome (disorder) | Frank-Ter Haar syndrome | Ter Haar syndrome,SNOMEDCT ID:720958002,,,Frank-Ter Haar syndrome,MONDO:0009579,,MeSH ID:C537274,Frank-Ter Haar syndrome,DOID:0111789,,OMIM ID:211170 | OMIM ID:249420 +BMGC_DS11439,BMG_DS039843,Megalencephaly with Dysmyelination,UMLS ID:C1855309,,,,,megalencephaly with dysmyelination,MONDO:0009574,,MeSH ID:C565408,,,,OMIM ID:249240 +BMGC_DS11440,BMG_DS039844,Megaepiphyseal dwarfism,UMLS ID:C1855310,,,,,megaepiphyseal dwarfism,MONDO:0009573,,MeSH ID:C536140,,,,OMIM ID:249230 +BMGC_DS11441,BMG_DS039846,MAST SYNDROME,UMLS ID:C1855346,,,,,mast syndrome,MONDO:0009568,,,,,,OMIM ID:248900 | OMIM ID:608181 +BMGC_DS11442,BMG_DS039850,"Maple Syrup Urine Disease, Type IA",UMLS ID:C1855369,,,,,maple syrup urine disease type 1A,MONDO:0023691,,MeSH ID:C535710,,,,OMIM ID:248600 +BMGC_DS11443,BMG_DS039851,"MAPLE SYRUP URINE DISEASE, TYPE II",UMLS ID:C1855371,,,,,maple syrup urine disease type 2,MONDO:0023693,,,,,,OMIM ID:248610 | OMIM ID:620699 +BMGC_DS11444,BMG_DS039855,Marles Greenberg Persaud syndrome,UMLS ID:C1855425,,,,,oculotrichoanal syndrome,MONDO:0009560,,MeSH ID:C536022,,,,OMIM ID:248450 +BMGC_DS11445,BMG_DS039857,"Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",UMLS ID:C1855433,,,,,Treacher Collins syndrome 3,MONDO:0009558,,MeSH ID:C535707,,,,OMIM ID:248390 +BMGC_DS11446,BMG_DS039859,,UMLS ID:C1855464,,,,,"magnesium, elevated red cell",MONDO:0009551,,,,,,OMIM ID:248260 +BMGC_DS11447,BMG_DS039860,Stargardt Disease 1,UMLS ID:C1855465,,,,,severe early-childhood-onset retinal dystrophy,MONDO:0009549,Stargardt Disease,MeSH ID:D000080362,Stargardt disease,DOID:0050817,,OMIM ID:248200 +BMGC_DS11448,BMG_DS039861,"Hypomagnesemia 5, Renal, with Ocular Involvement",UMLS ID:C1855466,,,,,,,,MeSH ID:C565423,,,, +BMGC_DS11449,BMG_DS039864,"Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis",UMLS ID:C1855470,,,,,"lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis",MONDO:0009541,,MeSH ID:C565427,,,,OMIM ID:247800 +BMGC_DS11450,BMG_DS039865,Lymphokine Deficiency,UMLS ID:C1855471,,,,,chronic mucocutaneous candidiasis due to lymphokine deficiency,MONDO:0009540,,MeSH ID:C565428,,,,OMIM ID:247650 +BMGC_DS11451,BMG_DS039866,,UMLS ID:C1855472,,,,,"lymphoblastic leukemia, acute, with lymphomatous features",MONDO:0009539,,,,,,OMIM ID:247640 +BMGC_DS11452,BMG_DS039868,"Lymphoblastic Transformation, Intrinsic Defect in",UMLS ID:C1855474,,,,,chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation,MONDO:0009536,,MeSH ID:C565431,,,,OMIM ID:247450 +BMGC_DS11453,BMG_DS039870,,UMLS ID:C1855476,,,,,chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation,MONDO:0009534,,,,,,OMIM ID:247430 +BMGC_DS11454,BMG_DS039871,Dahlberg Borer Newcomer syndrome,UMLS ID:C1855477,Lymphedema hypoparathyroidism syndrome (disorder) | Lymphedema hypoparathyroidism syndrome | Lymphoedema hypoparathyroidism syndrome | Dahlberg Borer Newcomer syndrome | Dahlberg syndrome,SNOMEDCT ID:721083007,,,Dahlberg-Borer-Newcomer syndrome,MONDO:0009533,,MeSH ID:C535769,,,,OMIM ID:247410 +BMGC_DS11455,BMG_DS039872,Lipase deficiency combined,UMLS ID:C1855498,,,,,"lipase deficiency, combined",MONDO:0009527,,MeSH ID:C535904,,,,OMIM ID:246650 +BMGC_DS11456,BMG_DS039873,"Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome",UMLS ID:C1855499,,,,,"fibular aplasia, tibial campomelia, and oligosyndactyly syndrome",MONDO:0009526,,MeSH ID:C565436,,,,OMIM ID:246570 +BMGC_DS11457,BMG_DS039874,"Limb Defects, Distal Transverse, with Mental Retardation and Spasticity",UMLS ID:C1855501,,,,,intellectual disability-spasticity-ectrodactyly syndrome,MONDO:0009524,,MeSH ID:C565438,,,,OMIM ID:246555 +BMGC_DS11458,BMG_DS039876,"Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis",UMLS ID:C1855504,,,,,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,MONDO:0009522,,MeSH ID:C565440,,,,OMIM ID:246500 +BMGC_DS11459,BMG_DS039877,,UMLS ID:C1855505,,,,,"leukemia, acute myelocytic, with polyposis coli and colon cancer",MONDO:0009521,,,,,,OMIM ID:246470 +BMGC_DS11460,BMG_DS039878,"Leg, Absence Deformity of, with Congenital Cataract",UMLS ID:C1855523,,,,,absence deformity of leg-cataract syndrome,MONDO:0009516,,MeSH ID:C565442,,,,OMIM ID:246000 +BMGC_DS11461,BMG_DS039879,"Larsen like syndrome, lethal type",UMLS ID:C1855535,,,,,lethal Larsen-like syndrome,MONDO:0009512,,MeSH ID:C537872,,,,OMIM ID:245650 +BMGC_DS11462,BMG_DS039880,Laron syndrome type 2,UMLS ID:C1855548,,,,,,,,MeSH ID:C537871,,,, +BMGC_DS11463,BMG_DS039881,Lambotte syndrome,UMLS ID:C1855550,,,,,Lambotte syndrome,MONDO:0009508,,MeSH ID:C537549,,,,OMIM ID:245552 +BMGC_DS11464,BMG_DS039882,Lambert syndrome,UMLS ID:C1855551,"Lambert syndrome | Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Branchial dysplasia, intellectual disability, inguinal hernia syndrome",SNOMEDCT ID:732961003,,,Lambert syndrome,MONDO:0009507,,MeSH ID:C538396,,,,OMIM ID:245550 +BMGC_DS11465,BMG_DS039883,Lactic Aciduria due to D-Lactic Acid,UMLS ID:C1855552,,,,,,,,MeSH ID:C565446,,,, +BMGC_DS11466,BMG_DS039884,Pyruvate Dehydrogenase E3-Binding Protein Deficiency,UMLS ID:C1855553,,,,,pyruvate dehydrogenase E3-binding protein deficiency,MONDO:0009503,,MeSH ID:C565447,,,,OMIM ID:245349 +BMGC_DS11467,BMG_DS039885,Pyruvate Dehydrogenase E2 Deficiency,UMLS ID:C1855565,,,,,pyruvate dehydrogenase E2 deficiency,MONDO:0009502,,MeSH ID:C565448,,,,OMIM ID:245348 +BMGC_DS11468,BMG_DS039886,Erythrocyte Lactate Transporter Defect,UMLS ID:C1855577,,,,,metabolic myopathy due to lactate transporter defect,MONDO:0009501,,MeSH ID:C565449,,,,OMIM ID:245340 +BMGC_DS11469,BMG_DS039887,"KURU, SUSCEPTIBILITY TO",UMLS ID:C1855588,,,,,"kuru, susceptibility to",MONDO:0009500,,,,,,OMIM ID:245300 +BMGC_DS11470,BMG_DS039890,Keutel syndrome,UMLS ID:C1855607,"Keutel syndrome (disorder) | Keutel syndrome | Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome",SNOMEDCT ID:724208006,,,Keutel syndrome,MONDO:0009495,,MeSH ID:C536167,,,,OMIM ID:245150 +BMGC_DS11471,BMG_DS039892,HAIM-MUNK SYNDROME,UMLS ID:C1855627,,,,,Haim-Munk syndrome,MONDO:0009491,,,,,,OMIM ID:245010 | OMIM ID:602365 +BMGC_DS11472,BMG_DS039893,"Keratoderma, Palmoplantar, Norrbotten Recessive Type",UMLS ID:C1855644,,,,,,,,MeSH ID:C565454,mal de Meleda,DOID:0060862,, +BMGC_DS11473,BMG_DS039894,Keratoconus posticus circumscriptus,UMLS ID:C1855645,,,,,keratoconus posticus circumscriptus,MONDO:0009488,,MeSH ID:C536151,,,,OMIM ID:244600 +BMGC_DS11474,BMG_DS039897,"KENNY-CAFFEY SYNDROME, TYPE 1",UMLS ID:C1855648,,,,,autosomal recessive Kenny-Caffey syndrome,MONDO:0009486,,,Kenny-Caffey syndrome type 1,DOID:0080722,,OMIM ID:604934 | OMIM ID:244460 +BMGC_DS11475,BMG_DS039898,Kaufman oculocerebrofacial syndrome,UMLS ID:C1855663,Oculocerebrofacial syndrome Kaufman type (disorder) | Oculocerebrofacial syndrome Kaufman type | Kaufman oculocerebrofacial syndrome,SNOMEDCT ID:722056009,,,"oculocerebrofacial syndrome, Kaufman type",MONDO:0009485,,MeSH ID:C537013,Kaufman oculocerebrofacial syndrome,DOID:0111456,,OMIM ID:244450 +BMGC_DS11476,BMG_DS039899,Arima syndrome,UMLS ID:C1855675,Joubert syndrome with oculorenal defect (disorder) | Joubert syndrome with oculorenal defect | Arima syndrome | Cerebello-oculo-renal syndrome,SNOMEDCT ID:721862000,,,Joubert syndrome with oculorenal defect,MONDO:0009480,,MeSH ID:C537430,,,,OMIM ID:243910 +BMGC_DS11477,BMG_DS039900,"Nephronophthisis, familial juvenile",UMLS ID:C1855681,,,,,nephronophthisis 1,MONDO:0009728,,MeSH ID:C537699,,,,OMIM ID:256100 +BMGC_DS11478,BMG_DS039901,Jejunal Atresia with Microcephaly and Ocular Anomalies,UMLS ID:C1855705,,,,,Stromme syndrome,MONDO:0009477,,MeSH ID:C565460,,,,OMIM ID:616369 | OMIM ID:243605 +BMGC_DS11479,BMG_DS039902,,UMLS ID:C1855714,,,,,"isovaleric acid, inability to smell",MONDO:0009474,,,,,,OMIM ID:243450 +BMGC_DS11480,BMG_DS039903,"Intrinsic Factor and R Binder, Combined Congenital Deficiency of",UMLS ID:C1855721,,,,,"intrinsic factor and r binder, combined congenital deficiency of",MONDO:0009471,,MeSH ID:C565461,,,,OMIM ID:243320 +BMGC_DS11481,BMG_DS039904,BARAITSER-WINTER SYNDROME 1,UMLS ID:C1855722,,,,,Baraitser-Winter syndrome 1,MONDO:0009470,,,Baraitser-Winter syndrome 1,DOID:0081112,,OMIM ID:102630 | OMIM ID:243310 +BMGC_DS11482,BMG_DS039905,Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth,UMLS ID:C1855732,,,,,natal teeth-intestinal pseudoobstruction-patent ductus syndrome,MONDO:0009467,,MeSH ID:C538341,,,,OMIM ID:243185 +BMGC_DS11483,BMG_DS039906,Neuronal intestinal pseudoobstruction,UMLS ID:C1855733,,,,,"visceral neuropathy, familial, 1, autosomal recessive",MONDO:8000011,,MeSH ID:C537394,,,,OMIM ID:243180 +BMGC_DS11484,BMG_DS039907,IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1,UMLS ID:C1855735,,,,,immunodeficiency with defective T-cell response to interleukin 1,MONDO:0009464,,,,,,OMIM ID:243110 +BMGC_DS11485,BMG_DS039908,,UMLS ID:C1855736,,,,,"internal carotid arteries, hypoplasia of",MONDO:0009463,,,,,,OMIM ID:243100 +BMGC_DS11486,BMG_DS039909,"Inosine Phosphorylase Deficiency, Immune Defect Due To",UMLS ID:C1855737,,,,,"inosine phosphorylase deficiency, immune defect due to",MONDO:0009462,,MeSH ID:C565465,,,,OMIM ID:243080 +BMGC_DS11487,BMG_DS039910,Indolylacroyl Glycinuria with Mental Retardation,UMLS ID:C1855738,,,,,indolylacroyl glycinuria with intellectual disability,MONDO:0009460,,MeSH ID:C565466,,,,OMIM ID:243050 +BMGC_DS11488,BMG_DS039911,"Indifference to Pain, Congenital, Autosomal Recessive",UMLS ID:C1855739,,,,,"channelopathy-associated congenital insensitivity to pain, autosomal recessive",MONDO:0009459,,MeSH ID:C565467,,,,OMIM ID:243000 +BMGC_DS11489,BMG_DS039912,,UMLS ID:C1855761,,,,,"immunoglobulin d level in plasma, low",MONDO:0009457,,,,,,OMIM ID:242890 +BMGC_DS11490,BMG_DS039915,Absent corpus callosum cataract immunodeficiency,UMLS ID:C1855772,,,,,Vici syndrome,MONDO:0009452,,MeSH ID:C535566,Vici syndrome,DOID:0060356,,OMIM ID:242840 +BMGC_DS11491,BMG_DS039916,"Ichthyosis, Split Hairs, and Amino Aciduria",UMLS ID:C1855786,,,,,"ichthyosis, split hairs, and amino aciduria",MONDO:0009447,,MeSH ID:C565471,,,,OMIM ID:242550 +BMGC_DS11492,BMG_DS039917,"Ichthyosis, mental retardation, dwarfism, and renal impairment",UMLS ID:C1855787,,,,,ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,MONDO:0009446,,MeSH ID:C536274,,,,OMIM ID:242530 +BMGC_DS11493,BMG_DS039918,Jagell Holmgren Hofer syndrome,UMLS ID:C1855788,,,,,ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,MONDO:0009444,,MeSH ID:C537364,,,,OMIM ID:242510 +BMGC_DS11494,BMG_DS039919,Self-Healing Collodion Baby,UMLS ID:C1855789,,,,,self-healing collodion baby,MONDO:0017267,,MeSH ID:C565473,,,, +BMGC_DS11495,BMG_DS039920,"Hypouricemia, Hypercalcinuria, and Decreased Bone Density",UMLS ID:C1855793,,,,,"hypouricemia, hypercalcinuria, and decreased bone density",MONDO:0009438,,MeSH ID:C565475,,,,OMIM ID:242050 +BMGC_DS11496,BMG_DS039921,Bamforth syndrome,UMLS ID:C1855794,,,,,Bamforth-Lazarus syndrome,MONDO:0009437,,MeSH ID:C537901,,,,OMIM ID:241850 +BMGC_DS11497,BMG_DS039922,"Hypoproteinemia, Hypercatabolic",UMLS ID:C1855796,,,,,"hypoproteinemia, hypercatabolic",MONDO:0009434,,MeSH ID:C565476,immunodeficiency 43,DOID:0111981,,OMIM ID:241600 +BMGC_DS11498,BMG_DS039925,"Hypoparathyroidism, intellectual disability, dysmorphism syndrome",UMLS ID:C1855840,"Sanjad Sakati syndrome (disorder) | Richardson Kirk syndrome | Hypoparathyroidism, short stature, intellectual disability, seizures syndrome | Hypoparathyroidism, intellectual disability, dysmorphism syndrome | Sanjad Sakati syndrome | SSS - Sanjad Sakati syndrome",SNOMEDCT ID:1197148005,,,hypoparathyroidism-retardation-dysmorphism syndrome,MONDO:0009426,,,hypoparathyroidism-retardation-dysmorphism syndrome,DOID:0060348,,OMIM ID:241410 +BMGC_DS11499,BMG_DS039927,,UMLS ID:C1855848,,,,,hypomandibular faciocranial dysostosis,MONDO:0009425,,,,,,OMIM ID:241310 +BMGC_DS11500,BMG_DS039928,"Bartter syndrome, antenatal , type 2",UMLS ID:C1855849,,,,,Bartter disease type 2,MONDO:0009424,,MeSH ID:C537651,,,,OMIM ID:241200 +BMGC_DS11501,BMG_DS039929,Hypohidrosis with Abnormal Palmar Dermal Ridges,UMLS ID:C1855856,,,,,hypohidrosis with abnormal palmar dermal Ridges,MONDO:0009422,,MeSH ID:C565481,,,,OMIM ID:241120 +BMGC_DS11502,BMG_DS039930,Hypogonadism with Low-Grade Mental Deficiency and Microcephaly,UMLS ID:C1855858,,,,,hypogonadism with low-grade mental deficiency and microcephaly,MONDO:0009418,,MeSH ID:C565482,,,,OMIM ID:241000 +BMGC_DS11503,BMG_DS039931,HYPOGONADISM-CATARACT SYNDROME,UMLS ID:C1855859,,,,,hypergonadotropic hypogonadism-cataract syndrome,MONDO:0009417,,,,,,OMIM ID:240950 +BMGC_DS11504,BMG_DS039932,"Glycogen Storage Disease 0, Liver",UMLS ID:C1855861,,,,,glycogen storage disorder due to hepatic glycogen synthase deficiency,MONDO:0009414,,MeSH ID:C565485,,,,OMIM ID:240600 +BMGC_DS11505,BMG_DS039933,"Polyglandular Deficiency Syndrome, Persian-Jewish Type",UMLS ID:C1855868,,,,,,,,MeSH ID:C538275,,,, +BMGC_DS11506,BMG_DS039934,"Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",UMLS ID:C1855869,,,,,,,,MeSH ID:C538275,,,, +BMGC_DS11507,BMG_DS039936,"Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase",UMLS ID:C1855884,,,,,"hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase",MONDO:0009408,,MeSH ID:C565489,,,,OMIM ID:240000 +BMGC_DS11508,BMG_DS039937,Hypertrophic Neuropathy And Cataract,UMLS ID:C1855885,,,,,hypertrophic neuropathy and cataract,MONDO:0009407,,MeSH ID:C565490,,,,OMIM ID:239900 +BMGC_DS11509,BMG_DS039938,X-linked congenital generalized hypertrichosis,UMLS ID:C1855900,X-linked congenital generalized hypertrichosis | X-linked congenital generalized hypertrichosis (disorder) | X-linked congenital generalised hypertrichosis | Congenital generalised hypertrichosis Macias-Flores type | Congenital generalized hypertrichosis Macias-Flores type | Macias-Flores Garcia-Cruz Rivera syndrome,SNOMEDCT ID:1010628009,,,,,,,,,, +BMGC_DS11510,BMG_DS039939,"Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy",UMLS ID:C1855902,,,,,cervical hypertrichosis-peripheral neuropathy syndrome,MONDO:0009405,,MeSH ID:C565492,,,,OMIM ID:239840 +BMGC_DS11511,BMG_DS039940,Hypertelorism and tetralogy of Fallot,UMLS ID:C1855903,,,,,hypertelorism and tetralogy of fallot,MONDO:0009403,,MeSH ID:C538386,,,,OMIM ID:239711 +BMGC_DS11512,BMG_DS039941,Naguib-Richieri-Costa syndrome,UMLS ID:C1855904,,,,,acrofrontofacionasal dysostosis 2,MONDO:0009402,,MeSH ID:C538332,,,,OMIM ID:239710 +BMGC_DS11513,BMG_DS039943,Hyperphosphatasemia with intellectual disability,UMLS ID:C1855923,Hyperphosphatasemia with mental retardation | Hyperphosphatasaemia with mental retardation | Hyperphosphatasia with seizures and neurologic deficit | Mabry syndrome | Hyperphosphatasaemia with intellectual disability | Hyperphosphatasemia with intellectual disability (disorder) | Hyperphosphatasemia with intellectual disability,SNOMEDCT ID:33982008,,,hyperphosphatasia-intellectual disability syndrome,MONDO:0016596,,,hyperphosphatasia with impaired intellectual development syndrome,DOID:0070431,, +BMGC_DS11514,BMG_DS039944,"Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria",UMLS ID:C1855924,,,,,"hyperparathyroidism, neonatal self-limited primary, with hypercalciuria",MONDO:0009396,,MeSH ID:C565496,,,,OMIM ID:239199 +BMGC_DS11515,BMG_DS039945,,UMLS ID:C1855925,,,,,"hyperopia, high",MONDO:0009392,,,,,,OMIM ID:238950 +BMGC_DS11516,BMG_DS039947,Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria,UMLS ID:C1855927,,,,,hyperlysinemia due to defect in lysine transport into mitochondria,MONDO:0009389,,MeSH ID:C565499,,,,OMIM ID:238710 +BMGC_DS11517,BMG_DS039948,,UMLS ID:C1855928,,,,,hyperlexia,MONDO:0009386,,,,,,OMIM ID:238350 +BMGC_DS11518,BMG_DS039949,,UMLS ID:C1855986,,,,,seizures-intellectual disability due to hydroxylysinuria syndrome,MONDO:0009373,,,,,,OMIM ID:236900 +BMGC_DS11519,BMG_DS039950,L-2-HYDROXYGLUTARIC ACIDURIA,UMLS ID:C1855995,,,,,L-2-hydroxyglutaric aciduria,MONDO:0009370,,,L-2-hydroxyglutaric aciduria,DOID:0050574,,OMIM ID:609584 | OMIM ID:236792 +BMGC_DS11520,BMG_DS039952,HYDROLETHALUS SYNDROME 1,UMLS ID:C1856016,,,,,hydrolethalus syndrome 1,MONDO:0009365,,,,,,OMIM ID:610693 | OMIM ID:236680 +BMGC_DS11521,BMG_DS039953,Daish Hardman Lamont syndrome,UMLS ID:C1856051,"Hydrocephalus, tall stature, joint laxity syndrome (disorder) | Hydrocephalus, tall stature, joint laxity syndrome | Daish Hardman Lamont syndrome | Hydrocephaly, tall stature, joint laxity syndrome",SNOMEDCT ID:732926009,,,hydrocephaly-tall stature-joint laxity syndrome,MONDO:0009363,,MeSH ID:C535770,,,,OMIM ID:236660 +BMGC_DS11522,BMG_DS039955,Hydranencephaly with Renal Aplasia-Dysplasia,UMLS ID:C1856053,,,,,multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,MONDO:0009359,,MeSH ID:C565507,,,,OMIM ID:236500 +BMGC_DS11523,BMG_DS039956,HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME,UMLS ID:C1856054,,,,,Hutterite cerebroosteonephrodysplasia syndrome,MONDO:0009358,,,,,,OMIM ID:236450 +BMGC_DS11524,BMG_DS039957,Humeroradial Multiple Synostosis Syndrome,UMLS ID:C1856055,,,,,autosomal recessive humeroradial synostosis,MONDO:0009356,,MeSH ID:C565509,,,,OMIM ID:236400 +BMGC_DS11525,BMG_DS039958,"Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type",UMLS ID:C1856057,,,,,methylcobalamin deficiency type cblE,MONDO:0009354,,MeSH ID:C565510,,,,OMIM ID:236270 +BMGC_DS11526,BMG_DS039960,Methylenetetrahydrofolate reductase deficiency,UMLS ID:C1856061,,,,,homocystinuria due to methylene tetrahydrofolate reductase deficiency,MONDO:0009353,,MeSH ID:C537357,,,ICD10 ID:E72.12,OMIM ID:MTHU012414 | OMIM ID:236250 +BMGC_DS11527,BMG_DS039961,Holzgreve Wagner Rehder syndrome,UMLS ID:C1856095,"Holzgreve Wagner Rehder syndrome | Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome | Holzgreve syndrome (disorder) | Holzgreve syndrome",SNOMEDCT ID:783159001,,,Holzgreve-Wagner-Rehder syndrome,MONDO:0009350,,MeSH ID:C535327,Holzgreve-Wagner-Rehder Syndrome,DOID:0060566,,OMIM ID:236110 +BMGC_DS11528,BMG_DS039962,Al Gazali Hirschsprung syndrome,UMLS ID:C1856110,,,,,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,MONDO:0009344,,MeSH ID:C535615,,,,OMIM ID:235760 +BMGC_DS11529,BMG_DS039963,"Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect",UMLS ID:C1856111,,,,,"Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect",MONDO:0009343,,MeSH ID:C565517,,,,OMIM ID:235750 +BMGC_DS11530,BMG_DS039964,"Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness",UMLS ID:C1856112,,,,,Hirschsprung disease-hearing loss-polydactyly syndrome,MONDO:0009342,,MeSH ID:C565518,,,,OMIM ID:235740 +BMGC_DS11531,BMG_DS039965,Mowat-Wilson syndrome,UMLS ID:C1856113,Mowat-Wilson syndrome (disorder) | Mowat-Wilson syndrome | Hirschsprung disease-mental retardation syndrome | Hirschsprung disease-intellectual disability syndrome,SNOMEDCT ID:703535000,,,Mowat-Wilson syndrome,MONDO:0009341,,MeSH ID:C536990,Mowat-Wilson syndrome,DOID:0060485,,OMIM ID:235730 +BMGC_DS11532,BMG_DS039966,"Bile acid synthesis defect, congenital, 2",UMLS ID:C1856127,,,,,congenital bile acid synthesis defect 2,MONDO:0009339,,MeSH ID:C535443,congenital bile acid synthesis defect 2,DOID:0111069,,OMIM ID:235555 +BMGC_DS11533,BMG_DS039967,Hepatic venoocclusive disease with immunodeficiency,UMLS ID:C1856128,,,,,hepatic veno-occlusive disease-immunodeficiency syndrome,MONDO:0009338,,MeSH ID:C537257,hepatic venoocclusive disease with immunodeficiency,DOID:0112254,,OMIM ID:235550 +BMGC_DS11534,BMG_DS039969,Hemolytic Anemia with Thermal Sensitivity of Red Cells,UMLS ID:C1856158,,,,,hemolytic anemia with thermal sensitivity of red cells,MONDO:0009334,,MeSH ID:C565522,,,,OMIM ID:235370 +BMGC_DS11535,BMG_DS039970,Urioste Martinez-Frias syndrome,UMLS ID:C1856159,,,,,mullerian derivatives-lymphangiectasia-polydactyly syndrome,MONDO:0009333,,MeSH ID:C536478,,,,OMIM ID:235255 +BMGC_DS11536,BMG_DS039971,"HEMIHYPERPLASIA, ISOLATED",UMLS ID:C1856184,,,,,isolated hemihyperplasia,MONDO:0009331,,,,,,OMIM ID:235000 +BMGC_DS11537,BMG_DS039972,Deafness enamel hypoplasia nail defects,UMLS ID:C1856186,,,,,obsolete Heimler syndrome,MONDO:0100229,,MeSH ID:C535994,,,, +BMGC_DS11538,BMG_DS039973,Kleiner Holmes syndrome,UMLS ID:C1856197,"Kleiner Holmes syndrome | Hallux varus, preaxial polysyndactyly syndrome | Hallux varus, preaxial polysyndactyly syndrome (disorder)",SNOMEDCT ID:771180005,,,hallux varus-preaxial polysyndactyly syndrome,MONDO:0009321,,MeSH ID:C536885,,,,OMIM ID:234280 +BMGC_DS11539,BMG_DS039974,Hall Riggs mental retardation syndrome,UMLS ID:C1856198,,,,,Hall-Riggs syndrome,MONDO:0009320,,MeSH ID:C535623,,,,OMIM ID:234250 +BMGC_DS11540,BMG_DS039975,Hair defect with photosensitivity and mental retardation,UMLS ID:C1856241,,,,,hair defect with photosensitivity and intellectual disability syndrome,MONDO:0022316,,MeSH ID:C537628,,,,OMIM ID:234030 +BMGC_DS11541,BMG_DS039977,Grouped Pigmentation of the Macula,UMLS ID:C1856244,,,,,grouped pigmentation of the retina,MONDO:0009311,,MeSH ID:C565530,,,,OMIM ID:233800 +BMGC_DS11542,BMG_DS039978,"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II",UMLS ID:C1856245,,,,,"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2",MONDO:0009310,,MeSH ID:C565531,,,,OMIM ID:233710 +BMGC_DS11543,BMG_DS039979,"Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",UMLS ID:C1856251,,,,,"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1",MONDO:0009309,,MeSH ID:C565532,,,,OMIM ID:233700 +BMGC_DS11544,BMG_DS039980,"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4",UMLS ID:C1856255,,,,,"granulomatous disease, chronic, autosomal recessive, cytochrome b-negative",MONDO:0009308,,,autosomal recessive chronic granulomatous disease 4,DOID:0070193,,OMIM ID:233690 | OMIM ID:608508 +BMGC_DS11545,BMG_DS039981,Granulomatous Disease with Defect in Neutrophil Chemotaxis,UMLS ID:C1856261,,,,,granulomatous disease with defect in neutrophil chemotaxis,MONDO:0009307,,MeSH ID:C565534,,,,OMIM ID:233670 +BMGC_DS11546,BMG_DS039982,Granulocytopenia with Immunoglobulin Abnormality,UMLS ID:C1856263,,,,,granulocytopenia with immunoglobulin abnormality,MONDO:0009305,,MeSH ID:C565535,immunodeficiency 59,DOID:0111974,,OMIM ID:233600 +BMGC_DS11547,BMG_DS039984,,UMLS ID:C1856273,,,,,"46,XY sex reversal 7",MONDO:0009301,,,,,,OMIM ID:233420 +BMGC_DS11548,BMG_DS039985,GOMBO syndrome,UMLS ID:C1856274,,,,,GOMBO syndrome,MONDO:0009298,,MeSH ID:C537284,,,,OMIM ID:233270 +BMGC_DS11549,BMG_DS039986,Glycoprotein Storage Disease,UMLS ID:C1856275,,,,,glycoprotein storage disease,MONDO:0009296,,MeSH ID:C565538,,,,OMIM ID:232900 +BMGC_DS11550,BMG_DS039987,"GSD IV, Classic Hepatic",UMLS ID:C1856301,,,,,,,,MeSH ID:C565539,,,, +BMGC_DS11551,BMG_DS039989,"GSD IV, Neuromuscular Form, Fatal Perinatal",UMLS ID:C1856303,,,,,"glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",MONDO:0017697,,MeSH ID:C565541,,,, +BMGC_DS11552,BMG_DS039990,"GSD IV, Neuromuscular Form, Congenital",UMLS ID:C1856304,,,,,"glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",MONDO:0017698,,MeSH ID:C565542,,,, +BMGC_DS11553,BMG_DS039991,"GSD IV, Neuromuscular Form, Childhood",UMLS ID:C1856305,,,,,"glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",MONDO:0017700,,MeSH ID:C565543,,,, +BMGC_DS11554,BMG_DS039994,"Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to",UMLS ID:C1856399,,,,,inherited glutathione synthetase deficiency | glutathione synthetase deficiency without 5-oxoprolinuria,MONDO:0009284;MONDO:0017909,,MeSH ID:C536835,glutathione synthetase deficiency,DOID:0080699,,OMIM ID:231900 +BMGC_DS11555,BMG_DS039995,Glutaric Aciduria IIA,UMLS ID:C1856401,,,,,,,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,MeSH ID:D054069,multiple acyl-CoA dehydrogenase deficiency,DOID:0060358,, +BMGC_DS11556,BMG_DS039996,Glutaric Aciduria IIB,UMLS ID:C1856403,,,,,,,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,MeSH ID:D054069,multiple acyl-CoA dehydrogenase deficiency,DOID:0060358,, +BMGC_DS11557,BMG_DS039997,Glutaric Aciduria IIC,UMLS ID:C1856405,,,,,,,Multiple Acyl Coenzyme A Dehydrogenase Deficiency,MeSH ID:D054069,multiple acyl-CoA dehydrogenase deficiency,DOID:0060358,, +BMGC_DS11558,BMG_DS039998,"GLAUCOMA 3, PRIMARY CONGENITAL, A",UMLS ID:C1856439,,,,,glaucoma 3A,MONDO:0009277,,,,,,OMIM ID:601771 | OMIM ID:231300 +BMGC_DS11559,BMG_DS040001,"Bernard-Soulier Syndrome, Type B",UMLS ID:C1856447,,,,,,,,MeSH ID:C565549,,,, +BMGC_DS11560,BMG_DS040002,"Bernard-Soulier Syndrome, Type C",UMLS ID:C1856448,,,,,,,,MeSH ID:C565550,,,, +BMGC_DS11561,BMG_DS040003,,UMLS ID:C1856465,,,,,ghosal hematodiaphyseal dysplasia,MONDO:0009274,,,,,,OMIM ID:231095 +BMGC_DS11562,BMG_DS040004,Genito palato cardiac syndrome,UMLS ID:C1856466,,,,,genito-palato-cardiac syndrome,MONDO:0009270,,MeSH ID:C537683,,,,OMIM ID:231060 +BMGC_DS11563,BMG_DS040005,"Gaucher Disease, Type Iiic",UMLS ID:C1856476,,,,,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,MONDO:0009268,,MeSH ID:C565553,,,,OMIM ID:231005 +BMGC_DS11564,BMG_DS040009,"Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to",UMLS ID:C1856603,,,,,gamma-glutamylcysteine synthetase deficiency,MONDO:0009259,,MeSH ID:C565557,congenital nonspherocytic hemolytic anemia 7,DOID:0111681,,OMIM ID:230450 +BMGC_DS11565,BMG_DS040010,Fructose and Galactose Intolerance,UMLS ID:C1856686,,,,,fructose and galactose intolerance,MONDO:0009248,,MeSH ID:C565558,,,,OMIM ID:229500 +BMGC_DS11566,BMG_DS040012,FRIEDREICH ATAXIA 1,UMLS ID:C1856689,,,,,Friedreich ataxia 1,MONDO:0100340,,,,,,OMIM ID:229300 +BMGC_DS11567,BMG_DS040014,Fraser-Like Syndrome,UMLS ID:C1856708,,,,,Fraser-like syndrome,MONDO:0009243,,MeSH ID:C565562,,,,OMIM ID:229230 +BMGC_DS11568,BMG_DS040015,"Follicle-stimulating hormone deficiency, isolated",UMLS ID:C1856716,,,,,,,,MeSH ID:C537070,,,, +BMGC_DS11569,BMG_DS040016,"Fleck Retina, Familial Benign",UMLS ID:C1856718,,,,,familial benign flecked retina,MONDO:0009235,,MeSH ID:C565564,familial benign fleck retina,DOID:0111677,,OMIM ID:228980 +BMGC_DS11570,BMG_DS040017,"Kininogen Deficiency, Total",UMLS ID:C1856719,,,,,,,,MeSH ID:C537060,,,, +BMGC_DS11571,BMG_DS040019,Fuhrmann syndrome,UMLS ID:C1856728,Fuhrmann syndrome (disorder) | Fuhrmann syndrome | Fuhrmann Rieger de Sousa syndrome,SNOMEDCT ID:721296004,,,Fuhrmann syndrome,MONDO:0009232,,MeSH ID:C538189,Fuhrmann syndrome,DOID:0090067,,OMIM ID:228930 +BMGC_DS11572,BMG_DS040020,Fibular hypoplasia and complex brachydactyly,UMLS ID:C1856738,,,,,acromesomelic dysplasia 2B,MONDO:0009231,,MeSH ID:C537931,fibular hypoplasia and complex brachydactyly,DOID:0050790,,OMIM ID:228900 +BMGC_DS11573,BMG_DS040023,Femur bifid with monodactylous ectrodactyly,UMLS ID:C1856789,,,,,Gollop-Wolfgang complex,MONDO:0009222,,MeSH ID:C537917,,,,OMIM ID:228250 +BMGC_DS11574,BMG_DS040027,Autosomal recessive facio-digito-genital syndrome,UMLS ID:C1856871,Autosomal recessive faciodigitogenital syndrome (disorder) | Autosomal recessive facio-digito-genital syndrome | Aarskog-like syndrome | Autosomal recessive faciodigitogenital syndrome | Facio-digito-genital syndrome Kuwait type | Teebi Naguib Alawadi syndrome,SNOMEDCT ID:725434009,,,autosomal recessive faciodigitogenital syndrome,MONDO:0009209,,,,,,OMIM ID:227330 +BMGC_DS11575,BMG_DS040028,"Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor",UMLS ID:C1856882,,,,,"factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor",MONDO:0009207,,MeSH ID:C565577,,,,OMIM ID:227310 +BMGC_DS11576,BMG_DS040029,,UMLS ID:C1856883,,,,,combined deficiency of factor V and factor VIII,MONDO:0018175,,,,,, +BMGC_DS11577,BMG_DS040030,"Faciocardiomelic Dysplasia, Lethal",UMLS ID:C1856891,,,,,lethal faciocardiomelic dysplasia,MONDO:0009204,,MeSH ID:C565578,,,,OMIM ID:227270 +BMGC_DS11578,BMG_DS040031,Facial Dysmorphism with Multiple Malformations,UMLS ID:C1856892,,,,,Thakker-Donnai syndrome,MONDO:0009202,,MeSH ID:C565579,,,,OMIM ID:227255 +BMGC_DS11579,BMG_DS040034,"Eunuchoidism, familial hypogonadotropic",UMLS ID:C1856897,,,,,hypogonadotropic hypogonadism 12 with or without anosmia,MONDO:0013914,,MeSH ID:C535764,,,,OMIM ID:227200 | OMIM ID:614841 +BMGC_DS11580,BMG_DS040035,,UMLS ID:C1856898,,,,,congenital lethal erythroderma,MONDO:0009198,,,,,,OMIM ID:227090 +BMGC_DS11581,BMG_DS040036,Ermine phenotype,UMLS ID:C1856899,,,,,ermine phenotype,MONDO:0009196,,MeSH ID:C535508,,,,OMIM ID:227010 +BMGC_DS11582,BMG_DS040037,,UMLS ID:C1856900,,,,,erythema of acral regions,MONDO:0009195,,,,,,OMIM ID:227000 +BMGC_DS11583,BMG_DS040039,"Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness",UMLS ID:C1856918,,,,,"epiphyseal dysplasia of femoral head, myopia, and deafness",MONDO:0009190,,MeSH ID:C565585,,,,OMIM ID:226950 +BMGC_DS11584,BMG_DS040040,Epilepsy telangiectasia,UMLS ID:C1856929,,,,,epilepsy-telangiectasia syndrome,MONDO:0009188,,MeSH ID:C535497,,,,OMIM ID:226850 +BMGC_DS11585,BMG_DS040041,Epilepsy occipital calcifications,UMLS ID:C1856930,,,,,celiac disease-epilepsy-cerebral calcification syndrome,MONDO:0009187,,MeSH ID:C535496,,,,OMIM ID:226810 +BMGC_DS11586,BMG_DS040042,"Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation",UMLS ID:C1856931,,,,,"epilepsy, photogenic, with spastic diplegia and intellectual disability",MONDO:0009186,,MeSH ID:C565587,,,,OMIM ID:226800 +BMGC_DS11587,BMG_DS040043,Epidermolysis Bullosa With Diaphragmatic Hernia,UMLS ID:C1856933,,,,,epidermolysis bullosa with diaphragmatic hernia,MONDO:0009184,,MeSH ID:C565588,,,,OMIM ID:226735 +BMGC_DS11588,BMG_DS040044,Epidermolysis bullosa with pyloric atresia,UMLS ID:C1856934,,,,,,,,MeSH ID:C535377,,,, +BMGC_DS11589,BMG_DS040047,Endocardial Fibroelastosis and Coarctation of Abdominal Aorta,UMLS ID:C1856971,,,,,endocardial fibroelastosis and coarctation of abdominal aorta,MONDO:0009170,,MeSH ID:C565592,,,,OMIM ID:226100 +BMGC_DS11590,BMG_DS040048,Encephaloclastic Proliferative Vasculopathy,UMLS ID:C1856972,,,,,Fowler syndrome,MONDO:0009168,,MeSH ID:C565593,proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome,DOID:0111666,,OMIM ID:225790 +BMGC_DS11591,BMG_DS040050,Pontocerebellar hypoplasia type 4,UMLS ID:C1856974,Congenital pontocerebellar hypoplasia type 4 (disorder) | Congenital pontocerebellar hypoplasia type 4 | PCH4 - pontocerebellar hypoplasia type 4 | Pontocerebellar hypoplasia type 4 | Fatal infantile encephalopathy with olivopontocerebellar hypoplasia,SNOMEDCT ID:718608006,,,pontocerebellar hypoplasia type 4,MONDO:0009166,,,pontocerebellar hypoplasia type 4,DOID:0060273,,OMIM ID:225753 +BMGC_DS11592,BMG_DS040052,"Encephalomalacia, Multilocular",UMLS ID:C1856991,,,,,"encephalomalacia, multilocular",MONDO:0009163,,MeSH ID:C565597,,,,OMIM ID:225700 +BMGC_DS11593,BMG_DS040055,"Ehlers-Danlos syndrome, cardiac valvular form",UMLS ID:C1857034,,,,,,,,MeSH ID:C536200,,,, +BMGC_DS11594,BMG_DS040056,Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality,UMLS ID:C1857038,,,,,"Ehlers-Danlos syndrome, fibronectinemic type",MONDO:0009158,,MeSH ID:C565600,,,,OMIM ID:225310 +BMGC_DS11595,BMG_DS040057,Ectrodactyly-Polydactyly,UMLS ID:C1857040,,,,,ectrodactyly-polydactyly syndrome,MONDO:0009156,,MeSH ID:C565601,,,,OMIM ID:225290 +BMGC_DS11596,BMG_DS040058,"Ectodermal dysplasia, ectrodactyly, and macular dystrophy",UMLS ID:C1857041,,,,,EEM syndrome,MONDO:0009155,,MeSH ID:C536190,,,,OMIM ID:225280 +BMGC_DS11597,BMG_DS040059,"Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia",UMLS ID:C1857052,,,,,hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,MONDO:0009150,,MeSH ID:C565604,,,,OMIM ID:225050 +BMGC_DS11598,BMG_DS040061,Ectodermal Dysplasia and Neurosensory Deafness,UMLS ID:C1857068,,,,,ectodermal dysplasia-sensorineural deafness syndrome,MONDO:0009146,,MeSH ID:C565606,,,,OMIM ID:224800 +BMGC_DS11599,BMG_DS040062,Schopf-Schulz-Passarge Syndrome,UMLS ID:C1857069,,,,,SchC6pf-Schulz-Passarge syndrome,MONDO:0009145,,MeSH ID:C565607,Schopf-Schulz-Passarge syndrome,DOID:0111647,,OMIM ID:224750 +BMGC_DS11600,BMG_DS040065,Dystonia musculorum deformans type 2,UMLS ID:C1857093,,,,,torsion dystonia 2,MONDO:0009141,,MeSH ID:C538006,,,,OMIM ID:224500 +BMGC_DS11601,BMG_DS040066,Dyssegmental dysplasia,UMLS ID:C1857100,,,,,Silverman-Handmaker type dyssegmental dysplasia,MONDO:0009140,,MeSH ID:C537998,,,,OMIM ID:224410 | OMIM ID:MTHU013285 +BMGC_DS11602,BMG_DS040068,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1",UMLS ID:C1857144,,,,,"dyskeratosis congenita, autosomal recessive 1",MONDO:0009136,,,autosomal recessive dyskeratosis congenita 1,DOID:0070015,,OMIM ID:224230 | OMIM ID:606471 +BMGC_DS11603,BMG_DS040069,Dysautonomia like disorder,UMLS ID:C1857153,,,,,dysautonomia-like disorder,MONDO:0009132,,MeSH ID:C535728,,,,OMIM ID:224000 +BMGC_DS11604,BMG_DS040070,"Dwarfism, Proportionate, with Hip Dislocation",UMLS ID:C1857196,,,,,"dwarfism, proportionate, with hip dislocation",MONDO:0009129,,MeSH ID:C565614,,,,OMIM ID:223550 +BMGC_DS11605,BMG_DS040071,"Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone",UMLS ID:C1857197,,,,,"dwarfism, low-birth-weight type, with unresponsiveness to growth hormone",MONDO:0009127,,MeSH ID:C565615,,,,OMIM ID:223500 +BMGC_DS11606,BMG_DS040072,,UMLS ID:C1857225,,,,,Dohle bodies and leukemia,MONDO:0009122,,,,,,OMIM ID:223350 +BMGC_DS11607,BMG_DS040073,DK Phocomelia Syndrome,UMLS ID:C1857226,,,,,von Voss-Cherstvoy syndrome,MONDO:0009121,,MeSH ID:C565618,,,,OMIM ID:223340 +BMGC_DS11608,BMG_DS040077,"Rhizomelic chondrodysplasia punctata, type 2",UMLS ID:C1857242,,,,,rhizomelic chondrodysplasia punctata type 2,MONDO:0009112,,MeSH ID:C537607,rhizomelic chondrodysplasia punctata type 2,DOID:0110852,,OMIM ID:222765 +BMGC_DS11609,BMG_DS040078,"2,4-Dienoyl-CoA Reductase Deficiency",UMLS ID:C1857252,,,,,progressive encephalopathy with leukodystrophy due to DECR deficiency,MONDO:0014464,,MeSH ID:C565624,,,,OMIM ID:616034 +BMGC_DS11610,BMG_DS040079,Dicarboxylicaminoaciduria,UMLS ID:C1857253,,,,,dicarboxylic aminoaciduria,MONDO:0009110,,MeSH ID:C536171,dicarboxylic aminoaciduria,DOID:0060650,,OMIM ID:222730 +BMGC_DS11611,BMG_DS040080,"Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",UMLS ID:C1857255,,,,,,,,MeSH ID:C565626,,,, +BMGC_DS11612,BMG_DS040081,Trichohepatoenteric Syndrome,UMLS ID:C1857276,,,,,trichohepatoenteric syndrome,MONDO:0009105,,MeSH ID:C565627,trichohepatoenteric syndrome,DOID:0111414,, +BMGC_DS11613,BMG_DS040082,Donnai-Barrow syndrome,UMLS ID:C1857277,Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) | Donnai-Barrow syndrome | Diaphragmatic hernia-exomphalos-corpus callosum agenesis | Diaphragmatic hernia-exomphalos-hypertelorism syndrome | Faciooculoacousticorenal syndrome,SNOMEDCT ID:702418009,,,Donnai-Barrow syndrome,MONDO:0009104,,MeSH ID:C536390,Donnai-Barrow syndrome,DOID:0090144,,OMIM ID:222448 +BMGC_DS11614,BMG_DS040083,,UMLS ID:C1857284,,,,,diaphragmatic hernia 2,MONDO:0009103,,,,,,OMIM ID:222400 +BMGC_DS11615,BMG_DS040084,Diaminopentanuria,UMLS ID:C1857285,,,,,diaminopentanuria,MONDO:0009102,,MeSH ID:C565630,,,,OMIM ID:222350 +BMGC_DS11616,BMG_DS040085,"Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification",UMLS ID:C1857297,,,,,nephrogenic diabetes insipidus-intracranial calcification syndrome,MONDO:0009099,,MeSH ID:C565632,,,,OMIM ID:221995 +BMGC_DS11617,BMG_DS040088,Dermatoleukodystrophy,UMLS ID:C1857314,Dermatoleukodystrophy | Dermatoleukodystrophy (disorder),SNOMEDCT ID:733044009,,,dermatoleukodystrophy,MONDO:0009093,,MeSH ID:C538220,,,,OMIM ID:221790 +BMGC_DS11618,BMG_DS040089,,UMLS ID:C1857316,,,,,polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly,MONDO:0009092,,,Nasu-Hakola disease,DOID:0090112,, +BMGC_DS11619,BMG_DS040090,"Deafness, Sensorineural, Autosomal-Mitochondrial Type",UMLS ID:C1857332,,,,,"hearing loss, sensorineural, autosomal-mitochondrial type",MONDO:0009090,,MeSH ID:C565637,,,,OMIM ID:221745 +BMGC_DS11620,BMG_DS040091,Deafness oligodontia syndrome,UMLS ID:C1857333,,,,,deafness-oligodontia syndrome,MONDO:0009089,,MeSH ID:C538049,,,,OMIM ID:221740 +BMGC_DS11621,BMG_DS040092,"Deafness, Neural, with Atypical Atopic Dermatitis",UMLS ID:C1857334,,,,,"deafness, neural, with atypical atopic dermatitis",MONDO:0009088,,MeSH ID:C565639,,,,OMIM ID:221700 +BMGC_DS11622,BMG_DS040093,"Deafness, Neural, Congenital Moderate",UMLS ID:C1857337,,,,,"deafness, neural, congenital moderate",MONDO:0009087,,MeSH ID:C565640,,,,OMIM ID:221500 +BMGC_DS11623,BMG_DS040094,Groll Hirschowitz syndrome,UMLS ID:C1857338,"Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) | Deafness, small bowel diverticulosis, neuropathy syndrome | Groll Hirschowitz syndrome",SNOMEDCT ID:733071009,,,deafness-small bowel diverticulosis-neuropathy syndrome,MONDO:0009086,,MeSH ID:C537305,,,,OMIM ID:221400 +BMGC_DS11624,BMG_DS040095,"Deafness, Congenital, with Vitiligo and Achalasia",UMLS ID:C1857339,,,,,deafness-vitiligo-achalasia syndrome,MONDO:0009085,,MeSH ID:C565642,,,,OMIM ID:221350 +BMGC_DS11625,BMG_DS040096,Deafness conductive ptosis skeletal anomalies,UMLS ID:C1857340,,,,,conductive deafness-ptosis-skeletal anomalies syndrome,MONDO:0009084,,MeSH ID:C535993,,,,OMIM ID:221320 +BMGC_DS11626,BMG_DS040097,"Deafness, Conductive, with Malformed External Ear",UMLS ID:C1857341,,,,,conductive deafness-malformed external ear syndrome,MONDO:0009083,,MeSH ID:C565644,,,,OMIM ID:221300 +BMGC_DS11627,BMG_DS040099,"Deafness, Congenital, with Total Albinism",UMLS ID:C1857343,,,,,"deafness, congenital, with total albinism",MONDO:0009081,,MeSH ID:C565646,,,,OMIM ID:220900 +BMGC_DS11628,BMG_DS040100,Split-Hand-Foot Malformation With Sensorineural Hearing Loss,UMLS ID:C1857344,,,,,split hand-foot malformation 1 with sensorineural hearing loss,MONDO:0009080,,MeSH ID:C565647,,,,OMIM ID:220600 +BMGC_DS11629,BMG_DS040102,Dandy Walker malformation postaxial polydactyly,UMLS ID:C1857351,,,,,Dandy-Walker malformation-postaxial polydactyly syndrome,MONDO:0009075,,MeSH ID:C535771,,,,OMIM ID:220220 +BMGC_DS11630,BMG_DS040104,"Leigh syndrome , French Canadian type",UMLS ID:C1857355,,,,,"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",MONDO:0009069,,MeSH ID:C537004,French Canadian Leigh disease,DOID:0111180,,OMIM ID:220111 +BMGC_DS11631,BMG_DS040105,"Cystinuria, Type A",UMLS ID:C1857388,,,,,cystinuria type A,MONDO:0019745,,MeSH ID:C565652,,,, +BMGC_DS11632,BMG_DS040106,"Cystinuria, Type B",UMLS ID:C1857389,,,,,cystinuria type B,MONDO:0019746,,MeSH ID:C565652,,,, +BMGC_DS11633,BMG_DS040108,De Toni-Debre-Fanconi Syndrome,UMLS ID:C1857395,,,,,primary Fanconi syndrome,MONDO:0007600,Fanconi Syndrome,MeSH ID:D005198,,,, +BMGC_DS11634,BMG_DS040109,Cystic Kidney Disease with Ventriculomegaly,UMLS ID:C1857423,,,,,ventriculomegaly-cystic kidney disease,MONDO:0009063,,MeSH ID:C565657,ventriculomegaly - cystic kidney disease,DOID:0111625,,OMIM ID:219730 +BMGC_DS11635,BMG_DS040111,Cysteine Peptiduria,UMLS ID:C1857438,,,,,cysteine Peptiduria,MONDO:0009059,,MeSH ID:C565659,,,,OMIM ID:219550 +BMGC_DS11636,BMG_DS040113,CUTIS VERTICIS GYRATA AND IMPAIRED INTELLECTUAL DEVELOPMENT,UMLS ID:C1857444,,,,,cutis verticis gyrata and intellectual disability,MONDO:0009056,,,,,,OMIM ID:219300 +BMGC_DS11637,BMG_DS040114,"Cutaneous photosensitivity and colitis, lethal",UMLS ID:C1857449,,,,,cutaneous photosensitivity-lethal colitis syndrome,MONDO:0009051,,MeSH ID:C536224,,,,OMIM ID:219095 +BMGC_DS11638,BMG_DS040115,Acth-Independent Macronodular Adrenal Hyperplasia,UMLS ID:C1857451,,,,,ACTH-independent macronodular adrenal hyperplasia 1,MONDO:0020735,,MeSH ID:C565662,,,,OMIM ID:219080 +BMGC_DS11639,BMG_DS040116,,UMLS ID:C1857452,,,,,curved nail of fourth toe,MONDO:0009048,,,,,,OMIM ID:219070 +BMGC_DS11640,BMG_DS040118,Craniosynostosis Mental Retardation Clefting Syndrome,UMLS ID:C1857472,,,,,craniosynostosis-intellectual disability-clefting syndrome,MONDO:0009041,,MeSH ID:C565663,,,,OMIM ID:218650 +BMGC_DS11641,BMG_DS040120,Craniosynostosis with Fibular Aplasia,UMLS ID:C1857492,,,,,craniosynostosis-fibular aplasia syndrome,MONDO:0009038,,MeSH ID:C565665,,,,OMIM ID:218550 +BMGC_DS11642,BMG_DS040123,Craniofacial dyssynostosis,UMLS ID:C1857511,,,,,craniofacial dyssynostosis,MONDO:0009034,,MeSH ID:C536455,,,,OMIM ID:218350 +BMGC_DS11643,BMG_DS040124,Temtamy syndrome,UMLS ID:C1857512,Temtamy syndrome | Temtamy Shalash syndrome | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) | Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome,SNOMEDCT ID:719947004,,,temtamy syndrome,MONDO:0009033,,MeSH ID:C536959,Temtamy syndrome,DOID:0111621,,OMIM ID:218340 +BMGC_DS11644,BMG_DS040125,"Cranial Nerves, Recurrent Paresis Of",UMLS ID:C1857530,,,,,"cranial nerves, recurrent paresis of",MONDO:0009030,,MeSH ID:C565672,,,,OMIM ID:218200 +BMGC_DS11645,BMG_DS040126,"Cranial Nerves, Congenital Paresis Of",UMLS ID:C1857531,,,,,"cranial nerves, congenital paresis of",MONDO:0009029,,MeSH ID:C565673,,,,OMIM ID:218100 +BMGC_DS11646,BMG_DS040128,,UMLS ID:C1857533,,,,,"cramps, familial adolescent",MONDO:0009027,,,,,,OMIM ID:218050 +BMGC_DS11647,BMG_DS040130,,UMLS ID:C1857569,,,,,congenital hereditary endothelial dystrophy of cornea,MONDO:0009019,,,,,,OMIM ID:217700 +BMGC_DS11648,BMG_DS040132,CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS,UMLS ID:C1857572,,,,,corneal dystrophy-perceptive deafness syndrome,MONDO:0009015,,,corneal dystrophy-perceptive deafness syndrome,DOID:0111620,,OMIM ID:217400 | OMIM ID:610206 +BMGC_DS11649,BMG_DS040133,CORNEA PLANA 2,UMLS ID:C1857574,,,,,cornea plana 2,MONDO:0009014,,,,,,OMIM ID:603288 | OMIM ID:217300 +BMGC_DS11650,BMG_DS040134,"Convulsive Disorder, Familial, with Prenatal or Early Onset",UMLS ID:C1857575,,,,,"convulsive disorder, familial, with prenatal or early onset",MONDO:0009013,,MeSH ID:C565678,,,,OMIM ID:217200 +BMGC_DS11651,BMG_DS040135,"Contractures, Congenital, Torticollis, and Malignant Hyperthermia",UMLS ID:C1857576,,,,,multiple pterygium-malignant hyperthermia syndrome,MONDO:0009012,,MeSH ID:C565679,,,,OMIM ID:217150 +BMGC_DS11652,BMG_DS040136,ADAM COMPLEX,UMLS ID:C1857577,,,,,,,,,,,,OMIM ID:217100 +BMGC_DS11653,BMG_DS040139,Conotruncal cardiac defects,UMLS ID:C1857586,,,,,conotruncal heart malformations,MONDO:0016581,,MeSH ID:C535464,,,,OMIM ID:217095 +BMGC_DS11654,BMG_DS040140,Orstavik Lindemann Solberg syndrome,UMLS ID:C1857587,,,,,heart defect - tongue hamartoma - polysyndactyly syndrome,MONDO:0009008,,MeSH ID:C537137,,,,OMIM ID:217085 +BMGC_DS11655,BMG_DS040141,Amaurosis hypertrichosis,UMLS ID:C1857588,,,,,amaurosis-hypertrichosis syndrome,MONDO:0008766,,MeSH ID:C536604,,,,OMIM ID:204110 +BMGC_DS11656,BMG_DS040143,Achromatopsia 2,UMLS ID:C1857618,,,,,achromatopsia 2,MONDO:0009003,,MeSH ID:C536128,achromatopsia 2,DOID:0110007,,OMIM ID:216900 +BMGC_DS11657,BMG_DS040144,Coloboma of Macula and Skeletal Anomalies,UMLS ID:C1857619,,,,,macular coloboma-cleft palate-hallux valgus syndrome,MONDO:0009001,,MeSH ID:C565686,,,,OMIM ID:216800 +BMGC_DS11658,BMG_DS040145,"COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING",UMLS ID:C1857624,,,,,familial reactive perforating collagenosis,MONDO:0009000,,,,,,OMIM ID:216700 +BMGC_DS11659,BMG_DS040147,COACH syndrome,UMLS ID:C1857662,"Joubert syndrome with congenital hepatic fibrosis (disorder) | Joubert syndrome with hepatic defect | Joubert syndrome with congenital hepatic fibrosis | Cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis | COACH syndrome | Gentile syndrome | COACH (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome",SNOMEDCT ID:721847002,,,COACH syndrome,MONDO:0100349,,MeSH ID:C536430,COACH syndrome,DOID:0111589,, +BMGC_DS11660,BMG_DS040148,Yunis Varon syndrome,UMLS ID:C1857663,,,,,Yunis-Varon syndrome,MONDO:0008995,,MeSH ID:C536719,Yunis-Varon syndrome,DOID:0060589,,OMIM ID:216340 +BMGC_DS11661,BMG_DS040149,Combined Oxidative Phosphorylation Deficiency 4,UMLS ID:C1857682,,,,,combined oxidative phosphorylation defect type 4,MONDO:0012534,,MeSH ID:C565690,combined oxidative phosphorylation deficiency 4,DOID:0111494,,OMIM ID:610678 +BMGC_DS11662,BMG_DS040150,"Telangiectasia, Hereditary Hemorrhagic, Type 4",UMLS ID:C1857688,,,,,hereditary hemorrhagic telangiectasia type 4,MONDO:0012532,,MeSH ID:C565691,,,,OMIM ID:610655 +BMGC_DS11663,BMG_DS040152,"Anemia, Diamond-Blackfan, 3",UMLS ID:C1857719,,,,,Diamond-Blackfan anemia 3,MONDO:0012529,,MeSH ID:C536355,Diamond-blackfan anemia 3,DOID:0111887,,OMIM ID:610629 +BMGC_DS11664,BMG_DS040154,Hereditary Angioedema Type III,UMLS ID:C1857728,,,,,hereditary angioedema type 3,MONDO:0012526,Hereditary Angioedema Type III,MeSH ID:D056828,hereditary angioedema type III,DOID:0080940,,OMIM ID:610618 +BMGC_DS11665,BMG_DS040155,Leber Congenital Amaurosis 12,UMLS ID:C1857743,,,,,Leber congenital amaurosis 12,MONDO:0012525,,MeSH ID:C565697,Leber congenital amaurosis 12,DOID:0110080,,OMIM ID:610612 +BMGC_DS11666,BMG_DS040156,"DEAFNESS, AUTOSOMAL RECESSIVE 59",UMLS ID:C1857744,,,,,autosomal recessive nonsyndromic hearing loss 59,MONDO:0012445,,,,,,OMIM ID:610219 | OMIM ID:610220 +BMGC_DS11667,BMG_DS040157,Neurodegeneration With Brain Iron Accumulation 2B,UMLS ID:C1857747,,,,,neurodegeneration with brain iron accumulation 2B,MONDO:0012444,,MeSH ID:C565699,,,,OMIM ID:610217 +BMGC_DS11668,BMG_DS040159,"DEAFNESS, AUTOSOMAL RECESSIVE 66",UMLS ID:C1857750,,,,,autosomal recessive nonsyndromic hearing loss 66,MONDO:0012442,,,,,,OMIM ID:610212 | OMIM ID:605755 +BMGC_DS11669,BMG_DS040160,,UMLS ID:C1857751,,,,,"migraine with or without aura, susceptibility to, 11",MONDO:0012441,,,,,,OMIM ID:610209 +BMGC_DS11670,BMG_DS040161,,UMLS ID:C1857752,,,,,"migraine with or without aura, susceptibility to, 10",MONDO:0012440,,,,,,OMIM ID:610208 +BMGC_DS11671,BMG_DS040162,Alagille Syndrome 2,UMLS ID:C1857761,,,,,Alagille syndrome due to a NOTCH2 point mutation,MONDO:0012439,Alagille Syndrome,MeSH ID:D016738,,,,OMIM ID:610205 +BMGC_DS11672,BMG_DS040163,"Olivopontocerebellar hypoplasia, fetal-onset",UMLS ID:C1857762,,,,,pontocerebellar hypoplasia type 5,MONDO:0012438,,MeSH ID:C537745,pontocerebellar hypoplasia type 5,DOID:0060274,,OMIM ID:610204 +BMGC_DS11673,BMG_DS040165,"Cataract, Pulverulent, Juvenile-Onset",UMLS ID:C1857768,,,,,cataract 21 multiple types,MONDO:0012437,,MeSH ID:C565703,,,,OMIM ID:610202 +BMGC_DS11674,BMG_DS040166,"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism",UMLS ID:C1857775,,,,,neonatal diabetes mellitus with congenital hypothyroidism,MONDO:0012436,,MeSH ID:C565705,,,,OMIM ID:610199 +BMGC_DS11675,BMG_DS040167,"3-@METHYLGLUTACONIC ACIDURIA, TYPE V",UMLS ID:C1857776,,,,,3-methylglutaconic aciduria type 5,MONDO:0012435,,,,,,OMIM ID:608977 | OMIM ID:610198 +BMGC_DS11676,BMG_DS040168,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",UMLS ID:C1857777,,,,,arrhythmogenic right ventricular dysplasia 10,MONDO:0012434,,MeSH ID:C565707,,,,OMIM ID:610193 +BMGC_DS11677,BMG_DS040169,SENIOR-LOKEN SYNDROME 6,UMLS ID:C1857779,,,,,Senior-Loken syndrome 6,MONDO:0012433,,,,,,OMIM ID:610142 | OMIM ID:610189 +BMGC_DS11678,BMG_DS040170,JOUBERT SYNDROME 5,UMLS ID:C1857780,,,,,Joubert syndrome 5,MONDO:0012432,,,,,,OMIM ID:610142 | OMIM ID:610188 +BMGC_DS11679,BMG_DS040171,,UMLS ID:C1857781,,,,,diaphragmatic hernia 3,MONDO:0012431,,,,,,OMIM ID:610187 +BMGC_DS11680,BMG_DS040173,Immunodeficiency due to Defect in CD3-Zeta,UMLS ID:C1857798,,,,,immunodeficiency 25,MONDO:0012426,,MeSH ID:C565712,immunodeficiency 25,DOID:0111942,,OMIM ID:610163 +BMGC_DS11681,BMG_DS040174,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2",UMLS ID:C1857800,,,,,"corneal dystrophy, fuchs endothelial, 2",MONDO:0012425,,,,,,OMIM ID:610158 +BMGC_DS11682,BMG_DS040175,MORM syndrome,UMLS ID:C1857802,"Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) | Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome | MORM syndrome | Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome | MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome",SNOMEDCT ID:715628009,,,MORM syndrome,MONDO:0012423,,MeSH ID:C536984,,,,OMIM ID:610156 +BMGC_DS11683,BMG_DS040177,"Diabetes Mellitus, Insulin-Dependent, 19",UMLS ID:C1857808,,,,,type 1 diabetes mellitus 19,MONDO:0012422,,MeSH ID:C565715,,,,OMIM ID:610155 +BMGC_DS11684,BMG_DS040178,"DEAFNESS, AUTOSOMAL RECESSIVE 44",UMLS ID:C1857809,,,,,autosomal recessive nonsyndromic hearing loss 44,MONDO:0012421,,,,,,OMIM ID:103072 | OMIM ID:610154 +BMGC_DS11685,BMG_DS040179,"DEAFNESS, AUTOSOMAL RECESSIVE 49",UMLS ID:C1857811,,,,,autosomal recessive nonsyndromic hearing loss 49,MONDO:0012420,,,,,,OMIM ID:610153 | OMIM ID:610572 +BMGC_DS11686,BMG_DS040180,"Macular Degeneration, Age-Related, 7",UMLS ID:C1857813,,,,,age related macular degeneration 7,MONDO:0012419,,MeSH ID:C565718,,,,OMIM ID:610149 +BMGC_DS11687,BMG_DS040181,"DEAFNESS, AUTOSOMAL RECESSIVE 62",UMLS ID:C1857820,,,,,autosomal recessive nonsyndromic hearing loss 62,MONDO:0012418,,,,,,OMIM ID:610143 +BMGC_DS11688,BMG_DS040182,Leber Congenital Amaurosis 10,UMLS ID:C1857821,,,,,Leber congenital amaurosis 10,MONDO:0012723,,MeSH ID:C565720,Leber congenital amaurosis 10,DOID:0110291,,OMIM ID:611755 +BMGC_DS11689,BMG_DS040184,"Heart-hand syndrome, Slovenian type",UMLS ID:C1857829,,,,,"heart-hand syndrome, Slovenian type",MONDO:0012417,,MeSH ID:C535852,,,,OMIM ID:610140 +BMGC_DS11690,BMG_DS040187,Williams-Beuren Region Duplication Syndrome,UMLS ID:C1857844,,,,,7q11.23 microduplication syndrome,MONDO:0012342,,MeSH ID:C565723,,,,OMIM ID:609757 +BMGC_DS11691,BMG_DS040188,,UMLS ID:C1857845,,,,,"celiac disease, susceptibility to, 3",MONDO:0012341,,,,,,OMIM ID:609755 +BMGC_DS11692,BMG_DS040190,,UMLS ID:C1857847,,,,,"celiac disease, susceptibility to, 4",MONDO:0012339,,,,,,OMIM ID:609753 +BMGC_DS11693,BMG_DS040193,"Cataract, Congenital Nuclear, Autosomal Recessive 2",UMLS ID:C1857853,,,,,cataract 22 multiple types,MONDO:0012336,,MeSH ID:C565725,,,,OMIM ID:609741 +BMGC_DS11694,BMG_DS040194,Proopiomelanocortin Deficiency,UMLS ID:C1857854,,,,,obesity due to pro-opiomelanocortin deficiency,MONDO:0012335,,MeSH ID:C565726,,,,OMIM ID:609734 +BMGC_DS11695,BMG_DS040195,"SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT",UMLS ID:C1857855,,,,,hereditary spastic paraplegia 29,MONDO:0012334,,,,,,OMIM ID:609727 +BMGC_DS11696,BMG_DS040196,"Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology",UMLS ID:C1857933,,,,,"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",MONDO:0011513,,MeSH ID:C565728,,,,OMIM ID:605055 +BMGC_DS11697,BMG_DS040197,Brooke-Spiegler syndrome,UMLS ID:C1857941,Brooke-Spiegler syndrome | Spiegler-Brooke syndrome | Brooke-Spiegler syndrome (disorder),SNOMEDCT ID:703531009,,,Brooke-Spiegler syndrome,MONDO:0011512,,MeSH ID:C536611,Brooke-Spiegler syndrome,DOID:0050693,,OMIM ID:605041 +BMGC_DS11698,BMG_DS040201,"Diabetes Mellitus, Congenital Autoimmune",UMLS ID:C1857958,,,,,"diabetes mellitus, congenital autoimmune",MONDO:0011507,,MeSH ID:C565730,,,,OMIM ID:605026 +BMGC_DS11699,BMG_DS040202,"Hypobetalipoproteinemia, Familial, 2",UMLS ID:C1857970,,,,,familial hypobetalipoproteinemia 2,MONDO:0011505,,MeSH ID:C565732,,,,OMIM ID:605019 +BMGC_DS11700,BMG_DS040203,MICROHYDRANENCEPHALY,UMLS ID:C1857977,,,,,NDE1-related microhydranencephaly,MONDO:0011504,,,,,,OMIM ID:605013 | OMIM ID:609449 +BMGC_DS11701,BMG_DS040204,WOLFRAM SYNDROME 2,UMLS ID:C1858028,,,,,Wolfram syndrome 2,MONDO:0011502,,,,,,OMIM ID:611507 | OMIM ID:604928 +BMGC_DS11702,BMG_DS040206,Becker Nevus Syndrome,UMLS ID:C1858042,,,,,Becker nevus syndrome,MONDO:0011500,,MeSH ID:C565735,,,,OMIM ID:604919 +BMGC_DS11703,BMG_DS040207,Okamoto syndrome,UMLS ID:C1858043,Okamoto syndrome (disorder) | Okamoto syndrome,SNOMEDCT ID:722065002,,,,,,,,,, +BMGC_DS11704,BMG_DS040208,,UMLS ID:C1858050,,,,,schizophrenia 9,MONDO:0011498,,,,,,OMIM ID:604906 +BMGC_DS11705,BMG_DS040209,NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS,UMLS ID:C1858051,,,,,hereditary North American Indian childhood cirrhosis,MONDO:0011497,,,,,,OMIM ID:604901 +BMGC_DS11706,BMG_DS040210,BARDET-BIEDL SYNDROME 6,UMLS ID:C1858054,,,,,Bardet-Biedl syndrome 6,MONDO:0011523,,,,,,OMIM ID:604896 | OMIM ID:605231 +BMGC_DS11707,BMG_DS040211,ASTHMA AND NASAL POLYPS,UMLS ID:C1858067,,,,,,,,,,,,OMIM ID:208550 | OMIM ID:604895 +BMGC_DS11708,BMG_DS040212,"Retinal Dystrophy, Early Onset Severe",UMLS ID:C1858080,,,,,,,,MeSH ID:C565741,,,, +BMGC_DS11709,BMG_DS040214,"Stickler syndrome, type 2",UMLS ID:C1858084,,,,,Stickler syndrome type 2,MONDO:0011493,,MeSH ID:C537493,,,,OMIM ID:604841 +BMGC_DS11710,BMG_DS040216,"Spastic paraplegia 12, autosomal dominant",UMLS ID:C1858106,,,,,hereditary spastic paraplegia 12,MONDO:0011489,,MeSH ID:C537484,,,,OMIM ID:604805 +BMGC_DS11711,BMG_DS040217,"Microcephaly, Primary Autosomal Recessive, 3",UMLS ID:C1858108,,,,,"microcephaly 3, primary, autosomal recessive",MONDO:0011488,,MeSH ID:C565746,,,,OMIM ID:604804 +BMGC_DS11712,BMG_DS040218,,UMLS ID:C1858114,,,,,Huntington disease-like 3,MONDO:0011487,,,,,,OMIM ID:604802 +BMGC_DS11713,BMG_DS040219,Caudate atrophy,UMLS ID:C1858116,,,,,,,,,,,,OMIM ID:MTHU004659 +BMGC_DS11714,BMG_DS040220,"Muscular Dystrophy, Congenital, 1B",UMLS ID:C1858118,,,,,congenital muscular dystrophy 1B,MONDO:0011486,,MeSH ID:C565748,,,,OMIM ID:604801 +BMGC_DS11715,BMG_DS040221,"Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",UMLS ID:C1858133,,,,,autosomal recessive congenital ichthyosis 5,MONDO:0011485,,MeSH ID:C565749,,,,OMIM ID:604777 +BMGC_DS11716,BMG_DS040223,"CARDIOMYOPATHY, DILATED, 1I",UMLS ID:C1858154,,,,,dilated cardiomyopathy 1I,MONDO:0011482,,,,,,OMIM ID:125660 | OMIM ID:604765 +BMGC_DS11717,BMG_DS040224,,UMLS ID:C1858160,,,,,craniosynostosis 2,MONDO:0011481,,,,,,OMIM ID:604757 +BMGC_DS11718,BMG_DS040225,"Deafness, Autosomal Dominant 20",UMLS ID:C1858172,,,,,autosomal dominant nonsyndromic hearing loss 20,MONDO:0011480,,MeSH ID:C565754,,,,OMIM ID:604717 +BMGC_DS11719,BMG_DS040229,"Bare Lymphocyte Syndrome, Type I",UMLS ID:C1858266,,,,,MHC class I deficiency,MONDO:0011476,,MeSH ID:C565759,,,, +BMGC_DS11720,BMG_DS040230,"Charcot-Marie-Tooth disease, Type 4B2",UMLS ID:C1858278,,,,,Charcot-Marie-Tooth disease type 4B2,MONDO:0011475,,MeSH ID:C535421,Charcot-Marie-Tooth disease type 4B2,DOID:0110190,,OMIM ID:604563 +BMGC_DS11721,BMG_DS040231,"Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",UMLS ID:C1858279,,,,,,,,MeSH ID:C535422,,,, +BMGC_DS11722,BMG_DS040233,LEBER CONGENITAL AMAUROSIS 5,UMLS ID:C1858301,,,,,Leber congenital amaurosis 5,MONDO:0011473,,,,,,OMIM ID:604537 | OMIM ID:611408 +BMGC_DS11723,BMG_DS040234,Ectodermal Dysplasia-Skin Fragility Syndrome,UMLS ID:C1858302,,,,,epidermolysis bullosa simplex due to plakophilin deficiency,MONDO:0011472,,MeSH ID:C536183,,,,OMIM ID:604536 +BMGC_DS11724,BMG_DS040235,INFLAMMATORY BOWEL DISEASE 3,UMLS ID:C1858303,,,,,inflammatory bowel disease 3,MONDO:0011471,,,,,,OMIM ID:604519 +BMGC_DS11725,BMG_DS040237,"Bile acid synthesis defect, congenital, 4",UMLS ID:C1858328,,,,,congenital bile acid synthesis defect 4,MONDO:0008967,,MeSH ID:C535444,congenital bile acid synthesis defect 4,DOID:0111068,,OMIM ID:214950 +BMGC_DS11726,BMG_DS040238,"Neuropathy, hereditary motor and sensory, Okinawa type",UMLS ID:C1858338,,,,,"hereditary motor and sensory neuropathy, Okinawa type",MONDO:0011468,,MeSH ID:C535717,,,,OMIM ID:604484 +BMGC_DS11727,BMG_DS040240,SPINOCEREBELLAR ATAXIA 11,UMLS ID:C1858351,,,,,spinocerebellar ataxia type 11,MONDO:0011464,,,spinocerebellar ataxia type 11,DOID:0050961,,OMIM ID:604432 | OMIM ID:611695 +BMGC_DS11728,BMG_DS040242,,UMLS ID:C1858361,,,,,pyogenic arthritis-pyoderma gangrenosum-acne syndrome,MONDO:0011462,,,,,,OMIM ID:604416 +BMGC_DS11729,BMG_DS040243,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 6",UMLS ID:C1858378,,,,,arrhythmogenic right ventricular dysplasia 6,MONDO:0011460,,MeSH ID:C565775,,,,OMIM ID:604401 +BMGC_DS11730,BMG_DS040244,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 5",UMLS ID:C1858379,,,,,arrhythmogenic right ventricular dysplasia 5,MONDO:0011459,,MeSH ID:C565776,,,,OMIM ID:604400 +BMGC_DS11731,BMG_DS040245,,UMLS ID:C1858380,,,,,"colorectal cancer, hereditary nonpolyposis, type 7",MONDO:0013725,,,,,,OMIM ID:614385 +BMGC_DS11732,BMG_DS040246,Leber Congenital Amaurosis 4,UMLS ID:C1858386,,,,,Leber congenital amaurosis 4,MONDO:0011458,,MeSH ID:C565778,Leber congenital amaurosis 4,DOID:0110332,,OMIM ID:604393 +BMGC_DS11733,BMG_DS040247,,UMLS ID:C1858391,,,,,ataxia-telangiectasia-like disorder,MONDO:0011457,,,,,, +BMGC_DS11734,BMG_DS040248,NEPHRONOPHTHISIS 3,UMLS ID:C1858392,,,,,nephronophthisis 3,MONDO:0011456,,,,,,OMIM ID:604387 | OMIM ID:608002 +BMGC_DS11735,BMG_DS040250,Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies,UMLS ID:C1858420,,,,,patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,MONDO:0011454,,MeSH ID:C565782,,,,OMIM ID:604381 +BMGC_DS11736,BMG_DS040252,"Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",UMLS ID:C1858424,,,,,,,,MeSH ID:C565784,,,, +BMGC_DS11737,BMG_DS040253,"Epilepsy, Partial, with Variable Foci",UMLS ID:C1858477,,,,,familial focal epilepsy with variable foci,MONDO:0020310,,MeSH ID:C565785,,,, +BMGC_DS11738,BMG_DS040255,"Spastic paraplegia 11, autosomal recessive",UMLS ID:C1858479,,,,,hereditary spastic paraplegia 11,MONDO:0011445,,MeSH ID:C537483,,,,OMIM ID:604360 +BMGC_DS11739,BMG_DS040256,,UMLS ID:C1858493,,,,,"febrile seizures, familial, 4",MONDO:0011443,,,,,,OMIM ID:604352 +BMGC_DS11740,BMG_DS040257,"Advanced Sleep-Phase Syndrome, Familial",UMLS ID:C1858496,,,,,advanced sleep phase syndrome,MONDO:0015609,,MeSH ID:C565789,,,, +BMGC_DS11741,BMG_DS040259,Spinocerebellar Ataxia 12,UMLS ID:C1858501,,,,,spinocerebellar ataxia type 12,MONDO:0011439,,MeSH ID:C565790,,,,OMIM ID:604326 +BMGC_DS11742,BMG_DS040260,"Acne, Adult",UMLS ID:C1858506,,,,,adult acne,MONDO:0100486,,MeSH ID:C565791,,,,OMIM ID:604324 +BMGC_DS11743,BMG_DS040261,"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C1858516,,,,,"microcephaly 4, primary, autosomal recessive",MONDO:0011437,,,primary autosomal recessive microcephaly 4,DOID:0070291,,OMIM ID:604321 | OMIM ID:609173 +BMGC_DS11744,BMG_DS040262,SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1,UMLS ID:C1858517,,,,,autosomal recessive distal spinal muscular atrophy 1,MONDO:0011436,,,,,,OMIM ID:604320 +BMGC_DS11745,BMG_DS040263,"MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS",UMLS ID:C1858535,,,,,"microcephaly 2, primary, autosomal recessive, with or without cortical malformations",MONDO:0011435,,,primary autosomal recessive microcephaly 2 with or without cortical malformations,DOID:0070293,,OMIM ID:604317 | OMIM ID:613583 +BMGC_DS11746,BMG_DS040266,Blepharophimosis with Facial and Genital Anomalies and Mental Retardation,UMLS ID:C1858538,,,,,"blepharophimosis - intellectual disability syndrome, Verloes type",MONDO:0011432,,MeSH ID:C565797,,,,OMIM ID:604314 +BMGC_DS11747,BMG_DS040267,OVERLAP CONNECTIVE TISSUE DISEASE,UMLS ID:C1858556,,,,,MASS syndrome,MONDO:0011431,,,,,,OMIM ID:604308 +BMGC_DS11748,BMG_DS040268,"Rheumatoid Arthritis, Systemic Juvenile",UMLS ID:C1858558,,,,,systemic-onset juvenile idiopathic arthritis,MONDO:0019434,,MeSH ID:C565798,,,, +BMGC_DS11749,BMG_DS040269,"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",UMLS ID:C1858562,,,,,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",MONDO:0011428,,,,,,OMIM ID:604292 | OMIM ID:603273 +BMGC_DS11750,BMG_DS040271,"Cardiomyopathy, Dilated, 1h",UMLS ID:C1858591,,,,,dilated cardiomyopathy 1H,MONDO:0011425,,MeSH ID:C536277,,,,OMIM ID:604288 +BMGC_DS11751,BMG_DS040272,Carney Triad,UMLS ID:C1858592,,,,,Carney triad,MONDO:0011424,,MeSH ID:C565803,,,,OMIM ID:604287 +BMGC_DS11752,BMG_DS040273,"Limb-girdle muscular dystrophy, type 2E",UMLS ID:C1858593,,,,,autosomal recessive limb-girdle muscular dystrophy type 2E,MONDO:0011423,,MeSH ID:C535902,,,,OMIM ID:604286 +BMGC_DS11753,BMG_DS040274,"Short Stature, Idiopathic, Autosomal",UMLS ID:C1858656,,,,,short stature due to partial GHR deficiency,MONDO:0011420,,MeSH ID:C565805,,,,OMIM ID:604271 +BMGC_DS11754,BMG_DS040277,"HEMOCHROMATOSIS, TYPE 3",UMLS ID:C1858664,,,,,hemochromatosis type 3,MONDO:0011417,,,hemochromatosis type 3,DOID:0111030,,OMIM ID:604250 | OMIM ID:604720 +BMGC_DS11755,BMG_DS040278,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",UMLS ID:C1858672,,,,,"generalized epilepsy with febrile seizures plus, type 1",MONDO:0011416,,,generalized epilepsy with febrile seizures plus 1,DOID:0111302,,OMIM ID:600235 | OMIM ID:604233 +BMGC_DS11756,BMG_DS040279,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",UMLS ID:C1858673,,,,,"generalized epilepsy with febrile seizures plus, type 2",MONDO:0011461,,,generalized epilepsy with febrile seizures plus 2,DOID:0111294,,OMIM ID:604403 | OMIM ID:182389 +BMGC_DS11757,BMG_DS040280,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",UMLS ID:C1858674,,,,,,,,,familial febrile seizures 8,DOID:0111298,,OMIM ID:137164 | OMIM ID:607681 +BMGC_DS11758,BMG_DS040281,Leber Congenital Amaurosis 3,UMLS ID:C1858677,,,,,Leber congenital amaurosis 3,MONDO:0011415,,MeSH ID:C565814,Leber congenital amaurosis 3,DOID:0110331,,OMIM ID:604232 +BMGC_DS11759,BMG_DS040282,"CATARACT, AUTOSOMAL DOMINANT",UMLS ID:C1858679,,,,,cataract 9 multiple types,MONDO:0011413,,,,,,OMIM ID:604219 +BMGC_DS11760,BMG_DS040283,Familial encephalopathy with neuroserpin inclusion bodies,UMLS ID:C1858680,Familial encephalopathy with neuroserpin inclusion bodies | Familial encephalopathy with neuroserpin inclusion bodies (disorder) | Familial dementia with neuroserpin inclusion bodies,SNOMEDCT ID:702421006,,,familial encephalopathy with neuroserpin inclusion bodies,MONDO:0011412,,MeSH ID:C536841,familial encephalopathy with neuroserpin inclusion bodies,DOID:0050831,,OMIM ID:604218 +BMGC_DS11761,BMG_DS040284,Chudley-Mccullough syndrome,UMLS ID:C1858695,,,,,Chudley-McCullough syndrome,MONDO:0011411,,MeSH ID:C535459,,,,OMIM ID:604213 +BMGC_DS11762,BMG_DS040287,"Spastic paraplegia 10, autosomal dominant",UMLS ID:C1858712,,,,,hereditary spastic paraplegia 10,MONDO:0011408,,MeSH ID:C537482,,,,OMIM ID:604187 +BMGC_DS11763,BMG_DS040288,"Facial paresis, hereditary, congenital",UMLS ID:C1858717,,,,,"facial paresis, hereditary congenital, 2",MONDO:0011407,,MeSH ID:C536386,,,,OMIM ID:604185 +BMGC_DS11764,BMG_DS040289,Poikiloderma with Neutropenia,UMLS ID:C1858723,,,,,poikiloderma with neutropenia,MONDO:0011405,,MeSH ID:C565820,poikiloderma with neutropenia,DOID:0060551,,OMIM ID:604173 +BMGC_DS11765,BMG_DS040291,,UMLS ID:C1858725,,,,,left ventricular noncompaction 1,MONDO:0011403,,,,,,OMIM ID:604169 +BMGC_DS11766,BMG_DS040292,"Congenital Cataracts, Facial Dysmorphism, And Neuropathy",UMLS ID:C1858726,,,,,congenital cataracts-facial dysmorphism-neuropathy syndrome,MONDO:0011402,,MeSH ID:C565822,,,,OMIM ID:604168 +BMGC_DS11767,BMG_DS040294,"Cardiomyopathy, Dilated, 1g",UMLS ID:C1858763,,,,,dilated cardiomyopathy 1G,MONDO:0011400,,MeSH ID:C565824,,,,OMIM ID:604145 +BMGC_DS11768,BMG_DS040295,"Cerebellar Ataxia, Deafness, and Narcolepsy",UMLS ID:C1858804,,,,,,,,MeSH ID:C565825,,,, +BMGC_DS11769,BMG_DS040296,"Vohwinkel Syndrome, Variant Form",UMLS ID:C1858805,,,,,loricrin keratoderma,MONDO:0011396,,MeSH ID:C565826,,,,OMIM ID:604117 +BMGC_DS11770,BMG_DS040297,Cone-Rod Dystrophy 3,UMLS ID:C1858806,,,,,cone-rod dystrophy 3,MONDO:0011395,,MeSH ID:C565827,cone-rod dystrophy 3,DOID:0111013,,OMIM ID:604116 +BMGC_DS11771,BMG_DS040298,"DEAFNESS, AUTOSOMAL RECESSIVE 20",UMLS ID:C1858840,,,,,autosomal recessive nonsyndromic hearing loss 20,MONDO:0011392,,,,,,OMIM ID:604060 +BMGC_DS11772,BMG_DS040299,,UMLS ID:C1858854,,,,,megalencephalic leukoencephalopathy with subcortical cysts,MONDO:0011391,,,megalencephalic leukoencephalopathy with subcortical cysts 1 | megalencephalic leukoencephalopathy with subcortical cysts,DOID:0080315;DOID:0080316,, +BMGC_DS11773,BMG_DS040300,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2,UMLS ID:C1858915,,,,,focal segmental glomerulosclerosis 2,MONDO:0011390,,,,,,OMIM ID:603652 | OMIM ID:603965 +BMGC_DS11774,BMG_DS040301,"DEAFNESS, AUTOSOMAL DOMINANT 16",UMLS ID:C1858916,,,,,autosomal dominant nonsyndromic hearing loss 16,MONDO:0011389,,,,,,OMIM ID:603964 +BMGC_DS11775,BMG_DS040304,"Autoimmune Lymphoproliferative Syndrome, Type IIA",UMLS ID:C1858968,,,,,autoimmune lymphoproliferative syndrome type 2A,MONDO:0011383,,MeSH ID:C565833,autoimmune lymphoproliferative syndrome type 2A,DOID:0110115,,OMIM ID:603909 +BMGC_DS11776,BMG_DS040305,"Beta Thalassemia, Dominant Inclusion Body Type",UMLS ID:C1858990,,,,,dominant beta-thalassemia,MONDO:0011381,,MeSH ID:C565834,,,,OMIM ID:603902 +BMGC_DS11777,BMG_DS040306,Childhood Ataxia with Central Nervous System Hypomyelinization,UMLS ID:C1858991,,,,,leukoencephalopathy with vanishing white matter,MONDO:0800448,Leukoencephalopathies,MeSH ID:D056784,,,, +BMGC_DS11778,BMG_DS040307,CCHS WITH HIRSCHSPRUNG DISEASE,UMLS ID:C1859049,,,,,Haddad syndrome,MONDO:0020493,,,,,,OMIM ID:209880 | OMIM ID:603851 +BMGC_DS11779,BMG_DS040308,LONG QT SYNDROME 3,UMLS ID:C1859062,,,,,long QT syndrome 3,MONDO:0011377,,,,,,OMIM ID:600163 | OMIM ID:603830 +BMGC_DS11780,BMG_DS040310,"Cleidocranial Dysplasia, Recessive Form",UMLS ID:C1859080,,,,,"cleidocranial dysplasia, recessive form",MONDO:0008994,,MeSH ID:C565843,,,,OMIM ID:216330 +BMGC_DS11781,BMG_DS040311,"Cleft Palate, Deafness, and Oligodontia",UMLS ID:C1859081,,,,,cleft palate-stapes fixation-oligodontia syndrome,MONDO:0008993,,MeSH ID:C565844,,,,OMIM ID:216300 +BMGC_DS11782,BMG_DS040312,Verloove-Vanhorick Brubakk syndrome,UMLS ID:C1859082,,,,,Verloove Vanhorick-Brubakk syndrome,MONDO:0008991,,MeSH ID:C536541,,,,OMIM ID:215850 +BMGC_DS11783,BMG_DS040313,Novak syndrome,UMLS ID:C1859083,,,,,"cleft larynx, posterior",MONDO:0008990,,MeSH ID:C537851,,,,OMIM ID:215800 +BMGC_DS11784,BMG_DS040314,Citrulline transport defect,UMLS ID:C1859084,,,,,citrulline transport defect,MONDO:0008989,,MeSH ID:C536207,,,,OMIM ID:215720 +BMGC_DS11785,BMG_DS040315,"COPPER TOXICOSIS, IDIOPATHIC",UMLS ID:C1859088,,,,,,,,,,,,OMIM ID:215600 +BMGC_DS11786,BMG_DS040316,Circumvallate Placenta Syndrome,UMLS ID:C1859089,,,,,circumvallate placenta syndrome,MONDO:0008986,,MeSH ID:C565847,,,,OMIM ID:215550 +BMGC_DS11787,BMG_DS040318,Choroid plexus calcification with mental retardation,UMLS ID:C1859092,,,,,infantile choroidocerebral calcification syndrome,MONDO:0008981,,MeSH ID:C535357,,,,OMIM ID:215480 +BMGC_DS11788,BMG_DS040319,"Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",UMLS ID:C1859093,,,,,ataxia-hypogonadism-choroidal dystrophy syndrome,MONDO:0008980,,MeSH ID:C565850,Boucher-Neuhauser syndrome,DOID:0111265,,OMIM ID:215470 +BMGC_DS11789,BMG_DS040320,"Chorea, Benign Familial",UMLS ID:C1859098,,,,,"chorea, benign familial",MONDO:0008979,,MeSH ID:C565851,,,,OMIM ID:215450 +BMGC_DS11790,BMG_DS040322,"Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome",UMLS ID:C1859104,,,,,"chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome",MONDO:0008976,,MeSH ID:C565852,,,,OMIM ID:215250 +BMGC_DS11791,BMG_DS040324,"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",UMLS ID:C1859133,,,,,rhizomelic chondrodysplasia punctata type 1,MONDO:0008972,,,,,,OMIM ID:215100 | OMIM ID:601757 +BMGC_DS11792,BMG_DS040325,Chondrodysplasia Calcificans Metaphysealis,UMLS ID:C1859147,,,,,chondrodysplasia calcificans Metaphysealis,MONDO:0008971,,MeSH ID:C565855,,,,OMIM ID:215050 +BMGC_DS11793,BMG_DS040326,"Chondrodysplasia, blomstrand type",UMLS ID:C1859148,,,,,chondrodysplasia Blomstrand type,MONDO:0008970,,MeSH ID:C537914,chondrodysplasia Blomstrand type,DOID:0060387,,OMIM ID:215045 +BMGC_DS11794,BMG_DS040329,"GRISCELLI SYNDROME, TYPE 1",UMLS ID:C1859194,,,,,Griscelli syndrome type 1,MONDO:0008962,,,Griscelli syndrome type 1,DOID:0060832,,OMIM ID:214450 | OMIM ID:160777 +BMGC_DS11795,BMG_DS040330,"Charcot-Marie-Tooth disease, Type 4A",UMLS ID:C1859198,,,,,Charcot-Marie-Tooth disease type 4A,MONDO:0008961,,MeSH ID:C535419,Charcot-Marie-Tooth disease type 4A,DOID:0110185,,OMIM ID:214400 +BMGC_DS11796,BMG_DS040331,Klippel Feil syndrome recessive type,UMLS ID:C1859209,,,,,"Klippel-Feil syndrome 2, autosomal recessive",MONDO:0008958,,MeSH ID:C536888,,,,OMIM ID:214300 +BMGC_DS11797,BMG_DS040333,Cerebrofaciothoracic Dysplasia,UMLS ID:C1859252,,,,,,,,MeSH ID:C565862,,,, +BMGC_DS11798,BMG_DS040335,Pelizaeus-Merzbacher like brain sclerosis,UMLS ID:C1859258,,,,,cerebral sclerosis similar to Pelizaeus-Merzbacher disease,MONDO:0008950,,MeSH ID:C536318,,,,OMIM ID:213900 +BMGC_DS11799,BMG_DS040337,"Cerebral Angiopathy, Dysphoric",UMLS ID:C1859283,,,,,"cerebral angiopathy, dysphoric",MONDO:0008946,,MeSH ID:C565864,,,,OMIM ID:213500 +BMGC_DS11800,BMG_DS040338,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2",UMLS ID:C1859298,,,,,autosomal recessive spinocerebellar ataxia 2,MONDO:0008943,,,autosomal recessive spinocerebellar ataxia 2,DOID:0080061,,OMIM ID:613036 | OMIM ID:213200 +BMGC_DS11801,BMG_DS040339,Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome,UMLS ID:C1859300,,,,,hepatic fibrosis-renal cysts-intellectual disability syndrome,MONDO:0008941,,MeSH ID:C565867,,,,OMIM ID:213010 +BMGC_DS11802,BMG_DS040340,"Cerebellar Ataxia, Benign, with Thermoanalgesia",UMLS ID:C1859303,,,,,"cerebellar ataxia, benign, with thermoanalgesia",MONDO:0008937,,MeSH ID:C565868,,,,OMIM ID:212890 +BMGC_DS11803,BMG_DS040341,Cerebellar Ataxia and Neurosensory Deafness,UMLS ID:C1859304,,,,,cerebellar ataxia and neurosensory deafness,MONDO:0008936,,MeSH ID:C565869,,,,OMIM ID:212850 +BMGC_DS11804,BMG_DS040342,Cerebellar Ataxia and Hypogonadotropic Hypogonadism,UMLS ID:C1859305,,,,,cerebellar ataxia-hypogonadism syndrome,MONDO:0008935,,MeSH ID:C565870,Gordon Holmes syndrome,DOID:0111587,,OMIM ID:212840 +BMGC_DS11805,BMG_DS040344,Cephalin Lipidosis,UMLS ID:C1859307,,,,,cephalin lipidosis,MONDO:0008933,,MeSH ID:C565872,,,,OMIM ID:212800 +BMGC_DS11806,BMG_DS040345,PREMATURE CENTROMERE DIVISION,UMLS ID:C1859308,,,,,premature centromere division,MONDO:0008932,,,,,,OMIM ID:212790 +BMGC_DS11807,BMG_DS040346,Syndactyly Cenani Lenz type,UMLS ID:C1859309,,,,,Cenani-Lenz syndactyly syndrome,MONDO:0008931,,MeSH ID:C538150,,,,OMIM ID:212780 +BMGC_DS11808,BMG_DS040347,,UMLS ID:C1859310,,,,,"celiac disease, susceptibility to, 1",MONDO:0008930,,,,,,OMIM ID:212750 +BMGC_DS11809,BMG_DS040348,"Microphthalmia, Isolated, with Cataract 2",UMLS ID:C1859311,,,,,,,,MeSH ID:C565876,,,, +BMGC_DS11810,BMG_DS040350,Cataract and congenital ichthyosis,UMLS ID:C1859315,,,,,congenital cataract-ichthyosis syndrome,MONDO:0008924,,MeSH ID:C538281,,,,OMIM ID:212400 +BMGC_DS11811,BMG_DS040351,CATARACT-ALOPECIA-SCLERODACTYLY SYNDROME,UMLS ID:C1859316,,,,,autosomal recessive palmoplantar keratoderma and congenital alopecia,MONDO:0008923,,,palmoplantar keratoderma and congenital alopecia 2,DOID:0111245,,OMIM ID:212360 +BMGC_DS11812,BMG_DS040352,Cataract and cardiomyopathy,UMLS ID:C1859317,,,,,Sengers syndrome,MONDO:0008922,,MeSH ID:C538280,Sengers syndrome,DOID:0080132,,OMIM ID:212350 +BMGC_DS11813,BMG_DS040353,Myopathic carnitine deficiency,UMLS ID:C1859318,,,,,"carnitine deficiency, myopathic",MONDO:0008920,,MeSH ID:C536100,,,,OMIM ID:212160 +BMGC_DS11814,BMG_DS040355,Cardiomyopathy Associated With Myopathy And Sudden Death,UMLS ID:C1859328,,,,,cardiomyopathy associated with myopathy and sudden death,MONDO:0008916,,MeSH ID:C565881,,,,OMIM ID:212130 +BMGC_DS11815,BMG_DS040356,Cardioauditory syndrome of Sanchez Cascos,UMLS ID:C1859329,,,,,cardioauditory syndrome of Sanchez Cascos,MONDO:0008914,,MeSH ID:C535577,,,,OMIM ID:212100 +BMGC_DS11816,BMG_DS040358,Cardiac Septal Defects with Coarctation of the Aorta,UMLS ID:C1859331,,,,,cardiac septal defects with coarctation of the aorta,MONDO:0008912,,MeSH ID:C565883,,,,OMIM ID:212090 +BMGC_DS11817,BMG_DS040359,"Cardiac Lipidosis, Familial",UMLS ID:C1859332,,,,,"cardiac lipidosis, familial",MONDO:0008911,,MeSH ID:C565884,,,,OMIM ID:212080 +BMGC_DS11818,BMG_DS040360,"Candidiasis, Familial, 2",UMLS ID:C1859353,,,,,predisposition to invasive fungal disease due to CARD9 deficiency,MONDO:0008905,,MeSH ID:C537979,,,,OMIM ID:212050 +BMGC_DS11819,BMG_DS040361,Camptomelic syndrome long limb type,UMLS ID:C1859354,,,,,"camptomelic syndrome, long-limb type",MONDO:0008904,,MeSH ID:C537977,,,,OMIM ID:211990 +BMGC_DS11820,BMG_DS040363,Tel Hashomer camptodactyly syndrome,UMLS ID:C1859356,Tel Hashomer camptodactyly syndrome (disorder) | Tel Hashomer camptodactyly syndrome,SNOMEDCT ID:719946008,,,Tel Hashomer camptodactyly syndrome,MONDO:0008901,,MeSH ID:C536953,,,,OMIM ID:211960 +BMGC_DS11821,BMG_DS040365,Campomelia Cumming type,UMLS ID:C1859371,Campomelia Cumming type (disorder) | Campomelia Cumming type | Cumming syndrome,SNOMEDCT ID:720599002,,,"campomelia, Cumming type",MONDO:0008896,,MeSH ID:C537966,,,,OMIM ID:211890 +BMGC_DS11822,BMG_DS040366,Calcification of Joints and Arteries,UMLS ID:C1859372,,,,,hereditary arterial and articular multiple calcification syndrome,MONDO:0008895,,MeSH ID:C565891,,,,OMIM ID:211800 +BMGC_DS11823,BMG_DS040368,"Brachydactyly, Type A2, With Microcephaly",UMLS ID:C1859393,,,,,"brachydactyly, type A2, with microcephaly",MONDO:0008883,,MeSH ID:C565894,,,,OMIM ID:211369 +BMGC_DS11824,BMG_DS040371,Bowen-Conradi syndrome,UMLS ID:C1859405,Bowen-Conradi syndrome (disorder) | Bowen-Conradi syndrome | Hutterite syndrome | Bowen Hutterite syndrome | Bowen-Conradi Hutterite syndrome,SNOMEDCT ID:711153001,,,Bowen-Conradi syndrome,MONDO:0008879,,MeSH ID:C537081,Bowen-Conradi syndrome,DOID:0050684,,OMIM ID:211180 +BMGC_DS11825,BMG_DS040373,"Blepharophimosis with ptosis, syndactyly, and short stature",UMLS ID:C1859432,,,,,blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,MONDO:0008875,,MeSH ID:C536235,,,,OMIM ID:210745 +BMGC_DS11826,BMG_DS040375,"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I",UMLS ID:C1859452,,,,,microcephalic osteodysplastic primordial dwarfism type I,MONDO:0008871,,,,,,OMIM ID:210710 | OMIM ID:601428 +BMGC_DS11827,BMG_DS040376,Bird headed dwarfism Montreal type,UMLS ID:C1859468,,,,,"bird headed-dwarfism, Montreal type",MONDO:0008870,,MeSH ID:C535448,,,,OMIM ID:210700 +BMGC_DS11828,BMG_DS040377,BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY,UMLS ID:C1859486,,,,,Bietti crystalline corneoretinal dystrophy,MONDO:0008865,,,Bietti crystalline corneoretinal dystrophy,DOID:0050664,,OMIM ID:210370 | OMIM ID:608614 +BMGC_DS11829,BMG_DS040378,Biemond syndrome II,UMLS ID:C1859487,,,,,Biemond syndrome type 2,MONDO:0008864,,MeSH ID:C565902,,,,OMIM ID:210350 +BMGC_DS11830,BMG_DS040379,3-methylcrotonyl CoA carboxylase 2 deficiency,UMLS ID:C1859499,,,,,3-methylcrotonyl-CoA carboxylase 2 deficiency,MONDO:0008862,,MeSH ID:C535309,3-methylcrotonyl-CoA carboxylase 2 deficiency,DOID:0080580,,OMIM ID:210210 +BMGC_DS11831,BMG_DS040380,"Beta-Aminoisobutyric Acid, Urinary Excretion of",UMLS ID:C1859518,,,,,"beta-aminoisobutyric acid, urinary excretion of",MONDO:0008860,,MeSH ID:C565904,,,,OMIM ID:210100 +BMGC_DS11832,BMG_DS040381,"Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification",UMLS ID:C1859519,,,,,"berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification",MONDO:0008859,,MeSH ID:C565905,,,,OMIM ID:210050 +BMGC_DS11833,BMG_DS040382,Beemer Ertbruggen syndrome,UMLS ID:C1859526,"Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) | Hydrocephalus, cardiac malformation, dense bone syndrome | Beemer Ertbruggen syndrome | Beemer lethal malformation syndrome",SNOMEDCT ID:717859007,,,Beemer-Ertbruggen syndrome,MONDO:0008857,,MeSH ID:C537668,,,,OMIM ID:209970 +BMGC_DS11834,BMG_DS040387,"Bare Lymphocyte Syndrome, Type II, Complementation Group B",UMLS ID:C1859535,,,,,MHC class II deficiency 2,MONDO:0971013,,MeSH ID:C565910,,,,OMIM ID:620815 +BMGC_DS11835,BMG_DS040388,"Bare Lymphocyte Syndrome, Type II, Complementation Group C",UMLS ID:C1859536,,,,,MHC class II deficiency 3,MONDO:0971014,,MeSH ID:C565910,,,,OMIM ID:620816 +BMGC_DS11836,BMG_DS040389,"Bare Lymphocyte Syndrome, Type II, Complementation Group D",UMLS ID:C1859537,,,,,MHC class II deficiency 4,MONDO:0971015,,MeSH ID:C565910,,,,OMIM ID:620817 +BMGC_DS11837,BMG_DS040390,"Bare Lymphocyte Syndrome, Type II, Complementation Group E",UMLS ID:C1859538,,,,,MHC class II deficiency 5,MONDO:0971016,,MeSH ID:C565910,,,,OMIM ID:620818 +BMGC_DS11838,BMG_DS040391,Bardet-Biedl syndrome 3,UMLS ID:C1859564,,,,,Bardet-Biedl syndrome 3,MONDO:0010832,,MeSH ID:C537911,Bardet-Biedl syndrome 3,DOID:0110125,,OMIM ID:600151 +BMGC_DS11839,BMG_DS040392,BARDET-BIEDL SYNDROME 7,UMLS ID:C1859565,,,,,Bardet-Biedl syndrome 7,MONDO:0014435,,,,,,OMIM ID:615984 | OMIM ID:607590 +BMGC_DS11840,BMG_DS040393,BARDET-BIEDL SYNDROME 8,UMLS ID:C1859566,,,,,Bardet-Biedl syndrome 8,MONDO:0014436,,,,,,OMIM ID:608132 | OMIM ID:615985 +BMGC_DS11841,BMG_DS040394,BARDET-BIEDL SYNDROME 9,UMLS ID:C1859567,,,,,Bardet-Biedl syndrome 9,MONDO:0014437,,,,,,OMIM ID:607968 | OMIM ID:615986 +BMGC_DS11842,BMG_DS040395,BARDET-BIEDL SYNDROME 10,UMLS ID:C1859568,,,,,Bardet-Biedl syndrome 10,MONDO:0014438,,,,,,OMIM ID:610148 | OMIM ID:615987 +BMGC_DS11843,BMG_DS040396,BARDET-BIEDL SYNDROME 11,UMLS ID:C1859569,,,,,Bardet-Biedl syndrome 11,MONDO:0014439,,,,,,OMIM ID:602290 | OMIM ID:615988 +BMGC_DS11844,BMG_DS040397,BARDET-BIEDL SYNDROME 12,UMLS ID:C1859570,,,,,Bardet-Biedl syndrome 12,MONDO:0014440,,,,,,OMIM ID:615989 | OMIM ID:610683 +BMGC_DS11845,BMG_DS040398,"Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation",UMLS ID:C1859591,,,,,Cooper-Jabs syndrome,MONDO:0008850,,MeSH ID:C565923,,,,OMIM ID:209770 +BMGC_DS11846,BMG_DS040399,ATRICHIA WITH PAPULAR LESIONS,UMLS ID:C1859592,,,,,atrichia with papular lesions,MONDO:0008847,,,,,,OMIM ID:209500 | OMIM ID:602302 +BMGC_DS11847,BMG_DS040400,Atonic-Astatic Syndrome of Foerster,UMLS ID:C1859594,,,,,atonic-astatic syndrome of Foerster,MONDO:0008845,,MeSH ID:C565926,,,,OMIM ID:209100 +BMGC_DS11848,BMG_DS040401,"Athrombia, Essential",UMLS ID:C1859595,,,,,"Athrombia, essential",MONDO:0008844,,MeSH ID:C565927,,,,OMIM ID:209050 +BMGC_DS11849,BMG_DS040402,"Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease",UMLS ID:C1859596,,,,,atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,MONDO:0008843,,MeSH ID:C565928,,,,OMIM ID:209010 +BMGC_DS11850,BMG_DS040403,"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",UMLS ID:C1859598,,,,,"ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia",MONDO:0008842,,,ataxia with oculomotor apraxia type 1,DOID:0050754,,OMIM ID:208920 | OMIM ID:606350 +BMGC_DS11851,BMG_DS040405,"Ataxia, Deafness, and Cardiomyopathy",UMLS ID:C1859645,,,,,"ataxia, deafness, and cardiomyopathy",MONDO:0008837,,MeSH ID:C565932,,,,OMIM ID:208750 +BMGC_DS11852,BMG_DS040406,Ataxia with Myoclonic Epilepsy and Presenile Dementia,UMLS ID:C1859646,,,,,ataxia with myoclonic epilepsy and presenile dementia,MONDO:0008836,,MeSH ID:C565933,,,,OMIM ID:208700 +BMGC_DS11853,BMG_DS040407,"Asthma, Short Stature, and Elevated IgA",UMLS ID:C1859647,,,,,"asthma, short stature, and elevated IgA",MONDO:0008835,,MeSH ID:C565934,,,,OMIM ID:208600 +BMGC_DS11854,BMG_DS040408,"Asthma, Nasal Polyps, And Aspirin Intolerance",UMLS ID:C1859648,,,,,"asthma, nasal polyps, and aspirin intolerance",MONDO:0008834,,MeSH ID:C565935,"asthma, nasal polyps, and aspirin intolerance",DOID:0111579,,OMIM ID:208550 +BMGC_DS11855,BMG_DS040409,CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME,UMLS ID:C1859690,,,,,camptodactyly-arthropathy-coxa vara-pericarditis syndrome,MONDO:0008828,,,camptodactyly-arthropathy-coxa vara-pericarditis syndrome,DOID:0090127,,OMIM ID:208250 | OMIM ID:604283 +BMGC_DS11856,BMG_DS040411,Kuskokwim disease,UMLS ID:C1859709,,,,,arthrogryposis-like syndrome,MONDO:0015241,,MeSH ID:C538124,,,,OMIM ID:208200 +BMGC_DS11857,BMG_DS040412,Johnston Aarons Schelley syndrome,UMLS ID:C1859710,Arthrogryposis hyperkeratosis syndrome lethal form (disorder) | Arthrogryposis hyperkeratosis syndrome lethal form | Johnston Aarons Schelley syndrome,SNOMEDCT ID:726620005,,,"arthrogryposis-hyperkeratosis syndrome, lethal form",MONDO:0008826,,MeSH ID:C535883,,,,OMIM ID:208158 +BMGC_DS11858,BMG_DS040413,Arthrogryposis multiplex congenita whistling face,UMLS ID:C1859711,,,,,arthrogryposis multiplex congenita-whistling face syndrome,MONDO:0008825,,MeSH ID:C538401,,,,OMIM ID:208155 +BMGC_DS11859,BMG_DS040414,Arthrogryposis multiplex congenita neurogenic type,UMLS ID:C1859721,,,,,,,,MeSH ID:C536614,neurogenic-type arthrogryposis multiplex congenita-2,DOID:0090124,, +BMGC_DS11860,BMG_DS040415,"Arthrogryposis, renal dysfunction, and cholestasis 1",UMLS ID:C1859722,,,,,"arthrogryposis, renal dysfunction, and cholestasis 1",MONDO:0008822,,MeSH ID:C535382,,,,OMIM ID:208085 +BMGC_DS11861,BMG_DS040418,"Arteriosclerosis, Severe Juvenile",UMLS ID:C1859725,,,,,"arteriosclerosis, severe juvenile",MONDO:0008819,,MeSH ID:C565941,,,,OMIM ID:208060 +BMGC_DS11862,BMG_DS040419,ARTERIAL TORTUOSITY SYNDROME,UMLS ID:C1859726,,,,,arterial tortuosity syndrome,MONDO:0008818,,,,,,OMIM ID:208050 | OMIM ID:606145 +BMGC_DS11863,BMG_DS040420,Arterial calcification of infancy,UMLS ID:C1859727,,,,,arterial calcification of infancy,MONDO:0018870,,MeSH ID:C537440,arterial calcification of infancy,DOID:0050644,, +BMGC_DS11864,BMG_DS040421,"Coronary Sclerosis, Medial, of Infancy",UMLS ID:C1859728,,,,,,,,MeSH ID:C565944,,,, +BMGC_DS11865,BMG_DS040422,"Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy",UMLS ID:C1859752,,,,,polyneuropathy-hand defect syndrome,MONDO:0008809,,MeSH ID:C565945,,,,OMIM ID:207740 +BMGC_DS11866,BMG_DS040423,Aplasia cutis congenita intestinal lymphangiectasia,UMLS ID:C1859753,,,,,aplasia cutis congenita-intestinal lymphangiectasia syndrome,MONDO:0008808,,MeSH ID:C537788,,,,OMIM ID:207731 +BMGC_DS11867,BMG_DS040425,"Antithrombin, Familial Hemorrhagic Diathesis due to",UMLS ID:C1859761,,,,,"antithrombin, familial hemorrhagic diathesis due to",MONDO:0008802,,MeSH ID:C565947,,,,OMIM ID:207300 +BMGC_DS11868,BMG_DS040426,,UMLS ID:C1859762,,,,,anosmia for isobutyric acid,MONDO:0008801,,,,,,OMIM ID:207000 +BMGC_DS11869,BMG_DS040428,"Microphthalmia, Syndromic 3",UMLS ID:C1859773,,,,,anophthalmia/microphthalmia-esophageal atresia syndrome,MONDO:0008799,,MeSH ID:C565948,syndromic microphthalmia 3,DOID:0111801,,OMIM ID:206900 +BMGC_DS11870,BMG_DS040429,Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System,UMLS ID:C1859774,,,,,,,,MeSH ID:C565949,,,, +BMGC_DS11871,BMG_DS040430,Aniridia renal agenesis psychomotor retardation,UMLS ID:C1859782,,,,,aniridia-renal agenesis-psychomotor retardation syndrome,MONDO:0008796,,MeSH ID:C000632444,,,,OMIM ID:206750 +BMGC_DS11872,BMG_DS040431,"Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert",UMLS ID:C1859783,,,,,"angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert",MONDO:0008793,,MeSH ID:C536367,,,,OMIM ID:206570 +BMGC_DS11873,BMG_DS040432,"Angiolipomatosis, Familial",UMLS ID:C1859784,,,,,familial angiolipomatosis,MONDO:0008792,,MeSH ID:C565951,,,,OMIM ID:206550 +BMGC_DS11874,BMG_DS040433,"Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism",UMLS ID:C1859785,,,,,"anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",MONDO:0008790,,MeSH ID:C565952,,,,OMIM ID:206400 +BMGC_DS11875,BMG_DS040434,"Anemia, Nonspherocytic Hemolytic, associated with Abnormality of Red Cell Membrane",UMLS ID:C1859786,,,,,"anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",MONDO:0008789,,MeSH ID:C565953,,,,OMIM ID:206300 +BMGC_DS11876,BMG_DS040436,Amyotrophic Lateral Sclerosis With Polyglucosan Bodies,UMLS ID:C1859805,,,,,amyotrophic lateral sclerosis with polyglucosan bodies,MONDO:0008782,,MeSH ID:C565955,,,,OMIM ID:205250 +BMGC_DS11877,BMG_DS040437,"Amyotrophic Lateral Sclerosis, Juvenile, with Dementia",UMLS ID:C1859806,,,,,juvenile amyotrophic lateral sclerosis with dementia,MONDO:0008781,,MeSH ID:C565956,,,,OMIM ID:205200 +BMGC_DS11878,BMG_DS040438,"Amyotrophic Lateral Sclerosis 2, Juvenile",UMLS ID:C1859807,,,,,"amyotrophic lateral sclerosis type 2, juvenile",MONDO:0008780,,MeSH ID:C565957,,,,OMIM ID:205100 +BMGC_DS11879,BMG_DS040439,"Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation",UMLS ID:C1859815,,,,,"amyloidosis of gingiva and conjunctiva, with intellectual disability",MONDO:0008776,,MeSH ID:C565958,,,,OMIM ID:204850 +BMGC_DS11880,BMG_DS040440,"Amobarbital, Deficient N-Hydroxylation of",UMLS ID:C1859816,,,,,"Amobarbital, deficient N-hydroxylation of",MONDO:0008775,,MeSH ID:C565959,,,,OMIM ID:204800 +BMGC_DS11881,BMG_DS040441,2-aminoadipic 2-oxoadipic aciduria,UMLS ID:C1859817,2-aminoadipic 2-oxoadipic aciduria (disorder) | Alpha-aminoadipic aciduria | 2-aminoadipic 2-oxoadipic aciduria,SNOMEDCT ID:782918002,,,2-aminoadipic 2-oxoadipic aciduria,MONDO:0008774,,,,,,OMIM ID:204750 | OMIM ID:245130 +BMGC_DS11882,BMG_DS040442,"Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis",UMLS ID:C1859818,,,,,"amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis",MONDO:0008773,,MeSH ID:C565960,,,,OMIM ID:204730 +BMGC_DS11883,BMG_DS040443,"Amaurosis congenita of Leber, type 2",UMLS ID:C1859844,,,,,Leber congenital amaurosis 2,MONDO:0008765,,MeSH ID:C536601,,,,OMIM ID:204100 +BMGC_DS11884,BMG_DS040444,Alpha-2-Deficient Collagen Disease,UMLS ID:C1859850,,,,,obsolete alpha-2-deficient collagen disease,MONDO:0008761,,MeSH ID:C565963,,,,OMIM ID:203760 +BMGC_DS11885,BMG_DS040445,,UMLS ID:C1859877,,,,,alopecia universalis congenita,MONDO:0008757,,,,,,OMIM ID:203655 +BMGC_DS11886,BMG_DS040446,Alopecia-Mental Retardation Syndrome 1,UMLS ID:C1859878,,,,,alopecia-intellectual disability syndrome 1,MONDO:0021035,,MeSH ID:C565965,,,,OMIM ID:203650 +BMGC_DS11887,BMG_DS040447,Microcephaly albinism digital anomalies syndrome,UMLS ID:C1859910,,,,,microcephaly-albinism-digital anomalies syndrome,MONDO:0008750,,MeSH ID:C537322,,,,OMIM ID:203340 +BMGC_DS11888,BMG_DS040448,Coloboma of Alar-nasal cartilages with telecanthus,UMLS ID:C1859964,,,,,alar cartilages hypoplasia-coloboma-telecanthus syndrome,MONDO:0008744,,MeSH ID:C535967,,,,OMIM ID:203000 +BMGC_DS11889,BMG_DS040450,"Neutropenia, Severe Congenital, Autosomal Dominant 1",UMLS ID:C1859966,,,,,"neutropenia, severe congenital, 1, autosomal dominant",MONDO:0042490,,MeSH ID:C565969,,,,OMIM ID:202700 +BMGC_DS11890,BMG_DS040452,,UMLS ID:C1859969,,,,,agenesis of cerebral white matter,MONDO:0008739,,,,,,OMIM ID:202600 +BMGC_DS11891,BMG_DS040453,"Hypodysfibrinogenemia, Congenital",UMLS ID:C1859970,,,,,familial hypodysfibrinogenemia,MONDO:0016638,,MeSH ID:C565970,,,, +BMGC_DS11892,BMG_DS040454,Adrenocortical Unresponsiveness To Acth With Postreceptor Defect,UMLS ID:C1859971,,,,,adrenocortical unresponsiveness to ACTH with postreceptor defect,MONDO:0008735,,MeSH ID:C565971,,,,OMIM ID:202355 +BMGC_DS11893,BMG_DS040455,,UMLS ID:C1859972,,,,,"adrenocortical carcinoma, hereditary",MONDO:0008734,,,,,,OMIM ID:202300 +BMGC_DS11894,BMG_DS040456,"Adrenal Hypoplasia, Cytomegalic Type",UMLS ID:C1859977,,,,,"adrenal hypoplasia, cytomegalic type",MONDO:0008732,,MeSH ID:C564543,,,,OMIM ID:202155 +BMGC_DS11895,BMG_DS040457,"Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone",UMLS ID:C1859978,,,,,familial adrenal hypoplasia with absent pituitary luteinizing hormone,MONDO:0008731,,MeSH ID:C565976,,,,OMIM ID:202150 +BMGC_DS11896,BMG_DS040458,"Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",UMLS ID:C1859995,,,,,,,,MeSH ID:C565977,,,, +BMGC_DS11897,BMG_DS040459,Antley-Bixler Syndrome with Disordered Steroidogenesis,UMLS ID:C1860042,,,,,congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,MONDO:0013310,Antley-Bixler Syndrome Phenotype,MeSH ID:D054882,,,,OMIM ID:613571 +BMGC_DS11898,BMG_DS040460,Severe short-limb dwarfism,UMLS ID:C1860105,,,,,,,,,,,,OMIM ID:MTHU014753 +BMGC_DS11899,BMG_DS040461,Acrofrontofacionasal dysostosis syndrome,UMLS ID:C1860118,,,,,acrofrontofacionasal dysostosis,MONDO:0008715,,MeSH ID:C538186,acrofrontofacionasal dysostosis,DOID:0060226,, +BMGC_DS11900,BMG_DS040462,Acrofacial dysostosis Rodriguez type,UMLS ID:C1860119,Acrofacial dysostosis Rodriguez type (disorder) | Acrofacial dysostosis Rodriguez type,SNOMEDCT ID:720430002,,,acrofacial dysostosis Rodriguez type,MONDO:0008714,,MeSH ID:C538183,acrofacial dysostosis Rodriguez type,DOID:0060383,,OMIM ID:201170 +BMGC_DS11901,BMG_DS040464,Elejalde Disease,UMLS ID:C1860157,,,,,neuroectodermal melanolysosomal disease,MONDO:0009742,,MeSH ID:C536203,,,,OMIM ID:256710 +BMGC_DS11902,BMG_DS040465,Acrorenal mandibular syndrome,UMLS ID:C1860166,Acrorenal mandibular syndrome (disorder) | Acrorenal mandibular syndrome | Split hand and split foot with mandibular hypoplasia syndrome | Acro-renal-mandibular syndrome,SNOMEDCT ID:720414005,,,acro-renal-mandibular syndrome,MONDO:0008707,,MeSH ID:C535665,,,,OMIM ID:200980 +BMGC_DS11903,BMG_DS040466,Ackerman syndrome,UMLS ID:C1860167,Ackerman syndrome (disorder) | Ackerman syndrome,SNOMEDCT ID:722280000,,,Ackerman syndrome,MONDO:0008706,,MeSH ID:C538170,,,,OMIM ID:200970 +BMGC_DS11904,BMG_DS040467,Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency,UMLS ID:C1860168,,,,,short-limb skeletal dysplasia with severe combined immunodeficiency,MONDO:0008704,,MeSH ID:C565984,,,,OMIM ID:200900 +BMGC_DS11905,BMG_DS040468,Achalasia microcephaly,UMLS ID:C1860212,,,,,achalasia microcephaly syndrome,MONDO:0008699,,MeSH ID:C536010,achalasia microcephaly syndrome,DOID:0050796,,OMIM ID:200450 +BMGC_DS11906,BMG_DS040469,"Achalasia, familial esophageal",UMLS ID:C1860213,,,,,"achalasia, familial esophageal",MONDO:0100457,,MeSH ID:C536011,,,,OMIM ID:200400 +BMGC_DS11907,BMG_DS040470,Acanthosis nigricans muscle cramps acral enlargement,UMLS ID:C1860215,,,,,acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,MONDO:0008696,,MeSH ID:C536000,,,,OMIM ID:200170 +BMGC_DS11908,BMG_DS040471,ABLEPHARON-MACROSTOMIA SYNDROME,UMLS ID:C1860224,,,,,ablepharon macrostomia syndrome,MONDO:0008693,,,ablepharon macrostomia syndrome,DOID:0060550,,OMIM ID:607556 | OMIM ID:200110 +BMGC_DS11909,BMG_DS040472,,UMLS ID:C1860228,,,,,"zinc, elevated plasma",MONDO:0008691,,,,,,OMIM ID:194470 +BMGC_DS11910,BMG_DS040474,,UMLS ID:C1860237,,,,,Woronets trait,MONDO:0008687,,,,,,OMIM ID:194320 +BMGC_DS11911,BMG_DS040475,,UMLS ID:C1860238,,,,,autosomal dominant wooly hair,MONDO:0020717,,,,,,OMIM ID:194300 +BMGC_DS11912,BMG_DS040476,Wilms Tumor 3,UMLS ID:C1860265,,,,,Wilms tumor 3,MONDO:0008683,,MeSH ID:C565991,,,,OMIM ID:194090 +BMGC_DS11913,BMG_DS040477,"Whispering dysphonia, hereditary",UMLS ID:C1860315,,,,,,,,MeSH ID:C536698,,,, +BMGC_DS11914,BMG_DS040478,"WAARDENBURG SYNDROME, TYPE IIA",UMLS ID:C1860339,,,,,Waardenburg syndrome type 2A,MONDO:0008671,,,,,,OMIM ID:193510 +BMGC_DS11915,BMG_DS040480,Tucker syndrome,UMLS ID:C1860403,Ptosis and vocal cord paralysis syndrome (disorder) | Ptosis and vocal cord paralysis syndrome | Tucker syndrome,SNOMEDCT ID:771263004,,,ptosis-vocal cord paralysis syndrome,MONDO:0008665,,MeSH ID:C536923,,,,OMIM ID:193240 +BMGC_DS11916,BMG_DS040481,Snowflake vitreoretinal degeneration,UMLS ID:C1860405,,,,,snowflake vitreoretinal degeneration,MONDO:0008663,,MeSH ID:C536677,snowflake vitreoretinal degeneration,DOID:0111570,,OMIM ID:193230 +BMGC_DS11917,BMG_DS040482,,UMLS ID:C1860446,,,,,"congenital vertical talus, bilateral",MONDO:0017547,,,,,, +BMGC_DS11918,BMG_DS040483,Vertebral Hypoplasia With Lumbar Kyphosis,UMLS ID:C1860463,,,,,vertebral hypoplasia with lumbar kyphosis,MONDO:0008651,,MeSH ID:C566002,,,,OMIM ID:192900 +BMGC_DS11919,BMG_DS040484,Vertebral fusion posterior lumbosacral blepharoptosis,UMLS ID:C1860464,,,,,posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,MONDO:0008650,,MeSH ID:C536344,,,,OMIM ID:192800 +BMGC_DS11920,BMG_DS040485,"Venular Insufficiency, Systemic",UMLS ID:C1860465,,,,,"venular insufficiency, systemic",MONDO:0008649,,MeSH ID:C566004,,,,OMIM ID:192700 +BMGC_DS11921,BMG_DS040486,Stoll Alembik Dott syndrome,UMLS ID:C1860471,,,,,ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome,MONDO:0008645,,MeSH ID:C537497,,,,OMIM ID:192445 +BMGC_DS11922,BMG_DS040488,"Vasculopathy, Retinal, With Cerebral Leukodystrophy",UMLS ID:C1860518,,,,,retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,MONDO:0008641,,MeSH ID:C566007,retinal vasculopathy with cerebral leukodystrophy,DOID:0111567,,OMIM ID:192315 +BMGC_DS11923,BMG_DS040489,"Vasculitis, Lymphocytic, Nodular",UMLS ID:C1860519,,,,,"vasculitis, lymphocytic, nodular",MONDO:0008640,,MeSH ID:C566008,,,,OMIM ID:192310 +BMGC_DS11924,BMG_DS040492,"Urticaria, Familial Localized Heat",UMLS ID:C1860551,,,,,"urticaria, familial localized heat",MONDO:0008634,,MeSH ID:C566011,,,,OMIM ID:191950 +BMGC_DS11925,BMG_DS040493,"Ureter, Bifid Or Double",UMLS ID:C1860586,,,,,"ureter, bifid or double",MONDO:0008626,,MeSH ID:C566012,,,,OMIM ID:191550 +BMGC_DS11926,BMG_DS040495,Upington disease,UMLS ID:C1860596,Upington disease | Hip dysplasia with enchondromata and ecchondroma syndrome | Hip dysplasia with enchondromata and ecchondroma syndrome (disorder),SNOMEDCT ID:719041000,,,Upington disease,MONDO:0008624,,MeSH ID:C536472,,,,OMIM ID:191520 +BMGC_DS11927,BMG_DS040496,Undritz Anomaly,UMLS ID:C1860604,,,,,Undritz anomaly,MONDO:0008623,,MeSH ID:C566014,,,,OMIM ID:191500 +BMGC_DS11928,BMG_DS040498,Ulna metaphyseal dysplasia syndrome,UMLS ID:C1860615,Ulna metaphyseal dysplasia syndrome (disorder) | Ulna metaphyseal dysplasia syndrome | Rosenberg-Lohr syndrome,SNOMEDCT ID:715242008,,,ulna metaphyseal dysplasia syndrome,MONDO:0008619,,MeSH ID:C536935,,,,OMIM ID:191420 +BMGC_DS11929,BMG_DS040500,Tune Deafness,UMLS ID:C1860646,,,,,tune deafness,MONDO:0008615,,MeSH ID:C566019,,,,OMIM ID:191200 +BMGC_DS11930,BMG_DS040502,Tuberous Sclerosis 2,UMLS ID:C1860707,,,,,tuberous sclerosis 2,MONDO:0013199,,MeSH ID:C566021,tuberous sclerosis 2,DOID:0080325,,OMIM ID:613254 +BMGC_DS11931,BMG_DS040503,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7",UMLS ID:C1860752,,,,,hypertrophic cardiomyopathy 7,MONDO:0013369,,,hypertrophic cardiomyopathy 7,DOID:0110313,,OMIM ID:191044 | OMIM ID:613690 +BMGC_DS11932,BMG_DS040504,,UMLS ID:C1860773,,,,,humerus trochlea aplasia,MONDO:0008611,,,,,,OMIM ID:191000 +BMGC_DS11933,BMG_DS040505,,UMLS ID:C1860785,,,,,Tristichiasis,MONDO:0008609,,,,,,OMIM ID:190800 +BMGC_DS11934,BMG_DS040506,Transient Myeloproliferative Disorder of Down Syndrome,UMLS ID:C1860788,,,,,,,,MeSH ID:C566024,,,, +BMGC_DS11935,BMG_DS040507,Triphalangeal thumbs brachyectrodactyly,UMLS ID:C1860804,,,,,triphalangeal thumbs-brachyectrodactyly syndrome,MONDO:0008607,,MeSH ID:C536564,,,,OMIM ID:190680 +BMGC_DS11936,BMG_DS040508,Say Field Coldwell syndrome,UMLS ID:C1860805,Triphalangeal thumb and dislocation of patella syndrome (disorder) | Triphalangeal thumb and dislocation of patella syndrome | Say Field Coldwell syndrome,SNOMEDCT ID:733456002,,,Say-field-Coldwell syndrome,MONDO:0008606,,MeSH ID:C536619,,,,OMIM ID:190650 +BMGC_DS11937,BMG_DS040509,Triphalangeal Thumb with Double Phalanges,UMLS ID:C1860807,,,,,triphalangeal thumb with double phalanges,MONDO:0008604,,MeSH ID:C566028,,,,OMIM ID:190500 +BMGC_DS11938,BMG_DS040510,Triosephosphate Isomerase Deficiency,UMLS ID:C1860808,,,,,triosephosphate isomerase deficiency,MONDO:0014221,,MeSH ID:C566029,triosephosphate isomerase deficiency,DOID:0050884,,OMIM ID:615512 +BMGC_DS11939,BMG_DS040511,"Triglyceride Storage Disease, Type II",UMLS ID:C1860820,,,,,"triglyceride storage disease, type 2",MONDO:0008602,,MeSH ID:C566030,,,,OMIM ID:190430 +BMGC_DS11940,BMG_DS040512,"Triglyceride Storage Disease, Type I",UMLS ID:C1860821,,,,,"triglyceride storage disease, type 1",MONDO:0008601,,MeSH ID:C566031,,,,OMIM ID:190420 +BMGC_DS11941,BMG_DS040514,"Trichorhinophalangeal Syndrome, Type III",UMLS ID:C1860823,,,,,"obsolete trichorhinophalangeal syndrome, type III",MONDO:0008597,,MeSH ID:C566033,,,,OMIM ID:190351 +BMGC_DS11942,BMG_DS040517,Familial multiple trichodiscomas,UMLS ID:C1860850,,,,,familial multiple discoid fibromas,MONDO:0008594,,MeSH ID:C536847,,,,OMIM ID:190340 +BMGC_DS11943,BMG_DS040518,Neuhauser Daly Magnelli syndrome,UMLS ID:C1860860,"Tremor, nystagmus, duodenal ulcer syndrome (disorder) | Tremor, nystagmus, duodenal ulcer syndrome | Neuhauser Daly Magnelli syndrome",SNOMEDCT ID:782935003,,,tremor-nystagmus-duodenal ulcer syndrome,MONDO:0008591,,MeSH ID:C536406,,,,OMIM ID:190310 +BMGC_DS11944,BMG_DS040519,"TREMOR, HEREDITARY ESSENTIAL, 1",UMLS ID:C1860861,,,,,"tremor, hereditary essential, 1",MONDO:0008590,,,essential tremor 1,DOID:0111428,,OMIM ID:190300 +BMGC_DS11945,BMG_DS040520,"Tremor of Intention, Ataxia, and Lipofuscinosis",UMLS ID:C1860872,,,,,"tremor of intention, ataxia, and lipofuscinosis",MONDO:0008589,,MeSH ID:C566038,,,,OMIM ID:190200 +BMGC_DS11946,BMG_DS040521,,UMLS ID:C1860896,,,,,"colorectal cancer, hereditary nonpolyposis, type 6",MONDO:0013695,,,,,,OMIM ID:614331 +BMGC_DS11947,BMG_DS040522,,UMLS ID:C1860972,,,,,hereditary geniospasm,MONDO:0008588,,,,,,OMIM ID:190100 +BMGC_DS11948,BMG_DS040523,NOONAN SYNDROME 3,UMLS ID:C1860991,,,,,Noonan syndrome 3,MONDO:0012371,,,,,,OMIM ID:190070 | OMIM ID:609942 +BMGC_DS11949,BMG_DS040524,Esophageal atresia with or without tracheoesophageal fistula,UMLS ID:C1861028,,,,,,,,MeSH ID:C531835,,,, +BMGC_DS11950,BMG_DS040526,,UMLS ID:C1861058,,,,,"toes, space between first and second",MONDO:0008580,,,,,,OMIM ID:189230 +BMGC_DS11951,BMG_DS040527,,UMLS ID:C1861059,,,,,"toes, relative length of first and second",MONDO:0008579,,,,,,OMIM ID:189200 +BMGC_DS11952,BMG_DS040528,,UMLS ID:C1861060,,,,,"toe, rotated fifth",MONDO:0008578,,,,,,OMIM ID:189150 +BMGC_DS11953,BMG_DS040529,,UMLS ID:C1861061,,,,,"toe, misshapen",MONDO:0008577,,,,,,OMIM ID:189100 +BMGC_DS11954,BMG_DS040530,,UMLS ID:C1861062,,,,,"toe, fifth, number of phalanges 1N",MONDO:0008576,,,,,,OMIM ID:189000 +BMGC_DS11955,BMG_DS040531,,UMLS ID:C1861063,,,,,"tobacco addiction, susceptibility to",MONDO:0100460,,,,,,OMIM ID:188890 +BMGC_DS11956,BMG_DS040532,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",UMLS ID:C1861065,,,,,hypertrophic cardiomyopathy 9,MONDO:0013412,,,hypertrophic cardiomyopathy 9,DOID:0110315,,OMIM ID:188840 | OMIM ID:613765 +BMGC_DS11957,BMG_DS040533,"Tibial Torsion, Bilateral Medial",UMLS ID:C1861097,,,,,"tibial torsion, bilateral medial",MONDO:0008573,,MeSH ID:C566045,,,,OMIM ID:188800 +BMGC_DS11958,BMG_DS040534,"Tibia, Hypoplasia of, with Polydactyly",UMLS ID:C1861098,,,,,"tibia, hypoplasia or aplasia of, with polydactyly",MONDO:0008572,,MeSH ID:C566046,,,,OMIM ID:188740 +BMGC_DS11959,BMG_DS040535,Absence of tibia with polydactyly,UMLS ID:C1861099,,,,,,,,MeSH ID:C535564,hypoplastic or aplastic tibia with polydactyly,DOID:0111564,, +BMGC_DS11960,BMG_DS040536,THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT,UMLS ID:C1861101,,,,,thyroid hormone plasma membrane transport defect,MONDO:0008568,,,,,,OMIM ID:188560 +BMGC_DS11961,BMG_DS040537,Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency,UMLS ID:C1861106,Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) | Resistance to thyrotropin-releasing hormone syndrome | TRH (thyrotropin-releasing hormone) resistance syndrome | Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency,SNOMEDCT ID:725462002,,,"hypothyroidism, congenital, nongoitrous, 7",MONDO:0032819,,,,,,OMIM ID:618573 +BMGC_DS11962,BMG_DS040541,"Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay",UMLS ID:C1861166,,,,,thumb stiffness-brachydactyly-intellectual disability syndrome,MONDO:0008563,,MeSH ID:C566053,,,,OMIM ID:188201 +BMGC_DS11963,BMG_DS040542,Thumb Deformity And Alopecia,UMLS ID:C1861168,,,,,thumb deformity-alopecia-pigmentation anomaly syndrome,MONDO:0008562,,MeSH ID:C566054,,,,OMIM ID:188150 +BMGC_DS11964,BMG_DS040543,Thrombophilia due to Activated Protein C Resistance,UMLS ID:C1861171,,,,,thrombophilia due to activated protein C resistance,MONDO:0008560,,MeSH ID:C566056,thrombophilia due to activated protein C resistance,DOID:0111902,,OMIM ID:188055 +BMGC_DS11965,BMG_DS040544,Venous Thromboembolism,UMLS ID:C1861172,,,,,venous thromboembolism,MONDO:0005399,Venous Thromboembolism,MeSH ID:D054556,,,, +BMGC_DS11966,BMG_DS040545,Thrombocytopenia 2,UMLS ID:C1861185,,,,,thrombocytopenia 2,MONDO:0008555,,MeSH ID:C536519,,,,OMIM ID:188000 +BMGC_DS11967,BMG_DS040546,"Thrombasthenia-Thrombocytopenia, Hereditary",UMLS ID:C1861194,,,,,platelet-type bleeding disorder 17,MONDO:0008553,,MeSH ID:C566060,,,,OMIM ID:187900 +BMGC_DS11968,BMG_DS040547,"Glanzmann Thrombasthenia, Autosomal Dominant",UMLS ID:C1861195,,,,,,,,MeSH ID:C566061,,,, +BMGC_DS11969,BMG_DS040549,Thoracolaryngopelvic dysplasia,UMLS ID:C1861197,Thoracolaryngopelvic dysplasia | Barnes syndrome | Thoracolaryngopelvic dysplasia syndrome (disorder) | Thoracolaryngopelvic dysplasia syndrome,SNOMEDCT ID:723556008,,,thoracolaryngopelvic dysplasia,MONDO:0008551,,MeSH ID:C536517,,,,OMIM ID:187760 | OMIM ID:187770 +BMGC_DS11970,BMG_DS040550,"Thoracic Dysostosis, Isolated",UMLS ID:C1861204,,,,,"thoracic dysostosis, isolated",MONDO:0008549,,MeSH ID:C566063,,,,OMIM ID:187750 +BMGC_DS11971,BMG_DS040552,"Thalassemia, Beta+, Silent Allele",UMLS ID:C1861232,,,,,"thalassemia, beta+, silent allele",MONDO:0008545,,MeSH ID:C566065,,,,OMIM ID:187550 +BMGC_DS11972,BMG_DS040553,,UMLS ID:C1861233,,,,,tetramelic monodactyly,MONDO:0008544,,,,,,OMIM ID:187510 +BMGC_DS11973,BMG_DS040554,Tetralogy of fallot and glaucoma,UMLS ID:C1861234,,,,,tetralogy of fallot and glaucoma,MONDO:0008543,,MeSH ID:C536501,,,,OMIM ID:187501 +BMGC_DS11974,BMG_DS040555,Forebrain Defects,UMLS ID:C1861235,,,,,,,,MeSH ID:C566067,,,, +BMGC_DS11975,BMG_DS040556,,UMLS ID:C1861237,,,,,extensor tendons of finger anomalies,MONDO:0008540,,,,,,OMIM ID:187390 +BMGC_DS11976,BMG_DS040557,"ARTHROGRYPOSIS, DISTAL, TYPE 10",UMLS ID:C1861238,,,,,distal arthrogryposis type 10,MONDO:0016675,,,,,,OMIM ID:187370 +BMGC_DS11977,BMG_DS040559,"Teeth, Odd Shapes Of",UMLS ID:C1861274,,,,,"teeth, odd shapes of",MONDO:0008530,,MeSH ID:C566076,,,,OMIM ID:187000 +BMGC_DS11978,BMG_DS040565,,UMLS ID:C1861296,,,,,talonavicular coalition,MONDO:0008526,,,,,,OMIM ID:186750 +BMGC_DS11979,BMG_DS040566,Immunodeficiency due to Defect in CD3-Gamma,UMLS ID:C1861297,,,,,,,,MeSH ID:C566083,,,, +BMGC_DS11980,BMG_DS040568,,UMLS ID:C1861302,,,,,"syringomas, multiple",MONDO:0008524,,,,,,OMIM ID:186600 +BMGC_DS11981,BMG_DS040569,"Granulomatous inflammatory arthritis, dermatitis and uveitis, familial",UMLS ID:C1861303,"Arthrocutaneouveal granulamotosis | Familial juvenile systemic granulomatosis | Familial granulomatosis, Blau type | Pediatric granulomatous arthritis | Familial granulomatous inflammatory arthritis, dermatitis and uveitis | Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) | Granulomatous inflammatory arthritis, dermatitis and uveitis, familial | Paediatric granulomatous arthritis",SNOMEDCT ID:699861000,,,,,,,,,, +BMGC_DS11982,BMG_DS040570,"Synovial Chondromatosis, Familial, with Dwarfism",UMLS ID:C1861304,,,,,"synovial chondromatosis, familial, with dwarfism",MONDO:0008522,,MeSH ID:C566087,,,,OMIM ID:186575 +BMGC_DS11983,BMG_DS040571,TARSAL-CARPAL COALITION SYNDROME,UMLS ID:C1861305,,,,,tarsal-carpal coalition syndrome,MONDO:0008521,,,tarsal-carpal coalition syndrome,DOID:0050789,,OMIM ID:186570 | OMIM ID:602991 +BMGC_DS11984,BMG_DS040573,"Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",UMLS ID:C1861313,,,,,brachydactyly-elbow wrist dysplasia syndrome,MONDO:0008520,,MeSH ID:C566090,,,,OMIM ID:186550 +BMGC_DS11985,BMG_DS040575,Syndactyly-Polydactyly-Earlobe Syndrome,UMLS ID:C1861347,,,,,syndactyly-polydactyly-ear lobe syndrome,MONDO:0008517,,MeSH ID:C566091,,,,OMIM ID:186350 +BMGC_DS11986,BMG_DS040576,,UMLS ID:C1861348,,,,,syndactyly type 5,MONDO:0008516,,,syndactyly type 5,DOID:0111819,,OMIM ID:186300 +BMGC_DS11987,BMG_DS040577,"Syndactyly, Type IV",UMLS ID:C1861355,,,,,syndactyly type 4,MONDO:0008515,,MeSH ID:C566092,syndactyly type 4,DOID:0111818,,OMIM ID:186200 +BMGC_DS11988,BMG_DS040578,"SYNDACTYLY, TYPE III",UMLS ID:C1861366,,,,,syndactyly type 3,MONDO:0008514,,,syndactyly type 3,DOID:0111817,,OMIM ID:186100 | OMIM ID:121014 +BMGC_DS11989,BMG_DS040580,"Syndactyly, Type I",UMLS ID:C1861380,,,,,syndactyly type 1,MONDO:0008512,,MeSH ID:C566096,,,,OMIM ID:185900 +BMGC_DS11990,BMG_DS040581,,UMLS ID:C1861385,,,,,proximal symphalangism,MONDO:0008511,,,,,, +BMGC_DS11991,BMG_DS040583,,UMLS ID:C1861401,,,,,distal symphalangism,MONDO:0008509,,,,,,OMIM ID:185700 +BMGC_DS11992,BMG_DS040584,"Symphalangism, C. S. Lewis Type",UMLS ID:C1861404,,,,,"symphalangism, C. S. Lewis type",MONDO:0008508,,MeSH ID:C566100,,,,OMIM ID:185650 +BMGC_DS11993,BMG_DS040586,Symphalangism of Toes,UMLS ID:C1861418,,,,,symphalangism of toes,MONDO:0008506,,MeSH ID:C566101,,,,OMIM ID:185600 +BMGC_DS11994,BMG_DS040588,"Sulfhemoglobinemia, Congenital",UMLS ID:C1861437,,,,,"sulfhemoglobinemia, congenital",MONDO:0008502,,MeSH ID:C566102,,,,OMIM ID:185460 +BMGC_DS11995,BMG_DS040590,"Striae Distensae, Familial",UMLS ID:C1861447,,,,,"striae distensae, familial",MONDO:0008500,,MeSH ID:C566104,,,,OMIM ID:185200 +BMGC_DS11996,BMG_DS040592,,UMLS ID:C1861449,,,,,"strabismus, susceptibility to",MONDO:0008498,,,,,,OMIM ID:185100 +BMGC_DS11997,BMG_DS040594,Stormorken Syndrome,UMLS ID:C1861451,,,,,Stormorken syndrome,MONDO:0008497,,MeSH ID:C566108,Stormorken syndrome,DOID:0060354,,OMIM ID:185070 +BMGC_DS11998,BMG_DS040596,Pseudohyperkalemia Cardiff,UMLS ID:C1861453,,,,,cryohydrocytosis,MONDO:0008494,,MeSH ID:C535827,,,,OMIM ID:185020 +BMGC_DS11999,BMG_DS040598,,UMLS ID:C1861455,,,,,overhydrated hereditary stomatocytosis,MONDO:0008493,,,,,,OMIM ID:185000 +BMGC_DS12000,BMG_DS040599,Stiff Skin Syndrome,UMLS ID:C1861456,,,,,stiff skin syndrome,MONDO:0008492,,MeSH ID:C566112,stiff skin syndrome,DOID:0111561,,OMIM ID:184900 +BMGC_DS12001,BMG_DS040600,PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY,UMLS ID:C1861457,,,,,progressive encephalomyelitis with rigidity and myoclonus,MONDO:0018581,,,,,,OMIM ID:184850 +BMGC_DS12002,BMG_DS040601,"Stickler syndrome, type 3",UMLS ID:C1861481,,,,,,,,MeSH ID:C537494,,,, +BMGC_DS12003,BMG_DS040603,COLCHICINE RESISTANCE,UMLS ID:C1861502,,,,,,,,,,,,OMIM ID:120080 | OMIM ID:171050 +BMGC_DS12004,BMG_DS040604,Cochleosaccular degeneration of the inner ear and progressive cataracts,UMLS ID:C1861512,,,,,cochleosaccular degeneration-cataract syndrome,MONDO:0007346,,MeSH ID:C536432,,,,OMIM ID:120040 +BMGC_DS12005,BMG_DS040605,"Cluster Headache, Familial",UMLS ID:C1861513,,,,,"cluster headache, familial",MONDO:0007344,,MeSH ID:C566117,,,,OMIM ID:119915 +BMGC_DS12006,BMG_DS040606,Cleidorhizomelic syndrome,UMLS ID:C1861515,Cleidorhizomelic syndrome (disorder) | Cleidorhizomelic syndrome | Rhizomelic shortness with clavicular defect | Wallis Zieff Goldblatt syndrome,SNOMEDCT ID:719471002,,,cleidorhizomelic syndrome,MONDO:0007341,,MeSH ID:C536428,,,,OMIM ID:119650 +BMGC_DS12007,BMG_DS040608,Blepharo-cheilo-dontic syndrome,UMLS ID:C1861536,,,,,blepharocheilodontic syndrome,MONDO:0007339,,MeSH ID:C536188,blepharocheilodontic syndrome,DOID:0080344,, +BMGC_DS12008,BMG_DS040609,OROFACIAL CLEFT 1,UMLS ID:C1861537,,,,,orofacial cleft 1,MONDO:0007335,,,,,,OMIM ID:119530 +BMGC_DS12009,BMG_DS040610,Split-Hand-Foot Malformation With Long Bone Deficiency 1,UMLS ID:C1861553,,,,,split-hand/foot malformation with long bone deficiency 1,MONDO:0007332,,MeSH ID:C536425,,,,OMIM ID:119100 +BMGC_DS12010,BMG_DS040611,"Cirrhosis, Familial",UMLS ID:C1861556,,,,,"cirrhosis, familial",MONDO:0007329,,MeSH ID:C566123,,,,OMIM ID:215600 +BMGC_DS12011,BMG_DS040614,"Chylomicronemia, Familial, due to Circulating Inhibitor of Lipoprotein Lipase",UMLS ID:C1861560,,,,,"chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase",MONDO:0007327,,MeSH ID:C566126,,,,OMIM ID:118830 +BMGC_DS12012,BMG_DS040615,"Choreoathetosis, Familial Inverted",UMLS ID:C1861569,,,,,"choreoathetosis, familial inverted",MONDO:0007325,,MeSH ID:C566127,,,,OMIM ID:118750 +BMGC_DS12013,BMG_DS040622,Charcot-Marie-Tooth disease and deafness,UMLS ID:C1861669,,,,,Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome,MONDO:0008960,,MeSH ID:C538078,,,,OMIM ID:214370 +BMGC_DS12014,BMG_DS040624,"Charcot-Marie-Tooth Disease, Axonal, Type 2a1",UMLS ID:C1861678,,,,,Charcot-Marie-Tooth disease type 2A1,MONDO:0007308,,MeSH ID:C566138,,,,OMIM ID:118210 +BMGC_DS12015,BMG_DS040625,,UMLS ID:C1861689,,,,,"Klippel-Feil syndrome 1, autosomal dominant",MONDO:0007306,,,,,,OMIM ID:118100 +BMGC_DS12016,BMG_DS040626,Cervical Vertebral Dysplasia,UMLS ID:C1861693,,,,,cervical vertebral dysplasia,MONDO:0007305,,MeSH ID:C566140,,,,OMIM ID:118005 +BMGC_DS12017,BMG_DS040627,,UMLS ID:C1861694,,,,,cervical vertebral Bridge,MONDO:0007304,,,,,,OMIM ID:118000 +BMGC_DS12018,BMG_DS040628,Cervical Hypertrichosis with Underlying Kyphoscoliosis,UMLS ID:C1861695,,,,,cervical hypertrichosis with underlying kyphoscoliosis,MONDO:0007302,,MeSH ID:C566142,,,,OMIM ID:117850 +BMGC_DS12019,BMG_DS040629,"EAR WAX, WET/DRY",UMLS ID:C1861696,,,,,,,,,,,,OMIM ID:117800 | OMIM ID:607040 +BMGC_DS12020,BMG_DS040631,Spinocerebellar Ataxia 29,UMLS ID:C1861732,,,,,spinocerebellar ataxia type 29,MONDO:0007298,,MeSH ID:C537206,,,,OMIM ID:117360 +BMGC_DS12021,BMG_DS040632,"Dementia, familial Danish",UMLS ID:C1861735,,,,,ADan amyloidosis,MONDO:0007297,,MeSH ID:C538209,,,,OMIM ID:117300 +BMGC_DS12022,BMG_DS040633,Spinocerebellar Ataxia 31,UMLS ID:C1861736,,,,,spinocerebellar ataxia type 31,MONDO:0007296,,MeSH ID:C566146,,,,OMIM ID:117210 +BMGC_DS12023,BMG_DS040637,"Multiminicore Disease, Moderate, with Hand Involvement",UMLS ID:C1861753,,,,,moderate multiminicore disease with hand involvement,MONDO:0015793,,MeSH ID:C566147,,,, +BMGC_DS12024,BMG_DS040638,Median Arcuate Ligament Syndrome,UMLS ID:C1861783,,,,,celiac artery stenosis from compression by median arcuate ligament of diaphragm,MONDO:0004914,Median Arcuate Ligament Syndrome,MeSH ID:D000074742,median arcuate ligament syndrome,DOID:9892,,OMIM ID:116870 +BMGC_DS12025,BMG_DS040639,Cavernous Malformations of CNS and Retina,UMLS ID:C1861785,,,,,,,,MeSH ID:C566152,,,, +BMGC_DS12026,BMG_DS040640,Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations,UMLS ID:C1861786,,,,,,,,MeSH ID:C566153,,,, +BMGC_DS12027,BMG_DS040642,"CATARACT, MARNER TYPE",UMLS ID:C1861821,,,,,,,,,,,,OMIM ID:116800 +BMGC_DS12028,BMG_DS040643,"CATARACT, POSTERIOR POLAR, 1",UMLS ID:C1861825,,,,,cataract 6 multiple types,MONDO:0007288,,,,,,OMIM ID:116600 +BMGC_DS12029,BMG_DS040645,"Cataract, Nuclear Diffuse Nonprogressive",UMLS ID:C1861827,,,,,,,,MeSH ID:C566157,,,, +BMGC_DS12030,BMG_DS040646,"Cataract, Zonular Pulverulent 1",UMLS ID:C1861828,,,,,cataract 1 multiple types,MONDO:0007285,,MeSH ID:C566158,,,,OMIM ID:116200 +BMGC_DS12031,BMG_DS040647,Cataract microcornea syndrome,UMLS ID:C1861829,,,,,cataract - microcornea syndrome,MONDO:0015300,,MeSH ID:C538287,,,, +BMGC_DS12032,BMG_DS040650,"CATARACT, CONGENITAL, VOLKMANN TYPE",UMLS ID:C1861833,,,,,cataract 8 multiple types,MONDO:0007280,,,,,,OMIM ID:115665 +BMGC_DS12033,BMG_DS040652,,UMLS ID:C1861847,,,,,carpal displacement,MONDO:0007274,,,,,,OMIM ID:115400 +BMGC_DS12034,BMG_DS040653,PARAGANGLIOMAS 4,UMLS ID:C1861848,,,,,paragangliomas 4,MONDO:0007273,,,,,,OMIM ID:115310 +BMGC_DS12035,BMG_DS040655,"Cardiomyopathy, Familial Restrictive, 1",UMLS ID:C1861861,,,,,"cardiomyopathy, familial restrictive, 1",MONDO:0007270,,MeSH ID:C566168,,,,OMIM ID:115210 +BMGC_DS12036,BMG_DS040656,,UMLS ID:C1861862,,,,,hypertrophic cardiomyopathy 4,MONDO:0007268,,,,,,OMIM ID:115197 +BMGC_DS12037,BMG_DS040657,"Cardiomyopathy, Familial Hypertrophic, 3",UMLS ID:C1861863,,,,,hypertrophic cardiomyopathy 3,MONDO:0007267,,MeSH ID:C566170,,,,OMIM ID:115196 +BMGC_DS12038,BMG_DS040658,"Cardiomyopathy, Familial Hypertrophic, 2",UMLS ID:C1861864,,,,,hypertrophic cardiomyopathy 2,MONDO:0007266,,MeSH ID:C566171,,,,OMIM ID:115195 +BMGC_DS12039,BMG_DS040659,Familial Sudden Death,UMLS ID:C1861884,,,,,,,,MeSH ID:C566172,,,, +BMGC_DS12040,BMG_DS040660,Monocyte Esterase Deficiency,UMLS ID:C1861889,,,,,,,,MeSH ID:C566173,,,, +BMGC_DS12041,BMG_DS040662,Carabelli Anomaly of Maxillary Molar Teeth,UMLS ID:C1861897,,,,,Carabelli anomaly of maxillary molar teeth,MONDO:0007261,,MeSH ID:C566175,,,,OMIM ID:114700 +BMGC_DS12042,BMG_DS040663,Car Factor Deficiency,UMLS ID:C1861898,,,,,Car factor deficiency,MONDO:0007260,,MeSH ID:C566176,,,,OMIM ID:114650 +BMGC_DS12043,BMG_DS040664,"CANINE TEETH, ABSENCE OF UPPER PERMANENT",UMLS ID:C1861899,,,,,"canine teeth, absence of upper permanent",MONDO:0007258,,,,,,OMIM ID:114600 +BMGC_DS12044,BMG_DS040665,,UMLS ID:C1861915,,,,,"cancer, familial, with in vitro Radioresistance",MONDO:0007253,,,,,,OMIM ID:114450 +BMGC_DS12045,BMG_DS040666,CAMPOMELIC DYSPLASIA,UMLS ID:C1861922,,,,,campomelic dysplasia,MONDO:0007251,,,campomelic dysplasia,DOID:0050463,,OMIM ID:114290 | OMIM ID:608160 +BMGC_DS12046,BMG_DS040667,Acampomelic Campomelic Dysplasia,UMLS ID:C1861923,,,,,,,Campomelic Dysplasia,MeSH ID:D055036,campomelic dysplasia,DOID:0050463,, +BMGC_DS12047,BMG_DS040668,,UMLS ID:C1861963,,,,,camptobrachydactyly,MONDO:0007249,,,,,,OMIM ID:114150 +BMGC_DS12048,BMG_DS040669,"Callosities, Hereditary Painful",UMLS ID:C1861964,,,,,hereditary painful callosities,MONDO:0007248,,MeSH ID:C566180,,,,OMIM ID:114140 +BMGC_DS12049,BMG_DS040670,"Idiopathic basal ganglia calcification, childhood onset",UMLS ID:C1861967,,,,,"basal ganglia calcification, idiopathic, childhood-onset",MONDO:0007247,,MeSH ID:C536276,,,,OMIM ID:114100 +BMGC_DS12050,BMG_DS040671,"Calcific Aortic Disease with Immunologic Abnormalities, Familial",UMLS ID:C1861974,,,,,"calcific aortic disease with immunologic abnormalities, familial",MONDO:0007246,,MeSH ID:C566182,,,,OMIM ID:114065 +BMGC_DS12051,BMG_DS040672,"Cafe au lait spots, multiple",UMLS ID:C1861975,,,,,"cafe au lait spots, multiple",MONDO:0007245,,MeSH ID:C537421,,,,OMIM ID:114030 +BMGC_DS12052,BMG_DS040675,"Heart Block, Nonprogressive",UMLS ID:C1861983,,,,,,,,MeSH ID:C566185,,,, +BMGC_DS12053,BMG_DS040676,"Cardiac Conduction Defect, Nonprogressive",UMLS ID:C1861984,,,,,,,,MeSH ID:C566186,,,, +BMGC_DS12054,BMG_DS040681,Brachymorphism-onychodysplasia-dysphalangism syndrome,UMLS ID:C1862082,,,,,Brachymorphism-onychodysplasia-dysphalangism syndrome,MONDO:0007230,,MeSH ID:C536242,,,,OMIM ID:113477 +BMGC_DS12055,BMG_DS040685,Brachydactyly-Nystagmus-Cerebellar Ataxia,UMLS ID:C1862099,,,,,brachydactyly-nystagmus-cerebellar ataxia syndrome,MONDO:0007226,,MeSH ID:C566192,,,,OMIM ID:113400 +BMGC_DS12056,BMG_DS040686,Fibular aplasia ectrodactyly,UMLS ID:C1862100,,,,,fibular aplasia-ectrodactyly syndrome,MONDO:0007225,,MeSH ID:C537930,,,,OMIM ID:113310 +BMGC_DS12057,BMG_DS040687,"Brachydactyly, Type E, with Atrial Septal Defect, Type II",UMLS ID:C1862101,,,,,"brachydactyly, type E, with atrial septal defect, type 2",MONDO:0007224,,MeSH ID:C566193,,,,OMIM ID:113301 +BMGC_DS12058,BMG_DS040688,,UMLS ID:C1862102,,,,,brachydactyly type E1,MONDO:0007223,,,,,,OMIM ID:113300 +BMGC_DS12059,BMG_DS040689,,UMLS ID:C1862103,,,,,brachydactyly type C,MONDO:0007221,,,brachydactyly type C,DOID:0110970,,OMIM ID:113100 +BMGC_DS12060,BMG_DS040690,,UMLS ID:C1862112,,,,,brachydactyly type B1,MONDO:0007220,,,,,,OMIM ID:113000 +BMGC_DS12061,BMG_DS040691,Brachydactyly type A6,UMLS ID:C1862130,Brachydactyly type A6 (disorder) | Brachydactyly type A6 | Osebold Remondini syndrome,SNOMEDCT ID:715722003,,,Osebold-Remondini syndrome,MONDO:0007219,,MeSH ID:C537092,brachydactyly type A6,DOID:0110968,,OMIM ID:112910 +BMGC_DS12062,BMG_DS040693,,UMLS ID:C1862139,,,,,brachydactyly type A4,MONDO:0007218,,,,,,OMIM ID:112800 +BMGC_DS12063,BMG_DS040694,,UMLS ID:C1862140,,,,,brachydactyly type A3,MONDO:0007217,,,,,,OMIM ID:112700 +BMGC_DS12064,BMG_DS040695,Brachydactyly type A1,UMLS ID:C1862151,Brachydactyly type A1 (disorder) | Brachydactyly type A1 | Brachydactyly Farabee type,SNOMEDCT ID:715720006,,,brachydactyly type A1,MONDO:0007215,,MeSH ID:C537088,brachydactyly type A1,DOID:0110964,,OMIM ID:MTHU019237 | OMIM ID:112500 +BMGC_DS12065,BMG_DS040696,Brachydactyly preaxial with hallux varus and thumb abduction,UMLS ID:C1862162,,,,,brachydactyly-preaxial hallux varus syndrome,MONDO:0007214,,MeSH ID:C537087,,,,OMIM ID:112450 +BMGC_DS12066,BMG_DS040699,Brachydactyly with hypertension,UMLS ID:C1862170,,,,,brachydactyly-arterial hypertension syndrome,MONDO:0007211,,MeSH ID:C537095,hypertension and brachydactyly syndrome,DOID:0111247,,OMIM ID:112410 +BMGC_DS12067,BMG_DS040700,"Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay",UMLS ID:C1862171,,,,,"Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay",MONDO:0007210,,MeSH ID:C566206,,,,OMIM ID:112370 +BMGC_DS12068,BMG_DS040701,Weismann Netter syndrome,UMLS ID:C1862172,Weismann Netter syndrome (disorder) | Weismann Netter syndrome | Anterior bowing of legs with dwarfism,SNOMEDCT ID:715532007,,,Weismann-Netter syndrome,MONDO:0007209,,MeSH ID:C537082,,,,OMIM ID:112350 +BMGC_DS12069,BMG_DS040702,,UMLS ID:C1862176,,,,,"bone pain, periodic",MONDO:0007206,,,,,,OMIM ID:112270 +BMGC_DS12070,BMG_DS040703,Diaphyseal medullary stenosis with malignant fibrous histiocytoma,UMLS ID:C1862177,,,,,diaphyseal medullary stenosis-bone malignancy syndrome,MONDO:0007205,,MeSH ID:C536169,diaphyseal medullary stenosis with malignant fibrous histiocytoma,DOID:0080664,,OMIM ID:112250 +BMGC_DS12071,BMG_DS040704,Cole Carpenter syndrome,UMLS ID:C1862178,"Cole-Carpenter dysplasia (disorder) | Cole-Carpenter dysplasia | Bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome | Cole Carpenter syndrome",SNOMEDCT ID:389199001,,,Cole-Carpenter syndrome,MONDO:0016085,,MeSH ID:C535963,Cole-Carpenter syndrome,DOID:0060438,, +BMGC_DS12072,BMG_DS040708,Blepharoptosis myopia ectopia lentis,UMLS ID:C1862259,,,,,blepharoptosis-myopia-ectopia lentis syndrome,MONDO:0007202,,MeSH ID:C536236,,,,OMIM ID:110150 +BMGC_DS12073,BMG_DS040709,Bpes With Ovarian Failure,UMLS ID:C1862262,,,,,,,,MeSH ID:C566222,,,, +BMGC_DS12074,BMG_DS040710,Bpes Without Ovarian Failure,UMLS ID:C1862263,,,,,,,,MeSH ID:C566222,,,, +BMGC_DS12075,BMG_DS040711,Bpes With Duane Retraction Syndrome,UMLS ID:C1862264,,,,,,,,MeSH ID:C566222,,,, +BMGC_DS12076,BMG_DS040712,"Blepharochalasis, Superior",UMLS ID:C1862275,,,,,"blepharochalasis, superior",MONDO:0007199,,MeSH ID:C566223,,,,OMIM ID:110000 +BMGC_DS12077,BMG_DS040714,"Basilar Impression, Primary",UMLS ID:C1862299,,,,,primary basilar invagination,MONDO:0007188,,MeSH ID:C566226,,,,OMIM ID:109500 +BMGC_DS12078,BMG_DS040718,"Ovalocytosis, Malaysian-Melanesian-Filipino Type",UMLS ID:C1862322,,,,,southeast Asian ovalocytosis,MONDO:0008165,,MeSH ID:C566231,,,,OMIM ID:166900 +BMGC_DS12079,BMG_DS040721,Axial osteomalacia,UMLS ID:C1862372,,,,,axial osteomalacia,MONDO:0007181,,MeSH ID:C537791,axial osteomalacia,DOID:0080039,,OMIM ID:109130 +BMGC_DS12080,BMG_DS040722,"Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities",UMLS ID:C1862373,,,,,"Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities",MONDO:0007180,,MeSH ID:C566234,,,,OMIM ID:109120 +BMGC_DS12081,BMG_DS040723,Aurocephalosyndactyly,UMLS ID:C1862380,,,,,aurocephalosyndactyly,MONDO:0007178,,MeSH ID:C566235,,,,OMIM ID:109050 +BMGC_DS12082,BMG_DS040724,Auriculoosteodysplasia,UMLS ID:C1862381,,,,,auriculoosteodysplasia,MONDO:0007177,,MeSH ID:C538271,,,,OMIM ID:109000 +BMGC_DS12083,BMG_DS040725,SVEINSSON CHORIORETINAL ATROPHY,UMLS ID:C1862382,,,,,helicoid peripapillary chorioretinal degeneration,MONDO:0007176,,,Sveinsson chorioretinal atrophy,DOID:0111228,,OMIM ID:108985 | OMIM ID:189967 +BMGC_DS12084,BMG_DS040726,Atrial Tachyarrhythmia with Short PR Interval,UMLS ID:C1862387,,,,,Lown-Ganong-Levine syndrome,MONDO:0007174,,MeSH ID:C566237,,,,OMIM ID:108950 +BMGC_DS12085,BMG_DS040727,,UMLS ID:C1862389,,,,,atrial septal defect 1,MONDO:0007172,,,,,,OMIM ID:108800 +BMGC_DS12086,BMG_DS040728,"Atrial Fibrillation, Familial, 4",UMLS ID:C1862394,,,,,"atrial fibrillation, familial, 4",MONDO:0012677,,MeSH ID:C566244,,,,OMIM ID:611493 +BMGC_DS12087,BMG_DS040729,Ataxia with Fasciculations,UMLS ID:C1862440,,,,,ataxia with fasciculations,MONDO:0007166,,MeSH ID:C566246,,,,OMIM ID:108700 +BMGC_DS12088,BMG_DS040730,"Ataxia, Spastic, with Congenital Miosis",UMLS ID:C1862441,,,,,spastic ataxia 7,MONDO:0007165,,MeSH ID:C566247,,,,OMIM ID:108650 +BMGC_DS12089,BMG_DS040732,,UMLS ID:C1862459,,,,,spermatogenic failure 2,MONDO:0007161,,,,,,OMIM ID:108420 +BMGC_DS12090,BMG_DS040735,Arthrogryposis-like hand anomaly and sensorineural deafness,UMLS ID:C1862471,,,,,arthrogryposis-like hand anomaly-sensorineural deafness syndrome,MONDO:0007159,,MeSH ID:C535386,distal arthrogryposis type 6,DOID:0111609,,OMIM ID:108200 +BMGC_DS12091,BMG_DS040736,Oculomelic amyoplasia,UMLS ID:C1862472,Distal arthrogryposis type 5 (disorder) | Distal arthrogryposis type 5 | Arthrogryposis with oculomotor limitation and electroretinal anomaly | Distal arthrogryposis with ophthalmoplegia | Oculomelic amyoplasia,SNOMEDCT ID:715217004,,,arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,MONDO:0007158,,MeSH ID:C537737,distal arthrogryposis type 5,DOID:0111608,,OMIM ID:108145 +BMGC_DS12092,BMG_DS040738,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 1",UMLS ID:C1862511,,,,,arrhythmogenic right ventricular dysplasia 1,MONDO:0007152,,MeSH ID:C566254,,,,OMIM ID:107970 +BMGC_DS12093,BMG_DS040740,,UMLS ID:C1862534,,,,,"arms, malformation of",MONDO:0007151,,,,,,OMIM ID:107900 +BMGC_DS12094,BMG_DS040748,,UMLS ID:C1862591,,,,,"coronary artery disease, severe, susceptibility to",MONDO:0800425,,,,,, +BMGC_DS12095,BMG_DS040749,Familial hypobetalipoproteinemia,UMLS ID:C1862596,Familial hypobetalipoproteinemia | Familial hypobetalipoproteinaemia | Familial hypobetalipoproteinemia (disorder),SNOMEDCT ID:60193003,,,,,,,,,, +BMGC_DS12096,BMG_DS040750,,UMLS ID:C1862632,,,,,"appendicitis, proneness to",MONDO:0007148,,,,,,OMIM ID:107700 +BMGC_DS12097,BMG_DS040751,"Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma",UMLS ID:C1862681,,,,,"aortic arch interruption, facial palsy, and retinal coloboma",MONDO:0007144,,MeSH ID:C566271,,,,OMIM ID:107550 +BMGC_DS12098,BMG_DS040752,Aortic arch anomaly with peculiar facies and mental retardation,UMLS ID:C1862682,,,,,aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,MONDO:0007143,,MeSH ID:C537785,,,,OMIM ID:107500 +BMGC_DS12099,BMG_DS040753,Townes-Brocks-Branchiootorenal-Like Syndrome,UMLS ID:C1862683,,,,,,,,MeSH ID:C566272,,,, +BMGC_DS12100,BMG_DS040754,,UMLS ID:C1862839,,,,,anterior segment dysgenesis,MONDO:0019503,,,,,, +BMGC_DS12101,BMG_DS040756,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges,UMLS ID:C1862841,,,,,Cooks syndrome,MONDO:0007134,,MeSH ID:C537766,,,,OMIM ID:106995 +BMGC_DS12102,BMG_DS040758,Anonychia-Ectrodactyly,UMLS ID:C1862843,,,,,anonychia-ectrodactyly,MONDO:0007132,,MeSH ID:C566277,,,,OMIM ID:106900 +BMGC_DS12103,BMG_DS040759,Anonychia with Flexural Pigmentation,UMLS ID:C1862844,,,,,anonychia with flexural pigmentation,MONDO:0007131,,MeSH ID:C566278,,,,OMIM ID:106750 +BMGC_DS12104,BMG_DS040760,,UMLS ID:C1862852,,,,,"spondyloarthropathy, susceptibility to, 1",MONDO:0007126,,,,,,OMIM ID:106300 +BMGC_DS12105,BMG_DS040761,,UMLS ID:C1862866,,,,,ankyloblepharon filiforme adnatum-cleft palate syndrome,MONDO:0007123,,,,,,OMIM ID:106250 +BMGC_DS12106,BMG_DS040762,"Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract",UMLS ID:C1862867,,,,,"aniridia, microcornea, and spontaneously Reabsorbed cataract",MONDO:0007121,,MeSH ID:C566280,,,,OMIM ID:106230 +BMGC_DS12107,BMG_DS040763,Aniridia and Absent Patella,UMLS ID:C1862868,,,,,aniridia-absent patella syndrome,MONDO:0007120,,MeSH ID:C566281,,,,OMIM ID:106220 +BMGC_DS12108,BMG_DS040764,Hereditary Angioedema Type II,UMLS ID:C1862892,,,,,,,Hereditary Angioedema Types I and II,MeSH ID:D056829,,,, +BMGC_DS12109,BMG_DS040767,"Aneurysm, Intracranial Berry, 1",UMLS ID:C1862932,,,,,"aneurysm, intracranial berry type 1",MONDO:0007111,,MeSH ID:C566284,,,,OMIM ID:105800 +BMGC_DS12110,BMG_DS040771,AMYOTROPHIC LATERAL SCLEROSIS 1,UMLS ID:C1862939,,,,,amyotrophic lateral sclerosis type 1,MONDO:0007103,,,,,,OMIM ID:105400 | OMIM ID:147450 +BMGC_DS12111,BMG_DS040773,"Amyotrophic Lateral Sclerosis, Sporadic",UMLS ID:C1862941,,,,,sporadic amyotrophic lateral sclerosis,MONDO:0005145,,MeSH ID:C531617,,,, +BMGC_DS12112,BMG_DS040774,Amyotrophic Dystonic Paraplegia,UMLS ID:C1862956,,,,,amyotrophic dystonic paraplegia,MONDO:0007102,,MeSH ID:C566292,,,,OMIM ID:105300 +BMGC_DS12113,BMG_DS040776,"Amelogenesis Imperfecta, Type IV",UMLS ID:C1863012,,,,,hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,MONDO:0007093,,MeSH ID:C566293,,,,OMIM ID:104510 +BMGC_DS12114,BMG_DS040777,Amelia and Terminal Transverse Hemimelia,UMLS ID:C1863014,,,,,amelia and terminal transverse hemimelia,MONDO:0007091,,MeSH ID:C566294,,,,OMIM ID:104400 +BMGC_DS12115,BMG_DS040778,"Amastia, Bilateral, With Ureteral Triplication And Dysmorphism",UMLS ID:C1863015,,,,,"amastia, bilateral, with ureteral triplication and dysmorphism",MONDO:0007090,,MeSH ID:C566295,,,,OMIM ID:104350 +BMGC_DS12116,BMG_DS040779,ALZHEIMER DISEASE 2,UMLS ID:C1863051,,,,,Alzheimer disease 2,MONDO:0007089,,,,,,OMIM ID:104310 +BMGC_DS12117,BMG_DS040780,"ALZHEIMER DISEASE, FAMILIAL, 1",UMLS ID:C1863052,,,,,Alzheimer disease type 1,MONDO:0007088,,,Alzheimer's disease 1,DOID:0080348,,OMIM ID:104300 | OMIM ID:104760 +BMGC_DS12118,BMG_DS040782,alpha-Fetoprotein Deficiency,UMLS ID:C1863081,,,,,obsolete congenital deficiency in alpha-fetoprotein,MONDO:0014424,,MeSH ID:C566300,,,,OMIM ID:615969 +BMGC_DS12119,BMG_DS040784,"Alopecia, Familial Focal",UMLS ID:C1863092,,,,,familial focal alopecia,MONDO:0007084,,MeSH ID:C566301,,,,OMIM ID:104110 +BMGC_DS12120,BMG_DS040785,Alopecia congenita keratosis palmoplantaris,UMLS ID:C1863093,,,,,alopecia congenita keratosis palmoplantaris,MONDO:0022417,,MeSH ID:C537050,palmoplantar keratoderma and congenital alopecia 1,DOID:0111244,, +BMGC_DS12121,BMG_DS040786,ALOPECIA AREATA 1,UMLS ID:C1863094,,,,,alopecia areata 1,MONDO:0007082,,,,,,OMIM ID:104000 +BMGC_DS12122,BMG_DS040787,Dysalbuminemic Hyperthyroxinemia,UMLS ID:C1863119,,,,,,,,MeSH ID:C566305,,,, +BMGC_DS12123,BMG_DS040789,Hypoglossia-Hypodactylia,UMLS ID:C1863203,,,,,Hypoglossia-hypodactyly syndrome,MONDO:0007073,,MeSH ID:C566308,,,,OMIM ID:103300 +BMGC_DS12124,BMG_DS040790,ADULT SYNDROME,UMLS ID:C1863204,,,,,ADULT syndrome,MONDO:0007072,,,ADULT syndrome,DOID:0050601,,OMIM ID:103285 | OMIM ID:603273 +BMGC_DS12125,BMG_DS040791,"Adenosine Triphosphate, Elevated, Of Erythrocytes",UMLS ID:C1863224,,,,,pyruvate kinase hyperactivity,MONDO:0007067,,MeSH ID:C566310,,,,OMIM ID:102900 +BMGC_DS12126,BMG_DS040793,"Adenosine Deaminase, Elevated, Hemolytic Anemia Due To",UMLS ID:C1863235,,,,,hemolytic anemia due to erythrocyte adenosine deaminase overproduction,MONDO:0020458,,MeSH ID:C566314,,,,OMIM ID:301083 | OMIM ID:102730 +BMGC_DS12127,BMG_DS040794,,UMLS ID:C1863236,,,,,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency",MONDO:0007064,,,,,,OMIM ID:102700 +BMGC_DS12128,BMG_DS040795,Partial adenosine deaminase deficiency,UMLS ID:C1863239,,,,,,,,MeSH ID:C531816,,,, +BMGC_DS12129,BMG_DS040796,"Acropectorovertebral Dysplasia, F-Form",UMLS ID:C1863307,,,,,Acropectorovertebral dysplasia,MONDO:0007058,,MeSH ID:C566319,,,,OMIM ID:102510 +BMGC_DS12130,BMG_DS040797,"Acroleukopathy, Symmetric",UMLS ID:C1863342,,,,,"acroleukopathy, symmetric",MONDO:0007049,,MeSH ID:C566322,,,,OMIM ID:102000 +BMGC_DS12131,BMG_DS040798,"Acrokeratoderma, Hereditary Papulotranslucent",UMLS ID:C1863343,,,,,hereditary papulotranslucent acrokeratoderma,MONDO:0007046,,MeSH ID:C566323,hereditary papulotranslucent acrokeratoderma,DOID:0060360,,OMIM ID:101840 +BMGC_DS12132,BMG_DS040799,Saethre-Chotzen Syndrome with Eyelid Anomalies,UMLS ID:C1863370,,,,,,,,MeSH ID:C566325,,,, +BMGC_DS12133,BMG_DS040800,Apert-Crouzon Disease,UMLS ID:C1863389,,,,,,,Acrocephalosyndactylia,MeSH ID:D000168,,,, +BMGC_DS12134,BMG_DS040802,Autosomal dominant compelling helio ophthalmic outburst syndrome,UMLS ID:C1863416,,,,,Achoo syndrome,MONDO:0007038,,MeSH ID:C535300,,,,OMIM ID:100820 +BMGC_DS12135,BMG_DS040803,"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE",UMLS ID:C1863512,,,,,"hypercholesterolemia, familial, 4",MONDO:0011374,,,,,,OMIM ID:603813 +BMGC_DS12136,BMG_DS040807,Stargardt disease 4,UMLS ID:C1863534,,,,,Stargardt disease 4,MONDO:0011370,,MeSH ID:C535521,,,,OMIM ID:603786 +BMGC_DS12137,BMG_DS040808,"HYPERCHOLESTEROLEMIA, FAMILIAL, 3",UMLS ID:C1863551,,,,,"hypercholesterolemia, autosomal dominant, 3",MONDO:0011369,,,,,,OMIM ID:603776 | OMIM ID:607786 +BMGC_DS12138,BMG_DS040810,Young Simpson syndrome,UMLS ID:C1863557,,,,,"blepharophimosis - intellectual disability syndrome, SBBYS type",MONDO:0011365,,MeSH ID:C536717,"Ohdo syndrome, SBBYS variant",DOID:0060290,,OMIM ID:603736 +BMGC_DS12139,BMG_DS040811,"Deafness, Autosomal Recessive 16",UMLS ID:C1863561,,,,,autosomal recessive nonsyndromic hearing loss 16,MONDO:0011364,,MeSH ID:C566339,,,,OMIM ID:603720 +BMGC_DS12140,BMG_DS040813,Hereditary Myopathy with Early Respiratory Failure,UMLS ID:C1863599,,,,,"myopathy, myofibrillar, 9, with early respiratory failure",MONDO:0011362,,MeSH ID:C566343,,,,OMIM ID:607569 | OMIM ID:603689 +BMGC_DS12141,BMG_DS040814,,UMLS ID:C1863600,,,,,prostate cancer/brain cancer susceptibility,MONDO:0011361,,,,,,OMIM ID:603688 +BMGC_DS12142,BMG_DS040815,"DEAFNESS, AUTOSOMAL RECESSIVE 14",UMLS ID:C1863613,,,,,autosomal recessive nonsyndromic hearing loss 14,MONDO:0011360,,,,,,OMIM ID:603678 +BMGC_DS12143,BMG_DS040816,ACROMELIC FRONTONASAL DYSOSTOSIS,UMLS ID:C1863616,,,,,acromelic frontonasal dysostosis,MONDO:0011359,,,,,,OMIM ID:603671 | OMIM ID:615951 +BMGC_DS12144,BMG_DS040822,Cone-Rod Dystrophy 7,UMLS ID:C1863634,,,,,cone-rod dystrophy 7,MONDO:0011355,,MeSH ID:C566350,cone-rod dystrophy 7,DOID:0111012,,OMIM ID:603649 +BMGC_DS12145,BMG_DS040826,"Deafness, Autosomal Recessive 21",UMLS ID:C1863655,,,,,autosomal recessive nonsyndromic hearing loss 21,MONDO:0011351,,MeSH ID:C566353,,,,OMIM ID:603629 +BMGC_DS12146,BMG_DS040827,"DEAFNESS, AUTOSOMAL DOMINANT 17",UMLS ID:C1863659,,,,,autosomal dominant nonsyndromic hearing loss 17,MONDO:0011350,,,,,,OMIM ID:160775 | OMIM ID:603622 +BMGC_DS12147,BMG_DS040829,Craniosynostosis with Ectopia Lentis,UMLS ID:C1863678,,,,,craniosynostosis with ectopia lentis,MONDO:0011347,,MeSH ID:C566357,,,,OMIM ID:603595 +BMGC_DS12148,BMG_DS040830,"Xanthinuria, Type II",UMLS ID:C1863688,,,,,xanthinuria type II,MONDO:0011346,,MeSH ID:C566358,xanthinuria type II,DOID:0070453,,OMIM ID:603592 +BMGC_DS12149,BMG_DS040834,"Spastic paraplegia 8, autosomal dominant",UMLS ID:C1863704,,,,,hereditary spastic paraplegia 8,MONDO:0011339,,MeSH ID:C580458,,,,OMIM ID:603563 +BMGC_DS12150,BMG_DS040835,"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2",UMLS ID:C1863727,,,,,familial hemophagocytic lymphohistiocytosis 2,MONDO:0011337,,,familial hemophagocytic lymphohistiocytosis 2,DOID:0110922,,OMIM ID:170280 | OMIM ID:603553 +BMGC_DS12151,BMG_DS040836,"Hemophagocytic lymphohistiocytosis, familial, 4",UMLS ID:C1863728,,,,,familial hemophagocytic lymphohistiocytosis 4,MONDO:0011336,,MeSH ID:C537252,,,,OMIM ID:603552 +BMGC_DS12152,BMG_DS040837,Spondyloepimetaphyseal dysplasia with multiple dislocations,UMLS ID:C1863732,Spondyloepimetaphyseal dysplasia with multiple dislocations | Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) | Spondyloepimetaphyseal dysplasia with joint laxity type 2 | Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type | Spondyloepimetaphyseal dysplasia with joint laxity Hall type | Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type,SNOMEDCT ID:766820007,,,spondyloepimetaphyseal dysplasia with multiple dislocations,MONDO:0011335,,MeSH ID:C535784,,,,OMIM ID:603546 +BMGC_DS12153,BMG_DS040838,,UMLS ID:C1863752,,,,,enlarged vestibular aqueduct syndrome,MONDO:0023069,,,,,, +BMGC_DS12154,BMG_DS040839,LIMB-MAMMARY SYNDROME,UMLS ID:C1863753,,,,,limb-mammary syndrome,MONDO:0011334,,,,,,OMIM ID:603273 | OMIM ID:603543 +BMGC_DS12155,BMG_DS040842,"Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",UMLS ID:C1863769,,,,,,,,MeSH ID:C566369,,,, +BMGC_DS12156,BMG_DS040843,Neuronal intranuclear inclusion disease,UMLS ID:C1863843,Neuronal intranuclear inclusion disease (disorder) | Neuronal intranuclear inclusion disease,SNOMEDCT ID:715437003,,,neuronal intranuclear inclusion disease,MONDO:0011327,,MeSH ID:C537395,,,,OMIM ID:603472 +BMGC_DS12157,BMG_DS040844,Adult-onset citrullinemia type 2,UMLS ID:C1863844,,,,,citrullinemia type II,MONDO:0016603,,MeSH ID:C538053,,,, +BMGC_DS12158,BMG_DS040846,Coloboma of superior eyelid,UMLS ID:C1863872,Coloboma of superior eyelid | Coloboma of upper eyelid | Coloboma of superior eyelid (disorder) | Superior palpebral coloboma,SNOMEDCT ID:763132003,,,coloboma of superior eyelid,MONDO:0015480,,,,,, +BMGC_DS12159,BMG_DS040847,"Arhinia, choanal atresia, and microphthalmia",UMLS ID:C1863878,,,,,"arhinia, choanal atresia, and microphthalmia",MONDO:0011323,,MeSH ID:C537429,,,,OMIM ID:603457 +BMGC_DS12160,BMG_DS040850,,UMLS ID:C1863881,,,,,radioulnar synostosis-microcephaly-scoliosis syndrome,MONDO:0011320,,,,,,OMIM ID:603438 +BMGC_DS12161,BMG_DS040857,Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome,UMLS ID:C1863924,,,,,,,,MeSH ID:C566381,,,, +BMGC_DS12162,BMG_DS040859,"Glaucoma 1, Open Angle, F",UMLS ID:C1863926,,,,,"obsolete glaucoma 1, open angle, F",MONDO:0011311,,MeSH ID:C566383,,,,OMIM ID:603383 +BMGC_DS12163,BMG_DS040860,,UMLS ID:C1863958,,,,,"long chain fatty acids, defect in transport of",MONDO:0011310,,,,,,OMIM ID:603376 +BMGC_DS12164,BMG_DS040861,"Hyperthyroidism, Familial Gestational",UMLS ID:C1863959,,,,,familial gestational hyperthyroidism,MONDO:0011309,,MeSH ID:C566384,,,,OMIM ID:603373 +BMGC_DS12165,BMG_DS040864,Finnish lethal neonatal metabolic syndrome,UMLS ID:C1864002,"Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death | Fellman syndrome | Finnish lethal neonatal metabolic syndrome | GRACILE syndrome | Finnish lactic acidosis with hepatic hemosiderosis | Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder)",SNOMEDCT ID:703388005,,,GRACILE syndrome,MONDO:0011308,,MeSH ID:C537934,GRACILE syndrome,DOID:0111455,,OMIM ID:603358 +BMGC_DS12166,BMG_DS040865,SCHIZOPHRENIA 2,UMLS ID:C1864010,,,,,schizophrenia 2,MONDO:0011307,,,schizophrenia 2,DOID:0070078,,OMIM ID:603342 +BMGC_DS12167,BMG_DS040867,Cerebral Cavernous Malformations 3,UMLS ID:C1864040,,,,,cerebral cavernous malformation 3,MONDO:0011305,,MeSH ID:C566393,,,,OMIM ID:603285 +BMGC_DS12168,BMG_DS040868,CEREBRAL CAVERNOUS MALFORMATIONS 2,UMLS ID:C1864041,,,,,cerebral cavernous malformation 2,MONDO:0011304,,,,,,OMIM ID:603284 | OMIM ID:607929 +BMGC_DS12169,BMG_DS040869,"DIABETES MELLITUS, INSULIN-DEPENDENT, 17",UMLS ID:C1864068,,,,,type 1 diabetes mellitus 17,MONDO:0011302,,,,,,OMIM ID:603266 +BMGC_DS12170,BMG_DS040870,"PSEUDOHYPOPARATHYROIDISM, TYPE IB",UMLS ID:C1864100,,,,,pseudohypoparathyroidism type 1B,MONDO:0011301,,,pseudohypoparathyroidism type 1B,DOID:0080222,,OMIM ID:603233 | OMIM ID:610540 | OMIM ID:139320 | OMIM ID:603666 +BMGC_DS12171,BMG_DS040871,Myopia 3,UMLS ID:C1864111,,,,,"myopia 3, autosomal dominant",MONDO:0011300,,MeSH ID:C566397,,,,OMIM ID:603221 +BMGC_DS12172,BMG_DS040872,HUNTINGTON DISEASE-LIKE 1,UMLS ID:C1864112,,,,,Huntington disease-like 1,MONDO:0011299,,,,,,OMIM ID:603218 | OMIM ID:176640 +BMGC_DS12173,BMG_DS040874,"Epilepsy, Nocturnal Frontal Lobe, Type 2",UMLS ID:C1864125,,,,,autosomal dominant nocturnal frontal lobe epilepsy 2,MONDO:0011297,,MeSH ID:C566400,,,,OMIM ID:603204 +BMGC_DS12174,BMG_DS040875,"MECKEL SYNDROME, TYPE 2",UMLS ID:C1864148,,,,,"Meckel syndrome, type 2",MONDO:0011296,,,,,,OMIM ID:603194 | OMIM ID:613277 +BMGC_DS12175,BMG_DS040878,"Dermatitis, Atopic, 1",UMLS ID:C1864155,,,,,,,,MeSH ID:C566404,,,, +BMGC_DS12176,BMG_DS040884,CDAGS SYNDROME,UMLS ID:C1864186,,,,,craniosynostosis-anal anomalies-porokeratosis syndrome,MONDO:0011287,,,,,,OMIM ID:603116 | OMIM ID:620204 +BMGC_DS12177,BMG_DS040885,"DEAFNESS, AUTOSOMAL RECESSIVE 13",UMLS ID:C1864199,,,,,autosomal recessive nonsyndromic hearing loss 13,MONDO:0011286,,,,,,OMIM ID:603098 +BMGC_DS12178,BMG_DS040886,"Macular Degeneration, Age-Related, 1",UMLS ID:C1864205,,,,,age related macular degeneration 1,MONDO:0011285,,MeSH ID:C566411,,,,OMIM ID:603075 +BMGC_DS12179,BMG_DS040888,Endplate Acetylcholinesterase Deficiency,UMLS ID:C1864233,,,,,congenital myasthenic syndrome 5,MONDO:0011281,,MeSH ID:C566415,,,,OMIM ID:603034 +BMGC_DS12180,BMG_DS040890,SCHIZOPHRENIA 6,UMLS ID:C1864275,,,,,schizophrenia 6,MONDO:0011280,,,schizophrenia 6,DOID:0070082,,OMIM ID:603013 +BMGC_DS12181,BMG_DS040891,"Deafness, Autosomal Recessive 17",UMLS ID:C1864276,,,,,autosomal recessive nonsyndromic hearing loss 17,MONDO:0011279,,MeSH ID:C566418,,,,OMIM ID:603010 +BMGC_DS12182,BMG_DS040893,"ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",UMLS ID:C1864356,,,,,"acromesomelic dysplasia 1, Maroteaux type",MONDO:0011275,,,,,,OMIM ID:602875 +BMGC_DS12183,BMG_DS040894,PREMATURE CHROMATID SEPARATION TRAIT,UMLS ID:C1864389,,,,,premature chromatid separation trait,MONDO:0008304,,,,,,OMIM ID:602860 | OMIM ID:176430 +BMGC_DS12184,BMG_DS040895,"Peroxisome Biogenesis Disorder, Complementation Group 7",UMLS ID:C1864399,,,,,,,,MeSH ID:C566422,,,, +BMGC_DS12185,BMG_DS040896,Muenke Syndrome,UMLS ID:C1864436,,,,,Muenke syndrome,MONDO:0011274,,MeSH ID:C537369,Muenke Syndrome,DOID:0060703,,OMIM ID:602849 +BMGC_DS12186,BMG_DS040897,Histiocytosis with joint contractures and sensorineural deafness,UMLS ID:C1864445,,,,,H syndrome,MONDO:0011273,,MeSH ID:C538322,,,,OMIM ID:602782 +BMGC_DS12187,BMG_DS040898,Retinitis Pigmentosa 25,UMLS ID:C1864446,,,,,retinitis pigmentosa 25,MONDO:0011272,,MeSH ID:C566425,retinitis pigmentosa 25,DOID:0110384,,OMIM ID:602772 +BMGC_DS12188,BMG_DS040900,PSORIASIS 2,UMLS ID:C1864497,,,,,psoriasis 2,MONDO:0011269,,,psoriasis 2,DOID:0080475,,OMIM ID:602723 | OMIM ID:607211 +BMGC_DS12189,BMG_DS040901,,UMLS ID:C1864498,,,,,autosomal recessive distal renal tubular acidosis,MONDO:0018440,,,,,, +BMGC_DS12190,BMG_DS040904,"Cataract, posterior polar, 4",UMLS ID:C1864567,,,,,cataract 11 multiple types,MONDO:0012527,,MeSH ID:C535344,,,,OMIM ID:610623 +BMGC_DS12191,BMG_DS040905,RETINITIS PIGMENTOSA 36,UMLS ID:C1864621,,,,,retinitis pigmentosa 36,MONDO:0012523,,,,,,OMIM ID:610598 | OMIM ID:610599 +BMGC_DS12192,BMG_DS040906,"Diabetes Mellitus, Transient Neonatal, 3",UMLS ID:C1864623,,,,,"diabetes mellitus, transient neonatal, 3",MONDO:0012522,,MeSH ID:C566432,,,,OMIM ID:610582 +BMGC_DS12193,BMG_DS040907,"CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL",UMLS ID:C1864648,,,,,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,MONDO:0012519,,,,,,OMIM ID:610543 +BMGC_DS12194,BMG_DS040909,"GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",UMLS ID:C1864651,,,,,Gaucher disease due to saposin C deficiency,MONDO:0012517,,,,,,OMIM ID:176801 | OMIM ID:610539 +BMGC_DS12195,BMG_DS040910,"Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate",UMLS ID:C1864652,,,,,mandibulofacial dysostosis-microcephaly syndrome,MONDO:0012516,,MeSH ID:C537405,,,,OMIM ID:610536 +BMGC_DS12196,BMG_DS040911,"Glaucoma 1, Open Angle, M",UMLS ID:C1864653,,,,,"glaucoma 1, open angle, M",MONDO:0012515,,MeSH ID:C566436,,,,OMIM ID:610535 +BMGC_DS12197,BMG_DS040912,,UMLS ID:C1864663,,,,,hypomyelinating leukodystrophy 5,MONDO:0012514,,,,,,OMIM ID:610532 +BMGC_DS12198,BMG_DS040913,"Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4",UMLS ID:C1864668,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4",MONDO:0012415,,MeSH ID:C566437,,,,OMIM ID:610131 +BMGC_DS12199,BMG_DS040914,NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY,UMLS ID:C1864669,,,,,neuronal ceroid lipofuscinosis 10,MONDO:0012414,,,,,,OMIM ID:610127 +BMGC_DS12200,BMG_DS040915,"Neuronal Ceroid Lipofuscinosis, Congenital",UMLS ID:C1864670,,,,,congenital neuronal ceroid lipofuscinosis,MONDO:0850001,,MeSH ID:C566438,,,, +BMGC_DS12201,BMG_DS040916,"Microphthalmia, Syndromic 6",UMLS ID:C1864689,,,,,microphthalmia with brain and digit anomalies,MONDO:0011936,,MeSH ID:C566440,syndromic microphthalmia 6,DOID:0111805,,OMIM ID:607932 +BMGC_DS12202,BMG_DS040917,"Microphthalmia, Syndromic 5",UMLS ID:C1864690,,,,,syndromic microphthalmia type 5,MONDO:0012413,,MeSH ID:C566441,syndromic microphthalmia 5,DOID:0111806,,OMIM ID:610125 +BMGC_DS12203,BMG_DS040918,Complement Component 7 Deficiency,UMLS ID:C1864694,,,,,complement component 7 deficiency,MONDO:0012412,,MeSH ID:C566443,complement component 7 deficiency,DOID:0060300,,OMIM ID:610102 +BMGC_DS12204,BMG_DS040919,"Giant Axonal Neuropathy, Autosomal Dominant",UMLS ID:C1864695,,,,,giant axonal neuropathy 2,MONDO:0012411,,MeSH ID:C566444,,,,OMIM ID:610100 +BMGC_DS12205,BMG_DS040920,"Myopathy, Distal 3",UMLS ID:C1864706,,,,,Finnish upper limb-onset distal myopathy,MONDO:0012410,,MeSH ID:C566445,,,,OMIM ID:610099 +BMGC_DS12206,BMG_DS040921,"MICROPHTHALMIA, ISOLATED 2",UMLS ID:C1864720,,,,,isolated microphthalmia 2,MONDO:0012409,,,,,,OMIM ID:610093 | OMIM ID:142993 +BMGC_DS12207,BMG_DS040922,"Microphthalmia, Isolated, with Coloboma 3",UMLS ID:C1864721,,,,,"microphthalmia, isolated, with coloboma 3",MONDO:0012408,,MeSH ID:C566447,,,,OMIM ID:610092 +BMGC_DS12208,BMG_DS040923,"Microphthalmia, Cataracts, and Iris Abnormalities",UMLS ID:C1864722,,,,,,,,MeSH ID:C566448,,,, +BMGC_DS12209,BMG_DS040924,Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency,UMLS ID:C1864723,,,,,pyridoxal phosphate-responsive seizures,MONDO:0012407,,MeSH ID:C566449,pyridoxamine 5'-phosphate oxidase deficiency,DOID:0111329,,OMIM ID:610090 +BMGC_DS12210,BMG_DS040926,"Polyposis Syndrome, Hereditary Mixed, 2",UMLS ID:C1864730,,,,,"polyposis syndrome, hereditary mixed, 2",MONDO:0012405,,MeSH ID:C566451,,,,OMIM ID:610069 +BMGC_DS12211,BMG_DS040929,,UMLS ID:C1864733,,,,,"opioid dependence, susceptibility to, 1",MONDO:0012402,,,,,,OMIM ID:610064 +BMGC_DS12212,BMG_DS040930,"Corneal Dystrophy, Congenital Stromal",UMLS ID:C1864738,,,,,congenital stromal corneal dystrophy,MONDO:0012401,,MeSH ID:C566452,congenital stromal corneal dystrophy,DOID:0060445,,OMIM ID:610048 +BMGC_DS12213,BMG_DS040931,"Deafness, Autosomal Recessive 53",UMLS ID:C1864746,,,,,autosomal recessive nonsyndromic hearing loss 53,MONDO:0012333,,MeSH ID:C566453,,,,OMIM ID:609706 +BMGC_DS12214,BMG_DS040935,Short Stature And Facioauriculothoracic Malformations,UMLS ID:C1864791,,,,,short stature and Facioauriculothoracic malformations,MONDO:0012329,,MeSH ID:C566457,,,,OMIM ID:609654 +BMGC_DS12215,BMG_DS040936,TRICHILEMMAL CYST 1,UMLS ID:C1864801,,,,,,,,,,,,OMIM ID:609649 +BMGC_DS12216,BMG_DS040937,"Deafness, Autosomal Recessive 46",UMLS ID:C1864815,,,,,autosomal recessive nonsyndromic hearing loss 46,MONDO:0012327,,MeSH ID:C566459,,,,OMIM ID:609647 +BMGC_DS12217,BMG_DS040938,"Deafness, Autosomal Recessive 42",UMLS ID:C1864818,,,,,autosomal recessive nonsyndromic hearing loss 42,MONDO:0012326,,MeSH ID:C566460,,,,OMIM ID:609646 +BMGC_DS12218,BMG_DS040940,Frias syndrome,UMLS ID:C1864825,,,,,Frias syndrome,MONDO:0012324,,MeSH ID:C535639,,,,OMIM ID:609640 +BMGC_DS12219,BMG_DS040941,"Epidermolysis bullosa, lethal acantholytic",UMLS ID:C1864826,,,,,lethal acantholytic epidermolysis bullosa,MONDO:0012323,,MeSH ID:C535493,,,,OMIM ID:609638 +BMGC_DS12220,BMG_DS040942,HOLOPROSENCEPHALY 5,UMLS ID:C1864827,,,,,holoprosencephaly 5,MONDO:0012322,,,,,,OMIM ID:609637 | OMIM ID:603073 +BMGC_DS12221,BMG_DS040943,ALZHEIMER DISEASE 10,UMLS ID:C1864828,,,,,Alzheimer disease 10,MONDO:0012321,,,,,,OMIM ID:609636 +BMGC_DS12222,BMG_DS040944,,UMLS ID:C1864839,,,,,maturity-onset diabetes of the young type 7,MONDO:0012513,,,,,,OMIM ID:610508 +BMGC_DS12223,BMG_DS040945,Combined Oxidative Phosphorylation Deficiency 3,UMLS ID:C1864840,,,,,fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,MONDO:0012512,,MeSH ID:C566467,combined oxidative phosphorylation deficiency 3,DOID:0111486,,OMIM ID:610505 +BMGC_DS12224,BMG_DS040946,Combined Oxidative Phosphorylation Deficiency 2,UMLS ID:C1864843,,,,,combined oxidative phosphorylation defect type 2,MONDO:0012510,,MeSH ID:C566468,combined oxidative phosphorylation deficiency 2,DOID:0111483,,OMIM ID:610498 +BMGC_DS12225,BMG_DS040947,"Pigmented Nodular Adrenocortical Disease, Primary, 1",UMLS ID:C1864846,,,,,"pigmented nodular adrenocortical disease, primary, 1",MONDO:0012509,,MeSH ID:C566469,primary pigmented nodular adrenocortical disease 1,DOID:0070546,,OMIM ID:610489 +BMGC_DS12226,BMG_DS040949,RETINAL CONE DYSTROPHY 4,UMLS ID:C1864849,,,,,retinal cone dystrophy 4,MONDO:0012507,,,,,,OMIM ID:608171 | OMIM ID:610478 +BMGC_DS12227,BMG_DS040950,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",UMLS ID:C1864850,,,,,arrhythmogenic right ventricular dysplasia 11,MONDO:0012506,,MeSH ID:C566471,,,,OMIM ID:610476 +BMGC_DS12228,BMG_DS040951,"Pigmented Nodular Adrenocortical Disease, Primary, 2",UMLS ID:C1864851,,,,,"pigmented nodular adrenocortical disease, primary, 2",MONDO:0012505,,MeSH ID:C566472,primary pigmented nodular adrenocortical disease 2,DOID:0070547,,OMIM ID:610475 +BMGC_DS12229,BMG_DS040952,CATSHL syndrome,UMLS ID:C1864852,,,,,camptodactyly-tall stature-scoliosis-hearing loss syndrome,MONDO:0012504,,MeSH ID:C537975,camptodactyly-tall stature-scoliosis-hearing loss syndrome,DOID:0111160,,OMIM ID:610474 +BMGC_DS12230,BMG_DS040953,"Tumoral Calcinosis, Normophosphatemic, Familial",UMLS ID:C1864861,,,,,normophosphatemic familial tumoral calcinosis,MONDO:0012502,,MeSH ID:C566473,,,,OMIM ID:610455 +BMGC_DS12231,BMG_DS040954,,UMLS ID:C1864868,,,,,"Buruli ulcer, susceptibility to",MONDO:0012499,,,,,,OMIM ID:610446 +BMGC_DS12232,BMG_DS040955,"Night Blindness, Congenital Stationary, Autosomal Dominant 1",UMLS ID:C1864869,,,,,congenital stationary night blindness autosomal dominant 1,MONDO:0012498,,MeSH ID:C566474,,,,OMIM ID:610445 +BMGC_DS12233,BMG_DS040956,"Night Blindness, Congenital Stationary, Autosomal Dominant 3",UMLS ID:C1864870,,,,,congenital stationary night blindness autosomal dominant 3,MONDO:0012497,,MeSH ID:C566475,,,,OMIM ID:610444 +BMGC_DS12234,BMG_DS040957,Chromosome 17q21.31 Deletion Syndrome,UMLS ID:C1864871,,,,,Koolen-de Vries syndrome | Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome,MONDO:0018216;MONDO:0012496,,MeSH ID:C566476,,,,OMIM ID:610443 +BMGC_DS12235,BMG_DS040958,"Spondyloepimetaphyseal dysplasia, Genevieve type",UMLS ID:C1864872,,,,,"spondyloepimetaphyseal dysplasia, Genevieve type",MONDO:0012495,,MeSH ID:C535785,"spondyloepimetaphyseal dysplasia, Genevieve-type",DOID:0080576,,OMIM ID:610442 +BMGC_DS12236,BMG_DS040959,Testicular Microlithiasis,UMLS ID:C1864873,,,,,testicular microlithiasis,MONDO:0012494,,MeSH ID:C566478,,,,OMIM ID:610441 +BMGC_DS12237,BMG_DS040963,"Night Blindness, Congenital Stationary, Type 2B",UMLS ID:C1864877,,,,,,,,MeSH ID:C536122,,,, +BMGC_DS12238,BMG_DS040966,,UMLS ID:C1864880,,,,,"hepatitis B virus, susceptibility to",MONDO:0012488,,,,,,OMIM ID:610424 +BMGC_DS12239,BMG_DS040967,Retinal Cone Dystrophy 3A,UMLS ID:C1864900,,,,,retinal cone dystrophy 3A,MONDO:0012398,,MeSH ID:C566483,retinal cone dystrophy 3A,DOID:0081025,,OMIM ID:610024 +BMGC_DS12240,BMG_DS040968,"Brachydactyly, Coloboma, And Anterior Segment Dysgenesis",UMLS ID:C1864901,,,,,"brachydactyly, coloboma, and anterior segment dysgenesis",MONDO:0012397,,MeSH ID:C566484,,,,OMIM ID:610023 +BMGC_DS12241,BMG_DS040969,"Hyperinsulinemic hypoglycemia, familial, 7",UMLS ID:C1864902,,,,,exercise-induced hyperinsulinism,MONDO:0012396,,MeSH ID:C538376,familial hyperinsulinemic hypoglycemia 7,DOID:0070214,,OMIM ID:610021 +BMGC_DS12242,BMG_DS040970,Hyperinsulinemic hypoglycemia,UMLS ID:C1864903,,,,,hyperinsulinemic hypoglycemia,MONDO:0005803,,,,,,OMIM ID:MTHU000368 +BMGC_DS12243,BMG_DS040971,"Cataract, autosomal recessive congenital 2",UMLS ID:C1864908,,,,,cataract 18,MONDO:0012395,,MeSH ID:C535337,,,,OMIM ID:610019 +BMGC_DS12244,BMG_DS040972,"Glutamine deficiency, congenital",UMLS ID:C1864910,,,,,congenital brain dysgenesis due to glutamine synthetase deficiency,MONDO:0012393,,MeSH ID:C536832,,,,OMIM ID:610015 +BMGC_DS12245,BMG_DS040973,2-Methylbutyryl-CoA Dehydrogenase Deficiency,UMLS ID:C1864912,,,,,2-methylbutyryl-CoA dehydrogenase deficiency,MONDO:0012392,,MeSH ID:C566487,,,,OMIM ID:610006 +BMGC_DS12246,BMG_DS040974,Northern epilepsy syndrome,UMLS ID:C1864923,,,,,neuronal ceroid lipofuscinosis 8 northern epilepsy variant,MONDO:0012391,,MeSH ID:C537952,,,,OMIM ID:610003 +BMGC_DS12247,BMG_DS040979,Osteosclerosis with ichthyosis and premature ovarian failure,UMLS ID:C1864942,,,,,osteosclerosis-ichthyosis-premature ovarian failure syndrome,MONDO:0012387,,MeSH ID:C536064,,,,OMIM ID:609993 +BMGC_DS12248,BMG_DS040983,"Natural Killer Cell Deficiency, Familial Isolated",UMLS ID:C1864947,,,,,primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,MONDO:0012383,,MeSH ID:C566492,immunodeficiency 54,DOID:0111967,,OMIM ID:609981 +BMGC_DS12249,BMG_DS040984,"Hyperinsulinemic Hypoglycemia, Familial, 4",UMLS ID:C1864948,,,,,"hyperinsulinemic hypoglycemia, familial, 4",MONDO:0012382,,MeSH ID:C566493,,,,OMIM ID:609975 +BMGC_DS12250,BMG_DS040985,"Hyperinsulinemic Hypoglycemia, Familial, 5",UMLS ID:C1864952,,,,,hyperinsulinism due to INSR deficiency,MONDO:0012381,,MeSH ID:C566494,,,,OMIM ID:609968 +BMGC_DS12251,BMG_DS040986,"Deafness, Autosomal Dominant 53",UMLS ID:C1864957,,,,,autosomal dominant nonsyndromic hearing loss 53,MONDO:0012380,,MeSH ID:C566495,,,,OMIM ID:609965 +BMGC_DS12252,BMG_DS040990,"DEAFNESS, AUTOSOMAL RECESSIVE 55",UMLS ID:C1864962,,,,,autosomal recessive nonsyndromic hearing loss 55,MONDO:0012376,,,,,,OMIM ID:609952 +BMGC_DS12253,BMG_DS040991,"Deafness, Autosomal Recessive 47",UMLS ID:C1864964,,,,,autosomal recessive nonsyndromic hearing loss 47,MONDO:0012375,,MeSH ID:C566498,,,,OMIM ID:609946 +BMGC_DS12254,BMG_DS040992,"Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia",UMLS ID:C1864965,,,,,"brachyphalangy, polydactyly, and tibial aplasia/hypoplasia",MONDO:0012374,,MeSH ID:C537100,,,,OMIM ID:609945 +BMGC_DS12255,BMG_DS040993,"Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features",UMLS ID:C1864966,,,,,"ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features",MONDO:0012373,,MeSH ID:C536182,,,,OMIM ID:609944 +BMGC_DS12256,BMG_DS040994,"DEAFNESS, AUTOSOMAL RECESSIVE 51",UMLS ID:C1864968,,,,,autosomal recessive nonsyndromic hearing loss 51,MONDO:0012370,,,,,,OMIM ID:609941 +BMGC_DS12257,BMG_DS040996,"Migraine, Familial Hemiplegic, 3",UMLS ID:C1864987,,,,,"migraine, familial hemiplegic, 3",MONDO:0012320,,MeSH ID:C566500,,,,OMIM ID:609634 +BMGC_DS12258,BMG_DS040999,"Visceral Neuropathy, Familial, Autosomal Dominant",UMLS ID:C1864996,,,,,"visceral neuropathy, familial, 3, autosomal dominant",MONDO:0012317,,MeSH ID:C566502,,,,OMIM ID:609629 +BMGC_DS12259,BMG_DS041000,Majeed syndrome,UMLS ID:C1864997,"Majeed syndrome | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis | Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis",SNOMEDCT ID:703540008,,,Majeed syndrome,MONDO:0012316,,MeSH ID:C537839,,,ICD10 ID:M04.8,OMIM ID:609628 +BMGC_DS12260,BMG_DS041001,Short QT Syndrome 3,UMLS ID:C1865018,,,,,short QT syndrome type 3,MONDO:0012314,,MeSH ID:C566504,,,,OMIM ID:609622 +BMGC_DS12261,BMG_DS041002,Short QT Syndrome 2,UMLS ID:C1865019,,,,,short QT syndrome type 2,MONDO:0012313,,MeSH ID:C566505,,,,OMIM ID:609621 +BMGC_DS12262,BMG_DS041003,Short QT Syndrome 1,UMLS ID:C1865020,,,,,short QT syndrome type 1,MONDO:0012312,,MeSH ID:C566506,,,,OMIM ID:609620 +BMGC_DS12263,BMG_DS041004,"Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness",UMLS ID:C1865022,,,,,"spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness",MONDO:0012311,,MeSH ID:C566507,,,,OMIM ID:609616 +BMGC_DS12264,BMG_DS041005,"fibrosis of extraocular muscles, congenital, with synergistic divergence",UMLS ID:C1865040,,,,,"fibrosis of extraocular muscles, congenital, with synergistic divergence",MONDO:0012310,,MeSH ID:C566508,,,,OMIM ID:609612 +BMGC_DS12265,BMG_DS041007,PARIETAL FORAMINA 2,UMLS ID:C1865044,,,,,parietal foramina 2,MONDO:0012309,,,,,,OMIM ID:605420 | OMIM ID:609597 +BMGC_DS12266,BMG_DS041008,"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C1865070,,,,,"familial scaphocephaly syndrome, McGillivray type",MONDO:0012307,,,,,,OMIM ID:176943 | OMIM ID:609579 +BMGC_DS12267,BMG_DS041010,"Tooth Agenesis, Selective, 2",UMLS ID:C1865092,,,,,"tooth agenesis, selective, 2",MONDO:0011265,,MeSH ID:C566513,,,,OMIM ID:602639 +BMGC_DS12268,BMG_DS041011,"Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal",UMLS ID:C1865117,,,,,"skeletal dysplasia and progressive central nervous system degeneration, lethal",MONDO:0011263,,MeSH ID:C566514,,,,OMIM ID:602613 +BMGC_DS12269,BMG_DS041015,BRANCHIOOTIC SYNDROME 1,UMLS ID:C1865143,,,,,branchiootic syndrome 1,MONDO:0011258,,,,,,OMIM ID:601653 | OMIM ID:602588 +BMGC_DS12270,BMG_DS041016,Congenital disorder of glycosylation type 1B,UMLS ID:C1865145,,,,,MPI-congenital disorder of glycosylation,MONDO:0011257,,MeSH ID:C535740,,,,OMIM ID:602579 +BMGC_DS12271,BMG_DS041018,Mandibulofacial Dysostosis with Macroblepharon and Macrostomia,UMLS ID:C1865181,,,,,mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,MONDO:0011255,,MeSH ID:C566520,,,,OMIM ID:602562 +BMGC_DS12272,BMG_DS041021,"Spondyloepimetaphyseal Dysplasia, Shohat Type",UMLS ID:C1865185,,,,,"spondyloepimetaphyseal dysplasia, Shohat type",MONDO:0011252,,MeSH ID:C566523,,,,OMIM ID:602557 +BMGC_DS12273,BMG_DS041024,Torsion dystonia with onset in infancy,UMLS ID:C1865205,,,,,torsion dystonia with onset in infancy,MONDO:0011249,,MeSH ID:C536969,torsion dystonia with onset in infancy,DOID:0090058,,OMIM ID:602554 +BMGC_DS12274,BMG_DS041027,"Muscular Dystrophy, Congenital, Megaconial Type",UMLS ID:C1865233,,,,,megaconial type congenital muscular dystrophy,MONDO:0011246,,MeSH ID:C566527,,,,OMIM ID:602541 +BMGC_DS12275,BMG_DS041028,"ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",UMLS ID:C1865234,,,,,"ichthyosis, hystrix-like, with hearing loss",MONDO:0011245,,,,,,OMIM ID:602540 +BMGC_DS12276,BMG_DS041029,"Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly",UMLS ID:C1865267,,,,,grange syndrome,MONDO:0011243,,MeSH ID:C566529,,,,OMIM ID:602531 +BMGC_DS12277,BMG_DS041030,,UMLS ID:C1865270,,,,,Bartter disease type 4A,MONDO:0011242,,,,,,OMIM ID:602522 +BMGC_DS12278,BMG_DS041032,Megalencephaly cutis marmorata telangiectatica congenita,UMLS ID:C1865285,,,,,megalencephaly-capillary malformation-polymicrogyria syndrome,MONDO:0011240,,MeSH ID:C536142,,,,OMIM ID:602501 +BMGC_DS12279,BMG_DS041033,"MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA",UMLS ID:C1865286,,,,,colobomatous macrophthalmia-microcornea syndrome,MONDO:0011239,,,,,,OMIM ID:602499 +BMGC_DS12280,BMG_DS041034,"HYPERLIPIDEMIA, COMBINED, 1",UMLS ID:C1865289,,,,,"hyperlipidemia, combined, 1",MONDO:0011237,,,,,,OMIM ID:602491 +BMGC_DS12281,BMG_DS041035,"Hyperinsulinemic hypoglycemia, familial, 3",UMLS ID:C1865290,,,,,hyperinsulinism due to glucokinase deficiency,MONDO:0011236,,MeSH ID:C538374,,,,OMIM ID:602485 +BMGC_DS12282,BMG_DS041037,Pelvic dysplasia arthrogryposis of lower limbs,UMLS ID:C1865294,,,,,pelvic dysplasia-arthrogryposis of lower limbs syndrome,MONDO:0011235,,MeSH ID:C535548,,,,OMIM ID:602484 +BMGC_DS12283,BMG_DS041038,Auriculo-condylar syndrome,UMLS ID:C1865295,Auriculo-condylar syndrome | Question-mark ear syndrome | Auriculo-condylar syndrome (disorder) | Auriculocondylar syndrome | Dysgnathia complex,SNOMEDCT ID:702443003,,,auriculocondylar syndrome,MONDO:0000107,,MeSH ID:C538270,,,, +BMGC_DS12284,BMG_DS041039,"MIGRAINE, FAMILIAL HEMIPLEGIC, 2",UMLS ID:C1865322,,,,,"migraine, familial hemiplegic, 2",MONDO:0011232,,,familial hemiplegic migraine 2,DOID:0111182,,OMIM ID:182340 | OMIM ID:602481 +BMGC_DS12285,BMG_DS041040,"Migraine, Familial Basilar",UMLS ID:C1865323,,,,,,,,MeSH ID:C566540,,,, +BMGC_DS12286,BMG_DS041041,"Febrile Convulsions, Familial, 2",UMLS ID:C1865342,,,,,"febrile seizures, familial, 2",MONDO:0011231,,MeSH ID:C566541,,,, +BMGC_DS12287,BMG_DS041042,OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE,UMLS ID:C1865343,,,,,ossification of the posterior longitudinal ligament of the spine,MONDO:0011230,,,ossification of the posterior longitudinal ligament of spine,DOID:0060887,,OMIM ID:602475 +BMGC_DS12288,BMG_DS041043,Ethylmalonic encephalopathy,UMLS ID:C1865349,Ethylmalonic encephalopathy (disorder) | Ethylmalonic encephalopathy,SNOMEDCT ID:811000124106 | SNOMEDCT ID:723307008,,,ethylmalonic encephalopathy,MONDO:0011229,,MeSH ID:C535737,ethylmalonic encephalopathy,DOID:0060640,,OMIM ID:602473 +BMGC_DS12289,BMG_DS041045,,UMLS ID:C1865361,,,,,short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,MONDO:0011227,,,,,,OMIM ID:602471 +BMGC_DS12290,BMG_DS041046,"Deafness, Autosomal Dominant 15",UMLS ID:C1865366,,,,,autosomal dominant nonsyndromic hearing loss 15,MONDO:0011226,,MeSH ID:C566545,,,,OMIM ID:602459 +BMGC_DS12291,BMG_DS041047,Severe combined immunodeficiency with sensitivity to ionizing radiation,UMLS ID:C1865370,,,,,severe combined immunodeficiency due to DCLRE1C deficiency,MONDO:0011225,,MeSH ID:C537589,severe combined immunodeficiency with sensitivity to ionizing radiation,DOID:0090012,,OMIM ID:602450 +BMGC_DS12292,BMG_DS041048,"SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE",UMLS ID:C1865371,,,,,,,,,,,,OMIM ID:602450 +BMGC_DS12293,BMG_DS041049,"SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL",UMLS ID:C1865373,,,,,,,,,,,,OMIM ID:602450 | OMIM ID:605988 +BMGC_DS12294,BMG_DS041050,"Amyotrophy, monomelic",UMLS ID:C1865384,,,,,monomelic amyotrophy,MONDO:0011224,,MeSH ID:C538253,,,,OMIM ID:602440 +BMGC_DS12295,BMG_DS041051,"Amyotrophic Lateral Sclerosis 4, Juvenile",UMLS ID:C1865409,,,,,amyotrophic lateral sclerosis type 4,MONDO:0011223,,MeSH ID:C566550,,,,OMIM ID:602433 +BMGC_DS12296,BMG_DS041053,,UMLS ID:C1865433,,,,,congenital bilateral absence of vas deferens,MONDO:0018801,,,,,, +BMGC_DS12297,BMG_DS041054,Weyers ulnar ray-oligodactyly syndrome,UMLS ID:C1865566,,,,,Weyers ulnar ray/oligodactyly syndrome,MONDO:0011221,,MeSH ID:C536696,,,,OMIM ID:602418 +BMGC_DS12298,BMG_DS041057,Desmosterolosis,UMLS ID:C1865596,Desmosterolosis (disorder) | Desmosterolosis,SNOMEDCT ID:709490002,,,desmosterolosis,MONDO:0011217,,MeSH ID:C566555,,,,OMIM ID:602398 +BMGC_DS12299,BMG_DS041058,"HEMOCHROMATOSIS, TYPE 2A",UMLS ID:C1865614,,,,,hemochromatosis type 2A,MONDO:0011216,,,hemochromatosis type 2A,DOID:0111027,,OMIM ID:608374 | OMIM ID:602390 +BMGC_DS12300,BMG_DS041059,"HEMOCHROMATOSIS, TYPE 2B",UMLS ID:C1865616,,,,,hemochromatosis type 2B,MONDO:0013220,,,hemochromatosis type 2B,DOID:0111032,,OMIM ID:606464 | OMIM ID:613313 +BMGC_DS12301,BMG_DS041060,Gracile bone dysplasia,UMLS ID:C1865639,Osteocraniostenosis (disorder) | Osteocraniostenosis | Gracile bone dysplasia | Osteocraniosplenic syndrome,SNOMEDCT ID:722109008,,,osteocraniostenosis,MONDO:0011215,,MeSH ID:C537291,,,,OMIM ID:602361 +BMGC_DS12302,BMG_DS041061,"Cholestasis, progressive familial intrahepatic 3",UMLS ID:C1865643,,,,,progressive familial intrahepatic cholestasis type 3,MONDO:0011214,,MeSH ID:C535935,progressive familial intrahepatic cholestasis 3,DOID:0070223,,OMIM ID:602347 +BMGC_DS12303,BMG_DS041062,"Plantar Lipomatosis, Unusual Facies, and Developmental Delay",UMLS ID:C1865644,,,,,Pierpont syndrome,MONDO:0011213,,MeSH ID:C566559,,,,OMIM ID:602342 +BMGC_DS12304,BMG_DS041064,"Spondylometaphyseal dysplasia, axial",UMLS ID:C1865695,,,,,axial spondylometaphyseal dysplasia,MONDO:0011211,,MeSH ID:C535795,axial spondylometaphyseal dysplasia,DOID:0112299,,OMIM ID:602271 +BMGC_DS12305,BMG_DS041067,"XANTHOMATOSIS, SUSCEPTIBILITY TO",UMLS ID:C1865704,,,,,"xanthomatosis, susceptibility to",MONDO:0011207,,,,,,OMIM ID:602247 +BMGC_DS12306,BMG_DS041068,Ventriculomegaly With Defects Of The Radius And Kidney,UMLS ID:C1865780,,,,,ventriculomegaly with defects of the radius and kidney,MONDO:0011206,,MeSH ID:C566565,,,,OMIM ID:602200 +BMGC_DS12307,BMG_DS041069,Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency,UMLS ID:C1865781,,,,,medium chain 3-ketoacyl-Coa thiolase deficiency,MONDO:0011205,,MeSH ID:C566566,,,,OMIM ID:602199 +BMGC_DS12308,BMG_DS041070,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies,UMLS ID:C1865783,,,,,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies,MONDO:0011203,,MeSH ID:C535775,,,,OMIM ID:602196 +BMGC_DS12309,BMG_DS041071,RHYNS syndrome,UMLS ID:C1865794,"Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) | RHYNS syndrome | Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome | RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome",SNOMEDCT ID:723999009,,,RHYNS syndrome,MONDO:0011202,,MeSH ID:C537612,,,,OMIM ID:602152 +BMGC_DS12310,BMG_DS041074,"TREMOR, HEREDITARY ESSENTIAL, 2",UMLS ID:C1865810,,,,,"tremor, hereditary essential, 2",MONDO:0011201,,,essential tremor 2,DOID:0111429,,OMIM ID:602134 +BMGC_DS12311,BMG_DS041075,Torsion dystonia 7,UMLS ID:C1865818,,,,,torsion dystonia 7,MONDO:0011200,,MeSH ID:C566572,,,,OMIM ID:602124 +BMGC_DS12312,BMG_DS041076,"CERVICAL DYSTONIA, PRIMARY",UMLS ID:C1865819,,,,,,,,,torsion dystonia 7,DOID:0090040,,OMIM ID:602124 +BMGC_DS12313,BMG_DS041077,"Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease",UMLS ID:C1865831,,,,,"nephropathy, progressive tubulointerstitial, with cholestatic liver disease",MONDO:0011199,,MeSH ID:C566573,,,,OMIM ID:602114 +BMGC_DS12314,BMG_DS041078,"Spondyloepimetaphyseal Dysplasia, Missouri Type",UMLS ID:C1865832,,,,,"spondyloepimetaphyseal dysplasia, Missouri type",MONDO:0011198,,MeSH ID:C566574,"spondyloepimetaphyseal dysplasia, Missouri type",DOID:0080030,,OMIM ID:602111 +BMGC_DS12315,BMG_DS041080,,UMLS ID:C1865864,,,,,amyotrophic lateral sclerosis type 5,MONDO:0011196,,,,,,OMIM ID:602099 +BMGC_DS12316,BMG_DS041081,"Usher Syndrome, Type IE",UMLS ID:C1865865,,,,,Usher syndrome type 1E,MONDO:0011195,,MeSH ID:C566577,,,,OMIM ID:602097 +BMGC_DS12317,BMG_DS041082,Congenital sensorineural hearing loss,UMLS ID:C1865866,Congenital sensorineural hearing loss (disorder) | Congenital sensorineural hearing loss | Congenital sensorineural deafness,SNOMEDCT ID:700453005,,,,,,,,,,OMIM ID:MTHU013508 +BMGC_DS12318,BMG_DS041083,ALZHEIMER DISEASE 5,UMLS ID:C1865868,,,,,Alzheimer disease 5,MONDO:0011194,,,,,,OMIM ID:602096 +BMGC_DS12319,BMG_DS041084,Cone Dystrophy 3,UMLS ID:C1865869,,,,,cone dystrophy 3,MONDO:0011193,,MeSH ID:C566579,cone-rod dystrophy 14,DOID:0080314,,OMIM ID:602093 +BMGC_DS12320,BMG_DS041085,"Deafness, Autosomal Recessive 18",UMLS ID:C1865870,,,,,autosomal recessive nonsyndromic hearing loss 18A,MONDO:0011192,,MeSH ID:C566580,,,,OMIM ID:602092 +BMGC_DS12321,BMG_DS041086,"HEMANGIOMA, CAPILLARY INFANTILE",UMLS ID:C1865871,,,,,capillary infantile hemangioma,MONDO:0011191,,,,,,OMIM ID:602089 +BMGC_DS12322,BMG_DS041087,NEPHRONOPHTHISIS 2,UMLS ID:C1865872,,,,,nephronophthisis 2,MONDO:0011190,,,,,,OMIM ID:243305 | OMIM ID:602088 +BMGC_DS12323,BMG_DS041088,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 4",UMLS ID:C1865881,,,,,arrhythmogenic right ventricular dysplasia 4,MONDO:0011189,,MeSH ID:C566583,,,,OMIM ID:602087 +BMGC_DS12324,BMG_DS041089,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 3",UMLS ID:C1865882,,,,,arrhythmogenic right ventricular dysplasia 3,MONDO:0011188,,MeSH ID:C566584,,,,OMIM ID:602086 +BMGC_DS12325,BMG_DS041090,"Polydactyly, Postaxial, Type A2",UMLS ID:C1865883,,,,,"polydactyly, postaxial, type A2",MONDO:0011187,,MeSH ID:C566585,,,,OMIM ID:602085 +BMGC_DS12326,BMG_DS041091,"Usher Syndrome, Type IF",UMLS ID:C1865885,,,,,Usher syndrome type 1F,MONDO:0011186,,MeSH ID:C566586,,,,OMIM ID:602083 +BMGC_DS12327,BMG_DS041092,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",UMLS ID:C1865915,,,,,"fibrosis of extraocular muscles, congenital, 2",MONDO:0011181,,,congenital fibrosis of the extraocular muscles 2,DOID:0081016,,OMIM ID:602078 | OMIM ID:602753 +BMGC_DS12328,BMG_DS041093,Bilateral ptosis,UMLS ID:C1865916,,,,,,,,,,,,OMIM ID:MTHU005602 +BMGC_DS12329,BMG_DS041094,"Broad Terminal Phalanges, Familial",UMLS ID:C1865923,,,,,"broad terminal phalanges, familial",MONDO:0011180,,MeSH ID:C566588,,,,OMIM ID:602071 +BMGC_DS12330,BMG_DS041095,"Infantile convulsions and paroxysmal choreoathetosis, familial",UMLS ID:C1865926,,,,,infantile convulsions and choreoathetosis,MONDO:0011178,,MeSH ID:C535522,,,,OMIM ID:602066 +BMGC_DS12331,BMG_DS041096,,UMLS ID:C1865951,,,,,,,,,pure hair and nail ectodermal dysplasia,DOID:0111655,, +BMGC_DS12332,BMG_DS041097,"Hypomagnesemia 1, Intestinal",UMLS ID:C1865974,,,,,intestinal hypomagnesemia 1,MONDO:0011176,,MeSH ID:C566593,,,,OMIM ID:602014 +BMGC_DS12333,BMG_DS041098,FRIEDREICH ATAXIA 2,UMLS ID:C1865981,,,,,Friedreich ataxia 2,MONDO:0011175,,,,,,OMIM ID:601992 +BMGC_DS12334,BMG_DS041099,Hyperzincemia with Functional Zinc Depletion,UMLS ID:C1865986,,,,,hyperzincemia with functional zinc depletion,MONDO:0011174,,MeSH ID:C566595,,,,OMIM ID:601979 +BMGC_DS12335,BMG_DS041101,Odontotrichoungual-Digital-Palmar Syndrome,UMLS ID:C1865998,,,,,odonto-tricho-ungual-digito-palmar syndrome,MONDO:0011171,,MeSH ID:C566598,,,,OMIM ID:601957 +BMGC_DS12336,BMG_DS041102,"Muscular Dystrophy, Limb-Girdle, Type 2G",UMLS ID:C1866008,,,,,autosomal recessive limb-girdle muscular dystrophy type 2G,MONDO:0011170,,MeSH ID:C566599,,,,OMIM ID:601954 +BMGC_DS12337,BMG_DS041103,Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma,UMLS ID:C1866029,,,,,keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,MONDO:0011169,,MeSH ID:C566600,,,,OMIM ID:601952 +BMGC_DS12338,BMG_DS041104,"EPISODIC ATAXIA, TYPE 5",UMLS ID:C1866039,,,,,episodic ataxia type 5,MONDO:0013464,,,episodic ataxia type 5,DOID:0050993,,OMIM ID:601949 | OMIM ID:613855 +BMGC_DS12339,BMG_DS041105,"DIABETES MELLITUS, INSULIN-DEPENDENT, 10",UMLS ID:C1866040,,,,,type 1 diabetes mellitus 10,MONDO:0011168,,,,,,OMIM ID:601942 +BMGC_DS12340,BMG_DS041106,"DIABETES MELLITUS, INSULIN-DEPENDENT, 6",UMLS ID:C1866041,,,,,type 1 diabetes mellitus 6,MONDO:0011167,,,,,,OMIM ID:601941 +BMGC_DS12341,BMG_DS041107,Severe hydrops,UMLS ID:C1866048,,,,,,,,,,,,OMIM ID:MTHU041796 +BMGC_DS12342,BMG_DS041108,"Deafness, Congenital Heart Defects, and Posterior Embryotoxon",UMLS ID:C1866053,,,,,"deafness, congenital heart defects, and posterior embryotoxon",MONDO:0060713,,MeSH ID:C566604,,,,OMIM ID:617992 +BMGC_DS12343,BMG_DS041109,,UMLS ID:C1866070,,,,,orofacial cleft 10,MONDO:0013378,,,,,,OMIM ID:613705 +BMGC_DS12344,BMG_DS041110,,UMLS ID:C1866075,,,,,glomerulopathy with fibronectin deposits 2,MONDO:0011165,,,,,,OMIM ID:601894 +BMGC_DS12345,BMG_DS041112,,UMLS ID:C1866077,,,,,"malignant hyperthermia, susceptibility to, 5",MONDO:0011163,,,,,,OMIM ID:601887 +BMGC_DS12346,BMG_DS041113,"Cataract, Zonular Pulverulent 3",UMLS ID:C1866078,,,,,cataract 14 multiple types,MONDO:0011162,,MeSH ID:C566608,,,,OMIM ID:601885 +BMGC_DS12347,BMG_DS041114,Left-Right Axis Malformations,UMLS ID:C1866091,,,,,,,,MeSH ID:C566610,,,, +BMGC_DS12348,BMG_DS041115,"DEAFNESS, AUTOSOMAL RECESSIVE 15",UMLS ID:C1866094,,,,,autosomal recessive nonsyndromic hearing loss 15,MONDO:0011160,,,,,,OMIM ID:601869 | OMIM ID:608792 +BMGC_DS12349,BMG_DS041116,"Deafness, Autosomal Dominant 13",UMLS ID:C1866095,,,,,autosomal dominant nonsyndromic hearing loss 13,MONDO:0011159,,MeSH ID:C566612,,,,OMIM ID:601868 +BMGC_DS12350,BMG_DS041117,"Autoimmune Lymphoproliferative Syndrome, Type IA",UMLS ID:C1866119,,,,,,,,MeSH ID:C566613,,,, +BMGC_DS12351,BMG_DS041118,"Autoimmune Lymphoproliferative Syndrome, Type IB",UMLS ID:C1866120,,,,,,,,MeSH ID:C566614,,,, +BMGC_DS12352,BMG_DS041121,Vacuolar Neuromyopathy,UMLS ID:C1866139,,,,,vacuolar Neuromyopathy,MONDO:0011155,,MeSH ID:C566617,,,,OMIM ID:601846 +BMGC_DS12353,BMG_DS041123,Phosphoglycerate Dehydrogenase Deficiency,UMLS ID:C1866174,,,,,PHGDH deficiency,MONDO:0011152,,MeSH ID:C566618,PHGDH deficiency,DOID:0050722,,OMIM ID:601815 +BMGC_DS12354,BMG_DS041124,Exudative Vitreoretinopathy 4,UMLS ID:C1866176,,,,,exudative vitreoretinopathy 4,MONDO:0011151,,MeSH ID:C566619,exudative vitreoretinopathy 4,DOID:0111411,,OMIM ID:601813 +BMGC_DS12355,BMG_DS041125,Penttinen-Aula syndrome,UMLS ID:C1866182,,,,,acroosteolysis-keloid-like lesions-premature aging syndrome,MONDO:0011150,,MeSH ID:C536653,,,,OMIM ID:601812 +BMGC_DS12356,BMG_DS041126,"Premature Aging Syndrome, Okamoto Type",UMLS ID:C1866183,,,,,"premature aging syndrome, Okamoto type",MONDO:0011149,,MeSH ID:C566621,,,,OMIM ID:601811 +BMGC_DS12357,BMG_DS041127,Spondylospinal Thoracic Dysostosis,UMLS ID:C1866184,,,,,Spondylospinal thoracic dysostosis,MONDO:0011148,,MeSH ID:C566622,,,,OMIM ID:601809 +BMGC_DS12358,BMG_DS041128,Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome,UMLS ID:C1866256,,,,,colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome,MONDO:0011145,,MeSH ID:C566623,,,,OMIM ID:601794 +BMGC_DS12359,BMG_DS041129,"Peroxisome Biogenesis Disorder, Complementation Group K",UMLS ID:C1866257,,,,,"peroxisome biogenesis disorder, complementation group K",MONDO:0800365,,MeSH ID:C566624,,,, +BMGC_DS12360,BMG_DS041132,Retinal cone dystrophy 2,UMLS ID:C1866293,,,,,cone-rod dystrophy 6,MONDO:0011143,,MeSH ID:C538363,,,,OMIM ID:601777 +BMGC_DS12361,BMG_DS041133,,UMLS ID:C1866294,,,,,"Ehlers-Danlos syndrome, musculocontractural type",MONDO:0011142,,,,,, +BMGC_DS12362,BMG_DS041134,Preaxial Hallucal Polydactyly,UMLS ID:C1866339,,,,,preaxial hallucal polydactyly,MONDO:0011139,,MeSH ID:C566632,,,,OMIM ID:601759 +BMGC_DS12363,BMG_DS041138,,UMLS ID:C1866373,,,,,"systemic lupus erythematosus, susceptibility to, 1",MONDO:0011138,,,,,,OMIM ID:601744 +BMGC_DS12364,BMG_DS041139,Proteus-Like Syndrome,UMLS ID:C1866398,,,,,Proteus-like syndrome,MONDO:0017571,Proteus Syndrome,MeSH ID:D016715,,,, +BMGC_DS12365,BMG_DS041140,RETINITIS PIGMENTOSA 19,UMLS ID:C1866422,,,,,retinitis pigmentosa 19,MONDO:0011137,,,,,,OMIM ID:601691 | OMIM ID:601718 +BMGC_DS12366,BMG_DS041141,Quebec platelet disorder,UMLS ID:C1866423,,,,,Quebec platelet disorder,MONDO:0011136,,MeSH ID:C536260,Quebec platelet disorder,DOID:0111050,,OMIM ID:601709 +BMGC_DS12367,BMG_DS041142,"Superior Transverse Scapular Ligament, Calcification Of, Familial",UMLS ID:C1866424,,,,,"superior transverse scapular ligament, calcification of, familial",MONDO:0011135,,MeSH ID:C566638,,,,OMIM ID:601708 +BMGC_DS12368,BMG_DS041143,Yemenite deaf-blind hypopigmentation syndrome,UMLS ID:C1866425,,,,,"deaf blind hypopigmentation syndrome, Yemenite type",MONDO:0011133,,MeSH ID:C536771,,,,OMIM ID:601706 +BMGC_DS12369,BMG_DS041144,"T-cell immunodeficiency, congenital alopecia and nail dystrophy",UMLS ID:C1866426,,,,,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy",MONDO:0011132,,MeSH ID:C536781,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy",DOID:0060769,,OMIM ID:601705 +BMGC_DS12370,BMG_DS041145,Arthrogryposis and ectodermal dysplasia,UMLS ID:C1866427,,,,,tricho-oculo-dermo-vertebral syndrome,MONDO:0011131,,MeSH ID:C537441,,,,OMIM ID:601701 +BMGC_DS12371,BMG_DS041146,"Sebaceous gland hyperplasia, familial presenile",UMLS ID:C1866428,,,,,"sebaceous gland hyperplasia, familial presenile",MONDO:0011130,,MeSH ID:C537530,,,,OMIM ID:601700 +BMGC_DS12372,BMG_DS041148,,UMLS ID:C1866483,,,,,glaucoma type 1C,MONDO:0011129,,,,,,OMIM ID:601682 +BMGC_DS12373,BMG_DS041149,"Bartter syndrome, antenatal type 1",UMLS ID:C1866495,,,,,Bartter disease type 1,MONDO:0100344,,MeSH ID:C537652,,,,OMIM ID:601678 +BMGC_DS12374,BMG_DS041151,Photosensitive Trichothiodystrophy,UMLS ID:C1866504,,,,,"trichothiodystrophy 1, photosensitive",MONDO:0011125,Trichothiodystrophy Syndromes,MeSH ID:D054463,photosensitive trichothiodystrophy | nonphotosensitive trichothiodystrophy 5,DOID:0111868;DOID:2960,,OMIM ID:601675 +BMGC_DS12375,BMG_DS041154,"DIABETES MELLITUS, INSULIN-DEPENDENT, 15",UMLS ID:C1866519,,,,,type 1 diabetes mellitus 15,MONDO:0011123,,,,,,OMIM ID:601666 +BMGC_DS12376,BMG_DS041155,Paragangliomas 2,UMLS ID:C1866552,,,,,paragangliomas 2,MONDO:0011121,,MeSH ID:C566646,,,,OMIM ID:601650 +BMGC_DS12377,BMG_DS041156,"Neural tube defect, folate-sensitive",UMLS ID:C1866558,,,,,"neural tube defects, folate-sensitive",MONDO:0011120,,MeSH ID:C536409,,,,OMIM ID:601634 +BMGC_DS12378,BMG_DS041158,"Iridogoniodysgenesis, Type 1",UMLS ID:C1866560,,,,,anterior segment dysgenesis 3,MONDO:0024456,,MeSH ID:C535535,,,,OMIM ID:601631 +BMGC_DS12379,BMG_DS041160,Iris Pigment Epithelium Anomalies,UMLS ID:C1866608,,,,,iris pigment epithelium anomalies,MONDO:0011117,,MeSH ID:C566651,,,,OMIM ID:601616 +BMGC_DS12380,BMG_DS041161,Spastic Paraplegia And Evans Syndrome,UMLS ID:C1866619,,,,,spastic paraplegia and Evans syndrome,MONDO:0011115,,MeSH ID:C566652,,,,OMIM ID:601608 +BMGC_DS12381,BMG_DS041163,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",UMLS ID:C1866636,,,,,Charcot-Marie-Tooth disease type 4C,MONDO:0011113,,,,,,OMIM ID:608206 | OMIM ID:601596 +BMGC_DS12382,BMG_DS041164,Steinfeld Syndrome,UMLS ID:C1866649,,,,,holoprosencephaly-radial heart renal anomalies syndrome,MONDO:0008488,,MeSH ID:C566655,,,,OMIM ID:184705 +BMGC_DS12383,BMG_DS041165,Steatocystoma multiplex with natal teeth,UMLS ID:C1866650,,,,,steatocystoma multiplex-natal teeth syndrome,MONDO:0008486,,MeSH ID:C537487,,,,OMIM ID:184510 +BMGC_DS12384,BMG_DS041166,Stapes ankylosis with broad thumb and toe syndrome,UMLS ID:C1866656,Stapes ankylosis with broad thumb and toe syndrome (disorder) | Stapes ankylosis with broad thumb and toe syndrome | Teunissen Cremers syndrome,SNOMEDCT ID:719305006,,,stapes ankylosis with broad thumbs and toes,MONDO:0008484,,,,,,OMIM ID:184460 +BMGC_DS12385,BMG_DS041167,"Spondylometaphyseal dysplasia, Algerian type",UMLS ID:C1866688,,,,,"spondylometaphyseal dysplasia, Schmidt type",MONDO:0008478,,MeSH ID:C535794,spondylometaphyseal dysplasia Algerian type,DOID:0112296,,OMIM ID:184253 +BMGC_DS12386,BMG_DS041168,"Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant",UMLS ID:C1866717,,,,,"spondyloepiphyseal dysplasia tarda, autosomal dominant",MONDO:0008474,,MeSH ID:C566658,,,,OMIM ID:184100 +BMGC_DS12387,BMG_DS041172,"SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2",UMLS ID:C1866738,,,,,"spondyloarthropathy, susceptibility to, 2",MONDO:0008468,,,ankylosing spondylitis 2,DOID:0080604,,OMIM ID:183840 +BMGC_DS12388,BMG_DS041174,"SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS",UMLS ID:C1866740,,,,,Karsch-Neugebauer syndrome,MONDO:0008466,,,,,,OMIM ID:183800 +BMGC_DS12389,BMG_DS041175,Split-Hand And Split-Foot With Hypodontia,UMLS ID:C1866742,,,,,split-hand and split-foot with hypodontia,MONDO:0008463,,MeSH ID:C566665,,,,OMIM ID:183500 +BMGC_DS12390,BMG_DS041176,,UMLS ID:C1866743,,,,,split lower lip,MONDO:0008462,,,,,,OMIM ID:183400 +BMGC_DS12391,BMG_DS041178,Splenogonadal fusion limb defects micrognatia,UMLS ID:C1866745,,,,,splenogonadal fusion-limb defects-micrognathia syndrome,MONDO:0008460,,MeSH ID:C537318,,,,OMIM ID:183300 +BMGC_DS12392,BMG_DS041179,Spinocerebellar Atrophy With Pupillary Paralysis,UMLS ID:C1866746,,,,,spinocerebellar atrophy with pupillary paralysis,MONDO:0008459,,MeSH ID:C566668,,,,OMIM ID:183100 +BMGC_DS12393,BMG_DS041181,Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy,UMLS ID:C1866770,,,,,spinocerebellar ataxia with rigidity and peripheral neuropathy,MONDO:0008456,,MeSH ID:C566669,,,,OMIM ID:183050 +BMGC_DS12394,BMG_DS041182,,UMLS ID:C1866774,,,,,"spinal muscular atrophy, segmental",MONDO:0008455,,,,,,OMIM ID:183020 +BMGC_DS12395,BMG_DS041184,"Spinal Muscular Atrophy, Facioscapulohumeral Type",UMLS ID:C1866783,,,,,"spinal muscular atrophy, facioscapulohumeral type",MONDO:0008452,,MeSH ID:C566674,,,,OMIM ID:182970 +BMGC_DS12396,BMG_DS041185,"Neuronopathy, Distal Hereditary Motor, Type I",UMLS ID:C1866784,,,,,"neuronopathy, distal hereditary motor, autosomal dominant 1",MONDO:0008451,,MeSH ID:C566675,autosomal dominant distal hereditary motor neuronopathy 1,DOID:0111200,,OMIM ID:182960 +BMGC_DS12397,BMG_DS041186,Spheroid body myopathy,UMLS ID:C1866785,Spheroid body myopathy | Spheroid body myopathy (disorder),SNOMEDCT ID:765092004,,,,,,MeSH ID:C000598645,,,, +BMGC_DS12398,BMG_DS041188,"Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease",UMLS ID:C1866802,,,,,delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,MONDO:0008445,,MeSH ID:C566677,,,,OMIM ID:182875 +BMGC_DS12399,BMG_DS041189,ELLIPTOCYTOSIS 3,UMLS ID:C1866810,,,,,elliptocytosis 3,MONDO:0054780,,,,,,OMIM ID:617948 | OMIM ID:182870 +BMGC_DS12400,BMG_DS041190,"Spastic Paraplegia, Optic Atrophy, And Dementia",UMLS ID:C1866849,,,,,"spastic paraplegia, optic atrophy, and dementia",MONDO:0008444,,MeSH ID:C566679,,,,OMIM ID:182830 +BMGC_DS12401,BMG_DS041192,Spastic paraplegia neuropathy poikiloderma,UMLS ID:C1866851,,,,,spastic paraplegia-neuropathy-poikiloderma syndrome,MONDO:0008442,,MeSH ID:C536870,,,,OMIM ID:182815 +BMGC_DS12402,BMG_DS041193,Spastic Paraplegia With Associated Extrapyramidal Signs,UMLS ID:C1866852,,,,,spastic paraplegia with associated extrapyramidal signs,MONDO:0008441,,MeSH ID:C566681,,,,OMIM ID:182800 +BMGC_DS12403,BMG_DS041194,"Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy",UMLS ID:C1866853,,,,,spastic paraplegia-nephritis-deafness syndrome,MONDO:0008440,,MeSH ID:C566682,,,,OMIM ID:182690 +BMGC_DS12404,BMG_DS041196,"Spastic paraplegia 4, autosomal dominant",UMLS ID:C1866855,,,,,hereditary spastic paraplegia 4,MONDO:0008438,,MeSH ID:C536865,,,,OMIM ID:182601 +BMGC_DS12405,BMG_DS041198,Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification,UMLS ID:C1866939,,,,,skeletal dysplasia with delayed epiphyseal and carpal bone ossification,MONDO:0008430,,MeSH ID:C566687,,,,OMIM ID:182255 +BMGC_DS12406,BMG_DS041200,Shprintzen omphalocele syndrome,UMLS ID:C1866958,,,,,"omphalocele syndrome, Shprintzen-Goldberg type",MONDO:0008425,,MeSH ID:C537329,,,,OMIM ID:182210 +BMGC_DS12407,BMG_DS041201,,UMLS ID:C1866959,,,,,"sella turcica, bridged",MONDO:0008424,,,,,,OMIM ID:182200 +BMGC_DS12408,BMG_DS041202,Sinus Node Disease and Myopia,UMLS ID:C1866960,,,,,sinus node disease and myopia,MONDO:0008423,,MeSH ID:C566690,,,,OMIM ID:182190 +BMGC_DS12409,BMG_DS041203,Simosa cranio facial syndrome,UMLS ID:C1866962,,,,,flat face-microstomia-ear anomaly syndrome,MONDO:0008421,,MeSH ID:C537339,,,,OMIM ID:182150 +BMGC_DS12410,BMG_DS041204,"SCLERODERMA, FAMILIAL PROGRESSIVE",UMLS ID:C1866983,,,,,"scleroderma, familial progressive",MONDO:0008418,,,,,,OMIM ID:181750 +BMGC_DS12411,BMG_DS041206,Scholte syndrome,UMLS ID:C1866985,"Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) | Intellectual disability, balding, patella luxation, acromicria syndrome | Scholte Begeer-van Essen syndrome | Scholte syndrome",SNOMEDCT ID:722002002,,,intellectual disability-balding-patella luxation-acromicria syndrome,MONDO:0010505,,MeSH ID:C536638,,,,OMIM ID:300977 +BMGC_DS12412,BMG_DS041208,Ulnar-mammary syndrome,UMLS ID:C1866994,Ulnar mammary syndrome | Ulnar mammary syndrome (disorder) | Ulnar-mammary syndrome | Schinzel syndrome,SNOMEDCT ID:700211007,,,ulnar-mammary syndrome,MONDO:0008411,,MeSH ID:C536937,ulnar-mammary syndrome,DOID:0060614,,OMIM ID:181450 +BMGC_DS12413,BMG_DS041209,"Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",UMLS ID:C1867005,,,,,"neurogenic scapuloperoneal syndrome, Kaeser type",MONDO:0008407,,MeSH ID:C566695,neurogenic scapuloperoneal syndrome Kaeser type,DOID:0111551,,OMIM ID:181400 +BMGC_DS12414,BMG_DS041210,SCALP-EAR-NIPPLE SYNDROME,UMLS ID:C1867020,,,,,scalp-ear-nipple syndrome,MONDO:0008404,,,scalp-ear-nipple syndrome,DOID:0111550,,OMIM ID:181270 | OMIM ID:613420 +BMGC_DS12415,BMG_DS041211,Scalp defects postaxial polydactyly,UMLS ID:C1867021,,,,,scalp defects-postaxial polydactyly syndrome,MONDO:0008403,,MeSH ID:C536622,,,,OMIM ID:181250 +BMGC_DS12416,BMG_DS041212,Say syndrome,UMLS ID:C1867023,,,,,cleft palate-large ears-small head syndrome,MONDO:0008402,,MeSH ID:C536621,,,,OMIM ID:181180 +BMGC_DS12417,BMG_DS041218,Robinow Sorauf syndrome,UMLS ID:C1867146,,,,,Robinow-Sorauf syndrome,MONDO:0008391,,MeSH ID:C537183,,,,OMIM ID:180750 +BMGC_DS12418,BMG_DS041219,Rombo syndrome,UMLS ID:C1867147,Rombo syndrome (disorder) | Rombo syndrome,SNOMEDCT ID:721904001,,,Rombo syndrome,MONDO:0008390,,MeSH ID:C535870,,,,OMIM ID:180730 +BMGC_DS12419,BMG_DS041220,RING DERMOID OF CORNEA,UMLS ID:C1867155,,,,,ring dermoid of cornea,MONDO:0008387,,,ring dermoid of cornea,DOID:0111548,,OMIM ID:601542 | OMIM ID:180550 +BMGC_DS12420,BMG_DS041221,,UMLS ID:C1867222,,,,,rhiny,MONDO:0008385,,,,,,OMIM ID:180360 +BMGC_DS12421,BMG_DS041222,,UMLS ID:C1867234,,,,,"rhabdomyosarcoma, embryonal, 2",MONDO:0859046,,,,,,OMIM ID:180295 +BMGC_DS12422,BMG_DS041225,"Retinopathy, Pericentral Pigmentary, Dominant",UMLS ID:C1867261,,,,,dominant pericentral pigmentary retinopathy,MONDO:0008381,,MeSH ID:C566713,,,,OMIM ID:180210 +BMGC_DS12423,BMG_DS041226,Retinitis Pigmentosa 10,UMLS ID:C1867299,,,,,retinitis pigmentosa 10,MONDO:0008379,,MeSH ID:C566715,retinitis pigmentosa 10,DOID:0110388,,OMIM ID:180105 +BMGC_DS12424,BMG_DS041227,RETINITIS PIGMENTOSA 9,UMLS ID:C1867300,,,,,retinitis pigmentosa 9,MONDO:0008378,,,,,,OMIM ID:180104 | OMIM ID:607331 +BMGC_DS12425,BMG_DS041229,RETINAL CONE DYSTROPHY 1,UMLS ID:C1867326,,,,,retinal cone dystrophy type 1,MONDO:0008374,,,,,,OMIM ID:180020 +BMGC_DS12426,BMG_DS041231,Reticular Dystrophy Of Retinal Pigment Epithelium,UMLS ID:C1867332,,,,,reticular dystrophy of the retinal pigment epithelium,MONDO:0009979,,MeSH ID:C566721,,,,OMIM ID:179840 +BMGC_DS12427,BMG_DS041232,Red cell phospholipid defect with hemolysis,UMLS ID:C1867339,,,,,red cell phospholipid defect with hemolysis,MONDO:0008367,,MeSH ID:C535298,,,,OMIM ID:179700 +BMGC_DS12428,BMG_DS041234,,UMLS ID:C1867393,,,,,raindrop hypopigmentation,MONDO:0008363,,,,,,OMIM ID:179500 +BMGC_DS12429,BMG_DS041236,"RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE",UMLS ID:C1867395,,,,,"radius, aplasia of, with cleft lip/palate",MONDO:0008361,,,,,,OMIM ID:179400 +BMGC_DS12430,BMG_DS041237,RADIAL-RENAL SYNDROME,UMLS ID:C1867396,,,,,,,,,,,,OMIM ID:179280 +BMGC_DS12431,BMG_DS041238,"Radial hypoplasia, triphalangeal thumbs and hypospadias",UMLS ID:C1867397,,,,,radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,MONDO:0008357,,MeSH ID:C536262,,,,OMIM ID:179250 +BMGC_DS12432,BMG_DS041239,"Radial Heads, Posterior Dislocation Of",UMLS ID:C1867398,,,,,"radial heads, posterior dislocation of",MONDO:0008356,,MeSH ID:C566728,,,,OMIM ID:179200 +BMGC_DS12433,BMG_DS041240,Infantile Hypertrophic Pyloric Stenosis,UMLS ID:C1867403,,,,,"hypertrophic pyloric stenosis | pyloric stenosis, infantile hypertrophic, 1",MONDO:0001560;MONDO:0008355,"Pyloric Stenosis, Hypertrophic",MeSH ID:D046248,,,,OMIM ID:179010 +BMGC_DS12434,BMG_DS041241,PULMONIC STENOSIS AND DEAFNESS,UMLS ID:C1867406,,,,,pulmonic stenosis and deafness,MONDO:0008350,,,,,,OMIM ID:178651 +BMGC_DS12435,BMG_DS041242,Ciuffo Syndrome,UMLS ID:C1867407,,,,,"pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities",MONDO:0008349,,MeSH ID:C566733,,,,OMIM ID:178650 +BMGC_DS12436,BMG_DS041244,Pubic Bone Dysplasia,UMLS ID:C1867436,,,,,pubic bone dysplasia,MONDO:0008342,,MeSH ID:C566735,,,,OMIM ID:178350 +BMGC_DS12437,BMG_DS041245,"Ptosis, Strabismus, And Ectopic Pupils",UMLS ID:C1867437,,,,,ptosis-strabismus-ectopic pupils syndrome,MONDO:0008341,,MeSH ID:C566736,,,,OMIM ID:178330 +BMGC_DS12438,BMG_DS041246,"Ptosis, Hereditary Congenital 1",UMLS ID:C1867438,,,,,"ptosis, hereditary congenital, 1",MONDO:0008340,,MeSH ID:C566737,,,,OMIM ID:178300 +BMGC_DS12439,BMG_DS041247,"Pterygium, Antecubital",UMLS ID:C1867439,,,,,antecubital pterygium syndrome,MONDO:0008339,,MeSH ID:C566738,,,,OMIM ID:178200 +BMGC_DS12440,BMG_DS041248,Autosomal dominant multiple pterygium syndrome,UMLS ID:C1867440,Autosomal dominant multiple pterygium syndrome (disorder) | Distal arthrogryposis type 8 | Autosomal dominant multiple pterygium syndrome,SNOMEDCT ID:771269000,,,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",MONDO:0008338,,,,,,OMIM ID:178110 +BMGC_DS12441,BMG_DS041249,"Pterygium Colli, Isolated",UMLS ID:C1867442,,,,,"pterygium colli, isolated",MONDO:0008336,,MeSH ID:C566741,,,,OMIM ID:177990 +BMGC_DS12442,BMG_DS041250,Haspeslagh Fryns Muelenaere syndrome,UMLS ID:C1867443,Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) | Short stature with craniofacial anomalies and genital hypoplasia syndrome | Haspeslagh Fryns Muelenaere syndrome,SNOMEDCT ID:716090004,,,short stature-craniofacial anomalies-genital hypoplasia syndrome,MONDO:0008335,,MeSH ID:C535844,,,,OMIM ID:177980 +BMGC_DS12443,BMG_DS041251,,UMLS ID:C1867449,,,,,"psoriasis 1, susceptibility to",MONDO:0008334,,,,,,OMIM ID:177900 +BMGC_DS12444,BMG_DS041252,"Pseudoxanthoma Elasticum, Incomplete",UMLS ID:C1867450,,,,,"pseudoxanthoma elasticum, forme fruste",MONDO:0008333,Pseudoxanthoma Elasticum,MeSH ID:D011561,,,,OMIM ID:177850 +BMGC_DS12445,BMG_DS041256,"Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",UMLS ID:C1867469,,,,,,,,MeSH ID:C566751,,,, +BMGC_DS12446,BMG_DS041259,"Pruritus, Hereditary Localized",UMLS ID:C1867499,,,,,"pruritus, hereditary localized",MONDO:0008321,,MeSH ID:C566754,,,,OMIM ID:177100 +BMGC_DS12447,BMG_DS041262,,UMLS ID:C1867616,,,,,benign neoplasm of eye,MONDO:0021454,,,,,, +BMGC_DS12448,BMG_DS041265,Premature coronary artery disease,UMLS ID:C1867743,Premature coronary artery disease | Premature coronary artery disease (disorder) | PCAD - premature coronary artery disease,SNOMEDCT ID:1293192009,,,,,,,,,, +BMGC_DS12449,BMG_DS041266,Primary Release Disorder Of Platelets,UMLS ID:C1867770,,,,,primary release disorder of platelets,MONDO:0008309,,MeSH ID:C566759,,,,OMIM ID:176630 +BMGC_DS12450,BMG_DS041268,"Presenile dementia, Kraepelin type",UMLS ID:C1867772,,,,,"presenile dementia, Kraepelin type",MONDO:0008307,,MeSH ID:C535273,,,,OMIM ID:176600 +BMGC_DS12451,BMG_DS041271,"Preaxial deficiency, postaxial polydactyly and hypospadias",UMLS ID:C1867801,,,,,Guttmacher syndrome,MONDO:0008301,,MeSH ID:C538278,Guttmacher syndrome,DOID:0111544,,OMIM ID:176305 +BMGC_DS12452,BMG_DS041273,LONG QT SYNDROME 5,UMLS ID:C1867904,,,,,long QT syndrome 5,MONDO:0013372,,,,,,OMIM ID:176261 | OMIM ID:613695 +BMGC_DS12453,BMG_DS041274,Posterior column ataxia,UMLS ID:C1867923,,,,,posterior column ataxia,MONDO:0008299,,MeSH ID:C536342,,,,OMIM ID:176250 +BMGC_DS12454,BMG_DS041275,,UMLS ID:C1867924,,,,,postaxial tetramelic oligodactyly,MONDO:0008298,,,,,,OMIM ID:176240 +BMGC_DS12455,BMG_DS041276,"Porphyria Cutanea Tarda, Type I",UMLS ID:C1867968,,,,,sporadic porphyria cutanea tarda,MONDO:0008295,,MeSH ID:C566768,,,,OMIM ID:176090 +BMGC_DS12456,BMG_DS041277,"Porphyria, Acute Intermittent, Nonerythroid Variant",UMLS ID:C1867969,,,,,,,,MeSH ID:C566769,,,, +BMGC_DS12457,BMG_DS041278,"POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",UMLS ID:C1867981,,,,,"porokeratosis 3, disseminated superficial actinic type",MONDO:0008293,,,,,,OMIM ID:175900 +BMGC_DS12458,BMG_DS041279,,UMLS ID:C1867982,,,,,punctate palmoplantar keratoderma type 2,MONDO:0008292,,,,,,OMIM ID:175860 +BMGC_DS12459,BMG_DS041280,Familial porencephaly,UMLS ID:C1867983,Familial porencephaly (disorder) | Familial porencephalic cyst | Familial porencephaly,SNOMEDCT ID:1162864000,,,familial porencephaly,MONDO:0020496,,,porencephaly,DOID:0060263,, +BMGC_DS12460,BMG_DS041283,,UMLS ID:C1868001,,,,,polyposis of gastric fundus without polyposis coli,MONDO:0008284,,,,,,OMIM ID:175505 +BMGC_DS12461,BMG_DS041284,,UMLS ID:C1868005,,,,,"polyposis, intestinal, with multiple exostoses",MONDO:0008282,,,,,,OMIM ID:175450 +BMGC_DS12462,BMG_DS041285,,UMLS ID:C1868006,,,,,"polyposis, intestinal, scattered and discrete",MONDO:0008281,,,,,,OMIM ID:175400 +BMGC_DS12463,BMG_DS041288,Juvenile Polyposis Coli,UMLS ID:C1868081,,,,,generalized juvenile polyposis/juvenile polyposis coli,MONDO:0008276,,MeSH ID:C537702,juvenile polyposis syndrome,DOID:0050787,, +BMGC_DS12464,BMG_DS041290,,UMLS ID:C1868111,,,,,polysyndactyly 4,MONDO:0008272,,,,,,OMIM ID:174700 +BMGC_DS12465,BMG_DS041292,"Polydactyly, Preaxial III",UMLS ID:C1868113,,,,,polydactyly of an index finger,MONDO:0008271,,MeSH ID:C566784,,,,OMIM ID:174600 +BMGC_DS12466,BMG_DS041293,,UMLS ID:C1868114,,,,,polydactyly of a triphalangeal thumb,MONDO:0008270,,,,,,OMIM ID:174500 +BMGC_DS12467,BMG_DS041294,"POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",UMLS ID:C1868117,,,,,polydactyly-myopia syndrome,MONDO:0008268,,,,,,OMIM ID:174310 +BMGC_DS12468,BMG_DS041295,Orofaciodigital syndrome 5,UMLS ID:C1868118,,,,,orofaciodigital syndrome V,MONDO:0008267,,MeSH ID:C557819,orofaciodigital syndrome V,DOID:0060375,,OMIM ID:174300 +BMGC_DS12469,BMG_DS041296,,UMLS ID:C1868120,,,,,postaxial polydactyly type B,MONDO:0019674,,,,,, +BMGC_DS12470,BMG_DS041297,Medullary cystic kidney disease 1,UMLS ID:C1868139,Autosomal dominant medullary cystic kidney disease without hyperuricemia | Autosomal dominant medullary cystic kidney disease without hyperuricaemia | Medullary cystic kidney disease 1 | Mucin 1 related autosomal dominant tubulointerstitial kidney disease (disorder) | MUC1-related autosomal dominant tubulointerstitial kidney disease | Mucin 1 related autosomal dominant tubulointerstitial kidney disease,SNOMEDCT ID:726017001,,,"tubulointerstitial kidney disease, autosomal dominant, 2",MONDO:0020726,,MeSH ID:C536137,,,,OMIM ID:174000 +BMGC_DS12471,BMG_DS041300,"PNEUMOTHORAX, PRIMARY SPONTANEOUS",UMLS ID:C1868193,,,,,familial spontaneous pneumothorax,MONDO:0008259,,,primary spontaneous pneumothorax,DOID:0080218,,OMIM ID:607273 | OMIM ID:173600 +BMGC_DS12472,BMG_DS041301,Platelet Signal Processing Defect,UMLS ID:C1868199,,,,,platelet signal processing defect,MONDO:0008258,,MeSH ID:C566796,,,,OMIM ID:173590 +BMGC_DS12473,BMG_DS041305,Platelet Factor 3 Deficiency,UMLS ID:C1868256,,,,,platelet factor 3 deficiency,MONDO:0008255,,MeSH ID:C566798,,,,OMIM ID:173450 +BMGC_DS12474,BMG_DS041306,"Platelet Disorder, Undefined",UMLS ID:C1868258,,,,,"platelet disorder, undefined",MONDO:0008254,,MeSH ID:C566799,,,,OMIM ID:173420 +BMGC_DS12475,BMG_DS041309,Robin sequence and oligodactyly,UMLS ID:C1868309,,,,,Robin sequence-oligodactyly syndrome,MONDO:0008247,,MeSH ID:C535688,,,,OMIM ID:172880 +BMGC_DS12476,BMG_DS041310,Pigmented Paravenous Chorioretinal Atrophy,UMLS ID:C1868310,,,,,pigmented paravenous retinochoroidal atrophy,MONDO:0008246,,MeSH ID:C566801,pigmented paravenous chorioretinal atrophy,DOID:0111541,,OMIM ID:172870 +BMGC_DS12477,BMG_DS041311,Telfer Sugar Jaeger syndrome,UMLS ID:C1868311,Piebald trait with neurologic defects syndrome | Piebald trait with neurologic defects syndrome (disorder) | Telfer Sugar Jaeger syndrome,SNOMEDCT ID:773984007,,,piebald trait-neurologic defects syndrome,MONDO:0008245,,MeSH ID:C536955,,,,OMIM ID:172850 +BMGC_DS12478,BMG_DS041313,6-Phosphogluconolactonase Deficiency,UMLS ID:C1868355,,,,,6-phosphogluconolactonase deficiency,MONDO:0008240,,MeSH ID:C566803,,,,OMIM ID:172150 +BMGC_DS12479,BMG_DS041316,Phlebectasia Of Lips,UMLS ID:C1868391,,,,,phlebectasia of lips,MONDO:0008236,,MeSH ID:C566806,,,,OMIM ID:171450 +BMGC_DS12480,BMG_DS041317,,UMLS ID:C1868392,,,,,pheochromocytoma-islet cell tumor syndrome,MONDO:0008235,,,,,,OMIM ID:171420 +BMGC_DS12481,BMG_DS041320,Accessory deep peroneal nerve,UMLS ID:C1868426,,,,,"peroneal nerve, accessory deep",MONDO:0008229,,MeSH ID:C536001,,,,OMIM ID:170980 +BMGC_DS12482,BMG_DS041321,"Normokalemic Periodic Paralysis, Potassium-Sensitive",UMLS ID:C1868433,,,,,,,,MeSH ID:C566809,,,, +BMGC_DS12483,BMG_DS041325,Pelvis-Shoulder Dysplasia,UMLS ID:C1868508,,,,,pelvis-shoulder dysplasia,MONDO:0008217,,MeSH ID:C566811,,,,OMIM ID:169550 +BMGC_DS12484,BMG_DS041326,Pelvic Lipomatosis with Crossed Renal Ectopia,UMLS ID:C1868511,,,,,pelvic lipomatosis with crossed renal ectopia,MONDO:0008216,,MeSH ID:C566812,,,,OMIM ID:169545 +BMGC_DS12485,BMG_DS041327,"Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",UMLS ID:C1868512,,,,,adult-onset autosomal dominant demyelinating leukodystrophy,MONDO:0008215,,MeSH ID:C566813,,,,OMIM ID:169500 +BMGC_DS12486,BMG_DS041328,Pechet Factor Deficiency,UMLS ID:C1868545,,,,,Pechet factor deficiency,MONDO:0008212,,MeSH ID:C566814,,,,OMIM ID:169200 +BMGC_DS12487,BMG_DS041330,Patterned dystrophy of retinal pigment epithelium,UMLS ID:C1868569,,,,,patterned dystrophy of the retinal pigment epithelium,MONDO:0018973,,MeSH ID:C536309,,,, +BMGC_DS12488,BMG_DS041331,CHAR SYNDROME,UMLS ID:C1868570,,,,,Char syndrome,MONDO:0008209,,,,,,OMIM ID:601601 | OMIM ID:169100 +BMGC_DS12489,BMG_DS041333,"Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia",UMLS ID:C1868576,,,,,benign paroxysmal tonic upgaze of childhood with ataxia,MONDO:0008206,,MeSH ID:C566817,,,,OMIM ID:168885 +BMGC_DS12490,BMG_DS041334,,UMLS ID:C1868577,,,,,patella aplasia/hypoplasia,MONDO:0008205,,,,,,OMIM ID:168860 +BMGC_DS12491,BMG_DS041335,"Patella aplasia, coxa vara, tarsal synostosis",UMLS ID:C1868581,,,,," | obsolete patella aplasia, coxa vara, and tarsal synostosis",MONDO:0008204,,MeSH ID:C536307,ischiocoxopodopatellar syndrome,DOID:0111382,,OMIM ID:168850 +BMGC_DS12492,BMG_DS041336,"Parotidomegaly, Hereditary Bilateral",UMLS ID:C1868590,,,,,"Parotidomegaly, hereditary bilateral",MONDO:0008202,,MeSH ID:C566821,,,,OMIM ID:168800 +BMGC_DS12493,BMG_DS041337,Perry Syndrome,UMLS ID:C1868594,,,,,Perry syndrome,MONDO:0008201,,MeSH ID:C566822,Perry syndrome,DOID:0060486,,OMIM ID:168605 +BMGC_DS12494,BMG_DS041338,"PARKINSON DISEASE 1, AUTOSOMAL DOMINANT",UMLS ID:C1868595,,,,,autosomal dominant Parkinson disease 1,MONDO:0008200,,,Parkinson's disease 1,DOID:0060367,,OMIM ID:163890 | OMIM ID:168601 +BMGC_DS12495,BMG_DS041340,Parietal Foramina With Cleidocranial Dysplasia,UMLS ID:C1868597,,,,,parietal foramina with cleidocranial dysplasia,MONDO:0008198,,MeSH ID:C566825,,,,OMIM ID:168550 +BMGC_DS12496,BMG_DS041341,,UMLS ID:C1868598,,,,,,,,,parietal foramina,DOID:0060285,, +BMGC_DS12497,BMG_DS041342,,UMLS ID:C1868599,,,,,parietal foramina 1,MONDO:0008197,,,,,,OMIM ID:168500 +BMGC_DS12498,BMG_DS041343,,UMLS ID:C1868616,,,,,parastremmatic dwarfism,MONDO:0008196,,,parastremmatic dwarfism,DOID:0111539,,OMIM ID:168400 +BMGC_DS12499,BMG_DS041344,Paramyotonia Congenita Without Cold Paralysis,UMLS ID:C1868619,,,,,,,Myotonic Disorders,MeSH ID:D020967,,,, +BMGC_DS12500,BMG_DS041345,Paragangliomas with Sensorineural Hearing Loss,UMLS ID:C1868633,,,,,,,,MeSH ID:C566831,,,, +BMGC_DS12501,BMG_DS041346,,UMLS ID:C1868647,,,,,"papillomatosis, florid, of nipple",MONDO:0008189,,,,,,OMIM ID:167950 +BMGC_DS12502,BMG_DS041347,,UMLS ID:C1868649,,,,,panic disorder 1,MONDO:0008187,,,,,,OMIM ID:167870 +BMGC_DS12503,BMG_DS041353,Nasopalpebral lipoma coloboma syndrome,UMLS ID:C1868660,Nasopalpebral lipoma coloboma syndrome (disorder) | Nasopalpebral lipoma coloboma syndrome,SNOMEDCT ID:723411003,,,nasopalpebral lipoma-coloboma syndrome,MONDO:0008182,,MeSH ID:C538338,,,,OMIM ID:167730 +BMGC_DS12504,BMG_DS041354,,UMLS ID:C1868661,,,,,"palmaris longus muscle, absence of",MONDO:0008181,,,,,,OMIM ID:167600 +BMGC_DS12505,BMG_DS041355,"NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE",UMLS ID:C1868672,,,,,"nephrotic syndrome, type 2",MONDO:0010974,,,nephrotic syndrome type 2,DOID:0080379,,OMIM ID:600995 +BMGC_DS12506,BMG_DS041356,"PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE",UMLS ID:C1868675,,,,,autosomal recessive juvenile Parkinson disease 2,MONDO:0010820,,,Parkinson's disease 2,DOID:0060368,,OMIM ID:600116 | OMIM ID:602544 +BMGC_DS12507,BMG_DS041357,PHOTOPAROXYSMAL RESPONSE 1,UMLS ID:C1868677,,,,,photoparoxysmal response 1,MONDO:0007559,,,,,,OMIM ID:132100 +BMGC_DS12508,BMG_DS041358,"Thanatophoric Dysplasia, Type I",UMLS ID:C1868678,,,,,thanatophoric dysplasia type 1,MONDO:0008546,,MeSH ID:C566844,,,,OMIM ID:187600 | OMIM ID:270230 +BMGC_DS12509,BMG_DS041359,"GRISCELLI SYNDROME, TYPE 2",UMLS ID:C1868679,,,,,Griscelli syndrome type 2,MONDO:0011872,,,Griscelli syndrome type 2,DOID:0060833,,OMIM ID:603868 | OMIM ID:607624 +BMGC_DS12510,BMG_DS041360,DYSTONIA 12,UMLS ID:C1868681,,,,,dystonia 12,MONDO:0007496,,,,,,OMIM ID:128235 | OMIM ID:182350 +BMGC_DS12511,BMG_DS041361,Paroxysmal kinesigenic choreoathetosis,UMLS ID:C1868682,Paroxysmal choreoathetosis | Paroxysmal choreoathetosis (disorder) | Paroxysmal dyskinesia | Paroxysmal kinesigenic dyskinesia (disorder) | Paroxysmal kinesigenic choreoathetosis | Paroxysmal kinesigenic dyskinesia | Paroxysmal kinesigenic choreoathetosis | Paroxysmal kinesigenic choreoathetosis (disorder),SNOMEDCT ID:49949003 | SNOMEDCT ID:609221008 | SNOMEDCT ID:51938001,,,episodic kinesigenic dyskinesia,MONDO:0044202,,MeSH ID:C537180,,,,OMIM ID:MTHU070263 +BMGC_DS12512,BMG_DS041362,,UMLS ID:C1868683,,,,,"leukemia, chronic lymphocytic, susceptibility to, 2",MONDO:0007190,,,,,,OMIM ID:109543 +BMGC_DS12513,BMG_DS041363,"EAR, PATELLA, SHORT STATURE SYNDROME",UMLS ID:C1868684,,,,,Meier-Gorlin syndrome,MONDO:0016817,,,Meier-Gorlin syndrome 1 | Meier-Gorlin syndrome,DOID:0060306;DOID:0080512,,OMIM ID:224690 +BMGC_DS12514,BMG_DS041364,,UMLS ID:C1868685,,,,,"multiple sclerosis, susceptibility to",MONDO:0007462,,,,,, +BMGC_DS12515,BMG_DS041365,Shone complex,UMLS ID:C1868705,Shone complex | Shone syndrome | Shone complex (disorder),SNOMEDCT ID:41371000119100,,,shone complex,MONDO:0020404,,,,,, +BMGC_DS12516,BMG_DS041368,Periventricular Nodular Heterotopia,UMLS ID:C1868720,,,,,periventricular nodular heterotopia,MONDO:0020341,Periventricular Nodular Heterotopia,MeSH ID:D054091,periventricular nodular heterotopia,DOID:0050454,, +BMGC_DS12517,BMG_DS041371,diabetic encephalopathy,UMLS ID:C1868773,,,,,diabetic encephalopathy,MONDO:0000489,,MeSH ID:C000721848,,,, +BMGC_DS12518,BMG_DS041374,,UMLS ID:C1868854,,,,,penoscrotal transposition,MONDO:0017285,,,,,, +BMGC_DS12519,BMG_DS041375,Irritable bowel syndrome characterized by constipation,UMLS ID:C1868889,Irritable bowel syndrome characterized by constipation (disorder) | Constipation predominant irritable bowel syndrome | Irritable bowel syndrome characterised by constipation | Irritable bowel syndrome characterized by constipation,SNOMEDCT ID:440630006,,,,,,,,,, +BMGC_DS12520,BMG_DS041378,"Weill-Marchesani Syndrome, Autosomal Recessive",UMLS ID:C1869114,,,,,,,Weill-Marchesani Syndrome,MeSH ID:D056846,Weill-Marchesani syndrome,DOID:0050475,, +BMGC_DS12521,BMG_DS041379,"Weill-Marchesani Syndrome, Autosomal Dominant",UMLS ID:C1869115,,,,,"Weill-Marchesani syndrome 2, dominant",MONDO:0012013,Weill-Marchesani Syndrome,MeSH ID:D056846,Weill-Marchesani syndrome,DOID:0050475,,OMIM ID:608328 +BMGC_DS12522,BMG_DS041380,,UMLS ID:C1869116,,,,,inherited susceptibility to asthma,MONDO:0010940,,,,,,OMIM ID:600807 +BMGC_DS12523,BMG_DS041381,Paroxysmal nonkinesigenic dyskinesia,UMLS ID:C1869117,Mount-Reback syndrome | Paroxysmal dystonic choreoathetosis | Paroxysmal nonkinesigenic dyskinesia (disorder) | Paroxysmal nonkinesigenic dyskinesia | Familial paroxysmal choreoathetosis,SNOMEDCT ID:609218006,,,paroxysmal nonkinesigenic dyskinesia,MONDO:0700088,,,,,,OMIM ID:MTHU000808 +BMGC_DS12524,BMG_DS041382,,UMLS ID:C1869118,,,,,"hypothyroidism, congenital, nongoitrous, 2",MONDO:0024264,,,,,,OMIM ID:218700 +BMGC_DS12525,BMG_DS041383,,UMLS ID:C1869122,,,,,,,,,Ehlers-Danlos syndrome spondylodysplastic type 2,DOID:0050802,, +BMGC_DS12526,BMG_DS041384,Limb-girdle muscular dystrophy type 2A,UMLS ID:C1869123,,,,,autosomal recessive limb-girdle muscular dystrophy type 2A,MONDO:0009675,,MeSH ID:C535895,,,,OMIM ID:253600 +BMGC_DS12527,BMG_DS041385,"CEROID LIPOFUSCINOSIS, NEURONAL, 2",UMLS ID:C1876161,,,,,neuronal ceroid lipofuscinosis 2,MONDO:0008769,,,,,,OMIM ID:204500 | OMIM ID:607998 +BMGC_DS12528,BMG_DS041387,Copper-Overload Cirrhosis,UMLS ID:C1876165,,,,,,,,MeSH ID:C566858,,,, +BMGC_DS12529,BMG_DS041392,,UMLS ID:C1876174,,,,,"asthma, aspirin-induced, susceptibility to",MONDO:0800415,,,,,, +BMGC_DS12530,BMG_DS041393,Ataxia-Telangiectasia Variant,UMLS ID:C1876175,,,,,ataxia - telangiectasia variant,MONDO:0018266,,MeSH ID:C566865,,,, +BMGC_DS12531,BMG_DS041395,,UMLS ID:C1876177,,,,,"restless legs syndrome, susceptibility to, 1",MONDO:0007053,,,,,,OMIM ID:102300 +BMGC_DS12532,BMG_DS041396,,UMLS ID:C1876179,,,,,"arteries, anomalies of",MONDO:0007153,,,,,,OMIM ID:108000 +BMGC_DS12533,BMG_DS041397,"EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS",UMLS ID:C1876181,,,,,external auditory canal atresia-vertical talus-hypertelorism syndrome,MONDO:0007587,,,,,,OMIM ID:133705 +BMGC_DS12534,BMG_DS041398,"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",UMLS ID:C1876182,,,,,congenital stationary night blindness autosomal dominant 2,MONDO:0008099,,,congenital stationary night blindness autosomal dominant 2,DOID:0110863,,OMIM ID:163500 | OMIM ID:180072 +BMGC_DS12535,BMG_DS041399,,UMLS ID:C1876184,,,,,calcaneonavicular coalition,MONDO:0008518,,,,,,OMIM ID:186400 +BMGC_DS12536,BMG_DS041400,Dysgnathia complex,UMLS ID:C1876185,,,,,,,,MeSH ID:C537996,,,, +BMGC_DS12537,BMG_DS041401,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",UMLS ID:C1876187,,,,,familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome,MONDO:0100251,,,,,,OMIM ID:211900 +BMGC_DS12538,BMG_DS041402,,UMLS ID:C1876203,,,,,frontonasal dysplasia,MONDO:0016643,,,,,, +BMGC_DS12539,BMG_DS041404,Hereditary bundle branch system defect,UMLS ID:C1879286,,,,,"progressive familial heart block, type 1A",MONDO:0007240,,MeSH ID:C566873,,,,OMIM ID:113900 +BMGC_DS12540,BMG_DS041405,,UMLS ID:C1879321,,,,,acute myeloblastic leukemia with maturation,MONDO:0020320,,,acute myeloid leukemia with maturation,DOID:0081087,, +BMGC_DS12541,BMG_DS041408,Hypertyrosinemia,UMLS ID:C1879362,Tyrosinemia | Tyrosinaemia | Tyrosinemia (disorder) | Hypertyrosinemia | Elevated tyrosine blood level | Hypertyrosinaemia | Hypertyrosinemia (disorder),SNOMEDCT ID:190694001 | SNOMEDCT ID:56595005,,,,,,,,,ICD10 ID:E70.21, +BMGC_DS12542,BMG_DS041414,Inappropriate sinus tachycardia,UMLS ID:C1881170,Inappropriate sinus tachycardia (disorder) | Inappropriate sinus tachycardia,SNOMEDCT ID:425582007,,,,,,,,,, +BMGC_DS12543,BMG_DS041421,,UMLS ID:C1883486,,,,,uterine corpus cancer,MONDO:0006003,,,,,, +BMGC_DS12544,BMG_DS041431,Human Herpesvirus 6 encephalitis,UMLS ID:C1955629,,,,,HHV-6 encephalitis,MONDO:0027029,,MeSH ID:C538117,,,, +BMGC_DS12545,BMG_DS041434,Glucocorticoid deficiency,UMLS ID:C1955741,,,,,,,,,,,,OMIM ID:MTHU059312 +BMGC_DS12546,BMG_DS041445,,UMLS ID:C1955861,,,,,T-cell large granular lymphocyte leukemia,MONDO:0019469,,,,,, +BMGC_DS12547,BMG_DS041446,Malformations of Cortical Development,UMLS ID:C1955869,,,,,,,Malformations of Cortical Development,MeSH ID:D054220,,,, +BMGC_DS12548,BMG_DS041447,Classical Lissencephalies and Subcortical Band Heterotopias,UMLS ID:C1955870,,,,,,,Classical Lissencephalies and Subcortical Band Heterotopias,MeSH ID:D054221,chromosome 17p13.1 deletion syndrome,DOID:0060402,, +BMGC_DS12549,BMG_DS041449,Trichothiodystrophy Syndromes,UMLS ID:C1955934,,,,,trichothiodystrophy,MONDO:0018053,Trichothiodystrophy Syndromes,MeSH ID:D054463,trichothiodystrophy | photosensitive trichothiodystrophy | nonphotosensitive trichothiodystrophy 5,DOID:0111868;DOID:0111866;DOID:2960,, +BMGC_DS12550,BMG_DS041451,Paris-Trousseau Thrombocytopenia,UMLS ID:C1956093,,,,,Paris-Trousseau thrombocytopenia,MONDO:0008557,Jacobsen Distal 11q Deletion Syndrome,MeSH ID:D054868,Jacobsen Syndrome,DOID:0111723,,OMIM ID:188025 +BMGC_DS12551,BMG_DS041452,Wolf-Hirschhorn Syndrome,UMLS ID:C1956097,,,,,Wolf-Hirschhorn syndrome,MONDO:0008684,Wolf-Hirschhorn Syndrome,MeSH ID:D054877,Wolf-Hirschhorn syndrome,DOID:0050460,,OMIM ID:194190 +BMGC_DS12552,BMG_DS041453,Alagille Syndrome 1,UMLS ID:C1956125,,,,,Alagille syndrome due to a JAG1 point mutation,MONDO:0016862,Alagille Syndrome,MeSH ID:D016738,,,,OMIM ID:118450 +BMGC_DS12553,BMG_DS041454,,UMLS ID:C1956147,,,,,microlissencephaly,MONDO:0015204,,,,,, +BMGC_DS12554,BMG_DS041456,"Hematoma, Basal Ganglia",UMLS ID:C1956233,,,,,,,Basal Ganglia Hemorrhage,MeSH ID:D020145,,,, +BMGC_DS12555,BMG_DS041459,Pulmonary Stenosis,UMLS ID:C1956257,,,,,pulmonic stenosis | valvar pulmonary stenosis,MONDO:0020395;MONDO:0009938,Pulmonary Valve Stenosis,MeSH ID:D011666,,,,OMIM ID:265500 +BMGC_DS12556,BMG_DS041460,Familial Thrombotic Thrombocytopenic Purpura,UMLS ID:C1956258,,,,,,,"Purpura, Thrombotic Thrombocytopenic",MeSH ID:D011697,,,, +BMGC_DS12557,BMG_DS041461,Coronary Artery Disease,UMLS ID:C1956346,,,,,coronary artery disorder,MONDO:0005010,Coronary Artery Disease,MeSH ID:D003324,,,, +BMGC_DS12558,BMG_DS041462,"Cerebral Amyloid Angiopathy, Genetic",UMLS ID:C1956349,,,,,,,"Cerebral Amyloid Angiopathy, Familial",MeSH ID:D028243,cerebral amyloid angiopathy,DOID:9246,, +BMGC_DS12559,BMG_DS041464,Cranial Arteritis,UMLS ID:C1956390,,,,,,,Giant Cell Arteritis,MeSH ID:D013700,,,, +BMGC_DS12560,BMG_DS041465,Temporal Arteritis,UMLS ID:C1956391,,,,,temporal arteritis,MONDO:0008538,Giant Cell Arteritis,MeSH ID:D013700,,,,OMIM ID:187360 +BMGC_DS12561,BMG_DS041469,"Double Outlet Right Ventricle, Subaortic VSD",UMLS ID:C1956411,,,,,,,Double Outlet Right Ventricle,MeSH ID:D004310,,,, +BMGC_DS12562,BMG_DS041473,PTEN Hamartoma Tumor Syndrome,UMLS ID:C1959582,,,,,PTEN hamartoma tumor syndrome,MONDO:0017623,"Hamartoma Syndrome, Multiple",MeSH ID:D006223,Bannayan-Riley-Ruvalcaba syndrome,DOID:0050657,, +BMGC_DS12563,BMG_DS041474,Myocardial Failure,UMLS ID:C1959583,,,,,,,Heart Failure,MeSH ID:D006333,,,, +BMGC_DS12564,BMG_DS041478,Dihydropyrimidine Dehydrogenase Deficiency,UMLS ID:C1959620,,,,,dihydropyrimidine dehydrogenase deficiency,MONDO:0010130,Dihydropyrimidine Dehydrogenase Deficiency,MeSH ID:D054067,dihydropyrimidine dehydrogenase deficiency,DOID:14218,,OMIM ID:274270 +BMGC_DS12565,BMG_DS041479,Mevalonic Aciduria,UMLS ID:C1959626,,,,,mevalonic aciduria,MONDO:0012481,Mevalonate Kinase Deficiency,MeSH ID:D054078,mevalonic aciduria,DOID:0050452,,OMIM ID:610377 +BMGC_DS12566,BMG_DS041484,Calcium renal calculus,UMLS ID:C1959799,Calcium renal calculus (disorder) | Calcium renal calculus,SNOMEDCT ID:427649000,,,,,,,,,, +BMGC_DS12567,BMG_DS041499,Aphthous ulceration of skin and/or mucous membrane (disorder),UMLS ID:C1959869,Aphthous ulceration of skin and/or mucous membrane (disorder) | Aphthous ulceration of skin and/or mucous membrane | Aphthous ulceration | Aphthosis | Aphthous ulcer,SNOMEDCT ID:427617000,,,,,,,,,, +BMGC_DS12568,BMG_DS041545,,UMLS ID:C1960398,,,,,HER2 positive breast carcinoma,MONDO:0006244,,,,,, +BMGC_DS12569,BMG_DS041558,Hereditary angioedema with normal C1 esterase inhibitor activity,UMLS ID:C1960459,Hereditary angioneurotic oedema with normal C1 esterase inhibitor activity | Hereditary angioedema - type 3 | Hereditary angio-oedema with normal C1 esterase inhibitor activity | Hereditary angioedema with normal C1 esterase inhibitor activity | Hereditary angioneurotic edema with normal C1 esterase inhibitor activity | Hereditary angioedema with normal C1 esterase inhibitor activity (disorder),SNOMEDCT ID:427167008,,,hereditary angioedema with normal C1Inh,MONDO:0100567,,,,,, +BMGC_DS12570,BMG_DS041561,Left ventricular noncompaction,UMLS ID:C1960469,Left ventricular noncompaction (disorder) | Left ventricular noncompaction,SNOMEDCT ID:427608000,,,left ventricular noncompaction,MONDO:0018901,,,,,,OMIM ID:MTHU038630 +BMGC_DS12571,BMG_DS041572,Aromatase deficiency,UMLS ID:C1960539,,,,,aromatase deficiency,MONDO:0013301,,MeSH ID:C537436,,,,OMIM ID:613546 +BMGC_DS12572,BMG_DS041593,Long-chain fatty acid transport deficiency,UMLS ID:C1960675,Long-chain fatty acid transport deficiency (disorder) | Long-chain fatty acid transport deficiency,SNOMEDCT ID:426387005,,,,,,,,,, +BMGC_DS12573,BMG_DS041602,Crohn's disease in remission,UMLS ID:C1960764,Crohn's disease in remission (disorder) | Crohn's disease in remission | Crohn disease in remission,SNOMEDCT ID:426549001,,,,,,,,,, +BMGC_DS12574,BMG_DS041621,Right-sided Staphylococcus aureus endocarditis,UMLS ID:C1960924,Right-sided Staphylococcus aureus endocarditis (disorder) | Right-sided Staphylococcus aureus endocarditis,SNOMEDCT ID:426087004,,,,,,,,,, +BMGC_DS12575,BMG_DS041630,,UMLS ID:C1961099,,,,,T-cell acute lymphoblastic leukemia,MONDO:0004963,,,,,, +BMGC_DS12576,BMG_DS041635,"Gaucher Disease, Type 1",UMLS ID:C1961835,,,,,Gaucher disease type I,MONDO:0009265,Gaucher Disease,MeSH ID:D005776,,,,OMIM ID:230800 +BMGC_DS12577,BMG_DS041641,Spinocerebellar Ataxia 10,UMLS ID:C1963674,,,,,spinocerebellar ataxia type 10,MONDO:0011330,,MeSH ID:C566874,,,,OMIM ID:603516 +BMGC_DS12578,BMG_DS041652,"ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",UMLS ID:C1968556,,,,,severe neonatal-onset encephalopathy with microcephaly,MONDO:0010397,,,severe congenital encephalopathy due to MECP2 mutation,DOID:0111932,,OMIM ID:300673 +BMGC_DS12579,BMG_DS041653,"Xeroderma Pigmentosum, Type G-Cockayne Syndrome",UMLS ID:C1968561,,,,,"xeroderma pigmentosum, type G/Cockayne syndrome",MONDO:0800314,,MeSH ID:C566879,,,, +BMGC_DS12580,BMG_DS041654,Respiratory Distress Syndrome In Premature Infants,UMLS ID:C1968593,,,,,respiratory distress syndrome in premature infants,MONDO:0009971,,MeSH ID:C566881,,,,OMIM ID:267450 +BMGC_DS12581,BMG_DS041655,"Surfactant Metabolism Dysfunction, Pulmonary, 1",UMLS ID:C1968602,,,,,"surfactant metabolism dysfunction, pulmonary, 1",MONDO:0009929,,MeSH ID:C566882,,,,OMIM ID:265120 +BMGC_DS12582,BMG_DS041656,"Osteopetrosis, Autosomal Recessive 5",UMLS ID:C1968603,,,,,autosomal recessive osteopetrosis 5,MONDO:0009817,,MeSH ID:C566883,,,,OMIM ID:259720 +BMGC_DS12583,BMG_DS041657,"Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies",UMLS ID:C1968637,,,,,"microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies",MONDO:0009632,,MeSH ID:C566884,,,,OMIM ID:251700 +BMGC_DS12584,BMG_DS041658,,UMLS ID:C1968668,,,,,"leprosy, susceptibility to, 3",MONDO:0009518,,,,,,OMIM ID:246300 +BMGC_DS12585,BMG_DS041659,,UMLS ID:C1968689,,,,,,,,,hyper IgE recurrent infection syndrome 1,DOID:3261,, +BMGC_DS12586,BMG_DS041661,Glycogen Storage Disease IIIA,UMLS ID:C1968739,,,,,,,,MeSH ID:C566889,,,, +BMGC_DS12587,BMG_DS041662,Glycogen Storage Disease IIIB,UMLS ID:C1968740,,,,,,,,MeSH ID:C566890,,,, +BMGC_DS12588,BMG_DS041663,Glycogen Storage Disease IIIC,UMLS ID:C1968741,,,,,,,,MeSH ID:C566891,,,, +BMGC_DS12589,BMG_DS041666,"Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",UMLS ID:C1968748,,,,,,,,MeSH ID:C566895,,,, +BMGC_DS12590,BMG_DS041668,"MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",UMLS ID:C1968782,,,,,"myopathy, congenital, with excess of muscle spindles",MONDO:0800299,,,,,,OMIM ID:190020 | OMIM ID:218040 +BMGC_DS12591,BMG_DS041669,"Plasminogen Deficiency, Type I",UMLS ID:C1968804,,,,,hypoplasminogenemia,MONDO:0009009,,MeSH ID:C566897,plasminogen deficiency type I,DOID:0111592,,OMIM ID:217090 +BMGC_DS12592,BMG_DS041672,"Microphthalmia, Isolated, with Coloboma 5",UMLS ID:C1968843,,,,,"microphthalmia, isolated, with coloboma 5",MONDO:0012709,,MeSH ID:C566899,,,,OMIM ID:611638 +BMGC_DS12593,BMG_DS041673,"Primary Lateral Sclerosis, Adult, 1",UMLS ID:C1968845,,,,,"primary lateral sclerosis, adult, 1",MONDO:0012708,,MeSH ID:C566900,,,,OMIM ID:611637 +BMGC_DS12594,BMG_DS041674,"Febrile Convulsions, Familial, 9",UMLS ID:C1968846,,,,,familial febrile seizures 9,MONDO:0012707,,MeSH ID:C566901,,,,OMIM ID:611634 +BMGC_DS12595,BMG_DS041675,"Epilepsy, Familial Temporal Lobe, 4",UMLS ID:C1968847,,,,,familial temporal lobe epilepsy 4,MONDO:0012706,,MeSH ID:C566902,,,,OMIM ID:611631 +BMGC_DS12596,BMG_DS041676,"Epilepsy, Familial Mesial Temporal Lobe",UMLS ID:C1968848,,,,,familial temporal lobe epilepsy 3,MONDO:0012705,,MeSH ID:C566903,,,,OMIM ID:611630 +BMGC_DS12597,BMG_DS041677,"Preauricular Tag, Isolated, Autosomal Dominant, 1",UMLS ID:C1968893,,,,,"preauricular tag, isolated, autosomal dominant, 1",MONDO:0012486,,MeSH ID:C566904,,,,OMIM ID:610420 +BMGC_DS12598,BMG_DS041678,,UMLS ID:C1968924,,,,,"autism, susceptibility to, 1",MONDO:0800416,,,,,, +BMGC_DS12599,BMG_DS041679,,UMLS ID:C1968949,,,,,congenital anomaly of kidney and urinary tract,MONDO:0019719,,,,,, +BMGC_DS12600,BMG_DS041680,"CARDIOMYOPATHY, DILATED, 1X",UMLS ID:C1969024,,,,,dilated cardiomyopathy 1X,MONDO:0012704,,,,,,OMIM ID:607440 | OMIM ID:611615 +BMGC_DS12601,BMG_DS041681,Lissencephaly 3,UMLS ID:C1969029,,,,,lissencephaly type 3,MONDO:0015148,,MeSH ID:C566908,lissencephaly 3,DOID:0112232,, +BMGC_DS12602,BMG_DS041684,"Cataract, Autosomal Dominant, Multiple Types 1",UMLS ID:C1969032,,,,,,,,MeSH ID:C566909,,,, +BMGC_DS12603,BMG_DS041685,"Renal Tubular Acidosis, Distal, With Hemolytic Anemia",UMLS ID:C1969038,,,,,,,,MeSH ID:C566910,,,, +BMGC_DS12604,BMG_DS041686,"Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",UMLS ID:C1969039,,,,,,,,MeSH ID:C566911,,,, +BMGC_DS12605,BMG_DS041687,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",UMLS ID:C1969040,,,,,autosomal recessive limb-girdle muscular dystrophy type 2M,MONDO:0012699,,,,,,OMIM ID:611588 +BMGC_DS12606,BMG_DS041688,OTOSCLEROSIS 7,UMLS ID:C1969044,,,,,otosclerosis 7,MONDO:0012697,,,otosclerosis 7,DOID:0060925,,OMIM ID:611572 +BMGC_DS12607,BMG_DS041689,OTOSCLEROSIS 4,UMLS ID:C1969046,,,,,otosclerosis 4,MONDO:0012696,,,otosclerosis 4,DOID:0060923,,OMIM ID:611571 +BMGC_DS12608,BMG_DS041690,"MECKEL SYNDROME, TYPE 5",UMLS ID:C1969052,,,,,"Meckel syndrome, type 5",MONDO:0012695,,,,,,OMIM ID:610937 | OMIM ID:611561 +BMGC_DS12609,BMG_DS041691,JOUBERT SYNDROME 7,UMLS ID:C1969053,,,,,Joubert syndrome 7,MONDO:0012694,,,,,,OMIM ID:611560 | OMIM ID:610937 +BMGC_DS12610,BMG_DS041692,"Glycogen Storage Disease 0, Muscle",UMLS ID:C1969054,,,,,glycogen storage disease due to muscle and heart glycogen synthase deficiency,MONDO:0012693,,MeSH ID:C566917,,,,OMIM ID:611556 +BMGC_DS12611,BMG_DS041693,"Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies",UMLS ID:C1969055,,,,,"renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies",MONDO:0012692,,MeSH ID:C566918,,,,OMIM ID:611555 +BMGC_DS12612,BMG_DS041694,LEOPARD SYNDROME 2,UMLS ID:C1969056,,,,,LEOPARD syndrome 2,MONDO:0012691,,,,,,OMIM ID:164760 | OMIM ID:611554 +BMGC_DS12613,BMG_DS041695,Noonan Syndrome 5,UMLS ID:C1969057,,,,,Noonan syndrome 5,MONDO:0012690,,MeSH ID:C548083,Noonan syndrome 5,DOID:0060583,,OMIM ID:611553 +BMGC_DS12614,BMG_DS041696,Premature Ovarian Failure 5,UMLS ID:C1969060,,,,,premature ovarian failure 5,MONDO:0012689,,MeSH ID:C566921,,,,OMIM ID:611548 +BMGC_DS12615,BMG_DS041697,"Cataract, Congenital Nuclear, Autosomal Recessive 3",UMLS ID:C1969062,,,,,,,,MeSH ID:C566923,,,, +BMGC_DS12616,BMG_DS041698,,UMLS ID:C1969063,,,,,familial cavitary optic disk anomaly,MONDO:0012687,,,,,,OMIM ID:611543 +BMGC_DS12617,BMG_DS041700,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",UMLS ID:C1969081,,,,,arrhythmogenic right ventricular dysplasia 12,MONDO:0012684,,MeSH ID:C566925,,,,OMIM ID:611528 +BMGC_DS12618,BMG_DS041701,Pontocerebellar Hypoplasia Type 6,UMLS ID:C1969084,,,,,pontocerebellar hypoplasia type 6,MONDO:0012683,,MeSH ID:C548074,pontocerebellar hypoplasia type 6,DOID:0060275,,OMIM ID:611523 +BMGC_DS12619,BMG_DS041702,Tyrosine Kinase 2 Deficiency,UMLS ID:C1969086,,,,,immunodeficiency 35,MONDO:0012682,,MeSH ID:C566928,immunodeficiency 35,DOID:0111989,,OMIM ID:611521 +BMGC_DS12620,BMG_DS041704,NEPHRONOPHTHISIS 7,UMLS ID:C1969092,,,,,nephronophthisis 7,MONDO:0012680,,,,,,OMIM ID:608539 | OMIM ID:611498 +BMGC_DS12621,BMG_DS041705,"Osteopetrosis, Autosomal Recessive 6",UMLS ID:C1969093,,,,,autosomal recessive osteopetrosis 6,MONDO:0012679,,MeSH ID:C566931,,,,OMIM ID:611497 +BMGC_DS12622,BMG_DS041706,"Atrial Fibrillation, Familial, 5",UMLS ID:C1969099,,,,,"atrial fibrillation, familial, 5",MONDO:0012678,,MeSH ID:C566932,,,,OMIM ID:611494 +BMGC_DS12623,BMG_DS041707,"Osteopetrosis, Autosomal Recessive 4",UMLS ID:C1969106,,,,,autosomal recessive osteopetrosis 4,MONDO:0012676,,MeSH ID:C566933,,,,OMIM ID:611490 +BMGC_DS12624,BMG_DS041710,GALLBLADDER DISEASE 4,UMLS ID:C1969115,,,,,,,,,,,,OMIM ID:605460 | OMIM ID:611465 +BMGC_DS12625,BMG_DS041711,"PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",UMLS ID:C1969342,,,,,,,,,,,,OMIM ID:600799 | OMIM ID:178600 +BMGC_DS12626,BMG_DS041712,"Pulmonary Hypertension, Primary, Fenfluramine-Associated",UMLS ID:C1969343,,,,,,,Familial Primary Pulmonary Hypertension,MeSH ID:D065627,,,, +BMGC_DS12627,BMG_DS041714,Trifunctional Protein Deficiency With Myopathy And Neuropathy,UMLS ID:C1969443,,,,,mitochondrial trifunctional protein deficiency,MONDO:0012172,,MeSH ID:C566945,mitochondrial trifunctional protein deficiency,DOID:0111277,, +BMGC_DS12628,BMG_DS041718,,UMLS ID:C1969562,,,,,"intellectual disability, autosomal dominant 1",MONDO:0007974,,,,,,OMIM ID:156200 +BMGC_DS12629,BMG_DS041721,"DEAFNESS, AUTOSOMAL RECESSIVE 63",UMLS ID:C1969621,,,,,autosomal recessive nonsyndromic hearing loss 63,MONDO:0012670,,,,,,OMIM ID:611451 | OMIM ID:612414 +BMGC_DS12630,BMG_DS041722,Neurofibromatosis type 1-like syndrome,UMLS ID:C1969623,Legius syndrome | Neurofibromatosis type 1-like syndrome (disorder) | NFLS - neurofibromatosis type 1-like syndrome | Neurofibromatosis type 1-like syndrome,SNOMEDCT ID:703541007,,,Legius syndrome,MONDO:0012669,,,Legius syndrome,DOID:0070484,,OMIM ID:611431 +BMGC_DS12631,BMG_DS041724,"Cardiomyopathy, Dilated, 1w",UMLS ID:C1969639,,,,,dilated cardiomyopathy 1W,MONDO:0012667,,MeSH ID:C566954,,,,OMIM ID:611407 +BMGC_DS12632,BMG_DS041726,"Cataract, Cortical, Juvenile-Onset",UMLS ID:C1969644,,,,,,,,MeSH ID:C566955,,,, +BMGC_DS12633,BMG_DS041727,"Ataxia, Spastic, 3, Autosomal Recessive",UMLS ID:C1969645,,,,,spastic ataxia 3,MONDO:0012664,,MeSH ID:C566956,,,,OMIM ID:611390 +BMGC_DS12634,BMG_DS041730,"Macular Degeneration, Age-Related, 9",UMLS ID:C1969651,,,,,age related macular degeneration 9,MONDO:0012659,,MeSH ID:C566958,,,,OMIM ID:611378 +BMGC_DS12635,BMG_DS041731,Brachydactyly type B2,UMLS ID:C1969652,Brachydactyly type B2 (disorder) | Brachydactyly type B2,SNOMEDCT ID:770406002,,,brachydactyly type B2,MONDO:0012658,,,,,,OMIM ID:611377 +BMGC_DS12636,BMG_DS041732,MUNGAN SYNDROME,UMLS ID:C1969653,,,,,Mungan syndrome,MONDO:0012657,,,,,,OMIM ID:606462 | OMIM ID:611376 +BMGC_DS12637,BMG_DS041733,,UMLS ID:C1969655,,,,,lethal congenital contracture syndrome 3,MONDO:0012656,,,,,,OMIM ID:611369 +BMGC_DS12638,BMG_DS041734,"MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4",UMLS ID:C1969656,,,,,"myoclonic epilepsy, juvenile, susceptibility to, 4",MONDO:0012655,,,juvenile myoclonic epilepsy 4,DOID:0111327,,OMIM ID:611364 +BMGC_DS12639,BMG_DS041735,Atrial Septal Defect 4,UMLS ID:C1969657,,,,,atrial septal defect 4,MONDO:0012654,,MeSH ID:C566963,,,,OMIM ID:611363 +BMGC_DS12640,BMG_DS041736,,UMLS ID:C1969710,,,,,"autism, susceptibility to, 8",MONDO:0011824,,,,,,OMIM ID:607373 +BMGC_DS12641,BMG_DS041737,"Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",UMLS ID:C1969783,,,,,"persistent hyperplastic primary vitreous, autosomal recessive",MONDO:0009097,,MeSH ID:C566966,,,,OMIM ID:221900 +BMGC_DS12642,BMG_DS041739,"Muscular Dystrophy, Limb-Girdle, Type 2L",UMLS ID:C1969785,,,,,autosomal recessive limb-girdle muscular dystrophy type 2L,MONDO:0012652,,MeSH ID:C566968,,,,OMIM ID:611307 +BMGC_DS12643,BMG_DS041740,"Ataxia, Spastic, 2, Autosomal Recessive",UMLS ID:C1969796,,,,,spastic ataxia 2,MONDO:0012651,,MeSH ID:C566969,,,,OMIM ID:611302 +BMGC_DS12644,BMG_DS041741,"Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation",UMLS ID:C1969799,,,,,Cernunnos-XLF deficiency,MONDO:0012650,,MeSH ID:C566970,,,,OMIM ID:611291 +BMGC_DS12645,BMG_DS041742,"Dystonia, Focal, Task-Specific",UMLS ID:C1969807,,,,,"dystonia, focal, task-specific",MONDO:0044871,,MeSH ID:C566973,,,,OMIM ID:611284 +BMGC_DS12646,BMG_DS041743,Isobutyryl-CoA dehydrogenase deficiency,UMLS ID:C1969809,,,,,isobutyryl-CoA dehydrogenase deficiency,MONDO:0012648,,MeSH ID:C535541,,,,OMIM ID:611283 +BMGC_DS12647,BMG_DS041744,,UMLS ID:C1969810,,,,,"febrile seizures, familial, 8",MONDO:0011891,,,,,,OMIM ID:611277 | OMIM ID:607681 +BMGC_DS12648,BMG_DS041745,"Glaucoma 1, Open Angle, H",UMLS ID:C1969811,,,,,"obsolete glaucoma 1, open angle, H",MONDO:0012646,,MeSH ID:C566976,,,,OMIM ID:611276 +BMGC_DS12649,BMG_DS041749,,UMLS ID:C1969893,,,,,"intellectual disability, FRA12A type",MONDO:0007634,,,,,,OMIM ID:136630 +BMGC_DS12650,BMG_DS041752,Asphyxiating Thoracic Dystrophy 2,UMLS ID:C1970005,,,,,asphyxiating thoracic dystrophy 2,MONDO:0012644,,MeSH ID:C566982,asphyxiating thoracic dystrophy 2,DOID:0110086,,OMIM ID:611263 +BMGC_DS12651,BMG_DS041753,"SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE",UMLS ID:C1970009,,,,,hereditary spastic paraplegia 32,MONDO:0012643,,,,,,OMIM ID:611252 +BMGC_DS12652,BMG_DS041755,"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",UMLS ID:C1970011,,,,,Charcot-Marie-Tooth disease type 4J,MONDO:0012640,,,,,,OMIM ID:609390 | OMIM ID:611228 +BMGC_DS12653,BMG_DS041757,,UMLS ID:C1970020,,,,,"restless legs syndrome, susceptibility to, 6",MONDO:0012636,,,,,,OMIM ID:611185 +BMGC_DS12654,BMG_DS041758,"Congenital Disorder Of Glycosylation, Type IIH",UMLS ID:C1970021,,,,,COG8-congenital disorder of glycosylation,MONDO:0012635,,MeSH ID:C566987,congenital disorder of glycosylation type IIh,DOID:0070260,,OMIM ID:611182 +BMGC_DS12655,BMG_DS041759,"Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",UMLS ID:C1970027,,,,,craniofacial dysplasia - osteopenia syndrome,MONDO:0012634,,MeSH ID:C566988,,,,OMIM ID:611174 +BMGC_DS12656,BMG_DS041760,,UMLS ID:C1970028,,,,,"malaria, susceptibility to",MONDO:0021024,,,,,,OMIM ID:611162 +BMGC_DS12657,BMG_DS041763,"Bpes, Type I, Autosomal Recessive",UMLS ID:C1970106,,,,,,,,MeSH ID:C566222,,,, +BMGC_DS12658,BMG_DS041764,,UMLS ID:C1970107,,,,,spastic ataxia 1,MONDO:0007164,,,,,,OMIM ID:108600 +BMGC_DS12659,BMG_DS041765,AROMATASE EXCESS SYNDROME,UMLS ID:C1970109,,,,,aromatase excess syndrome,MONDO:0007690,,,,,,OMIM ID:139300 | OMIM ID:107910 +BMGC_DS12660,BMG_DS041768,"CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",UMLS ID:C1970119,,,,,"cardiac arrhythmia, ankyrin-B-related",MONDO:0010958,,,ankyrin-B-related cardiac arrhythmia,DOID:0111700,,OMIM ID:600919 | OMIM ID:106410 +BMGC_DS12661,BMG_DS041769,"Angioma serpiginosum, autosomal dominant",UMLS ID:C1970130,,,,,"angioma serpiginosum, autosomal dominant",MONDO:0007115,,MeSH ID:C536365,,,,OMIM ID:106050 +BMGC_DS12662,BMG_DS041774,Paroxysmal Nonkinesigenic Dyskinesia 2,UMLS ID:C1970149,,,,,paroxysmal nonkinesigenic dyskinesia 2,MONDO:0012629,,MeSH ID:C567001,paroxysmal nonkinesigenic dyskinesia 2,DOID:0090047,,OMIM ID:611147 +BMGC_DS12663,BMG_DS041776,"MECKEL SYNDROME, TYPE 4",UMLS ID:C1970161,,,,,"Meckel syndrome, type 4",MONDO:0012626,,,,,,OMIM ID:610142 | OMIM ID:611134 +BMGC_DS12664,BMG_DS041778,Retinitis Pigmentosa 37,UMLS ID:C1970163,,,,,retinitis pigmentosa 37,MONDO:0012625,,MeSH ID:C567005,retinitis pigmentosa 37,DOID:0110399,,OMIM ID:611131 +BMGC_DS12665,BMG_DS041779,"Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of",UMLS ID:C1970173,,,,,,,,MeSH ID:C567006,nuclear type mitochondrial complex I deficiency 20,DOID:0112072,, +BMGC_DS12666,BMG_DS041781,,UMLS ID:C1970179,,,,,"intellectual disability, autosomal recessive 4",MONDO:0012623,,,,,,OMIM ID:611107 +BMGC_DS12667,BMG_DS041782,Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation,UMLS ID:C1970180,,,,,leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,MONDO:0012622,,MeSH ID:C567009,,,,OMIM ID:611105 +BMGC_DS12668,BMG_DS041783,"Deafness, Sensorineural, And Male Infertility",UMLS ID:C1970187,,,,,deafness-infertility syndrome,MONDO:0012621,,MeSH ID:C567010,,,,OMIM ID:611102 +BMGC_DS12669,BMG_DS041785,,UMLS ID:C1970193,,,,,"intellectual disability, autosomal recessive 11",MONDO:0012619,,,,,,OMIM ID:611097 +BMGC_DS12670,BMG_DS041786,,UMLS ID:C1970194,,,,,"intellectual disability, autosomal recessive 10",MONDO:0012618,,,,,,OMIM ID:611096 +BMGC_DS12671,BMG_DS041787,,UMLS ID:C1970195,,,,,"intellectual disability, autosomal recessive 9",MONDO:0012617,,,,,,OMIM ID:611095 +BMGC_DS12672,BMG_DS041788,,UMLS ID:C1970197,,,,,"intellectual disability, autosomal recessive 7",MONDO:0012615,,,,,,OMIM ID:611093 +BMGC_DS12673,BMG_DS041789,,UMLS ID:C1970198,,,,,"intellectual disability, autosomal recessive 6",MONDO:0012614,,,,,,OMIM ID:611092 +BMGC_DS12674,BMG_DS041790,,UMLS ID:C1970199,,,,,"intellectual disability, autosomal recessive 5",MONDO:0012613,,,,,,OMIM ID:611091 +BMGC_DS12675,BMG_DS041791,,UMLS ID:C1970200,,,,,"intellectual disability, autosomal recessive 12",MONDO:0012612,,,,,,OMIM ID:611090 +BMGC_DS12676,BMG_DS041792,"Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy",UMLS ID:C1970203,,,,,"polyhydramnios, megalencephaly, and symptomatic epilepsy",MONDO:0012611,,MeSH ID:C567020,"polyhydramnios, megalencephaly, and symptomatic epilepsy",DOID:0070511,,OMIM ID:611087 +BMGC_DS12677,BMG_DS041793,Inflammatory Bowel Disease 10,UMLS ID:C1970207,,,,,inflammatory bowel disease 10,MONDO:0012610,,MeSH ID:C567021,inflammatory bowel disease 10,DOID:0110885,,OMIM ID:611081 +BMGC_DS12678,BMG_DS041795,"Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",UMLS ID:C1970211,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 4",MONDO:0012608,,MeSH ID:C567023,autosomal recessive distal hereditary motor neuronopathy 4,DOID:0111213,,OMIM ID:611067 +BMGC_DS12679,BMG_DS041796,,UMLS ID:C1970224,,,,,"asthma-related traits, susceptibility to, 5",MONDO:0012607,,,,,,OMIM ID:611064 +BMGC_DS12680,BMG_DS041798,"Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",UMLS ID:C1970236,,,,,isolated microphthalmia 5,MONDO:0012605,,MeSH ID:C567024,,,,OMIM ID:611040 +BMGC_DS12681,BMG_DS041799,"Microphthalmia, Isolated 3",UMLS ID:C1970237,,,,,,,,MeSH ID:C567025,,,, +BMGC_DS12682,BMG_DS041800,Episodic Kinesigenic Dyskinesia 2,UMLS ID:C1970238,,,,,episodic kinesigenic dyskinesia 2,MONDO:0012603,,MeSH ID:C567026,episodic kinesigenic dyskinesia 2,DOID:0090054,,OMIM ID:611031 +BMGC_DS12683,BMG_DS041801,"DEAFNESS, AUTOSOMAL RECESSIVE, 24",UMLS ID:C1970239,,,,,autosomal recessive nonsyndromic hearing loss 24,MONDO:0012602,,,,,,OMIM ID:611022 | OMIM ID:179410 +BMGC_DS12684,BMG_DS041802,,UMLS ID:C1970242,,,,,"autism, susceptibility to, 10",MONDO:0012601,,,,,,OMIM ID:611016 +BMGC_DS12685,BMG_DS041803,,UMLS ID:C1970243,,,,,"autism, susceptibility to, 9",MONDO:0012600,,,,,,OMIM ID:611015 +BMGC_DS12686,BMG_DS041806,,UMLS ID:C1970250,,,,,"prostate cancer, hereditary, 9",MONDO:0012597,,,,,,OMIM ID:610997 +BMGC_DS12687,BMG_DS041807,Phosphoserine Aminotransferase Deficiency,UMLS ID:C1970253,,,,,PSAT deficiency,MONDO:0012596,,MeSH ID:C567032,,,,OMIM ID:610992 +BMGC_DS12688,BMG_DS041808,,UMLS ID:C1970254,,,,,"leprosy, susceptibility to, 4",MONDO:0012595,,,,,,OMIM ID:610988 +BMGC_DS12689,BMG_DS041809,"Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",UMLS ID:C1970269,,,,,brain-lung-thyroid syndrome,MONDO:0012593,,MeSH ID:C567034,,,,OMIM ID:610978 +BMGC_DS12690,BMG_DS041810,Choreoathetosis And Congenital Hypothyroidism,UMLS ID:C1970270,,,,,,,,MeSH ID:C567034,,,, +BMGC_DS12691,BMG_DS041811,"Tooth Agenesis, Selective, 3",UMLS ID:C1970291,,,,,"tooth agenesis, selective, 3",MONDO:0011477,,MeSH ID:C567036,,,,OMIM ID:604625 +BMGC_DS12692,BMG_DS041812,"Progressive Familial Heart Block, Type Ib",UMLS ID:C1970298,,,,,progressive familial heart block type IB,MONDO:0011474,,MeSH ID:C567037,progressive familial heart block type IB,DOID:0111076,,OMIM ID:604559 +BMGC_DS12693,BMG_DS041813,"Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",UMLS ID:C1970309,,,,,autosomal recessive proximal renal tubular acidosis,MONDO:0011422,,MeSH ID:C567038,,,,OMIM ID:604278 +BMGC_DS12694,BMG_DS041815,"Congenital Disorder Of Glycosylation, Type IIF",UMLS ID:C1970344,,,,,SLC35A1-congenital disorder of glycosylation,MONDO:0011342,,MeSH ID:C567040,congenital disorder of glycosylation type IIf,DOID:0070258,,OMIM ID:603585 +BMGC_DS12695,BMG_DS041816,"Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities",UMLS ID:C1970386,,,,,,,,MeSH ID:C535344,,,, +BMGC_DS12696,BMG_DS041817,XFE Progeroid Syndrome,UMLS ID:C1970416,,,,,XFE progeroid syndrome,MONDO:0012590,,MeSH ID:C567043,XFE progeroid syndrome,DOID:0060590,,OMIM ID:610965 +BMGC_DS12697,BMG_DS041818,PITT-HOPKINS SYNDROME,UMLS ID:C1970431,,,,,Pitt-Hopkins syndrome,MONDO:0012589,,,Pitt-Hopkins syndrome,DOID:0060488,,OMIM ID:610954 | OMIM ID:602272 +BMGC_DS12698,BMG_DS041820,"Coronary Artery Disease, Autosomal Dominant 2",UMLS ID:C1970440,,,,,"coronary artery disease, autosomal dominant 2",MONDO:0012586,,MeSH ID:C567045,,,,OMIM ID:610947 +BMGC_DS12699,BMG_DS041821,,UMLS ID:C1970441,,,,,"coronary heart disease, susceptibility to, 7",MONDO:0012585,,,,,,OMIM ID:610938 +BMGC_DS12700,BMG_DS041822,,UMLS ID:C1970455,,,,,"systemic lupus erythematosus, susceptibility to, 9",MONDO:0012584,,,,,,OMIM ID:610927 +BMGC_DS12701,BMG_DS041823,"Surfactant Metabolism Dysfunction, Pulmonary, 3",UMLS ID:C1970456,,,,,interstitial lung disease due to ABCA3 deficiency,MONDO:0012582,,MeSH ID:C567046,,,,OMIM ID:610921 +BMGC_DS12702,BMG_DS041824,"Osteogenesis imperfecta, type VIII",UMLS ID:C1970458,,,,,osteogenesis imperfecta type 8,MONDO:0012581,,MeSH ID:C536049,,,,OMIM ID:610915 +BMGC_DS12703,BMG_DS041826,"Surfactant Metabolism Dysfunction, Pulmonary, 2",UMLS ID:C1970470,,,,,"surfactant metabolism dysfunction, pulmonary, 2",MONDO:0024465,,MeSH ID:C567048,,,,OMIM ID:610913 +BMGC_DS12704,BMG_DS041827,"PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED",UMLS ID:C1970472,,,,,autoimmune pulmonary alveolar proteinosis,MONDO:0012579,,,,,,OMIM ID:610910 +BMGC_DS12705,BMG_DS041831,Branchiootorenal Syndrome 2,UMLS ID:C1970479,,,,,branchiootorenal syndrome 2,MONDO:0012575,Branchio-Oto-Renal Syndrome,MeSH ID:D019280,,,,OMIM ID:610896 +BMGC_DS12706,BMG_DS041832,Vesicoureteral Reflux 2,UMLS ID:C1970483,,,,,vesicoureteral reflux 2,MONDO:0012573,,MeSH ID:C567053,,,,OMIM ID:610878 +BMGC_DS12707,BMG_DS041834,"CILIARY DYSKINESIA, PRIMARY, 6",UMLS ID:C1970506,,,,,primary ciliary dyskinesia 6,MONDO:0012571,,,,,,OMIM ID:607421 | OMIM ID:610852 +BMGC_DS12708,BMG_DS041837,,UMLS ID:C1970712,,,,,multiple endocrine neoplasia type 4,MONDO:0012552,,,,,,OMIM ID:610755 +BMGC_DS12709,BMG_DS041838,,UMLS ID:C1970723,,,,,"Hirschsprung disease, susceptibility to, 5",MONDO:0010834,,,,,,OMIM ID:600156 +BMGC_DS12710,BMG_DS041839,"Tooth Agenesis, Selective, X-Linked, 1",UMLS ID:C1970757,,,,,"tooth agenesis, selective, X-linked, 1",MONDO:0010741,,MeSH ID:C567060,,,,OMIM ID:313500 +BMGC_DS12711,BMG_DS041842,"Fabry Disease, Cardiac Variant",UMLS ID:C1970820,,,,,,,,MeSH ID:C567062,,,, +BMGC_DS12712,BMG_DS041843,"Mental Retardation, X-Linked, Syndromic 14",UMLS ID:C1970822,,,,,syndromic X-linked intellectual disability 14,MONDO:0010398,,MeSH ID:C567063,,,,OMIM ID:300676 +BMGC_DS12713,BMG_DS041844,Phosphoribosylpyrophosphate Synthetase Superactivity,UMLS ID:C1970827,,,,,phosphoribosylpyrophosphate synthetase superactivity,MONDO:0010395,,MeSH ID:C567064,phosphoribosylpyrophosphate synthetase superactivity,DOID:0111260,,OMIM ID:300661 +BMGC_DS12714,BMG_DS041845,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93",UMLS ID:C1970841,,,,,"intellectual disability, X-linked 93",MONDO:0010393,,,non-syndromic X-linked intellectual disability 93,DOID:0112045,,OMIM ID:300553 | OMIM ID:300659 +BMGC_DS12715,BMG_DS041846,Phosphoglycerate Kinase 1 Deficiency,UMLS ID:C1970848,,,,,glycogen storage disease due to phosphoglycerate kinase 1 deficiency,MONDO:0010392,,MeSH ID:C567067,phosphoglycerate kinase 1 deficiency,DOID:0111933,,OMIM ID:300653 +BMGC_DS12716,BMG_DS041847,"Atypical Mycobacteriosis, Familial, X-Linked 2",UMLS ID:C1970859,,,,,X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,MONDO:0010389,,MeSH ID:C567068,immunodeficiency 34,DOID:0112000,,OMIM ID:300645 +BMGC_DS12717,BMG_DS041848,IMMUNODEFICIENCY 33,UMLS ID:C1970879,,,,,immunodeficiency 33,MONDO:0010386,,,immunodeficiency 33,DOID:0112003,,OMIM ID:300248 | OMIM ID:300584 | OMIM ID:300636 | OMIM ID:300636 +BMGC_DS12718,BMG_DS041859,Potassium depletion,UMLS ID:C1971021,Hypokalemia | Potassium depletion | K deficiency | Hypopotassemia syndrome | Hypokalemic syndrome | Hypokalaemic syndrome | Potassium deficiency | Hypokalaemia | Hypopotassaemia | Hypopotassemia | Hypopotassaemia syndrome | Hypokalemia (disorder),SNOMEDCT ID:43339004,,,,,,,,,, +BMGC_DS12719,BMG_DS041954,Chlamydia trachomatis infection of genital structure,UMLS ID:C1997322,Chlamydia trachomatis infection of genital structure (disorder) | Chlamydia trachomatis genital infection | Chlamydia trachomatis infection of genital structure,SNOMEDCT ID:428015005,,,,,,,,,, +BMGC_DS12720,BMG_DS041958,Left ventricular cardiac dysfunction,UMLS ID:C1997351,Left ventricular cardiac dysfunction (disorder) | Left ventricular cardiac dysfunction,SNOMEDCT ID:429589006,,,,,,,,,, +BMGC_DS12721,BMG_DS041996,Osteomyelitis caused by Staphylococcus aureus,UMLS ID:C1997728,Osteomyelitis caused by Staphylococcus aureus (disorder) | Osteomyelitis caused by Staphylococcus aureus,SNOMEDCT ID:428783003,,,,,,,,,, +BMGC_DS12722,BMG_DS042014,Citrin deficiency,UMLS ID:C1997910,Citrin deficiency (disorder) | Citrin deficiency | SLC25A13 related citrin deficiency | Solute carrier family 25 member 13 related citrin deficiency,SNOMEDCT ID:429735007,,,citrin deficiency,MONDO:0016602,,,,,, +BMGC_DS12723,BMG_DS042157,Oesophageal reflux (& [without mention of oesophagitis]),UMLS ID:C2004423,Esophageal reflux (& [without mention of esophagitis]) | Acid reflux | Oesophageal reflux (& [without mention of oesophagitis]) | Gastro-oesophageal reflux | Oesophageal reflux | Oesopheal reflux without mention of oesophagitis | Gastro-oesophageal reflux disease without oesophagitis | Gastro-esophageal reflux | Esopheal reflux without mention of esophagitis | Esophageal reflux | Gastro-esophageal reflux disease without esophagitis | Oesophageal reflux (& [without mention of oesophagitis]) (disorder),SNOMEDCT ID:196624002,,,,,,,,,, +BMGC_DS12724,BMG_DS042159,Vascular insufficiency of intestine,UMLS ID:C2004435,Vascular insufficiency of intestine | Ischemic bowel disease | Vascular insufficiency of the intestine | Intestinal ischemia | Ischemic disease of gut | Intestinal ischaemia | Ischaemic bowel disease | Ischaemic disease of gut | Vascular insufficiency of intestine (disorder),SNOMEDCT ID:82196007,,,ischemic bowel disorder,MONDO:0020675,,,,,, +BMGC_DS12725,BMG_DS042256,,UMLS ID:C2012261,,,,,glycogen-rich clear cell breast carcinoma,MONDO:0003390,,,glycogen-rich clear cell breast carcinoma,DOID:5310,, +BMGC_DS12726,BMG_DS042282,,UMLS ID:C2019443,,,,,ovarian squamous cell carcinoma,MONDO:0003494,,,ovarian squamous cell carcinoma,DOID:5531,, +BMGC_DS12727,BMG_DS042286,"Stickler syndrome, type 1",UMLS ID:C2020284,,,,,Stickler syndrome type 1,MONDO:0007160,,MeSH ID:C537492,,,,OMIM ID:108300 +BMGC_DS12728,BMG_DS042308,Group B Streptococcal Infection,UMLS ID:C2020625,,,,,group B streptococcal infection,MONDO:0700218,Streptococcal Infections,MeSH ID:D013290,,,, +BMGC_DS12729,BMG_DS042349,,UMLS ID:C2026186,,,,,diffuse large B-cell lymphoma of the central nervous system,MONDO:0017596,,,primary diffuse large B-cell lymphoma of the central nervous system,DOID:0081313,, +BMGC_DS12730,BMG_DS042351,,UMLS ID:C2026514,,,,,X-linked cerebral adrenoleukodystrophy,MONDO:0010247,,,,,, +BMGC_DS12731,BMG_DS042352,Haemophilus influenzae Type b Infection,UMLS ID:C2028293,,,,,haemophilus infectious disease,MONDO:0006926,Haemophilus Infections,MeSH ID:D006192,,,, +BMGC_DS12732,BMG_DS042357,,UMLS ID:C2033037,,,,,pancreatic vasoactive intestinal peptide producing tumor,MONDO:0003622,,,pancreatic vasoactive intestinal peptide producing tumor,DOID:5741,, +BMGC_DS12733,BMG_DS042390,Mixed hyperlipidemia (disorder),UMLS ID:C2047520,Mixed hyperlipidaemia | Multiple-type hyperlipidaemia | Multiple-type hyperlipidemia | Mixed hyperlipidemia | Mixed hyperlipidemia (disorder),SNOMEDCT ID:267434003,,,,,,,,,, +BMGC_DS12734,BMG_DS042400,,UMLS ID:C2049069,,,,,,,,,indolent plasma cell myeloma,DOID:9550,, +BMGC_DS12735,BMG_DS042403,,UMLS ID:C2051831,,,,,pectus excavatum,MONDO:0008213,,,,,,OMIM ID:169300 +BMGC_DS12736,BMG_DS042428,,UMLS ID:C2057625,,,,,testicular non-seminomatous germ cell tumor,MONDO:0006447,,,testicular germ cell tumor non-seminomatous,DOID:4086,, +BMGC_DS12737,BMG_DS042432,,UMLS ID:C2062367,,,,,congenital fibrinogen deficiency,MONDO:0018060,,,,,, +BMGC_DS12738,BMG_DS042433,Hypercortisolism due to macronodular adrenal hyperplasia,UMLS ID:C2062388,Hypercortisolism due to macronodular adrenal hyperplasia (disorder) | Hypercortisolism due to macronodular adrenal hyperplasia | Cushing syndrome due to macronodular adrenal hyperplasia,SNOMEDCT ID:720459002,,,Cushing syndrome due to macronodular adrenal hyperplasia,MONDO:0009049,,,ACTH-independent macronodular adrenal hyperplasia,DOID:0111622,, +BMGC_DS12739,BMG_DS042442,Acute pyelonephritis caused by bacterium,UMLS ID:C2062473,Acute pyelonephritis caused by bacterium | Acute pyelonephritis caused by bacterium (disorder) | Acute bacterial pyelonephritis,SNOMEDCT ID:838353009,,,,,,,,,, +BMGC_DS12740,BMG_DS042454,Pneumonia caused by Acinetobacter,UMLS ID:C2063075,Pneumonia caused by Acinetobacter (disorder) | Acinetobacter pneumonia | Pneumonia caused by Acinetobacter,SNOMEDCT ID:1010634002,,,,,,,,,, +BMGC_DS12741,BMG_DS042466,,UMLS ID:C2063873,,,,,pancreatic mucinous cystadenocarcinoma,MONDO:0004156,,,mucinous cystadenocarcinoma of pancreas,DOID:7234,, +BMGC_DS12742,BMG_DS042469,,UMLS ID:C2064434,,,,,extrahepatic bile duct rhabdomyosarcoma,MONDO:0002577,,,bile duct rhabdomyosarcoma,DOID:3254,, +BMGC_DS12743,BMG_DS042584,"Postoperative Pain, Chronic",UMLS ID:C2074900,,,,,,,"Pain, Postoperative",MeSH ID:D010149,,,, +BMGC_DS12744,BMG_DS042590,Influenza due to Influenza A virus subtype H1N1,UMLS ID:C2076600,Influenza A (H1N1) | Influenza caused by Influenza A virus subtype H1N1 | Influenza caused by Influenza A virus subtype H1N1 (disorder),SNOMEDCT ID:442696006,,,,,,,,,, +BMGC_DS12745,BMG_DS042724,,UMLS ID:C2169806,,,,,tic disorder,MONDO:0002420,,,,,, +BMGC_DS12746,BMG_DS042802,,UMLS ID:C2205442,,,,,extrahepatic bile duct sarcoma,MONDO:0024658,,,bile duct sarcoma,DOID:4064,, +BMGC_DS12747,BMG_DS042808,,UMLS ID:C2212006,,,,,ovarian small cell carcinoma,MONDO:0003795,,,,,, +BMGC_DS12748,BMG_DS042926,"Brucellosis, Pulmonary",UMLS ID:C2231324,,,,,,,Brucellosis,MeSH ID:D002006,,,, +BMGC_DS12749,BMG_DS042978,,UMLS ID:C2239176,,,,,hepatocellular carcinoma,MONDO:0007256,,,hepatocellular carcinoma,DOID:684,,OMIM ID:114550 +BMGC_DS12750,BMG_DS042988,"DEAFNESS, AUTOSOMAL RECESSIVE 74",UMLS ID:C2239351,,,,,autosomal recessive nonsyndromic hearing loss 74,MONDO:0013386,,,,,,OMIM ID:613718 | OMIM ID:613719 +BMGC_DS12751,BMG_DS042994,Infection of bone,UMLS ID:C2242472,Infection of bone | Bone infection | Infection of bone (disorder),SNOMEDCT ID:111253001,,,,,,,,,, +BMGC_DS12752,BMG_DS043002,Phantosmia,UMLS ID:C2242552,,,,,,,Olfaction Disorders,MeSH ID:D000857,,,, +BMGC_DS12753,BMG_DS043004,,UMLS ID:C2242577,,,,,oromandibular dystonia,MONDO:0019771,,,,,, +BMGC_DS12754,BMG_DS043005,Cardio-Renal Syndrome,UMLS ID:C2242703,,,,,cardio-renal syndrome,MONDO:0044079,Cardio-Renal Syndrome,MeSH ID:D059347,,,, +BMGC_DS12755,BMG_DS043008,Besnier's prurigo,UMLS ID:C2242769,Besnier's prurigo | Besnier's prurigo (disorder) | Besnier prurigo | Atopic dermatitis | Atopic eczema | Disseminated neurodermatitis | Atopic dermatitis (disorder) | AD - Atopic dermatitis | Constitutional eczema,SNOMEDCT ID:200773006 | SNOMEDCT ID:24079001,Atopic prurigo,ICD11 ID:EC91.1,,,,,,,ICD10 ID:L20.0, +BMGC_DS12756,BMG_DS043031,Trichilemmal cyst,UMLS ID:C2266788,Trichilemmal cyst | Trichilemmal cyst (disorder) | Sebaceous cyst | Steatocystoma | Wen | Pilar cyst | Trichilemmal cyst | Sebaceous cyst (morphologic abnormality) | Keratinising cyst | Keratinizing cyst | Keratinous cyst | Steatoma | Trichilemmal cyst (morphologic abnormality) | Trichilemmal cyst | Pilar cyst | Trichilemmal cyst | Follicular isthmus cyst | Pilar cyst | Isthmus catagen cyst | Trichilemmal cyst (disorder),SNOMEDCT ID:201232004 | SNOMEDCT ID:201234003 | SNOMEDCT ID:87373006 | SNOMEDCT ID:419093005 | SNOMEDCT ID:254677004,,,trichilemmal cyst,MONDO:0012328,,,,,,OMIM ID:609649 +BMGC_DS12757,BMG_DS043032,,UMLS ID:C2267227,,,,,bulimia nervosa,MONDO:0005452,,,,,, +BMGC_DS12758,BMG_DS043035,Chronic idiopathic neutropenia,UMLS ID:C2267231,Chronic idiopathic neutropenia | Chronic idiopathic neutropenia (disorder) | Chronic idiopathic neutropenia | Chronic idiopathic neutropaenia | Chronic idiopathic neutropenia (disorder) | Chronic familial neutropaenia | Benign familial neutropaenia | Chronic familial neutropenia (disorder) | Benign familial neutropenia | Chronic familial neutropenia | Chronic idiopathic neutropenia | Idiopathic agranulocytosis | Chronic idiopathic neutropenia (disorder),SNOMEDCT ID:53917000 | SNOMEDCT ID:234419009 | SNOMEDCT ID:234576008 | SNOMEDCT ID:248693006,,,,,,,,,, +BMGC_DS12759,BMG_DS043036,Neonatal Hypotonia,UMLS ID:C2267233,,,,,,,Muscle Hypotonia,MeSH ID:D009123,,,, +BMGC_DS12760,BMG_DS043039,,UMLS ID:C2314896,,,,,familial atypical multiple mole melanoma syndrome,MONDO:0018453,,,,,, +BMGC_DS12761,BMG_DS043043,Pediatric failure to thrive,UMLS ID:C2315100,Pediatric failure to thrive (disorder) | Paediatric failure to thrive | Pediatric failure to thrive,SNOMEDCT ID:432788009,,,,,,,,,, +BMGC_DS12762,BMG_DS043094,Cryopyrin-Associated Periodic Syndromes,UMLS ID:C2316212,,,,,cryopyrin-associated periodic syndrome,MONDO:0016168,Cryopyrin-Associated Periodic Syndromes,MeSH ID:D056587,,,, +BMGC_DS12763,BMG_DS043123,Chronic kidney disease stage 5,UMLS ID:C2316810,Chronic kidney disease stage 5 (disorder) | Chronic kidney disease stage 5 | CKD stage 5,SNOMEDCT ID:433146000,,,end stage renal failure,MONDO:0004375,,,,,, +BMGC_DS12764,BMG_DS043131,Fetal Pyelectasis,UMLS ID:C2317073,,,,,,,Pyelectasis,MeSH ID:D058536,,,, +BMGC_DS12765,BMG_DS043157,,UMLS ID:C2347126,,,,,microscopic polyangiitis,MONDO:0019124,,,,,, +BMGC_DS12766,BMG_DS043159,Short Qt Syndrome,UMLS ID:C2348199,,,,,short QT syndrome,MONDO:0000453,,MeSH ID:C580439,,,, +BMGC_DS12767,BMG_DS043161,Acute Anterior Wall Myocardial Infarction,UMLS ID:C2349195,,,,,,,Anterior Wall Myocardial Infarction,MeSH ID:D056988,,,, +BMGC_DS12768,BMG_DS043172,Pneumonia caused by Staphylococcus aureus,UMLS ID:C2349530,Pneumonia caused by Staphylococcus aureus (disorder) | Pneumonia caused by Staphylococcus aureus,SNOMEDCT ID:441658007,,,,,,,,,, +BMGC_DS12769,BMG_DS043203,Tinea barbae,UMLS ID:C2349994,"Tinea barbae | Tinea sycosis | Barbers' itch | Folliculitis barbae | Mycotic sycosis | Bacterial folliculitis | Dermatophytosis of beard | Sycosis vulgaris | Deep bacterial folliculitis | Sycosis barbae | Pseudofolliculitis barbae | Sycosis barbae, not parasitic | Barbers' rash | Tinea barbae (disorder) | Tinea barbae (disorder) | Tinea barbae | Tinea sycosis | Barbers' itch | Dermatophytosis of beard | Mycotic sycosis | Barbers' rash",SNOMEDCT ID:55875000 | SNOMEDCT ID:399329002,,,tinea barbae,MONDO:0000242,,,,,, +BMGC_DS12770,BMG_DS043204,Viral Croup,UMLS ID:C2350035,,,,,,,Croup,MeSH ID:D003440,,,, +BMGC_DS12771,BMG_DS043205,Postintubation Croup,UMLS ID:C2350036,,,,,,,Croup,MeSH ID:D003440,,,, +BMGC_DS12772,BMG_DS043206,"Clinically Isolated Syndrome, CNS Demyelinating",UMLS ID:C2350037,,,,,,,Demyelinating Diseases,MeSH ID:D003711,,,, +BMGC_DS12773,BMG_DS043209,Polymorphic Reticulosis,UMLS ID:C2350168,,,,,,,"Granuloma, Lethal Midline",MeSH ID:D006103,,,, +BMGC_DS12774,BMG_DS043210,Unilateral Nasal Obstruction,UMLS ID:C2350170,,,,,,,Nasal Obstruction,MeSH ID:D015508,,,, +BMGC_DS12775,BMG_DS043211,Bilateral Nasal Obstruction,UMLS ID:C2350171,,,,,,,Nasal Obstruction,MeSH ID:D015508,,,, +BMGC_DS12776,BMG_DS043212,Antley-Bixler Syndrome Phenotype,UMLS ID:C2350233,,,,,,,Antley-Bixler Syndrome Phenotype,MeSH ID:D054882,,,, +BMGC_DS12777,BMG_DS043214,Lumbarsacral Spondylosis,UMLS ID:C2350238,,,,,,,Spondylosis,MeSH ID:D055009,,,, +BMGC_DS12778,BMG_DS043215,"Osteoarthritis, Spine",UMLS ID:C2350242,,,,,"osteoarthritis, spine",MONDO:0006630,"Osteoarthritis, Spine",MeSH ID:D055013,,,, +BMGC_DS12779,BMG_DS043218,Chronic Lung Injury,UMLS ID:C2350344,,,,,,,Lung Injury,MeSH ID:D055370,,,, +BMGC_DS12780,BMG_DS043228,Resorption Pulmonary Atelectasis,UMLS ID:C2350822,,,,,,,Pulmonary Atelectasis,MeSH ID:D001261,,,, +BMGC_DS12781,BMG_DS043229,Contraction Pulmonary Atelectasis,UMLS ID:C2350823,,,,,,,Pulmonary Atelectasis,MeSH ID:D001261,,,, +BMGC_DS12782,BMG_DS043230,Postoperative Pulmonary Atelectasis,UMLS ID:C2350824,,,,,,,Pulmonary Atelectasis,MeSH ID:D001261,,,, +BMGC_DS12783,BMG_DS043231,Beryllium Disease,UMLS ID:C2350873,,,,,,,Berylliosis,MeSH ID:D001607,,,, +BMGC_DS12784,BMG_DS043232,Constrictive Bronchiolitis,UMLS ID:C2350875,,,,,,,Bronchiolitis Obliterans,MeSH ID:D001989,,,, +BMGC_DS12785,BMG_DS043233,"Bronchiolitis, Exudative",UMLS ID:C2350876,,,,,,,Bronchiolitis Obliterans,MeSH ID:D001989,,,, +BMGC_DS12786,BMG_DS043234,Focal Emphysema,UMLS ID:C2350878,,,,,,,Pulmonary Emphysema,MeSH ID:D011656,,,, +BMGC_DS12787,BMG_DS043235,Tropical Eosinophilic Pneumonia,UMLS ID:C2350879,,,,,,,Pulmonary Eosinophilia,MeSH ID:D011657,,,, +BMGC_DS12788,BMG_DS043236,"Bronchiolitis, Proliferative",UMLS ID:C2350988,,,,,,,Bronchiolitis Obliterans,MeSH ID:D001989,,,, +BMGC_DS12789,BMG_DS043242,Pediatric Obesity,UMLS ID:C2362324,,,,,,,Pediatric Obesity,MeSH ID:D063766,,,, +BMGC_DS12790,BMG_DS043248,Vitamin D-resistant rickets,UMLS ID:C2363065,Vitamin D-resistant rickets | Vitamin D-resistant rickets (disorder) | Familial x-linked hypophosphatemic vitamin D refractory rickets | Familial hypophosphatemia | Familial hypophosphatemic rickets | Familial hypophosphatemic osteomalacia | Vitamin D-resistant rickets | Vitamin D-resistant osteomalacia | Hereditary hypophosphatemia | X-linked vitamin D-resistant rickets | Familial vitamin D-resistant rickets | Familial hypophosphatemic bone disease | HPDR I - Hypophosphatemic vitamin D-resistant rickets | X-linked hypophosphatemic osteomalacia | X-linked hypophosphatemic rickets | Familial hypophosphataemic osteomalacia | Hereditary hypophosphataemia | X-linked hypophosphataemic osteomalacia | X-linked hypophosphataemic rickets | HPDR I - Hypophosphataemic vitamin D-resistant rickets | Familial hypophosphataemic bone disease | Familial hypophosphataemia | Familial hypophosphataemic rickets | Familial x-linked hypophosphataemic vitamin D refractory rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder),SNOMEDCT ID:254118002 | SNOMEDCT ID:190861001 | SNOMEDCT ID:82236004,,,,,,,,,ICD10 ID:E83.31, +BMGC_DS12791,BMG_DS043249,Vitamin D-resistant osteomalacia,UMLS ID:C2363067,Familial x-linked hypophosphatemic vitamin D refractory rickets | Familial hypophosphatemia | Familial hypophosphatemic rickets | Familial hypophosphatemic osteomalacia | Vitamin D-resistant rickets | Vitamin D-resistant osteomalacia | Hereditary hypophosphatemia | X-linked vitamin D-resistant rickets | Familial vitamin D-resistant rickets | Familial hypophosphatemic bone disease | HPDR I - Hypophosphatemic vitamin D-resistant rickets | X-linked hypophosphatemic osteomalacia | X-linked hypophosphatemic rickets | Familial hypophosphataemic osteomalacia | Hereditary hypophosphataemia | X-linked hypophosphataemic osteomalacia | X-linked hypophosphataemic rickets | HPDR I - Hypophosphataemic vitamin D-resistant rickets | Familial hypophosphataemic bone disease | Familial hypophosphataemia | Familial hypophosphataemic rickets | Familial x-linked hypophosphataemic vitamin D refractory rickets | Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder),SNOMEDCT ID:82236004,,,,,,,,,ICD10 ID:E83.31, +BMGC_DS12792,BMG_DS043251,Benign Rolandic Epilepsy,UMLS ID:C2363129,,,,,,,"Epilepsy, Rolandic",MeSH ID:D019305,,,, +BMGC_DS12793,BMG_DS043252,,UMLS ID:C2363142,,,,,T-cell prolymphocytic leukemia,MONDO:0019468,,,,,, +BMGC_DS12794,BMG_DS043256,Myopic Astigmatism,UMLS ID:C2363771,,,,,,,Astigmatism,MeSH ID:D001251,,,, +BMGC_DS12795,BMG_DS043257,,UMLS ID:C2363903,,,,,angiocentric glioma,MONDO:0016705,,,,,, +BMGC_DS12796,BMG_DS043259,Chronic thromboembolic pulmonary hypertension,UMLS ID:C2363973,Thromboembolic pulmonary hypertension | Thromboembolic pulmonary hypertension (disorder) | Chronic thromboembolic pulmonary hypertension,SNOMEDCT ID:233947005,,,,,,,,,ICD10 ID:I27.24, +BMGC_DS12797,BMG_DS043270,Systemic sclerosis [scleroderma],UMLS ID:C2364016,,,,,,,,,,,ICD10 ID:M34, +BMGC_DS12798,BMG_DS043283,Hereditary protein S deficiency,UMLS ID:C2584611,Hereditary protein S deficiency (disorder) | Hereditary protein S deficiency,SNOMEDCT ID:439702007,,,hereditary thrombophilia due to congenital protein S deficiency,MONDO:0019144,,,,,, +BMGC_DS12799,BMG_DS043284,"Thrombophilia, hereditary",UMLS ID:C2584620,,,,,inherited thrombophilia,MONDO:0100240,,MeSH ID:C540694,,,, +BMGC_DS12800,BMG_DS043296,Congenital hypofibrinogenemia,UMLS ID:C2584774,Congenital hypofibrinogenemia (disorder) | Congenital hypofibrinogenemia | Congenital hypofibrinogenaemia,SNOMEDCT ID:439145006,,,congenital afibrinogenemia,MONDO:0008737,,,,,,OMIM ID:202400 +BMGC_DS12801,BMG_DS043308,Qualitative platelet disorder,UMLS ID:C2585231,Qualitative platelet disorder (disorder) | Qualitative platelet defect | Qualitative platelet disorder | Qualitative platelet disorder | Thromboasthenia | Qualitative platelet disorder (disorder),SNOMEDCT ID:267532001 | SNOMEDCT ID:30577005,,,,,,,,,, +BMGC_DS12802,BMG_DS043340,Hereditary antithrombin III deficiency,UMLS ID:C2586031,Hereditary antithrombin III deficiency (disorder) | Hereditary antithrombin III deficiency,SNOMEDCT ID:439699000,,,,,,,,,, +BMGC_DS12803,BMG_DS043352,Allergic rhinitis (disorder),UMLS ID:C2607914,Allergic rhinitis | Allergic rhinitis due to allergen | Allergic rhinitis (disorder) | AR - Allergic rhinitis | Atopic rhinitis,SNOMEDCT ID:61582004,,,allergic rhinitis,MONDO:0011786,,,,,, +BMGC_DS12804,BMG_DS043353,"Carney Complex, Type 1",UMLS ID:C2607929,,,,,"Carney complex, type 1",MONDO:0008057,Carney Complex,MeSH ID:D056733,Carney complex,DOID:0050471,,OMIM ID:160980 +BMGC_DS12805,BMG_DS043356,Unilateral deafness,UMLS ID:C2607947,Unilateral deafness | Unilateral deafness (situation),SNOMEDCT ID:162342008,,,"deafness, unilateral",MONDO:0007426,,,,,,OMIM ID:125000 +BMGC_DS12806,BMG_DS043358,Folliculitis decalvans,UMLS ID:C2608043,Folliculitis decalvans | Folliculitis decalvans (disorder) | Folliculitis decalvans | Folliculitis decalvans (disorder) | Folliculitis depilans,SNOMEDCT ID:201153004 | SNOMEDCT ID:53593008,Folliculitis decalvans,ICD11 ID:ED70.50,Quinquaud's folliculitis decalvans,MONDO:0018103,,,,,ICD10 ID:L66.2,OMIM ID:MTHU044513 +BMGC_DS12807,BMG_DS043359,,UMLS ID:C2608045,,,,,trilateral retinoblastoma,MONDO:0003073,,,,,, +BMGC_DS12808,BMG_DS043360,,UMLS ID:C2608055,,,,,hereditary renal cell carcinoma,MONDO:0003008,,,,,, +BMGC_DS12809,BMG_DS043361,"Renal Hypoplasia, Isolated",UMLS ID:C2608080,,,,,,,,MeSH ID:C537168,,,, +BMGC_DS12810,BMG_DS043362,"Cholestasis, benign recurrent intrahepatic 2",UMLS ID:C2608083,,,,,benign recurrent intrahepatic cholestasis type 2,MONDO:0011559,,MeSH ID:C535934,benign recurrent intrahepatic cholestasis 2,DOID:0070232,,OMIM ID:605479 +BMGC_DS12811,BMG_DS043363,"Epidermolysis Bullosa, Junctional, Localisata Variant",UMLS ID:C2608084,,,,,"epidermolysis bullosa, junctional 4, intermediate",MONDO:0030750,,MeSH ID:C562639,,,,OMIM ID:619787 +BMGC_DS12812,BMG_DS043364,,UMLS ID:C2608087,,,,,"neuronopathy, distal hereditary motor, type 2B",MONDO:0012080,,,,,,OMIM ID:608634 +BMGC_DS12813,BMG_DS043367,Antisynthetase syndrome,UMLS ID:C2609059,Antisynthetase syndrome (disorder) | Antisynthetase syndrome,SNOMEDCT ID:445187004,,,antisynthetase syndrome,MONDO:0019344,,MeSH ID:C537778,antisynthetase syndrome,DOID:0080744,, +BMGC_DS12814,BMG_DS043369,Autoimmune Pancreatitis,UMLS ID:C2609129,,,,,autoimmune pancreatitis,MONDO:0015175,Autoimmune Pancreatitis,MeSH ID:D000081012,autoimmune pancreatitis,DOID:0040091,, +BMGC_DS12815,BMG_DS043373,,UMLS ID:C2609268,,,,,low phospholipid associated cholelithiasis,MONDO:0010939,,,,,,OMIM ID:600803 +BMGC_DS12816,BMG_DS043377,,UMLS ID:C2609414,,,,,acute kidney failure,MONDO:0002492,,,,,, +BMGC_DS12817,BMG_DS043379,"Aortic Aneurysm, Familial Thoracic 6",UMLS ID:C2673186,,,,,"aortic aneurysm, familial thoracic 6",MONDO:0012730,,MeSH ID:C567085,,,,OMIM ID:611788 +BMGC_DS12818,BMG_DS043380,"Erythrocytosis, Familial, 4",UMLS ID:C2673187,,,,,"erythrocytosis, familial, 4",MONDO:0012729,,MeSH ID:C567086,,,,OMIM ID:611783 +BMGC_DS12819,BMG_DS043381,Brugada Syndrome 2,UMLS ID:C2673193,,,,,Brugada syndrome 2,MONDO:0012728,,MeSH ID:C567087,Brugada syndrome 2,DOID:0110219,,OMIM ID:611777 +BMGC_DS12820,BMG_DS043382,"Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",UMLS ID:C2673195,,,,,autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,MONDO:0012726,,MeSH ID:C567088,,,,OMIM ID:611773 +BMGC_DS12821,BMG_DS043383,LIPOPROTEIN GLOMERULOPATHY,UMLS ID:C2673196,,,,,lipoprotein glomerulopathy,MONDO:0012725,,,,,,OMIM ID:107741 | OMIM ID:611771 +BMGC_DS12822,BMG_DS043384,Familial Cold Autoinflammatory Syndrome 2,UMLS ID:C2673198,,,,,familial cold autoinflammatory syndrome 2,MONDO:0012724,,MeSH ID:C567090,familial cold autoinflammatory syndrome 2,DOID:0090063,,OMIM ID:611762 +BMGC_DS12823,BMG_DS043386,Brain Tumor-Polyposis Syndrome 2,UMLS ID:C2673218,,,,,,,,MeSH ID:C566778,,,, +BMGC_DS12824,BMG_DS043387,,UMLS ID:C2673257,,,,,progressive myoclonic epilepsy type 3,MONDO:0012721,,,progressive myoclonus epilepsy 3,DOID:0111446,,OMIM ID:611726 +BMGC_DS12825,BMG_DS043388,"KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",UMLS ID:C2673266,,,,,Krabbe disease due to saposin A deficiency,MONDO:0012720,,,,,,OMIM ID:176801 | OMIM ID:611722 +BMGC_DS12826,BMG_DS043389,"Mucolipidosis III Alpha Beta, Atypical",UMLS ID:C2673375,,,,,,,,MeSH ID:C567099,,,, +BMGC_DS12827,BMG_DS043390,Mucolipidosis II Alpha Beta,UMLS ID:C2673377,,,,,mucolipidosis type II,MONDO:0009650,,MeSH ID:C567100,,,,OMIM ID:252500 +BMGC_DS12828,BMG_DS043391,"Hypophosphatasia, Perinatal Lethal",UMLS ID:C2673477,,,,,perinatal lethal hypophosphatasia,MONDO:0016605,,MeSH ID:C567107,,,, +BMGC_DS12829,BMG_DS043393,Hypergonadotropic Hypogonadism And Partial Alopecia,UMLS ID:C2673480,,,,,primary hypergonadotropic hypogonadism-partial alopecia syndrome,MONDO:0009420,,MeSH ID:C567109,,,,OMIM ID:241090 +BMGC_DS12830,BMG_DS043394,"Leydig Cell Hypoplasia, Type II",UMLS ID:C2673497,,,,,,,,MeSH ID:C562567,Leydig cell hypoplasia,DOID:0112259,, +BMGC_DS12831,BMG_DS043395,,UMLS ID:C2673520,,,,,"microvascular complications of diabetes, susceptibility to, 7",MONDO:0012971,,,,,,OMIM ID:612635 +BMGC_DS12832,BMG_DS043396,"Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive",UMLS ID:C2673535,,,,,TH-deficient dopa-responsive dystonia,MONDO:0011551,,MeSH ID:C537537,,,,OMIM ID:605407 +BMGC_DS12833,BMG_DS043397,Combined Cellular And Humoral Immune Defects With Granulomas,UMLS ID:C2673536,,,,,combined immunodeficiency with skin granulomas,MONDO:0009306,,MeSH ID:C567115,combined cellular and humoral immune defects with granulomas,DOID:0112253,,OMIM ID:233650 +BMGC_DS12834,BMG_DS043400,"Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",UMLS ID:C2673611,,,,,,,,MeSH ID:C567121,,,, +BMGC_DS12835,BMG_DS043401,"Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",UMLS ID:C2673612,,,,,,,,MeSH ID:C567122,,,, +BMGC_DS12836,BMG_DS043402,"Hypothyroidism, Congenital, Nongoitrous, 5",UMLS ID:C2673630,,,,,"hypothyroidism, congenital, nongoitrous, 5",MONDO:0009154,,MeSH ID:C567123,,,,OMIM ID:225250 +BMGC_DS12837,BMG_DS043404,Combined Saposin Deficiency,UMLS ID:C2673635,,,,,combined PSAP deficiency,MONDO:0012719,,MeSH ID:C567125,combined saposin deficiency,DOID:0111330,,OMIM ID:611721 +BMGC_DS12838,BMG_DS043405,Combined Oxidative Phosphorylation Deficiency 5,UMLS ID:C2673642,,,,,hypotonia with lactic acidemia and hyperammonemia,MONDO:0012718,,MeSH ID:C567126,combined oxidative phosphorylation deficiency 5,DOID:0111473,,OMIM ID:611719 +BMGC_DS12839,BMG_DS043406,"Hypomagnesemia 4, Renal",UMLS ID:C2673648,,,,,renal hypomagnesemia 4,MONDO:0012717,,MeSH ID:C567127,,,,OMIM ID:611718 +BMGC_DS12840,BMG_DS043407,Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech,UMLS ID:C2673649,,,,,"spondyloepiphyseal dysplasia, Cantu type",MONDO:0012716,,MeSH ID:C567128,spondyloepiphyseal dysplasia-brachydactyly and distinctive speech,DOID:0112287,,OMIM ID:611717 +BMGC_DS12841,BMG_DS043408,,UMLS ID:C2673676,,,,,"migraine with or without aura, susceptibility to, 12",MONDO:0012715,,,,,,OMIM ID:611706 +BMGC_DS12842,BMG_DS043409,"Myopathy, Early-Onset, with Fatal Cardiomyopathy",UMLS ID:C2673677,,,,,early-onset myopathy with fatal cardiomyopathy,MONDO:0012714,,MeSH ID:C567129,,,,OMIM ID:611705 +BMGC_DS12843,BMG_DS043411,Dystonia with Cerebellar Atrophy,UMLS ID:C2673697,,,,,dystonia with cerebellar atrophy,MONDO:0012712,,MeSH ID:C567131,,,,OMIM ID:611694 +BMGC_DS12844,BMG_DS043412,Dibasic Amino Aciduria I,UMLS ID:C2673736,,,,,hyperdibasic aminoaciduria type 1,MONDO:0009108,,MeSH ID:C567132,,,,OMIM ID:222690 +BMGC_DS12845,BMG_DS043413,"Deafness, Autosomal Recessive 1A",UMLS ID:C2673759,,,,,autosomal recessive nonsyndromic hearing loss 1A,MONDO:0009076,,MeSH ID:C567134,,,,OMIM ID:220290 +BMGC_DS12846,BMG_DS043414,"Deafness, Digenic, Gjb2-Gjb6",UMLS ID:C2673760,,,,,,,,MeSH ID:C567134,,,, +BMGC_DS12847,BMG_DS043415,"Deafness, Digenic, Gjb2-Gjb3",UMLS ID:C2673761,,,,,,,,MeSH ID:C567134,,,, +BMGC_DS12848,BMG_DS043417,Ciliary Dyskinesia With Transposition Of Ciliary Microtubules,UMLS ID:C2673817,,,,,ciliary dyskinesia with transposition of ciliary microtubules,MONDO:0008985,,MeSH ID:C567137,,,,OMIM ID:215520 +BMGC_DS12849,BMG_DS043418,BARDET-BIEDL SYNDROME 13,UMLS ID:C2673873,,,,,Bardet-Biedl syndrome 13,MONDO:0014441,,,,,,OMIM ID:609883 | OMIM ID:615990 +BMGC_DS12850,BMG_DS043419,Bardet-Biedl Syndrome 14,UMLS ID:C2673874,,,,,Bardet-Biedl syndrome 14,MONDO:0014442,,MeSH ID:C567141,Bardet-Biedl syndrome 14,DOID:0110136,,OMIM ID:615991 +BMGC_DS12851,BMG_DS043420,,UMLS ID:C2673883,,,,,renal-hepatic-pancreatic dysplasia,MONDO:0017417,,,,,, +BMGC_DS12852,BMG_DS043421,Renal hepatic pancreatic dysplasia Dandy Walker cyst,UMLS ID:C2673885,,,,,NPHP3-related Meckel-like syndrome,MONDO:0009966,,MeSH ID:C537756,Meckel syndrome 7,DOID:0070121,,OMIM ID:267010 +BMGC_DS12853,BMG_DS043422,"Anemia, Hypochromic Microcytic, With Iron Overload",UMLS ID:C2673913,,,,,"anemia, hypochromic microcytic with iron overload",MONDO:0000104,,MeSH ID:C567144,,,, +BMGC_DS12854,BMG_DS043423,"Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",UMLS ID:C2673914,,,,,,,,MeSH ID:C567145,,,, +BMGC_DS12855,BMG_DS043424,"Amelogenesis Imperfecta, Hypomaturation Type, Iia1",UMLS ID:C2673922,,,,,amelogenesis imperfecta type 2A1,MONDO:0008772,,MeSH ID:C567146,,,,OMIM ID:204700 +BMGC_DS12856,BMG_DS043425,"Amelogenesis Imperfecta, Type Ic",UMLS ID:C2673923,,,,,amelogenesis imperfecta type 1C,MONDO:0008770,,MeSH ID:C567147,,,,OMIM ID:204650 +BMGC_DS12857,BMG_DS043426,,UMLS ID:C2673946,,,,,foveal hypoplasia,MONDO:0044203,,,,,, +BMGC_DS12858,BMG_DS043427,"Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",UMLS ID:C2674009,,,,,,,,MeSH ID:C536352,,,, +BMGC_DS12859,BMG_DS043428,R BINDER DEFICIENCY WITH LACTOFERRIN DEFICIENCY,UMLS ID:C2674026,,,,,,,,,,,,OMIM ID:193090 +BMGC_DS12860,BMG_DS043432,Inflammatory Bowel Disease 11,UMLS ID:C2674051,,,,,inflammatory bowel disease 11,MONDO:0008617,,MeSH ID:C567154,inflammatory bowel disease 11,DOID:0110894,,OMIM ID:191390 +BMGC_DS12861,BMG_DS043435,,UMLS ID:C2674173,,,,,severe achondroplasia-developmental delay-acanthosis nigricans syndrome,MONDO:0014658,,,SADDAN,DOID:0111158,,OMIM ID:616482 +BMGC_DS12862,BMG_DS043436,"Spherocytosis, Type 1",UMLS ID:C2674218,,,,,hereditary spherocytosis type 1,MONDO:0008447,,MeSH ID:C567159,,,,OMIM ID:182900 +BMGC_DS12863,BMG_DS043437,"SPHEROCYTOSIS, HEREDITARY, 2",UMLS ID:C2674219,,,,,hereditary spherocytosis type 2,MONDO:0000913,,,hereditary spherocytosis type 2,DOID:0110917,,OMIM ID:616649 +BMGC_DS12864,BMG_DS043439,"Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber",UMLS ID:C2674259,,,,,,,,MeSH ID:C567162,,,, +BMGC_DS12865,BMG_DS043440,"Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",UMLS ID:C2674321,,,,,"thrombophilia due to protein C deficiency, autosomal dominant",MONDO:0008316,,MeSH ID:C567163,autosomal dominant thrombophilia due to protein C deficiency,DOID:0111909,,OMIM ID:176860 +BMGC_DS12866,BMG_DS043444,"Seizures, intractable",UMLS ID:C2674422,,,,,,,,,,,,OMIM ID:MTHU021792 +BMGC_DS12867,BMG_DS043447,Palmoplantar Hyperkeratosis And True Hermaphroditism,UMLS ID:C2674504,,,,,,,,MeSH ID:C567165,,,, +BMGC_DS12868,BMG_DS043448,"Aortic aneurysm, familial thoracic 3",UMLS ID:C2674574,,,,,Loeys-Dietz syndrome 2,MONDO:0012427,,MeSH ID:C537783,,,,OMIM ID:610168 +BMGC_DS12869,BMG_DS043451,,UMLS ID:C2674665,,,,,"microvascular complications of diabetes, susceptibility to, 5",MONDO:0012969,,,,,,OMIM ID:612633 +BMGC_DS12870,BMG_DS043453,"Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",UMLS ID:C2674695,,,,,"hypertrophic osteoarthropathy, primary, autosomal dominant",MONDO:0008172,"Osteoarthropathy, Primary Hypertrophic",MeSH ID:D010004,,,,OMIM ID:167100 +BMGC_DS12871,BMG_DS043454,"Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",UMLS ID:C2674705,,,,,multicentric carpo-tarsal osteolysis with or without nephropathy,MONDO:0008152,,MeSH ID:C567171,multicentric carpotarsal osteolysis syndrome,DOID:0111534,,OMIM ID:166300 +BMGC_DS12872,BMG_DS043456,RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER,UMLS ID:C2674723,,,,,autoimmune lymphoproliferative syndrome type 4,MONDO:0013767,,,,,,OMIM ID:614470 +BMGC_DS12873,BMG_DS043457,Myokymia 1,UMLS ID:C2674766,,,,,,,,MeSH ID:C567174,,,, +BMGC_DS12874,BMG_DS043458,Faciocardiomelic Syndrome,UMLS ID:C2674798,,,,,faciocardiomelic syndrome,MONDO:0012998,,MeSH ID:C567176,,,,OMIM ID:612731 +BMGC_DS12875,BMG_DS043459,,UMLS ID:C2674838,,,,,"alcohol sensitivity, acute",MONDO:0012454,,,,,,OMIM ID:610251 +BMGC_DS12876,BMG_DS043460,Chromosome 10q26 Deletion Syndrome,UMLS ID:C2674937,,,,,distal 10q deletion syndrome,MONDO:0012315,,MeSH ID:C567182,distal 10q deletion syndrome,DOID:0060390,,OMIM ID:609625 +BMGC_DS12877,BMG_DS043461,Chromosome 3q29 Deletion Syndrome,UMLS ID:C2674949,,,,,chromosome 3q29 microdeletion syndrome,MONDO:0012269,,MeSH ID:C567184,chromosome 3q29 microdeletion syndrome,DOID:0060419,,OMIM ID:609425 +BMGC_DS12878,BMG_DS043462,"Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant",UMLS ID:C2674987,,,,,"dandy-walker malformation with occipital cephalocele, autosomal dominant",MONDO:0012218,,MeSH ID:C567185,,,,OMIM ID:609222 +BMGC_DS12879,BMG_DS043463,Mullerian Aplasia and Hyperandrogenism,UMLS ID:C2675014,,,,,mullerian aplasia and hyperandrogenism,MONDO:0008019,,MeSH ID:C567186,Mullerian aplasia and hyperandrogenism,DOID:0111526,,OMIM ID:158330 +BMGC_DS12880,BMG_DS043465,Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus,UMLS ID:C2675066,,,,,,,,MeSH ID:C567188,,,, +BMGC_DS12881,BMG_DS043468,,UMLS ID:C2675112,,,,,"microvascular complications of diabetes, susceptibility to, 4",MONDO:0012966,,,,,,OMIM ID:612628 +BMGC_DS12882,BMG_DS043469,,UMLS ID:C2675128,,,,,"microvascular complications of diabetes, susceptibility to, 6",MONDO:0012970,,,,,,OMIM ID:612634 +BMGC_DS12883,BMG_DS043470,"Hypospadias 3, Autosomal",UMLS ID:C2675154,,,,,"hypospadias 3, autosomal",MONDO:0007802,,MeSH ID:C567191,,,,OMIM ID:146450 +BMGC_DS12884,BMG_DS043471,Arginine:Glycine Amidinotransferase Deficiency,UMLS ID:C2675179,,,,,AGAT deficiency,MONDO:0012996,,MeSH ID:C567192,,,,OMIM ID:612718 +BMGC_DS12885,BMG_DS043472,Myopia 15,UMLS ID:C2675180,,,,,"myopia 15, autosomal dominant",MONDO:0012995,,MeSH ID:C567193,,,,OMIM ID:612717 +BMGC_DS12886,BMG_DS043474,"Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis",UMLS ID:C2675184,,,,,pancreatic insufficiency-anemia-hyperostosis syndrome,MONDO:0012992,,MeSH ID:C567195,,,,OMIM ID:612714 +BMGC_DS12887,BMG_DS043475,Kahrizi Syndrome,UMLS ID:C2675185,,,,,Kahrizi syndrome,MONDO:0012991,,MeSH ID:C567196,Kahrizi syndrome,DOID:0050807,,OMIM ID:612713 +BMGC_DS12888,BMG_DS043476,LEBER CONGENITAL AMAUROSIS 13,UMLS ID:C2675186,,,,,Leber congenital amaurosis 13,MONDO:0012990,,,,,,OMIM ID:608830 | OMIM ID:612712 +BMGC_DS12889,BMG_DS043477,"Microcephaly, Primary Autosomal Recessive, 7",UMLS ID:C2675187,,,,,"microcephaly 7, primary, autosomal recessive",MONDO:0012989,,MeSH ID:C567198,,,,OMIM ID:612703 +BMGC_DS12890,BMG_DS043479,"Polymicrogyria, Bilateral Occipital",UMLS ID:C2675191,,,,,,,,MeSH ID:C567201,,,, +BMGC_DS12891,BMG_DS043480,"Spherocytosis, Type 5",UMLS ID:C2675192,,,,,hereditary spherocytosis type 5,MONDO:0012985,,MeSH ID:C567202,,,,OMIM ID:612690 +BMGC_DS12892,BMG_DS043481,"Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract",UMLS ID:C2675204,,,,,PHARC syndrome,MONDO:0012984,,MeSH ID:C567203,,,,OMIM ID:612674 +BMGC_DS12893,BMG_DS043482,Cone-Rod Dystrophy 12,UMLS ID:C2675210,,,,,cone-rod dystrophy 12,MONDO:0012983,,MeSH ID:C567206,cone-rod dystrophy 12,DOID:0111019,,OMIM ID:612657 +BMGC_DS12894,BMG_DS043483,"Episodic Ataxia, Type 6",UMLS ID:C2675211,,,,,episodic ataxia type 6,MONDO:0012982,,MeSH ID:C567207,,,,OMIM ID:612656 +BMGC_DS12895,BMG_DS043484,"Spherocytosis, Type 4",UMLS ID:C2675212,,,,,hereditary spherocytosis type 4,MONDO:0012981,,MeSH ID:C567208,,,,OMIM ID:612653 +BMGC_DS12896,BMG_DS043485,Endocrine-Cerebroosteodysplasia,UMLS ID:C2675227,,,,,endocrine-cerebro-osteodysplasia syndrome,MONDO:0012980,,MeSH ID:C567210,,,,OMIM ID:612651 +BMGC_DS12897,BMG_DS043486,"CILIARY DYSKINESIA, PRIMARY, 12",UMLS ID:C2675228,,,,,primary ciliary dyskinesia 12,MONDO:0012979,,,,,,OMIM ID:612650 +BMGC_DS12898,BMG_DS043487,"CILIARY DYSKINESIA, PRIMARY, 11",UMLS ID:C2675229,,,,,primary ciliary dyskinesia 11,MONDO:0012978,,,,,,OMIM ID:612649 +BMGC_DS12899,BMG_DS043488,"Deafness, Autosomal Recessive 1b",UMLS ID:C2675235,,,,,autosomal recessive nonsyndromic hearing loss 1B,MONDO:0012977,,MeSH ID:C567213,,,,OMIM ID:612645 +BMGC_DS12900,BMG_DS043489,"Deafness, Autosomal Dominant 2B",UMLS ID:C2675236,,,,,autosomal dominant nonsyndromic hearing loss 2B,MONDO:0012976,,MeSH ID:C567214,,,,OMIM ID:612644 +BMGC_DS12901,BMG_DS043490,"Deafness, Autosomal Dominant 3B",UMLS ID:C2675237,,,,,autosomal dominant nonsyndromic hearing loss 3B,MONDO:0012975,,MeSH ID:C567215,,,,OMIM ID:612643 +BMGC_DS12902,BMG_DS043491,"Deafness, Autosomal Dominant 59",UMLS ID:C2675238,,,,,autosomal dominant nonsyndromic hearing loss 59,MONDO:0012974,,MeSH ID:C567216,,,,OMIM ID:612642 +BMGC_DS12903,BMG_DS043492,Inflammatory Bowel Disease 26,UMLS ID:C2675249,,,,,inflammatory bowel disease 26,MONDO:0012973,,MeSH ID:C567217,inflammatory bowel disease 26,DOID:0110901,,OMIM ID:612639 +BMGC_DS12904,BMG_DS043496,Duplication 15q11-q13 Syndrome,UMLS ID:C2675336,,,,,15q11q13 microduplication syndrome,MONDO:0012081,,MeSH ID:C557830,,,,OMIM ID:608636 +BMGC_DS12905,BMG_DS043497,Chromosome 22q11.2 Microduplication Syndrome,UMLS ID:C2675369,,,,,chromosome 22q11.2 microduplication syndrome,MONDO:0012020,,MeSH ID:C567224,chromosome 22q11.2 microduplication syndrome,DOID:0060436,,OMIM ID:608363 +BMGC_DS12906,BMG_DS043498,Capillary Malformation Without Arteriovenous Malformation,UMLS ID:C2675370,,,,,,,,MeSH ID:C564254,,,, +BMGC_DS12907,BMG_DS043499,,UMLS ID:C2675436,,,,,plasma fibronectin deficiency,MONDO:0013575,,,,,,OMIM ID:614101 +BMGC_DS12908,BMG_DS043500,Desmoid Tumor Caused By Somatic Mutation,UMLS ID:C2675440,,,,,desmoid tumor caused by somatic mutation,MONDO:0100168,,MeSH ID:C535944,,,, +BMGC_DS12909,BMG_DS043502,"Adenylate Kinase Deficiency, Hemolytic Anemia Due To",UMLS ID:C2675459,,,,,hemolytic anemia due to adenylate kinase deficiency,MONDO:0012967,,MeSH ID:C567228,,,,OMIM ID:612631 +BMGC_DS12910,BMG_DS043504,Chromosome 15q26-Qter Deletion Syndrome,UMLS ID:C2675463,,,,,chromosome 15q26-qter deletion syndrome,MONDO:0012964,,MeSH ID:C567232,chromosome 15q26-qter deletion syndrome,DOID:0060397,,OMIM ID:612626 +BMGC_DS12911,BMG_DS043505,,UMLS ID:C2675470,,,,,"microvascular complications of diabetes, susceptibility to, 3",MONDO:0012963,,,,,,OMIM ID:612624 +BMGC_DS12912,BMG_DS043506,,UMLS ID:C2675471,,,,,"microvascular complications of diabetes, susceptibility to, 2",MONDO:0012962,,,,,,OMIM ID:612623 +BMGC_DS12913,BMG_DS043508,,UMLS ID:C2675473,,,,,"intellectual disability, autosomal dominant 5",MONDO:0012960,,,,,,OMIM ID:612621 +BMGC_DS12914,BMG_DS043511,,UMLS ID:C2675477,,,,,"multiple sclerosis, susceptibility to, 3",MONDO:0012957,,,,,,OMIM ID:612595 +BMGC_DS12915,BMG_DS043515,,UMLS ID:C2675481,,,,,"colorectal cancer, susceptibility to, 10",MONDO:0012953,,,,,,OMIM ID:612591 +BMGC_DS12916,BMG_DS043520,Chromosome 6pter-P24 Deletion Syndrome,UMLS ID:C2675486,,,,,chromosome 6pter-p24 deletion syndrome,MONDO:0012948,,MeSH ID:C567239,chromosome 6pter-p24 deletion syndrome,DOID:0060422,,OMIM ID:612582 +BMGC_DS12917,BMG_DS043521,,UMLS ID:C2675487,,,,,"intellectual disability, autosomal dominant 4",MONDO:0012947,,,,,,OMIM ID:612581 +BMGC_DS12918,BMG_DS043522,,UMLS ID:C2675488,,,,,"intellectual disability, autosomal dominant 3",MONDO:0012946,,,,,,OMIM ID:612580 +BMGC_DS12919,BMG_DS043523,AMYOTROPHIC LATERAL SCLEROSIS 11,UMLS ID:C2675491,,,,,amyotrophic lateral sclerosis type 11,MONDO:0012945,,,amyotrophic lateral sclerosis type 11,DOID:0060202,,OMIM ID:612577 | OMIM ID:609390 +BMGC_DS12920,BMG_DS043524,Split-Hand-Foot Malformation With Long Bone Deficiency 3,UMLS ID:C2675492,,,,,"chromosome 17P13.3, telomeric, duplication syndrome",MONDO:0012944,,MeSH ID:C567245,,,,OMIM ID:612576 +BMGC_DS12921,BMG_DS043525,Retinitis Pigmentosa 46,UMLS ID:C2675496,,,,,retinitis pigmentosa 46,MONDO:0012943,,MeSH ID:C567249,retinitis pigmentosa 46,DOID:0110409,,OMIM ID:612572 +BMGC_DS12922,BMG_DS043527,"INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE",UMLS ID:C2675508,,,,,inflammatory bowel disease 25,MONDO:0012941,,,inflammatory bowel disease 25,DOID:0110909,,OMIM ID:612567 +BMGC_DS12923,BMG_DS043528,Inflammatory Bowel Disease 24,UMLS ID:C2675509,,,,,inflammatory bowel disease 24,MONDO:0012940,,MeSH ID:C567252,inflammatory bowel disease 24,DOID:0110908,,OMIM ID:612566 +BMGC_DS12924,BMG_DS043529,Diamond-Blackfan Anemia 8,UMLS ID:C2675511,,,,,Diamond-Blackfan anemia 8,MONDO:0012939,,MeSH ID:C567253,Diamond-Blackfan anemia 8,DOID:0111881,,OMIM ID:612563 +BMGC_DS12925,BMG_DS043530,Diamond-Blackfan Anemia 7,UMLS ID:C2675512,,,,,Diamond-Blackfan anemia 7,MONDO:0012938,,MeSH ID:C567254,Diamond-Blackfan anemia 7,DOID:0111878,,OMIM ID:612562 +BMGC_DS12926,BMG_DS043534,Adiponectin Deficiency,UMLS ID:C2675518,,,,,,,,MeSH ID:C567258,,,, +BMGC_DS12927,BMG_DS043535,Hypoadiponectinemia,UMLS ID:C2675519,,,,,,,,MeSH ID:C567258,,,, +BMGC_DS12928,BMG_DS043536,,UMLS ID:C2675520,,,,,"breast-ovarian cancer, familial, susceptibility to, 2",MONDO:0012933,,,,,,OMIM ID:612555 +BMGC_DS12929,BMG_DS043539,,UMLS ID:C2675525,,,,,"focal segmental glomerulosclerosis 4, susceptibility to",MONDO:0012931,,,,,,OMIM ID:612551 +BMGC_DS12930,BMG_DS043540,"Myopathy, Congenital, Compton-North",UMLS ID:C2675527,,,,,Compton-North congenital myopathy,MONDO:0012929,,MeSH ID:C567261,,,,OMIM ID:612540 +BMGC_DS12931,BMG_DS043541,"Spastic Paraplegia 42, Autosomal Dominant",UMLS ID:C2675528,,,,,hereditary spastic paraplegia 42,MONDO:0012928,,MeSH ID:C567262,,,,OMIM ID:612539 +BMGC_DS12932,BMG_DS043542,,UMLS ID:C2675551,,,,,"lumbar disk degeneration, susceptibility to",MONDO:0100206,,,,,, +BMGC_DS12933,BMG_DS043543,"Retinitis Pigmentosa 7, Digenic",UMLS ID:C2675552,,,,,,,,MeSH ID:C567263,,,, +BMGC_DS12934,BMG_DS043545,,UMLS ID:C2675556,,,,,familial acute necrotizing encephalopathy,MONDO:0011953,,,,,,OMIM ID:608033 +BMGC_DS12935,BMG_DS043547,,UMLS ID:C2675609,,,,,osteoarthritis susceptibility 3,MONDO:0011923,,,,,,OMIM ID:607850 +BMGC_DS12936,BMG_DS043549,"Niemann-Pick Disease, Intermediate, Protracted Neurovisceral",UMLS ID:C2675646,,,,,,,,MeSH ID:C567268,,,, +BMGC_DS12937,BMG_DS043552,Dyschromatosis Universalis Hereditaria 1,UMLS ID:C2675711,,,,,dyschromatosis universalis hereditaria 1,MONDO:0024524,,MeSH ID:C567273,,,,OMIM ID:127500 +BMGC_DS12938,BMG_DS043553,"Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",UMLS ID:C2675730,,,,,autosomal dominant deafness - onychodystrophy syndrome,MONDO:0007420,,MeSH ID:C567274,,,,OMIM ID:124480 +BMGC_DS12939,BMG_DS043554,"Craniodiaphyseal Dysplasia, Autosomal Dominant",UMLS ID:C2675746,,,,,"craniodiaphyseal dysplasia, autosomal dominant",MONDO:0021021,,MeSH ID:C567275,,,,OMIM ID:122860 +BMGC_DS12940,BMG_DS043555,"Deafness, Autosomal Dominant 3A",UMLS ID:C2675750,,,,,autosomal dominant nonsyndromic hearing loss 3A,MONDO:0011103,,MeSH ID:C567277,,,,OMIM ID:601544 +BMGC_DS12941,BMG_DS043556,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 6",UMLS ID:C2675767,,,,,"epiphyseal dysplasia, multiple, 6",MONDO:0013591,,,multiple epiphyseal dysplasia 6,DOID:0070301,,OMIM ID:120210 | OMIM ID:614135 +BMGC_DS12942,BMG_DS043558,Holoprosencephaly 10,UMLS ID:C2675857,,,,,chromosome 1q41-q42 deletion syndrome,MONDO:0012927,,MeSH ID:C567278,,,,OMIM ID:612530 +BMGC_DS12943,BMG_DS043559,"Amelogenesis Imperfecta, Hypomaturation Type, Iia2",UMLS ID:C2675858,,,,,amelogenesis imperfecta hypomaturation type 2A2,MONDO:0012926,,MeSH ID:C567279,,,,OMIM ID:612529 +BMGC_DS12944,BMG_DS043560,Diamond-Blackfan Anemia 5,UMLS ID:C2675859,,,,,Diamond-Blackfan anemia 5,MONDO:0012925,,MeSH ID:C567280,Diamond-Blackfan anemia 5,DOID:0111883,,OMIM ID:612528 +BMGC_DS12945,BMG_DS043561,Diamond-Blackfan Anemia 4,UMLS ID:C2675860,,,,,Diamond-Blackfan anemia 4,MONDO:0012924,,MeSH ID:C567281,Diamond-Blackfan anemia 4,DOID:0111890,,OMIM ID:612527 +BMGC_DS12946,BMG_DS043562,"Lipodystrophy, Congenital Generalized, Type 3",UMLS ID:C2675861,,,,,congenital generalized lipodystrophy type 3,MONDO:0012923,,MeSH ID:C567282,,,,OMIM ID:612526 +BMGC_DS12947,BMG_DS043563,"Pyloric Stenosis, Infantile Hypertrophic, 5",UMLS ID:C2675862,,,,,"pyloric stenosis, infantile hypertrophic, 5",MONDO:0012922,,MeSH ID:C567283,,,,OMIM ID:612525 +BMGC_DS12948,BMG_DS043564,"Diabetes Mellitus, Insulin-Dependent, 22",UMLS ID:C2675864,,,,,type 1 diabetes mellitus 22,MONDO:0012921,,MeSH ID:C567284,,,,OMIM ID:612522 +BMGC_DS12949,BMG_DS043566,"Diabetes Mellitus, Insulin-Dependent, 20",UMLS ID:C2675866,,,,,type 1 diabetes mellitus 20,MONDO:0012919,,MeSH ID:C567286,,,,OMIM ID:612520 +BMGC_DS12950,BMG_DS043567,"CILIARY DYSKINESIA, PRIMARY, 10",UMLS ID:C2675867,,,,,primary ciliary dyskinesia 10,MONDO:0012918,,,,,,OMIM ID:612518 +BMGC_DS12951,BMG_DS043568,Specific Language Impairment 4,UMLS ID:C2675874,,,,,specific language impairment 4,MONDO:0012917,,MeSH ID:C567288,,,,OMIM ID:612514 +BMGC_DS12952,BMG_DS043569,Chromosome 2p16.1-P15 Deletion Syndrome,UMLS ID:C2675875,,,,,chromosome 2p16.1-p15 deletion syndrome,MONDO:0012916,,MeSH ID:C567289,chromosome 2p16.1-p15 deletion syndrome,DOID:0060415,,OMIM ID:612513 +BMGC_DS12953,BMG_DS043570,Chromosome 1q21.1 Duplication Syndrome,UMLS ID:C2675891,,,,,chromosome 1q21.1 duplication syndrome,MONDO:0012915,,MeSH ID:C567290,chromosome 1q21.1 duplication syndrome,DOID:0060435,,OMIM ID:612475 +BMGC_DS12954,BMG_DS043571,,UMLS ID:C2675897,,,,,chromosome 1q21.1 deletion syndrome,MONDO:0012914,,,,,,OMIM ID:612474 +BMGC_DS12955,BMG_DS043572,"Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome",UMLS ID:C2675904,,,,,"Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome",MONDO:0012913,,MeSH ID:C567292,,,,OMIM ID:612469 +BMGC_DS12956,BMG_DS043573,,UMLS ID:C2675945,,,,,"schizophrenia, susceptibility to",MONDO:0100182,,,,,, +BMGC_DS12957,BMG_DS043576,"Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant",UMLS ID:C2676023,,,,,hereditary hypercarotenemia and vitamin A deficiency,MONDO:0007272,,MeSH ID:C567296,,,,OMIM ID:115300 +BMGC_DS12958,BMG_DS043579,Diamond-Blackfan Anemia 1,UMLS ID:C2676137,,,,,Diamond-Blackfan anemia 1,MONDO:0007110,,MeSH ID:C567302,Diamond-Blackfan anemia 1,DOID:0111895,,OMIM ID:105650 +BMGC_DS12959,BMG_DS043581,,UMLS ID:C2676191,,,,,familial isolated pituitary adenoma,MONDO:0017824,,,,,, +BMGC_DS12960,BMG_DS043584,"Skeletal Defects, Genital Hypoplasia, And Mental Retardation",UMLS ID:C2676231,,,,,"skeletal defects, genital hypoplasia, and intellectual disability",MONDO:0012909,,MeSH ID:C567306,,,,OMIM ID:612447 +BMGC_DS12961,BMG_DS043585,Complement Component 6 Deficiency,UMLS ID:C2676232,,,,,complement component 6 deficiency,MONDO:0012908,,MeSH ID:C567307,complement component 6 deficiency,DOID:0060299,,OMIM ID:612446 +BMGC_DS12962,BMG_DS043588,"CILIARY DYSKINESIA, PRIMARY, 9",UMLS ID:C2676235,,,,,primary ciliary dyskinesia 9,MONDO:0012906,,,,,,OMIM ID:612444 +BMGC_DS12963,BMG_DS043589,"Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",UMLS ID:C2676243,,,,,leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome,MONDO:0011897,,MeSH ID:C567313,,,,OMIM ID:607694 +BMGC_DS12964,BMG_DS043590,"Leukodystrophy, Hypomyelinating, 6",UMLS ID:C2676244,,,,,hypomyelinating leukodystrophy 6,MONDO:0012905,,MeSH ID:C567314,,,,OMIM ID:612438 +BMGC_DS12965,BMG_DS043591,Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia,UMLS ID:C2676254,,,,,"epilepsy, progressive myoclonic, 1B",MONDO:0012904,,MeSH ID:C580388,,,,OMIM ID:612437 +BMGC_DS12966,BMG_DS043592,"Cardiomyopathy, Familial Restrictive, 3",UMLS ID:C2676271,,,,,"cardiomyopathy, familial restrictive, 3",MONDO:0012900,,MeSH ID:C567316,,,,OMIM ID:612422 +BMGC_DS12967,BMG_DS043595,"Dystonia 17, Torsion, Autosomal Recessive",UMLS ID:C2676281,,,,,torsion dystonia 17,MONDO:0012895,,MeSH ID:C567319,,,,OMIM ID:612406 +BMGC_DS12968,BMG_DS043596,"Bone Fragility with Contractures, Arterial Rupture, and Deafness",UMLS ID:C2676285,,,,,"bone fragility with contractures, arterial rupture, and deafness",MONDO:0012892,,MeSH ID:C567320,,,,OMIM ID:612394 +BMGC_DS12969,BMG_DS043597,Pontocerebellar Hypoplasia Type 2C,UMLS ID:C2676465,,,,,pontocerebellar hypoplasia type 2C,MONDO:0012891,,MeSH ID:C567324,pontocerebellar hypoplasia type 2C,DOID:0060269,,OMIM ID:612390 +BMGC_DS12970,BMG_DS043598,Pontocerebellar Hypoplasia Type 2B,UMLS ID:C2676466,,,,,pontocerebellar hypoplasia type 2B,MONDO:0012890,,MeSH ID:C567325,pontocerebellar hypoplasia type 2B,DOID:0060268,,OMIM ID:612389 +BMGC_DS12971,BMG_DS043600,,UMLS ID:C2676468,,,,,"sarcoidosis, susceptibility to, 2",MONDO:0012888,,,,,,OMIM ID:612387 +BMGC_DS12972,BMG_DS043601,Inflammatory Bowel Disease 23,UMLS ID:C2676484,,,,,inflammatory bowel disease 23,MONDO:0012887,,MeSH ID:C567326,inflammatory bowel disease 23,DOID:0110884,,OMIM ID:612381 +BMGC_DS12973,BMG_DS043602,Inflammatory Bowel Disease 22,UMLS ID:C2676485,,,,,inflammatory bowel disease 22,MONDO:0012886,,MeSH ID:C567327,inflammatory bowel disease 22,DOID:0110905,,OMIM ID:612380 +BMGC_DS12974,BMG_DS043604,Cowden-Like Syndrome,UMLS ID:C2676500,,,,,Cowden syndrome 2,MONDO:0012878,,MeSH ID:C567337,,,,OMIM ID:612359 +BMGC_DS12975,BMG_DS043605,Inflammatory Bowel Disease 21,UMLS ID:C2676507,,,,,inflammatory bowel disease 21,MONDO:0012875,,MeSH ID:C567338,inflammatory bowel disease 21,DOID:0110906,,OMIM ID:612354 +BMGC_DS12976,BMG_DS043606,"Porokeratosis, Disseminated Superficial Actinic, 4",UMLS ID:C2676508,,,,,"porokeratosis 6, disseminated superficial actinic type",MONDO:0012874,,MeSH ID:C567339,,,,OMIM ID:612353 +BMGC_DS12977,BMG_DS043607,"Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",UMLS ID:C2676510,,,,,"Ehlers-Danlos syndrome, spondylocheirodysplastic type",MONDO:0012873,,MeSH ID:C567340,,,,OMIM ID:612350 +BMGC_DS12978,BMG_DS043608,,UMLS ID:C2676676,,,,,"breast-ovarian cancer, familial, susceptibility to, 1",MONDO:0011450,,,,,,OMIM ID:604370 +BMGC_DS12979,BMG_DS043610,"Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator",UMLS ID:C2676721,,,,,"thrombophilia, familial, due to decreased release of tissue plasminogen activator",MONDO:0012872,,MeSH ID:C567341,thrombophilia due to decreased release of PLAT,DOID:0111906,,OMIM ID:612348 +BMGC_DS12980,BMG_DS043612,Jervell And Lange-Nielsen Syndrome 2,UMLS ID:C2676723,,,,,Jervell and Lange-Nielsen syndrome 2,MONDO:0012871,,MeSH ID:C567343,,,,OMIM ID:612347 +BMGC_DS12981,BMG_DS043614,Chromosome 1q43-Q44 Deletion Syndrome,UMLS ID:C2676727,,,,,"intellectual disability, autosomal dominant 22",MONDO:0012869,,MeSH ID:C567346,,,,OMIM ID:612337 +BMGC_DS12982,BMG_DS043615,"Spastic Paraplegia 38, Autosomal Dominant",UMLS ID:C2676732,,,,,hereditary spastic paraplegia 38,MONDO:0012867,,MeSH ID:C567349,,,,OMIM ID:612335 +BMGC_DS12983,BMG_DS043616,Chromosome 2q32-Q33 Deletion Syndrome,UMLS ID:C2676739,,,,,chromosome 2q32-q33 deletion syndrome,MONDO:0012864,,MeSH ID:C567350,SATB2-associated syndrome,DOID:0060428,,OMIM ID:612313 +BMGC_DS12984,BMG_DS043619,Premature Ovarian Failure 6,UMLS ID:C2676742,,,,,premature ovarian failure 6,MONDO:0012861,,MeSH ID:C567351,,,,OMIM ID:612310 +BMGC_DS12985,BMG_DS043620,"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",UMLS ID:C2676759,,,,,"thrombophilia due to protein C deficiency, autosomal recessive",MONDO:0012860,,,autosomal recessive thrombophilia due to protein C deficiency,DOID:0111904,,OMIM ID:612283 | OMIM ID:612304 +BMGC_DS12986,BMG_DS043621,"Osteopetrosis, Autosomal Recessive 7",UMLS ID:C2676766,,,,,autosomal recessive osteopetrosis 7,MONDO:0012859,,MeSH ID:C567354,,,,OMIM ID:612301 +BMGC_DS12987,BMG_DS043622,CD59 Deficiency,UMLS ID:C2676767,,,,,primary CD59 deficiency,MONDO:0012858,,MeSH ID:C567355,,,,OMIM ID:612300 +BMGC_DS12988,BMG_DS043624,Birk-Barel Mental Retardation Dysmorphism Syndrome,UMLS ID:C2676770,,,,,Birk-Barel syndrome,MONDO:0012856,,MeSH ID:C567357,Birk-Barel syndrome,DOID:0050675,,OMIM ID:612292 +BMGC_DS12989,BMG_DS043625,Joubert Syndrome 8,UMLS ID:C2676771,,,,,Joubert syndrome 8,MONDO:0012855,,MeSH ID:C567358,Joubert syndrome 8,DOID:0111003,,OMIM ID:612291 +BMGC_DS12990,BMG_DS043626,"Microtia, Hearing Impairment, And Cleft Palate",UMLS ID:C2676772,,,,,bilateral microtia-deafness-cleft palate syndrome,MONDO:0012854,,MeSH ID:C567359,,,,OMIM ID:612290 +BMGC_DS12991,BMG_DS043627,FONTAINE PROGEROID SYNDROME,UMLS ID:C2676780,,,,,Fontaine progeroid syndrome,MONDO:0012853,,,,,,OMIM ID:608744 | OMIM ID:612289 | OMIM ID:233500 | OMIM ID:612289 +BMGC_DS12992,BMG_DS043628,Inflammatory Bowel Disease 20,UMLS ID:C2676781,,,,,inflammatory bowel disease 20,MONDO:0012852,,MeSH ID:C567361,inflammatory bowel disease 20,DOID:0110898,,OMIM ID:612288 +BMGC_DS12993,BMG_DS043629,"Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2",UMLS ID:C2676782,,,,,hypophosphatemic nephrolithiasis/osteoporosis 2,MONDO:0012851,,MeSH ID:C567362,hypophosphatemic nephrolithiasis/osteoporosis 2,DOID:0080078,,OMIM ID:612287 +BMGC_DS12994,BMG_DS043630,"Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",UMLS ID:C2676786,,,,,hypophosphatemic nephrolithiasis/osteoporosis 1,MONDO:0012850,,MeSH ID:C567363,hypophosphatemic nephrolithiasis/osteoporosis 1,DOID:0080077,,OMIM ID:612286 +BMGC_DS12995,BMG_DS043631,Joubert Syndrome 9,UMLS ID:C2676788,,,,,Joubert syndrome 9,MONDO:0012849,,MeSH ID:C567364,Joubert syndrome 9,DOID:0111004,,OMIM ID:612285 +BMGC_DS12996,BMG_DS043632,"Meckel Syndrome, Type 6",UMLS ID:C2676790,,,,,"Meckel syndrome, type 6",MONDO:0012848,,MeSH ID:C567365,,,,OMIM ID:612284 +BMGC_DS12997,BMG_DS043633,,UMLS ID:C2676832,,,,,"microvascular complications of diabetes, susceptibility to, 1",MONDO:0011386,,,,,,OMIM ID:603933 +BMGC_DS12998,BMG_DS043634,,UMLS ID:C2676840,,,,,"lumbar disk herniation, susceptibility to",MONDO:0100202,,,,,, +BMGC_DS12999,BMG_DS043635,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6",UMLS ID:C2677065,,,,,autosomal recessive congenital ichthyosis 6,MONDO:0012847,,,,,,OMIM ID:609383 | OMIM ID:612281 +BMGC_DS13000,BMG_DS043637,Inflammatory Bowel Disease 19,UMLS ID:C2677079,,,,,inflammatory bowel disease 19,MONDO:0012845,,MeSH ID:C567372,inflammatory bowel disease 19,DOID:0110890,,OMIM ID:612278 +BMGC_DS13001,BMG_DS043639,,UMLS ID:C2677087,,,,,"epilepsy, childhood absence, susceptibility to, 5",MONDO:0012843,,,,,,OMIM ID:612269 +BMGC_DS13002,BMG_DS043641,Inflammatory Bowel Disease 18,UMLS ID:C2677090,,,,,inflammatory bowel disease 18,MONDO:0012841,,MeSH ID:C567377,inflammatory bowel disease 18,DOID:0110888,,OMIM ID:612262 +BMGC_DS13003,BMG_DS043642,Inflammatory Bowel Disease 17,UMLS ID:C2677091,,,,,inflammatory bowel disease 17,MONDO:0012840,,MeSH ID:C567378,inflammatory bowel disease 17,DOID:0110883,,OMIM ID:612261 +BMGC_DS13004,BMG_DS043643,MYD88 Deficiency,UMLS ID:C2677092,,,,,pyogenic bacterial infections due to MyD88 deficiency,MONDO:0012839,,MeSH ID:C567379,,,,OMIM ID:612260 +BMGC_DS13005,BMG_DS043644,Inflammatory Bowel Disease 16,UMLS ID:C2677093,,,,,inflammatory bowel disease 16,MONDO:0012838,,MeSH ID:C567380,inflammatory bowel disease 16,DOID:0110896,,OMIM ID:612259 +BMGC_DS13006,BMG_DS043645,Inflammatory Bowel Disease 15,UMLS ID:C2677094,,,,,inflammatory bowel disease 15,MONDO:0012837,,MeSH ID:C567381,inflammatory bowel disease 15,DOID:0110897,,OMIM ID:612255 +BMGC_DS13007,BMG_DS043647,,UMLS ID:C2677096,,,,,"systemic lupus erythematosus, susceptibility to, 11",MONDO:0012835,,,,,,OMIM ID:612253 +BMGC_DS13008,BMG_DS043648,,UMLS ID:C2677097,,,,,"systemic lupus erythematosus, susceptibility to, 10",MONDO:0012834,,,,,,OMIM ID:612251 +BMGC_DS13009,BMG_DS043649,,UMLS ID:C2677099,,,,,Crouzon syndrome-acanthosis nigricans syndrome,MONDO:0012833,,,,,,OMIM ID:612247 +BMGC_DS13010,BMG_DS043650,Inflammatory Bowel Disease 14,UMLS ID:C2677100,,,,,inflammatory bowel disease 14,MONDO:0012832,,MeSH ID:C567383,inflammatory bowel disease 14,DOID:0110895,,OMIM ID:612245 +BMGC_DS13011,BMG_DS043651,Inflammatory Bowel Disease 13,UMLS ID:C2677101,,,,,inflammatory bowel disease 13,MONDO:0012831,,MeSH ID:C567384,inflammatory bowel disease 13,DOID:0110893,,OMIM ID:612244 +BMGC_DS13012,BMG_DS043653,Inflammatory Bowel Disease 12,UMLS ID:C2677105,,,,,inflammatory bowel disease 12,MONDO:0012829,,MeSH ID:C567388,inflammatory bowel disease 12,DOID:0110887,,OMIM ID:612241 +BMGC_DS13013,BMG_DS043654,"Atrial Fibrillation, Familial, 7",UMLS ID:C2677106,,,,,"atrial fibrillation, familial, 7",MONDO:0012828,,MeSH ID:C567389,,,,OMIM ID:612240 +BMGC_DS13014,BMG_DS043657,"Leukodystrophy, Hypomyelinating, 4",UMLS ID:C2677109,,,,,hypomyelinating leukodystrophy 4,MONDO:0012824,,MeSH ID:C567390,,,,OMIM ID:612233 +BMGC_DS13015,BMG_DS043658,"Leukodystrophy, hypomyelinating",UMLS ID:C2677112,,,,,,,,,,,,OMIM ID:MTHU021394 +BMGC_DS13016,BMG_DS043662,,UMLS ID:C2677123,,,,,"colorectal cancer, susceptibility to, 3",MONDO:0012820,,,,,,OMIM ID:612229 +BMGC_DS13017,BMG_DS043664,,UMLS ID:C2677132,,,,,maturity-onset diabetes of the young type 9,MONDO:0012818,,,,,,OMIM ID:612225 +BMGC_DS13018,BMG_DS043665,"Lymphedema, Cardiac Septal Defects, And Characteristic Facies",UMLS ID:C2677167,,,,,lymphedema-atrial septal defects-facial changes syndrome,MONDO:0011166,,MeSH ID:C567398,,,,OMIM ID:601927 +BMGC_DS13019,BMG_DS043668,"Atrial Fibrillation, Familial, 6",UMLS ID:C2677294,,,,,"atrial fibrillation, familial, 6",MONDO:0012816,,MeSH ID:C567400,,,,OMIM ID:612201 +BMGC_DS13020,BMG_DS043669,,UMLS ID:C2677299,,,,,Coats plus syndrome,MONDO:0012815,,,,,, +BMGC_DS13021,BMG_DS043670,Diastasis Recti And Weakness Of The Linea Alba,UMLS ID:C2677303,,,,,diastasis recti and weakness of the linea alba,MONDO:0012814,,MeSH ID:C567402,,,,OMIM ID:612198 +BMGC_DS13022,BMG_DS043671,Retinitis Pigmentosa 29,UMLS ID:C2677325,,,,,retinitis pigmentosa 29,MONDO:0012813,,MeSH ID:C567403,retinitis pigmentosa 29,DOID:0110378,,OMIM ID:612165 +BMGC_DS13023,BMG_DS043672,"Epileptic Encephalopathy, Early Infantile, 4",UMLS ID:C2677326,,,,,"developmental and epileptic encephalopathy, 4",MONDO:0012812,,MeSH ID:C567404,,,,OMIM ID:612164 +BMGC_DS13024,BMG_DS043675,"Cardiomyopathy, Dilated, 1AA",UMLS ID:C2677338,,,,,dilated cardiomyopathy 1AA,MONDO:0012808,,MeSH ID:C567407,,,,OMIM ID:612158 +BMGC_DS13025,BMG_DS043676,Epidermolysis Bullosa Simplex With Pyloric Atresia,UMLS ID:C2677349,,,,,"epidermolysis bullosa simplex 5C, with pyloric atresia",MONDO:0012807,,MeSH ID:C567408,,,,OMIM ID:612138 +BMGC_DS13026,BMG_DS043677,OROFACIAL CLEFT 11,UMLS ID:C2677434,,,,,orofacial cleft 11,MONDO:0010906,,,,,,OMIM ID:112262 | OMIM ID:600625 +BMGC_DS13027,BMG_DS043678,"Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant",UMLS ID:C2677481,,,,,ectodermal dysplasia and immunodeficiency 2,MONDO:0012806,,MeSH ID:C567411,,,,OMIM ID:612132 +BMGC_DS13028,BMG_DS043679,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12",UMLS ID:C2677491,,,,,hypertrophic cardiomyopathy 12,MONDO:0012804,,,hypertrophic cardiomyopathy 12,DOID:0110318,,OMIM ID:600824 | OMIM ID:612124 +BMGC_DS13029,BMG_DS043680,Oculoauricular Syndrome,UMLS ID:C2677500,,,,,oculoauricular syndrome,MONDO:0012802,,MeSH ID:C567416,oculoauricular syndrome,DOID:0060482,,OMIM ID:612109 +BMGC_DS13030,BMG_DS043681,,UMLS ID:C2677504,,,,,"autism, susceptibility to, 15",MONDO:0012801,,,,,,OMIM ID:612100 +BMGC_DS13031,BMG_DS043682,"Trichoepithelioma, Multiple Familial, 2",UMLS ID:C2677505,,,,,"trichoepithelioma, multiple familial, 2",MONDO:0012800,,MeSH ID:C567418,,,,OMIM ID:612099 +BMGC_DS13032,BMG_DS043683,"Cardiomyopathy, Familial Hypertrophic, 11",UMLS ID:C2677506,,,,,hypertrophic cardiomyopathy 11,MONDO:0012799,,MeSH ID:C567419,,,,OMIM ID:612098 +BMGC_DS13033,BMG_DS043684,"Deafness, Unilateral, With Delayed Endolymphatic Hydrops",UMLS ID:C2677512,,,,,"deafness, unilateral, with delayed endolymphatic hydrops",MONDO:0012798,,MeSH ID:C567420,,,,OMIM ID:612097 +BMGC_DS13034,BMG_DS043685,Otosclerosis 8,UMLS ID:C2677515,,,,,otosclerosis 8,MONDO:0012797,,MeSH ID:C567421,,,,OMIM ID:612096 +BMGC_DS13035,BMG_DS043686,Retinitis Pigmentosa 41,UMLS ID:C2677516,,,,,retinitis pigmentosa 41,MONDO:0012796,,MeSH ID:C567422,retinitis pigmentosa 41,DOID:0110376,,OMIM ID:612095 +BMGC_DS13036,BMG_DS043687,Hypophosphatemic Rickets And Hyperparathyroidism,UMLS ID:C2677524,,,,,hypophosphatemic rickets and hyperparathyroidism,MONDO:0012795,,MeSH ID:C567423,,,,OMIM ID:612089 +BMGC_DS13037,BMG_DS043688,"Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",UMLS ID:C2677535,,,,,ANE syndrome,MONDO:0012794,,MeSH ID:C567425,"alopecia, neurologic defects, and endocrinopathy syndrome",DOID:0112244,,OMIM ID:612079 +BMGC_DS13038,BMG_DS043689,"Hypouricemia, Renal, 2",UMLS ID:C2677549,,,,,"hypouricemia, renal, 2",MONDO:0012793,,MeSH ID:C567426,,,,OMIM ID:612076 +BMGC_DS13039,BMG_DS043690,Amyotrophic Lateral Sclerosis 10,UMLS ID:C2677565,,,,,amyotrophic lateral sclerosis type 10,MONDO:0012790,,MeSH ID:C567429,,,,OMIM ID:612069 +BMGC_DS13040,BMG_DS043691,,UMLS ID:C2677567,,,,,dystonia 16,MONDO:0012789,,,,,,OMIM ID:612067 +BMGC_DS13041,BMG_DS043693,"Spastic Paraplegia 39, Autosomal Recessive",UMLS ID:C2677586,,,,,hereditary spastic paraplegia 39,MONDO:0012787,,MeSH ID:C567433,,,,OMIM ID:612020 +BMGC_DS13042,BMG_DS043694,"Cataract, Juvenile, With Microcornea And Glucosuria",UMLS ID:C2677587,,,,,,,,MeSH ID:C567434,,,, +BMGC_DS13043,BMG_DS043696,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",UMLS ID:C2677589,,,,,autosomal recessive ataxia due to ubiquinone deficiency,MONDO:0012784,,,primary coenzyme Q10 deficiency 4,DOID:0070241,,OMIM ID:612016 +BMGC_DS13044,BMG_DS043697,"Congenital Disorder Of Glycosylation, Type In",UMLS ID:C2677590,,,,,RFT1-congenital disorder of glycosylation,MONDO:0012783,,MeSH ID:C567437,,,,OMIM ID:612015 +BMGC_DS13045,BMG_DS043698,,UMLS ID:C2677601,,,,,"celiac disease, susceptibility to, 13",MONDO:0012782,,,,,,OMIM ID:612011 +BMGC_DS13046,BMG_DS043705,Thrombocytopenia 4,UMLS ID:C2677608,,,,,thrombocytopenia 4,MONDO:0012775,,MeSH ID:C567438,,,,OMIM ID:612004 +BMGC_DS13047,BMG_DS043706,Chromosome 15q13.3 Microdeletion Syndrome,UMLS ID:C2677613,,,,,chromosome 15q13.3 microdeletion syndrome,MONDO:0012774,,MeSH ID:C567439,chromosome 15q13.3 microdeletion syndrome,DOID:0060394,,OMIM ID:612001 +BMGC_DS13048,BMG_DS043707,SCHIZOPHRENIA 14,UMLS ID:C2677614,,,,,schizophrenia 14,MONDO:0012879,,,schizophrenia 14,DOID:0070090,,OMIM ID:612361 +BMGC_DS13049,BMG_DS043708,"Deafness, Autosomal Dominant 2A",UMLS ID:C2677637,,,,,autosomal dominant nonsyndromic hearing loss 2A,MONDO:0010817,,MeSH ID:C567441,,,,OMIM ID:600101 +BMGC_DS13050,BMG_DS043709,"Rett Syndrome, Zappella Variant",UMLS ID:C2677682,,,,,,,,MeSH ID:C567442,,,, +BMGC_DS13051,BMG_DS043711,Hunter-Macdonald Syndrome,UMLS ID:C2677745,,,,,Hunter-Macdonald syndrome,MONDO:0012773,,MeSH ID:C567445,,,,OMIM ID:611962 +BMGC_DS13052,BMG_DS043712,Stevenson-Carey Syndrome,UMLS ID:C2677763,,,,,Stevenson-Carey syndrome,MONDO:0012772,,MeSH ID:C567446,,,,OMIM ID:611961 +BMGC_DS13053,BMG_DS043713,,UMLS ID:C2677770,,,,,"asthma-related traits, susceptibility to, 7",MONDO:0012771,,,,,,OMIM ID:611960 +BMGC_DS13054,BMG_DS043717,"Macular Degeneration, Age-Related, 11",UMLS ID:C2677774,,,,,age related macular degeneration 11,MONDO:0012767,,MeSH ID:C567450,,,,OMIM ID:611953 +BMGC_DS13055,BMG_DS043720,Riddle Syndrome,UMLS ID:C2677792,,,,,RIDDLE syndrome,MONDO:0012764,,MeSH ID:C567453,RIDDLE syndrome,DOID:0090113,,OMIM ID:611943 +BMGC_DS13056,BMG_DS043721,,UMLS ID:C2677793,,,,,"epilepsy, idiopathic generalized, susceptibility to, 6",MONDO:0800279,,,,,, +BMGC_DS13057,BMG_DS043722,,UMLS ID:C2677794,,,,,catecholaminergic polymorphic ventricular tachycardia 2,MONDO:0012762,,,,,,OMIM ID:611938 +BMGC_DS13058,BMG_DS043724,"Camptodactyly Syndrome, Guadalajara, Type III",UMLS ID:C2677809,,,,,"camptodactyly syndrome, Guadalajara type 3",MONDO:0012759,,MeSH ID:C567455,,,,OMIM ID:611929 +BMGC_DS13059,BMG_DS043725,,UMLS ID:C2677821,,,,,"prostate cancer, hereditary, 13",MONDO:0012758,,,,,,OMIM ID:611928 +BMGC_DS13060,BMG_DS043726,"Episodic Ataxia, Type 7",UMLS ID:C2677843,,,,,episodic ataxia type 7,MONDO:0012755,,MeSH ID:C567459,,,,OMIM ID:611907 +BMGC_DS13061,BMG_DS043727,"Surfactant Metabolism Dysfunction, Pulmonary, 4",UMLS ID:C2677877,,,,,"surfactant metabolism dysfunction, pulmonary, 4",MONDO:0010424,,MeSH ID:C567461,,,,OMIM ID:300770 +BMGC_DS13062,BMG_DS043728,"Hypospadias 2, X-Linked",UMLS ID:C2677879,,,,,"hypospadias 2, X-linked",MONDO:0010423,,MeSH ID:C567462,,,,OMIM ID:300758 +BMGC_DS13063,BMG_DS043730,"Protoporphyria, Erythropoietic, X-Linked Dominant",UMLS ID:C2677889,,,,,X-linked erythropoietic protoporphyria,MONDO:0010420,,MeSH ID:C567464,,,,OMIM ID:300752 +BMGC_DS13064,BMG_DS043731,"Spastic Paraplegia 34, X-Linked",UMLS ID:C2677897,,,,,hereditary spastic paraplegia 34,MONDO:0010418,,MeSH ID:C567465,,,,OMIM ID:300750 +BMGC_DS13065,BMG_DS043732,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia,UMLS ID:C2677903,,,,,syndromic X-linked intellectual disability Najm type,MONDO:0010417,,MeSH ID:C567466,,,,OMIM ID:300749 +BMGC_DS13066,BMG_DS043733,"Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities",UMLS ID:C2678011,,,,,"deafness, cataract, retinitis pigmentosa, and sperm abnormalities",MONDO:0010416,,MeSH ID:C567467,,,,OMIM ID:300719 +BMGC_DS13067,BMG_DS043734,"Myopathy, Reducing Body, X-Linked, Childhood-Onset",UMLS ID:C2678015,,,,,,,,MeSH ID:C567468,,,, +BMGC_DS13068,BMG_DS043735,"Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",UMLS ID:C2678027,,,,,,,,MeSH ID:C567469,,,, +BMGC_DS13069,BMG_DS043736,,UMLS ID:C2678034,,,,,"intellectual disability, X-linked 95",MONDO:0010413,,,,,,OMIM ID:300716 +BMGC_DS13070,BMG_DS043737,Craniofacioskeletal Syndrome,UMLS ID:C2678036,,,,,X-linked intellectual disability-craniofacioskeletal syndrome,MONDO:0010412,,MeSH ID:C567471,,,,OMIM ID:300712 +BMGC_DS13071,BMG_DS043740,,UMLS ID:C2678039,,,,,syndromic X-linked intellectual disability Shrimpton type,MONDO:0010409,,,,,,OMIM ID:300709 +BMGC_DS13072,BMG_DS043741,"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS",UMLS ID:C2678045,,,,,syndactyly-telecanthus-anogenital and renal malformations syndrome,MONDO:0010408,,,syndactyly-telecanthus-anogenital and renal malformations syndrome,DOID:0111931,,OMIM ID:300707 +BMGC_DS13073,BMG_DS043742,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE",UMLS ID:C2678046,,,,,"intellectual disability, X-linked syndromic, Turner type",MONDO:0010407,,,,,,OMIM ID:300697 | OMIM ID:300612 | OMIM ID:300706 | OMIM ID:309590 | OMIM ID:309590 +BMGC_DS13074,BMG_DS043744,"Spinocerebellar Ataxia, X-Linked 5",UMLS ID:C2678048,,,,,X-linked non progressive cerebellar ataxia,MONDO:0010404,,MeSH ID:C567478,X-linked spinocerebellar ataxia 5,DOID:0111833,,OMIM ID:300703 +BMGC_DS13075,BMG_DS043745,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE",UMLS ID:C2678051,,,,,syndromic X-linked intellectual disability 94,MONDO:0010402,,,,,,OMIM ID:300699 +BMGC_DS13076,BMG_DS043746,"Myopathy, X-Linked, With Postural Muscle Atrophy",UMLS ID:C2678055,,,,,X-linked myopathy with postural muscle atrophy,MONDO:0010401,X-Linked Emery-Dreifuss Muscular Dystrophy,MeSH ID:D000083143,,,,OMIM ID:300696 +BMGC_DS13077,BMG_DS043747,"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",UMLS ID:C2678061,,,,,X-linked scapuloperoneal muscular dystrophy,MONDO:0010400,,,,,,OMIM ID:300163 | OMIM ID:300695 +BMGC_DS13078,BMG_DS043748,Myofibrillar Myopathy,UMLS ID:C2678065,,,,,myofibrillar myopathy,MONDO:0018943,,MeSH ID:C580316,myofibrillar myopathy,DOID:0080307,, +BMGC_DS13079,BMG_DS043749,"Hypospadias 1, X-Linked",UMLS ID:C2678098,,,,,"hypospadias 1, X-linked",MONDO:0010384,,MeSH ID:C567482,,,,OMIM ID:300633 +BMGC_DS13080,BMG_DS043750,Periventricular Laminar Heterotopia,UMLS ID:C2678104,,,,,,,,MeSH ID:C548481,,,, +BMGC_DS13081,BMG_DS043753,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE",UMLS ID:C2678194,,,,,Christianson syndrome,MONDO:0010278,,,,,,OMIM ID:300231 | OMIM ID:300243 +BMGC_DS13082,BMG_DS043754,"Mental Retardation, X-Linked, With Panhypopituitarism",UMLS ID:C2678223,,,,,"intellectual disability, X-linked, with panhypopituitarism",MONDO:0010252,,MeSH ID:C567485,,,,OMIM ID:300123 +BMGC_DS13083,BMG_DS043756,"Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive",UMLS ID:C2678266,,,,,"hypercarotenemia and vitamin A deficiency, autosomal recessive",MONDO:0010182,,MeSH ID:C567486,,,,OMIM ID:277350 +BMGC_DS13084,BMG_DS043757,Thrombocytopenia 3,UMLS ID:C2678311,,,,,thrombocytopenia 3,MONDO:0010120,,MeSH ID:C567487,,,,OMIM ID:273900 +BMGC_DS13085,BMG_DS043758,Three M Syndrome 1,UMLS ID:C2678312,,,,,3M syndrome 1,MONDO:0010117,,MeSH ID:C535314,,,,OMIM ID:273750 +BMGC_DS13086,BMG_DS043759,"Spherocytosis, Type 3",UMLS ID:C2678338,,,,,hereditary spherocytosis type 3,MONDO:0010053,,MeSH ID:C567489,,,,OMIM ID:270970 +BMGC_DS13087,BMG_DS043761,,UMLS ID:C2678403,,,,,"UV-induced skin damage, susceptibility to",MONDO:0800410,,,,,, +BMGC_DS13088,BMG_DS043762,"PITUITARY HORMONE DEFICIENCY, COMBINED, 4",UMLS ID:C2678408,,,,,short stature-pituitary and cerebellar defects-small sella turcica syndrome,MONDO:0009880,,,combined pituitary hormone deficiency 4,DOID:0061017,,OMIM ID:262700 | OMIM ID:602146 +BMGC_DS13089,BMG_DS043764,"Hyperphenylalaninemia, Non-Pku Mild",UMLS ID:C2678416,,,,,,,,MeSH ID:C567494,,,, +BMGC_DS13090,BMG_DS043765,CRANIOOSTEOARTHROPATHY,UMLS ID:C2678439,,,,,cranio-osteoarthropathy,MONDO:0015466,,,,,,OMIM ID:259100 | OMIM ID:601688 +BMGC_DS13091,BMG_DS043766,Nanophthalmos 3,UMLS ID:C2678467,,,,,nanophthalmos 3,MONDO:0012754,,MeSH ID:C567498,,,,OMIM ID:611897 +BMGC_DS13092,BMG_DS043767,Amyotrophic Lateral Sclerosis 9,UMLS ID:C2678468,,,,,amyotrophic lateral sclerosis type 9,MONDO:0012753,,MeSH ID:C567499,,,,OMIM ID:611895 +BMGC_DS13093,BMG_DS043770,Lethal Arthrogryposis With Anterior Horn Cell Disease,UMLS ID:C2678471,,,,,,,,MeSH ID:C567502,,,, +BMGC_DS13094,BMG_DS043772,"Ciliary Dyskinesia, Primary, 7",UMLS ID:C2678473,,,,,primary ciliary dyskinesia 7,MONDO:0012748,,MeSH ID:C567504,,,,OMIM ID:611884 +BMGC_DS13095,BMG_DS043773,"Cardiomyopathy, Dilated, 2a",UMLS ID:C2678474,,,,,dilated cardiomyopathy 2A,MONDO:0012746,,MeSH ID:C567505,,,,OMIM ID:611880 +BMGC_DS13096,BMG_DS043774,"Cardiomyopathy, Dilated, 1z",UMLS ID:C2678475,,,,,dilated cardiomyopathy 1Z,MONDO:0012745,,MeSH ID:C567506,,,,OMIM ID:611879 +BMGC_DS13097,BMG_DS043775,"Cardiomyopathy, Dilated, 1y",UMLS ID:C2678476,,,,,dilated cardiomyopathy 1Y,MONDO:0012744,,MeSH ID:C567507,,,,OMIM ID:611878 +BMGC_DS13098,BMG_DS043776,Brugada Syndrome 4,UMLS ID:C2678477,,,,,Brugada syndrome 4,MONDO:0012743,,MeSH ID:C567508,Brugada syndrome 4,DOID:0110221,,OMIM ID:611876 +BMGC_DS13099,BMG_DS043777,Brugada Syndrome 3,UMLS ID:C2678478,,,,,Brugada syndrome 3,MONDO:0012742,,MeSH ID:C567509,Brugada syndrome 3,DOID:0110220,,OMIM ID:611875 +BMGC_DS13100,BMG_DS043778,,UMLS ID:C2678479,,,,,"prostate cancer, hereditary, 12",MONDO:0012741,,,,,,OMIM ID:611868 +BMGC_DS13101,BMG_DS043779,"Chromosome 22q11.2 Deletion Syndrome, Distal",UMLS ID:C2678480,,,,,"chromosome 22q11.2 deletion syndrome, distal",MONDO:0012740,,MeSH ID:C567511,"chromosome 22q11.2 deletion syndrome, distal",DOID:0060413,,OMIM ID:611867 +BMGC_DS13102,BMG_DS043780,Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma,UMLS ID:C2678482,,,,,microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,MONDO:0012739,,MeSH ID:C567512,,,,OMIM ID:611863 +BMGC_DS13103,BMG_DS043781,Long Qt Syndrome 11,UMLS ID:C2678483,,,,,long QT syndrome 11,MONDO:0012738,,MeSH ID:C567513,long QT syndrome 11,DOID:0110652,,OMIM ID:611820 +BMGC_DS13104,BMG_DS043782,Long Qt Syndrome 10,UMLS ID:C2678484,,,,,long QT syndrome 10,MONDO:0012737,,MeSH ID:C567514,long QT syndrome 10,DOID:0110651,,OMIM ID:611819 +BMGC_DS13105,BMG_DS043783,Long Qt Syndrome 9,UMLS ID:C2678485,,,,,long QT syndrome 9,MONDO:0012736,,MeSH ID:C567515,long QT syndrome 9,DOID:0110650,,OMIM ID:611818 +BMGC_DS13106,BMG_DS043784,Temple-Baraitser Syndrome,UMLS ID:C2678486,,,,,Temple-Baraitser syndrome,MONDO:0012735,,MeSH ID:C567516,,,,OMIM ID:611816 +BMGC_DS13107,BMG_DS043785,"Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",UMLS ID:C2678492,,,,,SERKAL syndrome,MONDO:0012734,,MeSH ID:C567517,,,,OMIM ID:611812 +BMGC_DS13108,BMG_DS043786,"Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus",UMLS ID:C2678494,,,,,"tremor, hereditary essential, and idiopathic normal pressure hydrocephalus",MONDO:0012732,,MeSH ID:C567519,,,,OMIM ID:611808 +BMGC_DS13109,BMG_DS043787,Elliptocytosis 1,UMLS ID:C2678497,,,,,elliptocytosis 1,MONDO:0012731,,MeSH ID:C567520,,,,OMIM ID:611804 +BMGC_DS13110,BMG_DS043788,"AXENFELD-RIEGER SYNDROME, TYPE 3",UMLS ID:C2678503,,,,,Axenfeld-Rieger syndrome type 3,MONDO:0011233,,,,,,OMIM ID:601090 | OMIM ID:602482 +BMGC_DS13111,BMG_DS043789,"SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",UMLS ID:C2680446,,,,,hereditary spastic paraplegia 43,MONDO:0014024,,,,,,OMIM ID:614297 | OMIM ID:615043 +BMGC_DS13112,BMG_DS043790,"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1",UMLS ID:C2681535,,,,,,,,,,,,OMIM ID:614233 +BMGC_DS13113,BMG_DS043791,Retinitis Pigmentosa 2,UMLS ID:C2681923,,,,,retinitis pigmentosa 2,MONDO:0010723,,MeSH ID:C567523,retinitis pigmentosa 2,DOID:0110415,,OMIM ID:312600 +BMGC_DS13114,BMG_DS043792,,UMLS ID:C2684859,,,,,"aplastic anemia, susceptibility to",MONDO:0800414,,,,,, +BMGC_DS13115,BMG_DS043793,,UMLS ID:C2697310,,,,,"sarcoidosis, susceptibility to, 1",MONDO:0008399,,,,,,OMIM ID:181000 +BMGC_DS13116,BMG_DS043794,,UMLS ID:C2697358,,,,,"46,XY ovotesticular disorder of sex development",MONDO:0017968,,,,,, +BMGC_DS13117,BMG_DS043796,,UMLS ID:C2697447,,,,,nevus flammeus of nape of neck,MONDO:0008096,,,,,,OMIM ID:163100 +BMGC_DS13118,BMG_DS043797,Loeys-Dietz Syndrome,UMLS ID:C2697932,,,,,Loeys-Dietz syndrome,MONDO:0018954,Loeys-Dietz Syndrome,MeSH ID:D055947,Loeys-Dietz syndrome,DOID:0050466,, +BMGC_DS13119,BMG_DS043798,,UMLS ID:C2698311,,,,,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,MONDO:0035943,,,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,DOID:0080646,, +BMGC_DS13120,BMG_DS043799,,UMLS ID:C2698312,,,,,B-lymphoblastic leukemia/lymphoma with hypodiploidy,MONDO:0035944,,,B-lymphoblastic leukemia/lymphoma with hypodiploidy,DOID:0080647,, +BMGC_DS13121,BMG_DS043800,,UMLS ID:C2698313,,,,,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,MONDO:0035605,,,,,, +BMGC_DS13122,BMG_DS043801,,UMLS ID:C2698315,,,,,B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1),MONDO:0600030,,,,,, +BMGC_DS13123,BMG_DS043805,,UMLS ID:C2699510,,,,,split hand,MONDO:0017449,,,,,, +BMGC_DS13124,BMG_DS043807,,UMLS ID:C2699746,,,,,synpolydactyly,MONDO:0021651,,,synpolydactyly,DOID:0060242,, +BMGC_DS13125,BMG_DS043811,,UMLS ID:C2700265,,,,,Waardenburg syndrome type 2,MONDO:0019517,,,,,, +BMGC_DS13126,BMG_DS043812,"WAARDENBURG SYNDROME, TYPE IIE",UMLS ID:C2700405,,,,,Waardenburg syndrome type 2E,MONDO:0012698,,,Waardenburg syndrome type 2E,DOID:0110956,,OMIM ID:611584 +BMGC_DS13127,BMG_DS043813,,UMLS ID:C2700406,,,,,"scoliosis, isolated, susceptibility to, 1",MONDO:0008419,,,,,,OMIM ID:181800 +BMGC_DS13128,BMG_DS043814,"EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",UMLS ID:C2700425,,,,,"Ehlers-Danlos syndrome, dermatosparaxis type",MONDO:0009161,,,Ehlers-Danlos syndrome dermatosparaxis type,DOID:0080733,,OMIM ID:225410 | OMIM ID:604539 +BMGC_DS13129,BMG_DS043815,,UMLS ID:C2700426,,,,,"nephrolithiasis, uric acid, susceptibility to",MONDO:0011622,,,,,,OMIM ID:605990 +BMGC_DS13130,BMG_DS043816,,UMLS ID:C2700438,,,,,major affective disorder 7,MONDO:0012881,,,,,,OMIM ID:612371 +BMGC_DS13131,BMG_DS043819,Omenn Syndrome,UMLS ID:C2700553,,,,,Omenn syndrome,MONDO:0011338,Severe Combined Immunodeficiency,MeSH ID:D016511,,,,OMIM ID:603554 +BMGC_DS13132,BMG_DS043842,Influenza caused by Influenza A virus,UMLS ID:C2711180,Influenza caused by Influenza A virus (disorder) | Influenza caused by Influenza A virus,SNOMEDCT ID:442438000,,,,,,,,,, +BMGC_DS13133,BMG_DS043846,Steatohepatitis,UMLS ID:C2711227,Steatohepatitis | Steatohepatitis (disorder),SNOMEDCT ID:442191002,,,fatty liver disease,MONDO:0004790,Fatty Liver,MeSH ID:D005234,,,, +BMGC_DS13134,BMG_DS043852,,UMLS ID:C2711248,,,,,osteonecrosis of the jaw,MONDO:0018378,,,,,, +BMGC_DS13135,BMG_DS043853,Ischemic priapism,UMLS ID:C2711256,Ischaemic priapism | Ischemic priapism | Low flow priapism | Veno-occlusive priapism | Ischemic priapism (disorder),SNOMEDCT ID:441575009,,,,,,,,,, +BMGC_DS13136,BMG_DS043888,Combined immunodeficiency disease,UMLS ID:C2711630,Combined immunodeficiency disease | Combined immunodeficiency disease (disorder),SNOMEDCT ID:442459007,,,combined immunodeficiency,MONDO:0015131,,,combined T cell and B cell immunodeficiency,DOID:628,, +BMGC_DS13137,BMG_DS043890,Epilepsy characterized by intractable complex partial seizures,UMLS ID:C2711653,Epilepsy characterised by intractable complex partial seizures | Epilepsy characterized by intractable complex partial seizures | Epilepsy characterized by intractable complex partial seizures (disorder),SNOMEDCT ID:442481002,,,,,,,,,, +BMGC_DS13138,BMG_DS043904,Lateral cystocele,UMLS ID:C2711750,Lateral cystocele | Lateral cystocele (disorder),SNOMEDCT ID:441891001,,,lateral cystocele,MONDO:0001885,,,lateral cystocele,DOID:14130,, +BMGC_DS13139,BMG_DS043929,Gout attack,UMLS ID:C2712871,,,,,,,,,,,ICD10 ID:M10, +BMGC_DS13140,BMG_DS043934,Arylsulfatase A Deficiency,UMLS ID:C2713319,,,,,,,"Leukodystrophy, Metachromatic",MeSH ID:D007966,,,, +BMGC_DS13141,BMG_DS043935,alpha-L-Iduronidase Deficiency,UMLS ID:C2713321,,,,,,,Mucopolysaccharidosis I,MeSH ID:D008059,,,, +BMGC_DS13142,BMG_DS043936,7-Dehydrocholesterol Reductase Deficiency,UMLS ID:C2713347,,,,,,,Smith-Lemli-Opitz Syndrome,MeSH ID:D019082,,,, +BMGC_DS13143,BMG_DS043937,,UMLS ID:C2713368,,,,,,,,,myelodysplastic syndrome,DOID:0050908,, +BMGC_DS13144,BMG_DS043938,"Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",UMLS ID:C2713392,,,,,,,Oculocerebrorenal Syndrome,MeSH ID:D009800,,,, +BMGC_DS13145,BMG_DS043939,Haim-Monk Syndrome,UMLS ID:C2713394,,,,,,,Papillon-Lefevre Disease,MeSH ID:D010214,,,, +BMGC_DS13146,BMG_DS043940,"Polyposis, Adenomatous Intestinal",UMLS ID:C2713442,,,,,familial adenomatous polyposis 1,MONDO:0021056,Adenomatous Polyposis Coli,MeSH ID:D011125,,,,OMIM ID:175100 +BMGC_DS13147,BMG_DS043941,Familial Intestinal Polyposis,UMLS ID:C2713443,,,,,,,Adenomatous Polyposis Coli,MeSH ID:D011125,,,, +BMGC_DS13148,BMG_DS043942,"Hyperpotassemia and Hypertension, Familial",UMLS ID:C2713447,,,,,,,Pseudohypoaldosteronism,MeSH ID:D011546,,,, +BMGC_DS13149,BMG_DS043943,Total Hexosaminidase Deficiency,UMLS ID:C2713499,,,,,,,Sandhoff Disease,MeSH ID:D012497,,,, +BMGC_DS13150,BMG_DS043944,Deficiency of Platelet Glycoprotein 1b,UMLS ID:C2713537,,,,,,,Bernard-Soulier Syndrome,MeSH ID:D001606,,,, +BMGC_DS13151,BMG_DS043945,Androgen Receptor Deficiency,UMLS ID:C2713546,,,,,,,Androgen-Insensitivity Syndrome,MeSH ID:D013734,,,, +BMGC_DS13152,BMG_DS043949,Platelet alpha-Granule Deficiency,UMLS ID:C2717750,,,,,,,Gray Platelet Syndrome,MeSH ID:D055652,,,, +BMGC_DS13153,BMG_DS043952,Steroid Sulfatase Deficiency Disease,UMLS ID:C2717836,,,,,,,"Ichthyosis, X-Linked",MeSH ID:D016114,,,, +BMGC_DS13154,BMG_DS043953,"Drug-Induced Liver Injury, Chronic",UMLS ID:C2717837,,,,,,,"Chemical and Drug Induced Liver Injury, Chronic",MeSH ID:D056487,,,, +BMGC_DS13155,BMG_DS043954,Encapsulating Peritoneal Sclerosis,UMLS ID:C2717860,,,,,,,Peritoneal Fibrosis,MeSH ID:D056627,,,, +BMGC_DS13156,BMG_DS043958,Propionic Aciduria,UMLS ID:C2717876,,,,,,,Propionic Acidemia,MeSH ID:D056693,propionic acidemia,DOID:14701,, +BMGC_DS13157,BMG_DS043959,"Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",UMLS ID:C2717884,,,,,autoimmune lymphoproliferative syndrome,MONDO:0017979,Autoimmune Lymphoproliferative Syndrome,MeSH ID:D056735,,,, +BMGC_DS13158,BMG_DS043960,Hereditary Angioedema Types I and II,UMLS ID:C2717905,,,,,,,Hereditary Angioedema Types I and II,MeSH ID:D056829,,,, +BMGC_DS13159,BMG_DS043961,Hereditary Angioedema Type I,UMLS ID:C2717906,,,,,hereditary angioedema type 1,MONDO:0015053,Hereditary Angioedema Types I and II,MeSH ID:D056829,,,, +BMGC_DS13160,BMG_DS043962,Isolated Noncompaction of the Ventricular Myocardium,UMLS ID:C2717907,,,,,,,Isolated Noncompaction of the Ventricular Myocardium,MeSH ID:D056830,,,, +BMGC_DS13161,BMG_DS043966,Thrombotic Microangiopathies,UMLS ID:C2717961,,,,,thrombotic microangiopathy,MONDO:0019737,Thrombotic Microangiopathies,MeSH ID:D057049,,,, +BMGC_DS13162,BMG_DS043972,Alcoholic Steatohepatitis,UMLS ID:C2718067,,,,,,,"Fatty Liver, Alcoholic",MeSH ID:D005235,,,, +BMGC_DS13163,BMG_DS043973,beta-Galactosidase Deficiency,UMLS ID:C2718068,,,,,,,"Gangliosidosis, GM1",MeSH ID:D016537,,,, +BMGC_DS13164,BMG_DS043974,Deficiency of Uroporphyrinogen III Synthase,UMLS ID:C2718078,,,,,,,"Porphyria, Erythropoietic",MeSH ID:D017092,,,, +BMGC_DS13165,BMG_DS043976,Sulfoiduronate Sulfatase Deficiency,UMLS ID:C2718304,,,,,,,Mucopolysaccharidosis II,MeSH ID:D016532,,,, +BMGC_DS13166,BMG_DS043977,Placental Steroid Sulfatase Deficiency,UMLS ID:C2720163,,,,,,,"Ichthyosis, X-Linked",MeSH ID:D016114,,,, +BMGC_DS13167,BMG_DS043978,"ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",UMLS ID:C2720289,,,,,"anemia, nonspherocytic hemolytic, due to G6PD deficiency",MONDO:0010480,,,congenital nonspherocytic hemolytic anemia 1,DOID:0051003,,OMIM ID:305900 | OMIM ID:300908 +BMGC_DS13168,BMG_DS043979,Fibrosis of pleura,UMLS ID:C2720436,Thickening of pleura | Pleural thickening | Pleural cuirasse | Thickening of pleura (disorder) | Fibrosis of pleura | Pleural fibrosis | Fibrosis of pleura (disorder),SNOMEDCT ID:73725006 | SNOMEDCT ID:442110002,,,,,,,,,, +BMGC_DS13169,BMG_DS043996,Auditory neuropathy spectrum disorder,UMLS ID:C2732267,Auditory neuropathy spectrum disorder (disorder) | Auditory neuropathy spectrum disorder | Auditory neuropathy with dys-synchrony,SNOMEDCT ID:443805006,,,,,,,,,, +BMGC_DS13170,BMG_DS044037,Cerebral Small Vessel Diseases,UMLS ID:C2733158,,,,,,,Cerebral Small Vessel Diseases,MeSH ID:D059345,,,, +BMGC_DS13171,BMG_DS044060,Pulmonary Mycobacterium avium complex infection,UMLS ID:C2733595,Pulmonary Mycobacterium avium complex infection (disorder) | Pulmonary Mycobacterium avium complex infection | Pulmonary Mycobacterium avium-intracellulare infection,SNOMEDCT ID:186342000,,,,,,,,,, +BMGC_DS13172,BMG_DS044061,Disorder of lumbar disc,UMLS ID:C2733598,Disorder of lumbar disc (disorder) | Disorder of lumbar disc,SNOMEDCT ID:443700006,,,,,,,,,, +BMGC_DS13173,BMG_DS044069,Juvenile-Onset Vitelliform Macular Dystrophy,UMLS ID:C2745945,,,,,vitelliform macular dystrophy 2,MONDO:0007931,Vitelliform Macular Dystrophy,MeSH ID:D057826,vitelliform macular dystrophy,DOID:0050661,,OMIM ID:153700 +BMGC_DS13174,BMG_DS044070,"Hyalinosis, Systemic",UMLS ID:C2745948,,,,,juvenile hyaline fibromatosis,MONDO:0016071,Hyaline Fibromatosis Syndrome,MeSH ID:D057770,hyaline fibromatosis syndrome,DOID:0111669,, +BMGC_DS13175,BMG_DS044071,Spondylometaphyseal dysplasia with dentinogenesis imperfecta,UMLS ID:C2745953,,,,,odontochondrodysplasia,MONDO:0031169,,MeSH ID:C535792,,,, +BMGC_DS13176,BMG_DS044072,,UMLS ID:C2745959,,,,,spondyloepiphyseal dysplasia congenita,MONDO:0008471,,,,,,OMIM ID:183900 +BMGC_DS13177,BMG_DS044074,Kashin-Beck Disease,UMLS ID:C2745963,,,,,Kashin-Beck disease,MONDO:0005610,Kashin-Beck Disease,MeSH ID:D057767,,,, +BMGC_DS13178,BMG_DS044075,Fitzsimmons-McLachlan-Gilbert syndrome,UMLS ID:C2745996,,,,,paraplegia-intellectual disability-hyperkeratosis syndrome,MONDO:0010662,,MeSH ID:C537058,,,,OMIM ID:309560 +BMGC_DS13179,BMG_DS044076,OROFACIODIGITAL SYNDROME VI,UMLS ID:C2745997,,,,,orofaciodigital syndrome type 6,MONDO:0010176,,,Joubert syndrome with orofaciodigital defect,DOID:0060376,,OMIM ID:277170 | OMIM ID:614571 +BMGC_DS13180,BMG_DS044077,2-Hydroxyglutaricaciduria,UMLS ID:C2746066,,,,,2-hydroxyglutaric aciduria,MONDO:0016001,,MeSH ID:C535306,2-hydroxyglutaric aciduria,DOID:0050573,, +BMGC_DS13181,BMG_DS044079,Congenital idiopathic intestinal pseudoobstruction,UMLS ID:C2746068,,,,,"intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",MONDO:0010232,,MeSH ID:C535532,,,,OMIM ID:300048 +BMGC_DS13182,BMG_DS044080,Familial ectopia lentis,UMLS ID:C2746069,,,,,,,,MeSH ID:C536184,isolated ectopia lentis,DOID:0111148,, +BMGC_DS13183,BMG_DS044081,"Deafness, Autosomal Recessive 77",UMLS ID:C2746083,,,,,autosomal recessive nonsyndromic hearing loss 77,MONDO:0013119,,MeSH ID:C567543,,,,OMIM ID:613079 +BMGC_DS13184,BMG_DS044083,Cronobacter Infections,UMLS ID:C2747880,,,,,,,Enterobacteriaceae Infections,MeSH ID:D004756,,,, +BMGC_DS13185,BMG_DS044086,Sensorineural Deafness With Mild Renal Dysfunction,UMLS ID:C2748440,,,,,,,,MeSH ID:C567544,,,, +BMGC_DS13186,BMG_DS044088,,UMLS ID:C2748501,,,,,"leishmaniasis, tegumentary, susceptibility to",MONDO:0011179,,,,,,OMIM ID:602068 +BMGC_DS13187,BMG_DS044089,"CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",UMLS ID:C2748502,,,,,posterior amorphous corneal dystrophy,MONDO:0013027,,,,,,OMIM ID:612868 +BMGC_DS13188,BMG_DS044092,Orofacial Cleft 12,UMLS ID:C2748505,,,,,orofacial cleft 12,MONDO:0013023,,MeSH ID:C567548,orofacial cleft 12,DOID:0080405,,OMIM ID:612858 +BMGC_DS13189,BMG_DS044093,,UMLS ID:C2748506,,,,,"restless legs syndrome, susceptibility to, 7",MONDO:0013022,,,,,,OMIM ID:612853 +BMGC_DS13190,BMG_DS044094,INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY,UMLS ID:C2748507,,,,,sterile multifocal osteomyelitis with periostitis and pustulosis,MONDO:0013021,,,,,,OMIM ID:612852 +BMGC_DS13191,BMG_DS044096,,UMLS ID:C2748515,,,,,"spondyloepimetaphyseal dysplasia, PAPSS2 type",MONDO:0019666,,,,,,OMIM ID:612847 +BMGC_DS13192,BMG_DS044098,Lumbar scoliosis,UMLS ID:C2748518,,,,,,,,,,,,OMIM ID:MTHU024856 +BMGC_DS13193,BMG_DS044099,"Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant",UMLS ID:C2748527,,,,,"keratosis follicularis spinulosa decalvans, autosomal dominant",MONDO:0013018,,MeSH ID:C567553,,,,OMIM ID:612843 +BMGC_DS13194,BMG_DS044100,Hypotrichosis 5,UMLS ID:C2748535,,,,,hypotrichosis 5,MONDO:0013017,,MeSH ID:C567554,hypotrichosis 5,DOID:0110702,,OMIM ID:612841 +BMGC_DS13195,BMG_DS044101,"Leukocyte Adhesion Deficiency, Type III",UMLS ID:C2748536,,,,,leukocyte adhesion deficiency 3,MONDO:0013016,,MeSH ID:C567555,,,,OMIM ID:612840 +BMGC_DS13196,BMG_DS044102,Brugada Syndrome 5,UMLS ID:C2748541,,,,,Brugada syndrome 5,MONDO:0013015,,MeSH ID:C567556,Brugada syndrome 5,DOID:0110222,,OMIM ID:612838 +BMGC_DS13197,BMG_DS044103,"Cardiac Conduction Defect, Nonspecific",UMLS ID:C2748542,,,,,conduction system disorder,MONDO:0005449,,MeSH ID:C567557,,,, +BMGC_DS13198,BMG_DS044104,"Spondyloepimetaphyseal Dysplasia, Aggrecan Type",UMLS ID:C2748544,,,,,"spondyloepimetaphyseal dysplasia, aggrecan type",MONDO:0013014,,MeSH ID:C567558,,,,OMIM ID:612813 +BMGC_DS13199,BMG_DS044105,,UMLS ID:C2748545,,,,,"question mark ears, isolated",MONDO:0013013,,,,,,OMIM ID:612798 +BMGC_DS13200,BMG_DS044106,Inflammatory Bowel Disease 27,UMLS ID:C2748550,,,,,inflammatory bowel disease 27,MONDO:0013012,,MeSH ID:C567559,inflammatory bowel disease 27,DOID:0110902,,OMIM ID:612796 +BMGC_DS13201,BMG_DS044107,Atrial Septal Defect 5,UMLS ID:C2748552,,,,,atrial septal defect 5,MONDO:0013011,,MeSH ID:C567561,,,,OMIM ID:612794 +BMGC_DS13202,BMG_DS044108,"Deafness, Autosomal Recessive 71",UMLS ID:C2748554,,,,,autosomal recessive nonsyndromic hearing loss 71,MONDO:0013010,,MeSH ID:C567562,,,,OMIM ID:612789 +BMGC_DS13203,BMG_DS044110,Immune dysfunction with T-cell inactivation due to calcium entry defect 2,UMLS ID:C2748557,,,,,combined immunodeficiency due to STIM1 deficiency,MONDO:0013008,,MeSH ID:C557827,immunodeficiency 10,DOID:0111970,,OMIM ID:612783 +BMGC_DS13204,BMG_DS044111,Immune dysfunction with T-cell inactivation due to calcium entry defect 1,UMLS ID:C2748568,,,,,combined immunodeficiency due to ORAI1 deficiency,MONDO:0013007,,MeSH ID:C557826,immunodeficiency 9,DOID:0111976,,OMIM ID:612782 +BMGC_DS13205,BMG_DS044112,"Isolated Growth Hormone Deficiency, Type IB",UMLS ID:C2748571,,,,,isolated growth hormone deficiency type IB,MONDO:0013006,,MeSH ID:C567564,,,,OMIM ID:612781 +BMGC_DS13206,BMG_DS044113,SeSAME syndrome,UMLS ID:C2748572,,,,,EAST syndrome,MONDO:0013005,,MeSH ID:C557674,EAST syndrome,DOID:0060484,,OMIM ID:612780 +BMGC_DS13207,BMG_DS044115,Hypoglossia With Situs Inversus,UMLS ID:C2748587,,,,,isolated congenital hypoglossia/aglossia,MONDO:0013003,,MeSH ID:C567567,,,,OMIM ID:612776 +BMGC_DS13208,BMG_DS044119,Mitchell-Riley Syndrome,UMLS ID:C2748662,,,,,hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome,MONDO:0017400,,MeSH ID:C567570,,,,OMIM ID:615710 +BMGC_DS13209,BMG_DS044121,"Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor",UMLS ID:C2748783,,,,,"vitamin D-dependent rickets, type 2B",MONDO:0010931,,MeSH ID:C567571,,,,OMIM ID:600785 +BMGC_DS13210,BMG_DS044123,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",UMLS ID:C2748801,,,,,"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",MONDO:0010912,,,congenital fibrosis of the extraocular muscles 3A,DOID:0081017,,OMIM ID:600638 | OMIM ID:602661 +BMGC_DS13211,BMG_DS044124,"CARDIOMYOPATHY, INFANTILE HYPERTROPHIC",UMLS ID:C2748884,,,,,"cardiomyopathy, infantile hypertrophic",MONDO:0010777,,,infantile hypertrophic cardiomyopathy,DOID:0111753,,OMIM ID:500006 | OMIM ID:516060 | OMIM ID:516070 +BMGC_DS13212,BMG_DS044125,Ovotesticular Disorders of Sex Development,UMLS ID:C2748895,,,,,"46,XX sex reversal 1",MONDO:0100250,Ovotesticular Disorders of Sex Development,MeSH ID:D050090,,,,OMIM ID:400045 +BMGC_DS13213,BMG_DS044126,"46,Xy Gonadal Dysgenesis, Complete, Sry-Related",UMLS ID:C2748896,,,,,"46,XY sex reversal 1",MONDO:0020712,,MeSH ID:C567574,,,,OMIM ID:400044 +BMGC_DS13214,BMG_DS044127,"46,Xy True Hermaphroditism, Sry-Related",UMLS ID:C2748897,,,,,,,,MeSH ID:C567575,,,, +BMGC_DS13215,BMG_DS044128,"Rett Syndrome, Atypical",UMLS ID:C2748910,,,,,atypical Rett syndrome,MONDO:0017746,,MeSH ID:C567576,,,, +BMGC_DS13216,BMG_DS044129,Otopalatodigital Spectrum Disorder,UMLS ID:C2748918,,,,,otopalatodigital syndrome spectrum disorder,MONDO:0018233,,MeSH ID:C567577,,,, +BMGC_DS13217,BMG_DS044131,"Glycogen Storage Disease, Type IXA2",UMLS ID:C2748941,,,,,glycogen storage disease IXa2,MONDO:0100439,,MeSH ID:C567579,,,, +BMGC_DS13218,BMG_DS044132,Chromosome Xq28 Duplication Syndrome,UMLS ID:C2749007,,,,,chromosome Xq28 duplication syndrome,MONDO:0010436,,MeSH ID:C567580,,,,OMIM ID:300815 +BMGC_DS13219,BMG_DS044134,"Thrombophilia, X-Linked, Due To Factor Ix Defect",UMLS ID:C2749016,,,,,"thrombophilia, X-linked, due to factor 9 defect",MONDO:0010432,,MeSH ID:C567581,X-linked thrombophilia due to factor IX defect,DOID:0111899,,OMIM ID:300807 +BMGC_DS13220,BMG_DS044135,Joubert Syndrome 10,UMLS ID:C2749019,,,,,Joubert syndrome 10,MONDO:0010431,,MeSH ID:C567582,Joubert syndrome 10,DOID:0110981,,OMIM ID:300804 +BMGC_DS13221,BMG_DS044136,,UMLS ID:C2749020,,,,,"intellectual disability, X-linked 97",MONDO:0010430,,,,,,OMIM ID:300803 +BMGC_DS13222,BMG_DS044137,Chromosome Xp11.23-P11.22 Duplication Syndrome,UMLS ID:C2749022,,,,,chromosome Xp11.23-p11.22 duplication syndrome,MONDO:0010428,,MeSH ID:C567585,chromosome Xp11.23-p11.22 duplication syndrome,DOID:0060461,,OMIM ID:300801 +BMGC_DS13223,BMG_DS044138,"Corneal Dystrophy, Endothelial, X-Linked",UMLS ID:C2749049,,,,,X-linked endothelial corneal dystrophy,MONDO:0010426,,MeSH ID:C567587,X-linked endothelial corneal dystrophy,DOID:0060446,,OMIM ID:300779 +BMGC_DS13224,BMG_DS044139,"Corneal Dystrophy, Lisch Epithelial",UMLS ID:C2749050,,,,,Lisch epithelial corneal dystrophy,MONDO:0010425,,MeSH ID:C567588,Lisch epithelial corneal dystrophy,DOID:0060450,,OMIM ID:620763 | OMIM ID:300778 +BMGC_DS13225,BMG_DS044140,"Emery-Dreifuss Muscular Dystrophy 6, X-Linked",UMLS ID:C2749106,,,,,"Emery-Dreifuss muscular dystrophy 6, X-linked",MONDO:0800318,X-Linked Emery-Dreifuss Muscular Dystrophy,MeSH ID:D000083143,,,, +BMGC_DS13226,BMG_DS044141,"Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked",UMLS ID:C2749128,,,,,"myopathy, congenital, with fiber-type disproportion, X-linked",MONDO:0010365,,MeSH ID:C567594,,,,OMIM ID:300580 +BMGC_DS13227,BMG_DS044142,"Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",UMLS ID:C2749137,,,,,obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome,MONDO:0010330,,MeSH ID:C567595,,,,OMIM ID:300455 +BMGC_DS13228,BMG_DS044143,"Mineralocorticoid Deficiency, Isolated",UMLS ID:C2749175,,,,,,,,MeSH ID:C567596,,,, +BMGC_DS13229,BMG_DS044144,"46,XX SEX REVERSAL 2",UMLS ID:C2749215,,,,,"46,XX sex reversal 2",MONDO:0010218,,,"46,XX sex reversal 2",DOID:0111763,,OMIM ID:278850 | OMIM ID:608160 +BMGC_DS13230,BMG_DS044145,Vater Association With Macrocephaly And Ventriculomegaly,UMLS ID:C2749240,,,,,,,,MeSH ID:C564752,,,, +BMGC_DS13231,BMG_DS044146,"Gm2-Gangliosidosis, Variant B1",UMLS ID:C2749283,,,,,,,,MeSH ID:C567601,,,, +BMGC_DS13232,BMG_DS044148,"Refsum Disease, Adult, 1",UMLS ID:C2749345,,,,,,,,MeSH ID:C567602,,,, +BMGC_DS13233,BMG_DS044149,"Refsum Disease, Adult, 2",UMLS ID:C2749346,,,,,peroxisome biogenesis disorder 9B,MONDO:0013945,,MeSH ID:C567603,,,,OMIM ID:614879 +BMGC_DS13234,BMG_DS044150,"Oculodentodigital Dysplasia, Autosomal Recessive",UMLS ID:C2749477,,,,,"oculodentodigital dysplasia, autosomal recessive",MONDO:0009768,,MeSH ID:C567605,,,,OMIM ID:257850 +BMGC_DS13235,BMG_DS044151,,UMLS ID:C2749485,,,,,"neuroblastoma, susceptibility to, 1",MONDO:0009741,,,,,,OMIM ID:256700 +BMGC_DS13236,BMG_DS044152,"MYOPIA 18, AUTOSOMAL RECESSIVE",UMLS ID:C2749509,,,,,"myopia 18, autosomal recessive",MONDO:0009713,,,,,,OMIM ID:255500 +BMGC_DS13237,BMG_DS044154,"Methemoglobinemia, Type I",UMLS ID:C2749559,,,,,,,,MeSH ID:C537841,,,, +BMGC_DS13238,BMG_DS044155,"Methemoglobinemia, Type Ii",UMLS ID:C2749560,,,,,,,,MeSH ID:C537841,,,, +BMGC_DS13239,BMG_DS044156,"Nadh-Cytochrome B5 Reductase Deficiency, Type I",UMLS ID:C2749561,,,,,,,,MeSH ID:C537841,,,, +BMGC_DS13240,BMG_DS044157,"Nadh-Cytochrome B5 Reductase Deficiency, Type Ii",UMLS ID:C2749562,,,,,,,,MeSH ID:C537841,,,, +BMGC_DS13241,BMG_DS044159,"AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",UMLS ID:C2749602,,,,,,,,,,,,OMIM ID:607358 +BMGC_DS13242,BMG_DS044160,,UMLS ID:C2749604,,,,,"hemolytic uremic syndrome, atypical, susceptibility to, 1",MONDO:0009335,,,,,,OMIM ID:235400 +BMGC_DS13243,BMG_DS044161,Motor axonal neuropathy,UMLS ID:C2749625,,,,,,,,,,,,OMIM ID:MTHU026112 +BMGC_DS13244,BMG_DS044163,"MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE",UMLS ID:C2749656,,,,,"megaloblastic anemia, folate-responsive",MONDO:0011141,,,,,,OMIM ID:600424 | OMIM ID:601775 +BMGC_DS13245,BMG_DS044164,Aicardi-Goutieres syndrome 5,UMLS ID:C2749659,,,,,Aicardi-Goutieres syndrome 5,MONDO:0013059,,MeSH ID:C535608,,,,OMIM ID:612952 +BMGC_DS13246,BMG_DS044165,Split-Hand-Foot Malformation 6,UMLS ID:C2749665,,,,,split hand-foot malformation 6,MONDO:0009157,,MeSH ID:C567616,,,,OMIM ID:225300 +BMGC_DS13247,BMG_DS044167,"CYSTINOSIS, ATYPICAL NEPHROPATHIC",UMLS ID:C2749685,,,,,,,,,,,,OMIM ID:219800 | OMIM ID:606272 +BMGC_DS13248,BMG_DS044168,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1,UMLS ID:C2749757,,,,,bronchiectasis with or without elevated sweat chloride 1,MONDO:0008887,,,bronchiectasis 1,DOID:0080526,,OMIM ID:211400 | OMIM ID:600760 +BMGC_DS13249,BMG_DS044169,"Macrothrombocytopenia-Stomatocytosis, Mediterranean",UMLS ID:C2749759,,,,,sitosterolemia 1,MONDO:0020747,,MeSH ID:C537345,,,,OMIM ID:210250 +BMGC_DS13250,BMG_DS044172,MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY),UMLS ID:C2749861,,,,,mitochondrial DNA depletion syndrome 8a,MONDO:0012792,,,,,,OMIM ID:604712 | OMIM ID:612075 +BMGC_DS13251,BMG_DS044173,"Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related",UMLS ID:C2749862,,,,,,,,MeSH ID:C536350,mitochondrial DNA depletion syndrome 8b | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 1,DOID:0080127;DOID:0070331;DOID:0080119,, +BMGC_DS13252,BMG_DS044174,Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria,UMLS ID:C2749864,Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder) | Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria | Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria | Mitochondrial encephalomyopathy aminoacidopathy syndrome | mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria | Booth Haworth Dilling syndrome,SNOMEDCT ID:1197052008,,,"mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",MONDO:0012791,,,,,,OMIM ID:612073 +BMGC_DS13253,BMG_DS044175,,UMLS ID:C2749872,,,,,"epilepsy, childhood absence, susceptibility to, 6",MONDO:0012763,,,,,,OMIM ID:611942 +BMGC_DS13254,BMG_DS044176,Chromosome 3q29 Duplication Syndrome,UMLS ID:C2749873,,,,,chromosome 3q29 microduplication syndrome,MONDO:0012761,,MeSH ID:C567626,chromosome 3q29 microduplication syndrome,DOID:0060459,,OMIM ID:611936 +BMGC_DS13255,BMG_DS044178,"Spastic Paraplegia 18, Autosomal Recessive",UMLS ID:C2749936,,,,,hereditary spastic paraplegia 18,MONDO:0012639,,MeSH ID:C567628,,,,OMIM ID:611225 +BMGC_DS13256,BMG_DS044179,,UMLS ID:C2749982,,,,,"thyrotoxic periodic paralysis, susceptibility to, 1",MONDO:0008570,,,,,,OMIM ID:188580 +BMGC_DS13257,BMG_DS044180,Growth Hormone Deficiency With Pituitary Anomalies,UMLS ID:C2750027,,,,,,,,MeSH ID:C567632,,,, +BMGC_DS13258,BMG_DS044182,"Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive",UMLS ID:C2750035,,,,,"Emery-Dreifuss muscular dystrophy 3, autosomal recessive",MONDO:0014676,,MeSH ID:C567633,,,,OMIM ID:616516 +BMGC_DS13259,BMG_DS044184,"Hypokalemic Periodic Paralysis, Type 2",UMLS ID:C2750061,,,,,"hypokalemic periodic paralysis, type 2",MONDO:0013234,,MeSH ID:C567635,,,,OMIM ID:613345 +BMGC_DS13260,BMG_DS044185,Leber Congenital Amaurosis 14,UMLS ID:C2750063,,,,,Leber congenital amaurosis 14,MONDO:0013231,,MeSH ID:C567636,Leber congenital amaurosis 14,DOID:0110188,,OMIM ID:613341 +BMGC_DS13261,BMG_DS044186,"Retinal Dystrophy, Early-Onset Severe, Lrat-Related",UMLS ID:C2750064,,,,,,,,MeSH ID:C567636,Leber congenital amaurosis 14,DOID:0110188,, +BMGC_DS13262,BMG_DS044187,"RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",UMLS ID:C2750065,,,,,,,,,,,,OMIM ID:613341 | OMIM ID:604863 +BMGC_DS13263,BMG_DS044188,Spondylo-Megaepiphyseal-Metaphyseal Dysplasia,UMLS ID:C2750066,,,,,spondylo-megaepiphyseal-metaphyseal dysplasia,MONDO:0013228,,MeSH ID:C567639,,,,OMIM ID:613330 +BMGC_DS13264,BMG_DS044189,Plasminogen Activator Inhibitor-1 Deficiency,UMLS ID:C2750067,,,,,congenital plasminogen activator inhibitor type 1 deficiency,MONDO:0013227,,MeSH ID:C567640,,,,OMIM ID:613329 +BMGC_DS13265,BMG_DS044190,Roifman-Chitayat Syndrome,UMLS ID:C2750068,,,,,combined immunodeficiency with faciooculoskeletal anomalies,MONDO:0013226,,MeSH ID:C567641,,,,OMIM ID:613328 +BMGC_DS13266,BMG_DS044191,"Lipodystrophy, Congenital Generalized, Type 4",UMLS ID:C2750069,,,,,congenital generalized lipodystrophy type 4,MONDO:0013225,,MeSH ID:C567642,,,,OMIM ID:613327 +BMGC_DS13267,BMG_DS044192,Rhabdoid Tumor Predisposition Syndrome 2,UMLS ID:C2750074,,,,,rhabdoid tumor predisposition syndrome 2,MONDO:0013224,,MeSH ID:C567643,,,,OMIM ID:613325 +BMGC_DS13268,BMG_DS044193,"Chondrodysplasia, Megarbane-Dagher-Melki Type",UMLS ID:C2750075,,,,,"autosomal recessive spondylometaphyseal dysplasia, Megarbane type",MONDO:0013223,,MeSH ID:C567644,,,,OMIM ID:613320 +BMGC_DS13269,BMG_DS044194,Miyoshi Muscular Dystrophy 3,UMLS ID:C2750076,,,,,Miyoshi muscular dystrophy 3,MONDO:0013222,,MeSH ID:C567645,Miyoshi muscular dystrophy 3,DOID:0070201,,OMIM ID:613319 +BMGC_DS13270,BMG_DS044195,Miyoshi Muscular Dystrophy 2,UMLS ID:C2750077,,,,,Miyoshi muscular dystrophy 2,MONDO:0013221,,MeSH ID:C567646,Miyoshi muscular dystrophy 2,DOID:0070200,,OMIM ID:613318 +BMGC_DS13271,BMG_DS044196,"Hypophosphatemic Rickets, Autosomal Recessive, 2",UMLS ID:C2750078,,,,,"hypophosphatemic rickets, autosomal recessive, 2",MONDO:0013219,,MeSH ID:C567647,,,,OMIM ID:613312 +BMGC_DS13272,BMG_DS044197,Exudative Vitreoretinopathy 5,UMLS ID:C2750079,,,,,exudative vitreoretinopathy 5,MONDO:0013218,,MeSH ID:C567648,exudative vitreoretinopathy 5,DOID:0111408,,OMIM ID:613310 +BMGC_DS13273,BMG_DS044198,Diamond-Blackfan Anemia 10,UMLS ID:C2750080,,,,,Diamond-Blackfan anemia 10,MONDO:0013217,,MeSH ID:C567649,Diamond-Blackfan anemia 10,DOID:0111888,,OMIM ID:613309 +BMGC_DS13274,BMG_DS044199,Diamond-Blackfan Anemia 9,UMLS ID:C2750081,,,,,Diamond-Blackfan anemia 9,MONDO:0013216,,MeSH ID:C567650,Diamond-Blackfan anemia 9,DOID:0111884,,OMIM ID:613308 +BMGC_DS13275,BMG_DS044200,"Deafness, Autosomal Recessive 79",UMLS ID:C2750082,,,,,autosomal recessive nonsyndromic hearing loss 79,MONDO:0013215,,MeSH ID:C567651,,,,OMIM ID:613307 +BMGC_DS13276,BMG_DS044201,"Bile Acid Malabsorption, Primary",UMLS ID:C2750087,,,,,,,,MeSH ID:C567652,,,, +BMGC_DS13277,BMG_DS044203,"Charcot-Marie-Tooth Disease, Axonal, Type 2n",UMLS ID:C2750090,,,,,Charcot-Marie-Tooth disease axonal type 2N,MONDO:0013212,,MeSH ID:C567653,,,,OMIM ID:613287 +BMGC_DS13278,BMG_DS044204,"Cardiomyopathy, Dilated, 1FF",UMLS ID:C2750091,,,,,dilated cardiomyopathy 1FF,MONDO:0013211,,MeSH ID:C567654,,,,OMIM ID:613286 +BMGC_DS13279,BMG_DS044205,,UMLS ID:C2750180,,,,,"herpes simplex encephalitis, susceptibility to, 1",MONDO:0024563,,,,,,OMIM ID:610551 +BMGC_DS13280,BMG_DS044206,Karak Syndrome,UMLS ID:C2750220,,,,,,,,MeSH ID:C548029,,,, +BMGC_DS13281,BMG_DS044207,"CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2",UMLS ID:C2750234,,,,,"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2",MONDO:0012430,,,"cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2",DOID:0070557,,OMIM ID:610185 | OMIM ID:614218 +BMGC_DS13282,BMG_DS044208,Pitt-Hopkins-Like Syndrome 1,UMLS ID:C2750246,,,,,cortical dysplasia-focal epilepsy syndrome,MONDO:0012400,,MeSH ID:C567657,cortical dysplasia-focal epilepsy syndrome,DOID:0090130,,OMIM ID:610042 +BMGC_DS13283,BMG_DS044210,"Progeria Syndrome, Childhood-Onset",UMLS ID:C2750285,,,,,,,,MeSH ID:C567661,,,, +BMGC_DS13284,BMG_DS044211,Oculootodental syndrome,UMLS ID:C2750325,Oculootodental syndrome | Oculootodental syndrome (disorder),SNOMEDCT ID:770944002,,,oculootodental syndrome,MONDO:0020494,,,,,, +BMGC_DS13285,BMG_DS044212,Omodysplasia 2,UMLS ID:C2750355,Autosomal dominant omodysplasia (disorder) | Autosomal dominant omodysplasia | Omodysplasia 2,SNOMEDCT ID:725165009,,,autosomal dominant omodysplasia,MONDO:0008123,,MeSH ID:C567664,omodysplasia 2,DOID:0080845,,OMIM ID:164745 +BMGC_DS13286,BMG_DS044213,"Fibrosis of Extraocular Muscles, Congenital, 3C",UMLS ID:C2750404,,,,,"fibrosis of extraocular muscles, congenital, 3c",MONDO:0012262,,MeSH ID:C567666,,,,OMIM ID:609384 +BMGC_DS13287,BMG_DS044214,"Cap Myopathy, Tpm2-Related",UMLS ID:C2750413,,,,,,,,MeSH ID:C538351,nemaline myopathy 4,DOID:0110932,, +BMGC_DS13288,BMG_DS044215,"Cap Myopathy, Tpm3-Related",UMLS ID:C2750414,,,,,,,,MeSH ID:C538348,nemaline myopathy 1,DOID:0110926,, +BMGC_DS13289,BMG_DS044216,Bifid Nose With Or Without Anorectal And Renal Anomalies,UMLS ID:C2750433,,,,,BNAR syndrome,MONDO:0012165,,MeSH ID:C567672,,,,OMIM ID:608980 +BMGC_DS13290,BMG_DS044217,,UMLS ID:C2750440,,,,,NAFLD1,MONDO:0021105,,,,,,OMIM ID:613282 +BMGC_DS13291,BMG_DS044218,Hypermanganesemia with Dystonia Polycythemia and Cirrhosis,UMLS ID:C2750442,,,,,cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome,MONDO:0013208,,MeSH ID:C548016,,,,OMIM ID:613280 +BMGC_DS13292,BMG_DS044220,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",UMLS ID:C2750448,,,,,"corneal dystrophy, Fuchs endothelial, 6",MONDO:0013206,,,,,,OMIM ID:189909 | OMIM ID:613270 +BMGC_DS13293,BMG_DS044222,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",UMLS ID:C2750450,,,,,"corneal dystrophy, Fuchs endothelial, 4",MONDO:0013204,,,,,,OMIM ID:610206 | OMIM ID:613268 +BMGC_DS13294,BMG_DS044223,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",UMLS ID:C2750451,,,,,"corneal dystrophy, Fuchs endothelial, 3",MONDO:0013203,,,,,,OMIM ID:613267 | OMIM ID:602272 +BMGC_DS13295,BMG_DS044224,"Waardenburg Syndrome, Type 4c",UMLS ID:C2750452,,,,,Waardenburg syndrome type 4C,MONDO:0013202,,MeSH ID:C567679,,,,OMIM ID:613266 +BMGC_DS13296,BMG_DS044225,"Waardenburg Syndrome, Type 4b",UMLS ID:C2750457,,,,,Waardenburg syndrome type 4B,MONDO:0013201,,MeSH ID:C567680,,,,OMIM ID:613265 +BMGC_DS13297,BMG_DS044226,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",UMLS ID:C2750459,,,,,hypertrophic cardiomyopathy 15,MONDO:0013200,,,hypertrophic cardiomyopathy 15,DOID:0110321,,OMIM ID:193065 | OMIM ID:613255 +BMGC_DS13298,BMG_DS044227,"Cardiomyopathy, Dilated, 1EE",UMLS ID:C2750466,,,,,dilated cardiomyopathy 1EE,MONDO:0013198,,MeSH ID:C567683,,,,OMIM ID:613252 +BMGC_DS13299,BMG_DS044228,"Cardiomyopathy, Familial Hypertrophic, 14",UMLS ID:C2750467,,,,,hypertrophic cardiomyopathy 14,MONDO:0013197,,MeSH ID:C567684,,,,OMIM ID:613251 +BMGC_DS13300,BMG_DS044229,"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8",UMLS ID:C2750471,,,,,Lynch syndrome 8,MONDO:0013196,,,hereditary nonpolyposis colorectal cancer type 8,DOID:0070270,,OMIM ID:613244 +BMGC_DS13301,BMG_DS044230,"Cardiomyopathy, Familial Hypertrophic, 13",UMLS ID:C2750472,,,,,hypertrophic cardiomyopathy 13,MONDO:0013195,,MeSH ID:C567686,,,,OMIM ID:613243 +BMGC_DS13302,BMG_DS044231,,UMLS ID:C2750473,,,,,"thyrotoxic periodic paralysis, susceptibility to, 2",MONDO:0013193,,,,,,OMIM ID:613239 +BMGC_DS13303,BMG_DS044233,Focal Segmental Glomerulosclerosis 5,UMLS ID:C2750475,,,,,focal segmental glomerulosclerosis 5,MONDO:0013191,,MeSH ID:C567687,focal segmental glomerulosclerosis 5,DOID:0111130,,OMIM ID:613237 +BMGC_DS13304,BMG_DS044234,,UMLS ID:C2750481,,,,,"factor XIII, b subunit, deficiency of",MONDO:0013190,,,,,,OMIM ID:613235 +BMGC_DS13305,BMG_DS044235,"Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",UMLS ID:C2750509,,,,,"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3",MONDO:0013188,,MeSH ID:C567690,autosomal recessive spinocerebellar ataxia 34,DOID:0070558,,OMIM ID:613227 +BMGC_DS13306,BMG_DS044236,"Factor Xiii, A Subunit, Deficiency Of",UMLS ID:C2750514,,,,,"factor XIII, A subunit, deficiency of",MONDO:0013187,,MeSH ID:C567691,,,,OMIM ID:613225 +BMGC_DS13307,BMG_DS044237,,UMLS ID:C2750548,,,,,"nasopharyngeal carcinoma, susceptibility to, 2",MONDO:0008067,,,,,,OMIM ID:161550 +BMGC_DS13308,BMG_DS044238,Cone-Rod Dystrophy 13,UMLS ID:C2750720,,,,,cone-rod dystrophy 13,MONDO:0011987,,MeSH ID:C567698,cone-rod dystrophy 13,DOID:0111016,,OMIM ID:608194 +BMGC_DS13309,BMG_DS044239,"Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",UMLS ID:C2750729,,,,,,,,MeSH ID:C567699,,,, +BMGC_DS13310,BMG_DS044240,Noonan Syndrome 6,UMLS ID:C2750732,,,,,Noonan syndrome 6,MONDO:0013186,,MeSH ID:C548084,Noonan syndrome 6,DOID:0060584,,OMIM ID:613224 +BMGC_DS13311,BMG_DS044241,,UMLS ID:C2750733,,,,,"leprosy, susceptibility to, 5",MONDO:0013185,,,,,,OMIM ID:613223 +BMGC_DS13312,BMG_DS044242,"DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",UMLS ID:C2750737,,,,,congenital diarrhea 5 with tufting enteropathy,MONDO:0013184,,,,,,OMIM ID:613217 | OMIM ID:185535 +BMGC_DS13313,BMG_DS044244,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C",UMLS ID:C2750747,,,,,congenital stationary night blindness 1C,MONDO:0013183,,,congenital stationary night blindness 1C,DOID:0110867,,OMIM ID:613216 | OMIM ID:603576 +BMGC_DS13314,BMG_DS044246,"Amelogenesis Imperfecta, Hypomaturation Type, Iia3",UMLS ID:C2750771,,,,,amelogenesis imperfecta hypomaturation type 2A3,MONDO:0013181,,MeSH ID:C567706,,,,OMIM ID:613211 +BMGC_DS13315,BMG_DS044248,"Spastic Paraplegia 44, Autosomal Recessive",UMLS ID:C2750784,,,,,hereditary spastic paraplegia 44,MONDO:0013179,,MeSH ID:C567707,,,,OMIM ID:613206 +BMGC_DS13316,BMG_DS044249,"Muscular Dystrophy, Congenital, Lmna-Related",UMLS ID:C2750785,,,,,congenital muscular dystrophy due to LMNA mutation,MONDO:0013178,,MeSH ID:C567708,,,,OMIM ID:613205 +BMGC_DS13317,BMG_DS044250,"Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency",UMLS ID:C2750786,,,,,congenital muscular dystrophy due to integrin alpha-7 deficiency,MONDO:0013177,,MeSH ID:C567709,,,,OMIM ID:613204 +BMGC_DS13318,BMG_DS044251,Weill-Marchesani-Like Syndrome,UMLS ID:C2750787,,,,,"Weill-Marchesani 4 syndrome, recessive",MONDO:0013176,,MeSH ID:C567710,,,,OMIM ID:613195 +BMGC_DS13319,BMG_DS044252,"Retinitis Pigmentosa, Concentric",UMLS ID:C2750789,,,,,retinitis pigmentosa 50,MONDO:0013175,,MeSH ID:C567712,,,,OMIM ID:613194 +BMGC_DS13320,BMG_DS044253,"CILIARY DYSKINESIA, PRIMARY, 13",UMLS ID:C2750790,,,,,primary ciliary dyskinesia 13,MONDO:0013174,,,,,,OMIM ID:613193 | OMIM ID:613190 +BMGC_DS13321,BMG_DS044254,,UMLS ID:C2750791,,,,,"intellectual disability, autosomal recessive 13",MONDO:0013173,,,,,,OMIM ID:613192 +BMGC_DS13322,BMG_DS044255,Polymicrogyria With Optic Nerve Hypoplasia,UMLS ID:C2750798,,,,,polymicrogyria with optic nerve hypoplasia,MONDO:0013172,,MeSH ID:C567715,,,,OMIM ID:613180 +BMGC_DS13323,BMG_DS044256,"Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities",UMLS ID:C2750804,,,,,"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",MONDO:0013170,,MeSH ID:C567716,autosomal recessive cutis laxa type IC,DOID:0070139,,OMIM ID:613177 +BMGC_DS13324,BMG_DS044257,Chromosome 5p13 Duplication Syndrome,UMLS ID:C2750805,,,,,chromosome 5p13 duplication syndrome,MONDO:0013169,,MeSH ID:C567717,chromosome 5p13 duplication syndrome,DOID:0060460,,OMIM ID:613174 +BMGC_DS13325,BMG_DS044258,Marie Unna Hereditary Hypotrichosis 1,UMLS ID:C2750815,,,,,hypotrichosis 4,MONDO:0100522,,MeSH ID:C567718,,,,OMIM ID:146550 +BMGC_DS13326,BMG_DS044259,Dystransthyretinemic Euthyroidal Hyperthyroxinemia,UMLS ID:C2750824,,,,,"hyperthyroxinemia, dystransthyretinemic",MONDO:0007785,,MeSH ID:C567719,,,,OMIM ID:145680 +BMGC_DS13327,BMG_DS044260,,UMLS ID:C2750850,,,,,glioma susceptibility 1,MONDO:0024498,,,,,,OMIM ID:137800 +BMGC_DS13328,BMG_DS044261,,UMLS ID:C2750887,,,,,"epilepsy, idiopathic generalized, susceptibility to, 9",MONDO:0011892,,,,,,OMIM ID:607682 +BMGC_DS13329,BMG_DS044262,,UMLS ID:C2750888,,,,,"epilepsy, juvenile myoclonic, susceptibility to, 6",MONDO:0800271,,,,,, +BMGC_DS13330,BMG_DS044263,,UMLS ID:C2750892,,,,,"epilepsy, juvenile absence, susceptibility to, 1",MONDO:0020772,,,,,,OMIM ID:607631 +BMGC_DS13331,BMG_DS044264,,UMLS ID:C2750893,,,,,"epilepsy, idiopathic generalized, susceptibility to, 11",MONDO:0011875,,,,,,OMIM ID:607628 +BMGC_DS13332,BMG_DS044266,"Cardiomyopathy, Dilated, 1DD",UMLS ID:C2750995,,,,,dilated cardiomyopathy 1DD,MONDO:0013168,,MeSH ID:C567725,,,,OMIM ID:613172 +BMGC_DS13333,BMG_DS044268,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4",UMLS ID:C2751052,,,,,"muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4",MONDO:0013156,,,muscular dystrophy-dystroglycanopathy type B4,DOID:0112379,,OMIM ID:613152 | OMIM ID:607440 +BMGC_DS13334,BMG_DS044269,"INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE",UMLS ID:C2751053,,,,,inflammatory bowel disease 28,MONDO:0013153,,,inflammatory bowel disease 28,DOID:0110899,,OMIM ID:613148 +BMGC_DS13335,BMG_DS044271,"Choroidal Dystrophy, Central Areolar 3",UMLS ID:C2751055,,,,,"choroidal dystrophy, central areolar, 3",MONDO:0013151,,MeSH ID:C567729,,,,OMIM ID:613144 +BMGC_DS13336,BMG_DS044272,"Parkinsonism-Dystonia, Infantile",UMLS ID:C2751067,,,,,"parkinsonism-dystonia, infantile",MONDO:0013150,,MeSH ID:C567730,classic dopamine transporter deficiency syndrome,DOID:0070489,, +BMGC_DS13337,BMG_DS044274,Brugada Syndrome 8,UMLS ID:C2751083,,,,,Brugada syndrome 8,MONDO:0013148,,MeSH ID:C567732,Brugada syndrome 8,DOID:0110225,,OMIM ID:613123 +BMGC_DS13338,BMG_DS044275,"Cardiomyopathy, Dilated, 1CC",UMLS ID:C2751084,,,,,dilated cardiomyopathy 1CC,MONDO:0013147,,MeSH ID:C567733,,,,OMIM ID:613122 +BMGC_DS13339,BMG_DS044276,Brugada Syndrome 7,UMLS ID:C2751088,,,,,Brugada syndrome 7,MONDO:0013146,,MeSH ID:C567734,Brugada syndrome 7,DOID:0110224,,OMIM ID:613120 +BMGC_DS13340,BMG_DS044277,Brugada Syndrome 6,UMLS ID:C2751089,,,,,Brugada syndrome 6,MONDO:0013145,,MeSH ID:C567735,Brugada syndrome 6,DOID:0110223,,OMIM ID:613119 +BMGC_DS13341,BMG_DS044278,Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency,UMLS ID:C2751090,,,,,hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,MONDO:0013143,,MeSH ID:C567737,thrombophilia due to HRG deficiency,DOID:0111903,,OMIM ID:613116 +BMGC_DS13342,BMG_DS044279,Thrombophilia Due To Elevated Histidine-Rich Glycoprotein,UMLS ID:C2751091,,,,,,,,MeSH ID:C567737,,,, +BMGC_DS13343,BMG_DS044280,"Neuropathy, Hereditary Sensory And Autonomic, Type IIB",UMLS ID:C2751092,,,,,"neuropathy, hereditary sensory and autonomic, type 2B",MONDO:0013142,,MeSH ID:C567738,,,,OMIM ID:613115 +BMGC_DS13344,BMG_DS044281,"Fibrosis of Extraocular Muscles, Congenital, 3B",UMLS ID:C2751105,,,,,"fibrosis of extraocular muscles, congenital, 3b",MONDO:0800209,,MeSH ID:C567739,,,, +BMGC_DS13345,BMG_DS044284,"Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related",UMLS ID:C2751259,,,,,,,,MeSH ID:C567747,,,, +BMGC_DS13346,BMG_DS044285,Macrothrombocytopenia,UMLS ID:C2751260,,,,,,,,,,,,OMIM ID:MTHU024610 +BMGC_DS13347,BMG_DS044286,"Neutropenia, Severe Congenital, Autosomal Dominant 2",UMLS ID:C2751288,,,,,"neutropenia, severe congenital, 2, autosomal dominant",MONDO:0013139,,MeSH ID:C567748,,,,OMIM ID:613107 +BMGC_DS13348,BMG_DS044288,"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2",UMLS ID:C2751290,,,,,"choroidal dystrophy, central areolar 2",MONDO:0013137,,,,,,OMIM ID:613105 +BMGC_DS13349,BMG_DS044289,Hypotrichosis And Recurrent Skin Vesicles,UMLS ID:C2751292,,,,,hereditary hypotrichosis with recurrent skin vesicles,MONDO:0013136,,MeSH ID:C567751,,,,OMIM ID:613102 +BMGC_DS13350,BMG_DS044290,,UMLS ID:C2751293,,,,,familial hemophagocytic lymphohistiocytosis 5,MONDO:0013135,,,,,,OMIM ID:613101 +BMGC_DS13351,BMG_DS044291,"GLAUCOMA 1, OPEN ANGLE, O",UMLS ID:C2751294,,,,,"glaucoma 1, open angle, O",MONDO:0013134,,,,,,OMIM ID:162662 | OMIM ID:613100 +BMGC_DS13352,BMG_DS044292,,UMLS ID:C2751295,,,,,"melanoma, cutaneous malignant, susceptibility to, 5",MONDO:0013133,,,,,,OMIM ID:613099 +BMGC_DS13353,BMG_DS044293,"INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC",UMLS ID:C2751296,,,,,,,,,,,,OMIM ID:155555 | OMIM ID:613098 +BMGC_DS13354,BMG_DS044294,"Tooth Agenesis, Selective, 6",UMLS ID:C2751297,,,,,,,,MeSH ID:C567755,,,, +BMGC_DS13355,BMG_DS044295,,UMLS ID:C2751306,,,,,polycystic kidney disease 2,MONDO:0013131,,,,,,OMIM ID:613095 +BMGC_DS13356,BMG_DS044296,"Microphthalmia, Isolated 4",UMLS ID:C2751307,,,,,isolated microphthalmia 4,MONDO:0013130,,MeSH ID:C567757,,,,OMIM ID:613094 +BMGC_DS13357,BMG_DS044297,Cone Dystrophy 4,UMLS ID:C2751308,,,,,cone dystrophy 4,MONDO:0013129,,MeSH ID:C567758,,,,OMIM ID:613093 +BMGC_DS13358,BMG_DS044298,Achromatopsia 5,UMLS ID:C2751309,,,,,achromatopsia 5,MONDO:0800196,,MeSH ID:C567759,,,, +BMGC_DS13359,BMG_DS044299,"Hyperuricemic Nephropathy, Familial Juvenile 2",UMLS ID:C2751310,,,,,familial juvenile hyperuricemic nephropathy type 2,MONDO:0013128,,MeSH ID:C567760,,,,OMIM ID:613092 +BMGC_DS13360,BMG_DS044301,CLAPO Syndrome,UMLS ID:C2751313,,,,,CLAPO syndrome,MONDO:0013125,,MeSH ID:C567763,,,,OMIM ID:613089 +BMGC_DS13361,BMG_DS044303,,UMLS ID:C2751315,,,,,atrial septal defect 6,MONDO:0013123,,,,,,OMIM ID:613087 +BMGC_DS13362,BMG_DS044304,"Glaucoma 3, Primary Congenital, D",UMLS ID:C2751316,,,,,"glaucoma 3, primary congenital, D",MONDO:0013122,,MeSH ID:C567765,,,,OMIM ID:613086 +BMGC_DS13363,BMG_DS044305,"46, XY Sex Reversal 5",UMLS ID:C2751317,,,,,"46,XY sex reversal 5",MONDO:0013120,,MeSH ID:C567766,"46,XY sex reversal 5",DOID:0111776,,OMIM ID:613080 +BMGC_DS13364,BMG_DS044306,Nijmegen Breakage Syndrome-Like Disorder,UMLS ID:C2751318,,,,,Nijmegen breakage syndrome-like disorder,MONDO:0013118,,MeSH ID:C567767,,,,OMIM ID:613078 +BMGC_DS13365,BMG_DS044307,"Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",UMLS ID:C2751319,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5",MONDO:0013117,,MeSH ID:C567768,,,,OMIM ID:613077 +BMGC_DS13366,BMG_DS044308,"Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay",UMLS ID:C2751320,,,,,congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,MONDO:0013116,,MeSH ID:C567769,,,,OMIM ID:613076 +BMGC_DS13367,BMG_DS044309,"Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",UMLS ID:C2751321,,,,,RIN2 syndrome,MONDO:0013115,,MeSH ID:C567770,,,,OMIM ID:613075 +BMGC_DS13368,BMG_DS044310,Metaphyseal Anadysplasia 2,UMLS ID:C2751322,,,,,metaphyseal anadysplasia 2,MONDO:0013113,,MeSH ID:C567771,,,,OMIM ID:613073 +BMGC_DS13369,BMG_DS044311,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3,UMLS ID:C2751324,,,,,bronchiectasis with or without elevated sweat chloride 3,MONDO:0013112,,,bronchiectasis 3,DOID:0080528,,OMIM ID:600761 | OMIM ID:613071 +BMGC_DS13370,BMG_DS044312,"46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy",UMLS ID:C2751325,,,,,,,,MeSH ID:C567773,,,, +BMGC_DS13371,BMG_DS044313,"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN",UMLS ID:C2751329,,,,,,,,,,,,OMIM ID:606963 +BMGC_DS13372,BMG_DS044314,,UMLS ID:C2751427,,,,,"cardiomyopathy, familial hypertrophic, 4, susceptibility to",MONDO:0800421,,,,,, +BMGC_DS13373,BMG_DS044315,"CANDIDIASIS, FAMILIAL, 1",UMLS ID:C2751429,,,,,"candidiasis, familial, 1",MONDO:0007257,,,,,,OMIM ID:114580 +BMGC_DS13374,BMG_DS044316,Camptodactyly 1,UMLS ID:C2751430,,,,,camptodactyly of fingers,MONDO:0007250,,MeSH ID:C567780,,,,OMIM ID:114200 +BMGC_DS13375,BMG_DS044317,"Bifid Nose, Autosomal Dominant",UMLS ID:C2751431,,,,,"bifid nose, autosomal dominant",MONDO:0007195,,MeSH ID:C535441,,,,OMIM ID:109740 +BMGC_DS13376,BMG_DS044318,,UMLS ID:C2751492,,,,,"amyloidosis, hereditary systemic 1",MONDO:0971004,,,,,,OMIM ID:105210 +BMGC_DS13377,BMG_DS044319,"Cerebral Amyloid Angiopathy, Gsn-Related",UMLS ID:C2751493,,,,,,,,MeSH ID:C537459,,,, +BMGC_DS13378,BMG_DS044320,"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",UMLS ID:C2751494,,,,,"ABeta amyloidosis, Arctic type",MONDO:0017949,,,APP-related cerebral amyloid angiopathy,DOID:0070028,,OMIM ID:104760 | OMIM ID:605714 +BMGC_DS13379,BMG_DS044321,3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency,UMLS ID:C2751532,,,,,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,MONDO:0011614,,MeSH ID:C567784,,,,OMIM ID:605911 +BMGC_DS13380,BMG_DS044322,"Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet",UMLS ID:C2751535,,,,,platelet-type bleeding disorder 12,MONDO:0011588,,MeSH ID:C567786,,,,OMIM ID:605735 +BMGC_DS13381,BMG_DS044323,"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",UMLS ID:C2751536,,,,,"cerebral amyloid angiopathy, APP-related",MONDO:0011583,,,APP-related cerebral amyloid angiopathy,DOID:0070028,,OMIM ID:605714 +BMGC_DS13382,BMG_DS044324,,UMLS ID:C2751544,,,,,"basal cell carcinoma, susceptibility to, 1",MONDO:0011556,,,,,,OMIM ID:605462 +BMGC_DS13383,BMG_DS044325,Neurodegeneration Due To Cerebral Folate Transport Deficiency,UMLS ID:C2751584,,,,,neurodegenerative syndrome due to cerebral folate transport deficiency,MONDO:0013110,,MeSH ID:C567791,,,,OMIM ID:613068 +BMGC_DS13384,BMG_DS044326,,UMLS ID:C2751593,,,,,"leukemia, acute lymphocytic, susceptibility to, 2",MONDO:0013109,,,,,,OMIM ID:613067 +BMGC_DS13385,BMG_DS044327,,UMLS ID:C2751595,,,,,"leukemia, acute lymphocytic, susceptibility to, 1",MONDO:0013108,,,,,,OMIM ID:613065 +BMGC_DS13386,BMG_DS044332,,UMLS ID:C2751603,,,,,"epilepsy, idiopathic generalized, susceptibility to, 10",MONDO:0013103,,,,,,OMIM ID:613060 +BMGC_DS13387,BMG_DS044335,"Atrial Fibrillation, Familial, 8",UMLS ID:C2751607,,,,,"atrial fibrillation, familial, 8",MONDO:0013100,,MeSH ID:C567802,,,,OMIM ID:613055 +BMGC_DS13388,BMG_DS044336,"Pituitary Hormone Deficiency, Combined, 1",UMLS ID:C2751608,,,,,"pituitary hormone deficiency, combined, 1",MONDO:0024464,,MeSH ID:C567803,,,,OMIM ID:613038 +BMGC_DS13389,BMG_DS044338,Dursun Syndrome,UMLS ID:C2751630,,,,,autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,MONDO:0012930,,MeSH ID:C567260,,,,OMIM ID:612541 +BMGC_DS13390,BMG_DS044343,,UMLS ID:C2751641,,,,,glioma susceptibility 3,MONDO:0013093,,,,,,OMIM ID:613029 +BMGC_DS13391,BMG_DS044344,,UMLS ID:C2751642,,,,,glioma susceptibility 2,MONDO:0013092,,,,,,OMIM ID:613028 +BMGC_DS13392,BMG_DS044345,Glycogen Storage Disease IXC,UMLS ID:C2751643,,,,,glycogen storage disease IXc,MONDO:0013091,,MeSH ID:C567809,glycogen storage disease IXc,DOID:0111043,,OMIM ID:613027 +BMGC_DS13393,BMG_DS044348,SCHIZOPHRENIA 13,UMLS ID:C2751663,,,,,schizophrenia 13,MONDO:0013089,,,schizophrenia 13,DOID:0070089,,OMIM ID:613025 +BMGC_DS13394,BMG_DS044349,,UMLS ID:C2751665,,,,,"follicular lymphoma, susceptibility to, 1",MONDO:0013088,,,,,,OMIM ID:613024 +BMGC_DS13395,BMG_DS044350,BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2,UMLS ID:C2751666,,,,,bronchiectasis with or without elevated sweat chloride 2,MONDO:0013087,,,bronchiectasis 2,DOID:0080527,,OMIM ID:600228 | OMIM ID:613021 +BMGC_DS13396,BMG_DS044354,,UMLS ID:C2751681,,,,,"neuroblastoma, susceptibility to, 3",MONDO:0013083,,,,,,OMIM ID:613014 +BMGC_DS13397,BMG_DS044355,,UMLS ID:C2751682,,,,,"neuroblastoma, susceptibility to, 2",MONDO:0700041,,,,,,OMIM ID:613013 +BMGC_DS13398,BMG_DS044357,"Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",UMLS ID:C2751686,,,,,,,,MeSH ID:C567815,,,, +BMGC_DS13399,BMG_DS044361,Santos Syndrome,UMLS ID:C2751698,,,,,Santos syndrome,MONDO:0013077,,MeSH ID:C567819,,,,OMIM ID:613005 +BMGC_DS13400,BMG_DS044362,,UMLS ID:C2751729,,,,,"epilepsy, idiopathic generalized, susceptibility to, 7",MONDO:0011491,,,,,,OMIM ID:604827 +BMGC_DS13401,BMG_DS044363,"Febrile Convulsions, Familial, 3a",UMLS ID:C2751756,,,,,"febrile seizures, familial, 3a",MONDO:0800329,,MeSH ID:C567820,,,, +BMGC_DS13402,BMG_DS044364,"Retinitis Pigmentosa, Juvenile, Aipl1-Related",UMLS ID:C2751763,,,,,,,,MeSH ID:C565778,Leber congenital amaurosis 4,DOID:0110332,, +BMGC_DS13403,BMG_DS044365,"Cone-Rod Dystrophy, Aipl1-Related",UMLS ID:C2751764,,,,,,,,MeSH ID:C565778,Leber congenital amaurosis 4,DOID:0110332,, +BMGC_DS13404,BMG_DS044366,"Generalized Epilepsy With Febrile Seizures Plus, 7",UMLS ID:C2751778,,,,,"generalized epilepsy with febrile seizures plus, type 7",MONDO:0013470,,MeSH ID:C567827,generalized epilepsy with febrile seizures plus 7,DOID:0111295,,OMIM ID:613863 +BMGC_DS13405,BMG_DS044367,"Retinitis Pigmentosa, Juvenile, SPATA7-Related",UMLS ID:C2751780,,,,,,,,MeSH ID:C565814,Leber congenital amaurosis 3,DOID:0110331,, +BMGC_DS13406,BMG_DS044368,,UMLS ID:C2751802,,,,,"attention deficit-hyperactivity disorder, susceptibility to, 7",MONDO:0013076,,,,,,OMIM ID:613003 +BMGC_DS13407,BMG_DS044369,"IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS",UMLS ID:C2751803,,,,,"immunodeficiency 83, susceptibility to viral infections",MONDO:0800187,,,,,,OMIM ID:613002 | OMIM ID:603029 +BMGC_DS13408,BMG_DS044370,"EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT",UMLS ID:C2751805,,,,,"Emery-Dreifuss muscular dystrophy 5, autosomal dominant",MONDO:0013072,,,autosomal dominant Emery-Dreifuss muscular dystrophy 5,DOID:0070250,,OMIM ID:612999 +BMGC_DS13409,BMG_DS044371,Emery-Dreifuss Muscular Dystrophy 4,UMLS ID:C2751807,,,,,"Emery-Dreifuss muscular dystrophy 4, autosomal dominant",MONDO:0013071,,MeSH ID:C567831,,,,OMIM ID:612998 +BMGC_DS13410,BMG_DS044372,Spermatogenic Failure 7,UMLS ID:C2751811,,,,,spermatogenic failure 7,MONDO:0013070,,MeSH ID:C567832,spermatogenic failure 7,DOID:0070173,,OMIM ID:612997 +BMGC_DS13411,BMG_DS044373,Optic Atrophy 7,UMLS ID:C2751812,,,,,"autosomal recessive optic atrophy, OPA7 type",MONDO:0013069,,MeSH ID:C567833,optic atrophy 7,DOID:0111437,,OMIM ID:612989 +BMGC_DS13412,BMG_DS044375,"Cataract, Autosomal Recessive Congenital 3",UMLS ID:C2751822,,,,,cataract 34 multiple types,MONDO:0013067,,MeSH ID:C567835,,,,OMIM ID:612968 +BMGC_DS13413,BMG_DS044376,"46, XY Disorders of Sex Development",UMLS ID:C2751824,,,,,"46,XY disorder of sex development",MONDO:0020040,"Disorder of Sex Development, 46,XY",MeSH ID:D058490,,,, +BMGC_DS13414,BMG_DS044377,Premature Ovarian Failure 7,UMLS ID:C2751825,,,,,premature ovarian failure 7,MONDO:0013065,,MeSH ID:C567838,,,,OMIM ID:612964 +BMGC_DS13415,BMG_DS044378,Multiple Synostoses Syndrome 3,UMLS ID:C2751826,,,,,multiple synostoses syndrome 3,MONDO:0013064,,MeSH ID:C567839,,,,OMIM ID:612961 +BMGC_DS13416,BMG_DS044379,"Ventricular Fibrillation, Paroxysmal Familial, 2",UMLS ID:C2751829,,,,,"ventricular fibrillation, paroxysmal familial, 2",MONDO:0013063,,MeSH ID:C567841,,,,OMIM ID:612956 +BMGC_DS13417,BMG_DS044380,Long Qt Syndrome 12,UMLS ID:C2751830,,,,,long QT syndrome 12,MONDO:0013062,,MeSH ID:C567842,long QT syndrome 12,DOID:0110653,,OMIM ID:612955 +BMGC_DS13418,BMG_DS044381,"Myopathy, Myofibrillar, Bag3-Related",UMLS ID:C2751831,,,,,myofibrillar myopathy 6,MONDO:0013061,,MeSH ID:C567843,,,,OMIM ID:612954 +BMGC_DS13419,BMG_DS044382,"PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",UMLS ID:C2751842,,,,,autosomal recessive Parkinson disease 14,MONDO:0013060,,,,,,OMIM ID:612953 +BMGC_DS13420,BMG_DS044383,"Leukoencephalopathy, Cystic, Without Megalencephaly",UMLS ID:C2751843,,,,,cystic leukoencephalopathy without megalencephaly,MONDO:0013058,,MeSH ID:C567845,,,,OMIM ID:612951 +BMGC_DS13421,BMG_DS044385,"Hypomyelination, Global Cerebral",UMLS ID:C2751855,,,,,"developmental and epileptic encephalopathy, 39",MONDO:0013056,,MeSH ID:C567847,developmental and epileptic encephalopathy 39,DOID:0080349,,OMIM ID:612949 +BMGC_DS13422,BMG_DS044388,Hadziselimovic Syndrome,UMLS ID:C2751878,,,,,"microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",MONDO:0013053,,MeSH ID:C567850,,,,OMIM ID:612946 +BMGC_DS13423,BMG_DS044389,"Ventricular Fibrillation, Paroxysmal Familial, 1",UMLS ID:C2751898,,,,,"ventricular fibrillation, paroxysmal familial, type 1",MONDO:0011376,,MeSH ID:C567851,,,,OMIM ID:603829 +BMGC_DS13424,BMG_DS044391,RETINITIS PIGMENTOSA 42,UMLS ID:C2751986,,,,,retinitis pigmentosa 42,MONDO:0013052,,,,,,OMIM ID:612943 | OMIM ID:611119 +BMGC_DS13425,BMG_DS044392,"Cutis Laxa, Autosomal Recessive, Type IIB",UMLS ID:C2751987,,,,,autosomal recessive cutis laxa type 2B,MONDO:0013051,,MeSH ID:C567855,,,,OMIM ID:612940 +BMGC_DS13426,BMG_DS044393,,UMLS ID:C2752001,,,,,"lethal polymalformative syndrome, Boissel type",MONDO:0013050,,,,,,OMIM ID:612938 +BMGC_DS13427,BMG_DS044394,"Congenital Disorder of Glycosylation, Type Io",UMLS ID:C2752007,,,,,DPM3-congenital disorder of glycosylation,MONDO:0013049,,MeSH ID:C567857,,,,OMIM ID:612937 +BMGC_DS13428,BMG_DS044395,"Spastic Paraplegia-50, Autosomal Recessive",UMLS ID:C2752008,,,,,hereditary spastic paraplegia 50,MONDO:0013048,,MeSH ID:C567858,,,,OMIM ID:612936 +BMGC_DS13429,BMG_DS044396,Glycogen Storage Disease XIV,UMLS ID:C2752015,,,,,PGM1-congenital disorder of glycosylation,MONDO:0013968,,MeSH ID:C567859,,,,OMIM ID:614921 +BMGC_DS13430,BMG_DS044397,Glycogen Storage Disease XIII,UMLS ID:C2752027,,,,,glycogen storage disease due to muscle beta-enolase deficiency,MONDO:0013046,,MeSH ID:C567861,,,,OMIM ID:612932 +BMGC_DS13431,BMG_DS044399,,UMLS ID:C2752036,,,,,atypical hemolytic-uremic syndrome with thrombomodulin anomaly,MONDO:0013044,,,,,,OMIM ID:612926 +BMGC_DS13432,BMG_DS044400,,UMLS ID:C2752037,,,,,atypical hemolytic-uremic syndrome with C3 anomaly,MONDO:0013043,,,,,,OMIM ID:612925 +BMGC_DS13433,BMG_DS044401,,UMLS ID:C2752038,,,,,atypical hemolytic-uremic syndrome with B factor anomaly,MONDO:0013042,,,,,,OMIM ID:612924 +BMGC_DS13434,BMG_DS044402,,UMLS ID:C2752039,,,,,atypical hemolytic-uremic syndrome with I factor anomaly,MONDO:0013041,,,,,,OMIM ID:612923 +BMGC_DS13435,BMG_DS044403,,UMLS ID:C2752040,,,,,atypical hemolytic-uremic syndrome with MCP/CD46 anomaly,MONDO:0013040,,,,,,OMIM ID:612922 +BMGC_DS13436,BMG_DS044404,Three M Syndrome 2,UMLS ID:C2752041,,,,,3M syndrome 2,MONDO:0013039,,MeSH ID:C567862,,,,OMIM ID:612921 +BMGC_DS13437,BMG_DS044405,"Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",UMLS ID:C2752042,,,,,CLOVES syndrome,MONDO:0013038,,MeSH ID:C567863,,,,OMIM ID:612918 +BMGC_DS13438,BMG_DS044406,Giacheti Syndrome,UMLS ID:C2752043,,,,,Giacheti syndrome,MONDO:0013037,,MeSH ID:C567864,,,,OMIM ID:612917 +BMGC_DS13439,BMG_DS044407,Zechi-Ceide Syndrome,UMLS ID:C2752047,,,,,Zechi-Ceide syndrome,MONDO:0013036,,MeSH ID:C567865,,,,OMIM ID:612916 +BMGC_DS13440,BMG_DS044408,Orofaciodigital syndrome 11,UMLS ID:C2752048,,,,,orofaciodigital syndrome XI,MONDO:0013035,,MeSH ID:C557821,orofaciodigital syndrome XI,DOID:0060381,,OMIM ID:612913 +BMGC_DS13441,BMG_DS044410,"Cerebral Palsy, Spastic Quadriplegic, 2",UMLS ID:C2752061,,,,,"cerebral palsy, spastic quadriplegic, 2",MONDO:0013033,,MeSH ID:C567867,,,,OMIM ID:612900 +BMGC_DS13442,BMG_DS044411,,UMLS ID:C2752062,,,,,"epilepsy, idiopathic generalized, susceptibility to, 8",MONDO:0013032,,,,,,OMIM ID:612899 +BMGC_DS13443,BMG_DS044412,"Heterotopia, Periventricular, Associated With Chromosome 5q Deletion",UMLS ID:C2752071,,,,,"chromosome 5Q14.3 deletion syndrome, distal",MONDO:0013031,,MeSH ID:C567876,,,,OMIM ID:612881 +BMGC_DS13444,BMG_DS044413,"Cardiomyopathy, Dilated, 1BB",UMLS ID:C2752072,,,,,dilated cardiomyopathy 1BB,MONDO:0013030,,MeSH ID:C567877,,,,OMIM ID:612877 +BMGC_DS13445,BMG_DS044414,Erythrocyte Amp Deaminase Deficiency,UMLS ID:C2752073,,,,,,,,MeSH ID:C567878,,,, +BMGC_DS13446,BMG_DS044415,ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY,UMLS ID:C2752074,,,,,oxoglutaricaciduria,MONDO:0008759,,,oxoglutarate dehydrogenase deficiency,DOID:0081326,,OMIM ID:203740 +BMGC_DS13447,BMG_DS044416,ALPHA-2-PLASMIN INHIBITOR DEFICIENCY,UMLS ID:C2752081,,,,,alpha-2-plasmin inhibitor deficiency,MONDO:0009883,,,,,,OMIM ID:262850 | OMIM ID:613168 +BMGC_DS13448,BMG_DS044417,"Neuropathy, Hereditary Sensory And Autonomic, Type IIA",UMLS ID:C2752089,,,,,"neuropathy, hereditary sensory and autonomic, type 2A",MONDO:0024309,,MeSH ID:C567738,,,,OMIM ID:201300 +BMGC_DS13449,BMG_DS044418,,UMLS ID:C2752090,,,,,"pelvic organ prolapse, susceptibility to",MONDO:0008313,,,,,,OMIM ID:176780 +BMGC_DS13450,BMG_DS044419,"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C",UMLS ID:C2752147,,,,,xeroderma pigmentosum group C,MONDO:0010211,,,,,,OMIM ID:613208 | OMIM ID:278720 +BMGC_DS13451,BMG_DS044420,,UMLS ID:C2752149,,,,,"46,XY sex reversal 4",MONDO:0007938,,,,,,OMIM ID:154230 +BMGC_DS13452,BMG_DS044421,,UMLS ID:C2752157,,,,,malposition of teeth with or without hypodontia/oligodontia,MONDO:0008581,,,,,,OMIM ID:189490 +BMGC_DS13453,BMG_DS044423,,UMLS ID:C2825139,,,,,,,,,acute myeloid leukemia with myelodysplasia-related changes,DOID:0081092,, +BMGC_DS13454,BMG_DS044424,,UMLS ID:C2825149,,,,,myeloid leukemia associated with down syndrome,MONDO:0850271,,,,,, +BMGC_DS13455,BMG_DS044428,,UMLS ID:C2826048,,,,,mixed phenotype acute leukemia with t(v;11q23.3),MONDO:0035642,,,,,, +BMGC_DS13456,BMG_DS044429,,UMLS ID:C2826169,,,,,,,,,acute myeloid leukemia with t(6;9) (p23;q34.1),DOID:0081080,, +BMGC_DS13457,BMG_DS044430,,UMLS ID:C2826172,,,,,acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),MONDO:0018435,,,acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2),DOID:0081083,, +BMGC_DS13458,BMG_DS044431,,UMLS ID:C2826177,,,,,acute myeloid leukemia with mutated NPM1,MONDO:0044923,,,acute myeloid leukemia with mutated NPM1,DOID:0081089,, +BMGC_DS13459,BMG_DS044439,"SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE",UMLS ID:C2828721,,,,,hereditary spastic paraplegia 46,MONDO:0013737,,,,,,OMIM ID:609471 | OMIM ID:614409 +BMGC_DS13460,BMG_DS044440,"DEAFNESS, AUTOSOMAL RECESSIVE 86",UMLS ID:C2829265,,,,,autosomal recessive nonsyndromic hearing loss 86,MONDO:0013826,,,,,,OMIM ID:613577 | OMIM ID:614617 +BMGC_DS13461,BMG_DS044441,"DEAFNESS, AUTOSOMAL RECESSIVE 88",UMLS ID:C2829267,,,,,autosomal recessive nonsyndromic hearing loss 88,MONDO:0014182,,,,,,OMIM ID:615429 | OMIM ID:615427 +BMGC_DS13462,BMG_DS044476,Infection due to Opisthorchis (felineus)(viverrini),UMLS ID:C2830279,,,Opisthorchiasis,ICD11 ID:1F84,,,,,,,ICD10 ID:B66.0, +BMGC_DS13463,BMG_DS044477,Infection due to cat liver fluke,UMLS ID:C2830280,,,Opisthorchiasis,ICD11 ID:1F84,,,,,,,ICD10 ID:B66.0, +BMGC_DS13464,BMG_DS044573,Adenomatosis of colon,UMLS ID:C2865399,,,"Benign neoplasm of the large intestine, unspecified",ICD11 ID:2E92.4Z,,,,,familial adenomatous polyposis 2,DOID:0080410,ICD10 ID:D12.6, +BMGC_DS13465,BMG_DS044592,Other aplastic anemias and other bone marrow failure syndromes,UMLS ID:C2873777,,,,,,,,,,,ICD10 ID:D61, +BMGC_DS13466,BMG_DS044606,Bernard-Soulier [giant platelet] syndrome,UMLS ID:C2873804,,,"Qualitative platelet defects, unspecified",ICD11 ID:3B62.Z,,,,,platelet-type bleeding disorder 18,DOID:0111051,ICD10 ID:D69.1, +BMGC_DS13467,BMG_DS044607,Thromboasthenia (hemorrhagic) (hereditary),UMLS ID:C2873805,,,"Qualitative platelet defects, unspecified",ICD11 ID:3B62.Z,,,,,platelet-type bleeding disorder 18,DOID:0111051,ICD10 ID:D69.1, +BMGC_DS13468,BMG_DS044610,Cell membrane receptor complex [CR3] defect,UMLS ID:C2873813,,,,,,,,,,,ICD10 ID:D71, +BMGC_DS13469,BMG_DS044616,Other and unspecified diseases of blood and blood-forming organs,UMLS ID:C2873822,,,,,,,,,,,ICD10 ID:D75, +BMGC_DS13470,BMG_DS044617,Polycythemia due to erythropoietin,UMLS ID:C2873823,,,"Acquired polycythaemia, unspecified",ICD11 ID:3A81.Z,,,,,familial erythrocytosis 2,DOID:0060474,ICD10 ID:D75.1, +BMGC_DS13471,BMG_DS044618,Polycythemia due to stress,UMLS ID:C2873824,,,"Acquired polycythaemia, unspecified",ICD11 ID:3A81.Z,,,,,familial erythrocytosis 2,DOID:0060474,ICD10 ID:D75.1, +BMGC_DS13472,BMG_DS044627,C1 esterase inhibitor [C1-INH] deficiency,UMLS ID:C2873848,,,"Defects in the complement system, unspecified",ICD11 ID:4A00.1Z,,,,,complement component 2 deficiency | complement component 4b deficiency | complement component 9 deficiency | type I complement component 8 deficiency | type II complement component 8 deficiency,DOID:0060303;DOID:0060302;DOID:0060295;DOID:0060301;DOID:0060298,ICD10 ID:D84.1, +BMGC_DS13473,BMG_DS044770,Isolated pituitary hormone deficiency,UMLS ID:C2874188,Isolated deficiency of pituitary hormone | Isolated deficiency of pituitary hormone (disorder) | Isolated pituitary hormone deficiency,SNOMEDCT ID:1217051009,,,,,,,,,, +BMGC_DS13474,BMG_DS044771,Pituitary short stature,UMLS ID:C2874190,,,Hypopituitarism,ICD11 ID:5A61.0,,,,,hypogonadotropic hypogonadism 5 with or without anosmia | hypogonadotropic hypogonadism 7 with or without anosmia | hypogonadotropic hypogonadism 9 with or without anosmia | isolated growth hormone deficiency type IB | hypogonadotropic hypogonadism 21 with or without anosmia | hypogonadotropic hypogonadism 17 with or without anosmia | hypogonadotropic hypogonadism 6 with or without anosmia | isolated growth hormone deficiency type IA | isolated growth hormone deficiency type III | hypogonadotropic hypogonadism 10 with or without anosmia | hypogonadotropic hypogonadism 2 with or without anosmia | hypogonadotropic hypogonadism 22 with or without anosmia | hypogonadotropic hypogonadism 4 with or without anosmia | hypogonadotropic hypogonadism 1 with or without anosmia | hypogonadotropic hypogonadism 15 with or without anosmia | hypogonadotropic hypogonadism 16 with or without anosmia | hypogonadotropic hypogonadism 3 with or without anosmia | hypogonadotropic hypogonadism 14 with or without anosmia | hypogonadotropic hypogonadism 13 with or without anosmia | hypogonadotropic hypogonadism 19 with or without anosmia | hypogonadotropic hypogonadism 18 with or without anosmia | hypogonadotropic hypogonadism 12 with or without anosmia | hypogonadotropic hypogonadism | hypogonadotropic hypogonadism 11 with or without anosmia | hypogonadotropic hypogonadism 8 with or without anosmia | hypogonadotropic hypogonadism 20 with or without anosmia,DOID:0090072;DOID:0090087;DOID:0060875;DOID:0090073;DOID:0090076;DOID:0090092;DOID:0060873;DOID:0090080;DOID:0090075;DOID:0090077;DOID:0090071;DOID:0090082;DOID:0090084;DOID:0090074;DOID:0090093;DOID:0060874;DOID:0090078;DOID:0090070;DOID:0090085;DOID:0090094;DOID:0090086;DOID:0090083;DOID:0090081;DOID:0090079;DOID:0090089;DOID:0090090,ICD10 ID:E23.0, +BMGC_DS13475,BMG_DS044780,"DELAYED PUBERTY, SELF-LIMITED",UMLS ID:C2874202,,,,,"delayed puberty, self-limited",MONDO:0859205,,,,,,OMIM ID:606666 | OMIM ID:619613 +BMGC_DS13476,BMG_DS044786,Beriberi with cardiovascular manifestations,UMLS ID:C2874222,,,,,,,,,wet beriberi,DOID:0070317,ICD10 ID:E51.12, +BMGC_DS13477,BMG_DS044787,Shoshin disease,UMLS ID:C2874223,,,,,,,,,wet beriberi,DOID:0070317,ICD10 ID:E51.12, +BMGC_DS13478,BMG_DS044823,"GM2-GANGLIOSIDOSIS, ADULT",UMLS ID:C2874270,,,,,,,,,,,,OMIM ID:606869 +BMGC_DS13479,BMG_DS044853,Other and unspecified metabolic disorders,UMLS ID:C2874310,,,,,,,,,,,ICD10 ID:E88, +BMGC_DS13480,BMG_DS044890,Familial torsion dystonia,UMLS ID:C2875058,,,"Primary dystonia, unspecified",ICD11 ID:8A02.0Z,,,,,dystonia 27 | dystonia 21 | torsion dystonia 1 | dopa-responsive dystonia | torsion dystonia 2 | torsion dystonia 4 | torsion dystonia 13 | myoclonic dystonia 11 | dystonia 25 | X-linked dystonia-parkinsonism | torsion dystonia 6 | torsion dystonia 17,DOID:0090039;DOID:0090034;DOID:0060730;DOID:0090046;DOID:0090041;DOID:0090037;DOID:0090050;DOID:0090055;DOID:0090042;DOID:0090043;DOID:0090057;DOID:0090038,ICD10 ID:G24.1, +BMGC_DS13481,BMG_DS044895,Disseminated multiple sclerosis,UMLS ID:C2875068,,,,,,,,,,,ICD10 ID:G35, +BMGC_DS13482,BMG_DS044936,Epilepsies and epileptic syndromes undetermined as to whether they are focal or generalized,UMLS ID:C2875129,,,"Epilepsy or seizures, unspecified",ICD11 ID:8A6Z,,,,,photosensitive epilepsy,DOID:0060281,ICD10 ID:G40.8, +BMGC_DS13483,BMG_DS045055,Peroneal muscular atrophy (axonal type) (hypertrophic type),UMLS ID:C2875300,,,"Hereditary motor and sensory neuropathy, unspecified",ICD11 ID:8C20.Z,,,,,Charcot-Marie-Tooth disease type 2Y | Charcot-Marie-Tooth disease type 4F | Charcot-Marie-Tooth disease type 2J | Charcot-Marie-Tooth disease axonal type 2H | Charcot-Marie-Tooth disease type 2A1 | Charcot-Marie-Tooth disease type 1F | Charcot-Marie-Tooth disease type 2R | Charcot-Marie-Tooth disease recessive intermediate B | Charcot-Marie-Tooth disease X-linked dominant 6 | agenesis of the corpus callosum with peripheral neuropathy | Charcot-Marie-Tooth disease type 1A | Charcot-Marie-Tooth disease type 4J | Charcot-Marie-Tooth disease type 4D | Charcot-Marie-Tooth disease type 4E | Charcot-Marie-Tooth disease X-linked recessive 5 | Charcot-Marie-Tooth disease axonal type 2C | Charcot-Marie-Tooth disease axonal type 2T | Charcot-Marie-Tooth disease dominant intermediate F | Charcot-Marie-Tooth disease type 2D | Charcot-Marie-Tooth disease axonal type 2U | Charcot-Marie-Tooth disease type 4B3 | Charcot-Marie-Tooth disease type 2A2A | Charcot-Marie-Tooth disease axonal type 2O | Charcot-Marie-Tooth disease recessive intermediate D | Charcot-Marie-Tooth disease type 4G | Charcot-Marie-Tooth disease axonal type 2N | Charcot-Marie-Tooth disease axonal type 2F | Charcot-Marie-Tooth disease axonal type 2K | Charcot-Marie-Tooth disease type 4C | Charcot-Marie-Tooth disease axonal type 2Q | Charcot-Marie-Tooth disease axonal type 2L | Charcot-Marie-Tooth disease recessive intermediate C | Charcot-Marie-Tooth disease type 2E | Charcot-Marie-Tooth disease X-linked recessive 4 | Charcot-Marie-Tooth disease type 1B | Charcot-Marie-Tooth disease type 1E | Charcot-Marie-Tooth disease axonal type 2P | Charcot-Marie-Tooth disease X-linked dominant 1 | Charcot-Marie-Tooth disease dominant intermediate E | Charcot-Marie-Tooth disease type 4H | Charcot-Marie-Tooth disease type 4K,DOID:0110170;DOID:0110163;DOID:0110184;DOID:0110194;DOID:0110165;DOID:0110203;DOID:0110161;DOID:0110168;DOID:0110173;DOID:0110198;DOID:0110169;DOID:0110192;DOID:0110196;DOID:0110205;DOID:0110175;DOID:0110206;DOID:0110160;DOID:0110167;DOID:0110174;DOID:0110193;DOID:0110148;DOID:0110155;DOID:0110186;DOID:0110187;DOID:0110204;DOID:0110157;DOID:0110209;DOID:0110154;DOID:0110149;DOID:0110153;DOID:0110152;DOID:0110212;DOID:0110164;DOID:0110182;DOID:0090003;DOID:0110195;DOID:0110207;DOID:0110166;DOID:0110183;DOID:0110210;DOID:0110177,ICD10 ID:G60.0, +BMGC_DS13484,BMG_DS045056,Dominantly inherited sensory neuropathy,UMLS ID:C2875301,,,"Disorders of nerve root, plexus or peripheral nerves, unspecified",ICD11 ID:8C4Z,,,,,hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E,DOID:0070158;DOID:0070149;DOID:0070151,ICD10 ID:G60.8, +BMGC_DS13485,BMG_DS045057,Nelaton's syndrome,UMLS ID:C2875302,,,"Disorders of nerve root, plexus or peripheral nerves, unspecified",ICD11 ID:8C4Z,,,,,hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E,DOID:0070158;DOID:0070149;DOID:0070151,ICD10 ID:G60.8, +BMGC_DS13486,BMG_DS045058,Recessively inherited sensory neuropathy,UMLS ID:C2875303,,,"Disorders of nerve root, plexus or peripheral nerves, unspecified",ICD11 ID:8C4Z,,,,,hereditary sensory and autonomic neuropathy type 6 | hereditary sensory and autonomic neuropathy type 7 | hereditary sensory neuropathy type 1E,DOID:0070158;DOID:0070149;DOID:0070151,ICD10 ID:G60.8, +BMGC_DS13487,BMG_DS045074,Paraplegia (paraparesis) and quadriplegia (quadriparesis),UMLS ID:C2875338,,,,,,,,,,,ICD10 ID:G82, +BMGC_DS13488,BMG_DS047090,"Cardiac, heart or myocardial failure NOS",UMLS ID:C2882277,,,"Heart failure, unspecified",ICD11 ID:BD1Z,,,,,,,ICD10 ID:I50.9, +BMGC_DS13489,BMG_DS047560,Sepsis caused by Streptococcus pneumoniae,UMLS ID:C2887084,Sepsis caused by Streptococcus pneumoniae (disorder) | Sepsis caused by Streptococcus pneumoniae | Severe sepsis with acute organ dysfunction caused by Pneumococcus,SNOMEDCT ID:448421008,,,,,,,,,, +BMGC_DS13490,BMG_DS047563,Sepsis caused by Staphylococcus aureus,UMLS ID:C2887088,Sepsis caused by Staphylococcus aureus (disorder) | Sepsis caused by Staphylococcus aureus,SNOMEDCT ID:448417001,,,,,,,,,, +BMGC_DS13491,BMG_DS047566,Sepsis caused by Haemophilus influenzae,UMLS ID:C2887091,Sepsis caused by Haemophilus influenzae | Sepsis caused by Haemophilus influenzae (disorder) | Severe sepsis with acute organ dysfunction caused by Haemophilus influenzae,SNOMEDCT ID:447685007,,,,,,,,,, +BMGC_DS13492,BMG_DS047570,Sepsis due to Pseudomonas,UMLS ID:C2887096,Sepsis caused by Pseudomonas | Sepsis caused by Pseudomonas (disorder) | Severe sepsis with acute organ dysfunction caused by Pseudomonas,SNOMEDCT ID:448813005,,,,,,,,,ICD10 ID:A41.52, +BMGC_DS13493,BMG_DS047571,Sepsis caused by Serratia,UMLS ID:C2887097,Sepsis caused by Serratia (disorder) | Sepsis caused by Serratia | Severe sepsis with acute organ dysfunction caused by Serratia,SNOMEDCT ID:449084002,,,,,,,,,, +BMGC_DS13494,BMG_DS047776,Bronchopneumonia due to S. pneumoniae,UMLS ID:C2887412,,,,,,,,,Streptococcus pneumonia,DOID:0040084,ICD10 ID:J13, +BMGC_DS13495,BMG_DS047813,"Respiratory Distress Syndrome, Acute",UMLS ID:C2887484,,,,,acute respiratory distress syndrome,MONDO:0006502,Respiratory Distress Syndrome,MeSH ID:D012128,,,, +BMGC_DS13496,BMG_DS047847,Dental abscess with sinus,UMLS ID:C2887541,,,Periapical abscess with sinus,ICD11 ID:DA09.61,,,,,dental abscess,DOID:0060324,ICD10 ID:K04.6, +BMGC_DS13497,BMG_DS047848,Dentoalveolar abscess with sinus,UMLS ID:C2887542,,,Periapical abscess with sinus,ICD11 ID:DA09.61,,,,,dental abscess,DOID:0060324,ICD10 ID:K04.6, +BMGC_DS13498,BMG_DS047959,Crohn's disease [regional enteritis] of duodenum,UMLS ID:C2887749,,,Crohn disease of small intestine,ICD11 ID:DD70.1,,,,,gastroduodenal Crohn's disease | jejunoileitis,DOID:0060191;DOID:0060188,ICD10 ID:K50.0, +BMGC_DS13499,BMG_DS047960,Crohn's disease [regional enteritis] of ileum,UMLS ID:C2887750,,,Crohn disease of small intestine,ICD11 ID:DD70.1,,,,,gastroduodenal Crohn's disease | jejunoileitis,DOID:0060191;DOID:0060188,ICD10 ID:K50.0, +BMGC_DS13500,BMG_DS047961,Crohn's disease [regional enteritis] of jejunum,UMLS ID:C2887751,,,Crohn disease of small intestine,ICD11 ID:DD70.1,,,,,gastroduodenal Crohn's disease | jejunoileitis,DOID:0060191;DOID:0060188,ICD10 ID:K50.0, +BMGC_DS13501,BMG_DS048230,Psoriasiform diaper rash,UMLS ID:C2888147,,,,,,,,,,,ICD10 ID:L22, +BMGC_DS13502,BMG_DS048235,Other and unspecified dermatitis,UMLS ID:C2888175,,,,,,,,,,,ICD10 ID:L30, +BMGC_DS13503,BMG_DS048236,Von Zumbusch's disease,UMLS ID:C2888177,,,Generalised pustular psoriasis,ICD11 ID:EA90.40,,,,,pustular psoriasis 14,DOID:0080474,ICD10 ID:L40.1, +BMGC_DS13504,BMG_DS048618,Atrophie blanche (en plaque),UMLS ID:C2888634,,,Livedoid vasculopathy,ICD11 ID:EF50,,,,,livedoid vasculitis,DOID:0040099,ICD10 ID:L95.0, +BMGC_DS13505,BMG_DS049585,Post traumatic osteoarthritis,UMLS ID:C2894027,Post traumatic osteoarthritis | Post traumatic osteoarthritis (disorder),SNOMEDCT ID:699262001,,,,,,,,,, +BMGC_DS13506,BMG_DS050995,"Other and unspecified soft tissue disorders, not elsewhere classified",UMLS ID:C2896437,,,,,,,,,,,ICD10 ID:M79, +BMGC_DS13507,BMG_DS051828,Nephrotic syndrome with focal and segmental hyalinosis,UMLS ID:C2902887,,,Nephrotic syndrome,ICD11 ID:GB41,,,,,focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 9,DOID:0111134;DOID:0111133;DOID:0111132;DOID:0111131;DOID:0111128,ICD10 ID:N04.1, +BMGC_DS13508,BMG_DS051829,Nephrotic syndrome with focal and segmental sclerosis,UMLS ID:C2902888,,,Nephrotic syndrome,ICD11 ID:GB41,,,,,focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 9,DOID:0111134;DOID:0111133;DOID:0111132;DOID:0111131;DOID:0111128,ICD10 ID:N04.1, +BMGC_DS13509,BMG_DS051830,Nephrotic syndrome with focal glomerulonephritis,UMLS ID:C2902889,,,Nephrotic syndrome,ICD11 ID:GB41,,,,,focal segmental glomerulosclerosis 1 | focal segmental glomerulosclerosis 7 | focal segmental glomerulosclerosis 8 | focal segmental glomerulosclerosis 6 | focal segmental glomerulosclerosis 9,DOID:0111134;DOID:0111133;DOID:0111132;DOID:0111131;DOID:0111128,ICD10 ID:N04.1, +BMGC_DS13510,BMG_DS051896,Other and unspecified disorders of prostate,UMLS ID:C2903013,,,,,,,,,,,ICD10 ID:N42, +BMGC_DS13511,BMG_DS052027,,UMLS ID:C2909036,,,,,twin to twin transfusion syndrome,MONDO:0019805,,,twin-to-twin transfusion syndrome,DOID:13576,, +BMGC_DS13512,BMG_DS052107,Congenital cerebral aneurysm (nonruptured),UMLS ID:C2910157,,,"Structural developmental anomalies of the peripheral vascular system, unspecified",ICD11 ID:LA90.Z,,,,,cerebral cavernous malformation 2 | cerebral cavernous malformation 3,DOID:0060670;DOID:0060671,ICD10 ID:Q28.3, +BMGC_DS13513,BMG_DS052120,Hemimelia of limb NOS,UMLS ID:C2910324,,,"Syndromes with micromelia, unspecified",ICD11 ID:LD24.0Z,,,,,brachydactyly-preaxial hallux varus syndrome | brachydactyly type B2 | brachydactyly type A4 | Ballard syndrome,DOID:0110962;DOID:0110967;DOID:0110975;DOID:0110963,ICD10 ID:Q73.8, +BMGC_DS13514,BMG_DS052121,Asphyxiating thoracic dysplasia [Jeune],UMLS ID:C2910340,,,"Short rib syndromes, unspecified",ICD11 ID:LD24.BZ,,,,,asphyxiating thoracic dystrophy 3 | asphyxiating thoracic dystrophy | short-rib thoracic dysplasia 8 with or without polydactyly | asphyxiating thoracic dystrophy 1 | asphyxiating thoracic dystrophy 4 | short-rib thoracic dysplasia 6 with or without polydactyly | asphyxiating thoracic dystrophy 5 | short-rib thoracic dysplasia 13 with or without polydactyly | short-rib thoracic dysplasia 11 with or without polydactyly | short-rib thoracic dysplasia 7 with or without polydactyly,DOID:0110095;DOID:0110088;DOID:0110092;DOID:0110085;DOID:0050592;DOID:0110087;DOID:0110090;DOID:0110094;DOID:0110089;DOID:0110093,ICD10 ID:Q77.2, +BMGC_DS13515,BMG_DS052123,Inherited keratosis palmaris et plantaris,UMLS ID:C2910342,,,"Structural developmental anomalies of the skin, unspecified",ICD11 ID:LC7Z,,,,,autosomal dominant cutis laxa | autosomal recessive cutis laxa type IIIB | autosomal recessive cutis laxa type IIA | autosomal recessive cutis laxa type IID | autosomal dominant cutis laxa 3 | autosomal recessive cutis laxa type IIIA | autosomal recessive cutis laxa type IB | autosomal dominant cutis laxa 2 | autosomal dominant cutis laxa 1 | autosomal recessive cutis laxa type IIB | autosomal recessive cutis laxa type IIC | autosomal recessive cutis laxa type II classic type | autosomal recessive cutis laxa type IA,DOID:0070142;DOID:0070132;DOID:0070141;DOID:0070129;DOID:0070130;DOID:0070134;DOID:0070138;DOID:0070135;DOID:0070131;DOID:0070137;DOID:0070140;DOID:0070136;DOID:0070133,ICD10 ID:Q82.8, +BMGC_DS13516,BMG_DS052124,Keratosis follicularis [Darier-White],UMLS ID:C2910343,,,"Structural developmental anomalies of the skin, unspecified",ICD11 ID:LC7Z,,,,,autosomal dominant cutis laxa | autosomal recessive cutis laxa type IIIB | autosomal recessive cutis laxa type IIA | autosomal recessive cutis laxa type IID | autosomal dominant cutis laxa 3 | autosomal recessive cutis laxa type IIIA | autosomal recessive cutis laxa type IB | autosomal dominant cutis laxa 2 | autosomal dominant cutis laxa 1 | autosomal recessive cutis laxa type IIB | autosomal recessive cutis laxa type IIC | autosomal recessive cutis laxa type II classic type | autosomal recessive cutis laxa type IA,DOID:0070142;DOID:0070132;DOID:0070141;DOID:0070129;DOID:0070130;DOID:0070134;DOID:0070138;DOID:0070135;DOID:0070131;DOID:0070137;DOID:0070140;DOID:0070136;DOID:0070133,ICD10 ID:Q82.8, +BMGC_DS13517,BMG_DS052131,Trisomy 18 and Trisomy 13,UMLS ID:C2910353,,,,,,,,,,,ICD10 ID:Q91, +BMGC_DS13518,BMG_DS052138,"46, XY with streak gonads",UMLS ID:C2910379,,,"Malformative disorders of sex development, unspecified | Chimaera 46, XX, 46, XY, unspecified",ICD11 ID:LD2A.Z | ICD11 ID:LD56.Z,,,,,hypogonadotropic hypogonadism 23 with or without anosmia,DOID:0090091,ICD10 ID:Q56.1 | ICD10 ID:Q99.1, +BMGC_DS13519,BMG_DS052232,Congenital hemolytic uremic syndrome,UMLS ID:C2919522,Congenital hemolytic uremic syndrome (disorder) | Congenital haemolytic uraemic syndrome | Congenital hemolytic uremic syndrome,SNOMEDCT ID:444976001,,,,,,,,,, +BMGC_DS13520,BMG_DS052236,Nonsustained Ventricular Tachycardia,UMLS ID:C2919575,,,,,,,"Tachycardia, Ventricular",MeSH ID:D017180,,,, +BMGC_DS13521,BMG_DS052256,,UMLS ID:C2919692,,,,,acute myeloid leukemia with t(9;11)(p22;q23),MONDO:0018434,,,,,, +BMGC_DS13522,BMG_DS052268,Glycogen storage disease type Ia,UMLS ID:C2919796,"Glycogen storage disease, type I | Hepatorenal glycogen storage disease | von Gierke's disease | GSD I | Liver glycogen disease | von Gierke disease | Glycogen storage disease, type I (disorder) | Glycogen storage disease, type 1 | Glycogen storage disease type Ia (disorder) | Glycogen storage disease type Ia",SNOMEDCT ID:7265005 | SNOMEDCT ID:444707001,,,glycogen storage disease due to glucose-6-phosphatase deficiency type IA,MONDO:0009287,,,,,,OMIM ID:232200 +BMGC_DS13523,BMG_DS052277,Chronic ulcerative colitis,UMLS ID:C2919828,Colitis gravis | Ulcerative colitis | Ulcerative colitis (disorder) | Idiopathic proctocolitis | UC - ulcerative colitis | Chronic ulcerative colitis (disorder) | Chronic ulcerative colitis,SNOMEDCT ID:64766004 | SNOMEDCT ID:444546002,,,,,,,,,, +BMGC_DS13524,BMG_DS052293,,UMLS ID:C2919945,,,,,cerebral cavernous malformation,MONDO:0000820,,,,,, +BMGC_DS13525,BMG_DS052318,Bilateral Wilms Tumor,UMLS ID:C2930471,,,,,,,Wilms Tumor,MeSH ID:D009396,,,, +BMGC_DS13526,BMG_DS052322,Pulmonary Fibrosis - from Asbestos Exposure,UMLS ID:C2930617,,,,,,,Asbestosis,MeSH ID:D001195,,,, +BMGC_DS13527,BMG_DS052323,Sex Differentiation Disorders,UMLS ID:C2930619,,,,,disorder of sexual differentiation,MONDO:0002145,Disorders of Sex Development,MeSH ID:D012734,,,, +BMGC_DS13528,BMG_DS052327,Familial acanthosis nigricans,UMLS ID:C2930792,,,,,familial acanthosis nigricans,MONDO:0043003,,MeSH ID:C531598,,,,OMIM ID:100600 +BMGC_DS13529,BMG_DS052330,Primary visual agnosia,UMLS ID:C2930796,,,,,,,,MeSH ID:C531604,visual agnosia,DOID:0060155,, +BMGC_DS13530,BMG_DS052335,Familial antiphospholipid syndrome,UMLS ID:C2930802,,,,,familial antiphospholipid syndrome,MONDO:8000014,,MeSH ID:C531622,,,,OMIM ID:107320 +BMGC_DS13531,BMG_DS052365,Familial pityriasis rubra pilaris,UMLS ID:C2930842,,,,,familial pityriasis rubra pilaris,MONDO:0008251,,MeSH ID:C531784,,,,OMIM ID:173200 +BMGC_DS13532,BMG_DS052366,Idiopathic intracranial hypertension with papilledema,UMLS ID:C2930843,,,,,,,,MeSH ID:C531795,,,, +BMGC_DS13533,BMG_DS052367,Hypopituitarism and septooptic 'dysplasia',UMLS ID:C2930844,,,,,,,,MeSH ID:C531815,,,, +BMGC_DS13534,BMG_DS052378,"Premature ovarian failure, familial",UMLS ID:C2930861,,,,,inherited primary ovarian failure,MONDO:0019852,,MeSH ID:C535272,,,, +BMGC_DS13535,BMG_DS052382,Ramer Ladda syndrome,UMLS ID:C2930865,,,,,humeroradial synostosis,MONDO:0007737,,MeSH ID:C535284,humeroradial synostosis,DOID:0060467,,OMIM ID:143050 +BMGC_DS13536,BMG_DS052383,Ramos Arroyo Clark syndrome,UMLS ID:C2930866,,,,,Ramos-Arroyo syndrome,MONDO:0007382,,MeSH ID:C535286,,,,OMIM ID:122430 +BMGC_DS13537,BMG_DS052394,"Cataract, congenital, with microcornea or slight microphthalmia",UMLS ID:C2930878,,,,,,,,MeSH ID:C535338,,,, +BMGC_DS13538,BMG_DS052404,"Congenital thrombotic disease, due to Protein C deficiency",UMLS ID:C2930896,,,,,,,,MeSH ID:C535424,,,, +BMGC_DS13539,BMG_DS052406,Benign essential blepharospasm,UMLS ID:C2930898,Blepharospasm | Blepharospasm (disorder) | Spasm of eyelids | Essential blepharospasm | Benign essential blepharospasm | Blepharospasm (spasm of eyelid),SNOMEDCT ID:59026006,,,benign essential blepharospasm,MONDO:0011728,,MeSH ID:C535428,,,, +BMGC_DS13540,BMG_DS052408,Beta-sarcoglycanopathy,UMLS ID:C2930900,,,,,qualitative or quantitative defects of beta-sarcoglycan,MONDO:0016142,,MeSH ID:C535435,,,, +BMGC_DS13541,BMG_DS052417,Ring Chromosome 14 Syndrome,UMLS ID:C2930916,,,,,ring chromosome 14,MONDO:0014708,,MeSH ID:C535487,ring chromosome 14 syndrome,DOID:0070621,,OMIM ID:616606 +BMGC_DS13542,BMG_DS052427,Abdominal obesity metabolic syndrome,UMLS ID:C2930930,,,,,abdominal obesity-metabolic syndrome,MONDO:0000816,,MeSH ID:C535554,abdominal obesity-metabolic syndrome,DOID:0060611,, +BMGC_DS13543,BMG_DS052448,Freire-Maia odontotrichomelic syndrome,UMLS ID:C2930960,,,,,odontotrichomelic syndrome,MONDO:0010111,,MeSH ID:C535637,,,,OMIM ID:273400 +BMGC_DS13544,BMG_DS052449,Frenkel Russe syndrome,UMLS ID:C2930961,,,,,retinal telangiectasia and hypogammaglobulinemia,MONDO:0009980,,MeSH ID:C535638,,,,OMIM ID:267900 +BMGC_DS13545,BMG_DS052455,,UMLS ID:C2930967,,,,,"digestive system neuroendocrine tumor, grade 1/2",MONDO:0000386,,,,,, +BMGC_DS13546,BMG_DS052458,Acromesomelic dysplasia Hunter-Thompson type,UMLS ID:C2930970,Hunter-Thompson dysplasia | Acromesomelic dysplasia Hunter-Thompson type (disorder) | Acromesomelic dysplasia Hunter-Thompson type,SNOMEDCT ID:389167007,,,"acromesomelic dysplasia 2C, Hunter-Thompson type",MONDO:0008717,,MeSH ID:C535658,acromesomelic dysplasia,DOID:0080049,,OMIM ID:201250 +BMGC_DS13547,BMG_DS052462,Acute erythroleukemia,UMLS ID:C2930974,,,,,,,,MeSH ID:C535673,,,, +BMGC_DS13548,BMG_DS052463,Acute erythroleukemia - M6a subtype,UMLS ID:C2930975,,,,,,,,MeSH ID:C535673,,,, +BMGC_DS13549,BMG_DS052464,Acute myeloid leukemia FAB-M6,UMLS ID:C2930976,,,,,,,,MeSH ID:C535673,,,, +BMGC_DS13550,BMG_DS052465,Acute erythroleukemia - M6b subtype,UMLS ID:C2930977,,,,,,,,MeSH ID:C535673,,,, +BMGC_DS13551,BMG_DS052466,Richieri Costa Da Silva syndrome,UMLS ID:C2930978,,,,,Richieri Costa-da Silva syndrome,MONDO:0009716,,MeSH ID:C535675,,,,OMIM ID:255710 +BMGC_DS13552,BMG_DS052468,,UMLS ID:C2930980,,,,,"malignant hyperthermia, susceptibility to, 1",MONDO:0007783,,,,,,OMIM ID:145600 +BMGC_DS13553,BMG_DS052469,,UMLS ID:C2930981,,,,,"malignant hyperthermia, susceptibility to, 2",MONDO:0007939,,,,,,OMIM ID:154275 +BMGC_DS13554,BMG_DS052470,,UMLS ID:C2930982,,,,,"malignant hyperthermia, susceptibility to, 3",MONDO:0007940,,,,,,OMIM ID:154276 +BMGC_DS13555,BMG_DS052472,"Maple syrup urine disease, type 1A",UMLS ID:C2930989,,,,,,,,MeSH ID:C535710,,,, +BMGC_DS13556,BMG_DS052473,"Maple syrup urine disease, type 1B",UMLS ID:C2930990,,,,,maple syrup urine disease type 1B,MONDO:0023692,,MeSH ID:C535711,,,,OMIM ID:620698 +BMGC_DS13557,BMG_DS052476,Familial duodenal atresia,UMLS ID:C2930994,,,,,,,,MeSH ID:C535720,duodenal atresia,DOID:0080216,, +BMGC_DS13558,BMG_DS052477,Dyschromatosis universalis hereditaria,UMLS ID:C2930995,,,,,dyschromatosis universalis hereditaria,MONDO:0000736,,MeSH ID:C535730,dyschromatosis universalis hereditaria,DOID:0060304,, +BMGC_DS13559,BMG_DS052479,Congenital disorder of glycosylation type 1C,UMLS ID:C2930997,,,,,ALG6-congenital disorder of glycosylation 1C,MONDO:0011291,,MeSH ID:C535741,,,,OMIM ID:603147 +BMGC_DS13560,BMG_DS052480,Congenital disorder of glycosylation type 1G,UMLS ID:C2931001,ALG12-congenital disorder of glycosylation (disorder) | ALG12-congenital disorder of glycosylation | Congenital disorder of glycosylation type Ig | Congenital disorder of glycosylation type 1G,SNOMEDCT ID:711155008,,,ALG12-congenital disorder of glycosylation,MONDO:0011783,,MeSH ID:C535745,,,,OMIM ID:607143 +BMGC_DS13561,BMG_DS052481,Congenital disorder of glycosylation type 1H,UMLS ID:C2931002,,,,,ALG8-congenital disorder of glycosylation,MONDO:0011969,,MeSH ID:C535746,,,,OMIM ID:608104 +BMGC_DS13562,BMG_DS052482,Congenital disorder of glycosylation type 1J,UMLS ID:C2931004,,,,,DPAGT1-congenital disorder of glycosylation,MONDO:0011964,,MeSH ID:C535748,,,,OMIM ID:608093 +BMGC_DS13563,BMG_DS052483,Congenital disorder of glycosylation type 1K,UMLS ID:C2931005,Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) | Asparagine-linked glycosylation 1 congenital disorder of glycosylation | ALG1 congenital disorder of glycosylation | Congenital disorder of glycosylation type 1K | Carbohydrate deficient glycoprotein syndrome type Ik | Mannosyltransferase 1 deficiency | ALG1-CDG - asparagine-linked glycosylation 1 congenital disorder of glycosylation,SNOMEDCT ID:720941007,,,ALG1-congenital disorder of glycosylation,MONDO:0012052,,MeSH ID:C535749,,,,OMIM ID:608540 +BMGC_DS13564,BMG_DS052484,Congenital disorder of glycosylation type 1L,UMLS ID:C2931006,Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) | Asparagine-linked glycosylation 9 congenital disorder of glycosylation | ALG9 congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type IL | Congenital disorder of glycosylation type 1L | Congenital disorder of glycosylation type IL | Mannosyltransferase 7-9 deficiency | ALG9-CDG - asparagine-linked glycosylation 9 congenital disorder of glycosylation,SNOMEDCT ID:720978005,,,ALG9-congenital disorder of glycosylation,MONDO:0012117,,MeSH ID:C535750,,,,OMIM ID:608776 +BMGC_DS13565,BMG_DS052485,Congenital disorder of glycosylation type 1X,UMLS ID:C2931007,,,,,STT3B-congenital disorder of glycosylation,MONDO:0014271,,MeSH ID:C535751,,,,OMIM ID:615597 +BMGC_DS13566,BMG_DS052486,Congenital disorder of glycosylation type 2A,UMLS ID:C2931008,,,,,MGAT2-congenital disorder of glycosylation,MONDO:0008908,,MeSH ID:C535752,congenital disorder of glycosylation type IIa,DOID:0070253,,OMIM ID:212066 +BMGC_DS13567,BMG_DS052487,Congenital disorder of glycosylation type 2D,UMLS ID:C2931009,,,,,B4GALT1-congenital disorder of glycosylation,MONDO:0011772,,MeSH ID:C535753,congenital disorder of glycosylation type IId,DOID:0070256,,OMIM ID:607091 +BMGC_DS13568,BMG_DS052488,Congenital disorder of glycosylation type 2E,UMLS ID:C2931010,,,,,COG7-congenital disorder of glycosylation,MONDO:0012118,,MeSH ID:C535754,congenital disorder of glycosylation type IIe,DOID:0070257,,OMIM ID:608779 +BMGC_DS13569,BMG_DS052489,"Congenital disorder of glycosylation, type 2G",UMLS ID:C2931011,,,,,COG1-congenital disorder of glycosylation,MONDO:0012637,,MeSH ID:C535756,congenital disorder of glycosylation type IIg,DOID:0070259,,OMIM ID:611209 +BMGC_DS13570,BMG_DS052491,"Cystinosis, benign, nonnephropathic",UMLS ID:C2931013,,,,,ocular cystinosis,MONDO:0009064,,MeSH ID:C535765,,,,OMIM ID:219750 +BMGC_DS13571,BMG_DS052496,,UMLS ID:C2931019,,,,,split hand-foot malformation 1,MONDO:0008464,,,,,,OMIM ID:183600 +BMGC_DS13572,BMG_DS052505,"Nevi flammei, familial multiple",UMLS ID:C2931029,,,,,familial multiple nevi flammei,MONDO:0008094,,MeSH ID:C535816,familial multiple nevi flammei,DOID:0111529,,OMIM ID:163000 +BMGC_DS13573,BMG_DS052511,"Pulmonary alveolar proteinosis, congenital",UMLS ID:C2931035,,,,,,,,MeSH ID:C535832,,,, +BMGC_DS13574,BMG_DS052513,"Pancreatic cancer, adult",UMLS ID:C2931037,,,,,,,,MeSH ID:C535836,,,, +BMGC_DS13575,BMG_DS052514,,UMLS ID:C2931038,,,,,familial pancreatic carcinoma,MONDO:0015278,,,,,,OMIM ID:260350 +BMGC_DS13576,BMG_DS052517,Hawkinsinuria,UMLS ID:C2931042,4-Hydroxyphenylpyruvate dioxygenase deficiency | Hawkinsinuria | 4-Hydroxyphenylpyruvate hydroxylase deficiency | Tyrosinaemia type III | Tyrosinemia type III | 4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) | Hawkinsinuria | Hawkinsinuria (disorder) | Hawkinsinuria (disorder) | Hawkinsinuria | HPD-gene related hawkinsinuria,SNOMEDCT ID:403001 | SNOMEDCT ID:297227008 | SNOMEDCT ID:414380008,,,hawkinsinuria,MONDO:0007700,,MeSH ID:C535845,hawkinsinuria,DOID:0111362,,OMIM ID:140350 +BMGC_DS13577,BMG_DS052519,"Heart defect, tongue hamartoma and polysyndactyly",UMLS ID:C2931046,,,,,,,,MeSH ID:C535849,"congenital heart defects, hamartomas of tongue, and polysyndactyly",DOID:0111591,, +BMGC_DS13578,BMG_DS052521,HEM dysplasia,UMLS ID:C2931048,,,,,Greenberg dysplasia,MONDO:0008974,,MeSH ID:C535858,Greenberg dysplasia,DOID:0111588,,OMIM ID:215140 +BMGC_DS13579,BMG_DS052525,Rubinstein Taybi like syndrome,UMLS ID:C2931052,,,,,Rubinstein Taybi like syndrome,MONDO:0043195,,MeSH ID:C535877,,,,OMIM ID:180850 +BMGC_DS13580,BMG_DS052526,Rudd Klimek syndrome,UMLS ID:C2931053,Familial caudal dysgenesis (disorder) | Familial caudal dysgenesis | Rudd Klimek syndrome,SNOMEDCT ID:722493007,,,familial caudal dysgenesis,MONDO:0010831,,MeSH ID:C535879,,,,OMIM ID:600145 +BMGC_DS13581,BMG_DS052531,Marfan Syndrome Type 2,UMLS ID:C2931058,,,,,,,Marfan Syndrome,MeSH ID:D008382,,,, +BMGC_DS13582,BMG_DS052532,Marie Unna congenital hypotrichosis,UMLS ID:C2931059,Marie Unna syndrome | Marie Unna syndrome (disorder) | Marie Unna hereditary hypotrichosis | Marie Unna congenital hypotrichosis,SNOMEDCT ID:254234005,,,Marie Unna hereditary hypotrichosis,MONDO:0018631,,MeSH ID:C535912,,,, +BMGC_DS13583,BMG_DS052533,Mononen Karnes Senac syndrome,UMLS ID:C2931060,Mononen Karnes Senac syndrome | Skeletal dysplasia brachydactyly syndrome | Skeletal dysplasia brachydactyly syndrome (disorder),SNOMEDCT ID:733095006,,,,,,MeSH ID:C535914,Mononen-Karnes-Senac syndrome,DOID:0110973,, +BMGC_DS13584,BMG_DS052537,Pierre Robin Sequence with Facial and Digital Anomalies,UMLS ID:C2931064,,,,,Pierre Robin syndrome-faciodigital anomaly syndrome,MONDO:0010710,,MeSH ID:C564078,,,,OMIM ID:311895 +BMGC_DS13585,BMG_DS052540,"Cholestasis, progressive familial intrahepatic 4",UMLS ID:C2931067,,,,,"cholestasis, progressive familial intrahepatic, 4",MONDO:0014381,,MeSH ID:C535442,,,,OMIM ID:615878 +BMGC_DS13586,BMG_DS052544,Epidermolysa bullosa simplex and limb girdle muscular dystrophy,UMLS ID:C2931072,,,,,"epidermolysis bullosa simplex 5B, with muscular dystrophy",MONDO:0009181,,MeSH ID:C535955,,,,OMIM ID:226670 +BMGC_DS13587,BMG_DS052545,"Collagenopathy, type 2 alpha 1",UMLS ID:C2931073,,,,,type 2 collagenopathy,MONDO:0022800,,MeSH ID:C535964,,,, +BMGC_DS13588,BMG_DS052553,Familial apoceruloplasmin deficiency,UMLS ID:C2931082,,,,,,,,MeSH ID:C536004,,,, +BMGC_DS13589,BMG_DS052562,Maternally Inherited Leigh Syndrome,UMLS ID:C2931092,,,,,maternally-inherited Leigh syndrome,MONDO:0016814,,MeSH ID:C536035,,,, +BMGC_DS13590,BMG_DS052563,"Osteogenesis Imperfecta, Type V",UMLS ID:C2931093,,,,,osteogenesis imperfecta type 5,MONDO:0012591,,MeSH ID:C567042,,,,OMIM ID:610967 +BMGC_DS13591,BMG_DS052570,Hydrolethalus syndrome,UMLS ID:C2931104,Hydrolethalus syndrome (disorder) | Hydrolethalus syndrome,SNOMEDCT ID:721232000,,,hydrolethalus syndrome,MONDO:0006037,,MeSH ID:C536079,hydrolethalus syndrome,DOID:0050779,, +BMGC_DS13592,BMG_DS052571,"Hypercalciuria, childhood idiopathic",UMLS ID:C2931105,,,,,,,,MeSH ID:C536082,,,, +BMGC_DS13593,BMG_DS052573,"Myasthenic syndrome, congenital, postsynaptic slow-channel",UMLS ID:C2931107,,,,,congenital myasthenic syndrome 1A,MONDO:0011088,,MeSH ID:C536091,,,,OMIM ID:601462 +BMGC_DS13594,BMG_DS052577,"Myopia, susceptibility to",UMLS ID:C2931111,,,,,,,,MeSH ID:C536105,,,, +BMGC_DS13595,BMG_DS052578,,UMLS ID:C2931112,,,,,myostatin-related muscle hypertrophy,MONDO:0013598,,,myostatin-related muscle hypertrophy,DOID:0111072,,OMIM ID:614160 +BMGC_DS13596,BMG_DS052582,Cerebral Nocardiosis,UMLS ID:C2931116,,,,,,,Nocardia Infections,MeSH ID:D009617,,,, +BMGC_DS13597,BMG_DS052583,Fetal megacystis,UMLS ID:C2931117,,,,,,,,MeSH ID:C536139,,,, +BMGC_DS13598,BMG_DS052584,Megalocytic interstitial nephritis,UMLS ID:C2931118,,,,,,,,MeSH ID:C536144,,,, +BMGC_DS13599,BMG_DS052587,Meier Blumberg Imahorn syndrome,UMLS ID:C2931121,,,,,,,,MeSH ID:C536148,renal hypomagnesemia 5 with ocular involvement,DOID:0060881,, +BMGC_DS13600,BMG_DS052588,Keratosis palmoplantaris striata 1,UMLS ID:C2931122,,,,,"palmoplantar keratoderma i, striate, focal, or diffuse",MONDO:0007859,,MeSH ID:C536162,keratosis palmoplantaris striata 1,DOID:0081108,,OMIM ID:148700 +BMGC_DS13601,BMG_DS052589,Keratosis palmoplantaris striata 3,UMLS ID:C2931123,,,,,keratosis palmoplantaris striata 3,MONDO:0011881,,MeSH ID:C536163,keratosis palmoplantaris striata 3,DOID:0081110,,OMIM ID:607654 +BMGC_DS13602,BMG_DS052596,Clark-Baraitser syndrome,UMLS ID:C2931130,,,,,Clark-Baraitser syndrome,MONDO:0030914,,MeSH ID:C536208,Clark-Baraitser syndrome,DOID:0080234,,OMIM ID:617752 | OMIM ID:300602 +BMGC_DS13603,BMG_DS052597,"Crigler Najjar syndrome, type 2",UMLS ID:C2931132,,,,,Crigler-Najjar syndrome type 2,MONDO:0011725,,MeSH ID:C536213,,,,OMIM ID:606785 +BMGC_DS13604,BMG_DS052598,Pediatric Crohn's disease,UMLS ID:C2931133,,,,,,,,MeSH ID:C536215,,,, +BMGC_DS13605,BMG_DS052599,"Cutis laxa, recessive",UMLS ID:C2931134,,,,,,,,MeSH ID:C536225,,,, +BMGC_DS13606,BMG_DS052600,Blepharophimosis syndrome type 1,UMLS ID:C2931135,,,,,,,,MeSH ID:C536233,,,, +BMGC_DS13607,BMG_DS052601,Blepharophimosis syndrome type 2,UMLS ID:C2931136,,,,,,,,MeSH ID:C536234,,,, +BMGC_DS13608,BMG_DS052605,Nonkeratan-sulfate-excreting Morquio syndrome,UMLS ID:C2931140,,,,,Morquio syndrome C,MONDO:0009647,,MeSH ID:C536247,,,,OMIM ID:252300 +BMGC_DS13609,BMG_DS052607,Qazi Markouizos syndrome,UMLS ID:C2931142,Puerto Rican infant hypotonia syndrome (disorder) | Dysharmonic skeletal maturation and muscular fiber disproportion syndrome | Dysharmonic skeletal maturation and muscular fibre disproportion syndrome | Puerto Rican infant hypotonia syndrome | Qazi Markouizos syndrome,SNOMEDCT ID:721887007,,,Qazi Markouizos syndrome,MONDO:0010816,,MeSH ID:C536259,Qazi Markouizos syndrome,DOID:0050740,,OMIM ID:600096 +BMGC_DS13610,BMG_DS052611,Radio renal syndrome,UMLS ID:C2931146,,,,,radio-renal syndrome,MONDO:0008359,,MeSH ID:C536267,,,,OMIM ID:179280 +BMGC_DS13611,BMG_DS052618,Immunoglobulin a deficiency 1,UMLS ID:C2931161,,,,,IgAD1,MONDO:0007644,,MeSH ID:C536290,,,,OMIM ID:137100 +BMGC_DS13612,BMG_DS052626,Juvenile pauciarticular chronic arthritis,UMLS ID:C2931171,,,,,oligoarticular juvenile idiopathic arthritis,MONDO:0019433,,MeSH ID:C536312,,,, +BMGC_DS13613,BMG_DS052630,"Vestibulocochlear Dysfunction, Progressive",UMLS ID:C2931176,,,,,"vestibulocochlear dysfunction, progressive",MONDO:0008655,,MeSH ID:C536346,,,,OMIM ID:193005 +BMGC_DS13614,BMG_DS052633,Angiofollicular ganglionic hyperplasia,UMLS ID:C2931179,,,,,,,,MeSH ID:C536362,Castleman disease,DOID:0111157,, +BMGC_DS13615,BMG_DS052634,Abdominal angiostrongyliasis,UMLS ID:C2931180,,,,,,,,MeSH ID:C536369,angiostrongyliasis,DOID:0050256,, +BMGC_DS13616,BMG_DS052635,Intravitreal angiostrongyliasis,UMLS ID:C2931181,,,,,,,,MeSH ID:C536369,angiostrongyliasis,DOID:0050256,, +BMGC_DS13617,BMG_DS052641,Nephropathic cystinosis,UMLS ID:C2931187,Infantile nephropathic cystinosis | Nephropathic cystinosis | Lignac-Fanconi syndrome | Infantile nephropathic cystinosis (disorder),SNOMEDCT ID:62332007,,,nephropathic cystinosis,MONDO:0100151,,,cystinosis,DOID:1064,,OMIM ID:219800 +BMGC_DS13618,BMG_DS052645,Prinzmetal's variant angina,UMLS ID:C2931193,,,,,,,,MeSH ID:C536421,,,, +BMGC_DS13619,BMG_DS052651,,UMLS ID:C2931202,,,,,bladder urachal carcinoma,MONDO:0003715,,,bladder urachal carcinoma,DOID:5958,, +BMGC_DS13620,BMG_DS052653,"Usher syndrome, type 1B",UMLS ID:C2931206,,,,,Usher syndrome type 1B,MONDO:0700087,,MeSH ID:C536485,,,,OMIM ID:276900 +BMGC_DS13621,BMG_DS052654,"Usher syndrome, type 1C",UMLS ID:C2931207,,,,,,,,MeSH ID:C536486,,,, +BMGC_DS13622,BMG_DS052655,"Usher syndrome, type 1D",UMLS ID:C2931208,,,,,,,,MeSH ID:C536487,,,, +BMGC_DS13623,BMG_DS052657,"Usher syndrome, type 1F",UMLS ID:C2931210,,,,,,,,MeSH ID:C536489,,,, +BMGC_DS13624,BMG_DS052659,"Usher syndrome, type 2C",UMLS ID:C2931213,,,,,Usher syndrome type 2C,MONDO:0011558,,MeSH ID:C536492,,,,OMIM ID:605472 +BMGC_DS13625,BMG_DS052660,Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities,UMLS ID:C2931214,,,,,tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities,MONDO:0010109,,MeSH ID:C536496,,,,OMIM ID:273390 +BMGC_DS13626,BMG_DS052664,Tetraamelia multiple malformations,UMLS ID:C2931218,,,,,tetraamelia-multiple malformations syndrome,MONDO:0010110,,MeSH ID:C536500,,,, +BMGC_DS13627,BMG_DS052669,6 alpha mercaptopurine sensitivity,UMLS ID:C2931223,,,,,thiopurine metabolic disease,MONDO:0000210,,MeSH ID:C536512,poor metabolism of thiopurines,DOID:0080172,, +BMGC_DS13628,BMG_DS052674,"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS",UMLS ID:C2931228,,,,,"VACTERL association, X-linked, with or without hydrocephalus",MONDO:0010752,,,X-linked VACTERL association,DOID:0111766,,OMIM ID:314390 +BMGC_DS13629,BMG_DS052675,Vacuolar myopathy,UMLS ID:C2931230,,,,,"myopathy, autophagic vacuolar, infantile-onset",MONDO:0012286,,MeSH ID:C536522,,,,OMIM ID:609500 | OMIM ID:MTHU045596 +BMGC_DS13630,BMG_DS052682,,UMLS ID:C2931238,,,,,"triphalangeal thumb, Nonopposable",MONDO:0008605,,,,,,OMIM ID:190600 +BMGC_DS13631,BMG_DS052685,Waldmann disease,UMLS ID:C2931241,,,,,primary intestinal lymphangiectasia,MONDO:0007916,,MeSH ID:C536567,,,,OMIM ID:152800 +BMGC_DS13632,BMG_DS052688,"Craniometaphyseal dysplasia, autosomal recessive type",UMLS ID:C2931244,,,,,"craniometaphyseal dysplasia, autosomal recessive",MONDO:0009035,,MeSH ID:C536570,,,,OMIM ID:218400 +BMGC_DS13633,BMG_DS052689,Bone Marrow Failure Disorders,UMLS ID:C2931245,,,,,bone marrow failure syndrome,MONDO:0000159,Bone Marrow Failure Disorders,MeSH ID:D000080983,,,, +BMGC_DS13634,BMG_DS052690,Potocki-Lupski syndrome,UMLS ID:C2931246,,,,,Potocki-Lupski syndrome,MONDO:0012574,,MeSH ID:C538355,Potocki-Lupski syndrome,DOID:0060853,,OMIM ID:610883 +BMGC_DS13635,BMG_DS052691,"Chromosome 18, monosomy 18Q",UMLS ID:C2931249,,,,,,,,MeSH ID:C536580,chromosome 18q deletion syndrome,DOID:0060407,, +BMGC_DS13636,BMG_DS052695,"Alport syndrome, dominant type",UMLS ID:C2931253,,,,,,,,MeSH ID:C536586,,,, +BMGC_DS13637,BMG_DS052696,"Alport syndrome, recessive type",UMLS ID:C2931254,,,,,,,,MeSH ID:C536587,,,, +BMGC_DS13638,BMG_DS052699,"Amaurosis congenita of Leber, type 1",UMLS ID:C2931258,,,,,Leber congenital amaurosis 1,MONDO:0008764,,MeSH ID:C536600,,,,OMIM ID:204000 +BMGC_DS13639,BMG_DS052701,,UMLS ID:C2931263,,,,,famililal cerebral cavernous malformations,MONDO:0031037,,,,,, +BMGC_DS13640,BMG_DS052704,Scapuloperoneal myopathy,UMLS ID:C2931268,,,,,scapuloperoneal myopathy,MONDO:0000727,,MeSH ID:C536624,scapuloperoneal myopathy,DOID:0060253,, +BMGC_DS13641,BMG_DS052711,Spastic paraplegia 17,UMLS ID:C2931276,,,,,hereditary spastic paraplegia 17,MONDO:0010043,,MeSH ID:C536644,,,,OMIM ID:270685 +BMGC_DS13642,BMG_DS052714,Perniola Krajewska Carnevale syndrome,UMLS ID:C2931280,Alopecia and intellectual disability syndrome (disorder) | Alopecia and intellectual disability syndrome | Perniola Krajewska Carnevale syndrome,SNOMEDCT ID:716191002,,,alopecia - intellectual disability syndrome,MONDO:0008756,,MeSH ID:C536660,,,, +BMGC_DS13643,BMG_DS052722,"Welander distal myopathy, Swedish type",UMLS ID:C2931290,,,,,,,,MeSH ID:C536690,,,, +BMGC_DS13644,BMG_DS052723,Wells Jankovic syndrome,UMLS ID:C2931291,Spastic paraparesis co-occurrent with deafness (disorder) | Spastic paraparesis co-occurrent with deafness | Spastic paraparesis and deafness | Wells Jankovic syndrome,SNOMEDCT ID:715504003,,,spastic paraparesis-deafness syndrome,MONDO:0010732,,MeSH ID:C536692,spastic paraplegia with deafness,DOID:0081100,,OMIM ID:312910 +BMGC_DS13645,BMG_DS052728,Yorifuji Okuno syndrome,UMLS ID:C2931296,"Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | Yorifuji Okuno syndrome",SNOMEDCT ID:722206009,,,pancreatic hypoplasia-diabetes-congenital heart disease syndrome,MONDO:0010802,,MeSH ID:C536714,,,,OMIM ID:600001 +BMGC_DS13646,BMG_DS052731,Combined immunodeficiency due to ZAP70 deficiency,UMLS ID:C2931299,Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) | Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency | Combined immunodeficiency due to ZAP70 deficiency | Combined immunodeficiency due to ZAP70 (Zeta-chain associated protein kinase 70) deficiency,SNOMEDCT ID:716378008,,,,,,,,,, +BMGC_DS13647,BMG_DS052736,Woods Leversha Rogers syndrome,UMLS ID:C2931307,,,,,intrauterine growth retardation with increased mitomycin c sensitivity,MONDO:0010900,,MeSH ID:C536744,,,,OMIM ID:600546 +BMGC_DS13648,BMG_DS052744,T cell immunodeficiency primary,UMLS ID:C2931320,,,,,,,,MeSH ID:C536780,,,, +BMGC_DS13649,BMG_DS052754,Glucose-6-phosphate translocase deficiency,UMLS ID:C2931345,,,,,glycogen storage disease type 1 due to SLC37A4 mutation,MONDO:0023258,,MeSH ID:C536831,,,, +BMGC_DS13650,BMG_DS052757,Familial myelofibrosis,UMLS ID:C2931351,,,,,familial myelofibrosis,MONDO:0023119,,MeSH ID:C536848,,,, +BMGC_DS13651,BMG_DS052760,"Spastic paraplegia 3, autosomal dominant",UMLS ID:C2931355,,,,,hereditary spastic paraplegia 3A,MONDO:0008437,,MeSH ID:C536864,,,,OMIM ID:182600 +BMGC_DS13652,BMG_DS052783,Moyamoya disease 1,UMLS ID:C2931384,,,,,moyamoya disease 1,MONDO:0009649,,MeSH ID:C536991,,,,OMIM ID:252350 +BMGC_DS13653,BMG_DS052793,"Bulbospinal neuronopathy, X-linked recessive",UMLS ID:C2931395,,,,,,,,MeSH ID:C537017,,,, +BMGC_DS13654,BMG_DS052798,Familial lipomyelomeningocele,UMLS ID:C2931400,,,,,,,,MeSH ID:C537030,,,, +BMGC_DS13655,BMG_DS052799,Long QT syndrome type 3,UMLS ID:C2931401,Long QT syndrome type 3 (disorder) | Long QT syndrome type 3,SNOMEDCT ID:1208866002,,,,,,MeSH ID:C537034,,,, +BMGC_DS13656,BMG_DS052813,Bare lymphocyte syndrome 2,UMLS ID:C2931418,,,,,,,,MeSH ID:C537079,,,, +BMGC_DS13657,BMG_DS052815,Brachydactylous dwarfism Mseleni type,UMLS ID:C2931420,Mseleni joint disease | Brachydactylous dwarfism Mseleni type | Brachydactylous dwarfism Mseleni type (disorder),SNOMEDCT ID:715470008,,,"brachydactylous dwarfism, Mseleni type",MONDO:0013232,,MeSH ID:C537086,,,,OMIM ID:613342 +BMGC_DS13658,BMG_DS052819,Orofaciodigital syndrome type1,UMLS ID:C2931426,,,,,,,,MeSH ID:C537134,,,, +BMGC_DS13659,BMG_DS052825,Paraquat lung,UMLS ID:C2931434,,,,,,,,MeSH ID:C537171,,,, +BMGC_DS13660,BMG_DS052831,"Hereditary spastic paralysis, infantile onset ascending",UMLS ID:C2931441,,,,,infantile-onset ascending hereditary spastic paralysis,MONDO:0011797,,MeSH ID:C537217,,,,OMIM ID:607225 +BMGC_DS13661,BMG_DS052845,"Prosopagnosia, hereditary",UMLS ID:C2931455,,,,,"prosopagnosia, hereditary",MONDO:0012484,,MeSH ID:C537242,,,,OMIM ID:610382 +BMGC_DS13662,BMG_DS052846,,UMLS ID:C2931456,,,,,"prostate cancer, hereditary",MONDO:0700275,,,,,,OMIM ID:176807 +BMGC_DS13663,BMG_DS052848,Lynch syndrome I (site-specific colonic cancer),UMLS ID:C2931459,,,,,,,,MeSH ID:C537261,,,, +BMGC_DS13664,BMG_DS052850,Forney Robinson Pascoe syndrome,UMLS ID:C2931461,Cardiospondylocarpofacial syndrome (disorder) | Cardiospondylocarpofacial syndrome | Forney syndrome | Forney Robinson Pascoe syndrome | Mitral regurgitation with deafness and skeletal anomalies syndrome,SNOMEDCT ID:720612000,,,cardiospondylocarpofacial syndrome,MONDO:0008005,,MeSH ID:C537269,,,,OMIM ID:157800 +BMGC_DS13665,BMG_DS052853,Goldblatt Viljoen syndrome,UMLS ID:C2931464,Choanal atresia with radial ray hypoplasia | Choanal atresia with radial ray hypoplasia (disorder) | Goldblatt Viljoen syndrome,SNOMEDCT ID:232373003,,,radial ray hypoplasia-choanal atresia syndrome,MONDO:0008358,,MeSH ID:C537280,,,,OMIM ID:179270 +BMGC_DS13666,BMG_DS052865,Multiple system atrophy (MSA) with orthostatic hypotension,UMLS ID:C2931478,,,,,,,,MeSH ID:C537381,,,, +BMGC_DS13667,BMG_DS052867,"Neurofibromatosis, Type 3, mixed central and peripheral",UMLS ID:C2931480,,,,,"neurofibromatosis, type III, mixed central and peripheral",MONDO:0008080,,MeSH ID:C537389,,,,OMIM ID:162260 +BMGC_DS13668,BMG_DS052869,Neurofibromatosis-Noonan syndrome,UMLS ID:C2931482,,,,,neurofibromatosis-Noonan syndrome,MONDO:0011035,,MeSH ID:C537393,neurofibromatosis-Noonan syndrome,DOID:0111683,,OMIM ID:601321 +BMGC_DS13669,BMG_DS052875,Zlotogora-Ogur syndrome,UMLS ID:C2931488,,,,,cleft lip/palate-ectodermal dysplasia syndrome,MONDO:0009151,,MeSH ID:C536726,,,,OMIM ID:225060 +BMGC_DS13670,BMG_DS052882,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 1",UMLS ID:C2931498,,,,,"intellectual disability, X-linked 1",MONDO:0010656,,,non-syndromic X-linked intellectual disability 1,DOID:0112038,,OMIM ID:309530 | OMIM ID:300522 +BMGC_DS13671,BMG_DS052884,Microphthalmia and mental deficiency,UMLS ID:C2931500,,,,,"microphthalmia, isolated, with coloboma",MONDO:0000170,,MeSH ID:C537462,,,, +BMGC_DS13672,BMG_DS052886,"Microtia, meatal atresia and conductive deafness",UMLS ID:C2931502,,,,,microtia with meatal atresia and conductive deafness,MONDO:0009634,,MeSH ID:C537469,,,,OMIM ID:251800 +BMGC_DS13673,BMG_DS052942,,UMLS ID:C2931574,,,,,deletion 5q35,MONDO:0015571,,,,,, +BMGC_DS13674,BMG_DS052943,Basaran Yilmaz syndrome,UMLS ID:C2931577,,,,,Basaran Yilmaz syndrome,MONDO:0021979,,MeSH ID:C537660,,,, +BMGC_DS13675,BMG_DS052949,Gaucher-like disease,UMLS ID:C2931585,Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) | Gaucher disease with ophthalmoplegia and cardiovascular calcification | Gaucher's disease type 3C | Gaucher-like disease | Cardiovascular Gaucher disease,SNOMEDCT ID:1156813002,,,,,,MeSH ID:C537675,,,, +BMGC_DS13676,BMG_DS052980,"Chromosome 8, monosomy 8p23 1",UMLS ID:C2931638,,,,,8p23.1 microdeletion syndrome,MONDO:0016658,,MeSH ID:C537827,,,, +BMGC_DS13677,BMG_DS052984,O'Donnell Pappas syndrome,UMLS ID:C2931644,O'Donnell Pappas syndrome | Foveal hypoplasia with presenile cataract syndrome | Foveal hypoplasia with presenile cataract syndrome (disorder),SNOMEDCT ID:778042000,,,foveal hypoplasia-presenile cataract syndrome,MONDO:0016395,,MeSH ID:C537858,,,, +BMGC_DS13678,BMG_DS052987,Laplane Fontaine Lagardere syndrome,UMLS ID:C2931647,,,,,syndesmodysplasic dwarfism,MONDO:0010093,,MeSH ID:C537869,,,,OMIM ID:272450 +BMGC_DS13679,BMG_DS052988,"Larsen syndrome, dominant type",UMLS ID:C2931648,,,,,,,,MeSH ID:C537873,,,, +BMGC_DS13680,BMG_DS052996,Phacomatosis pigmentokeratotica,UMLS ID:C2931658,,,,,phakomatosis pigmentokeratotica,MONDO:0017317,,MeSH ID:C537893,,,, +BMGC_DS13681,BMG_DS053000,Baraitser Brett Piesowicz syndrome,UMLS ID:C2931662,"Congenital intrauterine infection-like syndrome (disorder) | Congenital intrauterine infection-like syndrome | Baraitser Brett Piesowicz syndrome | Bilateral band-like calcification with polymicrogyria | Microcephaly, intracranial calcification, intellectual disability syndrome | Pseudo-TORCH syndrome",SNOMEDCT ID:722390006,,,,,,MeSH ID:C537905,,,, +BMGC_DS13682,BMG_DS053007,"Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",UMLS ID:C2931672,,,,,"ABeta amyloidosis, dutch type",MONDO:0015033,,MeSH ID:C537944,,,, +BMGC_DS13683,BMG_DS053008,"Ceroid lipofuscinosis, neuronal 1, infantile",UMLS ID:C2931673,,,,,,,,MeSH ID:C537948,,,, +BMGC_DS13684,BMG_DS053015,"Camurati Engelmann disease, type 2",UMLS ID:C2931683,,,,,"Camurati-Engelmann disease, type 2",MONDO:0011690,,MeSH ID:C537978,,,,OMIM ID:606631 +BMGC_DS13685,BMG_DS053018,"Charcot-Marie-Tooth disease, Type 1E",UMLS ID:C2931686,,,,,,,,MeSH ID:C537986,,,, +BMGC_DS13686,BMG_DS053019,Dysferlinopathy,UMLS ID:C2931687,,,,,qualitative or quantitative defects of dysferlin,MONDO:0016145,,MeSH ID:C537995,,,ICD10 ID:G71.033, +BMGC_DS13687,BMG_DS053020,,UMLS ID:C2931689,,,,,myotonic dystrophy type 2,MONDO:0011266,,,,,,OMIM ID:602668 +BMGC_DS13688,BMG_DS053031,"Deafness, autosomal dominant nonsyndromic sensorineural 17",UMLS ID:C2931716,,,,,,,,MeSH ID:C538050,,,, +BMGC_DS13689,BMG_DS053035,Fronto-facio-nasal dysplasia,UMLS ID:C2931720,Frontofacionasal dysplasia syndrome (disorder) | Frontofacionasal dysplasia syndrome | Gollop syndrome | Fronto-facio-nasal dysplasia,SNOMEDCT ID:716022002,,,frontofacionasal dysplasia,MONDO:0009247,,MeSH ID:C538063,,,,OMIM ID:229400 +BMGC_DS13690,BMG_DS053050,Lactate dehydrogenase deficiency type A,UMLS ID:C2931743,,,,,glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,MONDO:0013047,,MeSH ID:C538133,,,,OMIM ID:612933 +BMGC_DS13691,BMG_DS053053,Sulfocysteinuria,UMLS ID:C2931746,Sulfite oxidase deficiency syndrome | Sulfocysteinuria | Sulphocysteinuria | Sulphite oxidase deficiency syndrome | Sulfite oxidase deficiency syndrome (disorder),SNOMEDCT ID:40873003,,,,,,MeSH ID:C538141,isolated sulfite oxidase deficiency,DOID:0111270,, +BMGC_DS13692,BMG_DS053062,Acquired angioedema,UMLS ID:C2931758,,,,,acquired angioedema,MONDO:0019624,,MeSH ID:C538173,acquired angioedema,DOID:0080941,, +BMGC_DS13693,BMG_DS053066,Acrofacial dysostosis Catania form,UMLS ID:C2931762,,,,,"acrofacial dysostosis, Catania type",MONDO:0007045,,MeSH ID:C538182,"acrofacial dysostosis, Catania type",DOID:0060384,,OMIM ID:101805 +BMGC_DS13694,BMG_DS053071,"Deafness, autosomal dominant nonsyndromic sensorineural 22",UMLS ID:C2931767,,,,,autosomal dominant nonsyndromic hearing loss 22,MONDO:0011660,,MeSH ID:C538197,,,,OMIM ID:606346 +BMGC_DS13695,BMG_DS053082,Adenosine monophosphate deaminase deficiency,UMLS ID:C2931781,,,,,adenosine monophosphate deaminase deficiency,MONDO:0013028,,MeSH ID:C538234,,,, +BMGC_DS13696,BMG_DS053083,Amelogenesis imperfecta nephrocalcinosis,UMLS ID:C2931783,,,,,amelogenesis imperfecta type 1G,MONDO:0008771,,MeSH ID:C538241,,,,OMIM ID:204690 | OMIM ID:614253 +BMGC_DS13697,BMG_DS053084,Amyloid angiopathy,UMLS ID:C2931784,,,,,,,,MeSH ID:C538248,,,, +BMGC_DS13698,BMG_DS053085,"Amyotrophic lateral sclerosis, type 6",UMLS ID:C2931786,,,,,amyotrophic lateral sclerosis type 6,MONDO:0011951,,MeSH ID:C538251,,,,OMIM ID:608030 +BMGC_DS13699,BMG_DS053086,,UMLS ID:C2931787,,,,,familial atrial myxoma,MONDO:0009719,,,,,,OMIM ID:255960 +BMGC_DS13700,BMG_DS053087,Atypical Hemolytic Uremic Syndrome,UMLS ID:C2931788,,,,,atypical hemolytic-uremic syndrome,MONDO:0016244,Atypical Hemolytic Uremic Syndrome,MeSH ID:D065766,atypical hemolytic-uremic syndrome,DOID:0080301,, +BMGC_DS13701,BMG_DS053098,,UMLS ID:C2931816,,,,,2q24 microdeletion syndrome,MONDO:0015566,,,,,, +BMGC_DS13702,BMG_DS053099,Chromosome 2q37 deletion syndrome,UMLS ID:C2931817,Chromosome 2q37 deletion syndrome | 2q37 deletion syndrome | Chromosome 2q37 deletion syndrome (disorder) | Brachydactyly mental retardation syndrome | Albright hereditary osteodystrophy-like syndrome,SNOMEDCT ID:702357000,,,2q37 microdeletion syndrome,MONDO:0010886,,MeSH ID:C538317,chromosome 2q37 deletion syndrome,DOID:0111704,,OMIM ID:600430 +BMGC_DS13703,BMG_DS053103,Nakamura Osame syndrome,UMLS ID:C2931821,"Autosomal recessive spastic paraplegia type 11 (disorder) | Autosomal recessive spastic paraplegia type 11 | Nakamura Osame syndrome | Spastic paraplegia, intellectual disability and thin corpus callosum",SNOMEDCT ID:715491000,,,,,,MeSH ID:C538335,,,, +BMGC_DS13704,BMG_DS053104,,UMLS ID:C2931822,,,,,nasopharyngeal carcinoma,MONDO:0015459,,,,,, +BMGC_DS13705,BMG_DS053108,Potassium aggravated myotonia,UMLS ID:C2931826,Potassium aggravated myotonia (disorder) | Potassium aggravated myotonia | Sodium channel myotonia,SNOMEDCT ID:702355008,,,potassium-aggravated myotonia,MONDO:0018959,,MeSH ID:C538353,,,,OMIM ID:608390 +BMGC_DS13706,BMG_DS053112,MacKay Shek Carr syndrome,UMLS ID:C2931831,,,,,retinal degeneration-nanophthalmos-glaucoma syndrome,MONDO:0009978,,MeSH ID:C538364,,,,OMIM ID:267760 +BMGC_DS13707,BMG_DS053113,,UMLS ID:C2931832,,,,,"hyperinsulinemic hypoglycemia, familial, 1",MONDO:0009734,,,,,,OMIM ID:256450 +BMGC_DS13708,BMG_DS053114,,UMLS ID:C2931833,,,,,"hyperinsulinemic hypoglycemia, familial, 2",MONDO:0011153,,,,,,OMIM ID:601820 +BMGC_DS13709,BMG_DS053115,Hyperprolinemia type 2,UMLS ID:C2931835,Hyperprolinemia type 2 (disorder) | Hyperprolinemia type 2 | Hyperprolinaemia type 2 | Hyperprolinemia type II | Hyperprolinaemia type II,SNOMEDCT ID:717181004,,,hyperprolinemia type 2,MONDO:0009401,,MeSH ID:C538385,hyperprolinemia type 2,DOID:0080543,,OMIM ID:239510 +BMGC_DS13710,BMG_DS053116,Familial hypertryptophanemia,UMLS ID:C2931837,Familial hypertryptophanemia (disorder) | Familial hypertryptophanemia | Familial hypertryptophanaemia,SNOMEDCT ID:721838005,,,familial hypertryptophanemia,MONDO:0010907,,,familial hypertryptophanemia,DOID:0111703,,OMIM ID:600627 +BMGC_DS13711,BMG_DS053117,Familial HDL deficiency,UMLS ID:C2931838,Familial hypoalphalipoproteinemia | Familial HDL deficiency | Familial high density lipoprotein deficiency | Alphalipoproteinemia neuropathy | Cholesterol thesaurismosis | Analphalipoproteinemia | Familial hypoalphalipoproteinaemia | Analphaliproteinaemia | A - alphalipoproteinaemia neuropathy | A - alphalipoproteinemia neuropathy | Analphaliproteinemia | Alphalipoproteinaemia neuropathy | Analphalipoproteinaemia | Familial hypoalphalipoproteinemia (disorder),SNOMEDCT ID:15346004,,,,,,,,,, +BMGC_DS13712,BMG_DS053121,Spinal muscular atrophy 4,UMLS ID:C2931844,,,,,,,,MeSH ID:C538417,,,, +BMGC_DS13713,BMG_DS053122,Neurodegeneration with brain iron accumulation (NBIA),UMLS ID:C2931845,,,,,neurodegeneration with brain iron accumulation,MONDO:0018307,,MeSH ID:C538421,neurodegeneration with brain iron accumulation,DOID:0110734,, +BMGC_DS13714,BMG_DS053127,Aase Smith syndrome 2,UMLS ID:C2931850,,,,,Diamond-Blackfan anemia 6,MONDO:0012937,,MeSH ID:C538442,Diamond-Blackfan anemia 6,DOID:0111879,,OMIM ID:612561 +BMGC_DS13715,BMG_DS053138,Familial schizencephaly,UMLS ID:C2931870,,,,,familial schizencephaly,MONDO:0018829,,MeSH ID:C538514,,,, +BMGC_DS13716,BMG_DS053140,Free sialic acid storage disease,UMLS ID:C2931872,,,,,free sialic acid storage disease,MONDO:0019366,,MeSH ID:C538523,,,, +BMGC_DS13717,BMG_DS053143,Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells,UMLS ID:C2931875,,,,,Hermansky-Pudlak syndrome 1,MONDO:0008748,,MeSH ID:C538539,,,,OMIM ID:203300 +BMGC_DS13718,BMG_DS053149,"Reticuloendotheliosis, familial, with eosinophilia",UMLS ID:C2931884,,,,,,,,MeSH ID:C538564,,,, +BMGC_DS13719,BMG_DS053152,Pfeiffer type acrocephalosyndactyly,UMLS ID:C2931888,,,,,,,,MeSH ID:C538582,,,, +BMGC_DS13720,BMG_DS053155,"Necrotizing encephalopathy, infantile subacute, of Leigh",UMLS ID:C2931891,,,,,Leigh syndrome,MONDO:0009723,,MeSH ID:C538590,,,,OMIM ID:256000 +BMGC_DS13721,BMG_DS053163,Limb-girdle muscular dystrophy autosomal recessive,UMLS ID:C2931907,,,,,autosomal recessive limb-girdle muscular dystrophy,MONDO:0015152,,MeSH ID:C538640,,,, +BMGC_DS13722,BMG_DS053175,Hyperkeratosis of the palms and soles and esophageal papillomas,UMLS ID:C2931923,,,,,focal palmoplantar keratoderma,MONDO:0017672,,MeSH ID:C538682,focal nonepidermolytic palmoplantar keratoderma,DOID:0111708,, +BMGC_DS13723,BMG_DS053178,Mitochondrial cytopathy,UMLS ID:C2931928,Mitochondrial cytopathy | Mitochondrial cytopathy (disorder) | Mitochondrial disease,SNOMEDCT ID:240096000,,,,,,MeSH ID:C540770,,,, +BMGC_DS13724,BMG_DS053182,Gestational Diabetes Insipidus,UMLS ID:C2932666,,,,,gestational diabetes insipidus,MONDO:0023227,,MeSH ID:C548014,gestational diabetes insipidus,DOID:0081057,, +BMGC_DS13725,BMG_DS053184,Inherited Peripheral Neuropathy,UMLS ID:C2932678,,,,,,,,MeSH ID:C548028,,,, +BMGC_DS13726,BMG_DS053187,Pontocerebellar Hypoplasia Type 2,UMLS ID:C2932714,,,,,pontocerebellar hypoplasia type 2,MONDO:0016759,,MeSH ID:C548070,pontocerebellar hypoplasia type 2,DOID:0112328,, +BMGC_DS13727,BMG_DS053188,Pseudohypoparathyroidism Type 1C,UMLS ID:C2932716,,,,,pseudohypoparathyroidism type 1C,MONDO:0012911,,MeSH ID:C548076,,,,OMIM ID:612462 +BMGC_DS13728,BMG_DS053189,Pseudohypoparathyroidism Type 2,UMLS ID:C2932717,,,,,pseudohypoparathyroidism type 2,MONDO:0008749,,MeSH ID:C548077,,,,OMIM ID:203330 +BMGC_DS13729,BMG_DS053199,Sarcoglycanopathies,UMLS ID:C2936331,,,,,sarcoglycanopathy,MONDO:0016140,Sarcoglycanopathies,MeSH ID:D058088,,,, +BMGC_DS13730,BMG_DS053200,Alpha-Sarcoglycanopathies,UMLS ID:C2936332,,,,,autosomal recessive limb-girdle muscular dystrophy type 2D,MONDO:0011968,Sarcoglycanopathies,MeSH ID:D058088,,,,OMIM ID:608099 +BMGC_DS13731,BMG_DS053201,22q11 Deletion Syndrome,UMLS ID:C2936346,,,,,,,22q11 Deletion Syndrome,MeSH ID:D058165,,,, +BMGC_DS13732,BMG_DS053202,"46, XX Disorders of Sex Development",UMLS ID:C2936403,,,,,"46,XX disorder of sex development",MONDO:0017576,"46, XX Disorders of Sex Development",MeSH ID:D058489,,,, +BMGC_DS13733,BMG_DS053203,alpha-Dystroglycanopathies,UMLS ID:C2936406,,,,,qualitative or quantitative defects of alpha-dystroglycan,MONDO:0018282,Walker-Warburg Syndrome,MeSH ID:D058494,Walker-Warburg syndrome,DOID:0050560,, +BMGC_DS13734,BMG_DS053204,"46, XX Testicular Disorders of Sex Development",UMLS ID:C2936419,,,,,"46,XX testicular disorder of sex development",MONDO:0100249,"46, XX Testicular Disorders of Sex Development",MeSH ID:D058531,"46,XX sex reversal",DOID:0111760,, +BMGC_DS13735,BMG_DS053207,Pyogenic Sacroiliitis,UMLS ID:C2936444,,,,,,,Sacroiliitis,MeSH ID:D058566,,,, +BMGC_DS13736,BMG_DS053208,Septic Sacroiliitis,UMLS ID:C2936445,,,,,,,Sacroiliitis,MeSH ID:D058566,,,, +BMGC_DS13737,BMG_DS053210,Chronic Liver Failure,UMLS ID:C2936476,,,,,chronic liver failure,MONDO:0100193,End Stage Liver Disease,MeSH ID:D058625,,,, +BMGC_DS13738,BMG_DS053211,Familial CHARGE Syndrome,UMLS ID:C2936502,,,,,,,CHARGE Syndrome,MeSH ID:D058747,CHARGE syndrome,DOID:0050834,, +BMGC_DS13739,BMG_DS053215,Acquired Hypogammaglobulinemia,UMLS ID:C2936664,,,,,,,Common Variable Immunodeficiency,MeSH ID:D017074,,,, +BMGC_DS13740,BMG_DS053216,"Immunoglobulin Deficiency, Late-Onset",UMLS ID:C2936665,,,,,,,Common Variable Immunodeficiency,MeSH ID:D017074,,,, +BMGC_DS13741,BMG_DS053217,Swyer Syndrome,UMLS ID:C2936694,,,,,"46,XY complete gonadal dysgenesis",MONDO:0010765,"Gonadal Dysgenesis, 46,XY",MeSH ID:D006061,,,, +BMGC_DS13742,BMG_DS053219,Familial Kleine-Levin Syndrome,UMLS ID:C2936703,,,,,,,Kleine-Levin Syndrome,MeSH ID:D017593,Kleine-Levin syndrome,DOID:0060165,, +BMGC_DS13743,BMG_DS053220,"Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",UMLS ID:C2936739,,,,,,,Job Syndrome,MeSH ID:D007589,hyper IgE recurrent infection syndrome 1,DOID:3261,, +BMGC_DS13744,BMG_DS053221,"48,XXYY Syndrome",UMLS ID:C2936741,,,,,"48,XXYY syndrome",MONDO:0015028,Klinefelter Syndrome,MeSH ID:D007713,,,, +BMGC_DS13745,BMG_DS053223,,UMLS ID:C2936755,,,,,,,,,lymphoplasmacytic lymphoma,DOID:0060901,, +BMGC_DS13746,BMG_DS053224,Nevo syndrome,UMLS ID:C2936777,,,,,,,,MeSH ID:C536113,,,, +BMGC_DS13747,BMG_DS053226,Hydroxymethylbilane Synthase Deficiency,UMLS ID:C2936779,,,,,,,"Porphyria, Acute Intermittent",MeSH ID:D017118,,,, +BMGC_DS13748,BMG_DS053227,Generalized Myotonia of Thomsen,UMLS ID:C2936781,,,,,"Thomsen and Becker disease | myotonia congenita, autosomal dominant",MONDO:0009710;MONDO:0008055,Myotonia Congenita,MeSH ID:D009224,,,,OMIM ID:160800 +BMGC_DS13749,BMG_DS053228,,UMLS ID:C2936783,,,,,Lynch syndrome 1,MONDO:0007356,,,Lynch syndrome 1,DOID:0070271,,OMIM ID:120435 +BMGC_DS13750,BMG_DS053229,"Antley-Bixler Syndrome, Autosomal Dominant",UMLS ID:C2936791,,,,,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MONDO:0020667,Antley-Bixler Syndrome Phenotype,MeSH ID:D054882,,,,OMIM ID:207410 +BMGC_DS13751,BMG_DS053230,Spinocerebellar ataxia 30,UMLS ID:C2936793,,,,,spinocerebellar ataxia type 30,MONDO:0013241,,MeSH ID:C575214,,,,OMIM ID:613371 +BMGC_DS13752,BMG_DS053232,,UMLS ID:C2936826,,,,,,,,,fumarase deficiency,DOID:0111261,, +BMGC_DS13753,BMG_DS053233,Focal facial dermal dysplasia,UMLS ID:C2936827,Goltz syndrome | Focal dermal hypoplasia syndrome | Goltz-Gorlin syndrome | Goltz syndrome (disorder) | Goltz-Gorlin (dermal hypoplasia) syndrome | Goltz Gorlin syndrome | Focal facial dermal dysplasia (disorder) | Focal facial dermal dysplasia | FFDD - focal facial dermal dysplasia,SNOMEDCT ID:2298005 | SNOMEDCT ID:789156003,,,focal facial dermal dysplasia,MONDO:0018363,,,,,, +BMGC_DS13754,BMG_DS053234,Keratosis of Greither,UMLS ID:C2936837,,,,,"palmoplantar keratoderma, epidermolytic, 2",MONDO:0957303,"Keratoderma, Palmoplantar, Epidermolytic",MeSH ID:D053546,,,,OMIM ID:620411 +BMGC_DS13755,BMG_DS053238,Congenital adrenal hyperplasia due to 21 hydroxylase deficiency,UMLS ID:C2936858,,,,,classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,MONDO:0008728,,MeSH ID:C535979,,,,OMIM ID:201910 +BMGC_DS13756,BMG_DS053239,N syndrome,UMLS ID:C2936859,N syndrome (disorder) | N syndrome,SNOMEDCT ID:723410002,,,N syndrome,MONDO:0010686,,MeSH ID:C536108,N syndrome,DOID:0050769,,OMIM ID:310465 +BMGC_DS13757,BMG_DS053240,"Spastic paraplegia 25, autosomal recessive",UMLS ID:C2936860,,,,,hereditary spastic paraplegia 25,MONDO:0011992,,MeSH ID:C536861,,,,OMIM ID:608220 +BMGC_DS13758,BMG_DS053241,Bardet-Biedl syndrome 1,UMLS ID:C2936862,,,,,Bardet-Biedl syndrome 1,MONDO:0008854,,MeSH ID:C537909,Bardet-Biedl syndrome 1,DOID:0110123,,OMIM ID:209900 +BMGC_DS13759,BMG_DS053242,Bardet-Biedl syndrome 2,UMLS ID:C2936863,,,,,Bardet-Biedl syndrome 2,MONDO:0014432,,MeSH ID:C537910,Bardet-Biedl syndrome 2,DOID:0110124,,OMIM ID:615981 +BMGC_DS13760,BMG_DS053243,Bardet-Biedl syndrome 4,UMLS ID:C2936864,,,,,Bardet-Biedl syndrome 4,MONDO:0014433,,MeSH ID:C537912,Bardet-Biedl syndrome 4,DOID:0110126,,OMIM ID:615982 +BMGC_DS13761,BMG_DS053245,"SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT",UMLS ID:C2936879,,,,,hereditary spastic paraplegia 36,MONDO:0013132,,,,,,OMIM ID:613096 +BMGC_DS13762,BMG_DS053246,"Spastic Paraplegia 37, Autosomal Dominant",UMLS ID:C2936880,,,,,hereditary spastic paraplegia 37,MONDO:0012766,,MeSH ID:C567931,,,,OMIM ID:611945 +BMGC_DS13763,BMG_DS053250,"Opitz GBBB Syndrome, X-Linked",UMLS ID:C2936904,,,,,X-linked Opitz G/BBB syndrome,MONDO:0010222,,MeSH ID:C567932,,,,OMIM ID:300000 +BMGC_DS13764,BMG_DS053252,Cross syndrome,UMLS ID:C2936910,Cross syndrome | Oculocerebral-hypopigmentation syndrome | Cross syndrome (disorder) | Oculocerebral hypopigmentation syndrome Cross type | Kramer syndrome,SNOMEDCT ID:17827007,,,"oculocerebral hypopigmentation syndrome, Cross type",MONDO:0009767,,MeSH ID:C537866,,,ICD10 ID:E70.328,OMIM ID:257800 +BMGC_DS13765,BMG_DS053259,Chronic ulcerative proctitis,UMLS ID:C2937222,Chronic ulcerative proctitis | UC - Ulcerative colitis confined to rectum | Ulcerative colitis confined to rectum | Idiopathic proctitis | IP - Idiopathic proctitis | Chronic ulcerative proctitis (disorder),SNOMEDCT ID:52231000,,,,,,,,,, +BMGC_DS13766,BMG_DS053262,Biotin deficiency disease,UMLS ID:C2937225,Biotin deficiency disease | Biotin deficiency disease (disorder),SNOMEDCT ID:49607006,,,biotin metabolic disease,MONDO:0020699,,,,,, +BMGC_DS13767,BMG_DS053267,,UMLS ID:C2937245,,,,,spinal cord glioma,MONDO:0002542,,,spinal cord glioma,DOID:3185,, +BMGC_DS13768,BMG_DS053273,"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",UMLS ID:C2937288,,,,,"thyroid hormone resistance, generalized, autosomal dominant",MONDO:0008569,,,,,,OMIM ID:188570 | OMIM ID:190160 +BMGC_DS13769,BMG_DS053274,Congenital hereditary muscular dystrophy,UMLS ID:C2937300,Congenital hereditary muscular dystrophy | Congenital hereditary muscular dystrophy (disorder),SNOMEDCT ID:193221009 | SNOMEDCT ID:111501005,,,,,,,congenital muscular dystrophy,DOID:0050557,, +BMGC_DS13770,BMG_DS053275,,UMLS ID:C2937358,,,,,intracerebral hemorrhage,MONDO:0013792,,,,,, +BMGC_DS13771,BMG_DS053276,Recurrent aphthous ulcer,UMLS ID:C2937365,Recurrent aphthous ulcer | Periadenitis mucosa necrotica recurrens | Sutton's disease | Recurring scarring aphthae | Mikulicz's aphthae | Recurrent aphthous stomatitis | Aphthae major | RAS - Recurrent aphthous stomatitis | Recurrent aphthous ulceration | Recurrent aphthous ulcer (disorder) | Recurrent aphthous ulcer (disorder) | Recurrent aphthous ulcer | Recurrent aphthous ulceration,SNOMEDCT ID:80244009 | SNOMEDCT ID:398870000,Oral aphthae or aphthalike ulceration,ICD11 ID:DA01.10,canker sore,MONDO:0005318,,,,,ICD10 ID:K12.0, +BMGC_DS13772,BMG_DS053293,Meconium ileus,UMLS ID:C2939175,Meconium ileus | Meconium obstruction | Meconium ileus (disorder) | Cystic fibrosis with meconium ileus | Meconium obstruction of intestine in mucoviscidosis | Meconium ileus of the newborn | Cystic fibrosis with meconium ileus (disorder) | Meconium ileus in cystic fibrosis | Meconium ileus | Meconium ileus (disorder),SNOMEDCT ID:206523001 | SNOMEDCT ID:86092005 | SNOMEDCT ID:157154006,,,meconium ileus,MONDO:0054868,,,,,, +BMGC_DS13773,BMG_DS053310,,UMLS ID:C2939461,,,,,myeloid neoplasm,MONDO:0005170,,,,,, +BMGC_DS13774,BMG_DS053311,Deficiency of glucose-6-phosphate dehydrogenase,UMLS ID:C2939465,Deficiency of glucose-6-phosphate dehydrogenase | Deficiency of glucose-6-phosphate dehydrogenase (disorder) | Deficiency of G-6PD (glucose-6-phosphate dehydrogenase) | G6PD - glucose-6-phosphate dehydrogenase deficiency,SNOMEDCT ID:124134002,,,G6PD deficiency,MONDO:0005775,,,glucosephosphate dehydrogenase deficiency,DOID:2862,, +BMGC_DS13775,BMG_DS053315,Thyroid Hormone Resistance Syndrome,UMLS ID:C2940786,,,,,thyroid hormone resistance syndrome,MONDO:0001328,Thyroid Hormone Resistance Syndrome,MeSH ID:D018382,thyroid hormone resistance syndrome,DOID:11633,, +BMGC_DS13776,BMG_DS053327,Limb ischemia,UMLS ID:C2945695,Limb ischaemia | Limb ischemia | Limb ischemia (disorder),SNOMEDCT ID:21631000119105,,,limb ischemia,MONDO:0000491,,,,,, +BMGC_DS13777,BMG_DS053347,Infection caused by carbapenem resistant Acinetobacter,UMLS ID:C2959527,Infection caused by carbapenem resistant Acinetobacter (disorder) | Infection caused by carbapenem resistant Acinetobacter,SNOMEDCT ID:445780006,,,,,,,,,, +BMGC_DS13778,BMG_DS053390,Fungal septicemia,UMLS ID:C2960008,Septicemia due to fungus (disorder) | Fungal septicaemia | Fungal septicemia | Septicaemia due to fungus | Septicemia due to fungus,SNOMEDCT ID:446903007,,,,,,,,,, +BMGC_DS13779,BMG_DS053397,Hemoglobin H constant spring thalassemia,UMLS ID:C2960096,Hemoglobin H constant spring thalassemia (disorder) | Haemoglobin H constant spring thalassaemia | Hemoglobin H constant spring thalassemia,SNOMEDCT ID:447117006,,,,,,,,,, +BMGC_DS13780,BMG_DS053408,,UMLS ID:C2960310,,,,,alveolar capillary dysplasia with misalignment of pulmonary veins,MONDO:0009934,,,,,,OMIM ID:265380 +BMGC_DS13781,BMG_DS053436,Dentinogenesis imperfecta without osteogenesis imperfecta,UMLS ID:C2973527,Hereditary opalescent dentine | Dentinogenesis imperfecta without osteogenesis imperfecta | Dentinogenesis imperfecta - Shield's type II | Dentinogenesis imperfecta - Shield's type II (disorder) | Capdepont teeth,SNOMEDCT ID:234969005,,,dentinogenesis imperfecta type 2,MONDO:0007441,,,,,,OMIM ID:125490 +BMGC_DS13782,BMG_DS053439,Pulmonary arterial hypertension,UMLS ID:C2973725,Pulmonary hypertensive arterial disease | Hypertensive pulmonary arterial disease | Pulmonary hypertensive arterial disease (disorder) | Pulmonary arterial hypertension,SNOMEDCT ID:11399002,,,pulmonary arterial hypertension,MONDO:0015924,,,,,,OMIM ID:MTHU037923 +BMGC_DS13783,BMG_DS053440,Coxiella burnetii Infection,UMLS ID:C2973787,,,,,,,Q Fever,MeSH ID:D011778,,,, +BMGC_DS13784,BMG_DS053519,Superficial mycosis,UMLS ID:C2980104,Dermatophytosis | Tinea | Ringworm | Microsporic tinea | Dermatophytosis (disorder) | Superficial mycosis | Superficial mycosis (disorder),SNOMEDCT ID:47382004 | SNOMEDCT ID:276206000,,,superficial mycosis,MONDO:0024268,,,superficial mycosis,DOID:0050133,, +BMGC_DS13785,BMG_DS053524,Glaucoma of childhood,UMLS ID:C2981140,Glaucoma of childhood | Glaucoma of childhood (disorder) | Glaucoma of childhood | Infantile glaucoma | Juvenile glaucoma | Developmental glaucoma | Glaucoma of childhood (disorder),SNOMEDCT ID:193541000 | SNOMEDCT ID:71111008,"Developmental glaucoma, unspecified",ICD11 ID:9C61.4Z,juvenile open angle glaucoma,MONDO:0020367,,,,,ICD10 ID:Q15.0, +BMGC_DS13786,BMG_DS053526,,UMLS ID:C2981150,,,,,cleft palate,MONDO:0016064,,,,,, +BMGC_DS13787,BMG_DS053531,,UMLS ID:C2985219,,,,,papillary tumor of the pineal region,MONDO:0016724,,,,,, +BMGC_DS13788,BMG_DS053532,Fetal Alcohol Spectrum Disorders,UMLS ID:C2985290,,,,,fetal alcohol spectrum disorder,MONDO:0000408,Fetal Alcohol Spectrum Disorders,MeSH ID:D063647,,,, +BMGC_DS13789,BMG_DS053533,Rhabdoid tumor predisposition syndrome,UMLS ID:C2985524,Rhabdoid tumour predisposition syndrome | Rhabdoid tumor predisposition syndrome | Rhabdoid tumor predisposition syndrome (disorder) | Familial rhabdoid tumor | Familial rhabdoid tumour,SNOMEDCT ID:772130002,,,familial rhabdoid tumor,MONDO:0016473,,,rhabdoid tumor predisposition syndrome,DOID:0070617,, +BMGC_DS13790,BMG_DS053539,,UMLS ID:C2986658,,,,,diffuse intrinsic pontine glioma,MONDO:0006033,,,,,, +BMGC_DS13791,BMG_DS053540,Congenital Bone Marrow Failure Syndromes,UMLS ID:C2986691,,,,,,,Congenital Bone Marrow Failure Syndromes,MeSH ID:D000080984,,,, +BMGC_DS13792,BMG_DS053541,,UMLS ID:C2986703,,,,,overgrowth syndrome,MONDO:0019716,,,,,, +BMGC_DS13793,BMG_DS053551,,UMLS ID:C3146244,,,,,alcohol-related birth defect,MONDO:0000395,,,,,, +BMGC_DS13794,BMG_DS053552,"DEAFNESS, AUTOSOMAL RECESSIVE 76",UMLS ID:C3147083,,,,,autosomal recessive nonsyndromic hearing loss 76,MONDO:0014237,,,,,,OMIM ID:615540 | OMIM ID:615535 +BMGC_DS13795,BMG_DS053553,"DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY",UMLS ID:C3148751,,,,,,,,,,,,OMIM ID:603324 +BMGC_DS13796,BMG_DS053554,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",UMLS ID:C3148763,,,,,,,,,,,,OMIM ID:603511 +BMGC_DS13797,BMG_DS053555,"WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS",UMLS ID:C3148823,,,,,,,,,hypotrichosis 7,DOID:0110704,,OMIM ID:607365 | OMIM ID:604379 +BMGC_DS13798,BMG_DS053556,WH/HT,UMLS ID:C3148824,,,,,,,,,hypotrichosis 7,DOID:0110704,,OMIM ID:604379 +BMGC_DS13799,BMG_DS053557,"FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",UMLS ID:C3148872,,,,,,,,,amyotrophic lateral sclerosis type 10,DOID:0060201,,OMIM ID:605078 | OMIM ID:612069 +BMGC_DS13800,BMG_DS053558,"USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC",UMLS ID:C3148929,,,,,,,,,,,,OMIM ID:602851 | OMIM ID:612971 +BMGC_DS13801,BMG_DS053560,"DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY",UMLS ID:C3149009,,,,,,,,,,,,OMIM ID:606346 +BMGC_DS13802,BMG_DS053561,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1",UMLS ID:C3149074,,,,,"seizures, benign familial neonatal, 1",MONDO:0007365,,,,,,OMIM ID:121200 | OMIM ID:602235 +BMGC_DS13803,BMG_DS053562,"SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",UMLS ID:C3149075,,,,,,,,,,,,OMIM ID:121200 | OMIM ID:602235 +BMGC_DS13804,BMG_DS053563,"GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",UMLS ID:C3149117,,,,,,,,,,,,OMIM ID:138140 | OMIM ID:606777 +BMGC_DS13805,BMG_DS053564,"PARASOMNIA, SLEEPTALKING TYPE",UMLS ID:C3149124,,,,,,,,,,,,OMIM ID:606840 +BMGC_DS13806,BMG_DS053567,"CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB",UMLS ID:C3149276,,,,,"chromosome 16p12.1 deletion syndrome, 520kb",MONDO:0007631,,,chromosome 16p12.1 deletion syndrome,DOID:0060399,,OMIM ID:136570 +BMGC_DS13807,BMG_DS053568,"IMMUNODEFICIENCY, COMMON VARIABLE, 1",UMLS ID:C3149378,,,,,"immunodeficiency, common variable, 1",MONDO:0011864,,,common variable immunodeficiency 1,DOID:0081144,,OMIM ID:604558 | OMIM ID:607594 +BMGC_DS13808,BMG_DS053569,"DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",UMLS ID:C3149399,,,,,,,,,,,,OMIM ID:166700 | OMIM ID:607844 +BMGC_DS13809,BMG_DS053570,HYPERALPHALIPOPROTEINEMIA 1,UMLS ID:C3149462,,,,,,,,,,,,OMIM ID:143470 | OMIM ID:118470 +BMGC_DS13810,BMG_DS053571,,UMLS ID:C3149494,,,,,keloid formation,MONDO:0007847,,,,,,OMIM ID:148100 +BMGC_DS13811,BMG_DS053572,"LARYNGOSPASM, SEVERE NEONATAL EPISODIC",UMLS ID:C3149517,,,,,"laryngospasm, severe neonatal episodic",MONDO:0800339,,,,,,OMIM ID:608390 +BMGC_DS13812,BMG_DS053574,"DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT",UMLS ID:C3149566,,,,,,,,,,,,OMIM ID:606351 | OMIM ID:609006 +BMGC_DS13813,BMG_DS053575,"MELORHEOSTOSIS, ISOLATED",UMLS ID:C3149631,,,,,melorheostosis,MONDO:0007970,,,,,,OMIM ID:155950 +BMGC_DS13814,BMG_DS053577,Melorheostosis with Osteopoikilosis,UMLS ID:C3149695,,,,,melorheostosis with osteopoikilosis,MONDO:0015995,,MeSH ID:C563593,,,, +BMGC_DS13815,BMG_DS053579,MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE),UMLS ID:C3149750,,,,,"mitochondrial DNA depletion syndrome, myopathic form",MONDO:0012301,,,,,,OMIM ID:188250 | OMIM ID:609560 +BMGC_DS13816,BMG_DS053580,CHROMOSOME 7q11.23 TRIPLICATION SYNDROME,UMLS ID:C3149767,,,,,,,,,7q11.23 duplication syndrome,DOID:0080926,,OMIM ID:609757 +BMGC_DS13817,BMG_DS053582,POLYCYSTIC KIDNEY DISEASE 1,UMLS ID:C3149841,,,,,polycystic kidney disease 1,MONDO:0008263,,,,,,OMIM ID:601313 | OMIM ID:173900 +BMGC_DS13818,BMG_DS053583,,UMLS ID:C3149907,,,,,"amyotrophic lateral sclerosis, susceptibility to, 13",MONDO:0800224,,,,,, +BMGC_DS13819,BMG_DS053585,"PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL",UMLS ID:C3149931,,,,,palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,MONDO:0012530,,,,,,OMIM ID:610644 +BMGC_DS13820,BMG_DS053586,ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS,UMLS ID:C3150099,,,,,Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,MONDO:0008726,,,Antley-Bixler syndrome with disordered steroidogenesis,DOID:0050462,,OMIM ID:124015 | OMIM ID:201750 +BMGC_DS13821,BMG_DS053587,BARDET-BIEDL SYNDROME 15,UMLS ID:C3150127,,,,,Bardet-Biedl syndrome 15,MONDO:0014443,,,,,,OMIM ID:613580 | OMIM ID:615992 +BMGC_DS13822,BMG_DS053588,"CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",UMLS ID:C3150154,,,,,proximal 16p11.2 microdeletion syndrome,MONDO:0012756,,,"chromosome 16p11.2 deletion syndrome, 593-kb",DOID:0070515,,OMIM ID:611913 +BMGC_DS13823,BMG_DS053589,"IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS",UMLS ID:C3150156,,,,,"lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",MONDO:0012757,,,,,,OMIM ID:611926 +BMGC_DS13824,BMG_DS053590,"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED",UMLS ID:C3150169,,,,,,,,,amyotrophic lateral sclerosis type 10,DOID:0060201,,OMIM ID:612069 +BMGC_DS13825,BMG_DS053591,"FTLD-TDP, TARDBP-RELATED",UMLS ID:C3150171,,,,,,,,,amyotrophic lateral sclerosis type 10,DOID:0060201,,OMIM ID:612069 +BMGC_DS13826,BMG_DS053592,MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE),UMLS ID:C3150172,,,,,,,,,,,,OMIM ID:604712 | OMIM ID:612075 +BMGC_DS13827,BMG_DS053593,"AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE",UMLS ID:C3150207,,,,,"agammaglobulinemia 6, autosomal recessive",MONDO:0012987,,,agammaglobulinemia 6,DOID:0081138,,OMIM ID:612692 +BMGC_DS13828,BMG_DS053594,RETINITIS PIGMENTOSA 53,UMLS ID:C3150208,,,,,retinitis pigmentosa 53,MONDO:0800348,,,,,,OMIM ID:612712 | OMIM ID:608830 +BMGC_DS13829,BMG_DS053595,CHROMOSOME 6q24-q25 DELETION SYNDROME,UMLS ID:C3150215,,,,,chromosome 6q24-q25 deletion syndrome,MONDO:0013025,,,chromosome 6q24-q25 deletion syndrome,DOID:0060424,,OMIM ID:612863 +BMGC_DS13830,BMG_DS053596,COMPLEMENT COMPONENT C1r/C1s DEFICIENCY,UMLS ID:C3150274,,,,,complement component C1r/C1s deficiency,MONDO:0009005,,,,,,OMIM ID:216950 +BMGC_DS13831,BMG_DS053597,COMPLEMENT COMPONENT 2 DEFICIENCY,UMLS ID:C3150275,,,,,complement component 2 deficiency,MONDO:0009006,,,,,,OMIM ID:217000 +BMGC_DS13832,BMG_DS053598,"AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT",UMLS ID:C3150315,,,,,,,,,,,,OMIM ID:225750 | OMIM ID:606609 +BMGC_DS13833,BMG_DS053599,"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",UMLS ID:C3150343,,,,,non-spherocytic hemolytic anemia due to hexokinase deficiency,MONDO:0009340,,,congenital nonspherocytic hemolytic anemia 5,DOID:0051006,,OMIM ID:142600 | OMIM ID:235700 +BMGC_DS13834,BMG_DS053600,"HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",UMLS ID:C3150344,,,,,,,,,,,,OMIM ID:236200 | OMIM ID:613381 +BMGC_DS13835,BMG_DS053602,"IMMUNODEFICIENCY, COMMON VARIABLE, 2",UMLS ID:C3150354,,,,,"immunodeficiency, common variable, 2",MONDO:0009413,,,common variable immunodeficiency 2,DOID:0081145,,OMIM ID:240500 | OMIM ID:604907 +BMGC_DS13836,BMG_DS053604,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2",UMLS ID:C3150411,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",MONDO:0013154,,,congenital muscular dystrophy-dystroglycanopathy type A2,DOID:0111240,,OMIM ID:607439 | OMIM ID:613150 +BMGC_DS13837,BMG_DS053605,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 3",UMLS ID:C3150412,,,,,"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",MONDO:0013155,,,muscular dystrophy-dystroglycanopathy type B3,DOID:0112378,,OMIM ID:606822 | OMIM ID:613151 +BMGC_DS13838,BMG_DS053606,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5",UMLS ID:C3150413,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",MONDO:0013157,,,congenital muscular dystrophy-dystroglycanopathy type A5,DOID:0111241,,OMIM ID:606596 | OMIM ID:613153 +BMGC_DS13839,BMG_DS053607,,UMLS ID:C3150414,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6",MONDO:0013158,,,,,,OMIM ID:613154 +BMGC_DS13840,BMG_DS053608,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2",UMLS ID:C3150416,,,,,"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",MONDO:0013160,,,muscular dystrophy-dystroglycanopathy type B2,DOID:0112380,,OMIM ID:607439 | OMIM ID:613156 +BMGC_DS13841,BMG_DS053609,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",UMLS ID:C3150417,,,,,autosomal recessive limb-girdle muscular dystrophy type 2O,MONDO:0013161,,,,,,OMIM ID:606822 | OMIM ID:613157 +BMGC_DS13842,BMG_DS053610,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",UMLS ID:C3150418,,,,,autosomal recessive limb-girdle muscular dystrophy type 2N,MONDO:0013162,,,,,,OMIM ID:607439 | OMIM ID:613158 +BMGC_DS13843,BMG_DS053611,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1,UMLS ID:C3150419,,,,,nephronophthisis-like nephropathy 1,MONDO:0013163,,,nephronophthisis-like nephropathy 1,DOID:0111117,,OMIM ID:613159 | OMIM ID:613553 +BMGC_DS13844,BMG_DS053614,"EPILEPSY, HOT WATER, 2",UMLS ID:C3150536,,,,,"epilepsy, hot water, 2",MONDO:0013230,,,hot water epilepsy 2,DOID:0081107,,OMIM ID:613340 +BMGC_DS13845,BMG_DS053616,,UMLS ID:C3150546,,,,,"pancreatic cancer, susceptibility to, 2",MONDO:0013235,,,,,,OMIM ID:613347 +BMGC_DS13846,BMG_DS053617,,UMLS ID:C3150547,,,,,"pancreatic cancer, susceptibility to, 3",MONDO:0013236,,,,,,OMIM ID:613348 +BMGC_DS13847,BMG_DS053618,"MONONEUROPATHY OF THE MEDIAN NERVE, MILD",UMLS ID:C3150596,,,,,"susceptibility to mononeuropathy of the median nerve, mild",MONDO:0013237,,,,,,OMIM ID:613353 | OMIM ID:608206 +BMGC_DS13848,BMG_DS053619,CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME,UMLS ID:C3150607,,,,,chromosome 17q23.1-q23.2 deletion syndrome,MONDO:0013238,,,,,,OMIM ID:613355 +BMGC_DS13849,BMG_DS053620,"Maturity-onset diabetes of the young, type 10",UMLS ID:C3150617,"Maturity-onset diabetes of the young, type 10 (disorder) | Maturity-onset diabetes of the young, type 10 | MODY10 (maturity-onset diabetes of the young type 10)",SNOMEDCT ID:609577006,,,maturity-onset diabetes of the young type 10,MONDO:0013240,,,,,,OMIM ID:613370 +BMGC_DS13850,BMG_DS053621,"Maturity-onset diabetes of the young, type 11",UMLS ID:C3150618,"Maturity-onset diabetes of the young, type 11 | Maturity-onset diabetes of the young, type 11 (disorder) | MODY11 (maturity-onset diabetes of the young type 11)",SNOMEDCT ID:609578001,,,maturity-onset diabetes of the young type 11,MONDO:0013242,,,,,,OMIM ID:613375 +BMGC_DS13851,BMG_DS053622,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4",UMLS ID:C3150619,,,,,"neuronopathy, distal hereditary motor, type 2C",MONDO:0013243,,,autosomal dominant distal hereditary motor neuronopathy 4,DOID:0111209,,OMIM ID:604624 | OMIM ID:613376 +BMGC_DS13852,BMG_DS053623,"BRACHYDACTYLY, TYPE E2",UMLS ID:C3150644,,,,,brachydactyly type E2,MONDO:0013244,,,brachydactyly type E2,DOID:0110976,,OMIM ID:168470 | OMIM ID:613382 +BMGC_DS13853,BMG_DS053624,"AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM",UMLS ID:C3150649,,,,,syndromic multisystem autoimmune disease due to ITCH deficiency,MONDO:0013245,,,,,,OMIM ID:606409 | OMIM ID:613385 +BMGC_DS13854,BMG_DS053625,,UMLS ID:C3150651,,,,,"fatty liver disease, nonalcoholic, susceptibility to, 2",MONDO:0013246,,,,,,OMIM ID:613387 +BMGC_DS13855,BMG_DS053626,FANCONI RENOTUBULAR SYNDROME 2,UMLS ID:C3150652,,,,,Fanconi renotubular syndrome 2,MONDO:0013247,,,Fanconi renotubular syndrome 2,DOID:0080758,,OMIM ID:182309 | OMIM ID:613388 +BMGC_DS13856,BMG_DS053627,"FANCONI ANEMIA, COMPLEMENTATION GROUP O",UMLS ID:C3150653,,,,,Fanconi anemia complementation group O,MONDO:0013248,,,Fanconi anemia complementation group O,DOID:0111096,,OMIM ID:602774 | OMIM ID:613390 +BMGC_DS13857,BMG_DS053628,"DEAFNESS, AUTOSOMAL RECESSIVE 84A",UMLS ID:C3150654,,,,,autosomal recessive nonsyndromic hearing loss 84A,MONDO:0013249,,,,,,OMIM ID:603317 | OMIM ID:613391 +BMGC_DS13858,BMG_DS053629,BIRBECK GRANULE DEFICIENCY,UMLS ID:C3150657,,,,,Birbeck granule deficiency,MONDO:0013251,,,,,,OMIM ID:604862 | OMIM ID:613393 +BMGC_DS13859,BMG_DS053630,WARSAW BREAKAGE SYNDROME,UMLS ID:C3150658,,,,,Warsaw breakage syndrome,MONDO:0013252,,,Warsaw breakage syndrome,DOID:0060535,,OMIM ID:601150 | OMIM ID:613398 +BMGC_DS13860,BMG_DS053631,,UMLS ID:C3150659,,,,,"breast-ovarian cancer, familial, susceptibility to, 3",MONDO:0013253,,,,,,OMIM ID:613399 +BMGC_DS13861,BMG_DS053634,"MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY",UMLS ID:C3150667,,,,,"microcephaly, seizures, and developmental delay",MONDO:0013254,,,"microcephaly, seizures, and developmental delay",DOID:0080457,,OMIM ID:605610 | OMIM ID:613402 +BMGC_DS13862,BMG_DS053635,"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2",UMLS ID:C3150672,,,,,"arthrogryposis, renal dysfunction, and cholestasis 2",MONDO:0013255,,,"arthrogryposis, renal dysfunction, and cholestasis 2",DOID:0111354,,OMIM ID:613401 | OMIM ID:613404 +BMGC_DS13863,BMG_DS053636,CHROMOSOME 15q24 DELETION SYNDROME,UMLS ID:C3150674,,,,,chromosome 15q24 deletion syndrome,MONDO:0013256,,,,,,OMIM ID:613406 +BMGC_DS13864,BMG_DS053637,CHROMOSOME 15q24 DUPLICATION SYNDROME,UMLS ID:C3150675,,,,,,,,,,,,OMIM ID:613406 +BMGC_DS13865,BMG_DS053639,,UMLS ID:C3150677,,,,,"autism, susceptibility to, 16",MONDO:0013258,,,,,,OMIM ID:613410 +BMGC_DS13866,BMG_DS053640,OGUCHI DISEASE 2,UMLS ID:C3150678,,,,,Oguchi disease-2,MONDO:0013259,,,Oguchi disease-2,DOID:0110713,,OMIM ID:180381 | OMIM ID:613411 +BMGC_DS13867,BMG_DS053641,"ESOPHAGITIS, EOSINOPHILIC, 2",UMLS ID:C3150679,,,,,"esophagitis, eosinophilic, 2",MONDO:0013260,,,,,,OMIM ID:613412 +BMGC_DS13868,BMG_DS053642,"CARDIOMYOPATHY, DILATED, 1R",UMLS ID:C3150681,,,,,dilated cardiomyopathy 1R,MONDO:0013261,,,,,,OMIM ID:102540 | OMIM ID:613424 +BMGC_DS13869,BMG_DS053643,LEFT VENTRICULAR NONCOMPACTION 4,UMLS ID:C3150682,,,,,left ventricular noncompaction 4,MONDO:0800350,,,,,,OMIM ID:102540 | OMIM ID:613424 +BMGC_DS13870,BMG_DS053644,LEFT VENTRICULAR NONCOMPACTION 5,UMLS ID:C3150690,,,,,left ventricular noncompaction 5,MONDO:0800351,,,,,,OMIM ID:160760 | OMIM ID:613426 +BMGC_DS13871,BMG_DS053645,RETINITIS PIGMENTOSA 54,UMLS ID:C3150691,,,,,retinitis pigmentosa 54,MONDO:0013263,,,,,,OMIM ID:613425 | OMIM ID:613428 +BMGC_DS13872,BMG_DS053646,AMYOTROPHIC LATERAL SCLEROSIS 12,UMLS ID:C3150692,,,,,amyotrophic lateral sclerosis type 12,MONDO:0013264,,,,,,OMIM ID:602432 | OMIM ID:613435 +BMGC_DS13873,BMG_DS053647,,UMLS ID:C3150693,,,,,"autism, susceptibility to, 17",MONDO:0013265,,,,,,OMIM ID:613436 +BMGC_DS13874,BMG_DS053648,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE",UMLS ID:C3150700,,,,,"intellectual disability, autosomal dominant 20",MONDO:0013266,,,"neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",DOID:0070050,,OMIM ID:600662 | OMIM ID:613443 +BMGC_DS13875,BMG_DS053649,"CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",UMLS ID:C3150701,,,,,distal 16p11.2 microdeletion syndrome,MONDO:0013267,,,"chromosome 16p11.2 deletion syndrome, 220-kb",DOID:0060398,,OMIM ID:613444 +BMGC_DS13876,BMG_DS053650,FRONTONASAL DYSPLASIA 2,UMLS ID:C3150703,,,,,frontonasal dysplasia with alopecia and genital anomaly,MONDO:0013268,,,frontonasal dysplasia 2,DOID:0081046,,OMIM ID:613451 | OMIM ID:605420 +BMGC_DS13877,BMG_DS053651,"DEAFNESS, AUTOSOMAL RECESSIVE 91",UMLS ID:C3150704,,,,,autosomal recessive nonsyndromic hearing loss 91,MONDO:0013269,,,,,,OMIM ID:173321 | OMIM ID:613453 +BMGC_DS13878,BMG_DS053652,FOXG1 syndrome,UMLS ID:C3150705,FOXG1 syndrome | FOXG1 syndrome (disorder),SNOMEDCT ID:702450004,,,"Rett syndrome, congenital variant",MONDO:0013270,,,,,,OMIM ID:613454 +BMGC_DS13879,BMG_DS053653,FRONTONASAL DYSPLASIA 3,UMLS ID:C3150706,,,,,frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome,MONDO:0013271,,,frontonasal dysplasia 3,DOID:0081047,,OMIM ID:601527 | OMIM ID:613456 +BMGC_DS13880,BMG_DS053654,CHROMOSOME 14q11-q22 DELETION SYNDROME,UMLS ID:C3150707,,,,,chromosome 14q11-q22 deletion syndrome,MONDO:0013272,,,chromosome 14q11-q22 deletion syndrome,DOID:0060392,,OMIM ID:613457 +BMGC_DS13881,BMG_DS053655,CHROMOSOME 16p13.3 DUPLICATION SYNDROME,UMLS ID:C3150708,,,,,chromosome 16p13.3 duplication syndrome,MONDO:0013273,,,,,,OMIM ID:613458 +BMGC_DS13882,BMG_DS053656,RETINITIS PIGMENTOSA 51,UMLS ID:C3150715,,,,,retinitis pigmentosa 51,MONDO:0013274,,,,,,OMIM ID:608132 | OMIM ID:613464 +BMGC_DS13883,BMG_DS053657,"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",UMLS ID:C3150730,,,,,hemolytic anemia due to glucophosphate isomerase deficiency,MONDO:0013275,,,congenital nonspherocytic hemolytic anemia 4,DOID:0051005,,OMIM ID:172400 | OMIM ID:613470 +BMGC_DS13884,BMG_DS053658,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5,UMLS ID:C3150731,,,,,"developmental and epileptic encephalopathy, 5",MONDO:0013277,,,developmental and epileptic encephalopathy 5,DOID:0080438,,OMIM ID:182810 | OMIM ID:613477 +BMGC_DS13885,BMG_DS053659,LONG QT SYNDROME 13,UMLS ID:C3150733,,,,,long QT syndrome 13,MONDO:0013279,,,,,,OMIM ID:600734 | OMIM ID:613485 +BMGC_DS13886,BMG_DS053660,Antibody Deficiency due to Defect in CD19,UMLS ID:C3150738,,,,,"immunodeficiency, common variable, 3",MONDO:0013283,,MeSH ID:C566275,,,,OMIM ID:613493 +BMGC_DS13887,BMG_DS053661,"IMMUNODEFICIENCY, COMMON VARIABLE, 4",UMLS ID:C3150739,,,,,"immunodeficiency, common variable, 4",MONDO:0013284,,,common variable immunodeficiency 4,DOID:0081147,,OMIM ID:613494 | OMIM ID:606269 +BMGC_DS13888,BMG_DS053662,"IMMUNODEFICIENCY, COMMON VARIABLE, 5",UMLS ID:C3150740,,,,,"immunodeficiency, common variable, 5",MONDO:0013285,,,common variable immunodeficiency 5,DOID:0081148,,OMIM ID:613495 | OMIM ID:112210 +BMGC_DS13889,BMG_DS053663,"IMMUNODEFICIENCY, COMMON VARIABLE, 6",UMLS ID:C3150741,,,,,"immunodeficiency, common variable, 6",MONDO:0013286,,,common variable immunodeficiency 6,DOID:0081149,,OMIM ID:613496 | OMIM ID:186845 +BMGC_DS13890,BMG_DS053664,"AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE",UMLS ID:C3150750,,,,,"agammaglobulinemia 2, autosomal recessive",MONDO:0013287,,,agammaglobulinemia 2,DOID:0081135,,OMIM ID:146770 | OMIM ID:613500 +BMGC_DS13891,BMG_DS053665,"AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE",UMLS ID:C3150751,,,,,"agammaglobulinemia 3, autosomal recessive",MONDO:0013288,,,agammaglobulinemia 3,DOID:0081137,,OMIM ID:613501 +BMGC_DS13892,BMG_DS053666,"AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE",UMLS ID:C3150752,,,,,"agammaglobulinemia 4, autosomal recessive",MONDO:0013289,,,agammaglobulinemia 4,DOID:0060027,,OMIM ID:604515 | OMIM ID:613502 +BMGC_DS13893,BMG_DS053667,"AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT",UMLS ID:C3150753,,,,,"agammaglobulinemia 5, autosomal dominant",MONDO:0013290,,,agammaglobulinemia 5,DOID:0080588,,OMIM ID:613506 +BMGC_DS13894,BMG_DS053668,GLYCOGEN STORAGE DISEASE XV,UMLS ID:C3150754,,,,,glycogen storage disease XV,MONDO:0013291,,,glycogen storage disease XV,DOID:0050579,,OMIM ID:613507 | OMIM ID:603942 +BMGC_DS13895,BMG_DS053669,CHROMOSOME 4q21 DELETION SYNDROME,UMLS ID:C3150756,,,,,chromosome 4q21 deletion syndrome,MONDO:0013292,,,chromosome 4q21 deletion syndrome,DOID:0060420,,OMIM ID:613509 +BMGC_DS13896,BMG_DS053670,"MICROPHTHALMIA, ISOLATED 6",UMLS ID:C3150757,,,,,isolated microphthalmia 6,MONDO:0013293,,,,,,OMIM ID:613517 | OMIM ID:613858 +BMGC_DS13897,BMG_DS053672,"DERMATITIS, ATOPIC, 8",UMLS ID:C3150763,,,,,"dermatitis, atopic, 8",MONDO:0013294,,,atopic dermatitis 8,DOID:0110104,,OMIM ID:613518 +BMGC_DS13898,BMG_DS053673,"DERMATITIS, ATOPIC, 9",UMLS ID:C3150764,,,,,"dermatitis, atopic, 9",MONDO:0013295,,,atopic dermatitis 9,DOID:0110105,,OMIM ID:613519 +BMGC_DS13899,BMG_DS053674,,UMLS ID:C3150773,,,,,myeloid neoplasm associated with FGFR1 rearrangement,MONDO:0013296,,,,,,OMIM ID:613523 +BMGC_DS13900,BMG_DS053675,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H",UMLS ID:C3150786,,,,,autosomal dominant limb-girdle muscular dystrophy type 1H,MONDO:0013297,,,,,,OMIM ID:613530 +BMGC_DS13901,BMG_DS053676,CHROMOSOME 6q11-q14 DELETION SYNDROME,UMLS ID:C3150790,,,,,chromosome 6q11-q14 deletion syndrome,MONDO:0013299,,,chromosome 6q11-q14 deletion syndrome,DOID:0060423,,OMIM ID:613544 +BMGC_DS13902,BMG_DS053677,CHROMOSOME 6q13-q14 DELETION SYNDROME,UMLS ID:C3150791,,,,,,,,,chromosome 6q11-q14 deletion syndrome,DOID:0060423,,OMIM ID:613544 +BMGC_DS13903,BMG_DS053679,NEPHRONOPHTHISIS 11,UMLS ID:C3150796,,,,,nephronophthisis 11,MONDO:0013302,,,nephronophthisis 11,DOID:0111118,,OMIM ID:609884 | OMIM ID:613550 +BMGC_DS13904,BMG_DS053680,,UMLS ID:C3150797,,,,,"autoimmune disease, susceptibility to, 6",MONDO:0013303,,,,,,OMIM ID:613551 +BMGC_DS13905,BMG_DS053681,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7,UMLS ID:C3150801,,,,,combined oxidative phosphorylation defect type 7,MONDO:0013306,,,combined oxidative phosphorylation deficiency 7,DOID:0111487,,OMIM ID:613559 | OMIM ID:613541 +BMGC_DS13906,BMG_DS053682,"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2",UMLS ID:C3150802,,,,,"myopathy, lactic acidosis, and sideroblastic anemia 2",MONDO:0013307,,,"myopathy, lactic acidosis, and sideroblastic anemia 2",DOID:0111186,,OMIM ID:610957 | OMIM ID:613561 +BMGC_DS13907,BMG_DS053683,,UMLS ID:C3150803,,,,,CBL-related disorder,MONDO:0013308,,,,,,OMIM ID:613563 +BMGC_DS13908,BMG_DS053684,CHROMOSOME 2p12-p11.2 DELETION SYNDROME,UMLS ID:C3150804,,,,,chromosome 2p12-p11.2 deletion syndrome,MONDO:0013309,,,chromosome 2p12-p11.2 deletion syndrome,DOID:0060414,,OMIM ID:613564 +BMGC_DS13909,BMG_DS053685,ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1,UMLS ID:C3150807,,,,,ectodermal dysplasia-syndactyly syndrome 1,MONDO:0024565,,,,,,OMIM ID:613573 | OMIM ID:609607 +BMGC_DS13910,BMG_DS053686,RETINITIS PIGMENTOSA 55,UMLS ID:C3150808,,,,,retinitis pigmentosa 55,MONDO:0013312,,,,,,OMIM ID:608845 | OMIM ID:613575 +BMGC_DS13911,BMG_DS053687,ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2,UMLS ID:C3150809,,,,,ectodermal dysplasia-cutaneous syndactyly syndrome,MONDO:0013313,,,,,,OMIM ID:613576 +BMGC_DS13912,BMG_DS053688,RETINITIS PIGMENTOSA 56,UMLS ID:C3150819,,,,,retinitis pigmentosa 56,MONDO:0013314,,,,,,OMIM ID:607056 | OMIM ID:613581 +BMGC_DS13913,BMG_DS053689,RETINITIS PIGMENTOSA 57,UMLS ID:C3150821,,,,,retinitis pigmentosa 57,MONDO:0013315,,,,,,OMIM ID:180073 | OMIM ID:613582 +BMGC_DS13914,BMG_DS053690,OCCULT MACULAR DYSTROPHY,UMLS ID:C3150833,,,,,occult macular dystrophy,MONDO:0013316,,,occult macular dystrophy,DOID:0050578,,OMIM ID:608581 | OMIM ID:613587 +BMGC_DS13915,BMG_DS053692,,UMLS ID:C3150852,,,,,early repolarization associated with ventricular fibrillation,MONDO:0013318,,,,,,OMIM ID:613601 +BMGC_DS13916,BMG_DS053693,CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME,UMLS ID:C3150857,,,,,chromosome 4Q32.1-q32.2 triplication syndrome,MONDO:0013319,,,,,,OMIM ID:613603 +BMGC_DS13917,BMG_DS053694,"CHROMOSOME 16p12.2-p11.2 DELETION SYNDROME, 7.1- TO 8.7-MB",UMLS ID:C3150858,,,,,chromosome 16p12.2-p11.2 deletion syndrome,MONDO:0013320,,,,,,OMIM ID:613604 +BMGC_DS13918,BMG_DS053695,FORSYTHE-WAKELING SYNDROME,UMLS ID:C3150859,,,,,forsythe-wakeling syndrome,MONDO:0013321,,,,,,OMIM ID:613606 +BMGC_DS13919,BMG_DS053696,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3",UMLS ID:C3150860,,,,,"epilepsy, familial adult myoclonic, 3",MONDO:0013322,,,familial adult myoclonic epilepsy 3,DOID:0111695,,OMIM ID:613608 | OMIM ID:613297 +BMGC_DS13920,BMG_DS053697,CRANIOECTODERMAL DYSPLASIA 2,UMLS ID:C3150874,,,,,cranioectodermal dysplasia 2,MONDO:0013323,,,cranioectodermal dysplasia 2,DOID:0080804,,OMIM ID:613602 | OMIM ID:613610 +BMGC_DS13921,BMG_DS053698,"Lymphedema, posterior choanal atresia syndrome",UMLS ID:C3150875,"Lymphedema, posterior choanal atresia syndrome (disorder) | Lymphedema, posterior choanal atresia syndrome | Lymphoedema, posterior choanal atresia syndrome",SNOMEDCT ID:1204421005,,,lymphedema-posterior choanal atresia syndrome,MONDO:0013324,,,,,,OMIM ID:613611 +BMGC_DS13922,BMG_DS053699,COG5 congenital disorder of glycosylation,UMLS ID:C3150876,Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) | COG5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation | Component of oligomeric golgi complex 5 congenital disorder of glycosylation | COG5 congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type IIi | Congenital disorder of glycosylation type IIi | CDG2I - carbohydrate deficient glycoprotein syndrome type IIi,SNOMEDCT ID:721100009,,,COG5-congenital disorder of glycosylation,MONDO:0013325,,,,,,OMIM ID:613612 +BMGC_DS13923,BMG_DS053700,SENIOR-LOKEN SYNDROME 7,UMLS ID:C3150877,,,,,Senior-Loken syndrome 7,MONDO:0013326,,,,,,OMIM ID:613524 | OMIM ID:613615 +BMGC_DS13924,BMG_DS053701,Primary hyperoxaluria type III,UMLS ID:C3150878,Primary hyperoxaluria type III (disorder) | Primary hyperoxaluria type 3 | Primary hyperoxaluria type III,SNOMEDCT ID:734990008,,,primary hyperoxaluria type 3,MONDO:0013327,,,primary hyperoxaluria type 3,DOID:0111672,,OMIM ID:613616 +BMGC_DS13925,BMG_DS053702,RETINITIS PIGMENTOSA 58,UMLS ID:C3150879,,,,,retinitis pigmentosa 58,MONDO:0013328,,,,,,OMIM ID:613598 | OMIM ID:613617 +BMGC_DS13926,BMG_DS053703,CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME,UMLS ID:C3150880,,,,,familial clubfoot due to 17q23.1q23.2 microduplication,MONDO:0013329,,,,,,OMIM ID:613618 +BMGC_DS13927,BMG_DS053705,"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2",UMLS ID:C3150889,,,,,"factor 5 and Factor VIII, combined deficiency of, 2",MONDO:0013331,,,,,,OMIM ID:607788 | OMIM ID:613625 +BMGC_DS13928,BMG_DS053707,Fetal encasement syndrome,UMLS ID:C3150891,Cocoon syndrome | Foetal encasement syndrome | Fetal encasement syndrome (disorder) | Fetal encasement syndrome,SNOMEDCT ID:1220575002,,,cocoon syndrome,MONDO:0013334,,,,,,OMIM ID:613630 +BMGC_DS13929,BMG_DS053709,19p13.13 microdeletion syndrome,UMLS ID:C3150894,Monosomy 19p13.13 | 19p13.13 microdeletion syndrome (disorder) | 19p13.13 microdeletion syndrome | Chromosome 19p13.13 deletion syndrome,SNOMEDCT ID:764440006,,,chromosome 19p13.13 deletion syndrome,MONDO:0013336,,,,,,OMIM ID:613638 +BMGC_DS13930,BMG_DS053710,CHROMOSOME 19p13.13 DUPLICATION SYNDROME,UMLS ID:C3150895,,,,,,,,,chromosome 19p13.13 deletion syndrome,DOID:0060426,,OMIM ID:613638 +BMGC_DS13931,BMG_DS053711,Hereditary sensory autonomic neuropathy type IC,UMLS ID:C3150896,Hereditary sensory autonomic neuropathy type IC (disorder) | Hereditary sensory autonomic neuropathy type IC,SNOMEDCT ID:860814001,,,"neuropathy, hereditary sensory and autonomic, type 1C",MONDO:0013337,,,,,,OMIM ID:613640 +BMGC_DS13932,BMG_DS053712,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",UMLS ID:C3150897,,,,,Charcot-Marie-Tooth disease recessive intermediate B,MONDO:0013338,,,,,,OMIM ID:601421 | OMIM ID:613641 +BMGC_DS13933,BMG_DS053713,"CARDIOMYOPATHY, DILATED, 1GG",UMLS ID:C3150898,,,,,dilated cardiomyopathy 1GG,MONDO:0013339,,,,,,OMIM ID:613642 | OMIM ID:600857 +BMGC_DS13934,BMG_DS053714,,UMLS ID:C3150899,,,,,"Parkinson disease 5, autosomal dominant, susceptibility to",MONDO:0013340,,,,,,OMIM ID:613643 +BMGC_DS13935,BMG_DS053715,"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE",UMLS ID:C3150901,,,,,hereditary spastic paraplegia 48,MONDO:0013342,,,,,,OMIM ID:613647 | OMIM ID:613653 +BMGC_DS13936,BMG_DS053716,C1q DEFICIENCY 1,UMLS ID:C3150902,,,,,C1Q deficiency,MONDO:0013343,,,,,,OMIM ID:120550 | OMIM ID:613652 +BMGC_DS13937,BMG_DS053717,D-2-HYDROXYGLUTARIC ACIDURIA 2,UMLS ID:C3150909,,,,,d-2-hydroxyglutaric aciduria 2,MONDO:0013345,,,D-2-hydroxyglutaric aciduria 2,DOID:0111352,,OMIM ID:147650 | OMIM ID:613657 +BMGC_DS13938,BMG_DS053718,Brain calcification Rajab type,UMLS ID:C3150910,Brain calcification Rajab type (disorder) | Brain calcification Rajab type | Rajab syndrome,SNOMEDCT ID:720576001,,,Rajab interstitial lung disease with brain calcifications,MONDO:0100214,,,,,, +BMGC_DS13939,BMG_DS053719,CONE-ROD DYSTROPHY 15,UMLS ID:C3150912,,,,,cone-rod dystrophy 15,MONDO:0013348,,,cone-rod dystrophy 15,DOID:0111021,,OMIM ID:609502 | OMIM ID:613660 +BMGC_DS13940,BMG_DS053720,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip",UMLS ID:C3150913,,,,,ALG11-congenital disorder of glycosylation,MONDO:0013349,,,congenital disorder of glycosylation Ip,DOID:0080567,,OMIM ID:613661 | OMIM ID:613666 +BMGC_DS13941,BMG_DS053721,MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE),UMLS ID:C3150914,,,,,mitochondrial DNA depletion syndrome 4b,MONDO:0013350,,,mitochondrial DNA depletion syndrome 4b,DOID:0080123,,OMIM ID:613662 | OMIM ID:174763 +BMGC_DS13942,BMG_DS053722,"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY",UMLS ID:C3150921,,,,,infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,MONDO:0013351,,,infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,DOID:0111262,,OMIM ID:603810 | OMIM ID:613668 +BMGC_DS13943,BMG_DS053723,"Anterior maxillary protrusion, strabismus, intellectual disability syndrome",UMLS ID:C3150924,"Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome | Anterior maxillary protrusion, strabismus, intellectual disability syndrome | MRAMS syndrome",SNOMEDCT ID:1222706005,,,"intellectual disability, anterior maxillary protrusion, and strabismus",MONDO:0013353,,,,,,OMIM ID:613671 +BMGC_DS13944,BMG_DS053724,"SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE",UMLS ID:C3150925,,,,,spastic ataxia 4,MONDO:0013354,,,spastic ataxia 4,DOID:0050943,,OMIM ID:613672 | OMIM ID:613669 +BMGC_DS13945,BMG_DS053725,Congenital dyserythropoietic anemia type IV,UMLS ID:C3150926,Congenital dyserythropoietic anemia type IV (disorder) | Congenital dyserythropoietic anemia type IV | Congenital dyserythropoietic anaemia type IV | Congenital dyserythropoietic anemia type 4 | Congenital dyserythropoietic anaemia type 4,SNOMEDCT ID:719453009,,,congenital dyserythropoietic anemia type 4,MONDO:0013355,,,congenital dyserythropoietic anemia type IVa,DOID:0111400,,OMIM ID:613673 +BMGC_DS13946,BMG_DS053726,VESICOURETERAL REFLUX 3,UMLS ID:C3150927,,,,,vesicoureteral reflux 3,MONDO:0013356,,,,,,OMIM ID:613674 | OMIM ID:610928 +BMGC_DS13947,BMG_DS053727,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,UMLS ID:C3150939,"THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Beaulieu Boycott Innes syndrome | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder) | BBIS - Beaulieu Boycott Innes syndrome",SNOMEDCT ID:773554009,,,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,MONDO:0013362,,,,,,OMIM ID:613680 +BMGC_DS13948,BMG_DS053728,CHROMOSOME 2q31.1 DUPLICATION SYNDROME,UMLS ID:C3150940,,,,,chromosome 2q31.1 duplication syndrome,MONDO:0013363,,,chromosome 2q31.1 duplication syndrome,DOID:0060458,,OMIM ID:613681 +BMGC_DS13949,BMG_DS053729,RUBINSTEIN-TAYBI SYNDROME 2,UMLS ID:C3150941,,,,,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,MONDO:0013364,,,,,,OMIM ID:602700 | OMIM ID:613684 +BMGC_DS13950,BMG_DS053730,"SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE",UMLS ID:C3150942,,,,,"spondylocostal dysostosis 4, autosomal recessive",MONDO:0013366,,,spondylocostal dysostosis 4,DOID:0112364,,OMIM ID:613686 +BMGC_DS13951,BMG_DS053731,Long Qt Syndrome 2,UMLS ID:C3150943,,,,,long QT syndrome 2,MONDO:0013367,,MeSH ID:C563614,long QT syndrome 2,DOID:0110645,,OMIM ID:613688 +BMGC_DS13952,BMG_DS053732,MAMMARY-DIGITAL-NAIL SYNDROME,UMLS ID:C3150946,,,,,mammary-digital-nail syndrome,MONDO:0013368,,,,,,OMIM ID:613689 +BMGC_DS13953,BMG_DS053733,Long Qt Syndrome 6,UMLS ID:C3150953,,,,,long QT syndrome 6,MONDO:0013370,,MeSH ID:C566333,long QT syndrome 6,DOID:0110648,,OMIM ID:613693 +BMGC_DS13954,BMG_DS053734,"Cardiomyopathy, Dilated, 1V",UMLS ID:C3150958,,,,,dilated cardiomyopathy 1V,MONDO:0013373,,MeSH ID:C566856,,,,OMIM ID:613697 +BMGC_DS13955,BMG_DS053735,"KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT",UMLS ID:C3150967,,,,,"Klippel-Feil syndrome 3, autosomal dominant",MONDO:0013375,,,Klippel-Feil syndrome 3,DOID:0080591,,OMIM ID:606522 | OMIM ID:613702 +BMGC_DS13956,BMG_DS053736,,UMLS ID:C3150968,,,,,"microphthalmia, isolated, with coloboma 6",MONDO:0013376,,,,,,OMIM ID:613703 +BMGC_DS13957,BMG_DS053737,"MICROPHTHALMIA, ISOLATED 7",UMLS ID:C3150969,,,,,isolated microphthalmia 7,MONDO:0013377,,,,,,OMIM ID:606522 | OMIM ID:613704 +BMGC_DS13958,BMG_DS053738,NOONAN SYNDROME 7,UMLS ID:C3150970,,,,,Noonan syndrome 7,MONDO:0013379,,,,,,OMIM ID:164757 | OMIM ID:613706 +BMGC_DS13959,BMG_DS053739,LEOPARD SYNDROME 3,UMLS ID:C3150971,,,,,LEOPARD syndrome 3,MONDO:0013380,,,Noonan syndrome with multiple lentigines 3,DOID:0080550,,OMIM ID:164757 | OMIM ID:613707 +BMGC_DS13960,BMG_DS053740,"NEUROPATHY, HEREDITARY SENSORY, TYPE ID",UMLS ID:C3150972,,,,,"neuropathy, hereditary sensory, type 1D",MONDO:0013381,,,hereditary sensory neuropathy type 1D,DOID:0070156,,OMIM ID:606439 | OMIM ID:613708 +BMGC_DS13961,BMG_DS053741,Progressive polyneuropathy with bilateral striatal necrosis,UMLS ID:C3150973,Progressive polyneuropathy with bilateral striatal necrosis | Progressive polyneuropathy with bilateral striatal necrosis (disorder),SNOMEDCT ID:771305006,,,progressive demyelinating neuropathy with bilateral striatal necrosis,MONDO:0013382,,,,,,OMIM ID:613710 +BMGC_DS13962,BMG_DS053742,,UMLS ID:C3150974,,,,,"Hirschsprung disease, susceptibility to, 3",MONDO:0013383,,,,,,OMIM ID:613711 +BMGC_DS13963,BMG_DS053743,,UMLS ID:C3150975,,,,,"Hirschsprung disease, susceptibility to, 4",MONDO:0013384,,,,,,OMIM ID:613712 +BMGC_DS13964,BMG_DS053744,TREACHER COLLINS SYNDROME 2,UMLS ID:C3150983,,,,,Treacher Collins syndrome 2,MONDO:0013385,,,Treacher Collins syndrome 2,DOID:0080790,,OMIM ID:613715 | OMIM ID:613717 +BMGC_DS13965,BMG_DS053745,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7",UMLS ID:C3150986,,,,,"developmental and epileptic encephalopathy, 7",MONDO:0013387,,,developmental and epileptic encephalopathy 7,DOID:0080462,,OMIM ID:613720 +BMGC_DS13966,BMG_DS053746,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11",UMLS ID:C3150987,,,,,"developmental and epileptic encephalopathy, 11",MONDO:0013388,,,developmental and epileptic encephalopathy 11,DOID:0080421,,OMIM ID:613721 +BMGC_DS13967,BMG_DS053747,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12,UMLS ID:C3150988,,,,,"developmental and epileptic encephalopathy, 12",MONDO:0013389,,,developmental and epileptic encephalopathy 12,DOID:0080459,,OMIM ID:605716 | OMIM ID:613722 | OMIM ID:607120 +BMGC_DS13968,BMG_DS053748,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",UMLS ID:C3150989,,,,,autosomal recessive limb-girdle muscular dystrophy type 2Q,MONDO:0013390,,,,,,OMIM ID:613723 +BMGC_DS13969,BMG_DS053749,Deficiency of sterol carrier protein X,UMLS ID:C3150990,SCPX (sterol carrier protein X) deficiency | Sterol carrier protein-2 deficiency | Deficiency of sterol carrier protein X (disorder) | Sterol carrier protein X deficiency | Deficiency of sterol carrier protein X | SCPx (sterol carrier protein x) deficiency,SNOMEDCT ID:1296861002,,,sterol carrier protein 2 deficiency,MONDO:0013391,,,,,,OMIM ID:613724 +BMGC_DS13970,BMG_DS053750,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10",UMLS ID:C3150998,,,,,autosomal recessive spinocerebellar ataxia 10,MONDO:0013392,,,autosomal recessive spinocerebellar ataxia 10,DOID:0050999,,OMIM ID:613726 | OMIM ID:613728 +BMGC_DS13971,BMG_DS053752,"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS",UMLS ID:C3151000,,,,,porencephaly-microcephaly-bilateral congenital cataract syndrome,MONDO:0013394,,,,,,OMIM ID:606871 | OMIM ID:613730 +BMGC_DS13972,BMG_DS053753,Retinitis Pigmentosa 4,UMLS ID:C3151001,,,,,retinitis pigmentosa 4,MONDO:0013395,,MeSH ID:C566706,retinitis pigmentosa 4,DOID:0110372,,OMIM ID:613731 +BMGC_DS13973,BMG_DS053754,"ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE",UMLS ID:C3151037,,,,,"acne inversa, familial, 2",MONDO:0013397,,,,,,OMIM ID:613736 | OMIM ID:607632 +BMGC_DS13974,BMG_DS053755,"ACNE INVERSA, FAMILIAL, 3",UMLS ID:C3151038,,,,,"acne inversa, familial, 3",MONDO:0013398,,,,,,OMIM ID:104311 | OMIM ID:613737 +BMGC_DS13975,BMG_DS053756,"Cardiomyopathy, Dilated, 1t",UMLS ID:C3151039,,,,,obsolete dilated cardiomyopathy 1T,MONDO:0000911,,MeSH ID:C566052,,,,OMIM ID:613740 +BMGC_DS13976,BMG_DS053757,"ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",UMLS ID:C3151055,,,,,"Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",MONDO:0013400,,,congenital adrenal insufficiency,DOID:0050546,,OMIM ID:118485 | OMIM ID:613743 +BMGC_DS13977,BMG_DS053758,"SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE",UMLS ID:C3151056,,,,,hereditary spastic paraplegia 51,MONDO:0013401,,,hereditary spastic paraplegia 51,DOID:0110803,,OMIM ID:607244 | OMIM ID:613744 +BMGC_DS13978,BMG_DS053759,"HETEROTAXY, VISCERAL, 4, AUTOSOMAL",UMLS ID:C3151057,,,,,"heterotaxy, visceral, 4, autosomal",MONDO:0013403,,,,,,OMIM ID:602730 | OMIM ID:613751 +BMGC_DS13979,BMG_DS053760,S-adenosylhomocysteine hydrolase deficiency,UMLS ID:C3151058,Deficiency of S-adenosylhomocysteine hydrolase (disorder) | S-adenosylhomocysteine hydrolase deficiency | Deficiency of S-adenosylhomocysteine hydrolase,SNOMEDCT ID:724040000,,,hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,MONDO:0013404,,,,,,OMIM ID:613752 +BMGC_DS13980,BMG_DS053761,RETINITIS PIGMENTOSA 49,UMLS ID:C3151059,,,,,retinitis pigmentosa 49,MONDO:0013405,,,,,,OMIM ID:123825 | OMIM ID:613756 +BMGC_DS13981,BMG_DS053762,"Macular Degeneration, Age-Related, 6",UMLS ID:C3151060,,,,,age related macular degeneration 6,MONDO:0013406,,MeSH ID:C563674,,,,OMIM ID:613757 +BMGC_DS13982,BMG_DS053763,RETINITIS PIGMENTOSA 47,UMLS ID:C3151061,,,,,retinitis pigmentosa 47,MONDO:0013407,,,,,,OMIM ID:613758 | OMIM ID:181031 +BMGC_DS13983,BMG_DS053764,"IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION",UMLS ID:C3151062,,,,,FADD-related immunodeficiency,MONDO:0013408,,,,,,OMIM ID:613759 | OMIM ID:602457 +BMGC_DS13984,BMG_DS053765,"MACULAR DEGENERATION, AGE-RELATED, 5",UMLS ID:C3151063,,,,,age related macular degeneration 5,MONDO:0013409,,,age related macular degeneration 5,DOID:0110028,,OMIM ID:613761 +BMGC_DS13985,BMG_DS053766,"46,XY SEX REVERSAL 6",UMLS ID:C3151064,,,,,"46,XY sex reversal 6",MONDO:0013410,,,"46,XY sex reversal 6",DOID:0111769,,OMIM ID:600982 | OMIM ID:613762 +BMGC_DS13986,BMG_DS053768,RETINITIS PIGMENTOSA 45,UMLS ID:C3151066,,,,,retinitis pigmentosa 45,MONDO:0013413,,,,,,OMIM ID:600724 | OMIM ID:613767 +BMGC_DS13987,BMG_DS053769,RETINITIS PIGMENTOSA 44,UMLS ID:C3151068,,,,,retinitis pigmentosa 44,MONDO:0013414,,,,,,OMIM ID:600342 | OMIM ID:613769 +BMGC_DS13988,BMG_DS053770,CHROMOSOME 17p13.1 DELETION SYNDROME,UMLS ID:C3151069,,,,,chromosome 17p13.1 deletion syndrome,MONDO:0013415,,,,,,OMIM ID:613776 +BMGC_DS13989,BMG_DS053771,"MACULAR DEGENERATION, AGE-RELATED, 8",UMLS ID:C3151070,,,,,age related macular degeneration 8,MONDO:0013416,,,age related macular degeneration 8,DOID:0110020,,OMIM ID:613778 +BMGC_DS13990,BMG_DS053772,"COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",UMLS ID:C3151071,,,,,complement component 3 deficiency,MONDO:0013417,,,,,,OMIM ID:613779 +BMGC_DS13991,BMG_DS053773,"AORTIC ANEURYSM, FAMILIAL THORACIC 7",UMLS ID:C3151077,,,,,"aortic aneurysm, familial thoracic 7",MONDO:0013418,,,,,,OMIM ID:613780 | OMIM ID:600922 +BMGC_DS13992,BMG_DS053774,Complement Component C1s Deficiency,UMLS ID:C3151078,,,,,complement component C1s deficiency,MONDO:0013419,,MeSH ID:C565170,,,,OMIM ID:613783 +BMGC_DS13993,BMG_DS053775,"MACULAR DEGENERATION, AGE-RELATED, 12",UMLS ID:C3151079,,,,,age related macular degeneration 12,MONDO:0013420,,,age related macular degeneration 12,DOID:0110024,,OMIM ID:613784 +BMGC_DS13994,BMG_DS053776,"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II",UMLS ID:C3151080,,,,,type II complement component 8 deficiency,MONDO:0013421,,,,,,OMIM ID:613789 +BMGC_DS13995,BMG_DS053777,"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I",UMLS ID:C3151081,,,,,type I complement component 8 deficiency,MONDO:0013422,,,,,,OMIM ID:613790 +BMGC_DS13996,BMG_DS053778,MASP2 Deficiency,UMLS ID:C3151085,,,,,immunodeficiency due to MASP-2 deficiency,MONDO:0013423,,MeSH ID:C565360,,,,OMIM ID:613791 +BMGC_DS13997,BMG_DS053779,Retinitis Pigmentosa 20,UMLS ID:C3151086,,,,,retinitis pigmentosa 20,MONDO:0013425,,MeSH ID:C566718,retinitis pigmentosa 20,DOID:0110353,,OMIM ID:613794 +BMGC_DS13998,BMG_DS053780,LOEYS-DIETZ SYNDROME 3,UMLS ID:C3151087,,,,,aneurysm-osteoarthritis syndrome,MONDO:0013426,,,Loeys-Dietz syndrome 3,DOID:0070237,,OMIM ID:603109 | OMIM ID:613795 +BMGC_DS13999,BMG_DS053781,IMMUNODEFICIENCY 31B,UMLS ID:C3151088,,,,,immunodeficiency 31B,MONDO:0013427,,,immunodeficiency 31B,DOID:0111944,,OMIM ID:600555 | OMIM ID:613796 +BMGC_DS14000,BMG_DS053782,MEIER-GORLIN SYNDROME 2,UMLS ID:C3151097,,,,,Meier-Gorlin syndrome 2,MONDO:0013428,,,Meier-Gorlin syndrome 2,DOID:0080513,,OMIM ID:613800 | OMIM ID:603056 +BMGC_DS14001,BMG_DS053783,RETINITIS PIGMENTOSA 40,UMLS ID:C3151107,,,,,retinitis pigmentosa 40,MONDO:0013429,,,,,,OMIM ID:180072 | OMIM ID:613801 +BMGC_DS14002,BMG_DS053784,MEIER-GORLIN SYNDROME 3,UMLS ID:C3151113,,,,,Meier-Gorlin syndrome 3,MONDO:0013430,,,Meier-Gorlin syndrome 3,DOID:0080514,,OMIM ID:607213 | OMIM ID:613803 +BMGC_DS14003,BMG_DS053785,MEIER-GORLIN SYNDROME 4,UMLS ID:C3151120,,,,,Meier-Gorlin syndrome 4,MONDO:0013431,,,Meier-Gorlin syndrome 4,DOID:0080515,,OMIM ID:605525 | OMIM ID:613804 +BMGC_DS14004,BMG_DS053786,MEIER-GORLIN SYNDROME 5,UMLS ID:C3151126,,,,,Meier-Gorlin syndrome 5,MONDO:0013432,,,Meier-Gorlin syndrome 5,DOID:0080516,,OMIM ID:602627 | OMIM ID:613805 +BMGC_DS14005,BMG_DS053787,"CILIARY DYSKINESIA, PRIMARY, 14",UMLS ID:C3151136,,,,,primary ciliary dyskinesia 14,MONDO:0013434,,,,,,OMIM ID:613798 | OMIM ID:613807 +BMGC_DS14006,BMG_DS053788,"CILIARY DYSKINESIA, PRIMARY, 15",UMLS ID:C3151137,,,,,primary ciliary dyskinesia 15,MONDO:0013435,,,,,,OMIM ID:613799 | OMIM ID:613808 +BMGC_DS14007,BMG_DS053789,RETINITIS PIGMENTOSA 39,UMLS ID:C3151138,,,,,retinitis pigmentosa 39,MONDO:0013436,,,,,,OMIM ID:608400 | OMIM ID:613809 +BMGC_DS14008,BMG_DS053790,RETINITIS PIGMENTOSA 43,UMLS ID:C3151139,,,,,retinitis pigmentosa 43,MONDO:0013437,,,,,,OMIM ID:180071 | OMIM ID:613810 +BMGC_DS14009,BMG_DS053791,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2D",UMLS ID:C3151140,,,,,pontocerebellar hypoplasia type 2D,MONDO:0013438,,,,,,OMIM ID:613811 | OMIM ID:613009 +BMGC_DS14010,BMG_DS053793,"Bile Acid Synthesis Defect, Congenital, 3",UMLS ID:C3151147,,,,,congenital bile acid synthesis defect 3,MONDO:0013439,,MeSH ID:C566340,congenital bile acid synthesis defect 3,DOID:0111070,,OMIM ID:613812 +BMGC_DS14011,BMG_DS053794,SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C3151185,,,,,asphyxiating thoracic dystrophy 4,MONDO:0013441,,,,,,OMIM ID:613819 +BMGC_DS14012,BMG_DS053795,NEPHRONOPHTHISIS 12,UMLS ID:C3151186,,,,,nephronophthisis 12,MONDO:0013442,,,nephronophthisis 12,DOID:0111119,,OMIM ID:612014 | OMIM ID:613820 +BMGC_DS14013,BMG_DS053796,SECKEL SYNDROME 5,UMLS ID:C3151187,,,,,Seckel syndrome 5,MONDO:0013443,,,Seckel syndrome 5,DOID:0070012,,OMIM ID:613529 | OMIM ID:613823 +BMGC_DS14014,BMG_DS053797,NEPHRONOPHTHISIS 9,UMLS ID:C3151188,,,,,nephronophthisis 9,MONDO:0013444,,,nephronophthisis 9,DOID:0111120,,OMIM ID:609799 | OMIM ID:613824 +BMGC_DS14015,BMG_DS053798,C9 Deficiency,UMLS ID:C3151189,,,,,complement component 9 deficiency,MONDO:0013445,,MeSH ID:C565165,,,,OMIM ID:613825 +BMGC_DS14016,BMG_DS053799,RETINITIS PIGMENTOSA 48,UMLS ID:C3151190,,,,,retinitis pigmentosa 48,MONDO:0013447,,,,,,OMIM ID:602275 | OMIM ID:613827 +BMGC_DS14017,BMG_DS053800,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8",UMLS ID:C3151191,,,,,"generalized epilepsy with febrile seizures plus, type 8",MONDO:0013448,,,generalized epilepsy with febrile seizures plus 8,DOID:0111299,,OMIM ID:613828 +BMGC_DS14018,BMG_DS053801,LEBER CONGENITAL AMAUROSIS 7,UMLS ID:C3151192,,,,,Leber congenital amaurosis 7,MONDO:0013449,,,,,,OMIM ID:602225 | OMIM ID:613829 +BMGC_DS14019,BMG_DS053802,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D",UMLS ID:C3151193,,,,,congenital stationary night blindness 1D,MONDO:0013450,,,congenital stationary night blindness 1D,DOID:0110868,,OMIM ID:603617 | OMIM ID:613830 +BMGC_DS14020,BMG_DS053803,Multisystemic smooth muscle dysfunction syndrome,UMLS ID:C3151201,Multisystemic smooth muscle dysfunction syndrome (disorder) | Multisystemic smooth muscle dysfunction syndrome,SNOMEDCT ID:782724001,,,multisystemic smooth muscle dysfunction syndrome,MONDO:0013452,,,,,,OMIM ID:613834 +BMGC_DS14021,BMG_DS053804,LEBER CONGENITAL AMAUROSIS 8,UMLS ID:C3151202,,,,,Leber congenital amaurosis 8,MONDO:0013453,,,,,,OMIM ID:604210 | OMIM ID:613835 +BMGC_DS14022,BMG_DS053805,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16",UMLS ID:C3151204,,,,,hypertrophic cardiomyopathy 16,MONDO:0013455,,,hypertrophic cardiomyopathy 16,DOID:0110322,,OMIM ID:613838 | OMIM ID:605602 +BMGC_DS14023,BMG_DS053806,Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency,UMLS ID:C3151205,,,,,constitutional megaloblastic anemia with severe neurologic disease,MONDO:0013456,,MeSH ID:C565095,,,,OMIM ID:613839 +BMGC_DS14024,BMG_DS053807,LEBER CONGENITAL AMAUROSIS 15,UMLS ID:C3151206,,,,,Leber congenital amaurosis 15,MONDO:0013457,,,,,,OMIM ID:602280 | OMIM ID:613843 +BMGC_DS14025,BMG_DS053808,"Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome",UMLS ID:C3151209,"Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome (disorder) | HUPRA syndrome | Hyperuricaemia, pulmonary hypertension, renal failure, alkalosis syndrome",SNOMEDCT ID:776416004,,,hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,MONDO:0013458,,,,,,OMIM ID:613845 +BMGC_DS14026,BMG_DS053809,"OSTEOGENESIS IMPERFECTA, TYPE X",UMLS ID:C3151211,,,,,osteogenesis imperfecta type 10,MONDO:0013459,,,,,,OMIM ID:600943 | OMIM ID:613848 +BMGC_DS14027,BMG_DS053810,"OSTEOGENESIS IMPERFECTA, TYPE XI",UMLS ID:C3151218,,,,,osteogenesis imperfecta type 11,MONDO:0012592,,,,,,OMIM ID:607063 | OMIM ID:610968 +BMGC_DS14028,BMG_DS053811,FUCOSYLTRANSFERASE 6 DEFICIENCY,UMLS ID:C3151219,,,,,fucosyltransferase 6 deficiency,MONDO:0013462,,,,,,OMIM ID:136836 | OMIM ID:613852 +BMGC_DS14029,BMG_DS053812,,UMLS ID:C3151221,,,,,"congenital heart defects, multiple types, 6",MONDO:0013463,,,,,,OMIM ID:613854 +BMGC_DS14030,BMG_DS053813,OROFACIAL CLEFT 13,UMLS ID:C3151222,,,,,orofacial cleft 13,MONDO:0013466,,,orofacial cleft 13,DOID:0080406,,OMIM ID:613857 +BMGC_DS14031,BMG_DS053814,FICOLIN 3 DEFICIENCY,UMLS ID:C3151226,,,,,immunodeficiency due to ficolin3 deficiency,MONDO:0013467,,,,,,OMIM ID:613860 | OMIM ID:604973 +BMGC_DS14032,BMG_DS053815,RETINITIS PIGMENTOSA 59,UMLS ID:C3151227,,,,,retinitis pigmentosa 59,MONDO:0013468,,,,,,OMIM ID:613861 | OMIM ID:608172 +BMGC_DS14033,BMG_DS053816,RETINITIS PIGMENTOSA 38,UMLS ID:C3151228,,,,,retinitis pigmentosa 38,MONDO:0013469,,,,,,OMIM ID:604705 | OMIM ID:613862 +BMGC_DS14034,BMG_DS053817,"FEBRILE SEIZURES, FAMILIAL, 3B",UMLS ID:C3151229,,,,,"febrile seizures, familial, 3b",MONDO:0800354,,,,,,OMIM ID:613863 +BMGC_DS14035,BMG_DS053818,"DEAFNESS, AUTOSOMAL RECESSIVE 61",UMLS ID:C3151230,,,,,autosomal recessive nonsyndromic hearing loss 61,MONDO:0013471,,,,,,OMIM ID:604943 | OMIM ID:613865 +BMGC_DS14036,BMG_DS053819,"Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",UMLS ID:C3151237,,,,,"Hirschsprung disease, cardiac defects, and autonomic dysfunction",MONDO:0013473,,MeSH ID:C563939,,,,OMIM ID:613870 +BMGC_DS14037,BMG_DS053820,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17",UMLS ID:C3151264,,,,,hypertrophic cardiomyopathy 17,MONDO:0013474,,,hypertrophic cardiomyopathy 17,DOID:0110323,,OMIM ID:613873 +BMGC_DS14038,BMG_DS053821,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18",UMLS ID:C3151265,,,,,hypertrophic cardiomyopathy 18,MONDO:0013475,,,hypertrophic cardiomyopathy 18,DOID:0110324,,OMIM ID:172405 | OMIM ID:613874 +BMGC_DS14039,BMG_DS053822,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20",UMLS ID:C3151267,,,,,hypertrophic cardiomyopathy 20,MONDO:0013477,,,hypertrophic cardiomyopathy 20,DOID:0110326,,OMIM ID:613876 | OMIM ID:613121 +BMGC_DS14040,BMG_DS053823,"CARDIOMYOPATHY, DILATED, 1HH",UMLS ID:C3151293,,,,,dilated cardiomyopathy 1HH,MONDO:0013479,,,,,,OMIM ID:603883 | OMIM ID:613881 +BMGC_DS14041,BMG_DS053824,"HYPOMAGNESEMIA 6, RENAL",UMLS ID:C3151295,,,,,renal hypomagnesemia 6,MONDO:0013480,,,,,,OMIM ID:607803 | OMIM ID:613882 +BMGC_DS14042,BMG_DS053825,,UMLS ID:C3151302,,,,,chromosome 13q14 deletion syndrome,MONDO:0013481,,,,,,OMIM ID:613884 +BMGC_DS14043,BMG_DS053826,"Obesity, Hyperphagia, and Developmental Delay",UMLS ID:C3151303,,,,,"obesity, hyperphagia, and developmental delay",MONDO:0013483,,MeSH ID:C563938,,,,OMIM ID:613886 +BMGC_DS14044,BMG_DS053827,CATARACT 36,UMLS ID:C3151304,,,,,cataract 36,MONDO:0013484,,,cataract 36,DOID:0110247,,OMIM ID:611258 | OMIM ID:613887 +BMGC_DS14045,BMG_DS053828,SPINOCEREBELLAR ATAXIA 32,UMLS ID:C3151343,,,,,spinocerebellar ataxia type 32,MONDO:0013486,,,,,,OMIM ID:613909 +BMGC_DS14046,BMG_DS053829,"LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3, WITH OR WITHOUT GLOMERULONEPHRITIS",UMLS ID:C3151347,,,,,"lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis",MONDO:0013488,,,,,,OMIM ID:613913 +BMGC_DS14047,BMG_DS053830,"DEAFNESS, AUTOSOMAL RECESSIVE 89",UMLS ID:C3151351,,,,,autosomal recessive nonsyndromic hearing loss 89,MONDO:0013489,,,,,,OMIM ID:613916 | OMIM ID:601421 +BMGC_DS14048,BMG_DS053831,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A,UMLS ID:C3151355,,,,,megalencephalic leukoencephalopathy with subcortical cysts 2A,MONDO:0013490,,,megalencephalic leukoencephalopathy with subcortical cysts 2A,DOID:0080318,,OMIM ID:613925 | OMIM ID:611642 +BMGC_DS14049,BMG_DS053832,"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C3151356,,,,,"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",MONDO:0013491,,,megalencephalic leukoencephalopathy with subcortical cysts 2B,DOID:0080317,,OMIM ID:613926 | OMIM ID:611642 +BMGC_DS14050,BMG_DS053833,ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 3,UMLS ID:C3151362,,,,,alopecia-intellectual disability syndrome 3,MONDO:0013492,,,alopecia-mental retardation syndrome 3,DOID:0080951,,OMIM ID:613930 +BMGC_DS14051,BMG_DS053834,"PARASOMNIA, SLEEPWALKING TYPE",UMLS ID:C3151363,,,,,"parasomnia, sleepwalking type",MONDO:0100226,,,,,,OMIM ID:613938 +BMGC_DS14052,BMG_DS053835,"PARASOMNIA, SLEEP TERRORS TYPE",UMLS ID:C3151364,,,,,"parasomnia, sleep terrors type",MONDO:0800355,,,,,,OMIM ID:613938 +BMGC_DS14053,BMG_DS053836,,UMLS ID:C3151378,,,,,"IgA nephropathy, susceptibility to, 2",MONDO:0013496,,,,,,OMIM ID:613944 +BMGC_DS14054,BMG_DS053837,OKT4 EPITOPE DEFICIENCY,UMLS ID:C3151379,,,,,Okt4 epitope deficiency,MONDO:0013497,,,,,,OMIM ID:613949 | OMIM ID:186940 +BMGC_DS14055,BMG_DS053838,,UMLS ID:C3151380,,,,,schizophrenia 15,MONDO:0013498,,,,,,OMIM ID:613950 +BMGC_DS14056,BMG_DS053839,"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2",UMLS ID:C3151404,,,,,"amyloidosis, primary localized cutaneous, 2",MONDO:0013502,,,primary localized cutaneous amyloidosis 2,DOID:0080931,,OMIM ID:613955 | OMIM ID:609510 +BMGC_DS14057,BMG_DS053840,"CANDIDIASIS, FAMILIAL, 6",UMLS ID:C3151405,,,,,"candidiasis, familial, 6",MONDO:0013503,,,,,,OMIM ID:613956 | OMIM ID:606496 +BMGC_DS14058,BMG_DS053841,SPERMATOGENIC FAILURE 8,UMLS ID:C3151406,,,,,spermatogenic failure 8,MONDO:0013504,,,spermatogenic failure 8,DOID:0070169,,OMIM ID:184757 | OMIM ID:613957 +BMGC_DS14059,BMG_DS053842,SPERMATOGENIC FAILURE 9,UMLS ID:C3151407,,,,,spermatogenic failure 9,MONDO:0013505,,,spermatogenic failure 9,DOID:0111156,,OMIM ID:613958 | OMIM ID:613893 +BMGC_DS14060,BMG_DS053843,SCHIZOPHRENIA 16,UMLS ID:C3151408,,,,,schizophrenia 16,MONDO:0013506,,,schizophrenia 16,DOID:0070092,,OMIM ID:613959 +BMGC_DS14061,BMG_DS053844,"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3",UMLS ID:C3151409,,,,,"granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3",MONDO:0013507,,,autosomal recessive chronic granulomatous disease 3,DOID:0070194,,OMIM ID:601488 | OMIM ID:613960 +BMGC_DS14062,BMG_DS053845,"MYOPIA 19, AUTOSOMAL DOMINANT",UMLS ID:C3151410,,,,,"myopia 19, autosomal dominant",MONDO:0013508,,,,,,OMIM ID:613969 +BMGC_DS14063,BMG_DS053846,,UMLS ID:C3151411,,,,,"intellectual disability, autosomal dominant 6",MONDO:0013509,,,,,,OMIM ID:613970 +BMGC_DS14064,BMG_DS053847,,UMLS ID:C3151417,,,,,"melanoma, cutaneous malignant, susceptibility to, 6",MONDO:0013510,,,,,,OMIM ID:613972 +BMGC_DS14065,BMG_DS053848,"CYANOSIS, TRANSIENT NEONATAL",UMLS ID:C3151421,,,,,"cyanosis, transient neonatal",MONDO:0013511,,,,,,OMIM ID:142250 | OMIM ID:613977 +BMGC_DS14066,BMG_DS053849,"ATRIAL FIBRILLATION, FAMILIAL, 9",UMLS ID:C3151431,,,,,"atrial fibrillation, familial, 9",MONDO:0013513,,,,,,OMIM ID:600681 | OMIM ID:613980 +BMGC_DS14067,BMG_DS053850,HYPOTRICHOSIS 3,UMLS ID:C3151432,,,,,hypotrichosis 3,MONDO:0013514,,,hypotrichosis 3,DOID:0110700,,OMIM ID:613981 | OMIM ID:608248 +BMGC_DS14068,BMG_DS053851,"OSTEOGENESIS IMPERFECTA, TYPE XII",UMLS ID:C3151433,,,,,osteogenesis imperfecta type 12,MONDO:0013460,,,,,,OMIM ID:606633 | OMIM ID:613849 +BMGC_DS14069,BMG_DS053852,RETINITIS PIGMENTOSA 60,UMLS ID:C3151434,,,,,retinitis pigmentosa 60,MONDO:0013516,,,,,,OMIM ID:613983 | OMIM ID:613979 +BMGC_DS14070,BMG_DS053853,"PITUITARY HORMONE DEFICIENCY, COMBINED, 6",UMLS ID:C3151440,,,,,"pituitary hormone deficiency, combined, 6",MONDO:0013518,,,combined pituitary hormone deficiency 6,DOID:0061022,,OMIM ID:600037 | OMIM ID:613986 +BMGC_DS14071,BMG_DS053854,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",UMLS ID:C3151441,,,,,"dyskeratosis congenita, autosomal recessive 2",MONDO:0013519,,,autosomal recessive dyskeratosis congenita 2,DOID:0070017,,OMIM ID:606470 | OMIM ID:613987 +BMGC_DS14072,BMG_DS053855,,UMLS ID:C3151442,,,,,"dyskeratosis congenita, autosomal recessive 3",MONDO:0013520,,,,,,OMIM ID:613988 +BMGC_DS14073,BMG_DS053856,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2",UMLS ID:C3151443,,,,,"dyskeratosis congenita, autosomal dominant 2",MONDO:0013521,,,autosomal dominant dyskeratosis congenita 2,DOID:0070016,,OMIM ID:187270 | OMIM ID:613989 +BMGC_DS14074,BMG_DS053857,,UMLS ID:C3151444,,,,,autosomal recessive dyskeratosis congenita 4,MONDO:0027353,,,,,, +BMGC_DS14075,BMG_DS053858,,UMLS ID:C3151445,,,,,"dyskeratosis congenita, autosomal dominant 3",MONDO:0013522,,,,,,OMIM ID:613990 +BMGC_DS14076,BMG_DS053859,Nestor Guillermo progeria syndrome,UMLS ID:C3151446,Nestor Guillermo progeria syndrome (disorder) | Nestor Guillermo progeria syndrome | NGPS - Nestor Guillermo progeria syndrome,SNOMEDCT ID:773331001,,,Nestor-Guillermo progeria syndrome,MONDO:0013523,,,,,,OMIM ID:614008 +BMGC_DS14077,BMG_DS053860,"CILIARY DYSKINESIA, PRIMARY, 16",UMLS ID:C3151460,,,,,primary ciliary dyskinesia 16,MONDO:0013525,,,,,,OMIM ID:610062 | OMIM ID:614017 +BMGC_DS14078,BMG_DS053861,LISSENCEPHALY 4 WITH MICROCEPHALY,UMLS ID:C3151461,,,,,lissencephaly 4,MONDO:0013527,,,lissencephaly 4,DOID:0112235,,OMIM ID:609449 | OMIM ID:614019 +BMGC_DS14079,BMG_DS053862,,UMLS ID:C3151462,,,,,"intellectual disability, autosomal recessive 14",MONDO:0013528,,,,,,OMIM ID:614020 +BMGC_DS14080,BMG_DS053863,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3",UMLS ID:C3151463,,,,,catecholaminergic polymorphic ventricular tachycardia 3,MONDO:0013529,,,,,,OMIM ID:614021 | OMIM ID:617242 +BMGC_DS14081,BMG_DS053864,"ATRIAL FIBRILLATION, FAMILIAL, 10",UMLS ID:C3151464,,,,,"atrial fibrillation, familial, 10",MONDO:0013530,,,,,,OMIM ID:600163 | OMIM ID:614022 +BMGC_DS14082,BMG_DS053865,PROTEIN Z DEFICIENCY,UMLS ID:C3151465,,,,,protein Z deficiency,MONDO:0013532,,,,,,OMIM ID:176895 | OMIM ID:614024 +BMGC_DS14083,BMG_DS053866,,UMLS ID:C3151466,,,,,hyperlipidemia due to hepatic triglyceride lipase deficiency,MONDO:0013533,,,,,,OMIM ID:614025 +BMGC_DS14084,BMG_DS053867,Apolipoprotein C-III Deficiency,UMLS ID:C3151467,,,,,apolipoprotein c-III deficiency,MONDO:0013534,,MeSH ID:C566270,apolipoprotein C-III deficiency,DOID:0111370,,OMIM ID:614028 +BMGC_DS14085,BMG_DS053868,MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA),UMLS ID:C3151476,,,,,mitochondrial DNA depletion syndrome 9,MONDO:0009504,,,,,,OMIM ID:245400 | OMIM ID:611224 +BMGC_DS14086,BMG_DS053869,"HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",UMLS ID:C3151482,,,,,,,,,,,,OMIM ID:248250 | OMIM ID:603959 +BMGC_DS14087,BMG_DS053870,"CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA",UMLS ID:C3151493,,,,,Hennekam-Beemer syndrome,MONDO:0009569,,,,,,OMIM ID:248910 +BMGC_DS14088,BMG_DS053872,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3",UMLS ID:C3151519,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",MONDO:0009667,,,congenital muscular dystrophy-dystroglycanopathy type A3,DOID:0111236,,OMIM ID:253280 | OMIM ID:606822 +BMGC_DS14089,BMG_DS053873,CONGENITAL MYOPATHY 11,UMLS ID:C3151531,,,,,congenital myopathy 11,MONDO:0859264,,,,,,OMIM ID:610467 | OMIM ID:619967 +BMGC_DS14090,BMG_DS053874,"NEPHROTIC SYNDROME, TYPE 4",UMLS ID:C3151568,,,,,"nephrotic syndrome, type 4",MONDO:0009733,,,nephrotic syndrome type 4,DOID:0080383,,OMIM ID:607102 | OMIM ID:256370 +BMGC_DS14091,BMG_DS053875,"NYSTAGMUS 8, CONGENITAL, AUTOSOMAL RECESSIVE",UMLS ID:C3151571,,,,,"nystagmus, congenital, autosomal recessive",MONDO:0009762,,,autosomal recessive congenital nystagmus,DOID:0111797,,OMIM ID:257400 | OMIM ID:602430 +BMGC_DS14092,BMG_DS053876,"BLOUNT DISEASE, ADOLESCENT",UMLS ID:C3151572,,,,,"Blount disease, adolescent",MONDO:0009800,,,,,,OMIM ID:259200 +BMGC_DS14093,BMG_DS053877,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",UMLS ID:C3151609,,,,,,,,,autosomal recessive Robinow syndrome,DOID:0060764,,OMIM ID:268310 | OMIM ID:602337 +BMGC_DS14094,BMG_DS053878,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",UMLS ID:C3151610,,,,,,,,,autosomal recessive Robinow syndrome,DOID:0060764,,OMIM ID:268310 | OMIM ID:602337 +BMGC_DS14095,BMG_DS053879,ANTERIOR SEGMENT DYSGENESIS 7,UMLS ID:C3151617,,,,,anterior segment dysgenesis 7,MONDO:0010015,,,anterior segment dysgenesis 7,DOID:0080612,,OMIM ID:269400 | OMIM ID:605158 +BMGC_DS14096,BMG_DS053880,"ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C3151619,,,,,"ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability",MONDO:0010040,,,,,,OMIM ID:270500 +BMGC_DS14097,BMG_DS053882,"NYSTAGMUS 6, CONGENITAL, X-LINKED",UMLS ID:C3151752,,,,,"nystagmus 6, congenital, X-linked",MONDO:0010435,,,congenital nystagmus 6,DOID:0111795,,OMIM ID:300808 | OMIM ID:300814 +BMGC_DS14098,BMG_DS053883,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6,UMLS ID:C3151753,,,,,severe X-linked mitochondrial encephalomyopathy,MONDO:0010437,,,combined oxidative phosphorylation deficiency 6,DOID:0111502,,OMIM ID:300169 | OMIM ID:300816 +BMGC_DS14099,BMG_DS053884,CK syndrome,UMLS ID:C3151781,"CK syndrome | X-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome | CK syndrome (disorder)",SNOMEDCT ID:773329005,,,CK syndrome,MONDO:0010441,,,CK syndrome,DOID:0111898,,OMIM ID:300831 +BMGC_DS14100,BMG_DS053885,"46,XX SEX REVERSAL 3",UMLS ID:C3151782,,,,,"46,XX sex reversal 3",MONDO:0010442,,,"46,XX sex reversal 3",DOID:0111762,,OMIM ID:300833 +BMGC_DS14101,BMG_DS053886,CHROMOSOME Xq26 DELETION SYNDROME,UMLS ID:C3151783,,,,,,,,,"46,XX sex reversal 3",DOID:0111762,,OMIM ID:300833 +BMGC_DS14102,BMG_DS053887,"MACULAR DEGENERATION, ATROPHIC, X-LINKED",UMLS ID:C3151784,,,,,"macular degeneration, X-linked atrophic",MONDO:0010443,,,X-linked atrophic macular degeneration,DOID:0112157,,OMIM ID:300834 | OMIM ID:312610 +BMGC_DS14103,BMG_DS053889,"MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM",UMLS ID:C3151857,,,,,moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,MONDO:0010448,,,,,,OMIM ID:300845 +BMGC_DS14104,BMG_DS053890,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED",UMLS ID:C3151867,,,,,"congenital heart defects, multiple types, 1, X-linked",MONDO:0800321,,,,,,OMIM ID:300265 | OMIM ID:306955 +BMGC_DS14105,BMG_DS053892,"DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL",UMLS ID:C3151897,,,,,mitochondrial non-syndromic sensorineural hearing loss,MONDO:0010779,,,mitochondrial nonsyndromic sensorineural deafness,DOID:0111751,,OMIM ID:500008 | OMIM ID:516000 | OMIM ID:516030 | OMIM ID:561000 | OMIM ID:590045 | OMIM ID:590080 | OMIM ID:590040 +BMGC_DS14106,BMG_DS053893,"MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT",UMLS ID:C3151898,,,,,mitochondrial myopathy with reversible cytochrome C oxidase deficiency,MONDO:0010780,,,,,,OMIM ID:500009 | OMIM ID:590025 +BMGC_DS14107,BMG_DS053895,"RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA",UMLS ID:C3151959,,,,,proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome,MONDO:0010798,,,,,,OMIM ID:560000 +BMGC_DS14108,BMG_DS053898,D-2-HYDROXYGLUTARIC ACIDURIA 1,UMLS ID:C3152055,,,,,D-2-hydroxyglutaric aciduria 1,MONDO:0024554,,,D-2-hydroxyglutaric aciduria 1,DOID:0111351,,OMIM ID:600721 | OMIM ID:609186 +BMGC_DS14109,BMG_DS053899,"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY",UMLS ID:C3152083,,,,,,,,,multiple epiphyseal dysplasia 3,DOID:0070304,,OMIM ID:120270 | OMIM ID:600969 +BMGC_DS14110,BMG_DS053900,"USH1D/F, CDH23/PCDH15, DIGENIC",UMLS ID:C3152102,,,,,,,,,,,,OMIM ID:601067 +BMGC_DS14111,BMG_DS053901,LEFT VENTRICULAR NONCOMPACTION 3,UMLS ID:C3152137,,,,,,,,,,,,OMIM ID:605906 | OMIM ID:601493 +BMGC_DS14112,BMG_DS053902,"AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE",UMLS ID:C3152144,,,,,autosomal recessive agammaglobulinemia 1,MONDO:0020729,,,agammaglobulinemia 1,DOID:0081136,,OMIM ID:601495 +BMGC_DS14113,BMG_DS053904,,UMLS ID:C3152204,,,,,"melanoma, cutaneous malignant, susceptibility to, 8",MONDO:0013759,,,,,,OMIM ID:614456 +BMGC_DS14114,BMG_DS053906,BORNHOLM EYE DISEASE,UMLS ID:C3159311,,,,,X-linked cone dysfunction syndrome with myopia,MONDO:0010446,,,,,,OMIM ID:300843 +BMGC_DS14115,BMG_DS053907,"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",UMLS ID:C3159322,,,,,"spondyloepimetaphyseal dysplasia, Maroteaux type",MONDO:0008473,,,spondyloepiphyseal dysplasia Maroteaux type,DOID:0111553,,OMIM ID:605427 | OMIM ID:184095 +BMGC_DS14116,BMG_DS053908,"PARKINSON DISEASE, LATE-ONSET",UMLS ID:C3160718,,,,,late-onset Parkinson disease,MONDO:0008199,,,late onset Parkinson's disease,DOID:0060892,,OMIM ID:168600 +BMGC_DS14117,BMG_DS053909,,UMLS ID:C3160719,,,,,"IgA nephropathy, susceptibility to, 1",MONDO:0008072,,,,,,OMIM ID:161950 +BMGC_DS14118,BMG_DS053910,"Cardiomyopathy, Dilated, 1u",UMLS ID:C3160720,,,,,dilated cardiomyopathy 1U,MONDO:0013371,,MeSH ID:C566296,,,,OMIM ID:613694 +BMGC_DS14119,BMG_DS053911,,UMLS ID:C3160733,,,,,thrombophilia due to thrombin defect,MONDO:0008559,,,thrombophilia due to thrombin defect,DOID:0111907,,OMIM ID:188050 +BMGC_DS14120,BMG_DS053912,"DEAFNESS, AUTOSOMAL DOMINANT 51",UMLS ID:C3160736,,,,,autosomal dominant nonsyndromic hearing loss 51,MONDO:0013305,,,,,,OMIM ID:613558 +BMGC_DS14121,BMG_DS053913,"FANCONI ANEMIA, COMPLEMENTATION GROUP D2",UMLS ID:C3160738,,,,,Fanconi anemia complementation group D2,MONDO:0009214,,,Fanconi anemia complementation group D2,DOID:0111083,,OMIM ID:227646 | OMIM ID:613984 +BMGC_DS14122,BMG_DS053914,"FANCONI ANEMIA, COMPLEMENTATION GROUP E",UMLS ID:C3160739,,,,,Fanconi anemia complementation group E,MONDO:0010953,,,Fanconi anemia complementation group E,DOID:0111084,,OMIM ID:600901 | OMIM ID:613976 +BMGC_DS14123,BMG_DS053915,"DEAFNESS, AUTOSOMAL RECESSIVE 85",UMLS ID:C3160740,,,,,autosomal recessive nonsyndromic hearing loss 85,MONDO:0013250,,,,,,OMIM ID:613392 +BMGC_DS14124,BMG_DS053919,Posterior reversible encephalopathy syndrome,UMLS ID:C3160858,Posterior reversible encephalopathy syndrome | Posterior reversible encephalopathy syndrome (disorder) | Reversible posterior leukoencephalopathy syndrome | Reversible posterior leucoencephalopathy syndrome,SNOMEDCT ID:450886002,,,,,,,,,ICD10 ID:I67.83, +BMGC_DS14125,BMG_DS053931,Secondary spontaneous pneumothorax,UMLS ID:C3161098,Secondary spontaneous pneumothorax (disorder) | Secondary spontaneous pneumothorax,SNOMEDCT ID:328571000119101,,,,,,,,,ICD10 ID:J93.12, +BMGC_DS14126,BMG_DS053938,,UMLS ID:C3161174,,,,,hemoglobin H disease,MONDO:0013512,,,,,,OMIM ID:613978 +BMGC_DS14127,BMG_DS053939,Hydrops fetalis due to alpha thalassemia,UMLS ID:C3161175,,,"Alpha thalassaemia, unspecified",ICD11 ID:3A50.0Z,,,,,alpha thalassemia-X-linked intellectual disability syndrome | hemoglobin H disease | alpha thalassemia-intellectual disability syndrome type 1,DOID:0110031;DOID:0110029;DOID:0110030,ICD10 ID:D56.0, +BMGC_DS14128,BMG_DS053956,Primary immunoglobulin A nephropathy (disorder),UMLS ID:C3161650,Primary IgA nephropathy | Berger's disease | Focal glomerulonephritis | Primary immunoglobulin A nephropathy | Primary immunoglobulin A nephropathy (disorder),SNOMEDCT ID:68779003,,,,,,,,,, +BMGC_DS14129,BMG_DS053976,Recurrent lower respiratory tract infection,UMLS ID:C3163798,Recurrent lower respiratory tract infection (disorder) | Recurrent lower respiratory tract infection,SNOMEDCT ID:448739000,,,,,,,,,, +BMGC_DS14130,BMG_DS053983,Sepsis caused by Gram negative bacteria,UMLS ID:C3163829,Sepsis caused by Gram negative bacteria (disorder) | Sepsis caused by Gram negative bacteria | Severe sepsis with acute organ dysfunction caused by Gram-negative bacteria,SNOMEDCT ID:449082003,,,,,,,,,, +BMGC_DS14131,BMG_DS054033,Adult onset autosomal dominant leukodystrophy,UMLS ID:C3164344,Adult onset autosomal dominant leukodystrophy (disorder) | Adult onset autosomal dominant leucodystrophy | Adult onset autosomal dominant leukodystrophy,SNOMEDCT ID:448054001,,,,,,,adult-onset autosomal dominant demyelinating leukodystrophy,DOID:0060785,, +BMGC_DS14132,BMG_DS054035,Sepsis caused by methicillin resistant Staphylococcus aureus,UMLS ID:C3164390,Sepsis caused by methicillin resistant Staphylococcus aureus (disorder) | Sepsis caused by methicillin resistant Staphylococcus aureus | Severe sepsis with acute organ dysfunction caused by methicillin resistant Staphylococcus aureus,SNOMEDCT ID:448812000,,,,,,,,,, +BMGC_DS14133,BMG_DS054147,Widespread Chronic Pain,UMLS ID:C3178789,,,,,,,Chronic Pain,MeSH ID:D059350,,,, +BMGC_DS14134,BMG_DS054149,Heterotaxy Syndrome,UMLS ID:C3178805,,,,,visceral heterotaxy,MONDO:0018677,Heterotaxy Syndrome,MeSH ID:D059446,,,, +BMGC_DS14135,BMG_DS054150,,UMLS ID:C3178806,,,,,right atrial isomerism,MONDO:0008832,,,,,,OMIM ID:208530 +BMGC_DS14136,BMG_DS054155,Bilateral Slipped Capital Femoral Epiphyses,UMLS ID:C3178898,,,,,epiphysiolysis of the hip,MONDO:0018382,Slipped Capital Femoral Epiphyses,MeSH ID:D060048,,,,OMIM ID:182260 +BMGC_DS14137,BMG_DS054156,Unilateral Slipped Capital Femoral Epiphyses,UMLS ID:C3178899,,,,,epiphysiolysis of the hip,MONDO:0018382,Slipped Capital Femoral Epiphyses,MeSH ID:D060048,,,,OMIM ID:182260 +BMGC_DS14138,BMG_DS054167,Disseminated Fusariosis,UMLS ID:C3178973,,,,,,,Fusariosis,MeSH ID:D060585,fusariosis,DOID:0050289,, +BMGC_DS14139,BMG_DS054168,Pulmonary Fusariosis,UMLS ID:C3178974,,,,,,,Fusariosis,MeSH ID:D060585,fusariosis,DOID:0050289,, +BMGC_DS14140,BMG_DS054173,GALNS Deficiency,UMLS ID:C3179194,,,,,,,Mucopolysaccharidosis IV,MeSH ID:D009085,,,, +BMGC_DS14141,BMG_DS054174,Osteopetrosis Autosomal Dominant Type 2,UMLS ID:C3179239,,,,,autosomal dominant osteopetrosis 2,MONDO:0008156,Osteopetrosis,MeSH ID:D010022,autosomal dominant osteopetrosis 2,DOID:0110938,,OMIM ID:166600 +BMGC_DS14142,BMG_DS054175,Pott's Paraplegia,UMLS ID:C3179450,,,,,,,"Tuberculosis, Spinal",MeSH ID:D014399,,,, +BMGC_DS14143,BMG_DS054176,"Niemann-Pick Disease, Type C1",UMLS ID:C3179455,,,,,"Niemann-Pick disease, type C1",MONDO:0009757,"Niemann-Pick Disease, Type C",MeSH ID:D052556,,,,OMIM ID:257220 +BMGC_DS14144,BMG_DS054180,Linear Verrucous Epidermal Nevus,UMLS ID:C3179502,,,,,,,"Nevus, Sebaceous of Jadassohn",MeSH ID:D054000,,,, +BMGC_DS14145,BMG_DS054182,Microdeletion 15q11.2,UMLS ID:C3180937,,,,,chromosome 15q11.2 deletion syndrome,MONDO:0014294,,MeSH ID:C557830,chromosome 15q11.2 deletion syndrome,DOID:0060393,,OMIM ID:615656 +BMGC_DS14146,BMG_DS054183,Non-Infective Endocarditis,UMLS ID:C3202971,,,,,,,"Endocarditis, Non-Infective",MeSH ID:D059905,nonbacterial thrombotic endocarditis,DOID:0060068,, +BMGC_DS14147,BMG_DS054185,Hyperheparinemia,UMLS ID:C3203346,Hyperheparinemia | Hyperheparinaemia | Hyperheparinemia (disorder),SNOMEDCT ID:79674009,,,hyperheparinemia,MONDO:0007752,,MeSH ID:C562723,,,ICD10 ID:D68.32,OMIM ID:144050 +BMGC_DS14148,BMG_DS054186,Factor II deficiency,UMLS ID:C3203356,Hypoprothrombinemia | Hypoprothrombinaemia | Deficiency of factor II &/or prothrombin | Deficiency of factor II or prothrombin | Factor II deficiency | Deficiency of factor II &/or prothrombin (disorder) | Factor II deficiency | Prothrombin deficiency | Factor II deficiency (disorder),SNOMEDCT ID:191283001 | SNOMEDCT ID:73975000,,,,,,,,,, +BMGC_DS14149,BMG_DS054189,Axial Spondyloarthritis,UMLS ID:C3203547,,,,,,,Axial Spondyloarthritis,MeSH ID:D000089183,,,, +BMGC_DS14150,BMG_DS054192,Precordial Catch Syndrome,UMLS ID:C3203733,,,,,,,Chest Pain,MeSH ID:D002637,,,, +BMGC_DS14151,BMG_DS054194,Nonalcoholic Steatohepatitis,UMLS ID:C3241937,,,,,metabolic dysfunction-associated steatohepatitis,MONDO:0007027,Non-alcoholic Fatty Liver Disease,MeSH ID:D065626,metabolic dysfunction-associated steatotic liver disease,DOID:0080208,, +BMGC_DS14152,BMG_DS054201,Miliaria crystallina,UMLS ID:C3241961,Miliaria crystallina | Sudamina | Sweat rash | Miliaria crystallina (disorder),SNOMEDCT ID:44279002,Other specified forms of miliaria,ICD11 ID:EE02.Y,miliaria crystallina,MONDO:0024229,,,miliaria crystallina,DOID:0070321,ICD10 ID:L74.1, +BMGC_DS14153,BMG_DS054205,Familial renal glucosuria,UMLS ID:C3245525,Familial renal glucosuria | Familial renal glucosuria (disorder) | Renal glucosuria | Renal glucosuria (disorder),SNOMEDCT ID:226309007 | SNOMEDCT ID:1913007,,,familial renal glucosuria,MONDO:0009297,,,familial renal glucosuria,DOID:0070613,,OMIM ID:233100 +BMGC_DS14154,BMG_DS054214,MYOTONIC DYSTROPHY 1,UMLS ID:C3250443,,,,,myotonic dystrophy type 1,MONDO:0008056,,,,,,OMIM ID:605377 | OMIM ID:160900 +BMGC_DS14155,BMG_DS054515,Lupoid hepatitis NEC,UMLS ID:C3264460,,,Autoimmune hepatitis,ICD11 ID:DB96.0,,,,,,,ICD10 ID:K75.4, +BMGC_DS14156,BMG_DS054557,Mixed Astigmatism,UMLS ID:C3266021,,,,,,,Astigmatism,MeSH ID:D001251,,,, +BMGC_DS14157,BMG_DS054558,Oblique Astigmatism,UMLS ID:C3266022,,,,,,,Astigmatism,MeSH ID:D001251,,,, +BMGC_DS14158,BMG_DS054568,,UMLS ID:C3266076,,,,,orofacial cleft,MONDO:0000358,,,,,, +BMGC_DS14159,BMG_DS054592,Multiple Chronic Conditions,UMLS ID:C3266262,,,,,,,Multiple Chronic Conditions,MeSH ID:D000071069,,,, +BMGC_DS14160,BMG_DS054609,2-methyl-3-hydroxybutyric aciduria,UMLS ID:C3266731,2-methyl-3-hydroxybutyric aciduria (disorder) | 2-methyl-3-hydroxybutyric aciduria | HSD10 disease,SNOMEDCT ID:791000124107,,,HSD10 mitochondrial disease,MONDO:0010327,,,,,,OMIM ID:300438 | OMIM ID:300220 +BMGC_DS14161,BMG_DS054616,"Atypical Mycobacteriosis, Familial",UMLS ID:C3266863,,,,,inherited susceptibility to mycobacterial diseases,MONDO:0019146,"Mycobacterium Infections, Nontuberculous",MeSH ID:D009165,,,, +BMGC_DS14162,BMG_DS054618,Waardenburg Syndrome,UMLS ID:C3266898,,,,,Waardenburg syndrome,MONDO:0018094,Waardenburg Syndrome,MeSH ID:D014849,Waardenburg syndrome,DOID:9258,, +BMGC_DS14163,BMG_DS054641,,UMLS ID:C3272797,,,,,colon serrated polyposis,MONDO:0100290,,,,,, +BMGC_DS14164,BMG_DS054643,,UMLS ID:C3272802,,,,,gastrointestinal hamartoma,MONDO:0006231,,,,,, +BMGC_DS14165,BMG_DS054649,,UMLS ID:C3272841,,,,,familial adenomatous polyposis 2,MONDO:0012041,,,,,,OMIM ID:608456 +BMGC_DS14166,BMG_DS054656,,UMLS ID:C3274138,,,,,appendix L-cell glucagon-like peptide-producing neuroendocrine tumor,MONDO:0021101,,,appendiceal L-cell glucagon-like peptide producing tumor,DOID:8151,, +BMGC_DS14167,BMG_DS054657,,UMLS ID:C3274139,,,,,colonic L-cell glucagon-like peptide producing tumor,MONDO:0004210,,,colonic L-cell glucagon-like peptide producing tumor,DOID:7401,, +BMGC_DS14168,BMG_DS054658,,UMLS ID:C3274140,,,,,L-cell glucagon-like peptide-producing neuroendocrine tumor,MONDO:0004211,,,L-cell glucagon-like peptide producing tumor,DOID:7402,, +BMGC_DS14169,BMG_DS054659,,UMLS ID:C3274143,,,,,small intestinal L-cell glucagon-like peptide producing tumor,MONDO:0004252,,,small intestinal L-cell glucagon-like peptide producing tumor,DOID:7506,, +BMGC_DS14170,BMG_DS054663,"MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS",UMLS ID:C3275356,,,,,,,,,,,,OMIM ID:300422 +BMGC_DS14171,BMG_DS054664,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE",UMLS ID:C3275406,,,,,syndromic X-linked intellectual disability Raymond type,MONDO:0010427,,,,,,OMIM ID:300646 | OMIM ID:300799 +BMGC_DS14172,BMG_DS054665,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 96",UMLS ID:C3275408,,,,,"intellectual disability, X-linked 96",MONDO:0010429,,,non-syndromic X-linked intellectual disability 96,DOID:0112035,,OMIM ID:313475 | OMIM ID:300802 +BMGC_DS14173,BMG_DS054666,,UMLS ID:C3275438,,,,,"autism, susceptibility to, X-linked 5",MONDO:0010449,,,,,,OMIM ID:300847 +BMGC_DS14174,BMG_DS054667,,UMLS ID:C3275443,,,,,"intellectual disability, X-linked 90",MONDO:0010452,,,,,,OMIM ID:300850 +BMGC_DS14175,BMG_DS054668,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 88",UMLS ID:C3275444,,,,,"intellectual disability, X-linked 88",MONDO:0010454,,,non-syndromic X-linked intellectual disability 88,DOID:0112053,,OMIM ID:300852 +BMGC_DS14176,BMG_DS054669,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",UMLS ID:C3275445,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder)",SNOMEDCT ID:711481001,,,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",MONDO:0010455,,,,,,OMIM ID:300853 +BMGC_DS14177,BMG_DS054670,,UMLS ID:C3275446,,,,,"renal cell carcinoma, Xp11-associated",MONDO:0010456,,,,,,OMIM ID:300854 +BMGC_DS14178,BMG_DS054671,Ogden syndrome,UMLS ID:C3275447,"Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome | Ogden syndrome (disorder) | Ogden syndrome | Premature aging appearance, developmental delay, cardiac arrhythmia syndrome",SNOMEDCT ID:771442003,,,Ogden syndrome,MONDO:0010457,,,,,,OMIM ID:300855 +BMGC_DS14179,BMG_DS054673,AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,UMLS ID:C3275459,,,,,amyotrophic lateral sclerosis type 15,MONDO:0010459,,,amyotrophic lateral sclerosis type 15,DOID:0060206,,OMIM ID:300264 | OMIM ID:300857 +BMGC_DS14180,BMG_DS054674,,UMLS ID:C3275460,,,,,syndromic X-linked intellectual disability 17,MONDO:0010460,,,,,,OMIM ID:300858 +BMGC_DS14181,BMG_DS054675,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE",UMLS ID:C3275464,,,,,syndromic X-linked intellectual disability Nascimento type,MONDO:0010461,,,,,,OMIM ID:300860 | OMIM ID:312180 +BMGC_DS14182,BMG_DS054676,,UMLS ID:C3275471,,,,,syndromic X-linked intellectual disability Chudley-Schwartz type,MONDO:0010462,,,,,,OMIM ID:300861 +BMGC_DS14183,BMG_DS054677,"CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA",UMLS ID:C3275476,,,,,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",MONDO:0010463,,,"chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia",DOID:0112106,,OMIM ID:300272 | OMIM ID:300863 +BMGC_DS14184,BMG_DS054678,"X-linked cerebral, cerebellar, coloboma syndrome",UMLS ID:C3275487,"X-linked cerebral, cerebellar, coloboma syndrome (disorder) | X-linked intellectual disability Kroes type | X-linked cerebral, cerebellar, coloboma syndrome",SNOMEDCT ID:770604006,,,X-linked cerebral-cerebellar-coloboma syndrome syndrome,MONDO:0010464,,,,,,OMIM ID:300864 +BMGC_DS14185,BMG_DS054679,KABUKI SYNDROME 2,UMLS ID:C3275495,,,,,Kabuki syndrome 2,MONDO:0010465,,,,,,OMIM ID:300128 | OMIM ID:300867 +BMGC_DS14186,BMG_DS054680,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2,UMLS ID:C3275508,,,,,multiple congenital anomalies-hypotonia-seizures syndrome 2,MONDO:0010466,,,multiple congenital anomalies-hypotonia-seizures syndrome 2,DOID:0080139,,OMIM ID:300868 | OMIM ID:311770 +BMGC_DS14187,BMG_DS054681,CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME,UMLS ID:C3275521,,,,,Xq27.3q28 duplication syndrome,MONDO:0010467,,,,,,OMIM ID:300869 +BMGC_DS14188,BMG_DS054682,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 6",UMLS ID:C3275544,,,,,nonsyndromic congenital nail disorder 6,MONDO:0007135,,,nonsyndromic congenital nail disorder 6,DOID:0080084,,OMIM ID:107000 +BMGC_DS14189,BMG_DS054683,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16",UMLS ID:C3275558,,,,,,,,,,,,OMIM ID:300546 | OMIM ID:305400 +BMGC_DS14190,BMG_DS054684,,UMLS ID:C3275625,,,,,"omphalocele, X-linked",MONDO:0010696,,,,,,OMIM ID:310980 +BMGC_DS14191,BMG_DS054686,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1",UMLS ID:C3275684,,,,,"mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1",MONDO:0027069,,,mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1,DOID:0111748,,OMIM ID:500015 | OMIM ID:516060 +BMGC_DS14192,BMG_DS054688,,UMLS ID:C3275898,,,,,"renal dysplasia, cystic, susceptibility to",MONDO:0011037,,,,,,OMIM ID:601331 +BMGC_DS14193,BMG_DS054690,"LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME",UMLS ID:C3275954,,,,,lung agenesis-heart defect-thumb anomalies syndrome,MONDO:0011116,,,,,,OMIM ID:601612 +BMGC_DS14194,BMG_DS054691,,UMLS ID:C3275959,,,,,"leukemia, acute myeloid, susceptibility to",MONDO:0100173,,,,,, +BMGC_DS14195,BMG_DS054693,THROMBOCYTHEMIA 2,UMLS ID:C3275998,,,,,thrombocythemia 2,MONDO:0011173,,,,,,OMIM ID:159530 | OMIM ID:601977 +BMGC_DS14196,BMG_DS054695,ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS,UMLS ID:C3276096,,,,,atrial septal defect 7,MONDO:0007173,,,,,,OMIM ID:108900 +BMGC_DS14197,BMG_DS054696,"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2",UMLS ID:C3276161,,,,,"arterial calcification, generalized, of infancy, 2",MONDO:0013768,,,,,,OMIM ID:614473 | OMIM ID:603234 +BMGC_DS14198,BMG_DS054697,ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE,UMLS ID:C3276228,,,,,Acrodysostosis 1 with or without hormone resistance,MONDO:0007044,,,,,,OMIM ID:101800 +BMGC_DS14199,BMG_DS054698,"LONG QT SYNDROME 2/3, DIGENIC",UMLS ID:C3276240,,,,,,,,,,,,OMIM ID:600163 | OMIM ID:603830 | OMIM ID:613688 | OMIM ID:152427 +BMGC_DS14200,BMG_DS054699,"LONG QT SYNDROME 3/6, DIGENIC",UMLS ID:C3276241,,,,,,,,,,,,OMIM ID:600163 | OMIM ID:603796 | OMIM ID:603830 | OMIM ID:613693 +BMGC_DS14201,BMG_DS054700,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1",UMLS ID:C3276276,,,,,"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",MONDO:0011421,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 1,DOID:0050768,,OMIM ID:604273 | OMIM ID:608918 +BMGC_DS14202,BMG_DS054702,Multiple mitochondrial dysfunctions syndrome type 1,UMLS ID:C3276432,MMDS1 - multiple mitochondrial dysfunctions syndrome type 1 | Multiple mitochondrial dysfunctions syndrome type 1 | Multiple mitochondrial dysfunctions syndrome type 1 (disorder) | NFU1 (NFU1 iron-sulfur cluster scaffold) deficiency,SNOMEDCT ID:1208485009,,,multiple mitochondrial dysfunctions syndrome 1,MONDO:0011582,,,,,,OMIM ID:605711 +BMGC_DS14203,BMG_DS054703,"CUTIS LAXA, AUTOSOMAL DOMINANT 1",UMLS ID:C3276539,,,,,"cutis laxa, autosomal dominant 1",MONDO:0007411,,,,,,OMIM ID:130160 | OMIM ID:123700 +BMGC_DS14204,BMG_DS054704,"OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY",UMLS ID:C3276549,,,,,"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",MONDO:0007429,,,dominant optic atrophy plus syndrome,DOID:0111340,,OMIM ID:605290 | OMIM ID:125250 +BMGC_DS14205,BMG_DS054707,Small Fiber Neuropathy,UMLS ID:C3276706,,,,,"neuropathy, small fiber",MONDO:0800207,Small Fiber Neuropathy,MeSH ID:D000071075,,,, +BMGC_DS14206,BMG_DS054713,KOILONYCHIA WITH LEUKONYCHIA,UMLS ID:C3276971,,,,,,,,,nonsyndromic congenital nail disorder 2,DOID:0080080,,OMIM ID:149300 +BMGC_DS14207,BMG_DS054714,"BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT",UMLS ID:C3277076,,,,,"Bernard-Soulier syndrome, type A2, autosomal dominant",MONDO:0007930,,,Bernard-Soulier syndrome type A2,DOID:0111059,,OMIM ID:606672 | OMIM ID:153670 +BMGC_DS14208,BMG_DS054715,CHROMOSOME 2q23.1 DELETION SYNDROME,UMLS ID:C3277090,,,,,,,,,autosomal dominant intellectual developmental disorder 1,DOID:0070031,,OMIM ID:156200 +BMGC_DS14209,BMG_DS054717,"OMPHALOCELE, AUTOSOMAL",UMLS ID:C3277235,,,,,"omphalocele, autosomal",MONDO:0008124,,,,,,OMIM ID:164750 +BMGC_DS14210,BMG_DS054719,THROMBOCYTHEMIA 1,UMLS ID:C3277671,,,,,thrombocythemia 1,MONDO:0008554,,,,,,OMIM ID:600044 | OMIM ID:187950 +BMGC_DS14211,BMG_DS054721,"LONG QT SYNDROME 1/2, DIGENIC",UMLS ID:C3277700,,,,,,,,,,,,OMIM ID:192500 | OMIM ID:152427 | OMIM ID:607542 | OMIM ID:613688 +BMGC_DS14212,BMG_DS054722,,UMLS ID:C3277701,,,,,vitiligo-associated multiple autoimmune disease susceptibility 6,MONDO:0700077,,,,,,OMIM ID:193200 +BMGC_DS14213,BMG_DS054723,JOUBERT SYNDROME 12,UMLS ID:C3277723,,,,,,,,,,,,OMIM ID:200990 | OMIM ID:611254 +BMGC_DS14214,BMG_DS054724,"17,20-Lyase Deficiency, Isolated",UMLS ID:C3277849,,,,,"17,20-lyase deficiency, isolated",MONDO:0800378,,MeSH ID:C567076,,,, +BMGC_DS14215,BMG_DS054725,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4",UMLS ID:C3277900,,,,,,,,,,,,OMIM ID:206800 | OMIM ID:610573 +BMGC_DS14216,BMG_DS054727,FIBROCHONDROGENESIS 1,UMLS ID:C3278138,,,,,fibrochondrogenesis 1,MONDO:0009226,,,fibrochondrogenesis 1,DOID:0080672,,OMIM ID:228520 +BMGC_DS14217,BMG_DS054728,"GALACTOSEMIA, DUARTE VARIANT",UMLS ID:C3278146,,,,,,,,,,,,OMIM ID:230400 | OMIM ID:606999 +BMGC_DS14218,BMG_DS054729,GELEOPHYSIC DYSPLASIA 1,UMLS ID:C3278147,,,,,geleophysic dysplasia 1,MONDO:0009269,,,geleophysic dysplasia 1,DOID:0111725,,OMIM ID:231050 | OMIM ID:612277 +BMGC_DS14219,BMG_DS054730,"BERNARD-SOULIER SYNDROME, TYPE A1",UMLS ID:C3278148,,,,,,,,,,,,OMIM ID:231200 | OMIM ID:606672 +BMGC_DS14220,BMG_DS054731,"GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET",UMLS ID:C3278152,,,,,,,,,,,,OMIM ID:137760 | OMIM ID:231300 | OMIM ID:601771 +BMGC_DS14221,BMG_DS054732,"GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",UMLS ID:C3278153,,,,,,,,,,,,OMIM ID:231300 | OMIM ID:601771 +BMGC_DS14222,BMG_DS054733,GLUTARIC ACIDEMIA IIA,UMLS ID:C3278154,,,,,glutaric acidemia IIa,MONDO:0700073,,,,,,OMIM ID:231680 | OMIM ID:608053 +BMGC_DS14223,BMG_DS054734,GLUTARIC ACIDEMIA IIB,UMLS ID:C3278155,,,,,glutaric acidemia IIb,MONDO:0700074,,,,,,OMIM ID:130410 | OMIM ID:231680 +BMGC_DS14224,BMG_DS054735,GLUTARIC ACIDEMIA IIC,UMLS ID:C3278156,,,,,glutaric acidemia IIc,MONDO:0700076,,,,,,OMIM ID:231675 | OMIM ID:231680 +BMGC_DS14225,BMG_DS054738,"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT",UMLS ID:C3278211,,,,,"thrombophilia due to protein S deficiency, autosomal dominant",MONDO:0012868,,,autosomal dominant thrombophilia due to protein S deficiency,DOID:0111900,,OMIM ID:176880 | OMIM ID:612336 +BMGC_DS14226,BMG_DS054742,"ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, FAMILIAL",UMLS ID:C3278302,,,,,allergic bronchopulmonary aspergillosis,MONDO:0015243,,,,,,OMIM ID:103920 +BMGC_DS14227,BMG_DS054745,HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY,UMLS ID:C3278384,,,,,hypoinsulinemic hypoglycemia and body hemihypertrophy,MONDO:0009416,,,hypoinsulinemic hypoglycemia with hemihypertrophy,DOID:0112263,,OMIM ID:240900 +BMGC_DS14228,BMG_DS054746,"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS",UMLS ID:C3278404,,,,,"Larsen-like syndrome, B3GAT3 type",MONDO:0009511,,,Larsen-like syndrome B3GAT3 type,DOID:0080575,,OMIM ID:245600 +BMGC_DS14229,BMG_DS054747,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1",UMLS ID:C3278481,,,,,microcephaly and chorioretinopathy 1,MONDO:0009624,,,microcephaly and chorioretinopathy 1,DOID:0080105,,OMIM ID:251270 | OMIM ID:610053 +BMGC_DS14230,BMG_DS054749,OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA,UMLS ID:C3278622,,,,,orotic aciduria without megaloblastic anemia,MONDO:0800308,,,orotic aciduria,DOID:0050833,,OMIM ID:258900 +BMGC_DS14231,BMG_DS054750,"LIVER FAILURE, INFANTILE, TRANSIENT",UMLS ID:C3278664,,,,,acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,MONDO:0013111,,,transient infantile liver failure,DOID:0080778,,OMIM ID:613070 | OMIM ID:610230 +BMGC_DS14232,BMG_DS054756,"LONG QT SYNDROME 2/5, DIGENIC",UMLS ID:C3279092,,,,,,,,,,,,OMIM ID:152427 | OMIM ID:176261 | OMIM ID:613688 | OMIM ID:613695 +BMGC_DS14233,BMG_DS054757,JOUBERT SYNDROME 11,UMLS ID:C3279203,,,,,Joubert syndrome 11,MONDO:0800382,,,nephronophthisis 12,DOID:0111119,,OMIM ID:613820 +BMGC_DS14234,BMG_DS054763,HYPOTRICHOSIS 8,UMLS ID:C3279470,,,,,hypotrichosis 8,MONDO:0010206,,,hypotrichosis 8,DOID:0110705,,OMIM ID:278150 | OMIM ID:609239 +BMGC_DS14235,BMG_DS054764,Cryptozoospermia,UMLS ID:C3279550,,,,,,,Oligospermia,MeSH ID:D009845,,,,OMIM ID:MTHU034825 +BMGC_DS14236,BMG_DS054766,"HEMOGLOBIN H DISEASE, NONDELETIONAL",UMLS ID:C3279561,,,,,,,,,,,,OMIM ID:141800 | OMIM ID:141850 | OMIM ID:613978 +BMGC_DS14237,BMG_DS054767,"Osteogenesis Imperfecta, Type VI",UMLS ID:C3279564,,,,,osteogenesis imperfecta type 6,MONDO:0013515,,MeSH ID:C536047,,,,OMIM ID:613982 +BMGC_DS14238,BMG_DS054768,,UMLS ID:C3279614,,,,,"bleeding disorder, platelet-type, 13, susceptibility to",MONDO:0800447,,,,,,OMIM ID:614009 +BMGC_DS14239,BMG_DS054770,Glyoxalase II Deficiency,UMLS ID:C3279657,,,,,hydroxyacyl glutathione hydrolase deficiency,MONDO:0013535,,MeSH ID:C564215,,,,OMIM ID:614033 +BMGC_DS14240,BMG_DS054771,"DEAFNESS, AUTOSOMAL RECESSIVE 29",UMLS ID:C3279660,,,,,autosomal recessive nonsyndromic hearing loss 29,MONDO:0013537,,,,,,OMIM ID:605608 | OMIM ID:614035 +BMGC_DS14241,BMG_DS054773,Leukotriene C4 Synthase Deficiency,UMLS ID:C3279662,,,,,hypotonia-failure to thrive-microcephaly syndrome,MONDO:0013539,,MeSH ID:C565439,,,,OMIM ID:614037 +BMGC_DS14242,BMG_DS054774,Emberger Syndrome,UMLS ID:C3279664,,,,,deafness-lymphedema-leukemia syndrome,MONDO:0013540,GATA2 Deficiency,MeSH ID:D000077428,immunodeficiency 21,DOID:0111947,,OMIM ID:614038 +BMGC_DS14243,BMG_DS054775,Perisylvian polymicrogyria,UMLS ID:C3279675,,,,,,,,,,,,OMIM ID:MTHU055355 +BMGC_DS14244,BMG_DS054776,MOYAMOYA DISEASE 5,UMLS ID:C3279690,,,,,Moyamoya disease 5,MONDO:0013542,,,,,,OMIM ID:614042 | OMIM ID:102620 +BMGC_DS14245,BMG_DS054777,"ATRIAL FIBRILLATION, FAMILIAL, 11",UMLS ID:C3279693,,,,,"atrial fibrillation, familial, 11",MONDO:0013544,,,,,,OMIM ID:614049 | OMIM ID:121013 +BMGC_DS14246,BMG_DS054778,"ATRIAL FIBRILLATION, FAMILIAL, 12",UMLS ID:C3279695,,,,,"atrial fibrillation, familial, 12",MONDO:0013545,,,,,,OMIM ID:601439 | OMIM ID:614050 +BMGC_DS14247,BMG_DS054779,"Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",UMLS ID:C3279699,,,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 2,MONDO:0013546,,MeSH ID:C567528,,,,OMIM ID:614052 +BMGC_DS14248,BMG_DS054780,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3",UMLS ID:C3279708,,,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 3,MONDO:0013547,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 3,DOID:0060332,,OMIM ID:606153 | OMIM ID:614053 +BMGC_DS14249,BMG_DS054781,N-ACETYLASPARTATE DEFICIENCY,UMLS ID:C3279716,,,,,N-acetylaspartate deficiency,MONDO:0013549,,,,,,OMIM ID:610647 | OMIM ID:614063 +BMGC_DS14250,BMG_DS054782,"MYOPATHY, DISTAL, 4",UMLS ID:C3279722,,,,,distal myopathy with posterior leg and anterior hand involvement,MONDO:0013550,,,distal myopathy 4,DOID:0111190,,OMIM ID:102565 | OMIM ID:614065 +BMGC_DS14251,BMG_DS054783,"SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE",UMLS ID:C3279738,,,,,hereditary spastic paraplegia 47,MONDO:0013551,,,hereditary spastic paraplegia 47,DOID:0110799,,OMIM ID:607245 | OMIM ID:614066 +BMGC_DS14252,BMG_DS054784,"SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE",UMLS ID:C3279743,,,,,hereditary spastic paraplegia 52,MONDO:0013552,,,hereditary spastic paraplegia 52,DOID:0110804,,OMIM ID:614067 | OMIM ID:607243 +BMGC_DS14253,BMG_DS054785,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2,UMLS ID:C3279748,,,,,immunodeficiency-centromeric instability-facial anomalies syndrome 2,MONDO:0013553,,,,,,OMIM ID:614064 | OMIM ID:614069 +BMGC_DS14254,BMG_DS054786,,UMLS ID:C3279754,,,,,"psoriasis 13, susceptibility to",MONDO:0013554,,,,,,OMIM ID:614070 +BMGC_DS14255,BMG_DS054787,HERMANSKY-PUDLAK SYNDROME 7,UMLS ID:C3279756,,,,,Hermansky-Pudlak syndrome 7,MONDO:0013559,,,Hermansky-Pudlak syndrome 7,DOID:0060545,,OMIM ID:607145 | OMIM ID:614076 +BMGC_DS14256,BMG_DS054788,Chondrodysplasia with joint dislocations gPAPP type,UMLS ID:C3279757,Chondrodysplasia with joint dislocations gPAPP type (disorder) | Chondrodysplasia with joint dislocations gPAPP type,SNOMEDCT ID:782882009,,,"chondrodysplasia with joint dislocations, gPAPP type",MONDO:0013561,,,,,,OMIM ID:614078 +BMGC_DS14257,BMG_DS054790,,UMLS ID:C3279774,,,,,"aspergillosis, susceptibility to",MONDO:0013562,,,,,,OMIM ID:614079 +BMGC_DS14258,BMG_DS054791,,UMLS ID:C3279775,,,,,multiple congenital anomalies-hypotonia-seizures syndrome 1,MONDO:0013563,,,,,,OMIM ID:614080 +BMGC_DS14259,BMG_DS054792,ANHAPTOGLOBINEMIA,UMLS ID:C3279786,,,,,anhaptoglobinemia,MONDO:0013564,,,,,,OMIM ID:140100 | OMIM ID:614081 +BMGC_DS14260,BMG_DS054793,HYPOHAPTOGLOBINEMIA,UMLS ID:C3279787,,,,,,,,,,,,OMIM ID:140100 | OMIM ID:614081 +BMGC_DS14261,BMG_DS054794,Atrial Septal Defect 3,UMLS ID:C3279790,,,,,atrial septal defect 3,MONDO:0013567,,MeSH ID:C563540,,,,OMIM ID:614089 +BMGC_DS14262,BMG_DS054795,,UMLS ID:C3279791,,,,,"sick sinus syndrome 3, susceptibility to",MONDO:0013568,,,,,,OMIM ID:614090 +BMGC_DS14263,BMG_DS054796,SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C3279792,,,,,short-rib thoracic dysplasia 7 with or without polydactyly,MONDO:0013569,,,,,,OMIM ID:614091 +BMGC_DS14264,BMG_DS054797,Keppen Lubinsky syndrome,UMLS ID:C3279800,"Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome | Keppen Lubinsky syndrome (disorder) | Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome | Keppen Lubinsky syndrome",SNOMEDCT ID:1220589007,,,Keppen-Lubinsky syndrome,MONDO:0013572,,,,,,OMIM ID:614098 +BMGC_DS14265,BMG_DS054798,CRANIOECTODERMAL DYSPLASIA 3,UMLS ID:C3279807,,,,,cranioectodermal dysplasia 3,MONDO:0013573,,,cranioectodermal dysplasia 3,DOID:0080805,,OMIM ID:614068 | OMIM ID:614099 +BMGC_DS14266,BMG_DS054799,Kappa-Chain Deficiency,UMLS ID:C3279824,,,,,recurrent infections associated with rare immunoglobulin isotypes deficiency,MONDO:0013576,,MeSH ID:C564131,,,,OMIM ID:614102 +BMGC_DS14267,BMG_DS054800,Methylmalonate Semialdehyde Dehydrogenase Deficiency,UMLS ID:C3279840,,,,,methylmalonate semialdehyde dehydrogenase deficiency,MONDO:0013579,,MeSH ID:C566402,,,,OMIM ID:614105 +BMGC_DS14268,BMG_DS054801,Pyruvate Dehydrogenase E1-Beta Deficiency,UMLS ID:C3279841,,,,,pyruvate dehydrogenase E1-beta deficiency,MONDO:0013580,,MeSH ID:C566729,,,,OMIM ID:614111 +BMGC_DS14269,BMG_DS054802,,UMLS ID:C3279842,,,,,"intellectual disability, autosomal dominant 2",MONDO:0013581,,,,,,OMIM ID:614113 +BMGC_DS14270,BMG_DS054803,,UMLS ID:C3279843,,,,,mosaic variegated aneuploidy syndrome 2,MONDO:0013582,,,,,,OMIM ID:614114 +BMGC_DS14271,BMG_DS054804,"CORTICAL MALFORMATIONS, OCCIPITAL",UMLS ID:C3279875,,,,,occipital pachygyria and polymicrogyria,MONDO:0013583,,,,,,OMIM ID:614115 | OMIM ID:604349 +BMGC_DS14272,BMG_DS054806,Hereditary Sensory and Autonomic Neuropathy Type Ie,UMLS ID:C3279885,,,,,hereditary sensory neuropathy-deafness-dementia syndrome,MONDO:0013584,,MeSH ID:C580162,,,,OMIM ID:614116 +BMGC_DS14273,BMG_DS054807,,UMLS ID:C3279899,,,,,hydrolethalus syndrome 2,MONDO:0013585,,,,,,OMIM ID:614120 +BMGC_DS14274,BMG_DS054808,CHITOTRIOSIDASE DEFICIENCY,UMLS ID:C3279902,,,,,,,,,,,,OMIM ID:614122 | OMIM ID:600031 +BMGC_DS14275,BMG_DS054809,Lactate Dehydrogenase B Deficiency,UMLS ID:C3279904,,,,,glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,MONDO:0013587,,MeSH ID:C563641,,,,OMIM ID:614128 +BMGC_DS14276,BMG_DS054810,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6,UMLS ID:C3279905,,,,,focal segmental glomerulosclerosis 6,MONDO:0013589,,,,,,OMIM ID:614131 | OMIM ID:601479 +BMGC_DS14277,BMG_DS054811,"STICKLER SYNDROME, TYPE IV",UMLS ID:C3279941,,,,,"Stickler syndrome, type 4",MONDO:0013590,,,,,,OMIM ID:120210 | OMIM ID:614134 +BMGC_DS14278,BMG_DS054812,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9",UMLS ID:C3279947,,,,,nonsyndromic congenital nail disorder 9,MONDO:0013592,,,nonsyndromic congenital nail disorder 9,DOID:0080087,,OMIM ID:614149 +BMGC_DS14279,BMG_DS054813,"DEAFNESS, AUTOSOMAL DOMINANT 64",UMLS ID:C3279948,,,,,autosomal dominant nonsyndromic hearing loss 64,MONDO:0013593,,,,,,OMIM ID:605219 | OMIM ID:614152 +BMGC_DS14280,BMG_DS054814,Hyperbiliverdinemia,UMLS ID:C3279964,Hyperbiliverdinaemia | Hyperbiliverdinemia (disorder) | Hyperbiliverdinemia,SNOMEDCT ID:771441005,,,hyperbiliverdinemia,MONDO:0013595,,,,,,OMIM ID:614156 +BMGC_DS14281,BMG_DS054815,"CANDIDIASIS, FAMILIAL, 7",UMLS ID:C3279990,,,,,autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome,MONDO:0013599,,,immunodeficiency 31C,DOID:0111946,,OMIM ID:614162 +BMGC_DS14282,BMG_DS054816,,UMLS ID:C3279991,,,,,"delayed sleep phase syndrome, susceptibility to",MONDO:0800001,,,,,,OMIM ID:614163 +BMGC_DS14283,BMG_DS054817,PARAGANGLIOMAS 5,UMLS ID:C3279992,,,,,paragangliomas 5,MONDO:0013602,,,,,,OMIM ID:614165 +BMGC_DS14284,BMG_DS054819,"MYOPIA 21, AUTOSOMAL DOMINANT",UMLS ID:C3279997,,,,,"myopia 21, autosomal dominant",MONDO:0013604,,,,,,OMIM ID:614159 | OMIM ID:614167 +BMGC_DS14285,BMG_DS054820,BRITTLE CORNEA SYNDROME 2,UMLS ID:C3280011,,,,,brittle cornea syndrome 2,MONDO:0013605,,,brittle cornea syndrome 2,DOID:0080729,,OMIM ID:614161 | OMIM ID:614170 +BMGC_DS14286,BMG_DS054821,Developmental Dysplasia of the Hip,UMLS ID:C3280020,,,,,,,Developmental Dysplasia of the Hip,MeSH ID:D000082602,developmental dysplasia of the hip,DOID:0060930,, +BMGC_DS14287,BMG_DS054822,HERMANSKY-PUDLAK SYNDROME 9,UMLS ID:C3280026,,,,,Hermansky-Pudlak syndrome 9,MONDO:0013606,,,Hermansky-Pudlak syndrome 9,DOID:0060547,,OMIM ID:614171 | OMIM ID:604310 +BMGC_DS14288,BMG_DS054823,GATA2 Deficiency,UMLS ID:C3280030,,,,,monocytopenia with susceptibility to infections,MONDO:0013607,GATA2 Deficiency,MeSH ID:D000077428,immunodeficiency 21,DOID:0111947,,OMIM ID:614172 +BMGC_DS14289,BMG_DS054824,JOUBERT SYNDROME 13,UMLS ID:C3280031,,,,,Joubert syndrome 13,MONDO:0013608,,,Joubert syndrome 13,DOID:0110982,,OMIM ID:609863 | OMIM ID:614173 +BMGC_DS14290,BMG_DS054825,"MECKEL SYNDROME, TYPE 10",UMLS ID:C3280036,,,,,"Meckel syndrome, type 10",MONDO:0013609,,,,,,OMIM ID:611951 | OMIM ID:614175 +BMGC_DS14291,BMG_DS054826,RETINITIS PIGMENTOSA 61,UMLS ID:C3280041,,,,,retinitis pigmentosa 61,MONDO:0013610,,,,,,OMIM ID:606397 | OMIM ID:614180 +BMGC_DS14292,BMG_DS054827,RETINITIS PIGMENTOSA 62,UMLS ID:C3280042,,,,,retinitis pigmentosa 62,MONDO:0013611,,,,,,OMIM ID:154235 | OMIM ID:614181 +BMGC_DS14293,BMG_DS054828,GELEOPHYSIC DYSPLASIA 2,UMLS ID:C3280054,,,,,geleophysic dysplasia 2,MONDO:0013612,,,geleophysic dysplasia 2,DOID:0111726,,OMIM ID:134797 | OMIM ID:614185 +BMGC_DS14294,BMG_DS054829,LEBER CONGENITAL AMAUROSIS 16,UMLS ID:C3280062,,,,,Leber congenital amaurosis 16,MONDO:0013613,,,,,,OMIM ID:614186 | OMIM ID:603208 +BMGC_DS14295,BMG_DS054830,CRANIOSYNOSTOSIS AND DENTAL ANOMALIES,UMLS ID:C3280073,,,,,craniosynostosis and dental anomalies,MONDO:0013615,,,,,,OMIM ID:614188 | OMIM ID:600939 +BMGC_DS14296,BMG_DS054831,"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3",UMLS ID:C3280094,,,,,"pigmented nodular adrenocortical disease, primary, 3",MONDO:0013616,,,primary pigmented nodular adrenocortical disease 3,DOID:0070548,,OMIM ID:603390 | OMIM ID:614190 +BMGC_DS14297,BMG_DS054832,CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME,UMLS ID:C3280099,,,,,craniofacial anomalies and anterior segment dysgenesis syndrome,MONDO:0013618,,,,,,OMIM ID:605020 | OMIM ID:614195 +BMGC_DS14298,BMG_DS054833,"NEPHROTIC SYNDROME, TYPE 6",UMLS ID:C3280100,,,,,"nephrotic syndrome, type 6",MONDO:0013619,,,nephrotic syndrome type 6,DOID:0080384,,OMIM ID:600579 | OMIM ID:614196 +BMGC_DS14299,BMG_DS054834,"MYASTHENIC SYNDROME, CONGENITAL, 16",UMLS ID:C3280112,,,,,congenital myasthenic syndrome 16,MONDO:0013620,,,congenital myasthenic syndrome 16,DOID:0110682,,OMIM ID:603967 | OMIM ID:614198 +BMGC_DS14300,BMG_DS054835,"NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES",UMLS ID:C3280113,,,,,LAMB2-related infantile-onset nephrotic syndrome,MONDO:0013621,,,nephrotic syndrome type 5,DOID:0080380,,OMIM ID:614199 | OMIM ID:249660 | OMIM ID:614199 +BMGC_DS14301,BMG_DS054836,Glycoprotein IA Deficiency,UMLS ID:C3280114,,,,,platelet-type bleeding disorder 9,MONDO:0013622,,MeSH ID:C566000,,,,OMIM ID:614200 +BMGC_DS14302,BMG_DS054837,Glycoprotein VI deficiency,UMLS ID:C3280120,Bleeding disorder due to glycoprotein VI deficiency (disorder) | Bleeding disorder due to glycoprotein VI deficiency | Glycoprotein VI deficiency | Bleeding disorder platelet-type 11,SNOMEDCT ID:765977002,,,platelet-type bleeding disorder 11,MONDO:0013623,,,,,,OMIM ID:614201 +BMGC_DS14303,BMG_DS054838,RAFIQ SYNDROME,UMLS ID:C3280127,,,,,Rafiq syndrome,MONDO:0013624,,,Rafiq syndrome,DOID:0081097,,OMIM ID:614202 | OMIM ID:604346 +BMGC_DS14304,BMG_DS054839,PARKINSON DISEASE 17,UMLS ID:C3280133,,,,,Parkinson disease 17,MONDO:0013625,,,Parkinson's disease 17,DOID:0060897,,OMIM ID:601501 | OMIM ID:614203 +BMGC_DS14305,BMG_DS054840,THREE M SYNDROME 3,UMLS ID:C3280146,,,,,3M syndrome 3,MONDO:0013627,,,3-M syndrome,DOID:0060241,,OMIM ID:614145 | OMIM ID:614205 +BMGC_DS14306,BMG_DS054841,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3,UMLS ID:C3280153,,,,,hyperphosphatasia with intellectual disability syndrome 3,MONDO:0013628,,,hyperphosphatasia with impaired intellectual development syndrome 3,DOID:0070435,,OMIM ID:614207 | OMIM ID:615187 +BMGC_DS14307,BMG_DS054842,,UMLS ID:C3280154,,,,,"intellectual disability, autosomal recessive 16",MONDO:0013629,,,,,,OMIM ID:614208 +BMGC_DS14308,BMG_DS054843,"MECKEL SYNDROME, TYPE 9",UMLS ID:C3280155,,,,,"Meckel syndrome, type 9",MONDO:0013630,,,,,,OMIM ID:614144 | OMIM ID:614209 +BMGC_DS14309,BMG_DS054845,,UMLS ID:C3280160,,,,,"encephalopathy, acute, infection-induced, susceptibility to, 4",MONDO:0013633,,,,,,OMIM ID:614212 +BMGC_DS14310,BMG_DS054846,"NEUROPATHY, HEREDITARY SENSORY, TYPE IIC",UMLS ID:C3280168,,,,,"neuropathy, hereditary sensory, type 2C",MONDO:0013634,,,hereditary sensory neuropathy type 2C,DOID:0070147,,OMIM ID:601255 | OMIM ID:614213 +BMGC_DS14311,BMG_DS054847,ADAMS-OLIVER SYNDROME 2,UMLS ID:C3280182,,,,,Adams-Oliver syndrome 2,MONDO:0013635,,,,,,OMIM ID:614219 | OMIM ID:614194 +BMGC_DS14312,BMG_DS054848,"BILIARY CIRRHOSIS, PRIMARY, 4",UMLS ID:C3280201,,,,,primary biliary cholangitis 4,MONDO:0013636,,,primary biliary cholangitis 4,DOID:0070361,,OMIM ID:614220 +BMGC_DS14313,BMG_DS054849,"BILIARY CIRRHOSIS, PRIMARY, 5",UMLS ID:C3280202,,,,,primary biliary cholangitis 5,MONDO:0013637,,,primary biliary cholangitis 5,DOID:0070362,,OMIM ID:614221 +BMGC_DS14314,BMG_DS054850,WARBURG MICRO SYNDROME 3,UMLS ID:C3280203,,,,,Warburg micro syndrome 3,MONDO:0013638,,,,,,OMIM ID:602207 | OMIM ID:614222 +BMGC_DS14315,BMG_DS054852,RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS,UMLS ID:C3280205,,,,,familial retinal arterial macroaneurysm,MONDO:0013640,,,,,,OMIM ID:614224 +BMGC_DS14316,BMG_DS054854,WARBURG MICRO SYNDROME 2,UMLS ID:C3280214,,,,,Warburg micro syndrome 2,MONDO:0013641,,,,,,OMIM ID:609275 | OMIM ID:614225 +BMGC_DS14317,BMG_DS054855,HOLOPROSENCEPHALY 11,UMLS ID:C3280215,,,,,holoprosencephaly 11,MONDO:0013642,,,holoprosencephaly 11,DOID:0110877,,OMIM ID:608707 | OMIM ID:614226 +BMGC_DS14318,BMG_DS054856,"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3",UMLS ID:C3280216,,,,,"hyperuricemic nephropathy, familial juvenile type 3",MONDO:0013643,,,,,,OMIM ID:614227 +BMGC_DS14319,BMG_DS054857,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",UMLS ID:C3280220,,,,,Charcot-Marie-Tooth disease axonal type 2O,MONDO:0013644,,,,,,OMIM ID:600112 | OMIM ID:614228 +BMGC_DS14320,BMG_DS054858,CHROMOSOME 8q21.11 DELETION SYNDROME,UMLS ID:C3280231,,,,,chromosome 8q21.11 deletion syndrome,MONDO:0013646,,,,,,OMIM ID:614230 +BMGC_DS14321,BMG_DS054859,"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 1",UMLS ID:C3280240,,,,,"microcephaly, epilepsy, and diabetes syndrome",MONDO:0100328,,,,,,OMIM ID:614231 | OMIM ID:609382 +BMGC_DS14322,BMG_DS054860,HYPOTRICHOSIS 9,UMLS ID:C3280252,,,,,hypotrichosis 9,MONDO:0013649,,,hypotrichosis 9,DOID:0110706,,OMIM ID:614237 +BMGC_DS14323,BMG_DS054861,HYPOTRICHOSIS 10,UMLS ID:C3280253,,,,,hypotrichosis 10,MONDO:0013650,,,hypotrichosis 10,DOID:0110707,,OMIM ID:614238 +BMGC_DS14324,BMG_DS054862,,UMLS ID:C3280265,,,,,"intellectual disability, autosomal recessive 18",MONDO:0013651,,,,,,OMIM ID:614249 +BMGC_DS14325,BMG_DS054863,NARCOLEPSY 7,UMLS ID:C3280266,,,,,narcolepsy 7,MONDO:0013652,,,,,,OMIM ID:614250 | OMIM ID:159465 +BMGC_DS14326,BMG_DS054864,,UMLS ID:C3280271,,,,,"Parkinson disease 18, autosomal dominant, susceptibility to",MONDO:0013653,,,,,,OMIM ID:614251 +BMGC_DS14327,BMG_DS054865,"ANEURYSM, INTRACRANIAL BERRY, 11",UMLS ID:C3280275,,,,,"aneurysm, intracranial berry, 11",MONDO:0013654,,,intracranial berry aneurysm 11,DOID:0080974,,OMIM ID:614252 +BMGC_DS14328,BMG_DS054866,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT",UMLS ID:C3280282,,,,,"intellectual disability, autosomal dominant 8",MONDO:0013655,,,autosomal dominant intellectual developmental disorder 8,DOID:0070038,,OMIM ID:614254 +BMGC_DS14329,BMG_DS054867,,UMLS ID:C3280283,,,,,,,,,NESCAV syndrome,DOID:0070039,, +BMGC_DS14330,BMG_DS054868,,UMLS ID:C3280284,,,,,"intellectual disability, autosomal dominant 10",MONDO:0013657,,,,,,OMIM ID:614256 +BMGC_DS14331,BMG_DS054869,CHROMOSOME 20q11-q12 DELETION SYNDROME,UMLS ID:C3280285,,,,,"intellectual disability, autosomal dominant 11",MONDO:0013658,,,autosomal dominant intellectual developmental disorder 11,DOID:0070041,,OMIM ID:614257 +BMGC_DS14332,BMG_DS054870,Microcephaly-capillary malformation syndrome,UMLS ID:C3280296,Microcephaly-capillary malformation syndrome | Microcephaly-capillary malformation syndrome (disorder),SNOMEDCT ID:703369003,,,microcephaly-capillary malformation syndrome,MONDO:0013659,,,,,,OMIM ID:614261 +BMGC_DS14333,BMG_DS054871,"ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY",UMLS ID:C3280309,,,,,"arthrogryposis, Perthes disease, and upward gaze palsy",MONDO:0013660,,,,,,OMIM ID:609798 | OMIM ID:614262 +BMGC_DS14334,BMG_DS054872,Combined Malonic and Methylmalonic Aciduria,UMLS ID:C3280314,,,,,combined malonic and methylmalonic acidemia,MONDO:0013661,,MeSH ID:C580002,combined malonic and methylmalonic acidemia,DOID:0111263,,OMIM ID:614265 +BMGC_DS14335,BMG_DS054873,Platelet-Activating Factor Acetylhydrolase Deficiency,UMLS ID:C3280315,,,,,platelet-activating factor acetylhydrolase deficiency,MONDO:0013663,,MeSH ID:C566640,,,,OMIM ID:614278 +BMGC_DS14336,BMG_DS054874,,UMLS ID:C3280332,,,,,"epilepsy, juvenile myoclonic, susceptibility to, 9",MONDO:0013665,,,,,,OMIM ID:614280 +BMGC_DS14337,BMG_DS054875,"STICKLER SYNDROME, TYPE V",UMLS ID:C3280342,,,,,"Stickler syndrome, type 5",MONDO:0013666,,,,,,OMIM ID:614284 +BMGC_DS14338,BMG_DS054876,,UMLS ID:C3280345,,,,,"breast-ovarian cancer, familial, susceptibility to, 4",MONDO:0013669,,,,,,OMIM ID:614291 +BMGC_DS14339,BMG_DS054877,"MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION",UMLS ID:C3280346,,,,,"myopia, high, with cataract and vitreoretinal degeneration",MONDO:0013670,,,,,,OMIM ID:610341 | OMIM ID:614292 +BMGC_DS14340,BMG_DS054878,"HYDATIDIFORM MOLE, RECURRENT, 2",UMLS ID:C3280352,,,,,"hydatidiform mole, recurrent, 2",MONDO:0013671,,,,,,OMIM ID:611687 | OMIM ID:614293 +BMGC_DS14341,BMG_DS054879,CHROMOSOME 15q25 DELETION SYNDROME,UMLS ID:C3280355,,,,,chromosome 15q25 deletion syndrome,MONDO:0013672,,,chromosome 15q25 deletion syndrome,DOID:0060396,,OMIM ID:614294 +BMGC_DS14342,BMG_DS054880,"Wolfram-Like Syndrome, Autosomal Dominant",UMLS ID:C3280358,,,,,Wolfram-like syndrome,MONDO:0013673,,MeSH ID:C565631,,,,OMIM ID:614296 +BMGC_DS14343,BMG_DS054881,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4,UMLS ID:C3280371,,,,,neurodegeneration with brain iron accumulation 4,MONDO:0013674,,,,,,OMIM ID:614298 +BMGC_DS14344,BMG_DS054882,Multiple mitochondrial dysfunctions syndrome type 2,UMLS ID:C3280378,Multiple mitochondrial dysfunctions syndrome type 2 (disorder) | Multiple mitochondrial dysfunctions syndrome type 2 | MMDS2 - multiple mitochondrial dysfunctions syndrome type 2 | BOLA3 (bolA family member 3) deficiency,SNOMEDCT ID:1208486005,,,multiple mitochondrial dysfunctions syndrome 2,MONDO:0013675,,,,,,OMIM ID:614299 +BMGC_DS14345,BMG_DS054883,EDICT syndrome,UMLS ID:C3280392,"Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) | Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome | EDICT syndrome | EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome | Autosomal dominant keratoconus with early-onset anterior polar cataract | Familial keratoconus with cataract",SNOMEDCT ID:722439009,,,EDICT syndrome,MONDO:0013678,,,,,,OMIM ID:614303 +BMGC_DS14346,BMG_DS054885,SCLEROSTEOSIS 2,UMLS ID:C3280402,,,,,sclerosteosis 2,MONDO:0013679,,,,,,OMIM ID:604270 | OMIM ID:614305 +BMGC_DS14347,BMG_DS054886,COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA,UMLS ID:C3280415,,,,,cognitive impairment with or without cerebellar ataxia,MONDO:0013680,,,,,,OMIM ID:600702 | OMIM ID:614306 +BMGC_DS14348,BMG_DS054887,Alpha-Methylacyl-CoA Racemase Deficiency,UMLS ID:C3280428,,,,,alpha-methylacyl-CoA racemase deficiency,MONDO:0013681,,MeSH ID:C565768,alpha-methylacyl-CoA racemase deficiency,DOID:0060602,,OMIM ID:614307 +BMGC_DS14349,BMG_DS054891,,UMLS ID:C3280442,,,,,"pancreatic cancer, susceptibility to, 4",MONDO:0013685,,,,,,OMIM ID:614320 +BMGC_DS14350,BMG_DS054892,"MYOPATHY, DISTAL, TATEYAMA TYPE",UMLS ID:C3280443,,,,,"distal myopathy, Tateyama type",MONDO:0013686,,,distal myopathy Tateyama type,DOID:0111191,,OMIM ID:601253 | OMIM ID:614321 +BMGC_DS14351,BMG_DS054893,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",UMLS ID:C3280452,,,,,autosomal recessive spinocerebellar ataxia 12,MONDO:0013687,,,autosomal recessive spinocerebellar ataxia 12,DOID:0080060,,OMIM ID:614322 | OMIM ID:605131 +BMGC_DS14352,BMG_DS054894,OVARIAN DYSGENESIS 3,UMLS ID:C3280471,,,,,ovarian dysgenesis 3,MONDO:0013689,,,ovarian dysgenesis 3,DOID:0080495,,OMIM ID:608665 | OMIM ID:614324 +BMGC_DS14353,BMG_DS054895,PITT-HOPKINS-LIKE SYNDROME 2,UMLS ID:C3280479,,,,,Pitt-Hopkins-like syndrome 2,MONDO:0013690,,,Pitt-Hopkins-like syndrome 2,DOID:0111332,,OMIM ID:614325 | OMIM ID:600565 +BMGC_DS14354,BMG_DS054896,FEINGOLD SYNDROME 2,UMLS ID:C3280489,,,,,Feingold syndrome type 2,MONDO:0013691,,,,,,OMIM ID:614326 +BMGC_DS14355,BMG_DS054897,TUMOR PREDISPOSITION SYNDROME 1,UMLS ID:C3280492,,,,,BAP1-related tumor predisposition syndrome,MONDO:0013692,,,,,,OMIM ID:603089 | OMIM ID:614327 +BMGC_DS14356,BMG_DS054898,"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1",UMLS ID:C3280501,,,,,"inflammatory skin and bowel disease, neonatal, 1",MONDO:0013693,,,,,,OMIM ID:603639 | OMIM ID:614328 +BMGC_DS14357,BMG_DS054899,,UMLS ID:C3280523,,,,,"intellectual disability, autosomal recessive 31",MONDO:0013694,,,,,,OMIM ID:614329 +BMGC_DS14358,BMG_DS054900,SCHIZOPHRENIA 17,UMLS ID:C3280524,,,,,schizophrenia 17,MONDO:0800358,,,,,,OMIM ID:614332 +BMGC_DS14359,BMG_DS054901,,UMLS ID:C3280525,,,,,"intellectual disability, autosomal recessive 29",MONDO:0013697,,,,,,OMIM ID:614333 +BMGC_DS14360,BMG_DS054902,"ARTHROGRYPOSIS, DISTAL, TYPE 1B",UMLS ID:C3280526,,,,,"arthrogryposis, distal, type 1B",MONDO:0013698,,,distal arthrogryposis type 1B,DOID:0111598,,OMIM ID:160794 | OMIM ID:614335 +BMGC_DS14361,BMG_DS054903,,UMLS ID:C3280527,,,,,pancreatic triacylglycerol lipase deficiency,MONDO:0013700,,,,,,OMIM ID:614338 +BMGC_DS14362,BMG_DS054904,"COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",UMLS ID:C3280528,,,,,,,,,,,,OMIM ID:614338 +BMGC_DS14363,BMG_DS054905,"LIPASE AND COLIPASE, DEFICIENCY OF",UMLS ID:C3280529,,,,,,,,,,,,OMIM ID:614338 +BMGC_DS14364,BMG_DS054906,"LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",UMLS ID:C3280530,,,,,,,,,,,,OMIM ID:614338 +BMGC_DS14365,BMG_DS054907,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27",UMLS ID:C3280538,,,,,"intellectual disability, autosomal recessive 27",MONDO:0013702,,,autosomal recessive intellectual developmental disorder 27,DOID:0081193,,OMIM ID:614340 | OMIM ID:610350 +BMGC_DS14366,BMG_DS054908,,UMLS ID:C3280539,,,,,"intellectual disability, autosomal recessive 33",MONDO:0013703,,,,,,OMIM ID:614341 +BMGC_DS14367,BMG_DS054909,,UMLS ID:C3280540,,,,,"intellectual disability, autosomal recessive 30",MONDO:0013704,,,,,,OMIM ID:614342 +BMGC_DS14368,BMG_DS054910,,UMLS ID:C3280541,,,,,"intellectual disability, autosomal recessive 19",MONDO:0013705,,,,,,OMIM ID:614343 +BMGC_DS14369,BMG_DS054911,,UMLS ID:C3280542,,,,,"intellectual disability, autosomal recessive 23",MONDO:0013706,,,,,,OMIM ID:614344 +BMGC_DS14370,BMG_DS054912,,UMLS ID:C3280543,,,,,"intellectual disability, autosomal recessive 24",MONDO:0013707,,,,,,OMIM ID:614345 +BMGC_DS14371,BMG_DS054913,,UMLS ID:C3280544,,,,,"intellectual disability, autosomal recessive 25",MONDO:0013708,,,,,,OMIM ID:614346 +BMGC_DS14372,BMG_DS054914,,UMLS ID:C3280545,,,,,"intellectual disability, autosomal recessive 28",MONDO:0013709,,,,,,OMIM ID:614347 +BMGC_DS14373,BMG_DS054915,"PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",UMLS ID:C3280556,,,,,peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,MONDO:0013711,,,,,,OMIM ID:608568 | OMIM ID:614369 +BMGC_DS14374,BMG_DS054916,"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5",UMLS ID:C3280574,,,,,"surfactant metabolism dysfunction, pulmonary, 5",MONDO:0013712,,,,,,OMIM ID:138981 | OMIM ID:614370 +BMGC_DS14375,BMG_DS054917,,UMLS ID:C3280582,,,,,"dengue virus, susceptibility to",MONDO:0013713,,,,,,OMIM ID:614371 +BMGC_DS14376,BMG_DS054920,Mannose-Binding Protein Deficiency,UMLS ID:C3280586,,,,,mannose-binding lectin deficiency,MONDO:0013714,,MeSH ID:C563602,,,,OMIM ID:614372 +BMGC_DS14377,BMG_DS054921,"AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE",UMLS ID:C3280587,,,,,amyotrophic lateral sclerosis type 16,MONDO:0013715,,,amyotrophic lateral sclerosis type 16,DOID:0060207,,OMIM ID:601978 | OMIM ID:614373 +BMGC_DS14378,BMG_DS054923,SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C3280598,,,,,asphyxiating thoracic dystrophy 5,MONDO:0013717,,,,,,OMIM ID:614376 +BMGC_DS14379,BMG_DS054924,NEPHRONOPHTHISIS 13,UMLS ID:C3280612,,,,,nephronophthisis 13,MONDO:0013718,,,nephronophthisis 13,DOID:0111121,,OMIM ID:608151 | OMIM ID:614377 +BMGC_DS14380,BMG_DS054925,CRANIOECTODERMAL DYSPLASIA 4,UMLS ID:C3280616,,,,,cranioectodermal dysplasia 4,MONDO:0013719,,,cranioectodermal dysplasia 4,DOID:0080806,,OMIM ID:614378 | OMIM ID:608151 +BMGC_DS14381,BMG_DS054929,,UMLS ID:C3280641,,,,,complement component 4b deficiency,MONDO:0013720,,,,,,OMIM ID:614379 +BMGC_DS14382,BMG_DS054930,,UMLS ID:C3280642,,,,,complement component 4a deficiency,MONDO:0013721,,,,,,OMIM ID:614380 +BMGC_DS14383,BMG_DS054931,"LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",UMLS ID:C3280644,,,,,hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism,MONDO:0013722,,,,,,OMIM ID:614381 | OMIM ID:213002 | OMIM ID:614381 +BMGC_DS14384,BMG_DS054932,,UMLS ID:C3280645,,,,,"bacteremia, susceptibility to, 1",MONDO:0013723,,,,,,OMIM ID:614382 +BMGC_DS14385,BMG_DS054933,,UMLS ID:C3280646,,,,,"bacteremia, susceptibility",MONDO:0000108,,,,,, +BMGC_DS14386,BMG_DS054934,,UMLS ID:C3280647,,,,,"bacteremia, susceptibility to, 2",MONDO:0013724,,,,,,OMIM ID:614383 +BMGC_DS14387,BMG_DS054935,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1,UMLS ID:C3280660,,,,,"encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",MONDO:0013726,,,encephalopathy due to defective mitochondrial and peroxisomal fission 1,DOID:0070347,,OMIM ID:603850 | OMIM ID:614388 +BMGC_DS14388,BMG_DS054936,,UMLS ID:C3280670,,,,,"pregnancy loss, recurrent, susceptibility to, 1",MONDO:0013727,,,,,,OMIM ID:614389 +BMGC_DS14389,BMG_DS054937,,UMLS ID:C3280672,,,,,"pregnancy loss, recurrent, susceptibility to, 2",MONDO:0013728,,,,,,OMIM ID:614390 +BMGC_DS14390,BMG_DS054938,,UMLS ID:C3280674,,,,,"pregnancy loss, recurrent, susceptibility to, 3",MONDO:0013729,,,,,,OMIM ID:614391 +BMGC_DS14391,BMG_DS054939,,UMLS ID:C3280677,,,,,"graft-versus-host disease, susceptibility to",MONDO:0100048,,,,,,OMIM ID:614395 +BMGC_DS14392,BMG_DS054940,"Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome",UMLS ID:C3280679,"Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) | EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome",SNOMEDCT ID:1236844002,,,MEGF10-related myopathy,MONDO:0013731,,,,,,OMIM ID:614399 +BMGC_DS14393,BMG_DS054941,,UMLS ID:C3280689,,,,,"glucocorticoid therapy, response to",MONDO:0013732,,,,,,OMIM ID:614400 +BMGC_DS14394,BMG_DS054942,"Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome",UMLS ID:C3280692,"Zaki Gleeson syndrome | Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome | Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome | Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder)",SNOMEDCT ID:764732004,,,microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,MONDO:0013735,,,,,,OMIM ID:614407 +BMGC_DS14395,BMG_DS054943,CHILBLAIN LUPUS 2,UMLS ID:C3280721,,,,,chilblain lupus 2,MONDO:0013739,,,,,,OMIM ID:614415 | OMIM ID:606754 +BMGC_DS14396,BMG_DS054945,RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES,UMLS ID:C3280729,,,,,lethal occipital encephalocele-skeletal dysplasia syndrome,MONDO:0013740,,,,,,OMIM ID:605207 | OMIM ID:614416 +BMGC_DS14397,BMG_DS054946,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 5",UMLS ID:C3280730,,,,,familial temporal lobe epilepsy 5,MONDO:0013741,,,familial temporal lobe epilepsy 5,DOID:0060752,,OMIM ID:614417 | OMIM ID:609562 +BMGC_DS14398,BMG_DS054947,"FEBRILE SEIZURES, FAMILIAL, 11",UMLS ID:C3280734,,,,,"febrile seizures, familial, 11",MONDO:0024566,,,familial febrile seizures 11,DOID:0111308,,OMIM ID:614418 | OMIM ID:609562 +BMGC_DS14399,BMG_DS054948,SYSTEMIC LUPUS ERYTHEMATOSUS 16,UMLS ID:C3280742,,,,,autosomal systemic lupus erythematosus type 16,MONDO:0013743,,,,,,OMIM ID:614420 | OMIM ID:602244 +BMGC_DS14400,BMG_DS054950,CATARACT 37,UMLS ID:C3280758,,,,,cataract 37,MONDO:0013744,,,,,,OMIM ID:614422 +BMGC_DS14401,BMG_DS054951,JOUBERT SYNDROME 14,UMLS ID:C3280766,,,,,Joubert syndrome 14,MONDO:0013745,,,Joubert syndrome 14,DOID:0110983,,OMIM ID:614424 | OMIM ID:614423 +BMGC_DS14402,BMG_DS054952,VENTRICULAR SEPTAL DEFECT 1,UMLS ID:C3280777,,,,,ventricular septal defect 1,MONDO:0013746,,,,,,OMIM ID:614429 | OMIM ID:600576 +BMGC_DS14403,BMG_DS054954,ATRIOVENTRICULAR SEPTAL DEFECT 4,UMLS ID:C3280781,,,,,atrioventricular septal defect 4,MONDO:0013747,,,,,,OMIM ID:600576 | OMIM ID:614430 +BMGC_DS14404,BMG_DS054956,,UMLS ID:C3280783,,,,,ventricular septal defect 2,MONDO:0013748,,,,,,OMIM ID:614431 +BMGC_DS14405,BMG_DS054957,VENTRICULAR SEPTAL DEFECT 3,UMLS ID:C3280785,,,,,ventricular septal defect 3,MONDO:0013749,,,,,,OMIM ID:600584 | OMIM ID:614432 +BMGC_DS14406,BMG_DS054959,,UMLS ID:C3280790,,,,,atrial septal defect 8,MONDO:0013750,,,,,,OMIM ID:614433 +BMGC_DS14407,BMG_DS054961,"CUTIS LAXA, AUTOSOMAL DOMINANT 2",UMLS ID:C3280794,,,,,"cutis laxa, autosomal dominant 2",MONDO:0013751,,,,,,OMIM ID:604580 | OMIM ID:614434 +BMGC_DS14408,BMG_DS054962,HYPOPLASTIC LEFT HEART SYNDROME 2,UMLS ID:C3280795,,,,,hypoplastic left heart syndrome 2,MONDO:0013752,,,,,,OMIM ID:614435 | OMIM ID:600584 +BMGC_DS14409,BMG_DS054963,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",UMLS ID:C3280797,,,,,Charcot-Marie-Tooth disease axonal type 2P,MONDO:0013753,,,,,,OMIM ID:614436 | OMIM ID:610933 | OMIM ID:614436 | OMIM ID:608591 +BMGC_DS14410,BMG_DS054964,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB",UMLS ID:C3280798,,,,,"cutis laxa, autosomal recessive, type 1B",MONDO:0013754,,,,,,OMIM ID:604633 | OMIM ID:614437 +BMGC_DS14411,BMG_DS054965,Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome,UMLS ID:C3280799,Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome | Disorder due to pyrroline-5-carboxylate reductase 1 deficiency | PYCR1-related de Barsy syndrome | Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome (disorder) | Autosomal recessive cutis laxa type IIIb,SNOMEDCT ID:1295488006,,,PYCR1-related de Barsy syndrome,MONDO:0013755,,,,,,OMIM ID:614438 +BMGC_DS14412,BMG_DS054966,"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2",UMLS ID:C3280800,,,,,"hypertrophic osteoarthropathy, primary, autosomal recessive, 2",MONDO:0013756,,,,,,OMIM ID:614441 +BMGC_DS14413,BMG_DS054967,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",UMLS ID:C3280817,,,,,congenital nongoitrous hypothyroidism 6,MONDO:0013757,,,,,,OMIM ID:190120 | OMIM ID:614450 +BMGC_DS14414,BMG_DS054968,"Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome",UMLS ID:C3280856,"ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) | Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome | ELOVL4-related neuro ichthyosis",SNOMEDCT ID:1208936008,,,congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,MONDO:0013760,,,,,,OMIM ID:614457 +BMGC_DS14415,BMG_DS054969,THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE),UMLS ID:C3280866,,,,,childhood encephalopathy due to thiamine pyrophosphokinase deficiency,MONDO:0013761,,,,,,OMIM ID:606370 | OMIM ID:614458 +BMGC_DS14416,BMG_DS054970,"HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES",UMLS ID:C3280887,,,,,lipoic acid synthetase deficiency,MONDO:0013762,,,,,,OMIM ID:607031 | OMIM ID:614462 +BMGC_DS14417,BMG_DS054971,JOUBERT SYNDROME 15,UMLS ID:C3280897,,,,,Joubert syndrome 15,MONDO:0013763,,,Joubert syndrome 15,DOID:0110984,,OMIM ID:610523 | OMIM ID:614464 +BMGC_DS14418,BMG_DS054972,"JOUBERT SYNDROME 9/15, DIGENIC",UMLS ID:C3280898,,,,,,,,,Joubert syndrome 15,DOID:0110984,,OMIM ID:612013 | OMIM ID:612285 | OMIM ID:614464 | OMIM ID:610523 +BMGC_DS14419,BMG_DS054973,"JOUBERT SYNDROME 12/15, DIGENIC",UMLS ID:C3280899,,,,,,,,,Joubert syndrome 15,DOID:0110984,,OMIM ID:200990 | OMIM ID:610523 | OMIM ID:611254 | OMIM ID:614464 +BMGC_DS14420,BMG_DS054974,JOUBERT SYNDROME 16,UMLS ID:C3280906,,,,,Joubert syndrome 16,MONDO:0013764,,,Joubert syndrome 16,DOID:0110985,,OMIM ID:614459 | OMIM ID:614465 +BMGC_DS14421,BMG_DS054975,,UMLS ID:C3280913,,,,,"coronary heart disease, susceptibility to, 6",MONDO:0013765,,,,,,OMIM ID:614466 +BMGC_DS14422,BMG_DS054976,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3,UMLS ID:C3280914,,,,,familial cold autoinflammatory syndrome 3,MONDO:0013766,,,,,,OMIM ID:600220 | OMIM ID:614468 +BMGC_DS14423,BMG_DS054977,ATRIOVENTRICULAR SEPTAL DEFECT 5,UMLS ID:C3280939,,,,,atrioventricular septal defect 5,MONDO:0013769,,,,,,OMIM ID:601656 | OMIM ID:614474 +BMGC_DS14424,BMG_DS054978,ATRIAL SEPTAL DEFECT 9,UMLS ID:C3280943,,,,,atrial septal defect 9,MONDO:0013770,,,,,,OMIM ID:614475 | OMIM ID:601656 +BMGC_DS14425,BMG_DS054979,"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE",UMLS ID:C3280953,,,,,transient infantile hypertriglyceridemia and hepatosteatosis,MONDO:0013771,,,,,,OMIM ID:138420 | OMIM ID:614480 +BMGC_DS14426,BMG_DS054980,BRAIN SMALL VESSEL DISEASE 2,UMLS ID:C3280970,,,,,porencephaly 2,MONDO:0013773,,,brain small vessel disease 2,DOID:0112314,,OMIM ID:120090 | OMIM ID:614483 +BMGC_DS14427,BMG_DS054981,,UMLS ID:C3280974,,,,,trigonocephaly 2,MONDO:0013774,,,,,,OMIM ID:614485 +BMGC_DS14428,BMG_DS054982,Thrombophilia due to Thrombomodulin Defect,UMLS ID:C3280976,,,,,thrombomodulin-related bleeding disorder,MONDO:0013775,,MeSH ID:C566057,thrombophilia due to thrombomodulin defect,DOID:0111908,,OMIM ID:614486 +BMGC_DS14429,BMG_DS054983,"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",UMLS ID:C3280977,,,,,spastic ataxia 5,MONDO:0013776,,,spastic ataxia 5,DOID:0050944,,OMIM ID:604581 | OMIM ID:614487 +BMGC_DS14430,BMG_DS054985,WISKOTT-ALDRICH SYNDROME 2,UMLS ID:C3281001,,,,,Wiskott-Aldrich syndrome 2,MONDO:0013779,,,,,,OMIM ID:602357 | OMIM ID:614493 | OMIM ID:277970 | OMIM ID:614493 +BMGC_DS14431,BMG_DS054986,RETINITIS PIGMENTOSA 63,UMLS ID:C3281002,,,,,retinitis pigmentosa 63,MONDO:0013780,,,,,,OMIM ID:614494 +BMGC_DS14432,BMG_DS054987,MICROPHTHALMIA/COLOBOMA 7,UMLS ID:C3281027,,,,,"microphthalmia, isolated, with coloboma 7",MONDO:0013783,,,,,,OMIM ID:605452 | OMIM ID:614497 +BMGC_DS14433,BMG_DS054988,"Lethal neonatal spasticity, epileptic encephalopathy syndrome",UMLS ID:C3281029,"Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) | Lethal neonatal spasticity, epileptic encephalopathy syndrome | Lethal neonatal rigidity, multifocal seizure syndrome",SNOMEDCT ID:1197587003,,,neonatal-onset encephalopathy with rigidity and seizures,MONDO:0013784,,,,,,OMIM ID:614498 +BMGC_DS14434,BMG_DS054989,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY",UMLS ID:C3281044,,,,,"intellectual disability, autosomal recessive 34",MONDO:0013785,,,autosomal recessive intellectual developmental disorder 34,DOID:0081200,,OMIM ID:603454 | OMIM ID:614499 +BMGC_DS14435,BMG_DS054990,CONE-ROD DYSTROPHY 16,UMLS ID:C3281045,,,,,cone-rod dystrophy 16,MONDO:0013786,,,cone-rod dystrophy 16,DOID:0111022,,OMIM ID:614477 | OMIM ID:614500 +BMGC_DS14436,BMG_DS054991,RETINITIS PIGMENTOSA 64,UMLS ID:C3281046,,,,,retinitis pigmentosa 64,MONDO:0800359,,,cone-rod dystrophy 16,DOID:0111022,,OMIM ID:614477 | OMIM ID:614500 +BMGC_DS14437,BMG_DS054992,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES",UMLS ID:C3281055,,,,,"psychomotor retardation, epilepsy, and craniofacial dysmorphism",MONDO:0013787,,,,,,OMIM ID:608241 | OMIM ID:614501 +BMGC_DS14438,BMG_DS054993,"USHER SYNDROME, TYPE IIIB",UMLS ID:C3281066,,,,,Usher syndrome type 3B,MONDO:0013788,,,,,,OMIM ID:142810 | OMIM ID:614504 +BMGC_DS14439,BMG_DS054994,Congenital disorder of glycosylation type 1r,UMLS ID:C3281084,Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation | Congenital disorder of glycosylation type Ir | DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation | Congenital disorder of glycosylation type 1r (disorder) | Congenital disorder of glycosylation type 1r | Carbohydrate deficient glycoprotein syndrome type Ir,SNOMEDCT ID:733083006,,,DDOST-congenital disorder of glycosylation,MONDO:0013789,,,,,,OMIM ID:614507 +BMGC_DS14440,BMG_DS054995,MIRROR MOVEMENTS 2,UMLS ID:C3281089,,,,,mirror movements 2,MONDO:0013790,,,,,,OMIM ID:179617 | OMIM ID:614508 +BMGC_DS14441,BMG_DS054996,"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE",UMLS ID:C3281092,,,,,"thrombophilia due to protein S deficiency, autosomal recessive",MONDO:0013791,,,autosomal recessive thrombophilia due to protein S deficiency,DOID:0111905,,OMIM ID:176880 | OMIM ID:614514 +BMGC_DS14442,BMG_DS054997,,UMLS ID:C3281105,,,,,"hemorrhage, intracerebral, susceptibility to",MONDO:0100533,,,,,,OMIM ID:614519 +BMGC_DS14443,BMG_DS054998,"ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY",UMLS ID:C3281106,,,,,"encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency",MONDO:0013793,,,,,,OMIM ID:614520 +BMGC_DS14444,BMG_DS055000,THROMBOCYTHEMIA 3,UMLS ID:C3281125,,,,,thrombocythemia 3,MONDO:0013794,,,,,,OMIM ID:614521 | OMIM ID:147796 +BMGC_DS14445,BMG_DS055001,FIBROCHONDROGENESIS 2,UMLS ID:C3281128,,,,,fibrochondrogenesis 2,MONDO:0013795,,,fibrochondrogenesis 2,DOID:0080673,,OMIM ID:614524 | OMIM ID:120290 +BMGC_DS14446,BMG_DS055002,17q12 microduplication syndrome,UMLS ID:C3281137,Chromosome 17q12 duplication syndrome | 17q12 duplication syndrome | 17q12 microduplication syndrome | 17q12 microduplication syndrome (disorder) | Trisomy 17q12,SNOMEDCT ID:764435003,,,chromosome 17q12 duplication syndrome,MONDO:0013796,,,,,,OMIM ID:614526 +BMGC_DS14447,BMG_DS055003,CHROMOSOME 17q12 DELETION SYNDROME,UMLS ID:C3281138,,,,,chromosome 17q12 deletion syndrome,MONDO:0013797,,,,,,OMIM ID:614527 +BMGC_DS14448,BMG_DS055004,CHROMOSOME 16q22 DELETION SYNDROME,UMLS ID:C3281152,,,,,chromosome 16q22 deletion syndrome,MONDO:0013798,,,chromosome 16q22 deletion syndrome,DOID:0060401,,OMIM ID:614541 +BMGC_DS14449,BMG_DS055005,,UMLS ID:C3281153,,,,,"efavirenz central nervous system toxicity, susceptibility to",MONDO:0800431,,,,,, +BMGC_DS14450,BMG_DS055006,"EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2",UMLS ID:C3281160,,,,,"Ehlers-Danlos syndrome, kyphoscoliotic type, 2",MONDO:0013800,,,Ehlers-Danlos syndrome kyphoscoliotic type 2,DOID:0080735,,OMIM ID:614505 | OMIM ID:614557 +BMGC_DS14451,BMG_DS055008,SCN8A-related epilepsy with encephalopathy,UMLS ID:C3281191,SCN8A encephalopathy | SCN8A (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy | Early infantile epileptic encephalopathy 13 | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) | SCN8A-related epilepsy with encephalopathy | Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy,SNOMEDCT ID:765170001,,,"developmental and epileptic encephalopathy, 13",MONDO:0013801,,,,,,OMIM ID:614558 +BMGC_DS14452,BMG_DS055009,Infantile cerebellar and retinal degeneration,UMLS ID:C3281192,Infantile cerebellar and retinal degeneration (disorder) | Infantile cerebellar and retinal degeneration,SNOMEDCT ID:782822006,,,infantile cerebellar-retinal degeneration,MONDO:0013802,,,,,,OMIM ID:614559 +BMGC_DS14453,BMG_DS055010,Leukoencephalopathy Brain Calcifications and Cysts,UMLS ID:C3281200,,,,,leukoencephalopathy with calcifications and cysts,MONDO:0013803,,MeSH ID:C000598644,,,,OMIM ID:614561 +BMGC_DS14454,BMG_DS055011,COFFIN-SIRIS SYNDROME 1,UMLS ID:C3281201,,,,,Coffin-Siris syndrome 1,MONDO:0007617,,,Coffin-Siris syndrome 1,DOID:0070042,,OMIM ID:135900 | OMIM ID:135900 | OMIM ID:609943 | OMIM ID:614562 | OMIM ID:614556 +BMGC_DS14455,BMG_DS055012,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13",UMLS ID:C3281202,,,,,"intellectual disability, autosomal dominant 13",MONDO:0013805,,,autosomal dominant intellectual developmental disorder 13,DOID:0070043,,OMIM ID:600112 | OMIM ID:614563 +BMGC_DS14456,BMG_DS055013,,UMLS ID:C3281203,,,,,familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome,MONDO:0013806,,,,,,OMIM ID:614564 +BMGC_DS14457,BMG_DS055014,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E",UMLS ID:C3281215,,,,,congenital stationary night blindness 1E,MONDO:0013807,,,congenital stationary night blindness 1E,DOID:0110869,,OMIM ID:614515 | OMIM ID:614565 +BMGC_DS14458,BMG_DS055016,"CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME",UMLS ID:C3281223,,,,,cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,MONDO:0044720,,,,,,OMIM ID:102579 | OMIM ID:614575 +BMGC_DS14459,BMG_DS055017,BARAITSER-WINTER SYNDROME 2,UMLS ID:C3281235,,,,,Baraitser-winter syndrome 2,MONDO:0013812,,,Baraitser-Winter syndrome 2,DOID:0081113,,OMIM ID:102560 | OMIM ID:614583 +BMGC_DS14460,BMG_DS055018,DYSTONIA 21,UMLS ID:C3281236,,,,,dystonia 21,MONDO:0013813,,,,,,OMIM ID:614588 +BMGC_DS14461,BMG_DS055020,BENT BONE DYSPLASIA SYNDROME 1,UMLS ID:C3281247,,,,,bent bone dysplasia syndrome 1,MONDO:0013815,,,bent bone dysplasia syndrome 1,DOID:0060992,,OMIM ID:176943 | OMIM ID:614592 +BMGC_DS14462,BMG_DS055027,PREECLAMPSIA/ECLAMPSIA 5,UMLS ID:C3281288,,,,,preeclampsia/eclampsia 5,MONDO:0013817,,,,,,OMIM ID:605236 | OMIM ID:614595 +BMGC_DS14463,BMG_DS055028,TRICHOHEPATOENTERIC SYNDROME 2,UMLS ID:C3281289,,,,,trichohepatoenteric syndrome 2,MONDO:0013818,,,trichohepatoenteric syndrome 2,DOID:0111416,,OMIM ID:600478 | OMIM ID:614602 +BMGC_DS14464,BMG_DS055029,"DEAFNESS, AUTOSOMAL DOMINANT 4B",UMLS ID:C3281297,,,,,autosomal dominant nonsyndromic hearing loss 4B,MONDO:0013823,,,,,,OMIM ID:614614 | OMIM ID:614591 +BMGC_DS14465,BMG_DS055032,,UMLS ID:C3463824,,,,,myelodysplastic syndrome,MONDO:0018881,,,,,,OMIM ID:614286 +BMGC_DS14466,BMG_DS055033,"HYDATIDIFORM MOLE, RECURRENT, 1",UMLS ID:C3463897,,,,,"hydatidiform mole, recurrent, 1",MONDO:0009273,,,,,,OMIM ID:609661 | OMIM ID:231090 +BMGC_DS14467,BMG_DS055035,Complement Factor I Deficiency,UMLS ID:C3463916,,,,,complement factor I deficiency,MONDO:0012594,,MeSH ID:C572568,complement factor I deficiency,DOID:0050419,,OMIM ID:610984 +BMGC_DS14468,BMG_DS055036,,UMLS ID:C3463917,,,,,corticosterone methyloxidase type 2 deficiency,MONDO:0012524,,,,,,OMIM ID:610600 +BMGC_DS14469,BMG_DS055037,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1",UMLS ID:C3463992,,,,,"developmental and epileptic encephalopathy, 1",MONDO:0010632,,,developmental and epileptic encephalopathy 1,DOID:0080468,,OMIM ID:308350 +BMGC_DS14470,BMG_DS055038,"FANCONI ANEMIA, COMPLEMENTATION GROUP C",UMLS ID:C3468041,,,,,Fanconi anemia complementation group C,MONDO:0009213,,,Fanconi anemia complementation group C,DOID:0111087,,OMIM ID:227645 | OMIM ID:613899 +BMGC_DS14471,BMG_DS055040,Juvenile amyotrophic lateral sclerosis,UMLS ID:C3468114,Juvenile amyotrophic lateral sclerosis (disorder) | Juvenile amyotrophic lateral sclerosis | JALS - juvenile amyotrophic lateral sclerosis,SNOMEDCT ID:718555006,,,juvenile amyotrophic lateral sclerosis,MONDO:0017593,,,,,, +BMGC_DS14472,BMG_DS055044,,UMLS ID:C3468561,,,,,familial atrial fibrillation,MONDO:0018054,,,,,, +BMGC_DS14473,BMG_DS055059,"HEMOCHROMATOSIS, TYPE 1",UMLS ID:C3469186,,,,,hemochromatosis type 1,MONDO:0021001,,,,,,OMIM ID:235200 | OMIM ID:613609 +BMGC_DS14474,BMG_DS055061,,UMLS ID:C3469521,,,,,Fanconi anemia complementation group A,MONDO:0009215,,,,,,OMIM ID:227650 +BMGC_DS14475,BMG_DS055062,"FANCONI ANEMIA, COMPLEMENTATION GROUP F",UMLS ID:C3469526,,,,,Fanconi anemia complementation group F,MONDO:0011325,,,Fanconi anemia complementation group F,DOID:0111088,,OMIM ID:603467 | OMIM ID:613897 +BMGC_DS14476,BMG_DS055063,,UMLS ID:C3469527,,,,,Fanconi anemia complementation group G,MONDO:0013565,,,,,,OMIM ID:614082 +BMGC_DS14477,BMG_DS055064,"FANCONI ANEMIA, COMPLEMENTATION GROUP L",UMLS ID:C3469528,,,,,Fanconi anemia complementation group L,MONDO:0013566,,,Fanconi anemia complementation group L,DOID:0111082,,OMIM ID:608111 | OMIM ID:614083 +BMGC_DS14478,BMG_DS055065,"FANCONI ANEMIA, COMPLEMENTATION GROUP P",UMLS ID:C3469542,,,,,Fanconi anemia complementation group P,MONDO:0013499,,,Fanconi anemia complementation group P,DOID:0111092,,OMIM ID:613278 | OMIM ID:613951 +BMGC_DS14479,BMG_DS055066,"PSEUDOHYPOALDOSTERONISM, TYPE IID",UMLS ID:C3469605,,,,,pseudohypoaldosteronism type 2D,MONDO:0013781,,,,,,OMIM ID:614495 +BMGC_DS14480,BMG_DS055067,"PSEUDOHYPOALDOSTERONISM, TYPE IIE",UMLS ID:C3469606,,,,,pseudohypoaldosteronism type 2E,MONDO:0013782,,,,,,OMIM ID:603136 | OMIM ID:614496 +BMGC_DS14481,BMG_DS055071,Severe dehydration,UMLS ID:C3472181,Severe dehydration (disorder) | Severe dehydration,SNOMEDCT ID:450316000,,,,,,,,,,OMIM ID:MTHU047755 +BMGC_DS14482,BMG_DS055080,,UMLS ID:C3472621,,,,,myeloid neoplasm associated with PDGFRB rearrangement,MONDO:0015690,,,,,, +BMGC_DS14483,BMG_DS055095,Spinocerebellar ataxia 36,UMLS ID:C3472711,Spinocerebellar ataxia type 36 (disorder) | Spinocerebellar ataxia type 36 | Costa de Morte ataxia | Asidan ataxia | Spinocerebellar ataxia 36,SNOMEDCT ID:711158005,,,spinocerebellar ataxia type 36,MONDO:0013594,,,,,,OMIM ID:614153 +BMGC_DS14484,BMG_DS055096,HERMANSKY-PUDLAK SYNDROME 4,UMLS ID:C3484357,,,,,Hermansky-Pudlak syndrome 4,MONDO:0013556,,,Hermansky-Pudlak syndrome 4,DOID:0060542,,OMIM ID:606682 | OMIM ID:614073 +BMGC_DS14485,BMG_DS055097,,UMLS ID:C3489393,,,,,hiatus hernia,MONDO:0007721,,,hiatus hernia,DOID:12642,,OMIM ID:142400 +BMGC_DS14486,BMG_DS055098,"Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",UMLS ID:C3489395,,,,,,,Hyperlipoproteinemia Type V,MeSH ID:D006954,,,, +BMGC_DS14487,BMG_DS055099,"Hypogonadism, Isolated Hypogonadotropic",UMLS ID:C3489396,,,,,,,Hypogonadism,MeSH ID:D007006,,,, +BMGC_DS14488,BMG_DS055102,Hyperkalemic Periodic Paralysis Type 2,UMLS ID:C3489447,,,,,,,"Paralysis, Hyperkalemic Periodic",MeSH ID:D020513,,,, +BMGC_DS14489,BMG_DS055103,,UMLS ID:C3489529,,,,,"tooth agenesis, selective, 1",MONDO:0007129,,,,,,OMIM ID:106600 +BMGC_DS14490,BMG_DS055104,Cone-Rod Dystrophy 2,UMLS ID:C3489532,,,,,cone-rod dystrophy 2,MONDO:0007362,Cone-Rod Dystrophies,MeSH ID:D000071700,,,,OMIM ID:120970 +BMGC_DS14491,BMG_DS055106,"Stuttering, Familial Persistent 1",UMLS ID:C3489627,,,,,"stuttering, familial persistent, 1",MONDO:0008483,Stuttering,MeSH ID:D013342,stuttering,DOID:0060243,,OMIM ID:184450 +BMGC_DS14492,BMG_DS055107,"Thrombocytosis, Autosomal Dominant",UMLS ID:C3489628,,,,,,,"Thrombocythemia, Essential",MeSH ID:D013920,,,, +BMGC_DS14493,BMG_DS055108,Vision Disability,UMLS ID:C3489704,,,,,,,Vision Disorders,MeSH ID:D014786,,,, +BMGC_DS14494,BMG_DS055109,Aicardi-Goutieres Syndrome 2,UMLS ID:C3489724,,,,,Aicardi-Goutieres syndrome 2,MONDO:0012429,,MeSH ID:C535607,,,,OMIM ID:610181 +BMGC_DS14495,BMG_DS055110,Pseudo-TORCH syndrome,UMLS ID:C3489725,,,,,pseudo-TORCH syndrome,MONDO:0009626,,MeSH ID:C535607,,,, +BMGC_DS14496,BMG_DS055111,,UMLS ID:C3489726,,,,,geleophysic dysplasia,MONDO:0000127,,,geleophysic dysplasia,DOID:0111724,, +BMGC_DS14497,BMG_DS055113,Familial intrahepatic cholestasis of pregnancy,UMLS ID:C3489728,,,,,,,,MeSH ID:C535932,intrahepatic cholestasis of pregnancy,DOID:0070227,, +BMGC_DS14498,BMG_DS055114,Familial mesangial sclerosis,UMLS ID:C3489732,Familial mesangial sclerosis | Familial mesangial sclerosis (disorder),SNOMEDCT ID:236383002,,,,,,MeSH ID:C537346,,,, +BMGC_DS14499,BMG_DS055115,Oculomotor apraxia,UMLS ID:C3489733,Oculomotor apraxia | Oculomotor apraxia (disorder) | Oculomotor dyspraxia,SNOMEDCT ID:193662007,,,,,,,,,,OMIM ID:MTHU000629 +BMGC_DS14500,BMG_DS055116,"Anti-plasmin deficiency, congenital",UMLS ID:C3489734,,,,,,,,MeSH ID:C537777,,,, +BMGC_DS14501,BMG_DS055118,"Pituitary Hormone Deficiency, Combined, 3",UMLS ID:C3489787,,,,,non-acquired combined pituitary hormone deficiency with spine abnormalities,MONDO:0009091,,MeSH ID:C536710,,,,OMIM ID:221750 +BMGC_DS14502,BMG_DS055120,,UMLS ID:C3489789,,,,,progressive familial intrahepatic cholestasis type 2,MONDO:0011156,,,progressive familial intrahepatic cholestasis 2,DOID:0070222,,OMIM ID:601847 +BMGC_DS14503,BMG_DS055123,,UMLS ID:C3489793,,,,,"46,XY sex reversal 3",MONDO:0013066,,,,,,OMIM ID:612965 +BMGC_DS14504,BMG_DS055125,"Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",UMLS ID:C3489795,,,,,,,,MeSH ID:C567925,,,, +BMGC_DS14505,BMG_DS055126,"Thyroid Hormone Resistance, Generalized, Autosomal Recessive",UMLS ID:C3489796,,,,,"thyroid hormone resistance, generalized, autosomal recessive",MONDO:0010131,,MeSH ID:C567936,,,,OMIM ID:274300 +BMGC_DS14506,BMG_DS055129,Lentiginosis Profusa,UMLS ID:C3492944,,,,,familial generalized lentiginosis,MONDO:0007891,,MeSH ID:C573023,,,,OMIM ID:151001 +BMGC_DS14507,BMG_DS055130,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",UMLS ID:C3493776,,,,,hypothyroidism due to TSH receptor mutations,MONDO:0010142,,,,,,OMIM ID:275200 | OMIM ID:603372 +BMGC_DS14508,BMG_DS055131,Endemic Elephantiasis,UMLS ID:C3494151,,,,,,,Elephantiasis,MeSH ID:D004604,podoconiosis,DOID:0050138,, +BMGC_DS14509,BMG_DS055132,Endemic Non-Filarial Elephantiasis,UMLS ID:C3494152,,,,,,,Elephantiasis,MeSH ID:D004604,podoconiosis,DOID:0050138,, +BMGC_DS14510,BMG_DS055133,Bigfoot Disease,UMLS ID:C3494153,,,,,,,Elephantiasis,MeSH ID:D004604,podoconiosis,DOID:0050138,, +BMGC_DS14511,BMG_DS055134,"Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",UMLS ID:C3494162,,,,,,,Ovarian Hyperstimulation Syndrome,MeSH ID:D016471,,,, +BMGC_DS14512,BMG_DS055135,,UMLS ID:C3494175,,,,,fused mandibular incisors,MONDO:0007820,,,,,,OMIM ID:147251 +BMGC_DS14513,BMG_DS055136,,UMLS ID:C3494181,,,,,paragangliomas 1,MONDO:0008192,,,,,,OMIM ID:168000 +BMGC_DS14514,BMG_DS055137,Autosomal Hemophilia A,UMLS ID:C3494186,,,,,,,Hemophilia A,MeSH ID:D006467,,,, +BMGC_DS14515,BMG_DS055138,Factor VIII Deficiency,UMLS ID:C3494187,,,,,,,Hemophilia A,MeSH ID:D006467,,,, +BMGC_DS14516,BMG_DS055145,"Autoimmune polyendocrinopathy syndrome, type 1",UMLS ID:C3494489,,,,,,,,MeSH ID:C538275,,,, +BMGC_DS14517,BMG_DS055146,"Pseudohypoparathyroidism, Type Ia",UMLS ID:C3494506,,,,,pseudohypoparathyroidism type 1A,MONDO:0007078,Pseudohypoparathyroidism,MeSH ID:D011547,,,,OMIM ID:103580 +BMGC_DS14518,BMG_DS055147,"Hypergonadotropic Ovarian Failure, X-Linked",UMLS ID:C3494522,,,,,,,Primary Ovarian Insufficiency,MeSH ID:D016649,,,, +BMGC_DS14519,BMG_DS055228,,UMLS ID:C3494934,,,,,benign paroxysmal torticollis of infancy,MONDO:0019113,,,,,, +BMGC_DS14520,BMG_DS055239,Malignant migrating partial seizures of infancy (disorder),UMLS ID:C3494976,MMPSI - malignant migrating partial seizures of infancy | Malignant migrating partial seizures of infancy (disorder) | Malignant migrating partial epilepsy of infancy | Malignant migrating partial seizures of infancy,SNOMEDCT ID:784345005,,,malignant migrating partial seizures of infancy,MONDO:0017385,,,,,, +BMGC_DS14521,BMG_DS055261,,UMLS ID:C3495361,,,,,familial ossifying fibroma,MONDO:0007660,,,,,,OMIM ID:137575 +BMGC_DS14522,BMG_DS055264,,UMLS ID:C3495417,,,,,craniofacial microsomia 1,MONDO:0958175,,,,,,OMIM ID:164210 +BMGC_DS14523,BMG_DS055265,Chromosome 18q syndrome,UMLS ID:C3495421,,,,,,,,MeSH ID:C536580,chromosome 18q deletion syndrome,DOID:0060407,, +BMGC_DS14524,BMG_DS055267,Fanconi-Bickel Syndrome,UMLS ID:C3495427,,,,,glycogen storage disease due to GLUT2 deficiency,MONDO:0009216,Fanconi Syndrome,MeSH ID:D005198,Fanconi-Bickel syndrome,DOID:0070562,,OMIM ID:227810 +BMGC_DS14525,BMG_DS055269,"Macular Degeneration, Age-Related, 2",UMLS ID:C3495438,,,,,age related macular degeneration 2,MONDO:0007932,,MeSH ID:C562479,,,,OMIM ID:153800 +BMGC_DS14526,BMG_DS055272,Amish Brittle Hair Brain Syndrome,UMLS ID:C3495483,,,,,,,Trichothiodystrophy Syndromes,MeSH ID:D054463,photosensitive trichothiodystrophy | nonphotosensitive trichothiodystrophy 5,DOID:0111868;DOID:2960,, +BMGC_DS14527,BMG_DS055273,Axenfeld-Rieger syndrome,UMLS ID:C3495488,Axenfeld-Rieger syndrome (disorder) | Axenfeld-Rieger syndrome | Axenfeld syndrome,SNOMEDCT ID:417604002,,,Axenfeld-Rieger syndrome,MONDO:0019187,,MeSH ID:C535679,,,ICD10 ID:Q13.81, +BMGC_DS14528,BMG_DS055275,Acrorenal Syndrome,UMLS ID:C3495490,,,,,acrorenal syndrome,MONDO:0007059,,MeSH ID:C563159,acrorenal syndrome,DOID:0060347,,OMIM ID:102520 +BMGC_DS14529,BMG_DS055276,"Cardiomyopathy, Familial Hypertrophic, 1",UMLS ID:C3495498,,,,,hypertrophic cardiomyopathy 1,MONDO:0008647,,MeSH ID:C566005,,,,OMIM ID:192600 +BMGC_DS14530,BMG_DS055279,,UMLS ID:C3495537,,,,,"heterotaxy, visceral, 5, autosomal",MONDO:0700112,,,,,,OMIM ID:270100 +BMGC_DS14531,BMG_DS055282,Dihydropyrimidinuria,UMLS ID:C3495551,,,,,,,Dihydropyrimidine Dehydrogenase Deficiency,MeSH ID:D054067,dihydropyrimidine dehydrogenase deficiency,DOID:14218,, +BMGC_DS14532,BMG_DS055284,Homocarnosinase deficiency,UMLS ID:C3495554,Homocarnosinase deficiency | Homocarnosinosis | Homocarnosinase deficiency (disorder),SNOMEDCT ID:61764000,,,,,,MeSH ID:C535328,homocarnosinosis,DOID:0060177,, +BMGC_DS14533,BMG_DS055285,Carnosinemia,UMLS ID:C3495555,Aminoacyl-histidine dipeptidase deficiency | Carnosinuria | Carnosinase deficiency | Carnosinaemia | Carnosinemia | Aminoacyl-histidine dipeptidase deficiency (disorder) | Aminoacyl-histidine dipeptidase deficiency | Aminoacyl-histidine dipeptidase deficiency (disorder) | Carnosinemia (disorder) | Carnosinaemia | Carnosinemia,SNOMEDCT ID:237924005 | SNOMEDCT ID:13271000 | SNOMEDCT ID:410052008,,,carnosinemia,MONDO:0008921,,MeSH ID:C535328,homocarnosinosis,DOID:0060177,,OMIM ID:212200 +BMGC_DS14534,BMG_DS055287,Juvenile arthritis,UMLS ID:C3495559,Juvenile chronic arthritis | Juvenile arthritis | JCA - Juvenile chronic arthritis | Juvenile chronic arthritis (disorder),SNOMEDCT ID:239796000,,,juvenile idiopathic arthritis,MONDO:0011429,,,,,ICD10 ID:M08,OMIM ID:MTHU070181 | OMIM ID:604302 +BMGC_DS14535,BMG_DS055289,"Night Blindness, Congenital Stationary, Type 1A",UMLS ID:C3495587,,,,,congenital stationary night blindness 1A,MONDO:0010690,,MeSH ID:C536122,,,,OMIM ID:310500 +BMGC_DS14536,BMG_DS055290,Acrocephalopolydactylous Dysplasia,UMLS ID:C3495588,,,,,acrocephalopolydactyly,MONDO:0008709,,MeSH ID:C573722,,,,OMIM ID:200995 +BMGC_DS14537,BMG_DS055291,Jalili syndrome,UMLS ID:C3495589,Jalili syndrome | Amelogenesis imperfecta co-occurrent with cone rod dystrophy | Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder),SNOMEDCT ID:707608003,,,Jalili syndrome,MONDO:0009007,,MeSH ID:C000596385,Jalili syndrome,DOID:0111404,,OMIM ID:217080 +BMGC_DS14538,BMG_DS055293,"Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",UMLS ID:C3495591,,,,,Charcot-Marie-Tooth disease type 1E,MONDO:0007311,,MeSH ID:C566136,,,,OMIM ID:118300 +BMGC_DS14539,BMG_DS055295,,UMLS ID:C3495676,,,,,hereditary anorectal anomalies,MONDO:0007136,,,,,,OMIM ID:107100 +BMGC_DS14540,BMG_DS055296,NF1 Microduplication Syndrome,UMLS ID:C3495679,,,,,17q11.2 microduplication syndrome,MONDO:0015350,,MeSH ID:C567173,,,,OMIM ID:618874 +BMGC_DS14541,BMG_DS055298,Granulomatosis with polyangiitis,UMLS ID:C3495801,Necrotising respiratory granulomatosis | Necrotizing respiratory granulomatosis | Granulomatosis with polyangiitis | Granulomatosis with polyangiitis (disorder),SNOMEDCT ID:195353004,Granulomatosis with polyangiitis,ICD11 ID:4A44.A1,granulomatosis with polyangiitis,MONDO:0012105,,,granulomatosis with polyangiitis,DOID:12132,ICD10 ID:M31.3,OMIM ID:608710 +BMGC_DS14542,BMG_DS055300,Nonepileptic Seizures,UMLS ID:C3495874,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS14543,BMG_DS055304,"Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",UMLS ID:C3496228,,,,,hereditary spastic paraplegia 35,MONDO:0012866,,MeSH ID:C567311,,,,OMIM ID:612319 +BMGC_DS14544,BMG_DS055306,,UMLS ID:C3496337,,,,,idiopathic nephrotic syndrome,MONDO:0018170,,,,,, +BMGC_DS14545,BMG_DS055307,Middle aortic syndrome,UMLS ID:C3496579,Middle aortic syndrome | Middle aortic syndrome (disorder),SNOMEDCT ID:471268000,,,atypical coarctation of aorta,MONDO:0015446,,,,,, +BMGC_DS14546,BMG_DS055308,Parkinson Disease 13,UMLS ID:C3496588,,,,,,,,MeSH ID:C565204,,,, +BMGC_DS14547,BMG_DS055311,"Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",UMLS ID:C3501249,,,,,,,,MeSH ID:C537185,,,, +BMGC_DS14548,BMG_DS055312,"Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",UMLS ID:C3501265,,,,,,,,MeSH ID:C565236,,,, +BMGC_DS14549,BMG_DS055314,"Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive",UMLS ID:C3501372,,,,,,,,MeSH ID:C567624,,,, +BMGC_DS14550,BMG_DS055316,Mental Retardation associated with Psoriasis,UMLS ID:C3501539,,,,,X-linked intellectual disability-seizures-psoriasis syndrome,MONDO:0010652,,MeSH ID:C564107,,,,OMIM ID:309480 +BMGC_DS14551,BMG_DS055319,"Mental Retardation, X-Linked Nonsyndromic",UMLS ID:C3501611,,,,,non-syndromic X-linked intellectual disability,MONDO:0019181,,MeSH ID:C564490,,,, +BMGC_DS14552,BMG_DS055320,"Generalized Epilepsy With Febrile Seizures Plus, Type 5",UMLS ID:C3501643,,,,,,,,MeSH ID:C565812,,,, +BMGC_DS14553,BMG_DS055321,"Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to",UMLS ID:C3501647,,,,,,,,MeSH ID:C564217,,,, +BMGC_DS14554,BMG_DS055324,Bleeding Disorder due to Defective Thromboxane A2 Receptor,UMLS ID:C3501679,,,,,,,,MeSH ID:C566055,,,, +BMGC_DS14555,BMG_DS055326,T-Cell OKT4 Deficiency,UMLS ID:C3501681,,,,,,,,MeSH ID:C566080,,,, +BMGC_DS14556,BMG_DS055337,"Microcephaly, Primary Autosomal Recessive, 2",UMLS ID:C3501830,,,,,,,,MeSH ID:C565794,,,, +BMGC_DS14557,BMG_DS055345,"Night blindness, congenital stationary, type 1",UMLS ID:C3501847,,,,,,,,MeSH ID:C536122,,,, +BMGC_DS14558,BMG_DS055346,"Nephrosis, congenital",UMLS ID:C3501848,,,,,familial nephrotic syndrome,MONDO:0002350,,MeSH ID:C535761,familial nephrotic syndrome,DOID:2590,, +BMGC_DS14559,BMG_DS055347,Mngie Without Leukoencephalopathy,UMLS ID:C3501849,,,,,,,,MeSH ID:C536350,mitochondrial DNA depletion syndrome 8b | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 1,DOID:0080127;DOID:0070331;DOID:0080119,, +BMGC_DS14560,BMG_DS055352,,UMLS ID:C3501854,,,,,"leukemia, acute, X-linked",MONDO:0700060,,,,,,OMIM ID:308960 +BMGC_DS14561,BMG_DS055355,"Muscular Dystrophy, Limb-Girdle, Type 1D",UMLS ID:C3501858,,,,,,,,MeSH ID:C566370,,,, +BMGC_DS14562,BMG_DS055357,"Mitochondrial DNA Depletion Syndrome, Myopathic Form",UMLS ID:C3501891,,,,,,,,MeSH ID:C563698,mitochondrial DNA depletion syndrome 2,DOID:0080120,, +BMGC_DS14563,BMG_DS055362,Cerebrocostomandibular-Like Syndrome,UMLS ID:C3501912,,,,,,,,MeSH ID:C562538,,,, +BMGC_DS14564,BMG_DS055371,"Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive",UMLS ID:C3502051,,,,,,,,MeSH ID:C567348,,,, +BMGC_DS14565,BMG_DS055372,"Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant",UMLS ID:C3502052,,,,,,,,MeSH ID:C567347,,,, +BMGC_DS14566,BMG_DS055373,"Leukodystrophy, Dysmyelinating, with Oligodontia",UMLS ID:C3502054,,,,,odontoleukodystrophy,MONDO:0019177,,MeSH ID:C564344,,,, +BMGC_DS14567,BMG_DS055378,"Woolly Hair, Autosomal Recessive",UMLS ID:C3502073,,,,,,,,MeSH ID:C564735,,,, +BMGC_DS14568,BMG_DS055379,Multiple Mitochondrial Dysfunctions Syndrome,UMLS ID:C3502075,,,,,fatal multiple mitochondrial dysfunctions syndrome,MONDO:0017338,,MeSH ID:C565304,multiple mitochondrial dysfunctions syndrome,DOID:0070330,, +BMGC_DS14569,BMG_DS055380,"Dyskeratosis Congenita, Autosomal Recessive",UMLS ID:C3502105,,,,,,,,MeSH ID:C565611,,,, +BMGC_DS14570,BMG_DS055385,"Homocystinuria, Pyridoxine-Responsive",UMLS ID:C3502110,,,,,,,,MeSH ID:C565513,,,, +BMGC_DS14571,BMG_DS055386,"Adrenal Insufficiency, Congenital",UMLS ID:C3502131,,,,,,,,MeSH ID:C566130,,,, +BMGC_DS14572,BMG_DS055387,"Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",UMLS ID:C3502132,,,,,,,,MeSH ID:C566131,,,, +BMGC_DS14573,BMG_DS055394,Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities,UMLS ID:C3502214,,,,,,,,MeSH ID:C565898,microcephalic osteodysplastic primordial dwarfism type II,DOID:0060609,, +BMGC_DS14574,BMG_DS055400,"Deafness, Autosomal Recessive 36, Without Vestibular Involvement",UMLS ID:C3502293,,,,,,,,MeSH ID:C567219,,,, +BMGC_DS14575,BMG_DS055406,Atresia of External Auditory Canal and Conduction Deafness,UMLS ID:C3502361,,,,,atresia of external auditory canal and conductive deafness,MONDO:0007170,,MeSH ID:C566245,,,,OMIM ID:108760 +BMGC_DS14576,BMG_DS055419,"Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",UMLS ID:C3502469,,,,,BRESEK syndrome,MONDO:0019414,,MeSH ID:C564519,,,, +BMGC_DS14577,BMG_DS055420,"Microcephaly with Chorioretinopathy, Autosomal Recessive",UMLS ID:C3502492,,,,,,,,MeSH ID:C565379,,,, +BMGC_DS14578,BMG_DS055421,Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal,UMLS ID:C3502495,,,,,,,,MeSH ID:C565693,,,, +BMGC_DS14579,BMG_DS055432,Generalized Epilepsy with Febrile Seizures Plus,UMLS ID:C3502809,,,,,generalized epilepsy with febrile seizures plus,MONDO:0018214,,MeSH ID:C565808,generalized epilepsy with febrile seizures plus,DOID:0060170,, +BMGC_DS14580,BMG_DS055463,,UMLS ID:C3508773,,,,,Ehlers-Danlos syndrome type 7A,MONDO:0020521,,,,,, +BMGC_DS14581,BMG_DS055638,Mitochondrial cardiomyopathy,UMLS ID:C3532239,Mitochondrial cardiomyopathy (disorder) | Mitochondrial cardiomyopathy,SNOMEDCT ID:472315005,,,,,,,,,, +BMGC_DS14582,BMG_DS055642,Fatal infantile mitochondrial cardiomyopathy,UMLS ID:C3532243,Fatal infantile mitochondrial cardiomyopathy (disorder) | Fatal infantile mitochondrial cardiomyopathy,SNOMEDCT ID:472319004,,,,,,,,,, +BMGC_DS14583,BMG_DS055645,Fetal cardiomyopathy,UMLS ID:C3532247,Fetal cardiomyopathy | Fetal cardiomyopathy (disorder) | Foetal cardiomyopathy,SNOMEDCT ID:472323007,,,,,,,,,, +BMGC_DS14584,BMG_DS055736,,UMLS ID:C3536714,,,,,renal dysplasia,MONDO:0019638,,,,,, +BMGC_DS14585,BMG_DS055737,AA amyloidosis,UMLS ID:C3536715,AA amyloidosis | AA amyloidosis (disorder) | AA amyloidosis | Amyloid A amyloidosis (disorder) | Amyloid A amyloidosis,SNOMEDCT ID:84137001 | SNOMEDCT ID:274945004,,,AA amyloidosis,MONDO:0019439,,MeSH ID:C000718787,,,, +BMGC_DS14586,BMG_DS055738,Secondary systemic amyloidosis,UMLS ID:C3536716,Secondary systemic amyloidosis (disorder) | Secondary systemic amyloidosis,SNOMEDCT ID:858580008,AA amyloidosis,ICD11 ID:5D00.1,,,,,serum amyloid A amyloidosis,DOID:0080936,ICD10 ID:E85.3, +BMGC_DS14587,BMG_DS055741,Ichthyosis Congenita II,UMLS ID:C3536797,,,,,,,"Ichthyosis, Lamellar",MeSH ID:D017490,,,, +BMGC_DS14588,BMG_DS055746,Familial Hypophosphatemic Rickets,UMLS ID:C3536983,,,,,"vitamin D-dependent rickets, type 2",MONDO:0019642,Familial Hypophosphatemic Rickets,MeSH ID:D053098,,,, +BMGC_DS14589,BMG_DS055747,"Vitamin D-Resistant Rickets, X-Linked",UMLS ID:C3536984,,,,,,,Familial Hypophosphatemic Rickets,MeSH ID:D053098,,,, +BMGC_DS14590,BMG_DS055748,,UMLS ID:C3537017,,,,,inferolateral myocardial infarct,MONDO:0003676,,,inferolateral myocardial infarct,DOID:5852,, +BMGC_DS14591,BMG_DS055749,Ménière's Vertigo,UMLS ID:C3537146,,,,,,,Meniere Disease,MeSH ID:D008575,,,, +BMGC_DS14592,BMG_DS055752,"Cystinosis, Infantile Nephropathic",UMLS ID:C3537440,,,,,nephropathic infantile cystinosis,MONDO:0018467,,MeSH ID:C565655,,,, +BMGC_DS14593,BMG_DS055753,,UMLS ID:C3538945,,,,,"Kaposi sarcoma, susceptibility to",MONDO:0007845,,,,,,OMIM ID:148000 +BMGC_DS14594,BMG_DS055754,"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",UMLS ID:C3538946,,,,,autosomal recessive nonsyndromic hearing loss 4,MONDO:0010933,,,,,,OMIM ID:600791 | OMIM ID:601093 | OMIM ID:605646 +BMGC_DS14595,BMG_DS055755,"MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA",UMLS ID:C3538951,,,,,"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma",MONDO:0009633,,,,,,OMIM ID:602091 | OMIM ID:251750 +BMGC_DS14596,BMG_DS055756,DYSTONIA 23,UMLS ID:C3538999,,,,,dystonia 23,MONDO:0013928,,,,,,OMIM ID:614860 +BMGC_DS14597,BMG_DS055757,Hereditary sensory and autonomic neuropathy type 6,UMLS ID:C3539003,Hereditary sensory and autonomic neuropathy type 6 (disorder) | Familial dysautonomia with contractures | Hereditary sensory and autonomic neuropathy type VI | Hereditary sensory and autonomic neuropathy type 6 | HSAN6 - hereditary sensory and autonomic neuropathy type 6,SNOMEDCT ID:1279838005,,,hereditary sensory and autonomic neuropathy type 6,MONDO:0013839,,,,,,OMIM ID:614653 +BMGC_DS14598,BMG_DS055758,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F",UMLS ID:C3539010,,,,,,,,,peroxisome biogenesis disorder 5A,DOID:0080480,,OMIM ID:614866 +BMGC_DS14599,BMG_DS055759,AICARDI-GOUTIERES SYNDROME 6,UMLS ID:C3539013,,,,,Aicardi-Goutieres syndrome 6,MONDO:0014007,,,,,,OMIM ID:146920 | OMIM ID:615010 +BMGC_DS14600,BMG_DS055760,NEPHRONOPHTHISIS 14,UMLS ID:C3539071,,,,,nephronophthisis 14,MONDO:0013916,,,nephronophthisis 14,DOID:0111122,,OMIM ID:604557 | OMIM ID:614844 +BMGC_DS14601,BMG_DS055761,,UMLS ID:C3539120,,,,,"prostate cancer, hereditary, 2",MONDO:0013872,,,,,,OMIM ID:614731 +BMGC_DS14602,BMG_DS055762,"CEROID LIPOFUSCINOSIS, NEURONAL, 11",UMLS ID:C3539123,,,,,neuronal ceroid lipofuscinosis 11,MONDO:0013866,,,,,,OMIM ID:138945 | OMIM ID:614706 +BMGC_DS14603,BMG_DS055763,"USHER SYNDROME, TYPE IK",UMLS ID:C3539124,,,,,Usher syndrome type 1K,MONDO:0014001,,,,,,OMIM ID:614990 +BMGC_DS14604,BMG_DS055764,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A",UMLS ID:C3539168,,,,,,,,,peroxisome biogenesis disorder 7A,DOID:0080482,,OMIM ID:614872 +BMGC_DS14605,BMG_DS055765,"TREMOR, HEREDITARY ESSENTIAL, 4",UMLS ID:C3539195,,,,,"tremor, hereditary essential, 4",MONDO:0013888,,,essential tremor 4,DOID:0111431,,OMIM ID:614782 | OMIM ID:137070 +BMGC_DS14606,BMG_DS055766,"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE",UMLS ID:C3539494,,,,,hereditary spastic paraplegia 53,MONDO:0013962,,,,,,OMIM ID:614898 | OMIM ID:609927 +BMGC_DS14607,BMG_DS055767,"SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE",UMLS ID:C3539495,,,,,hereditary spastic paraplegia 54,MONDO:0014018,,,,,,OMIM ID:615003 | OMIM ID:615033 +BMGC_DS14608,BMG_DS055768,"SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",UMLS ID:C3539506,,,,,hereditary spastic paraplegia 55,MONDO:0014020,,,,,,OMIM ID:615035 | OMIM ID:613541 +BMGC_DS14609,BMG_DS055769,"SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE",UMLS ID:C3539507,,,,,hereditary spastic paraplegia 56,MONDO:0014015,,,,,,OMIM ID:610670 | OMIM ID:615030 +BMGC_DS14610,BMG_DS055770,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3",UMLS ID:C3539888,,,,,autosomal recessive congenital ichthyosis 3,MONDO:0011680,,,,,,OMIM ID:606545 | OMIM ID:607206 +BMGC_DS14611,BMG_DS055771,"MYOCLONUS, FAMILIAL CORTICAL",UMLS ID:C3539916,,,,,"myoclonus, familial, 1",MONDO:0100093,,,,,,OMIM ID:614937 +BMGC_DS14612,BMG_DS055772,"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",UMLS ID:C3539920,,,,,"ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive",MONDO:0013983,,,ectodermal dysplasia 11B,DOID:0111654,,OMIM ID:614941 | OMIM ID:606603 +BMGC_DS14613,BMG_DS055773,HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA,UMLS ID:C3540450,,,,,hypogonadotropic hypogonadism 14 with or without anosmia,MONDO:0013926,,,,,,OMIM ID:614858 +BMGC_DS14614,BMG_DS055774,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F",UMLS ID:C3540453,,,,,Charcot-Marie-Tooth disease type 4F,MONDO:0013959,,,,,,OMIM ID:614895 +BMGC_DS14615,BMG_DS055775,Congenital Amaurosis of Retinal Origin,UMLS ID:C3540662,,,,,,,Leber Congenital Amaurosis,MeSH ID:D057130,,,, +BMGC_DS14616,BMG_DS055776,"CILIARY DYSKINESIA, PRIMARY, 20",UMLS ID:C3540844,,,,,primary ciliary dyskinesia 20,MONDO:0014030,,,,,,OMIM ID:615038 | OMIM ID:615067 +BMGC_DS14617,BMG_DS055777,"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",UMLS ID:C3540845,,,,,"microphthalmia, isolated, with coloboma 8",MONDO:0800324,,,,,,OMIM ID:610745 +BMGC_DS14618,BMG_DS055778,"CATARACT 4, MULTIPLE TYPES",UMLS ID:C3540850,,,,,cataract 4 multiple types,MONDO:0007281,,,,,,OMIM ID:115700 | OMIM ID:123690 +BMGC_DS14619,BMG_DS055779,"Rickets, X-Linked Hypophosphatemic",UMLS ID:C3540852,,,,,X-linked hypophosphatemic rickets,MONDO:0020720,Familial Hypophosphatemic Rickets,MeSH ID:D053098,X-linked dominant hypophosphatemic rickets,DOID:0050445,, +BMGC_DS14620,BMG_DS055780,"SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",UMLS ID:C3541319,,,,,short stature-optic atrophy-Pelger-HuC+t anomaly syndrome,MONDO:0013889,,,,,,OMIM ID:608025 | OMIM ID:614800 +BMGC_DS14621,BMG_DS055781,PONTINE TEGMENTAL CAP DYSPLASIA,UMLS ID:C3541340,,,,,pontine tegmental cap dysplasia,MONDO:0013858,,,,,,OMIM ID:614688 +BMGC_DS14622,BMG_DS055783,,UMLS ID:C3541456,,,,,"spondyloepiphyseal dysplasia tarda, X-linked",MONDO:0010737,,,,,,OMIM ID:313400 +BMGC_DS14623,BMG_DS055786,HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA,UMLS ID:C3541462,,,,,hypogonadotropic hypogonadism 13 with or without anosmia,MONDO:0013915,,,,,,OMIM ID:614842 +BMGC_DS14624,BMG_DS055787,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1",UMLS ID:C3541471,,,,,mitochondrial complex III deficiency nuclear type 1,MONDO:0007415,,,mitochondrial complex III deficiency nuclear type 1,DOID:0080111,,OMIM ID:603647 | OMIM ID:124000 +BMGC_DS14625,BMG_DS055788,"ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE",UMLS ID:C3541474,,,,,"ectopia lentis 2, isolated, autosomal recessive",MONDO:0009152,,,autosomal recessive isolated ectopia lentis 2,DOID:0111149,,OMIM ID:610113 | OMIM ID:225100 +BMGC_DS14626,BMG_DS055789,"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",UMLS ID:C3541476,,,,,"congenital myopathy 10b, mild variant",MONDO:0859515,,,congenital myopathy 10B,DOID:0081345,,OMIM ID:620249 +BMGC_DS14627,BMG_DS055790,"ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT",UMLS ID:C3541517,,,,,"ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant",MONDO:0013982,,,ectodermal dysplasia 11A,DOID:0111653,,OMIM ID:606603 | OMIM ID:614940 +BMGC_DS14628,BMG_DS055791,"ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT",UMLS ID:C3541518,,,,,"ectopia lentis 1, isolated, autosomal dominant",MONDO:0007514,,,,,,OMIM ID:129600 | OMIM ID:134797 +BMGC_DS14629,BMG_DS055792,NEPHRONOPHTHISIS 15,UMLS ID:C3541853,,,,,nephronophthisis 15,MONDO:0013917,,,nephronophthisis 15,DOID:0111123,,OMIM ID:614845 | OMIM ID:614848 +BMGC_DS14630,BMG_DS055793,Drug Hypersensitivity Syndrome,UMLS ID:C3541994,,,,,drug rash with eosinophilia and systemic symptoms,MONDO:0015340,Drug Hypersensitivity Syndrome,MeSH ID:D063926,,,, +BMGC_DS14631,BMG_DS055794,Duchenne and Becker Muscular Dystrophy,UMLS ID:C3542021,,,,,,,"Muscular Dystrophy, Duchenne",MeSH ID:D020388,,,, +BMGC_DS14632,BMG_DS055795,"Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome",UMLS ID:C3542022,"SOFT syndrome | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome",SNOMEDCT ID:773625007,,,short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,MONDO:0013894,,,,,,OMIM ID:614813 +BMGC_DS14633,BMG_DS055796,AORTIC VALVE DISEASE 2,UMLS ID:C3542024,,,,,aortic valve disease 2,MONDO:0013902,,,aortic valve disease 2,DOID:0080334,,OMIM ID:602931 | OMIM ID:614823 +BMGC_DS14634,BMG_DS055797,"AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",UMLS ID:C3542025,,,,,,,,,,,,OMIM ID:105400 | OMIM ID:147450 +BMGC_DS14635,BMG_DS055798,PEROXISOME BIOGENESIS DISORDER 5B,UMLS ID:C3542026,,,,,peroxisome biogenesis disorder 5B,MONDO:0013933,,,Peroxisome biogenesis disorder 5B,DOID:0081434,,OMIM ID:614867 | OMIM ID:170993 +BMGC_DS14636,BMG_DS055799,Aminoacylase 2 Deficiency,UMLS ID:C3542499,,,,,,,Canavan Disease,MeSH ID:D017825,,,, +BMGC_DS14637,BMG_DS055800,ADH-Resistant Diabetes Insipidus,UMLS ID:C3542500,,,,,,,"Diabetes Insipidus, Nephrogenic",MeSH ID:D018500,,,, +BMGC_DS14638,BMG_DS055801,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY",UMLS ID:C3542549,,,,,hereditary spastic paraplegia 49,MONDO:0014016,,,,,,OMIM ID:615031 | OMIM ID:615000 +BMGC_DS14639,BMG_DS055802,"CILIARY DYSKINESIA, PRIMARY, 17",UMLS ID:C3542550,,,,,primary ciliary dyskinesia 17,MONDO:0013854,,,,,,OMIM ID:614677 | OMIM ID:614679 +BMGC_DS14640,BMG_DS055803,"IMMUNODEFICIENCY, COMMON VARIABLE, 7",UMLS ID:C3542922,,,,,"immunodeficiency, common variable, 7",MONDO:0013862,,,common variable immunodeficiency 7,DOID:0081150,,OMIM ID:120650 | OMIM ID:614699 +BMGC_DS14641,BMG_DS055805,"CILIARY DYSKINESIA, PRIMARY, 18",UMLS ID:C3543825,,,,,primary ciliary dyskinesia 18,MONDO:0013940,,,,,,OMIM ID:614864 | OMIM ID:614874 +BMGC_DS14642,BMG_DS055806,"CILIARY DYSKINESIA, PRIMARY, 19",UMLS ID:C3543826,,,,,primary ciliary dyskinesia 19,MONDO:0013979,,,,,,OMIM ID:614930 | OMIM ID:614935 +BMGC_DS14643,BMG_DS055809,Collodion Fetus,UMLS ID:C3543867,,,,,,,"Ichthyosis, Lamellar",MeSH ID:D017490,,,, +BMGC_DS14644,BMG_DS055815,,UMLS ID:C3544321,,,,,treatment-refractory schizophrenia,MONDO:0005414,,,,,, +BMGC_DS14645,BMG_DS055818,ALTERNATING HEMIPLEGIA OF CHILDHOOD 1,UMLS ID:C3549447,,,,,alternating hemiplegia of childhood 1,MONDO:0007087,,,,,,OMIM ID:104290 | OMIM ID:182340 +BMGC_DS14646,BMG_DS055819,NOR POLYAGGLUTINATION SYNDROME,UMLS ID:C3549486,,,,,,,,,,,,OMIM ID:111400 | OMIM ID:607922 +BMGC_DS14647,BMG_DS055820,ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL,UMLS ID:C3549544,,,,,,,,,,,,OMIM ID:608160 | OMIM ID:114290 +BMGC_DS14648,BMG_DS055826,"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1",UMLS ID:C3549845,,,,,"cholestasis, intrahepatic, of pregnancy, 1",MONDO:0007829,,,intrahepatic cholestasis of pregnancy 1,DOID:0070228,,OMIM ID:602397 | OMIM ID:147480 +BMGC_DS14649,BMG_DS055827,"MACROGLOBULINEMIA, WALDENSTROM, SOMATIC",UMLS ID:C3549870,,,,,,,,,,,,OMIM ID:602170 +BMGC_DS14650,BMG_DS055829,METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY,UMLS ID:C3549874,,,,,metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,MONDO:0007984,,,metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome,DOID:0111513,,OMIM ID:156510 +BMGC_DS14651,BMG_DS055831,,UMLS ID:C3550234,,,,,peroxisome biogenesis disorder 2B,MONDO:0008736,,,,,,OMIM ID:202370 +BMGC_DS14652,BMG_DS055832,,UMLS ID:C3550273,,,,,peroxisome biogenesis disorder 2A (Zellweger),MONDO:0008954,,,,,,OMIM ID:214110 +BMGC_DS14653,BMG_DS055833,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2",UMLS ID:C3550274,,,,,"peroxisome biogenesis disorder, complementation group 2",MONDO:0800298,,,peroxisome biogenesis disorder 2A,DOID:0080477,,OMIM ID:214110 +BMGC_DS14654,BMG_DS055836,"HYPERBILIRUBINEMIA, SHUNT, PRIMARY",UMLS ID:C3550398,,,,,"hyperbilirubinemia, shunt, primary",MONDO:0009382,,,,,,OMIM ID:237800 +BMGC_DS14655,BMG_DS055841,HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA,UMLS ID:C3550478,,,,,hypogonadotropic hypogonadism 3 with or without anosmia,MONDO:0009482,,,,,,OMIM ID:244200 | OMIM ID:607123 +BMGC_DS14656,BMG_DS055843,"POLYDACTYLY, POSTAXIAL, TYPE A5",UMLS ID:C3550661,,,,,"polydactyly, postaxial, type A5",MONDO:0009893,,,,,,OMIM ID:263450 +BMGC_DS14657,BMG_DS055844,PEROXISOME BIOGENESIS DISORDER 3B,UMLS ID:C3550693,,,,,peroxisome biogenesis disorder type 3B,MONDO:0009959,,,peroxisome biogenesis disorder 3B,DOID:0081241,,OMIM ID:266510 +BMGC_DS14658,BMG_DS055846,"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA",UMLS ID:C3550789,,,,,"thrombocytopenia, X-linked, with or without dyserythropoietic anemia",MONDO:0010308,,,,,,OMIM ID:300367 +BMGC_DS14659,BMG_DS055847,"ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",UMLS ID:C3550856,,,,,X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,MONDO:0010444,,,X-linked dyserythropoietic anemia,DOID:0112156,,OMIM ID:305371 | OMIM ID:300835 +BMGC_DS14660,BMG_DS055849,"AUTISM, SUSCEPTIBILITY TO, X-LINKED 6",UMLS ID:C3550875,,,,,epsilon-trimethyllysine hydroxylase deficiency,MONDO:0010469,,,,,,OMIM ID:300777 | OMIM ID:300872 +BMGC_DS14661,BMG_DS055850,CORNELIA DE LANGE SYNDROME 5,UMLS ID:C3550903,,,,,Cornelia de Lange syndrome 5,MONDO:0010471,,,Cornelia de Lange syndrome 5,DOID:0080509,,OMIM ID:300269 | OMIM ID:300882 +BMGC_DS14662,BMG_DS055851,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 32",UMLS ID:C3550913,,,,,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,MONDO:0010473,,,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,DOID:0060828,,OMIM ID:300886 +BMGC_DS14663,BMG_DS055852,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2,UMLS ID:C3550921,,,,,linear skin defects with multiple congenital anomalies 2,MONDO:0010474,,,linear skin defects with multiple congenital anomalies 2,DOID:0111877,,OMIM ID:300885 | OMIM ID:300887 +BMGC_DS14664,BMG_DS055854,"HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT",UMLS ID:C3550963,,,,,X-linked central congenital hypothyroidism with late-onset testicular enlargement,MONDO:0010475,,,,,,OMIM ID:300137 | OMIM ID:300888 +BMGC_DS14665,BMG_DS055855,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5,UMLS ID:C3550973,,,,,neurodegeneration with brain iron accumulation 5,MONDO:0010476,,,,,,OMIM ID:300526 | OMIM ID:300894 +BMGC_DS14666,BMG_DS055856,CHROMOSOME Xq21 DELETION SYNDROME,UMLS ID:C3551019,,,,,choroideremia-deafness-obesity syndrome,MONDO:0010558,,,,,,OMIM ID:303110 +BMGC_DS14667,BMG_DS055860,"PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF",UMLS ID:C3551133,,,,,"parotid salivary glands, polycystic dysgenetic disease of",MONDO:0010872,,,,,,OMIM ID:600343 +BMGC_DS14668,BMG_DS055861,UV-SENSITIVE SYNDROME 1,UMLS ID:C3551173,,,,,UV-sensitive syndrome 1,MONDO:0010909,,,,,,OMIM ID:609413 | OMIM ID:600630 +BMGC_DS14669,BMG_DS055863,"ECTODERMAL DYSPLASIA 8, HAIR/TOOTH/NAIL TYPE",UMLS ID:C3551424,,,,,Fried's tooth and nail syndrome,MONDO:0011219,,,,,,OMIM ID:602401 +BMGC_DS14670,BMG_DS055864,ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT,UMLS ID:C3551443,,,,,,,,,,,,OMIM ID:602588 +BMGC_DS14671,BMG_DS055866,CORTISONE REDUCTASE DEFICIENCY 1,UMLS ID:C3551716,,,,,cortisone reductase deficiency 1,MONDO:0011503,,,cortisone reductase deficiency 1,DOID:0090141,,OMIM ID:604931 | OMIM ID:138090 +BMGC_DS14672,BMG_DS055868,,UMLS ID:C3551915,,,,,familial meningioma,MONDO:0011789,,,,,,OMIM ID:607174 +BMGC_DS14673,BMG_DS055869,"COENZYME Q10 DEFICIENCY, PRIMARY, 1",UMLS ID:C3551954,,,,,"coenzyme Q10 deficiency, primary, 1",MONDO:0011829,,,primary coenzyme Q10 deficiency 1,DOID:0070238,,OMIM ID:607426 | OMIM ID:609825 +BMGC_DS14674,BMG_DS055870,ACHROMATOPSIA 6,UMLS ID:C3552227,,,,,achromatopsia 6,MONDO:0800197,,,,,,OMIM ID:601190 | OMIM ID:610024 +BMGC_DS14675,BMG_DS055871,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7",UMLS ID:C3552236,,,,,complex cortical dysplasia with other brain malformations 7,MONDO:0012399,,,complex cortical dysplasia with other brain malformations 7,DOID:0090132,,OMIM ID:610031 | OMIM ID:612850 +BMGC_DS14676,BMG_DS055873,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR",UMLS ID:C3552311,,,,,,,,,,,,OMIM ID:125645 +BMGC_DS14677,BMG_DS055874,"MYASTHENIC SYNDROME, CONGENITAL, 12",UMLS ID:C3552335,,,,,congenital myasthenic syndrome 12,MONDO:0012518,,,congenital myasthenic syndrome 12,DOID:0110660,,OMIM ID:138292 | OMIM ID:610542 +BMGC_DS14678,BMG_DS055875,HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA,UMLS ID:C3552343,,,,,hypogonadotropic hypogonadism 4 with or without anosmia,MONDO:0012528,,,,,,OMIM ID:607002 | OMIM ID:610628 +BMGC_DS14679,BMG_DS055883,HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA,UMLS ID:C3552553,,,,,hypogonadotropic hypogonadism 5 with or without anosmia,MONDO:0012880,,,,,,OMIM ID:612370 +BMGC_DS14680,BMG_DS055884,HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA,UMLS ID:C3552574,,,,,hypogonadotropic hypogonadism 6 with or without anosmia,MONDO:0012988,,,,,,OMIM ID:600483 | OMIM ID:612702 +BMGC_DS14681,BMG_DS055885,LYMPHOPROLIFERATIVE SYNDROME 1,UMLS ID:C3552634,,,,,lymphoproliferative syndrome 1,MONDO:0013081,,,,,,OMIM ID:186973 | OMIM ID:613011 +BMGC_DS14682,BMG_DS055886,RETINITIS PIGMENTOSA 65,UMLS ID:C3552852,,,,,retinitis pigmentosa 65,MONDO:0800352,,,cone-rod dystrophy 15,DOID:0111021,,OMIM ID:613660 | OMIM ID:609502 +BMGC_DS14683,BMG_DS055888,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8",UMLS ID:C3553029,,,,,autosomal recessive congenital ichthyosis 8,MONDO:0013495,,,,,,OMIM ID:613943 | OMIM ID:613924 +BMGC_DS14684,BMG_DS055889,"EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT",UMLS ID:C3553060,,,,,"Emery-Dreifuss muscular dystrophy 7, autosomal dominant",MONDO:0013677,,,autosomal dominant Emery-Dreifuss muscular dystrophy 7,DOID:0070252,,OMIM ID:612048 | OMIM ID:614302 +BMGC_DS14685,BMG_DS055890,"MICROPHTHALMIA, SYNDROMIC 11",UMLS ID:C3553077,,,,,"microphthalmia, syndromic 11",MONDO:0013734,,,syndromic microphthalmia 11,DOID:0111804,,OMIM ID:614402 | OMIM ID:604294 +BMGC_DS14686,BMG_DS055893,COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation,UMLS ID:C3553230,Component of oligomeric golgi complex 6-congenital disorder of glycosylation | Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | Congenital disorder of glycosylation type 2l | COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | Congenital disorder of glycosylation type IIL,SNOMEDCT ID:1220574003,,,COG6-congenital disorder of glycosylation,MONDO:0013810,,,,,,OMIM ID:614576 +BMGC_DS14687,BMG_DS055894,COFFIN-SIRIS SYNDROME 2,UMLS ID:C3553247,,,,,"intellectual disability, autosomal dominant 14",MONDO:0013819,,,Coffin-Siris syndrome 2,DOID:0070044,,OMIM ID:603024 | OMIM ID:614607 +BMGC_DS14688,BMG_DS055895,COFFIN-SIRIS SYNDROME 3,UMLS ID:C3553248,,,,,"intellectual disability, autosomal dominant 15",MONDO:0013820,,,Coffin-Siris syndrome 3,DOID:0070045,,OMIM ID:614608 | OMIM ID:601607 +BMGC_DS14689,BMG_DS055896,COFFIN-SIRIS SYNDROME 4,UMLS ID:C3553249,,,,,"intellectual disability, autosomal dominant 16",MONDO:0013821,,,Coffin-Siris syndrome 4,DOID:0070046,,OMIM ID:614609 | OMIM ID:603254 +BMGC_DS14690,BMG_DS055897,ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE,UMLS ID:C3553250,,,,,acrodysostosis 2 with or without hormone resistance,MONDO:0013822,,,,,,OMIM ID:614613 +BMGC_DS14691,BMG_DS055898,JOUBERT SYNDROME 17,UMLS ID:C3553264,,,,,Joubert syndrome 17,MONDO:0013824,,,Joubert syndrome 17,DOID:0110986,,OMIM ID:614615 | OMIM ID:614571 +BMGC_DS14692,BMG_DS055899,DIARRHEA 6,UMLS ID:C3553270,,,,,congenital diarrhea 6,MONDO:0013825,,,,,,OMIM ID:601330 | OMIM ID:614616 +BMGC_DS14693,BMG_DS055907,HYPEREKPLEXIA 3,UMLS ID:C3553288,,,,,hyperekplexia 3,MONDO:0013827,,,,,,OMIM ID:614618 +BMGC_DS14694,BMG_DS055908,HYPEREKPLEXIA 2,UMLS ID:C3553291,,,,,hyperekplexia 2,MONDO:0013828,,,,,,OMIM ID:138492 | OMIM ID:614619 +BMGC_DS14695,BMG_DS055909,UV-SENSITIVE SYNDROME 2,UMLS ID:C3553298,,,,,UV-sensitive syndrome 2,MONDO:0013829,,,,,,OMIM ID:609412 | OMIM ID:614621 +BMGC_DS14696,BMG_DS055910,KERATOCONUS 5,UMLS ID:C3553302,,,,,keratoconus 5,MONDO:0013830,,,,,,OMIM ID:614622 +BMGC_DS14697,BMG_DS055911,KERATOCONUS 6,UMLS ID:C3553306,,,,,keratoconus 6,MONDO:0013831,,,,,,OMIM ID:614623 +BMGC_DS14698,BMG_DS055912,KERATOCONUS 8,UMLS ID:C3553307,,,,,keratoconus 8,MONDO:0013832,,,,,,OMIM ID:614628 +BMGC_DS14699,BMG_DS055913,KERATOCONUS 7,UMLS ID:C3553308,,,,,keratoconus 7,MONDO:0013833,,,,,,OMIM ID:614629 +BMGC_DS14700,BMG_DS055914,UV-SENSITIVE SYNDROME 3,UMLS ID:C3553328,,,,,UV-sensitive syndrome 3,MONDO:0013834,,,,,,OMIM ID:614632 | OMIM ID:614640 +BMGC_DS14701,BMG_DS055915,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7",UMLS ID:C3553330,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",MONDO:0013835,,,congenital muscular dystrophy-dystroglycanopathy A7,DOID:0111234,,OMIM ID:614631 | OMIM ID:614643 +BMGC_DS14702,BMG_DS055916,"COENZYME Q10 DEFICIENCY, PRIMARY, 6",UMLS ID:C3553349,,,,,familial steroid-resistant nephrotic syndrome with sensorineural deafness,MONDO:0013836,,,primary coenzyme Q10 deficiency 6,DOID:0070243,,OMIM ID:614647 | OMIM ID:614650 +BMGC_DS14703,BMG_DS055917,"COENZYME Q10 DEFICIENCY, PRIMARY, 2",UMLS ID:C3553354,,,,,deafness-encephaloneuropathy-obesity-valvulopathy syndrome,MONDO:0013837,,,primary coenzyme Q10 deficiency 2,DOID:0070239,,OMIM ID:607429 | OMIM ID:614651 +BMGC_DS14704,BMG_DS055918,"COENZYME Q10 DEFICIENCY, PRIMARY, 3",UMLS ID:C3553358,,,,,"coenzyme Q10 deficiency, primary, 3",MONDO:0013838,,,primary coenzyme Q10 deficiency 3,DOID:0070240,,OMIM ID:614652 | OMIM ID:610564 +BMGC_DS14705,BMG_DS055919,"COENZYME Q10 DEFICIENCY, PRIMARY, 5",UMLS ID:C3553374,,,,,encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,MONDO:0013840,,,primary coenzyme Q10 deficiency 5,DOID:0070242,,OMIM ID:612837 | OMIM ID:614654 +BMGC_DS14706,BMG_DS055921,CORTISONE REDUCTASE DEFICIENCY 2,UMLS ID:C3553382,,,,,cortisone reductase deficiency 2,MONDO:0013842,,,cortisone reductase deficiency 2,DOID:0090140,,OMIM ID:600713 | OMIM ID:614662 +BMGC_DS14707,BMG_DS055923,"STUTTERING, FAMILIAL PERSISTENT, 4",UMLS ID:C3553403,,,,,"stuttering, familial persistent, 4",MONDO:0013844,,,,,,OMIM ID:614668 +BMGC_DS14708,BMG_DS055924,AURICULOCONDYLAR SYNDROME 2A,UMLS ID:C3553404,,,,,auriculocondylar syndrome 2,MONDO:0013845,,,,,,OMIM ID:600810 | OMIM ID:614669 +BMGC_DS14709,BMG_DS055926,CHROMOSOME 16p11.2 DUPLICATION SYNDROME,UMLS ID:C3553407,,,,,chromosome 16p11.2 duplication syndrome,MONDO:0013847,,,,,,OMIM ID:614671 +BMGC_DS14710,BMG_DS055928,"CARDIOMYOPATHY, DILATED, 2B",UMLS ID:C3553409,,,,,dilated cardiomyopathy 2B,MONDO:0013848,,,,,,OMIM ID:614518 | OMIM ID:614672 +BMGC_DS14711,BMG_DS055929,"MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C3553414,,,,,"microcephaly 8, primary, autosomal recessive",MONDO:0013849,,,primary autosomal recessive microcephaly 8,DOID:0070282,,OMIM ID:611423 | OMIM ID:614673 +BMGC_DS14712,BMG_DS055930,Menstrual cycle dependent periodic fever,UMLS ID:C3553418,Luteal phase dependent febrile episode | Luteal phase dependent periodic fever | Menstrual cycle dependent periodic fever (disorder) | Menstrual cycle dependent febrile episode | Menstrual cycle dependent periodic fever,SNOMEDCT ID:1169366007,,,menstrual cycle-dependent periodic fever,MONDO:0044660,,,,,,OMIM ID:614674 +BMGC_DS14713,BMG_DS055932,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 21",UMLS ID:C3553442,,,,,hypertrophic cardiomyopathy 21,MONDO:0013852,,,hypertrophic cardiomyopathy 21,DOID:0110311,,OMIM ID:614676 +BMGC_DS14714,BMG_DS055933,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B",UMLS ID:C3553449,,,,,pontocerebellar hypoplasia type 1B,MONDO:0013853,,,pontocerebellar hypoplasia type 1B,DOID:0060266,,OMIM ID:606489 | OMIM ID:614678 +BMGC_DS14715,BMG_DS055934,Profound global developmental delay,UMLS ID:C3553450,,,,,,,,,,,,OMIM ID:MTHU051054 +BMGC_DS14716,BMG_DS055935,,UMLS ID:C3553462,,,,,"influenza, severe, susceptibility to",MONDO:0013855,,,,,,OMIM ID:614680 +BMGC_DS14717,BMG_DS055936,"HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITAL ABNORMALITIES, IMPAIRED INTELLECTUAL DEVELOPMENT, AND RECURRENT INFLAMMATORY EPISODES",UMLS ID:C3553465,,,,,"hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes",MONDO:0013856,,,,,,OMIM ID:614684 +BMGC_DS14718,BMG_DS055938,"ALAR CLEFT, ISOLATED",UMLS ID:C3553476,,,,,"alar cleft, isolated",MONDO:0013857,,,,,,OMIM ID:614687 +BMGC_DS14719,BMG_DS055939,CATARACT 38,UMLS ID:C3553494,,,,,cataract 38,MONDO:0013859,,,,,,OMIM ID:610345 | OMIM ID:614691 +BMGC_DS14720,BMG_DS055940,"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY",UMLS ID:C3553512,,,,,combined immunodeficiency due to LRBA deficiency,MONDO:0013863,,,common variable immunodeficiency 8,DOID:0081151,,OMIM ID:614700 | OMIM ID:606453 +BMGC_DS14721,BMG_DS055941,CORNELIA DE LANGE SYNDROME 4,UMLS ID:C3553517,,,,,Cornelia de Lange syndrome 4,MONDO:0013864,,,,,,OMIM ID:614701 | OMIM ID:606462 +BMGC_DS14722,BMG_DS055942,,UMLS ID:C3553538,,,,,Brown-Vialetto-van Laere syndrome 2,MONDO:0013867,,,,,,OMIM ID:614707 +BMGC_DS14723,BMG_DS055943,"POROKERATOSIS 7, MULTIPLE TYPES",UMLS ID:C3553549,,,,,"porokeratosis 7, multiple types",MONDO:0013868,,,,,,OMIM ID:603236 | OMIM ID:614714 +BMGC_DS14724,BMG_DS055944,Carbohydrate deficient glycoprotein syndrome type 2k,UMLS ID:C3553571,Carbohydrate deficient glycoprotein syndrome type 2k (disorder) | Carbohydrate deficient glycoprotein syndrome type 2k | Carbohydrate deficient glycoprotein syndrome type IIk | Congenital disorder of glycosylation type 2k | Congenital disorder of glycosylation type IIk | TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation | Transmembrane protein 165 congenital disorder of glycosylation,SNOMEDCT ID:732252005,,,TMEM165-congenital disorder of glycosylation,MONDO:0013870,,,,,,OMIM ID:614727 +BMGC_DS14725,BMG_DS055945,SECKEL SYNDROME 6,UMLS ID:C3553582,,,,,Seckel syndrome 6,MONDO:0013871,,,Seckel syndrome 6,DOID:0070006,,OMIM ID:614724 | OMIM ID:614728 +BMGC_DS14726,BMG_DS055946,GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY,UMLS ID:C3553587,,,,,glucocorticoid deficiency 4,MONDO:0013874,,,,,,OMIM ID:607878 | OMIM ID:614736 +BMGC_DS14727,BMG_DS055947,,UMLS ID:C3553606,,,,,"basal cell carcinoma, susceptibility to, 7",MONDO:0013876,,,,,,OMIM ID:614740 +BMGC_DS14728,BMG_DS055948,Mitochondrial pyruvate carrier deficiency,UMLS ID:C3553607,Mitochondrial pyruvate carrier deficiency | Mitochondrial pyruvate carrier deficiency (disorder),SNOMEDCT ID:1217212009,,,mitochondrial pyruvate carrier deficiency,MONDO:0013877,,,,,,OMIM ID:614741 +BMGC_DS14729,BMG_DS055949,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1",UMLS ID:C3553617,,,,,"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1",MONDO:0013878,,,,,,OMIM ID:187270 | OMIM ID:614742 +BMGC_DS14730,BMG_DS055950,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2",UMLS ID:C3553622,,,,,"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2",MONDO:0013879,,,,,,OMIM ID:614743 | OMIM ID:602322 +BMGC_DS14731,BMG_DS055951,"FACIAL PARESIS, HEREDITARY CONGENITAL, 3",UMLS ID:C3553625,,,,,"facial paresis, hereditary congenital, 3",MONDO:0013880,,,,,,OMIM ID:614744 | OMIM ID:142968 +BMGC_DS14732,BMG_DS055952,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2,UMLS ID:C3553637,,,,,hyperphosphatasia with intellectual disability syndrome 2,MONDO:0013882,,,hyperphosphatasia with impaired intellectual development syndrome 2,DOID:0070434,,OMIM ID:614730 | OMIM ID:614749 +BMGC_DS14733,BMG_DS055953,"MYASTHENIC SYNDROME, CONGENITAL, 13",UMLS ID:C3553645,,,,,congenital myasthenic syndrome 13,MONDO:0013883,,,congenital myasthenic syndrome 13,DOID:0110676,,OMIM ID:191350 | OMIM ID:614750 +BMGC_DS14734,BMG_DS055954,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12",UMLS ID:C3553656,,,,,"neuronopathy, distal hereditary motor, type 5B",MONDO:0013884,,,autosomal dominant distal hereditary motor neuronopathy 12,DOID:0111205,,OMIM ID:614751 | OMIM ID:609139 +BMGC_DS14735,BMG_DS055955,Malan overgrowth syndrome,UMLS ID:C3553660,Malan overgrowth syndrome | Sotos syndrome 2 | Malan overgrowth syndrome (disorder),SNOMEDCT ID:763795006,,,Malan overgrowth syndrome,MONDO:0013885,,,,,,OMIM ID:614753 +BMGC_DS14736,BMG_DS055956,CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES,UMLS ID:C3553661,,,,,cerebellar dysfunction with variable cognitive and behavioral abnormalities,MONDO:0013886,,,nonprogressive cerebellar ataxia with mental retardation,DOID:0050998,,OMIM ID:614756 | OMIM ID:611501 +BMGC_DS14737,BMG_DS055957,"HETEROTAXY, VISCERAL, 6, AUTOSOMAL",UMLS ID:C3553676,,,,,"heterotaxy, visceral, 6, autosomal",MONDO:0013887,,,,,,OMIM ID:614779 | OMIM ID:614759 +BMGC_DS14738,BMG_DS055958,AMYOTROPHIC LATERAL SCLEROSIS 18,UMLS ID:C3553719,,,,,amyotrophic lateral sclerosis type 18,MONDO:0013891,,,amyotrophic lateral sclerosis type 18,DOID:0060209,,OMIM ID:614808 | OMIM ID:176610 +BMGC_DS14739,BMG_DS055959,C3 GLOMERULOPATHY 3,UMLS ID:C3553720,,,,,,,,,,,,OMIM ID:608593 | OMIM ID:614809 +BMGC_DS14740,BMG_DS055960,,UMLS ID:C3553728,,,,,"multiple sclerosis, susceptibility to, 5",MONDO:0013893,,,,,,OMIM ID:614810 +BMGC_DS14741,BMG_DS055961,ADAMS-OLIVER SYNDROME 3,UMLS ID:C3553748,,,,,Adams-Oliver syndrome 3,MONDO:0013895,,,,,,OMIM ID:614814 | OMIM ID:147183 +BMGC_DS14742,BMG_DS055962,JOUBERT SYNDROME 18,UMLS ID:C3553758,,,,,Joubert syndrome 18,MONDO:0013896,,,Joubert syndrome 18,DOID:0110987,,OMIM ID:613847 | OMIM ID:614815 +BMGC_DS14743,BMG_DS055963,LOEYS-DIETZ SYNDROME 4,UMLS ID:C3553762,,,,,Loeys-Dietz syndrome 4,MONDO:0013897,,,Loeys-Dietz syndrome 4,DOID:0070233,,OMIM ID:190220 | OMIM ID:614816 +BMGC_DS14744,BMG_DS055964,"INTERSTITIAL NEPHRITIS, KARYOMEGALIC",UMLS ID:C3553774,,,,,karyomegalic interstitial nephritis,MONDO:0013898,,,,,,OMIM ID:614817 | OMIM ID:613534 +BMGC_DS14745,BMG_DS055966,WEILL-MARCHESANI SYNDROME 3,UMLS ID:C3553785,,,,,Weill-Marchesani syndrome 3,MONDO:0013899,,,,,,OMIM ID:614819 | OMIM ID:602091 +BMGC_DS14746,BMG_DS055967,ALTERNATING HEMIPLEGIA OF CHILDHOOD 2,UMLS ID:C3553788,,,,,alternating hemiplegia of childhood 2,MONDO:0013900,,,,,,OMIM ID:182350 | OMIM ID:614820 +BMGC_DS14747,BMG_DS055968,SPERMATOGENIC FAILURE 10,UMLS ID:C3553793,,,,,spermatogenic failure 10,MONDO:0013901,,,spermatogenic failure 10,DOID:0070178,,OMIM ID:614822 +BMGC_DS14748,BMG_DS055969,,UMLS ID:C3553794,,,,,spermatogenic failure,MONDO:0004983,,,,,, +BMGC_DS14749,BMG_DS055970,"NYSTAGMUS 7, CONGENITAL, AUTOSOMAL DOMINANT",UMLS ID:C3553801,,,,,"nystagmus 7, congenital, autosomal dominant",MONDO:0013903,,,congenital nystagmus 7,DOID:0111791,,OMIM ID:614826 +BMGC_DS14750,BMG_DS055971,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8",UMLS ID:C3553813,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8",MONDO:0013904,,,congenital muscular dystrophy-dystroglycanopathy type A8,DOID:0111231,,OMIM ID:614828 | OMIM ID:614830 +BMGC_DS14751,BMG_DS055972,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",UMLS ID:C3553816,,,,,autosomal recessive spinocerebellar ataxia 13,MONDO:0013905,,,autosomal recessive spinocerebellar ataxia 13,DOID:0080062,,OMIM ID:604473 | OMIM ID:614831 +BMGC_DS14752,BMG_DS055973,"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4",UMLS ID:C3553830,,,,,amelogenesis imperfecta hypomaturation type 2A4,MONDO:0013906,,,,,,OMIM ID:614829 | OMIM ID:614832 +BMGC_DS14753,BMG_DS055974,"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES",UMLS ID:C3553831,,,,,microcephalic primordial dwarfism due to RTTN deficiency,MONDO:0018764,,,,,,OMIM ID:614833 +BMGC_DS14754,BMG_DS055977,HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA,UMLS ID:C3553841,,,,,hypogonadotropic hypogonadism 8 with or without anosmia,MONDO:0013910,,,,,,OMIM ID:614837 +BMGC_DS14755,BMG_DS055978,HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA,UMLS ID:C3553842,,,,,hypogonadotropic hypogonadism 9 with or without anosmia,MONDO:0013911,,,,,,OMIM ID:614838 +BMGC_DS14756,BMG_DS055979,HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA,UMLS ID:C3553843,,,,,hypogonadotropic hypogonadism 10 with or without anosmia,MONDO:0013912,,,,,,OMIM ID:162330 | OMIM ID:614839 +BMGC_DS14757,BMG_DS055980,HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA,UMLS ID:C3553844,,,,,hypogonadotropic hypogonadism 11 with or without anosmia,MONDO:0013913,,,,,,OMIM ID:614840 +BMGC_DS14758,BMG_DS055981,JOUBERT SYNDROME 19,UMLS ID:C3553846,,,,,Joubert syndrome 19,MONDO:0800363,,,nephronophthisis 14,DOID:0111122,,OMIM ID:604557 | OMIM ID:614844 +BMGC_DS14759,BMG_DS055982,TETRASOMY 15q26,UMLS ID:C3553858,,,,,distal tetrasomy 15q,MONDO:0013918,,,,,,OMIM ID:614846 +BMGC_DS14760,BMG_DS055983,,UMLS ID:C3553859,,,,,"epilepsy, idiopathic generalized, susceptibility to, 12",MONDO:0013919,,,,,,OMIM ID:614847 +BMGC_DS14761,BMG_DS055984,,UMLS ID:C3553868,,,,,"herpes simplex encephalitis, susceptibility to, 3",MONDO:0013920,,,,,,OMIM ID:614849 +BMGC_DS14762,BMG_DS055985,,UMLS ID:C3553869,,,,,"herpes simplex encephalitis, susceptibility to, 4",MONDO:0013921,,,,,,OMIM ID:614850 +BMGC_DS14763,BMG_DS055986,SECKEL SYNDROME 7,UMLS ID:C3553870,,,,,Seckel syndrome 7,MONDO:0013922,,,Seckel syndrome 7,DOID:0070011,,OMIM ID:614851 | OMIM ID:608684 +BMGC_DS14764,BMG_DS055987,"MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C3553886,,,,,"microcephaly 9, primary, autosomal recessive",MONDO:0013923,,,primary autosomal recessive microcephaly 9,DOID:0070292,,OMIM ID:614852 | OMIM ID:613529 +BMGC_DS14765,BMG_DS055988,"OSTEOGENESIS IMPERFECTA, TYPE XIII",UMLS ID:C3553887,,,,,osteogenesis imperfecta type 13,MONDO:0013924,,,,,,OMIM ID:112264 | OMIM ID:614856 +BMGC_DS14766,BMG_DS055989,,UMLS ID:C3553915,,,,,"methylmalonic acidemia with homocystinuria, type cblJ",MONDO:0013925,,,,,,OMIM ID:614857 +BMGC_DS14767,BMG_DS055990,,UMLS ID:C3553929,,,,,peroxisome biogenesis disorder 3A (Zellweger),MONDO:0013927,,,,,,OMIM ID:614859 +BMGC_DS14768,BMG_DS055991,"DEAFNESS, AUTOSOMAL RECESSIVE 98",UMLS ID:C3553932,,,,,autosomal recessive nonsyndromic hearing loss 98,MONDO:0013929,,,,,,OMIM ID:612920 | OMIM ID:614861 +BMGC_DS14769,BMG_DS055992,,UMLS ID:C3553936,,,,,peroxisome biogenesis disorder 4A (Zellweger),MONDO:0013930,,,,,,OMIM ID:614862 +BMGC_DS14770,BMG_DS055993,PEROXISOME BIOGENESIS DISORDER 4B,UMLS ID:C3553937,,,,,peroxisome biogenesis disorder 4B,MONDO:0013931,,,Peroxisome biogenesis disorder 4B,DOID:0081433,,OMIM ID:601498 | OMIM ID:614863 +BMGC_DS14771,BMG_DS055994,,UMLS ID:C3553940,,,,,peroxisome biogenesis disorder 5A (Zellweger),MONDO:0013932,,,,,,OMIM ID:614866 +BMGC_DS14772,BMG_DS055995,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5",UMLS ID:C3553941,,,,,,,,,peroxisome biogenesis disorder 5A,DOID:0080480,,OMIM ID:614866 +BMGC_DS14773,BMG_DS055996,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10",UMLS ID:C3553942,,,,,,,,,peroxisome biogenesis disorder 5A,DOID:0080480,,OMIM ID:614866 +BMGC_DS14774,BMG_DS055997,IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION,UMLS ID:C3553943,,,,,combined immunodeficiency due to STK4 deficiency,MONDO:0013934,,,,,,OMIM ID:604965 | OMIM ID:614868 +BMGC_DS14775,BMG_DS055998,"USHER SYNDROME, TYPE IJ",UMLS ID:C3553944,,,,,Usher syndrome type 1J,MONDO:0013935,,,,,,OMIM ID:605564 | OMIM ID:614869 +BMGC_DS14776,BMG_DS055999,,UMLS ID:C3553947,,,,,peroxisome biogenesis disorder 6A (Zellweger),MONDO:0013936,,,,,,OMIM ID:614870 +BMGC_DS14777,BMG_DS056000,,UMLS ID:C3553948,,,,,peroxisome biogenesis disorder 6B,MONDO:0013937,,,,,,OMIM ID:614871 +BMGC_DS14778,BMG_DS056001,"PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8",UMLS ID:C3553950,,,,,,,,,peroxisome biogenesis disorder 7A,DOID:0080482,,OMIM ID:614872 +BMGC_DS14779,BMG_DS056002,,UMLS ID:C3553951,,,,,peroxisome biogenesis disorder 7B,MONDO:0013939,,,,,,OMIM ID:614873 +BMGC_DS14780,BMG_DS056003,METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA,UMLS ID:C3553958,,,,,metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,MONDO:0013941,,,,,,OMIM ID:614875 +BMGC_DS14781,BMG_DS056004,,UMLS ID:C3553959,,,,,peroxisome biogenesis disorder 8A (Zellweger),MONDO:0013942,,,,,,OMIM ID:614876 +BMGC_DS14782,BMG_DS056005,,UMLS ID:C3553960,,,,,peroxisome biogenesis disorder 8B,MONDO:0013943,,,,,,OMIM ID:614877 +BMGC_DS14783,BMG_DS056006,"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",UMLS ID:C3553961,,,,,autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,MONDO:0013944,,,"autoinflammation, antibody deficiency, and immune dysregulation syndrome",DOID:0070615,,OMIM ID:614878 +BMGC_DS14784,BMG_DS056007,HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA,UMLS ID:C3553977,,,,,hypogonadotropic hypogonadism 15 with or without anosmia,MONDO:0013946,,,,,,OMIM ID:614880 +BMGC_DS14785,BMG_DS056010,PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER),UMLS ID:C3553999,,,,,peroxisome biogenesis disorder 10A (Zellweger),MONDO:0013948,,,peroxisome biogenesis disorder 10A,DOID:0080484,,OMIM ID:603164 | OMIM ID:614882 +BMGC_DS14786,BMG_DS056011,PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER),UMLS ID:C3554000,,,,,peroxisome biogenesis disorder 11A (Zellweger),MONDO:0013949,,,peroxisome biogenesis disorder 11A,DOID:0080485,,OMIM ID:601789 | OMIM ID:614883 +BMGC_DS14787,BMG_DS056012,PEROXISOME BIOGENESIS DISORDER 11B,UMLS ID:C3554001,,,,,peroxisome biogenesis disorder 11B,MONDO:0013950,,,Peroxisome biogenesis disorder 11B,DOID:0081439,,OMIM ID:614885 | OMIM ID:601789 +BMGC_DS14788,BMG_DS056013,PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER),UMLS ID:C3554002,,,,,peroxisome biogenesis disorder 12A (Zellweger),MONDO:0013951,,,peroxisome biogenesis disorder 12A,DOID:0080486,,OMIM ID:600279 | OMIM ID:614886 +BMGC_DS14789,BMG_DS056014,PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER),UMLS ID:C3554004,,,,,peroxisome biogenesis disorder 13A (Zellweger),MONDO:0013952,,,peroxisome biogenesis disorder 13A,DOID:0080487,,OMIM ID:601791 | OMIM ID:614887 +BMGC_DS14790,BMG_DS056015,SINOATRIAL NODE DYSFUNCTION AND DEAFNESS,UMLS ID:C3554018,,,,,sinoatrial node dysfunction and deafness,MONDO:0013960,,,,,,OMIM ID:114206 | OMIM ID:614896 +BMGC_DS14791,BMG_DS056016,HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA,UMLS ID:C3554021,,,,,hypogonadotropic hypogonadism 16 with or without anosmia,MONDO:0013961,,,,,,OMIM ID:614897 +BMGC_DS14792,BMG_DS056017,DIAMOND-BLACKFAN ANEMIA 11,UMLS ID:C3554042,,,,,Diamond-Blackfan anemia 11,MONDO:0013964,,,Diamond-Blackfan anemia 11,DOID:0111892,,OMIM ID:603704 | OMIM ID:614900 +BMGC_DS14793,BMG_DS056018,LETHAL CONGENITAL CONTRACTURE SYNDROME 4,UMLS ID:C3554046,,,,,lethal congenital contracture syndrome 4,MONDO:0013965,,,lethal congenital contracture syndrome 4,DOID:0060654,,OMIM ID:160794 | OMIM ID:614915 +BMGC_DS14794,BMG_DS056019,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4",UMLS ID:C3554047,,,,,catecholaminergic polymorphic ventricular tachycardia 4,MONDO:0013966,,,,,,OMIM ID:114180 | OMIM ID:614916 +BMGC_DS14795,BMG_DS056020,PEROXISOME BIOGENESIS DISORDER 14B,UMLS ID:C3554055,,,,,peroxisome biogenesis disorder 14B,MONDO:0013967,,,peroxisome biogenesis disorder 14B,DOID:0081274,,OMIM ID:603867 | OMIM ID:614920 +BMGC_DS14796,BMG_DS056021,BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY,UMLS ID:C3554078,,,,,branched-chain keto acid dehydrogenase kinase deficiency,MONDO:0013970,,,,,,OMIM ID:614923 +BMGC_DS14797,BMG_DS056022,PERRAULT SYNDROME 2,UMLS ID:C3554105,,,,,Perrault syndrome 2,MONDO:0013972,,,,,,OMIM ID:614926 | OMIM ID:600783 +BMGC_DS14798,BMG_DS056023,"ECTODERMAL DYSPLASIA 5, HAIR/NAIL TYPE",UMLS ID:C3554108,,,,,"ectodermal dysplasia 5, hair/nail type",MONDO:0013973,,,ectodermal dysplasia 5,DOID:0111657,,OMIM ID:614927 +BMGC_DS14799,BMG_DS056024,"ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE",UMLS ID:C3554111,,,,,"ectodermal dysplasia 6, hair/nail type",MONDO:0013974,,,ectodermal dysplasia 6,DOID:0111659,,OMIM ID:614928 +BMGC_DS14800,BMG_DS056025,"ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE",UMLS ID:C3554117,,,,,"ectodermal dysplasia 7, hair/nail type",MONDO:0013975,,,ectodermal dysplasia 7,DOID:0111660,,OMIM ID:608248 | OMIM ID:614929 +BMGC_DS14801,BMG_DS056026,"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE",UMLS ID:C3554127,,,,,"ectodermal dysplasia 9, hair/nail type",MONDO:0013976,,,ectodermal dysplasia 9,DOID:0111656,,OMIM ID:142976 | OMIM ID:614931 +BMGC_DS14802,BMG_DS056027,"PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IB",UMLS ID:C3554145,,,,,"palmoplantar keratoderma, punctate type ib",MONDO:0013980,,,,,,OMIM ID:614936 +BMGC_DS14803,BMG_DS056028,"DEAFNESS, AUTOSOMAL RECESSIVE 84B",UMLS ID:C3554159,,,,,autosomal recessive nonsyndromic hearing loss 84B,MONDO:0013984,,,,,,OMIM ID:614925 | OMIM ID:614944 +BMGC_DS14804,BMG_DS056029,"DEAFNESS, AUTOSOMAL RECESSIVE 18B",UMLS ID:C3554163,,,,,autosomal recessive nonsyndromic hearing loss 18B,MONDO:0013985,,,,,,OMIM ID:614945 | OMIM ID:604487 +BMGC_DS14805,BMG_DS056030,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3",UMLS ID:C3554194,,,,,"congenital heart defects, multiple types, 3",MONDO:0013988,,,,,,OMIM ID:614954 +BMGC_DS14806,BMG_DS056031,,UMLS ID:C3554195,,,,,"developmental and epileptic encephalopathy, 14",MONDO:0013989,,,,,,OMIM ID:614959 +BMGC_DS14807,BMG_DS056032,Congenital pontocerebellar hypoplasia type 8,UMLS ID:C3554209,Congenital pontocerebellar hypoplasia type 8 (disorder) | Congenital pontocerebellar hypoplasia type 8 | PCH8 - pontocerebellar hypoplasia type 8 | Pontocerebellar hypoplasia type 8 | Pontocerebellar hypoplasia due to CHMP1A (charged multivesicular body protein 1A) mutation,SNOMEDCT ID:718611007,,,pontocerebellar hypoplasia type 8,MONDO:0013990,,,,,,OMIM ID:614961 +BMGC_DS14808,BMG_DS056033,LEPTIN DEFICIENCY OR DYSFUNCTION,UMLS ID:C3554224,,,,,obesity due to congenital leptin deficiency,MONDO:0013991,,,congenital leptin deficiency,DOID:0111334,,OMIM ID:614962 +BMGC_DS14809,BMG_DS056034,LEPTIN RECEPTOR DEFICIENCY,UMLS ID:C3554225,,,,,obesity due to leptin receptor gene deficiency,MONDO:0013992,,,,,,OMIM ID:614963 | OMIM ID:601007 +BMGC_DS14810,BMG_DS056035,Congenital pontocerebellar hypoplasia type 7,UMLS ID:C3554226,Congenital pontocerebellar hypoplasia type 7 (disorder) | Congenital pontocerebellar hypoplasia type 7 | PCH7 - pontocerebellar hypoplasia type 7 | Pontocerebellar hypoplasia type 7,SNOMEDCT ID:718605009,,,pontocerebellar hypoplasia type 7,MONDO:0013993,,,,,,OMIM ID:614969 +BMGC_DS14811,BMG_DS056036,JOUBERT SYNDROME 20,UMLS ID:C3554235,,,,,Joubert syndrome 20,MONDO:0013994,,,Joubert syndrome 20,DOID:0110989,,OMIM ID:614970 | OMIM ID:614949 +BMGC_DS14812,BMG_DS056037,"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3",UMLS ID:C3554241,,,,,"cholestasis, intrahepatic, of pregnancy, 3",MONDO:0013995,,,intrahepatic cholestasis of pregnancy 3,DOID:0070229,,OMIM ID:614972 +BMGC_DS14813,BMG_DS056038,Focal Facial Dermal Dysplasia 2,UMLS ID:C3554245,,,,,focal facial dermal dysplasia type II,MONDO:0013996,Focal Facial Dermal Dysplasias,MeSH ID:D000090303,,,,OMIM ID:614973 +BMGC_DS14814,BMG_DS056039,Focal Facial Dermal Dysplasia 4,UMLS ID:C3554246,,,,,focal facial dermal dysplasia type IV,MONDO:0013997,Focal Facial Dermal Dysplasias,MeSH ID:D000090303,,,,OMIM ID:614974 +BMGC_DS14815,BMG_DS056040,CARPENTER SYNDROME 2,UMLS ID:C3554247,,,,,MEGF8-related Carpenter syndrome,MONDO:0013998,,,,,,OMIM ID:604267 | OMIM ID:614976 +BMGC_DS14816,BMG_DS056041,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2",UMLS ID:C3554279,,,,,"congenital heart defects, multiple types, 2",MONDO:0014000,,,,,,OMIM ID:614980 +BMGC_DS14817,BMG_DS056042,"EPILEPSY, NOCTURNAL FRONTAL LOBE, 5",UMLS ID:C3554306,,,,,autosomal dominant nocturnal frontal lobe epilepsy 5,MONDO:0014002,,,autosomal dominant nocturnal frontal lobe epilepsy 5,DOID:0060686,,OMIM ID:608167 | OMIM ID:615005 +BMGC_DS14818,BMG_DS056043,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15,UMLS ID:C3554316,,,,,"developmental and epileptic encephalopathy, 15",MONDO:0014003,,,developmental and epileptic encephalopathy 15,DOID:0080414,,OMIM ID:606494 | OMIM ID:615006 +BMGC_DS14819,BMG_DS056044,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4",UMLS ID:C3554321,,,,,"basal ganglia calcification, idiopathic, 4",MONDO:0014004,,,,,,OMIM ID:615007 | OMIM ID:173410 +BMGC_DS14820,BMG_DS056045,"NEPHROTIC SYNDROME, TYPE 7",UMLS ID:C3554330,,,,,immunoglobulin-mediated membranoproliferative glomerulonephritis,MONDO:0014005,,,nephrotic syndrome type 7,DOID:0080388,,OMIM ID:615008 | OMIM ID:601440 +BMGC_DS14821,BMG_DS056046,,UMLS ID:C3554343,,,,,Schuurs-Hoeijmakers syndrome,MONDO:0014006,,,,,,OMIM ID:615009 +BMGC_DS14822,BMG_DS056047,,UMLS ID:C3554344,,,,,phosphohydroxylysinuria,MONDO:0014008,,,,,,OMIM ID:615011 +BMGC_DS14823,BMG_DS056048,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 7",UMLS ID:C3554348,,,,,autosomal recessive congenital ichthyosis 7,MONDO:0014009,,,,,,OMIM ID:615022 +BMGC_DS14824,BMG_DS056049,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9",UMLS ID:C3554349,,,,,autosomal recessive congenital ichthyosis 9,MONDO:0014010,,,,,,OMIM ID:615276 | OMIM ID:615023 +BMGC_DS14825,BMG_DS056050,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10",UMLS ID:C3554355,,,,,autosomal recessive congenital ichthyosis 10,MONDO:0014011,,,,,,OMIM ID:615024 | OMIM ID:612121 +BMGC_DS14826,BMG_DS056051,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q",UMLS ID:C3554366,,,,,Charcot-Marie-Tooth disease axonal type 2Q,MONDO:0014012,,,,,,OMIM ID:615025 | OMIM ID:614984 +BMGC_DS14827,BMG_DS056052,"EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE",UMLS ID:C3554367,,,,,"epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive",MONDO:0014014,,,,,,OMIM ID:615028 | OMIM ID:612878 +BMGC_DS14828,BMG_DS056053,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY,UMLS ID:C3554373,,,,,intellectual developmental disorder with autism and macrocephaly,MONDO:0014017,,,,,,OMIM ID:615032 | OMIM ID:610528 +BMGC_DS14829,BMG_DS056054,Cranio-cervical dystonia with laryngeal and upper limb involvement,UMLS ID:C3554374,Dystonia 24 | Cranio-cervical dystonia with laryngeal and upper limb involvement | DYT24 - dystonia 24 | Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder),SNOMEDCT ID:783179009,,,dystonia 24,MONDO:0014019,,,,,,OMIM ID:615034 +BMGC_DS14830,BMG_DS056055,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10",UMLS ID:C3554381,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10",MONDO:0014022,,,congenital muscular dystrophy-dystroglycanopathy type A10,DOID:0111239,,OMIM ID:605862 | OMIM ID:615041 +BMGC_DS14831,BMG_DS056056,"SPINAL MUSCULAR ATROPHY, JOKELA TYPE",UMLS ID:C3554398,,,,,lower motor neuron syndrome with late-adult onset,MONDO:0014025,,,"spinal muscular atrophy, Jokela type",DOID:0081356,,OMIM ID:615048 | OMIM ID:615903 +BMGC_DS14832,BMG_DS056057,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F",UMLS ID:C3554399,,,,,congenital stationary night blindness 1F,MONDO:0014026,,,congenital stationary night blindness 1F,DOID:0110864,,OMIM ID:615004 | OMIM ID:615058 +BMGC_DS14833,BMG_DS056058,HYPOTRICHOSIS 11,UMLS ID:C3554409,,,,,hypotrichosis 11,MONDO:0014027,,,hypotrichosis 11,DOID:0110708,,OMIM ID:128260 | OMIM ID:615059 +BMGC_DS14834,BMG_DS056059,Distal arthrogryposis type 5D,UMLS ID:C3554415,Distal arthrogryposis type 5D (disorder) | Distal arthrogryposis type 5D | Distal arthrogryposis type 5 without ophthalmoparesis | Distal arthrogryposis type 5 without ophthalmoplegia | DA5D - distal arthrogryposis type 5D,SNOMEDCT ID:773396009,,,distal arthrogryposis type 5D,MONDO:0014028,,,,,,OMIM ID:615065 +BMGC_DS14835,BMG_DS056060,"OSTEOGENESIS IMPERFECTA, TYPE XIV",UMLS ID:C3554428,,,,,osteogenesis imperfecta type 14,MONDO:0014029,,,,,,OMIM ID:611236 | OMIM ID:615066 +BMGC_DS14836,BMG_DS056061,Microcephalic primordial dwarfism Alazami type,UMLS ID:C3554439,Microcephalic primordial dwarfism Alazami type (disorder) | Microcephalic primordial dwarfism Alazami type | Alazami syndrome,SNOMEDCT ID:770564004,,,"microcephalic primordial dwarfism, Alazami type",MONDO:0014031,,,,,,OMIM ID:615071 +BMGC_DS14837,BMG_DS056062,"BRACHYDACTYLY, TYPE A1, C",UMLS ID:C3554446,,,,,brachydactyly type A1C,MONDO:0014032,,,brachydactyly type A1C,DOID:0110977,,OMIM ID:601146 | OMIM ID:615072 +BMGC_DS14838,BMG_DS056063,GAND SYNDROME,UMLS ID:C3554448,,,,,severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,MONDO:0014034,,,GAND syndrome,DOID:0070048,,OMIM ID:615074 | OMIM ID:614998 +BMGC_DS14839,BMG_DS056064,NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS,UMLS ID:C3554449,,,,,severe intellectual disability-progressive spastic diplegia syndrome,MONDO:0014035,,,autosomal dominant intellectual developmental disorder 19,DOID:0070049,,OMIM ID:615075 | OMIM ID:116806 +BMGC_DS14840,BMG_DS056065,ALZHEIMER DISEASE 17,UMLS ID:C3554452,,,,,Alzheimer disease 17,MONDO:0014036,,,Alzheimer's disease 17,DOID:0110049,,OMIM ID:615080 +BMGC_DS14841,BMG_DS056066,SPERMATOGENIC FAILURE 11,UMLS ID:C3554453,,,,,spermatogenic failure 11,MONDO:0014037,,,spermatogenic failure 11,DOID:0070180,,OMIM ID:608778 | OMIM ID:615081 +BMGC_DS14842,BMG_DS056067,,UMLS ID:C3554460,,,,,"colorectal cancer, susceptibility to, 12",MONDO:0014038,,,,,,OMIM ID:615083 +BMGC_DS14843,BMG_DS056068,MITOCHONDRIAL DNA DEPLETION SYNDROME 11,UMLS ID:C3554462,,,,,mitochondrial DNA depletion syndrome 11,MONDO:0014039,,,mitochondrial DNA depletion syndrome 11,DOID:0080129,,OMIM ID:615076 | OMIM ID:615084 +BMGC_DS14844,BMG_DS056069,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8",UMLS ID:C3554478,,,,,autosomal recessive osteopetrosis 8,MONDO:0014040,,,autosomal recessive osteopetrosis 8,DOID:0110940,,OMIM ID:615085 | OMIM ID:614780 +BMGC_DS14845,BMG_DS056070,,UMLS ID:C3554495,,,,,"autism, susceptibility to, 19",MONDO:0014041,,,,,,OMIM ID:615091 +BMGC_DS14846,BMG_DS056071,LEFT VENTRICULAR NONCOMPACTION 7,UMLS ID:C3554496,,,,,left ventricular noncompaction 7,MONDO:0014042,,,,,,OMIM ID:608677 | OMIM ID:615092 +BMGC_DS14847,BMG_DS056072,"MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C3554499,,,,,microcephalic primordial dwarfism due to ZNF335 deficiency,MONDO:0014043,,,primary autosomal recessive microcephaly 10,DOID:0070294,,OMIM ID:610827 | OMIM ID:615095 +BMGC_DS14848,BMG_DS056073,COWDEN SYNDROME 4,UMLS ID:C3554517,,,,,Cowden syndrome 4,MONDO:0014046,,,Cowden syndrome 4,DOID:0081000,,OMIM ID:612105 | OMIM ID:615107 +BMGC_DS14849,BMG_DS056074,COWDEN SYNDROME 5,UMLS ID:C3554518,,,,,Cowden syndrome 5,MONDO:0014047,,,Cowden syndrome 5,DOID:0081001,,OMIM ID:171834 | OMIM ID:615108 +BMGC_DS14850,BMG_DS056075,COWDEN SYNDROME 6,UMLS ID:C3554519,,,,,Cowden syndrome 6,MONDO:0014048,,,Cowden syndrome 6,DOID:0081002,,OMIM ID:164730 | OMIM ID:615109 +BMGC_DS14851,BMG_DS056076,UROFACIAL SYNDROME 2,UMLS ID:C3554520,,,,,urofacial syndrome 2,MONDO:0014049,,,,,,OMIM ID:608869 | OMIM ID:615112 +BMGC_DS14852,BMG_DS056077,"MICROPHTHALMIA, ISOLATED 8",UMLS ID:C3554524,,,,,isolated microphthalmia 8,MONDO:0014050,,,,,,OMIM ID:615113 | OMIM ID:600463 +BMGC_DS14853,BMG_DS056078,"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2",UMLS ID:C3554534,,,,,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2",MONDO:0014051,,,mitochondrial complex IV deficiency nuclear type 6,DOID:0080358,,OMIM ID:615119 +BMGC_DS14854,BMG_DS056079,LYMPHOPROLIFERATIVE SYNDROME 2,UMLS ID:C3554540,,,,,lymphoproliferative syndrome 2,MONDO:0014054,,,,,,OMIM ID:615122 | OMIM ID:186711 +BMGC_DS14855,BMG_DS056080,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4",UMLS ID:C3554560,,,,,"epilepsy, familial adult myoclonic, 4",MONDO:0014055,,,familial adult myoclonic epilepsy 4,DOID:0111693,,OMIM ID:615127 | OMIM ID:613373 +BMGC_DS14856,BMG_DS056082,,UMLS ID:C3554574,,,,,"melanoma, cutaneous malignant, susceptibility to, 9",MONDO:0014056,,,,,,OMIM ID:615134 +BMGC_DS14857,BMG_DS056083,"MAPLE SYRUP URINE DISEASE, MILD VARIANT",UMLS ID:C3554575,,,,,"maple syrup urine disease, mild variant",MONDO:0014057,,,,,,OMIM ID:615135 | OMIM ID:611065 +BMGC_DS14858,BMG_DS056084,"FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE",UMLS ID:C3554576,,,,,facial dysmorphism-immunodeficiency-livedo-short stature syndrome,MONDO:0014058,,,,,,OMIM ID:174762 | OMIM ID:615139 +BMGC_DS14859,BMG_DS056086,MICROPHTHALMIA/COLOBOMA 9,UMLS ID:C3554592,,,,,"microphthalmia, isolated, with coloboma 9",MONDO:0014059,,,,,,OMIM ID:610083 | OMIM ID:615145 +BMGC_DS14860,BMG_DS056087,"RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",UMLS ID:C3554593,,,,,progressive retinal dystrophy due to retinol transport defect,MONDO:0014060,,,,,,OMIM ID:615147 | OMIM ID:180250 +BMGC_DS14861,BMG_DS056088,Steel syndrome,UMLS ID:C3554594,"Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome | Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) | Steel syndrome",SNOMEDCT ID:1197589000,,,Steel syndrome,MONDO:0014061,,,,,,OMIM ID:615155 +BMGC_DS14862,BMG_DS056089,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6",UMLS ID:C3554599,,,,,mitochondrial DNA deletion syndrome with progressive myopathy,MONDO:0014062,,,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6,DOID:0111519,,OMIM ID:601810 | OMIM ID:615156 +BMGC_DS14863,BMG_DS056091,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2",UMLS ID:C3554605,,,,,mitochondrial complex III deficiency nuclear type 2,MONDO:0014063,,,mitochondrial complex III deficiency nuclear type 2,DOID:0060351,,OMIM ID:613814 | OMIM ID:615157 +BMGC_DS14864,BMG_DS056092,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3",UMLS ID:C3554606,,,,,mitochondrial complex III deficiency nuclear type 3,MONDO:0014064,,,mitochondrial complex III deficiency nuclear type 3,DOID:0080112,,OMIM ID:191330 | OMIM ID:615158 +BMGC_DS14865,BMG_DS056093,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4",UMLS ID:C3554607,,,,,mitochondrial complex III deficiency nuclear type 4,MONDO:0014065,,,mitochondrial complex III deficiency nuclear type 4,DOID:0080113,,OMIM ID:612080 | OMIM ID:615159 +BMGC_DS14866,BMG_DS056094,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5",UMLS ID:C3554608,,,,,mitochondrial complex III deficiency nuclear type 5,MONDO:0014066,,,mitochondrial complex III deficiency nuclear type 5,DOID:0080114,,OMIM ID:191329 | OMIM ID:615160 +BMGC_DS14867,BMG_DS056095,,UMLS ID:C3554609,,,,,short ulna-dysmorphism-hypotonia-intellectual disability syndrome,MONDO:0014067,,,,,,OMIM ID:615162 +BMGC_DS14868,BMG_DS056096,CONE-ROD DYSTROPHY 17,UMLS ID:C3554610,,,,,cone-rod dystrophy 17,MONDO:0014068,,,cone-rod dystrophy 17,DOID:0111023,,OMIM ID:615163 +BMGC_DS14869,BMG_DS056097,"Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome",UMLS ID:C3554611,"Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) | Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome | Wahab syndrome | Synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome",SNOMEDCT ID:783553008,,,syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,MONDO:0014069,,,,,,OMIM ID:615170 +BMGC_DS14870,BMG_DS056098,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11",UMLS ID:C3554638,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11",MONDO:0014071,,,congenital muscular dystrophy-dystroglycanopathy type A11,DOID:0111230,,OMIM ID:615181 | OMIM ID:610194 +BMGC_DS14871,BMG_DS056099,"CARDIOMYOPATHY, DILATED, 1II",UMLS ID:C3554649,,,,,dilated cardiomyopathy 1II,MONDO:0014073,,,,,,OMIM ID:615184 | OMIM ID:123590 +BMGC_DS14872,BMG_DS056100,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5",UMLS ID:C3554656,,,,,"dyskeratosis congenita, autosomal recessive 5",MONDO:0014076,,,autosomal recessive dyskeratosis congenita 5,DOID:0070022,,OMIM ID:615190 | OMIM ID:608833 +BMGC_DS14873,BMG_DS056101,LISSENCEPHALY 5,UMLS ID:C3554657,,,,,cobblestone lissencephaly without muscular or ocular involvement,MONDO:0014077,,,lissencephaly 5,DOID:0112230,,OMIM ID:615191 | OMIM ID:150240 +BMGC_DS14874,BMG_DS056102,"BLEEDING DISORDER, PLATELET-TYPE, 15",UMLS ID:C3554663,,,,,platelet-type bleeding disorder 15,MONDO:0014078,,,platelet-type bleeding disorder 15,DOID:0111053,,OMIM ID:615193 | OMIM ID:102575 +BMGC_DS14875,BMG_DS056104,Osteosclerotic metaphyseal dysplasia,UMLS ID:C3554665,Osteosclerotic metaphyseal dysplasia | Osteosclerotic metaphyseal dysplasia (disorder),SNOMEDCT ID:1237513008,,,osteosclerotic metaphyseal dysplasia,MONDO:0014080,,,,,,OMIM ID:615198 +BMGC_DS14876,BMG_DS056105,IMMUNODEFICIENCY 11,UMLS ID:C3554686,,,,,severe combined immunodeficiency due to CARD11 deficiency,MONDO:0014081,,,immunodeficiency 11A,DOID:0111957,,OMIM ID:615206 +BMGC_DS14877,BMG_DS056106,IMMUNODEFICIENCY 56,UMLS ID:C3554687,,,,,cryptosporidiosis-chronic cholangitis-liver disease syndrome,MONDO:0014082,,,immunodeficiency 56,DOID:0111982,,OMIM ID:615207 | OMIM ID:605383 +BMGC_DS14878,BMG_DS056107,"AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE",UMLS ID:C3554689,,,,,"agammaglobulinemia 7, autosomal recessive",MONDO:0014083,,,agammaglobulinemia 7,DOID:0081139,,OMIM ID:615214 | OMIM ID:171833 +BMGC_DS14879,BMG_DS056108,ATAXIA-OCULOMOTOR APRAXIA 3,UMLS ID:C3554690,,,,,ataxia with oculomotor apraxia type 3,MONDO:0014084,,,ataxia with oculomotor apraxia type 3,DOID:0060557,,OMIM ID:615217 | OMIM ID:611317 +BMGC_DS14880,BMG_DS056109,"HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES",UMLS ID:C3554691,,,,,"hydrocephalus, nonsyndromic, autosomal recessive 2",MONDO:0014085,,,,,,OMIM ID:615219 +BMGC_DS14881,BMG_DS056111,"Facial dysmorphism, conductive hearing loss, heart defect syndrome",UMLS ID:C3554774,"Facial dysmorphism, conductive hearing loss, heart defect syndrome | Tyshchenko syndrome | Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) | Dysmorphism, conductive hearing loss, heart defect syndrome",SNOMEDCT ID:763279007,,,dysmorphism-conductive hearing loss-heart defect syndrome,MONDO:0014044,,,,,,OMIM ID:615102 +BMGC_DS14882,BMG_DS056113,,UMLS ID:C3640086,,,,,complete atrioventricular canal-tetralogy of fallot syndrome,MONDO:0020408,,,,,, +BMGC_DS14883,BMG_DS056116,,UMLS ID:C3642318,,,,,,,,,posteroinferior myocardial infarction,DOID:5843,, +BMGC_DS14884,BMG_DS056117,,UMLS ID:C3642319,,,,,apical myocardial infarction,MONDO:0003673,,,apical myocardial infarction,DOID:5848,, +BMGC_DS14885,BMG_DS056119,,UMLS ID:C3642326,,,,,endometrioid stromal sarcoma of the cervix,MONDO:0003030,,,cervical endometrial stromal sarcoma,DOID:4520,, +BMGC_DS14886,BMG_DS056120,,UMLS ID:C3642329,,,,,endometrioid stromal sarcoma of the vagina,MONDO:0003313,,,vaginal endometrial stromal sarcoma,DOID:5170,, +BMGC_DS14887,BMG_DS056122,,UMLS ID:C3642345,,,,,luminal A breast carcinoma,MONDO:0021116,,,luminal breast carcinoma A,DOID:0060548,, +BMGC_DS14888,BMG_DS056123,,UMLS ID:C3642346,,,,,luminal B breast carcinoma,MONDO:0021115,,,luminal breast carcinoma B,DOID:0080674,, +BMGC_DS14889,BMG_DS056125,,UMLS ID:C3642463,,,,,,,,,posterolateral myocardial infarction,DOID:5851,, +BMGC_DS14890,BMG_DS056127,,UMLS ID:C3642476,,,,,,,,,subendocardial myocardial infarction,DOID:5849,, +BMGC_DS14891,BMG_DS056128,Autosomal Recessive Centronuclear Myopathy,UMLS ID:C3645536,,,,,autosomal recessive centronuclear myopathy,MONDO:0015705,"Myopathies, Structural, Congenital",MeSH ID:D020914,,,, +BMGC_DS14892,BMG_DS056129,Congenital Osteopetrosis,UMLS ID:C3645711,,,,,,,Osteopetrosis,MeSH ID:D010022,,,, +BMGC_DS14893,BMG_DS056153,Drug-Induced Acute Liver Injury,UMLS ID:C3658290,,,,,,,Chemical and Drug Induced Liver Injury,MeSH ID:D056486,,,, +BMGC_DS14894,BMG_DS056154,Hereditary Antithrombin Deficiency,UMLS ID:C3658294,,,,,,,Antithrombin III Deficiency,MeSH ID:D020152,,,, +BMGC_DS14895,BMG_DS056155,Zellweger Spectrum,UMLS ID:C3658299,,,,,,,Zellweger Syndrome,MeSH ID:D015211,,,, +BMGC_DS14896,BMG_DS056156,Mycoplasma-Induced Stevens-Johnson Syndrome,UMLS ID:C3658301,,,,,,,Stevens-Johnson Syndrome,MeSH ID:D013262,,,, +BMGC_DS14897,BMG_DS056157,Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum,UMLS ID:C3658302,,,,,,,Stevens-Johnson Syndrome,MeSH ID:D013262,,,, +BMGC_DS14898,BMG_DS056164,Partial Fetal Alcohol Syndrome,UMLS ID:C3661483,,,,,partial fetal alcohol syndrome,MONDO:0000393,Fetal Alcohol Spectrum Disorders,MeSH ID:D063647,,,, +BMGC_DS14899,BMG_DS056165,Autosomal Dominant Myotubular Myopathy,UMLS ID:C3661489,,,,,,,"Myopathies, Structural, Congenital",MeSH ID:D020914,,,, +BMGC_DS14900,BMG_DS056166,Hereditary Motor Neuronopathy,UMLS ID:C3661519,,,,,,,"Muscular Atrophy, Spinal",MeSH ID:D009134,,,, +BMGC_DS14901,BMG_DS056167,Congenital Intestinal Aganglionosis,UMLS ID:C3661523,,,,,,,Hirschsprung Disease,MeSH ID:D006627,,,, +BMGC_DS14902,BMG_DS056168,Autosomal Recessive Chronic Granulomatous Disease,UMLS ID:C3661525,,,,,,,"Granulomatous Disease, Chronic",MeSH ID:D006105,,,, +BMGC_DS14903,BMG_DS056207,Perioperative hypertension,UMLS ID:C3661921,Perioperative hypertension | Perioperative hypertension (disorder),SNOMEDCT ID:434711000124103,,,,,,,,,, +BMGC_DS14904,BMG_DS056210,Dyslipidemia due to type 2 diabetes mellitus,UMLS ID:C3661933,Diabetic dyslipidemia associated with type 2 diabetes mellitus | Dyslipidemia associated with type II diabetes mellitus | Dyslipidemia due to type 2 diabetes mellitus (disorder) | Dyslipidemia due to type 2 diabetes mellitus,SNOMEDCT ID:761000119102,,,,,,,,,, +BMGC_DS14905,BMG_DS056232,Peroneal Nerve Entrapment,UMLS ID:C3661995,,,,,,,Peroneal Neuropathies,MeSH ID:D020427,,,, +BMGC_DS14906,BMG_DS056240,Radial Nerve Entrapment,UMLS ID:C3662011,,,,,,,Radial Neuropathy,MeSH ID:D020425,,,, +BMGC_DS14907,BMG_DS056250,Chronic kidney disease due to type 2 diabetes mellitus,UMLS ID:C3662038,Chronic renal impairment due to type II diabetes mellitus | Diabetic chronic renal impairment due to type 2 diabetes mellitus | Chronic kidney disease due to type 2 diabetes mellitus | Chronic renal impairment due to type 2 diabetes mellitus | Chronic kidney disease due to type 2 diabetes mellitus (disorder),SNOMEDCT ID:771000119108,,,,,,,,,, +BMGC_DS14908,BMG_DS056286,Dextran pseudoallergy,UMLS ID:C3662114,Dextran pseudoallergy | Pseudoallergy to dextran | Nonallergic hypersensitivity to dextran | Non-allergic hypersensitivity to dextran (finding) | Non-allergic hypersensitivity to dextran,SNOMEDCT ID:609536007,,,,,,,,,, +BMGC_DS14909,BMG_DS056363,Primary hypertrophic cardiomyopathy,UMLS ID:C3665332,Primary hypertrophic cardiomyopathy | Primary hypertrophic cardiomyopathy (disorder) | Hypertrophic cardiomyopathy | HCM - Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy (disorder) | Primary hypertrophic cardiomyopathy (disorder) | Primary hypertrophic cardiomyopathy,SNOMEDCT ID:15471000 | SNOMEDCT ID:233873004 | SNOMEDCT ID:700065003,,,,,,,,,, +BMGC_DS14910,BMG_DS056364,Keratitis-Ichthyosis-Deafness Syndrome,UMLS ID:C3665333,,,,,KID syndrome,MONDO:0018781,,MeSH ID:C580224,,,, +BMGC_DS14911,BMG_DS056367,Progressive Cone Dystrophy,UMLS ID:C3665342,,,,,,,Cone Dystrophy,MeSH ID:D000077765,cone dystrophy,DOID:0050795,, +BMGC_DS14912,BMG_DS056368,Secondary hypothyroidism,UMLS ID:C3665349,Secondary hypothyroidism | Pituitary hypothyroidism | Hypothyrotropic hypothyroidism | Secondary hypothyroidism (disorder) | TSH (thyroid stimulating hormone) deficiency,SNOMEDCT ID:82598004,,,,,,,,,, +BMGC_DS14913,BMG_DS056369,Galactorrhea,UMLS ID:C3665358,Galactorrhoea | Galactorrhea | Galactorrhoea (disorder),SNOMEDCT ID:155965001,,,galactorrhea,MONDO:0009256,Galactorrhea,MeSH ID:D005687,,,, +BMGC_DS14914,BMG_DS056370,"Arteriosclerotic cardiovascular disease, NOS",UMLS ID:C3665365,Arteriosclerotic cardiovascular disease | Cardiovascular arteriosclerosis | ASCVD | Cardiovascular degeneration with arteriosclerosis | Cardiovascular disease with arteriosclerosis | Cardiovascular sclerosis with arteriosclerosis | Arteriosclerotic cardiovascular disease (disorder),SNOMEDCT ID:39468009,,,,,,,arteriosclerotic cardiovascular disease,DOID:2348,, +BMGC_DS14915,BMG_DS056372,"2,8-Dihydroxyadenine Urolithiasis",UMLS ID:C3665382,,,,,,,,MeSH ID:C538228,adenine phosphoribosyltransferase deficiency,DOID:0060350,, +BMGC_DS14916,BMG_DS056375,Hemoglobin M Disease,UMLS ID:C3665425,,,,,hemoglobin M disease,MONDO:0018023,,MeSH ID:C581942,,,,OMIM ID:617971 +BMGC_DS14917,BMG_DS056382,Familial Osteochondritis Dissecans,UMLS ID:C3665488,,,,,"short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans",MONDO:0100462,,MeSH ID:C580095,,,,OMIM ID:165800 +BMGC_DS14918,BMG_DS056387,Warts,UMLS ID:C3665596,,,,,common wart,MONDO:0001209,Warts,MeSH ID:D014860,,,,OMIM ID:MTHU062503 +BMGC_DS14919,BMG_DS056391,,UMLS ID:C3665670,,,,,uveal cancer,MONDO:0002659,,,uveal cancer,DOID:3479,, +BMGC_DS14920,BMG_DS056392,Chronic familial neutropenia (disorder),UMLS ID:C3665676,Chronic familial neutropaenia | Benign familial neutropaenia | Chronic familial neutropenia (disorder) | Benign familial neutropenia | Chronic familial neutropenia,SNOMEDCT ID:234576008,,,"neutropenia, chronic familial",MONDO:0008089,,,,,,OMIM ID:162700 +BMGC_DS14921,BMG_DS056393,Congenital reticular ichthyosiform erythroderma,UMLS ID:C3665704,Congenital reticular ichthyosiform erythroderma (disorder) | Congenital reticular ichthyosiform erythroderma | Ichthyosis with confetti | Ichthyosis variegata | CRIE - Congenital reticular ichthyosiform erythroderma,SNOMEDCT ID:703504006,,,congenital reticular ichthyosiform erythroderma,MONDO:0012208,,,,,,OMIM ID:609165 +BMGC_DS14922,BMG_DS056401,"Luteinizing Hormone Resistance, Female",UMLS ID:C3668935,,,,,,,,MeSH ID:C562567,Leydig cell hypoplasia,DOID:0112259,, +BMGC_DS14923,BMG_DS056402,Dmd-Associated Dilated Cardiomyopathy,UMLS ID:C3668940,,,,,dilated cardiomyopathy 3B,MONDO:0010542,,MeSH ID:C580047,X-linked dilated cardiomyopathy,DOID:0110461,,OMIM ID:302045 +BMGC_DS14924,BMG_DS056403,,UMLS ID:C3668942,,,,,atelosteogenesis type III,MONDO:0007168,,,,,,OMIM ID:108721 +BMGC_DS14925,BMG_DS056404,Fatty Acid Hydroxylase-Associated Neurodegeneration,UMLS ID:C3668943,,,,,fatty acid hydroxylase-associated neurodegeneration,MONDO:0017999,,MeSH ID:C580102,,,, +BMGC_DS14926,BMG_DS056406,11-Beta-hydroxylase deficiency,UMLS ID:C3669121,,,,,,,,MeSH ID:C535978,,,, +BMGC_DS14927,BMG_DS056407,5-Alpha Reductase Deficiency,UMLS ID:C3669122,,,,,,,,MeSH ID:C535830,,,, +BMGC_DS14928,BMG_DS056411,X-Linked Chondrodysplasia Punctata 1,UMLS ID:C3669395,,,,,X-linked chondrodysplasia punctata 1,MONDO:0010555,,MeSH ID:C580533,X-linked chondrodysplasia punctata 1,DOID:0060292,,OMIM ID:302950 +BMGC_DS14929,BMG_DS056421,Cyclic Hematopoesis,UMLS ID:C3671688,,,,,,,,MeSH ID:C536227,,,, +BMGC_DS14930,BMG_DS056424,Autosomal Recessive Cerebellar Ataxia Type 1,UMLS ID:C3683483,,,,,,,,MeSH ID:C579934,,,, +BMGC_DS14931,BMG_DS056429,,UMLS ID:C3693482,,,,,dermatofibrosarcoma protuberans,MONDO:0011934,,,,,,OMIM ID:607907 +BMGC_DS14932,BMG_DS056431,Middle East Respiratory Syndrome,UMLS ID:C3694279,,,,,Coronavinae infectious disease | Middle East respiratory syndrome,MONDO:0100116;MONDO:0005719,Coronavirus Infections,MeSH ID:D018352,,,, +BMGC_DS14933,BMG_DS056432,GLYCOGEN STORAGE DISEASE IXa1,UMLS ID:C3694531,,,,,glycogen storage disease IXa1,MONDO:0010598,,,,,,OMIM ID:306000 +BMGC_DS14934,BMG_DS056436,Charcot-Marie-Tooth disease type 4B3,UMLS ID:C3695063,Charcot-Marie-Tooth disease type 4B3 | Charcot-Marie-Tooth disease with focally folded myelin | Charcot-Marie-Tooth disease type 4B3 (disorder),SNOMEDCT ID:763345008,,,Charcot-Marie-Tooth disease type 4B3,MONDO:0014117,,,,,,OMIM ID:615284 +BMGC_DS14935,BMG_DS056440,3-Methylglutaconic Aciduria,UMLS ID:C3696376,,,,,3-methylglutaconic aciduria,MONDO:0017359,,MeSH ID:C579867,3-methylglutaconic aciduria,DOID:0060336,, +BMGC_DS14936,BMG_DS056480,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,UMLS ID:C3696898,,,,,autosomal dominant nocturnal frontal lobe epilepsy,MONDO:0020300,,MeSH ID:C579932,autosomal dominant nocturnal frontal lobe epilepsy,DOID:0060681,, +BMGC_DS14937,BMG_DS056495,Ulcerative colitis in remission,UMLS ID:C3697010,Ulcerative colitis in remission | Ulcerative colitis in remission (disorder),SNOMEDCT ID:697969008,,,,,,,,,, +BMGC_DS14938,BMG_DS056499,Acute exacerbation of chronic congestive heart failure,UMLS ID:C3697063,Acute exacerbation of chronic congestive heart failure | Acute exacerbation of chronic congestive heart failure (disorder) | Acute on chronic congestive heart failure,SNOMEDCT ID:698296002,,,,,,,,,, +BMGC_DS14939,BMG_DS056505,Pulmonary arterial hypertension associated with congenital heart disease,UMLS ID:C3697119,Pulmonary arterial hypertension associated with congenital heart disease | Pulmonary arterial hypertension associated with congenital heart disease (disorder),SNOMEDCT ID:697905000,,,,,,,,,, +BMGC_DS14940,BMG_DS056557,Non-specific intraventricular conduction delay,UMLS ID:C3697597,Non-specific intraventricular conduction delay | Non-specific intraventricular conduction defect | Non-specific intraventricular conduction delay (disorder) | Nonspecific intraventricular conduction disorder,SNOMEDCT ID:698252002,,,,,,,,,, +BMGC_DS14941,BMG_DS056670,Anti-D isoimmunization affecting pregnancy,UMLS ID:C3698348,Anti-D isoimmunisation affecting pregnancy | Anti-D isoimmunization affecting pregnancy (disorder) | Anti-D isoimmunization affecting pregnancy,SNOMEDCT ID:699950009,,,,,,,,,, +BMGC_DS14942,BMG_DS056671,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,UMLS ID:C3698354,Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (disorder) | Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis | Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,SNOMEDCT ID:697909006,,,pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,MONDO:0018554,,,,,, +BMGC_DS14943,BMG_DS056708,,UMLS ID:C3698507,,,,,,,,,porencephaly,DOID:0060263,, +BMGC_DS14944,BMG_DS056715,"Ohdo syndrome, Maat-Kievit-Brunner type",UMLS ID:C3698541,"Ohdo syndrome, Maat-Kievit-Brunner type | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type | X-linked Ohdo syndrome | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) | Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type",SNOMEDCT ID:699297004,,,"blepharophimosis - intellectual disability syndrome, MKB type",MONDO:0010477,,,,,,OMIM ID:300895 +BMGC_DS14945,BMG_DS056721,Cap Myopathy,UMLS ID:C3710589,,,,,cap myopathy,MONDO:0015753,,MeSH ID:C579969,,,, +BMGC_DS14946,BMG_DS056723,Mitochondrial DNA Depletion Syndrome 8A,UMLS ID:C3711125,,,,,,,,MeSH ID:C536350,mitochondrial DNA depletion syndrome 8b | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 1,DOID:0080127;DOID:0070331;DOID:0080119,, +BMGC_DS14947,BMG_DS056725,Metatropic Dysplasia Type 1,UMLS ID:C3711162,,,,,,,,MeSH ID:C537356,,,, +BMGC_DS14948,BMG_DS056726,Surfactant Dysfunction,UMLS ID:C3711368,,,,,hereditary pulmonary alveolar proteinosis,MONDO:0012580,,MeSH ID:C580477,,,, +BMGC_DS14949,BMG_DS056727,Succinate-Coa Ligase Deficiency,UMLS ID:C3711369,,,,,,,,MeSH ID:C580473,mitochondrial DNA depletion syndrome 9,DOID:0080128,, +BMGC_DS14950,BMG_DS056728,Spastic Paraplegia Type 7,UMLS ID:C3711370,,,,,,,,MeSH ID:C580457,,,, +BMGC_DS14951,BMG_DS056730,Nonsyndromic Deafness,UMLS ID:C3711374,,,,,,,,MeSH ID:C580334,nonsyndromic deafness,DOID:0050563,, +BMGC_DS14952,BMG_DS056731,Isodicentric Chromosome 15 Syndrome,UMLS ID:C3711376,,,,,duplication/inversion 15q11,MONDO:0018027,,MeSH ID:C580205,,,, +BMGC_DS14953,BMG_DS056732,Intranuclear Rod Myopathy,UMLS ID:C3711377,,,,,,,,MeSH ID:C580202,,,, +BMGC_DS14954,BMG_DS056734,Huntington Disease-Like Syndrome,UMLS ID:C3711380,,,,,Huntington disease-like syndrome,MONDO:0015548,,MeSH ID:C580174,,,, +BMGC_DS14955,BMG_DS056735,Hereditary Diffuse Leukoencephalopathy with Spheroids,UMLS ID:C3711381,,,,,"leukoencephalopathy, hereditary diffuse, with spheroids",MONDO:0030796,,MeSH ID:C580150,,,, +BMGC_DS14956,BMG_DS056737,"Distal Hereditary Motor Neuropathy, Type II",UMLS ID:C3711384,,,,,distal hereditary motor neuropathy type 2,MONDO:0015352,,MeSH ID:C580044,autosomal dominant distal hereditary motor neuronopathy 2,DOID:0111206,, +BMGC_DS14957,BMG_DS056738,Deoxyguanosine Kinase Deficiency,UMLS ID:C3711385,,,,,"mitochondrial DNA depletion syndrome, hepatocerebral form",MONDO:0100512,,MeSH ID:C580039,mitochondrial DNA depletion syndrome 3,DOID:0080121,, +BMGC_DS14958,BMG_DS056740,Autosomal Recessive Primary Microcephaly,UMLS ID:C3711387,,,,,autosomal recessive primary microcephaly,MONDO:0016660,,MeSH ID:C579935,,,, +BMGC_DS14959,BMG_DS056742,Actin-Accumulation Myopathy,UMLS ID:C3711389,,,,,"congenital myopathy 2a, typical, autosomal dominant",MONDO:0008070,,MeSH ID:C579880,,,,OMIM ID:161800 +BMGC_DS14960,BMG_DS056743,9q22.3 Microdeletion,UMLS ID:C3711390,,,,,monosomy 9q22.3,MONDO:0019179,,MeSH ID:C579873,,,, +BMGC_DS14961,BMG_DS056745,"Hdl Deficiency, Type 2",UMLS ID:C3711531,,,,,,,,MeSH ID:C538394,,,, +BMGC_DS14962,BMG_DS056746,X-Linked Csnb,UMLS ID:C3711543,,,,,,,,MeSH ID:C536122,,,, +BMGC_DS14963,BMG_DS056750,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,UMLS ID:C3711645,Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | LCHADD - long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Mitochondrial trifunctional protein deficiency | Human trifunctional protein deficiency | Trifunctional protein deficiency | Trifunctional enzyme deficiency | Mitochondrial trifunctional protein deficiency (disorder),SNOMEDCT ID:726021008 | SNOMEDCT ID:237999008,,,long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,MONDO:0012173,,,,,,OMIM ID:609016 +BMGC_DS14964,BMG_DS056754,Familial Hyperaldosteronism,UMLS ID:C3713420,,,,,familial hyperaldosteronism,MONDO:0016525,,MeSH ID:C580087,,,, +BMGC_DS14965,BMG_DS056755,Childhood Myocerebrohepatopathy Spectrum,UMLS ID:C3713421,,,,,,,,MeSH ID:C579990,,,, +BMGC_DS14966,BMG_DS056757,"46,XY Disorder of Sex Development Due To LH Defects",UMLS ID:C3714042,,,,,,,,MeSH ID:C562567,Leydig cell hypoplasia,DOID:0112259,, +BMGC_DS14967,BMG_DS056758,Trisomy Xq28,UMLS ID:C3714043,Chromosome Xq28 trisomy (disorder) | Chromosome Xq28 trisomy | Trisomy Xq28,SNOMEDCT ID:719909009,,,,,,MeSH ID:C537723,,,, +BMGC_DS14968,BMG_DS056759,"Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",UMLS ID:C3714208,,,,,,,,MeSH ID:C562419,,,, +BMGC_DS14969,BMG_DS056760,"Trifunctional Protein Deficiency, Type 2",UMLS ID:C3714237,,,,,,,,MeSH ID:C566945,,,, +BMGC_DS14970,BMG_DS056761,Bmpr1a-Related Juvenile Polyposis,UMLS ID:C3714239,,,,,,,,MeSH ID:C537702,juvenile polyposis syndrome,DOID:0050787,, +BMGC_DS14971,BMG_DS056762,Smad4-Related Juvenile Polyposis,UMLS ID:C3714240,,,,,,,,MeSH ID:C537702,juvenile polyposis syndrome,DOID:0050787,, +BMGC_DS14972,BMG_DS056772,Meckel syndrome type 1,UMLS ID:C3714506,,,,,"Meckel syndrome, type 1",MONDO:0009571,,MeSH ID:C536133,,,,OMIM ID:249000 +BMGC_DS14973,BMG_DS056773,Nutrition Disorders,UMLS ID:C3714509,,,,,nutritional disorder,MONDO:0005137,Nutrition Disorders,MeSH ID:D009748,nutrition disease,DOID:374,, +BMGC_DS14974,BMG_DS056776,,UMLS ID:C3714524,,,,,myxofibrosarcoma,MONDO:0019202,,,,,, +BMGC_DS14975,BMG_DS056777,,UMLS ID:C3714534,,,,,Dowling-Degos disease,MONDO:0008371,,,Dowling-Degos disease,DOID:0060256,, +BMGC_DS14976,BMG_DS056779,,UMLS ID:C3714580,,,,,"hypokalemic periodic paralysis, type 1",MONDO:0042979,,,,,,OMIM ID:170400 +BMGC_DS14977,BMG_DS056780,Multicystic Dysplastic Kidney,UMLS ID:C3714581,,,,,multicystic dysplastic kidney,MONDO:0015988,Multicystic Dysplastic Kidney,MeSH ID:D021782,,,, +BMGC_DS14978,BMG_DS056783,Primary Hyperthyroidism,UMLS ID:C3714618,,,,,,,Hyperthyroidism,MeSH ID:D006980,hyperthyroidism,DOID:7998,, +BMGC_DS14979,BMG_DS056786,Pneumonitis,UMLS ID:C3714636,Pneumonitis | Pneumonitis (disorder),SNOMEDCT ID:205237003,,,pneumonitis,MONDO:0043905,Pneumonia,MeSH ID:D011014,,,,OMIM ID:MTHU065027 +BMGC_DS14980,BMG_DS056787,,UMLS ID:C3714644,,,,,thymus neoplasm,MONDO:0005197,,,,,, +BMGC_DS14981,BMG_DS056791,,UMLS ID:C3714739,,,,,mesothelial neoplasm,MONDO:0006856,,,,,, +BMGC_DS14982,BMG_DS056793,"RETINOSCHISIS 1, X-LINKED, JUVENILE",UMLS ID:C3714753,,,,,X-linked retinoschisis,MONDO:0010725,,,,,,OMIM ID:300839 | OMIM ID:312700 +BMGC_DS14983,BMG_DS056794,,UMLS ID:C3714756,,,,,intellectual disability,MONDO:0001071,,,,,, +BMGC_DS14984,BMG_DS056795,Juvenile rheumatoid arthritis,UMLS ID:C3714757,Juvenile rheumatoid arthritis | Juvenile rheumatoid arthritis (disorder) | Juvenile rheumatoid arthritis &/or Still's disease | Still's disease | Still's disease - juvenile R.A | Juvenile rheumatoid arthritis | Juvenile rheumatoid a. | Juvenile rheumatoid arthritis &/or Still's disease (disorder) | Juvenile rheumatoid arthritis &/or Still's disease | Juvenile rheumatoid arthritis | Still's disease | Juvenile rheumatoid a. | Still's disease - juvenile R.A | Juvenile rheumatoid arthritis &/or Still's disease (disorder) | Juvenile rheumatoid arthritis (disorder) | Juvenile rheumatoid arthritis | JRA - Juvenile rheumatoid arthritis | Polyarticular juvenile rheumatoid arthritis | Polyarticular juvenile rheumatoid arthritis (disorder) | Juvenile rheumatoid arthritis | Juvenile seropositive arthritis | JRA - Juvenile rheumatoid arthritis | Juvenile rheumatoid arthritis (disorder),SNOMEDCT ID:201808003 | SNOMEDCT ID:156483006 | SNOMEDCT ID:268052008 | SNOMEDCT ID:410795001 | SNOMEDCT ID:86119004 | SNOMEDCT ID:239801005,,,,,,,,,, +BMGC_DS14985,BMG_DS056796,Juvenile psoriatic arthritis,UMLS ID:C3714758,Juvenile psoriatic arthritis | Juvenile psoriatic arthritis (disorder),SNOMEDCT ID:239802003,,,psoriasis-related juvenile idiopathic arthritis,MONDO:0019436,,,,,, +BMGC_DS14986,BMG_DS056797,Drug-induced tardive dyskinesia,UMLS ID:C3714760,Tardive dyskinesia | Tardive dyskinesia (disorder) | Drug-induced tardive dyskinesia | TD - Tardive dyskinesia,SNOMEDCT ID:102449007,,,,,,,,,, +BMGC_DS14987,BMG_DS056799,"Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",UMLS ID:C3714844,,,,,,,Familial Primary Pulmonary Hypertension,MeSH ID:D065627,,,, +BMGC_DS14988,BMG_DS056800,"Axenfeld-Rieger Syndrome, Type 1",UMLS ID:C3714873,,,,,Axenfeld-Rieger syndrome type 1,MONDO:0008386,,MeSH ID:C535679,,,,OMIM ID:180500 +BMGC_DS14989,BMG_DS056801,SMITH-MCCORT DYSPLASIA 2,UMLS ID:C3714896,,,,,Smith-McCort dysplasia 2,MONDO:0014087,,,Smith-McCort dysplasia 2,DOID:0081271,,OMIM ID:605950 | OMIM ID:615222 +BMGC_DS14990,BMG_DS056802,"SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",UMLS ID:C3714897,,,,,hereditary spastic paraplegia 57,MONDO:0014295,,,,,,OMIM ID:602498 | OMIM ID:615658 +BMGC_DS14991,BMG_DS056803,"SYMPHALANGISM, PROXIMAL, 1A",UMLS ID:C3714899,,,,,proximal symphalangism 1A,MONDO:0020733,,,proximal symphalangism 1,DOID:0080787,,OMIM ID:602991 | OMIM ID:185800 +BMGC_DS14992,BMG_DS056804,,UMLS ID:C3714927,,,,,"multiple system atrophy 1, susceptibility to",MONDO:0020715,,,,,,OMIM ID:146500 +BMGC_DS14993,BMG_DS056805,MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY,UMLS ID:C3714933,,,,,myopathy due to myoadenylate deaminase deficiency,MONDO:0014220,,,,,,OMIM ID:102770 | OMIM ID:615511 +BMGC_DS14994,BMG_DS056806,"MYOPATHY, MYOFIBRILLAR, 3",UMLS ID:C3714934,,,,,myofibrillar myopathy 3,MONDO:0012215,,,,,,OMIM ID:604103 | OMIM ID:609200 | OMIM ID:182920 | OMIM ID:159000 | OMIM ID:609200 +BMGC_DS14995,BMG_DS056807,OTOFACIOCERVICAL SYNDROME 1,UMLS ID:C3714941,,,,,otofaciocervical syndrome 1,MONDO:0024532,,,,,,OMIM ID:166780 | OMIM ID:601653 +BMGC_DS14996,BMG_DS056808,OTOFACIOCERVICAL SYNDROME 2,UMLS ID:C3714942,,,,,,,,,,,,OMIM ID:167411 +BMGC_DS14997,BMG_DS056809,PACHYONYCHIA CONGENITA 3,UMLS ID:C3714948,,,,,pachyonychia congenita 3,MONDO:0014324,,,,,,OMIM ID:615726 | OMIM ID:148041 +BMGC_DS14998,BMG_DS056810,PACHYONYCHIA CONGENITA 4,UMLS ID:C3714949,,,,,pachyonychia congenita 4,MONDO:0014325,,,,,,OMIM ID:615728 | OMIM ID:148042 +BMGC_DS14999,BMG_DS056811,,UMLS ID:C3714958,,,,,"pulmonary hypertension, neonatal, susceptibility to",MONDO:0014151,,,,,,OMIM ID:615371 +BMGC_DS15000,BMG_DS056812,ACTIVATED PI3K-DELTA SYNDROME,UMLS ID:C3714976,,,,,immunodeficiency 14,MONDO:0014222,,,immunodeficiency 14,DOID:0111936,,OMIM ID:615513 +BMGC_DS15001,BMG_DS056813,BARDET-BIEDL SYNDROME 17,UMLS ID:C3714980,,,,,Bardet-Biedl syndrome 17,MONDO:0014445,,,,,,OMIM ID:615994 | OMIM ID:606568 +BMGC_DS15002,BMG_DS056814,"CANDIDIASIS, FAMILIAL, 8",UMLS ID:C3714992,,,,,"candidiasis, familial, 8",MONDO:0014230,,,,,,OMIM ID:615527 | OMIM ID:607043 +BMGC_DS15003,BMG_DS056815,"CARDIOMYOPATHY, DILATED, 1KK",UMLS ID:C3714995,,,,,dilated cardiomyopathy 1KK,MONDO:0014100,,,,,,OMIM ID:608517 | OMIM ID:615248 +BMGC_DS15004,BMG_DS056816,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22",UMLS ID:C3714998,,,,,,,,,,,,OMIM ID:608517 | OMIM ID:615248 +BMGC_DS15005,BMG_DS056817,"CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE)",UMLS ID:C3715049,,,,,neuronal ceroid lipofuscinosis 13,MONDO:0014147,,,,,,OMIM ID:615362 | OMIM ID:603539 +BMGC_DS15006,BMG_DS056818,CRANIOSYNOSTOSIS 3,UMLS ID:C3715051,,,,,TCF12-related craniosynostosis,MONDO:0014128,,,craniosynostosis 3,DOID:0061011,,OMIM ID:600480 | OMIM ID:615314 +BMGC_DS15007,BMG_DS056819,DEVELOPMENTAL DYSPLASIA OF THE HIP 2,UMLS ID:C3715079,,,,,developmental dysplasia of the hip 2,MONDO:0014277,,,developmental dysplasia of the hip 2,DOID:0060932,,OMIM ID:615612 +BMGC_DS15008,BMG_DS056820,"EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE",UMLS ID:C3715082,,,,,"epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive",MONDO:0010976,,,,,,OMIM ID:601001 +BMGC_DS15009,BMG_DS056821,"HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",UMLS ID:C3715128,,,,,Bartter syndrome with hypocalcemia,MONDO:0016983,,,autosomal dominant hypocalcemia 1,DOID:0090107,,OMIM ID:601199 | OMIM ID:601198 +BMGC_DS15010,BMG_DS056823,AMYOTROPHIC LATERAL SCLEROSIS 19,UMLS ID:C3715155,,,,,amyotrophic lateral sclerosis type 19,MONDO:0014223,,,amyotrophic lateral sclerosis type 19,DOID:0060210,,OMIM ID:600543 | OMIM ID:615515 +BMGC_DS15011,BMG_DS056824,AMYOTROPHIC LATERAL SCLEROSIS 20,UMLS ID:C3715156,,,,,amyotrophic lateral sclerosis type 20,MONDO:0014181,,,amyotrophic lateral sclerosis type 20,DOID:0060211,,OMIM ID:164017 | OMIM ID:615426 +BMGC_DS15012,BMG_DS056825,LEBER CONGENITAL AMAUROSIS 17,UMLS ID:C3715164,,,,,Leber congenital amaurosis 17,MONDO:0014145,,,,,,OMIM ID:601147 | OMIM ID:615360 +BMGC_DS15013,BMG_DS056826,LEFT VENTRICULAR NONCOMPACTION 10,UMLS ID:C3715165,,,,,left ventricular noncompaction 10,MONDO:0014163,,,dilated cardiomyopathy 1MM,DOID:0081158,,OMIM ID:615396 | OMIM ID:600958 +BMGC_DS15014,BMG_DS056827,,UMLS ID:C3715192,,,,,mandibular hypoplasia-deafness-progeroid syndrome,MONDO:0014157,,,,,,OMIM ID:615381 +BMGC_DS15015,BMG_DS056828,RENAL-HEPATIC-PANCREATIC DYSPLASIA 1,UMLS ID:C3715199,,,,,renal-hepatic-pancreatic dysplasia 1,MONDO:0008833,,,,,,OMIM ID:208540 | OMIM ID:608002 +BMGC_DS15016,BMG_DS056829,RETINITIS PIGMENTOSA 66,UMLS ID:C3715216,,,,,retinitis pigmentosa 66,MONDO:0014093,,,,,,OMIM ID:180290 | OMIM ID:615233 +BMGC_DS15017,BMG_DS056836,CATARACT 13 WITH ADULT i PHENOTYPE,UMLS ID:C3805373,,,,,cataract 13 with adult I phenotype,MONDO:0007289,,,,,,OMIM ID:116700 | OMIM ID:600429 +BMGC_DS15018,BMG_DS056837,"ALBINISM, OCULOCUTANEOUS, TYPE VI",UMLS ID:C3805375,,,,,oculocutaneous albinism type 6,MONDO:0018264,,,oculocutaneous albinism type VI,DOID:0080614,,OMIM ID:113750 | OMIM ID:609802 +BMGC_DS15019,BMG_DS056838,CATARACT 29,UMLS ID:C3805409,,,,,cataract 29,MONDO:0007282,,,,,,OMIM ID:115800 +BMGC_DS15020,BMG_DS056839,"CATARACT 20, MULTIPLE TYPES",UMLS ID:C3805410,,,,,,,,,,,,OMIM ID:116100 | OMIM ID:123730 +BMGC_DS15021,BMG_DS056840,CATARACT 30,UMLS ID:C3805411,,,,,cataract 30,MONDO:0007286,,,,,,OMIM ID:193060 | OMIM ID:116300 +BMGC_DS15022,BMG_DS056841,CATARACT 41,UMLS ID:C3805412,,,,,cataract 41,MONDO:0007287,,,,,,OMIM ID:116400 | OMIM ID:606201 +BMGC_DS15023,BMG_DS056842,"COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C3805432,,,,,uveal coloboma-cleft lip and palate-intellectual disability,MONDO:0007355,,,,,,OMIM ID:606608 | OMIM ID:120433 +BMGC_DS15024,BMG_DS056843,FOVEAL HYPOPLASIA 1,UMLS ID:C3805604,,,,,foveal hypoplasia 1,MONDO:0007628,,,foveal hypoplasia 1,DOID:0070530,,OMIM ID:136520 | OMIM ID:607108 +BMGC_DS15025,BMG_DS056844,"CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",UMLS ID:C3805618,,,,,,,,,,,,OMIM ID:137440 | OMIM ID:176640 +BMGC_DS15026,BMG_DS056851,"MEGALENCEPHALY, AUTOSOMAL DOMINANT",UMLS ID:C3805727,,,,,"megalencephaly, autosomal dominant",MONDO:0007961,,,,,,OMIM ID:155350 +BMGC_DS15027,BMG_DS056854,"PRECOCIOUS PUBERTY, CENTRAL, 1",UMLS ID:C3805879,,,,,central precocious puberty 1,MONDO:0008302,,,central precocious puberty 1,DOID:0112310,,OMIM ID:176400 | OMIM ID:604161 +BMGC_DS15028,BMG_DS056858,"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",UMLS ID:C3806153,,,,,microcytic anemia with liver iron overload,MONDO:0008787,,,,,,OMIM ID:206100 +BMGC_DS15029,BMG_DS056859,BARDET-BIEDL SYNDROME 18,UMLS ID:C3806174,,,,,Bardet-Biedl syndrome 18,MONDO:0014446,,,,,,OMIM ID:615995 | OMIM ID:613605 +BMGC_DS15030,BMG_DS056863,"CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GASTRITIS, MEGALOBLASTIC ANEMIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C3806255,,,,,cystic fibrosis-gastritis-megaloblastic anemia syndrome,MONDO:0009062,,,,,,OMIM ID:219721 +BMGC_DS15031,BMG_DS056865,DEAFNESS AND MYOPIA,UMLS ID:C3806275,,,,,high myopia-sensorineural deafness syndrome,MONDO:0009082,,,high myopia-sensorineural deafness syndrome,DOID:0111628,,OMIM ID:609681 | OMIM ID:221200 +BMGC_DS15032,BMG_DS056872,"MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE",UMLS ID:C3806412,,,,,"macrocephaly/megalencephaly syndrome, autosomal recessive",MONDO:0009544,,,,,,OMIM ID:612655 | OMIM ID:248000 +BMGC_DS15033,BMG_DS056874,"XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME",UMLS ID:C3806565,,,,,"xeroderma pigmentosum, type F/Cockayne syndrome",MONDO:0800313,,,,,,OMIM ID:278760 | OMIM ID:133520 +BMGC_DS15034,BMG_DS056875,"CONGENITAL SHORT BOWEL SYNDROME, X-LINKED",UMLS ID:C3806579,,,,,,,,,X-linked chronic idiopathic intestinal pseudo-obstruction,DOID:0080681,,OMIM ID:300048 | OMIM ID:300017 +BMGC_DS15035,BMG_DS056876,"DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",UMLS ID:C3806634,,,,,severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,MONDO:0010334,,,"deafness, dystonia, and cerebral hypomyelination",DOID:0112123,,OMIM ID:300475 | OMIM ID:300398 +BMGC_DS15036,BMG_DS056878,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1,UMLS ID:C3806670,,,,,paroxysmal nocturnal hemoglobinuria 1,MONDO:0010438,,,,,,OMIM ID:300818 +BMGC_DS15037,BMG_DS056879,Solute carrier family 35 member A2 congenital disorder of glycosylation,UMLS ID:C3806688,SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation | Congenital disorder of glycosylation type 2m | Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Congenital disorder of glycosylation type IIm | Solute carrier family 35 member A2 congenital disorder of glycosylation | CDG2M - congenital disorder of glycosylation type 2m,SNOMEDCT ID:771516000,,,SLC35A2-congenital disorder of glycosylation,MONDO:0010478,,,,,,OMIM ID:300896 +BMGC_DS15038,BMG_DS056880,"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6",UMLS ID:C3806702,,,,,Charcot-Marie-Tooth disease X-linked dominant 6,MONDO:0010479,,,,,,OMIM ID:300906 | OMIM ID:300905 +BMGC_DS15039,BMG_DS056882,,UMLS ID:C3806711,,,,,susceptibility to angioedema induced by ACE inhibitors,MONDO:0100003,,,,,,OMIM ID:300909 +BMGC_DS15040,BMG_DS056883,"PARKINSONISM WITH SPASTICITY, X-LINKED",UMLS ID:C3806722,,,,,X-linked parkinsonism-spasticity syndrome,MONDO:0010482,,,X-linked parkinsonism-spasticity syndrome,DOID:0112105,,OMIM ID:300911 | OMIM ID:300556 +BMGC_DS15041,BMG_DS056884,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98",UMLS ID:C3806730,,,,,"X-linked intellectual disability, Cantagrel type",MONDO:0010483,,,non-syndromic X-linked intellectual disability 98,DOID:0112044,,OMIM ID:300912 | OMIM ID:300524 +BMGC_DS15042,BMG_DS056885,"DEAFNESS, X-LINKED 6",UMLS ID:C3806737,,,,,"hearing loss, X-linked 6",MONDO:0010484,,,X-linked deafness 6,DOID:0111740,,OMIM ID:300914 | OMIM ID:303631 +BMGC_DS15043,BMG_DS056886,"MICROPHTHALMIA, SYNDROMIC 13",UMLS ID:C3806742,,,,,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,MONDO:0010485,,,syndromic microphthalmia 13,DOID:0111811,,OMIM ID:300915 | OMIM ID:300193 +BMGC_DS15044,BMG_DS056887,"OLMSTED SYNDROME, X-LINKED",UMLS ID:C3806745,,,,,"Olmsted syndrome, X-linked",MONDO:0010486,,,X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112012,,OMIM ID:300918 | OMIM ID:300294 +BMGC_DS15045,BMG_DS056888,,UMLS ID:C3806746,,,,,"intellectual disability, X-linked 99",MONDO:0010487,,,,,,OMIM ID:300919 +BMGC_DS15046,BMG_DS056889,"GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA",UMLS ID:C3806774,,,,,,,,,X-linked dyskeratosis congenita,DOID:0070025,,OMIM ID:305000 +BMGC_DS15047,BMG_DS056891,CRANIOSYNOSTOSIS 4,UMLS ID:C3806917,,,,,,,,,craniosynostosis 4,DOID:0061012,,OMIM ID:611888 | OMIM ID:600775 +BMGC_DS15048,BMG_DS056892,"DYSERYTHROPOIESIS, CONGENITAL, WITH ULTRASTRUCTURALLY NORMAL ERYTHROBLAST HETEROCHROMATIN",UMLS ID:C3807235,,,,,"Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin",MONDO:0011332,,,,,,OMIM ID:603529 +BMGC_DS15049,BMG_DS056893,"CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",UMLS ID:C3807295,,,,,"autosomal dominant cerebellar ataxia, deafness and narcolepsy",MONDO:0011397,,,"autosomal dominant cerebellar ataxia, deafness and narcolepsy",DOID:0050968,,OMIM ID:604121 | OMIM ID:126375 +BMGC_DS15050,BMG_DS056896,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1",UMLS ID:C3807327,,,,,advanced sleep phase syndrome 1,MONDO:0011442,,,advanced sleep phase syndrome 1,DOID:0110011,,OMIM ID:604348 | OMIM ID:603426 +BMGC_DS15051,BMG_DS056898,AMYOTROPHIC LATERAL SCLEROSIS 21,UMLS ID:C3807521,,,,,amyotrophic lateral sclerosis type 21,MONDO:0011632,,,amyotrophic lateral sclerosis type 21,DOID:0060212,,OMIM ID:164015 | OMIM ID:606070 +BMGC_DS15052,BMG_DS056899,MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY,UMLS ID:C3807541,,,,,,,,,,,,OMIM ID:606369 +BMGC_DS15053,BMG_DS056900,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7",UMLS ID:C3807567,,,,,"partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome",MONDO:0011714,,,,,,OMIM ID:601047 | OMIM ID:606721 +BMGC_DS15054,BMG_DS056904,CHROMOSOME 15q11.2 DUPLICATION SYNDROME,UMLS ID:C3807826,,,,,,,,,,,,OMIM ID:608636 +BMGC_DS15055,BMG_DS056905,FOVEAL HYPOPLASIA 2,UMLS ID:C3807873,,,,,foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome,MONDO:0012216,,,,,,OMIM ID:609218 | OMIM ID:615585 +BMGC_DS15056,BMG_DS056907,"CATARACT 23, MULTIPLE TYPES",UMLS ID:C3808012,,,,,cataract 23,MONDO:0012489,,,,,,OMIM ID:610425 +BMGC_DS15057,BMG_DS056908,CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES,UMLS ID:C3808029,,,,,,,,,,,,OMIM ID:610623 +BMGC_DS15058,BMG_DS056910,"CATARACT 33, MULTIPLE TYPES",UMLS ID:C3808107,,,,,cataract 33,MONDO:0012665,,,,,,OMIM ID:611391 +BMGC_DS15059,BMG_DS056911,"CATARACT 12, MULTIPLE TYPES",UMLS ID:C3808115,,,,,cataract 12 multiple types,MONDO:0012701,,,,,,OMIM ID:603212 | OMIM ID:611597 +BMGC_DS15060,BMG_DS056912,LEFT VENTRICULAR NONCOMPACTION 9,UMLS ID:C3808145,,,,,left ventricular noncompaction 9,MONDO:0800346,,,,,,OMIM ID:191010 | OMIM ID:611878 +BMGC_DS15061,BMG_DS056913,MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT,UMLS ID:C3808166,,,,,,,,,,,,OMIM ID:604685 | OMIM ID:612290 +BMGC_DS15062,BMG_DS056915,"CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME",UMLS ID:C3808300,,,,,chromosome 17p13.3 duplication syndrome,MONDO:0013182,,,,,,OMIM ID:613215 +BMGC_DS15063,BMG_DS056916,"CATARACT 16, MULTIPLE TYPES",UMLS ID:C3808377,,,,,cataract 16 multiple types,MONDO:0013411,,,,,,OMIM ID:613763 +BMGC_DS15064,BMG_DS056917,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",UMLS ID:C3808397,,,,,complex cortical dysplasia with other brain malformations 1,MONDO:0013541,,,,,,OMIM ID:614039 | OMIM ID:602661 +BMGC_DS15065,BMG_DS056918,PERRAULT SYNDROME 3,UMLS ID:C3808414,,,,,Perrault syndrome 3,MONDO:0013588,,,,,,OMIM ID:614129 | OMIM ID:601119 +BMGC_DS15066,BMG_DS056919,CHROMOSOME 2p16.3 DELETION SYNDROME,UMLS ID:C3808494,,,,,chromosome 2p16.3 deletion syndrome,MONDO:0013696,,,,,,OMIM ID:614332 +BMGC_DS15067,BMG_DS056920,BONE MARROW FAILURE SYNDROME 1,UMLS ID:C3808553,,,,,autosomal dominant aplasia and myelodysplasia,MONDO:0013851,,,,,,OMIM ID:602122 | OMIM ID:614675 +BMGC_DS15068,BMG_DS056921,IMMUNODEFICIENCY 32A,UMLS ID:C3808589,,,,,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,MONDO:0013957,,,immunodeficiency 32A,DOID:0111986,,OMIM ID:601565 | OMIM ID:614893 +BMGC_DS15069,BMG_DS056923,"EPISODIC PAIN SYNDROME, FAMILIAL, 1",UMLS ID:C3808667,,,,,familial episodic pain syndrome with predominantly upper body involvement,MONDO:0014021,,,familial episodic pain syndrome 1,DOID:0111729,,OMIM ID:604775 | OMIM ID:615040 +BMGC_DS15070,BMG_DS056926,"MYASTHENIC SYNDROME, CONGENITAL, 8",UMLS ID:C3808739,,,,,congenital myasthenic syndrome 8,MONDO:0014052,,,congenital myasthenic syndrome 8,DOID:0110657,,OMIM ID:615120 | OMIM ID:103320 +BMGC_DS15071,BMG_DS056928,"ALBINISM, OCULOCUTANEOUS, TYPE VII",UMLS ID:C3808786,,,,,oculocutaneous albinism type 7,MONDO:0014070,,,oculocutaneous albinism type VII,DOID:0070100,,OMIM ID:614537 | OMIM ID:615179 +BMGC_DS15072,BMG_DS056929,"CATARACT 39, MULTIPLE TYPES",UMLS ID:C3808800,,,,,cataract 39 multiple types,MONDO:0014075,,,,,,OMIM ID:123670 | OMIM ID:615188 +BMGC_DS15073,BMG_DS056930,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4",UMLS ID:C3808802,,,,,"dyskeratosis congenita, autosomal dominant 4",MONDO:0800366,,,autosomal recessive dyskeratosis congenita 5,DOID:0070022,,OMIM ID:608833 | OMIM ID:615190 +BMGC_DS15074,BMG_DS056931,"OSTEOGENESIS IMPERFECTA, TYPE XV",UMLS ID:C3808844,,,,,osteogenesis imperfecta type 15,MONDO:0014086,,,,,,OMIM ID:164820 | OMIM ID:615220 +BMGC_DS15075,BMG_DS056932,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2",UMLS ID:C3808874,,,,,advanced sleep phase syndrome 2,MONDO:0014088,,,advanced sleep phase syndrome 2,DOID:0110012,,OMIM ID:600864 | OMIM ID:615224 +BMGC_DS15076,BMG_DS056933,,UMLS ID:C3808876,,,,,corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,MONDO:0014089,,,,,,OMIM ID:616964 | OMIM ID:615225 +BMGC_DS15077,BMG_DS056934,"POLYDACTYLY, POSTAXIAL, TYPE A6",UMLS ID:C3808889,,,,,"polydactyly, postaxial, type A6",MONDO:0014090,,,,,,OMIM ID:194648 | OMIM ID:615226 +BMGC_DS15078,BMG_DS056935,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4B",UMLS ID:C3808899,,,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 4B,MONDO:0014091,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 4B,DOID:0070462,,OMIM ID:164360 | OMIM ID:615228 +BMGC_DS15079,BMG_DS056936,,UMLS ID:C3808913,,,,,schizophrenia 18,MONDO:0014092,,,,,,OMIM ID:615232 +BMGC_DS15080,BMG_DS056937,"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2",UMLS ID:C3808920,,,,,severe congenital hypochromic anemia with ringed sideroblasts,MONDO:0014094,,,,,,OMIM ID:609671 | OMIM ID:615234 +BMGC_DS15081,BMG_DS056939,"CARDIOMYOPATHY, DILATED, 1JJ",UMLS ID:C3808935,,,,,dilated cardiomyopathy 1JJ,MONDO:0014095,,,,,,OMIM ID:600133 | OMIM ID:615235 +BMGC_DS15082,BMG_DS056940,CIDEC-related familial partial lipodystrophy,UMLS ID:C3808940,Cell death inducing DFFA like effector C-related familial partial lipodystrophy | CIDEC-related familial partial lipodystrophy | Cell death inducing DFFA like effector C-related familial partial lipodystrophy (disorder) | FPLD5 - familial partial lipodystrophy type 5,SNOMEDCT ID:1197749008,,,CIDEC-related familial partial lipodystrophy,MONDO:0014098,,,,,,OMIM ID:615238 +BMGC_DS15083,BMG_DS056941,"NEPHROTIC SYNDROME, TYPE 8",UMLS ID:C3808953,,,,,"nephrotic syndrome, type 8",MONDO:0014099,,,nephrotic syndrome type 8,DOID:0080389,,OMIM ID:601925 | OMIM ID:615244 +BMGC_DS15084,BMG_DS056942,"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4",UMLS ID:C3808963,,,,,,,,,,,,OMIM ID:615248 | OMIM ID:608517 +BMGC_DS15085,BMG_DS056943,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12",UMLS ID:C3808964,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12",MONDO:0014101,,,congenital muscular dystrophy-dystroglycanopathy type A12,DOID:0111235,,OMIM ID:615249 | OMIM ID:615247 +BMGC_DS15086,BMG_DS056944,HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA,UMLS ID:C3808971,,,,,hypogonadotropic hypogonadism 17 with or without anosmia,MONDO:0014102,,,,,,OMIM ID:615266 +BMGC_DS15087,BMG_DS056945,HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA,UMLS ID:C3808975,,,,,hypogonadotropic hypogonadism 18 with or without anosmia,MONDO:0014103,,,,,,OMIM ID:615267 +BMGC_DS15088,BMG_DS056946,"CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4",UMLS ID:C3808977,,,,,"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4",MONDO:0014104,,,"cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4",DOID:0070559,,OMIM ID:605870 | OMIM ID:615268 +BMGC_DS15089,BMG_DS056947,HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA,UMLS ID:C3808981,,,,,hypogonadotropic hypogonadism 19 with or without anosmia,MONDO:0014105,,,,,,OMIM ID:615269 +BMGC_DS15090,BMG_DS056948,HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA,UMLS ID:C3808983,,,,,hypogonadotropic hypogonadism 20 with or without anosmia,MONDO:0014106,,,,,,OMIM ID:615270 +BMGC_DS15091,BMG_DS056949,HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA,UMLS ID:C3808986,,,,,hypogonadotropic hypogonadism 21 with or without anosmia,MONDO:0014107,,,,,,OMIM ID:615271 +BMGC_DS15092,BMG_DS056950,"FANCONI ANEMIA, COMPLEMENTATION GROUP Q",UMLS ID:C3808988,,,,,Fanconi anemia complementation group Q,MONDO:0014108,,,Fanconi anemia complementation group Q,DOID:0111093,,OMIM ID:615272 | OMIM ID:133520 +BMGC_DS15093,BMG_DS056951,NGLY1 deficiency,UMLS ID:C3808991,,,,,congenital disorder of deglycosylation,MONDO:0031376,,MeSH ID:C000626124,congenital disorder of deglycosylation 1,DOID:0060728,, +BMGC_DS15094,BMG_DS056952,"CATARACT 15, MULTIPLE TYPES",UMLS ID:C3809001,,,,,cataract 15 multiple types,MONDO:0014110,,,,,,OMIM ID:615274 | OMIM ID:154050 +BMGC_DS15095,BMG_DS056953,"CATARACT 19, MULTIPLE TYPES",UMLS ID:C3809004,,,,,cataract 19 multiple types,MONDO:0014111,,,,,,OMIM ID:615277 +BMGC_DS15096,BMG_DS056954,CARDIOFACIOCUTANEOUS SYNDROME 2,UMLS ID:C3809005,,,,,cardiofaciocutaneous syndrome 2,MONDO:0014112,,,cardiofaciocutaneous syndrome 2,DOID:0111461,,OMIM ID:615278 | OMIM ID:190070 +BMGC_DS15097,BMG_DS056955,CARDIOFACIOCUTANEOUS SYNDROME 3,UMLS ID:C3809006,,,,,cardiofaciocutaneous syndrome 3,MONDO:0014113,,,cardiofaciocutaneous syndrome 3,DOID:0111462,,OMIM ID:615279 | OMIM ID:176872 +BMGC_DS15098,BMG_DS056956,CARDIOFACIOCUTANEOUS SYNDROME 4,UMLS ID:C3809007,,,,,cardiofaciocutaneous syndrome 4,MONDO:0014114,,,cardiofaciocutaneous syndrome 4,DOID:0111463,,OMIM ID:615280 | OMIM ID:601263 +BMGC_DS15099,BMG_DS056957,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2",UMLS ID:C3809013,,,,,complex cortical dysplasia with other brain malformations 2,MONDO:0014116,,,complex cortical dysplasia with other brain malformations 2,DOID:0090133,,OMIM ID:615282 | OMIM ID:604593 +BMGC_DS15100,BMG_DS056958,"NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",UMLS ID:C3809031,,,,,congenital neutropenia-myelofibrosis-nephromegaly syndrome,MONDO:0014118,,,severe congenital neutropenia 5,DOID:0112132,,OMIM ID:615285 | OMIM ID:610035 +BMGC_DS15101,BMG_DS056960,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13",UMLS ID:C3809042,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13",MONDO:0014120,,,congenital muscular dystrophy-dystroglycanopathy type A13,DOID:0111238,,OMIM ID:615287 | OMIM ID:605517 +BMGC_DS15102,BMG_DS056961,"MYOFIBROMATOSIS, INFANTILE, 2",UMLS ID:C3809084,,,,,"myofibromatosis, infantile, 2",MONDO:0014122,,,,,,OMIM ID:615293 | OMIM ID:600276 +BMGC_DS15103,BMG_DS056962,"CILIARY DYSKINESIA, PRIMARY, 21",UMLS ID:C3809087,,,,,primary ciliary dyskinesia 21,MONDO:0014123,,,,,,OMIM ID:615294 +BMGC_DS15104,BMG_DS056963,ADAMS-OLIVER SYNDROME 4,UMLS ID:C3809092,,,,,Adams-Oliver syndrome 4,MONDO:0014124,,,,,,OMIM ID:615297 | OMIM ID:614789 +BMGC_DS15105,BMG_DS056967,"SYMPHALANGISM, PROXIMAL, 1B",UMLS ID:C3809104,,,,,"symphalangism, proximal, 1B",MONDO:0014125,,,proximal symphalangism 2,DOID:0080788,,OMIM ID:615298 | OMIM ID:601146 +BMGC_DS15106,BMG_DS056968,PERRAULT SYNDROME 4,UMLS ID:C3809105,,,,,Perrault syndrome 4,MONDO:0014126,,,,,,OMIM ID:615300 | OMIM ID:604544 +BMGC_DS15107,BMG_DS056969,DOWLING-DEGOS DISEASE 2,UMLS ID:C3809147,,,,,Dowling-Degos disease 2,MONDO:0014130,,,,,,OMIM ID:615327 | OMIM ID:607491 +BMGC_DS15108,BMG_DS056970,"Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome",UMLS ID:C3809160,"Shaheen syndrome | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) | Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome",SNOMEDCT ID:773553003,,,hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,MONDO:0014131,,,,,,OMIM ID:615328 +BMGC_DS15109,BMG_DS056971,Multiple mitochondrial dysfunctions syndrome type 3,UMLS ID:C3809165,Multiple mitochondrial dysfunctions syndrome type 3 | MMDS3 - multiple mitochondrial dysfunctions syndrome type 3 | Multiple mitochondrial dysfunctions syndrome type 3 (disorder) | IBA57 (iron-sulfur cluster assembly factor IBA57) deficiency,SNOMEDCT ID:1208620009,,,multiple mitochondrial dysfunctions syndrome 3,MONDO:0014132,,,,,,OMIM ID:615330 +BMGC_DS15110,BMG_DS056972,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16,UMLS ID:C3809173,,,,,"developmental and epileptic encephalopathy, 16",MONDO:0014133,,,developmental and epileptic encephalopathy 16,DOID:0080449,,OMIM ID:615338 | OMIM ID:138290 | OMIM ID:613577 +BMGC_DS15111,BMG_DS056974,"PULMONARY HYPERTENSION, PRIMARY, 3",UMLS ID:C3809192,,,,,"pulmonary hypertension, primary, 3",MONDO:0014135,,,,,,OMIM ID:615343 | OMIM ID:601047 +BMGC_DS15112,BMG_DS056975,"PULMONARY HYPERTENSION, PRIMARY, 4",UMLS ID:C3809198,,,,,"pulmonary hypertension, primary, 4",MONDO:0014136,,,,,,OMIM ID:603220 | OMIM ID:615344 +BMGC_DS15113,BMG_DS056976,Central precocious puberty 2,UMLS ID:C3809199,,,,,"precocious puberty, central, 2",MONDO:0014137,,MeSH ID:C000726751,,,,OMIM ID:615346 +BMGC_DS15114,BMG_DS056977,NEMALINE MYOPATHY 8,UMLS ID:C3809209,,,,,nemaline myopathy 8,MONDO:0014138,,,nemaline myopathy 8,DOID:0110930,,OMIM ID:615340 | OMIM ID:615348 +BMGC_DS15115,BMG_DS056978,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,UMLS ID:C3809210,"Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome | Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | Ehlers-Danlos syndrome progeroid type 2",SNOMEDCT ID:1251499005,,,"Ehlers-Danlos syndrome, spondylodysplastic type, 2",MONDO:0014139,,,,,,OMIM ID:615349 +BMGC_DS15116,BMG_DS056979,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",UMLS ID:C3809216,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",MONDO:0014140,,,congenital muscular dystrophy-dystroglycanopathy A14,DOID:0111233,,OMIM ID:615350 | OMIM ID:615320 +BMGC_DS15117,BMG_DS056980,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14",UMLS ID:C3809221,,,,,"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14",MONDO:0014141,,,muscular dystrophy-dystroglycanopathy type B14,DOID:0112377,,OMIM ID:615320 | OMIM ID:615351 +BMGC_DS15118,BMG_DS056981,NOONAN SYNDROME 8,UMLS ID:C3809233,,,,,Noonan syndrome 8,MONDO:0014143,,,,,,OMIM ID:609591 | OMIM ID:615355 +BMGC_DS15119,BMG_DS056982,"HYPOCALCEMIA, AUTOSOMAL DOMINANT 2",UMLS ID:C3809243,,,,,autosomal dominant hypocalcemia 2,MONDO:0014146,,,autosomal dominant hypocalcemia 2,DOID:0090108,,OMIM ID:139313 | OMIM ID:615361 +BMGC_DS15120,BMG_DS056983,ESTROGEN RESISTANCE,UMLS ID:C3809250,,,,,estrogen resistance syndrome,MONDO:0014148,,,,,,OMIM ID:615363 | OMIM ID:133430 +BMGC_DS15121,BMG_DS056987,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94,UMLS ID:C3809278,,,,,developmental and epileptic encephalopathy 94,MONDO:0014150,,,developmental and epileptic encephalopathy 94,DOID:0081325,,OMIM ID:615369 | OMIM ID:602119 +BMGC_DS15122,BMG_DS056988,LEFT VENTRICULAR NONCOMPACTION 8,UMLS ID:C3809288,,,,,left ventricular noncompaction 8,MONDO:0014152,,,dilated cardiomyopathy 1LL,DOID:0081157,,OMIM ID:615373 | OMIM ID:605557 +BMGC_DS15123,BMG_DS056989,"CARDIOMYOPATHY, DILATED, 1LL",UMLS ID:C3809289,,,,,"cardiomyopathy, dilated, 1LL",MONDO:0800367,,,dilated cardiomyopathy 1LL,DOID:0081157,,OMIM ID:605557 | OMIM ID:615373 +BMGC_DS15124,BMG_DS056990,CONE-ROD DYSTROPHY 18,UMLS ID:C3809299,,,,,cone-rod dystrophy 18,MONDO:0014153,,,cone-rod dystrophy 18,DOID:0111024,,OMIM ID:612994 | OMIM ID:615374 +BMGC_DS15125,BMG_DS056991,"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",UMLS ID:C3809309,,,,,Charcot-Marie-Tooth disease recessive intermediate C,MONDO:0014154,,,,,,OMIM ID:611101 | OMIM ID:615376 +BMGC_DS15126,BMG_DS056992,"ATRIAL FIBRILLATION, FAMILIAL, 13",UMLS ID:C3809311,,,,,"atrial fibrillation, familial, 13",MONDO:0014155,,,,,,OMIM ID:615377 | OMIM ID:600235 +BMGC_DS15127,BMG_DS056993,"ATRIAL FIBRILLATION, FAMILIAL, 14",UMLS ID:C3809312,,,,,"atrial fibrillation, familial, 14",MONDO:0014156,,,,,,OMIM ID:601327 | OMIM ID:615378 +BMGC_DS15128,BMG_DS056994,NEPHRONOPHTHISIS 16,UMLS ID:C3809320,,,,,nephronophthisis 16,MONDO:0014158,,,nephronophthisis 16,DOID:0111124,,OMIM ID:615370 | OMIM ID:615382 +BMGC_DS15129,BMG_DS056995,IMMUNODEFICIENCY 7,UMLS ID:C3809332,,,,,TCR-alpha-beta-positive T-cell deficiency,MONDO:0014160,,,immunodeficiency 7,DOID:0111977,,OMIM ID:186880 | OMIM ID:615387 +BMGC_DS15130,BMG_DS056997,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16,UMLS ID:C3809339,,,,,infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,MONDO:0014162,,,combined oxidative phosphorylation deficiency 16,DOID:0111469,,OMIM ID:615395 | OMIM ID:611849 +BMGC_DS15131,BMG_DS056998,"CARDIOMYOPATHY, DILATED, 1MM",UMLS ID:C3809346,,,,,"cardiomyopathy, dilated, 1MM",MONDO:0800368,,,dilated cardiomyopathy 1MM,DOID:0081158,,OMIM ID:600958 | OMIM ID:615396 +BMGC_DS15132,BMG_DS057001,"MECKEL SYNDROME, TYPE 11",UMLS ID:C3809352,,,,,"Meckel syndrome, type 11",MONDO:0014164,,,,,,OMIM ID:615397 | OMIM ID:614949 +BMGC_DS15133,BMG_DS057002,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3,UMLS ID:C3809356,,,,,multiple congenital anomalies-hypotonia-seizures syndrome 3,MONDO:0014165,,,multiple congenital anomalies-hypotonia-seizures syndrome 3,DOID:0080140,,OMIM ID:615398 | OMIM ID:603530 | OMIM ID:615398 | OMIM ID:610272 +BMGC_DS15134,BMG_DS057003,PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2,UMLS ID:C3809369,,,,,paroxysmal nocturnal hemoglobinuria 2,MONDO:0014166,,,,,,OMIM ID:615399 +BMGC_DS15135,BMG_DS057004,"EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY",UMLS ID:C3809374,,,,,"epilepsy, familial adult myoclonic, 5",MONDO:0014167,,,familial adult myoclonic epilepsy 5,DOID:0111691,,OMIM ID:615400 +BMGC_DS15136,BMG_DS057005,Severe combined immunodeficiency due to CORO1A deficiency,UMLS ID:C3809383,Severe combined immunodeficiency due to CORO1A deficiency | Severe combined immunodeficiency due to coronin 1A deficiency | Severe combined immunodeficiency due to coronin 1A deficiency (disorder),SNOMEDCT ID:1229942009,,,severe combined immunodeficiency due to CORO1A deficiency,MONDO:0014168,,,,,,OMIM ID:615401 +BMGC_DS15137,BMG_DS057006,DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3,UMLS ID:C3809394,,,,,dyschromatosis universalis hereditaria 3,MONDO:0014169,,,,,,OMIM ID:615402 | OMIM ID:605452 +BMGC_DS15138,BMG_DS057007,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3",UMLS ID:C3809414,,,,,complex cortical dysplasia with other brain malformations 3,MONDO:0014170,,,complex cortical dysplasia with other brain malformations 3,DOID:0090134,,OMIM ID:615411 | OMIM ID:602591 +BMGC_DS15139,BMG_DS057008,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4",UMLS ID:C3809420,,,,,complex cortical dysplasia with other brain malformations 4,MONDO:0014171,,,complex cortical dysplasia with other brain malformations 4,DOID:0090138,,OMIM ID:615412 | OMIM ID:191135 +BMGC_DS15140,BMG_DS057009,SPERMATOGENIC FAILURE 12,UMLS ID:C3809427,,,,,spermatogenic failure 12,MONDO:0014172,,,spermatogenic failure 12,DOID:0070171,,OMIM ID:615413 | OMIM ID:608226 +BMGC_DS15141,BMG_DS057010,"MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C3809431,,,,,"microcephaly 11, primary, autosomal recessive",MONDO:0014173,,,primary autosomal recessive microcephaly 11,DOID:0070287,,OMIM ID:602978 | OMIM ID:615414 +BMGC_DS15142,BMG_DS057011,RENAL-HEPATIC-PANCREATIC DYSPLASIA 2,UMLS ID:C3809434,,,,,renal-hepatic-pancreatic dysplasia 2,MONDO:0014174,,,,,,OMIM ID:615415 | OMIM ID:609799 +BMGC_DS15143,BMG_DS057012,"MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE",UMLS ID:C3809443,,,,,"mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive",MONDO:0014175,,,mitochondrial DNA depletion syndrome 12b,DOID:0080335,,OMIM ID:615418 | OMIM ID:103220 +BMGC_DS15144,BMG_DS057013,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1",UMLS ID:C3809454,,,,,"hypotonia, infantile, with psychomotor retardation and characteristic facies 1",MONDO:0024567,,,,,,OMIM ID:615419 | OMIM ID:611549 +BMGC_DS15145,BMG_DS057014,"MYOPIA 22, AUTOSOMAL DOMINANT",UMLS ID:C3809464,,,,,"myopia 22, autosomal dominant",MONDO:0014177,,,,,,OMIM ID:615421 | OMIM ID:615420 +BMGC_DS15146,BMG_DS057015,INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2,UMLS ID:C3809468,,,,,inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2,MONDO:0014178,,,inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2,DOID:0111384,,OMIM ID:615422 +BMGC_DS15147,BMG_DS057016,INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3,UMLS ID:C3809469,,,,,inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3,MONDO:0014179,,,inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3,DOID:0111386,,OMIM ID:615424 +BMGC_DS15148,BMG_DS057017,"EPIDERMOLYSIS BULLOSA SIMPLEX 3, LOCALIZED OR GENERALIZED INTERMEDIATE, WITH BP230 DEFICIENCY",UMLS ID:C3809470,,,,,"epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency",MONDO:0014180,,,,,,OMIM ID:615425 | OMIM ID:113810 +BMGC_DS15149,BMG_DS057018,"MYOPIA 23, AUTOSOMAL RECESSIVE",UMLS ID:C3809482,,,,,"myopia 23, autosomal recessive",MONDO:0014183,,,,,,OMIM ID:615431 | OMIM ID:104225 +BMGC_DS15150,BMG_DS057019,SPECIFIC LANGUAGE IMPAIRMENT 5,UMLS ID:C3809483,,,,,specific language impairment 5,MONDO:0014184,,,,,,OMIM ID:615432 | OMIM ID:615404 +BMGC_DS15151,BMG_DS057020,CHROMOSOME 3q13.31 DELETION SYNDROME,UMLS ID:C3809490,,,,,chromosome 3q13.31 deletion syndrome,MONDO:0014185,,,,,,OMIM ID:615433 +BMGC_DS15152,BMG_DS057021,"AORTIC ANEURYSM, FAMILIAL THORACIC 8",UMLS ID:C3809513,,,,,"aortic aneurysm, familial thoracic 8",MONDO:0014187,,,,,,OMIM ID:615436 | OMIM ID:176894 +BMGC_DS15153,BMG_DS057022,INFANTILE LIVER FAILURE SYNDROME 1,UMLS ID:C3809522,,,,,infantile liver failure syndrome 1,MONDO:0024568,,,infantile liver failure syndrome 1,DOID:0080717,,OMIM ID:151350 | OMIM ID:615438 +BMGC_DS15154,BMG_DS057023,"MACULAR DEGENERATION, AGE-RELATED, 13",UMLS ID:C3809523,,,,,age related macular degeneration 13,MONDO:0014189,,,age related macular degeneration 13,DOID:0110025,,OMIM ID:615439 +BMGC_DS15155,BMG_DS057024,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17,UMLS ID:C3809526,,,,,combined oxidative phosphorylation defect type 17,MONDO:0014190,,,combined oxidative phosphorylation deficiency 17,DOID:0111496,,OMIM ID:605367 | OMIM ID:615440 +BMGC_DS15156,BMG_DS057025,"CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS",UMLS ID:C3809536,,,,,catecholaminergic polymorphic ventricular tachycardia 5,MONDO:0014191,,,,,,OMIM ID:615441 +BMGC_DS15157,BMG_DS057026,"CILIARY DYSKINESIA, PRIMARY, 22",UMLS ID:C3809543,,,,,primary ciliary dyskinesia 22,MONDO:0014192,,,,,,OMIM ID:607070 | OMIM ID:615444 +BMGC_DS15158,BMG_DS057027,"CILIARY DYSKINESIA, PRIMARY, 23",UMLS ID:C3809548,,,,,primary ciliary dyskinesia 23,MONDO:0014193,,,,,,OMIM ID:615408 | OMIM ID:615451 +BMGC_DS15159,BMG_DS057028,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6",UMLS ID:C3809553,,,,,mitochondrial complex III deficiency nuclear type 6,MONDO:0014194,,,mitochondrial complex III deficiency nuclear type 6,DOID:0080115,,OMIM ID:123980 | OMIM ID:615453 +BMGC_DS15160,BMG_DS057030,"MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS",UMLS ID:C3809567,,,,,microcornea-myopic chorioretinal atrophy,MONDO:0014195,,,,,,OMIM ID:615458 | OMIM ID:607512 +BMGC_DS15161,BMG_DS057031,IMMUNODEFICIENCY 12,UMLS ID:C3809583,,,,,combined immunodeficiency due to MALT1 deficiency,MONDO:0014197,,,immunodeficiency 12,DOID:0111988,,OMIM ID:615468 | OMIM ID:604860 +BMGC_DS15162,BMG_DS057032,FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome,UMLS ID:C3809592,Mitochondrial DNA depletion syndrome 13 encephalomyopathic type | FBXL4-related early onset mitochondrial encephalopathy | FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome | FBXL4 (F-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) | F-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form,SNOMEDCT ID:765403009,,,mitochondrial DNA depletion syndrome 13,MONDO:0014198,,,,,,OMIM ID:615471 +BMGC_DS15163,BMG_DS057033,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17",UMLS ID:C3809606,,,,,"developmental and epileptic encephalopathy, 17",MONDO:0014199,,,developmental and epileptic encephalopathy 17,DOID:0080450,,OMIM ID:615473 +BMGC_DS15164,BMG_DS057034,"PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",UMLS ID:C3809609,,,,,aldosterone-producing adenoma with seizures and neurological abnormalities,MONDO:0014200,,,,,,OMIM ID:114206 | OMIM ID:615474 +BMGC_DS15165,BMG_DS057036,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18,UMLS ID:C3809624,,,,,"developmental and epileptic encephalopathy, 18",MONDO:0014201,,,developmental and epileptic encephalopathy 18,DOID:0080413,,OMIM ID:615463 | OMIM ID:615476 +BMGC_DS15166,BMG_DS057037,"CILIARY DYSKINESIA, PRIMARY, 24",UMLS ID:C3809634,,,,,primary ciliary dyskinesia 24,MONDO:0014202,,,,,,OMIM ID:615481 +BMGC_DS15167,BMG_DS057038,"CILIARY DYSKINESIA, PRIMARY, 25",UMLS ID:C3809641,,,,,primary ciliary dyskinesia 25,MONDO:0014203,,,,,,OMIM ID:608706 | OMIM ID:615482 +BMGC_DS15168,BMG_DS057039,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5",UMLS ID:C3809645,,,,,"basal ganglia calcification, idiopathic, 5",MONDO:0014204,,,,,,OMIM ID:615483 | OMIM ID:190040 +BMGC_DS15169,BMG_DS057040,INFANTILE LIVER FAILURE SYNDROME 2,UMLS ID:C3809651,,,,,infantile liver failure syndrome 2,MONDO:0014659,,,,,,OMIM ID:608025 | OMIM ID:616483 +BMGC_DS15170,BMG_DS057041,"MACULAR DEGENERATION, AGE-RELATED, 14",UMLS ID:C3809653,,,,,age related macular degeneration 14,MONDO:0014207,,,age related macular degeneration 14,DOID:0110026,,OMIM ID:615489 +BMGC_DS15171,BMG_DS057042,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R",UMLS ID:C3809655,,,,,Charcot-Marie-Tooth disease type 2R,MONDO:0014208,,,,,,OMIM ID:614141 | OMIM ID:615490 +BMGC_DS15172,BMG_DS057043,"SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE",UMLS ID:C3809665,,,,,early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,MONDO:0014209,,,hereditary spastic paraplegia 79B,DOID:0112344,,OMIM ID:191342 | OMIM ID:615491 +BMGC_DS15173,BMG_DS057044,,UMLS ID:C3809672,,,,,intellectual disability-hypotonia-spasticity-sleep disorder syndrome,MONDO:0014210,,,,,,OMIM ID:615493 +BMGC_DS15174,BMG_DS057045,"CILIARY DYSKINESIA, PRIMARY, 26",UMLS ID:C3809684,,,,,primary ciliary dyskinesia 26,MONDO:0014211,,,,,,OMIM ID:615500 +BMGC_DS15175,BMG_DS057046,,UMLS ID:C3809686,,,,,intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome,MONDO:0014213,,,,,,OMIM ID:615502 +BMGC_DS15176,BMG_DS057047,SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C3809691,,,,,short-rib thoracic dysplasia 8 with or without polydactyly,MONDO:0014214,,,,,,OMIM ID:615503 | OMIM ID:615462 +BMGC_DS15177,BMG_DS057048,"CILIARY DYSKINESIA, PRIMARY, 27",UMLS ID:C3809701,,,,,primary ciliary dyskinesia 27,MONDO:0014215,,,,,,OMIM ID:615504 +BMGC_DS15178,BMG_DS057049,"CILIARY DYSKINESIA, PRIMARY, 28",UMLS ID:C3809706,,,,,primary ciliary dyskinesia 28,MONDO:0014216,,,,,,OMIM ID:615505 +BMGC_DS15179,BMG_DS057050,"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5",UMLS ID:C3809710,,,,,"telangiectasia, hereditary hemorrhagic, type 5",MONDO:0014217,,,,,,OMIM ID:615506 | OMIM ID:605120 +BMGC_DS15180,BMG_DS057051,"Severe dermatitis, multiple allergies, metabolic wasting syndrome",UMLS ID:C3809719,"Severe dermatitis, multiple allergies, metabolic wasting syndrome | Severe dermatitis, multiple allergies, metabolic wasting syndrome (disorder) | Congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome | SAM syndrome",SNOMEDCT ID:774211005,,,severe dermatitis-multiple allergies-metabolic wasting syndrome,MONDO:0014218,,,,,,OMIM ID:615508 +BMGC_DS15181,BMG_DS057054,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38",UMLS ID:C3809753,,,,,developmental delay with autism spectrum disorder and gait instability,MONDO:0014224,,,autosomal recessive intellectual developmental disorder 38,DOID:0081203,,OMIM ID:615516 | OMIM ID:605837 +BMGC_DS15182,BMG_DS057055,IMMUNODEFICIENCY 13,UMLS ID:C3809768,,,,,idiopathic CD4 lymphocytopenia,MONDO:0014226,,,immunodeficiency 13,DOID:0111987,,OMIM ID:604011 | OMIM ID:615518 +BMGC_DS15183,BMG_DS057057,Cole disease,UMLS ID:C3809781,Cole disease | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification | Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder),SNOMEDCT ID:711154007,,,hypopigmentation-punctate palmoplantar keratoderma syndrome,MONDO:0014227,,,,,,OMIM ID:615522 +BMGC_DS15184,BMG_DS057063,"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8",UMLS ID:C3809798,,,,,"corneal dystrophy, Fuchs endothelial, 8",MONDO:0014228,,,,,,OMIM ID:615523 | OMIM ID:615496 +BMGC_DS15185,BMG_DS057064,"MICROPHTHALMIA, SYNDROMIC 12",UMLS ID:C3809803,,,,,"microphthalmia, syndromic 12",MONDO:0014229,,,syndromic microphthalmia 12,DOID:0111800,,OMIM ID:615524 | OMIM ID:180220 +BMGC_DS15186,BMG_DS057065,"PARKINSON DISEASE 19A, JUVENILE-ONSET",UMLS ID:C3809811,,,,,juvenile onset Parkinson disease 19A,MONDO:0014231,,,,,,OMIM ID:615528 | OMIM ID:608375 +BMGC_DS15187,BMG_DS057066,,UMLS ID:C3809819,,,,,"craniosynostosis 5, susceptibility to",MONDO:0014232,,,,,,OMIM ID:615529 +BMGC_DS15188,BMG_DS057067,"PARKINSON DISEASE 20, EARLY-ONSET",UMLS ID:C3809824,,,,,early-onset Parkinson disease 20,MONDO:0014233,,,Parkinson's disease 20,DOID:0060898,,OMIM ID:615530 | OMIM ID:604297 +BMGC_DS15189,BMG_DS057069,CHROMOSOME 22q13 DUPLICATION SYNDROME,UMLS ID:C3809844,,,,,chromosome 22q13 duplication syndrome,MONDO:0014235,,,chromosome 22q13 duplication syndrome,DOID:0060437,,OMIM ID:615538 +BMGC_DS15190,BMG_DS057070,"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2",UMLS ID:C3809845,,,,,"Ehlers-Danlos syndrome, musculocontractural type 2",MONDO:0014236,,,Ehlers-Danlos syndrome musculocontractural type 2,DOID:0080737,,OMIM ID:605942 | OMIM ID:615539 +BMGC_DS15191,BMG_DS057071,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39",UMLS ID:C3809853,,,,,severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,MONDO:0014238,,,autosomal recessive intellectual developmental disorder 39,DOID:0081204,,OMIM ID:614426 | OMIM ID:615541 +BMGC_DS15192,BMG_DS057072,TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE,UMLS ID:C3809858,,,,,testicular anomalies with or without congenital heart disease,MONDO:0014239,,,,,,OMIM ID:600576 | OMIM ID:615542 +BMGC_DS15193,BMG_DS057074,PERIVENTRICULAR NODULAR HETEROTOPIA 6,UMLS ID:C3809872,,,,,periventricular nodular heterotopia 6,MONDO:0014240,,,,,,OMIM ID:615532 | OMIM ID:615544 +BMGC_DS15194,BMG_DS057075,,UMLS ID:C3809874,,,,,"leukemia, acute lymphoblastic, susceptibility to, 3",MONDO:0014241,,,,,,OMIM ID:615545 +BMGC_DS15195,BMG_DS057076,VAN MALDERGEM SYNDROME 2,UMLS ID:C3809875,,,,,van Maldergem syndrome 2,MONDO:0014242,,,Van Maldergem syndrome 2,DOID:0080586,,OMIM ID:612411 | OMIM ID:615546 +BMGC_DS15196,BMG_DS057077,Prader-Willi-like syndrome,UMLS ID:C3809877,Prader-Willi-like syndrome | Prader-Willi-like syndrome (disorder),SNOMEDCT ID:770680004,,,Prader-Willi-like syndrome,MONDO:0018354,,,Schaaf-Yang syndrome,DOID:0111715,, +BMGC_DS15197,BMG_DS057078,Hereditary sensory and autonomic neuropathy type 7,UMLS ID:C3809882,Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction | Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction | Hereditary sensory and autonomic neuropathy type 7 (disorder) | Hereditary sensory and autonomic neuropathy type 7 | Hereditary sensory and autonomic neuropathy type VII | HSAN7- hereditary sensory and autonomic neuropathy type 7,SNOMEDCT ID:783550006,,,hereditary sensory and autonomic neuropathy type 7,MONDO:0014244,,,,,,OMIM ID:615548 +BMGC_DS15198,BMG_DS057079,DIAMOND-BLACKFAN ANEMIA 12,UMLS ID:C3809888,,,,,Diamond-Blackfan anemia 12,MONDO:0014245,,,Diamond-Blackfan anemia 12,DOID:0111882,,OMIM ID:604174 | OMIM ID:615550 +BMGC_DS15199,BMG_DS057080,"EPISODIC PAIN SYNDROME, FAMILIAL, 2",UMLS ID:C3809893,,,,,"episodic pain syndrome, familial, 2",MONDO:0014246,,,familial episodic pain syndrome 2,DOID:0111730,,OMIM ID:615551 | OMIM ID:604427 +BMGC_DS15200,BMG_DS057081,"EPISODIC PAIN SYNDROME, FAMILIAL, 3",UMLS ID:C3809899,,,,,familial episodic pain syndrome with predominantly lower limb involvement,MONDO:0014247,,,familial episodic pain syndrome 3,DOID:0111731,,OMIM ID:615552 | OMIM ID:604385 +BMGC_DS15201,BMG_DS057082,"ARTHROGRYPOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES",UMLS ID:C3809910,,,,,autism spectrum disorder - epilepsy - arthrogryposis syndrome,MONDO:0014248,,,,,,OMIM ID:605632 | OMIM ID:615553 +BMGC_DS15202,BMG_DS057083,,UMLS ID:C3809918,,,,,multiple fibroadenoma of the breast,MONDO:0014249,,,,,,OMIM ID:615554 +BMGC_DS15203,BMG_DS057084,,UMLS ID:C3809925,,,,,"melioidosis, susceptibility to",MONDO:0014251,,,,,,OMIM ID:615557 +BMGC_DS15204,BMG_DS057085,"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III",UMLS ID:C3809928,,,,,"autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD",MONDO:8000024,,,autoimmune lymphoproliferative syndrome type 3,DOID:0110119,,OMIM ID:615559 | OMIM ID:176977 +BMGC_DS15205,BMG_DS057086,COMPLEMENT FACTOR B DEFICIENCY,UMLS ID:C3809950,,,,,complement factor b deficiency,MONDO:0014255,,,,,,OMIM ID:615561 | OMIM ID:138470 +BMGC_DS15206,BMG_DS057087,RETINITIS PIGMENTOSA 67,UMLS ID:C3809954,,,,,retinitis pigmentosa 67,MONDO:0014256,,,,,,OMIM ID:615565 | OMIM ID:604043 +BMGC_DS15207,BMG_DS057088,"NEPHROTIC SYNDROME, TYPE 9",UMLS ID:C3809965,,,,,"nephrotic syndrome, type 9",MONDO:0014257,,,nephrotic syndrome type 9,DOID:0080391,,OMIM ID:615573 | OMIM ID:615567 +BMGC_DS15208,BMG_DS057089,"Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)",UMLS ID:C3809971,"Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | Asparagine synthetase deficiency | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)",SNOMEDCT ID:782757004,,,congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome,MONDO:0014258,,,,,,OMIM ID:615574 +BMGC_DS15209,BMG_DS057090,"IMMUNODEFICIENCY, COMMON VARIABLE, 10",UMLS ID:C3809991,,,,,"immunodeficiency, common variable, 10",MONDO:0014260,,,common variable immunodeficiency 10,DOID:0081152,,OMIM ID:164012 | OMIM ID:615577 +BMGC_DS15210,BMG_DS057091,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18,UMLS ID:C3810001,,,,,growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,MONDO:0014261,,,combined oxidative phosphorylation deficiency 18,DOID:0111484,,OMIM ID:615564 | OMIM ID:615578 +BMGC_DS15211,BMG_DS057092,RIENHOFF SYNDROME,UMLS ID:C3810012,,,,,Rienhoff syndrome,MONDO:0014262,,,Loeys-Dietz syndrome 5,DOID:0070236,,OMIM ID:615582 +BMGC_DS15212,BMG_DS057093,8q24.3 microdeletion syndrome,UMLS ID:C3810023,8q24.3 microdeletion syndrome (disorder) | Verheij syndrome | Deletion 8q24.3 | Monosomy 8q24.3 | 8q24.3 microdeletion syndrome,SNOMEDCT ID:1229895008,,,8q24.3 microdeletion syndrome,MONDO:0014263,,,,,,OMIM ID:615583 +BMGC_DS15213,BMG_DS057094,ALZHEIMER DISEASE 18,UMLS ID:C3810041,,,,,Alzheimer disease 18,MONDO:0014265,,,Alzheimer's disease 18,DOID:0110050,,OMIM ID:615590 +BMGC_DS15214,BMG_DS057095,"MACULAR DEGENERATION, AGE-RELATED, 15",UMLS ID:C3810042,,,,,age related macular degeneration 15,MONDO:0014266,,,age related macular degeneration 15,DOID:0110027,,OMIM ID:615591 +BMGC_DS15215,BMG_DS057096,IMMUNODEFICIENCY 16,UMLS ID:C3810053,,,,,combined immunodeficiency due to OX40 deficiency,MONDO:0014268,,,immunodeficiency 16,DOID:0111935,,OMIM ID:600315 | OMIM ID:615593 +BMGC_DS15216,BMG_DS057097,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19,UMLS ID:C3810055,,,,,combined oxidative phosphorylation deficiency 19,MONDO:0014269,,,combined oxidative phosphorylation deficiency 19,DOID:0111476,,OMIM ID:613311 | OMIM ID:615595 +BMGC_DS15217,BMG_DS057098,Congenital disorder of glycosylation type 1w,UMLS ID:C3810062,STT3A-CDG (congenital disorder of glycosylation) | Congenital disorder of glycosylation type 1w (disorder) | Congenital disorder of glycosylation type Iw | Congenital disorder of glycosylation type 1w,SNOMEDCT ID:733111000,,,,,,,,,, +BMGC_DS15218,BMG_DS057099,Palmoplantar keratoderma Nagashima type,UMLS ID:C3810072,Palmoplantar keratoderma Nagashima type (disorder) | Palmoplantar keratoderma Nagashima type,SNOMEDCT ID:722205008,,,"palmoplantar keratoderma, Nagashima type",MONDO:0014272,,,Nagashima-type palmoplantar keratosis,DOID:0070555,,OMIM ID:615598 +BMGC_DS15219,BMG_DS057100,"NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY",UMLS ID:C3810080,,,,,microcephaly-thin corpus callosum-intellectual disability syndrome,MONDO:0014273,,,autosomal recessive intellectual developmental disorder 40,DOID:0081205,,OMIM ID:615599 | OMIM ID:604912 +BMGC_DS15220,BMG_DS057101,L-ferritin deficiency,UMLS ID:C3810090,L-ferritin deficiency (disorder) | L-ferritin deficiency | LFTD - L-ferritin deficiency,SNOMEDCT ID:1217208003,,,L-ferritin deficiency,MONDO:0014274,,,,,,OMIM ID:615604 +BMGC_DS15221,BMG_DS057103,FANCONI RENOTUBULAR SYNDROME 3,UMLS ID:C3810100,,,,,Fanconi renotubular syndrome 3,MONDO:0014275,,,Fanconi renotubular syndrome 3,DOID:0080759,,OMIM ID:607037 | OMIM ID:615605 +BMGC_DS15222,BMG_DS057104,IMMUNODEFICIENCY 17,UMLS ID:C3810107,,,,,combined immunodeficiency due to CD3gamma deficiency,MONDO:0014276,,,immunodeficiency 17,DOID:0111973,,OMIM ID:186740 | OMIM ID:615607 +BMGC_DS15223,BMG_DS057105,IMMUNODEFICIENCY 18,UMLS ID:C3810127,,,,,immunodeficiency 18,MONDO:0014278,,,immunodeficiency 18,DOID:0111971,,OMIM ID:186830 | OMIM ID:615615 +BMGC_DS15224,BMG_DS057106,"IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT",UMLS ID:C3810128,,,,,,,,,immunodeficiency 18,DOID:0111971,,OMIM ID:615615 | OMIM ID:186830 +BMGC_DS15225,BMG_DS057107,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13",UMLS ID:C3810138,,,,,arrhythmogenic right ventricular dysplasia 13,MONDO:0000908,,,,,,OMIM ID:607667 | OMIM ID:615616 +BMGC_DS15226,BMG_DS057108,IMMUNODEFICIENCY 19,UMLS ID:C3810147,,,,,immunodeficiency 19,MONDO:0014280,,,immunodeficiency 19,DOID:0111972,,OMIM ID:186790 | OMIM ID:615617 +BMGC_DS15227,BMG_DS057109,,UMLS ID:C3810156,,,,,"cholangiocarcinoma, susceptibility to",MONDO:0014281,,,,,,OMIM ID:615619 +BMGC_DS15228,BMG_DS057110,"DEAFNESS, AUTOSOMAL DOMINANT 56",UMLS ID:C3810170,,,,,autosomal dominant nonsyndromic hearing loss 56,MONDO:0014283,,,,,,OMIM ID:615629 | OMIM ID:187380 +BMGC_DS15229,BMG_DS057111,SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C3810175,,,,,short-rib thoracic dysplasia 10 with or without polydactyly,MONDO:0014284,,,,,,OMIM ID:607386 | OMIM ID:615630 +BMGC_DS15230,BMG_DS057113,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib",UMLS ID:C3810185,,,,,congenital dyserythropoietic anemia type type 1B,MONDO:0014285,,,,,,OMIM ID:615626 | OMIM ID:615631 +BMGC_DS15231,BMG_DS057114,"NEUROPATHY, HEREDITARY SENSORY, TYPE IF",UMLS ID:C3810194,,,,,"neuropathy, hereditary sensory, type 1F",MONDO:0014286,,,hereditary sensory neuropathy type 1F,DOID:0070154,,OMIM ID:609369 | OMIM ID:615632 +BMGC_DS15232,BMG_DS057115,SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C3810200,,,,,short-rib thoracic dysplasia 11 with or without polydactyly,MONDO:0014287,,,,,,OMIM ID:615633 | OMIM ID:613363 +BMGC_DS15233,BMG_DS057116,JOUBERT SYNDROME 21,UMLS ID:C3810212,,,,,Joubert syndrome 21,MONDO:0014288,,,Joubert syndrome 21,DOID:0110990,,OMIM ID:615636 | OMIM ID:611654 +BMGC_DS15234,BMG_DS057117,,UMLS ID:C3810225,,,,,macrocephaly-developmental delay syndrome,MONDO:0014289,,,,,,OMIM ID:615637 +BMGC_DS15235,BMG_DS057118,WARBURG MICRO SYNDROME 4,UMLS ID:C3810265,,,,,Warburg micro syndrome 4,MONDO:0014296,,,,,,OMIM ID:611663 | OMIM ID:615663 +BMGC_DS15236,BMG_DS057119,JOUBERT SYNDROME 22,UMLS ID:C3810278,,,,,Joubert syndrome 22,MONDO:0014297,,,Joubert syndrome 22,DOID:0110991,,OMIM ID:602676 | OMIM ID:615665 +BMGC_DS15237,BMG_DS057120,CHROMOSOME 5q12 DELETION SYNDROME,UMLS ID:C3810282,,,,,chromosome 5q12 deletion syndrome,MONDO:0014298,,,chromosome 5q12 deletion syndrome,DOID:0060421,,OMIM ID:615668 +BMGC_DS15238,BMG_DS057121,SCHWANNOMATOSIS 2,UMLS ID:C3810283,,,,,LZTR1-related schwannomatosis,MONDO:0014299,,,,,,OMIM ID:615670 | OMIM ID:600574 +BMGC_DS15239,BMG_DS057122,MYOPATHY WITH EXTRAPYRAMIDAL SIGNS,UMLS ID:C3810285,,,,,proximal myopathy with extrapyramidal signs,MONDO:0014300,,,myopathy with extrapyramidal signs,DOID:0111335,,OMIM ID:615673 | OMIM ID:605084 +BMGC_DS15240,BMG_DS057123,DOWLING-DEGOS DISEASE 3,UMLS ID:C3810286,,,,,dowling-degos disease 3,MONDO:0014301,,,,,,OMIM ID:615674 +BMGC_DS15241,BMG_DS057124,"SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE",UMLS ID:C3810289,,,,,hereditary spastic paraplegia 64,MONDO:0014303,,,,,,OMIM ID:601752 | OMIM ID:615683 +BMGC_DS15242,BMG_DS057125,"SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE",UMLS ID:C3810294,,,,,hereditary spastic paraplegia 61,MONDO:0014304,,,,,,OMIM ID:607669 | OMIM ID:615685 +BMGC_DS15243,BMG_DS057126,"SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",UMLS ID:C3810295,,,,,hereditary spastic paraplegia 63,MONDO:0014305,,,,,,OMIM ID:615686 | OMIM ID:102771 +BMGC_DS15244,BMG_DS057127,DOWLING-DEGOS DISEASE 4,UMLS ID:C3810313,,,,,Dowling-Degos disease 4,MONDO:0014307,,,,,,OMIM ID:615618 | OMIM ID:615696 +BMGC_DS15245,BMG_DS057128,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 6",UMLS ID:C3810320,,,,,familial temporal lobe epilepsy 6,MONDO:0014308,,,familial temporal lobe epilepsy 6,DOID:0060749,,OMIM ID:615697 +BMGC_DS15246,BMG_DS057129,MORBID OBESITY AND SPERMATOGENIC FAILURE,UMLS ID:C3810324,,,,,obesity due to CEP19 deficiency,MONDO:0014309,,,,,,OMIM ID:615586 | OMIM ID:615703 +BMGC_DS15247,BMG_DS057130,"POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS",UMLS ID:C3810325,,,,,hereditary sclerosing poikiloderma with tendon and pulmonary involvement,MONDO:0014310,,,,,,OMIM ID:615584 | OMIM ID:615704 +BMGC_DS15248,BMG_DS057131,"Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)",UMLS ID:C3810326,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency | Autosomal recessive spinocerebellar ataxia type 15 | SCAR15 - autosomal recessive spinocerebellar ataxia type 15 | Salih ataxia | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency",SNOMEDCT ID:782721009,,,autosomal recessive spinocerebellar ataxia 15,MONDO:0014311,,,,,,OMIM ID:615705 +BMGC_DS15249,BMG_DS057132,AURICULOCONDYLAR SYNDROME 3,UMLS ID:C3810332,,,,,auriculocondylar syndrome 3,MONDO:0014312,,,,,,OMIM ID:131240 | OMIM ID:615706 +BMGC_DS15250,BMG_DS057133,IMMUNODEFICIENCY 20,UMLS ID:C3810342,,,,,autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,MONDO:0014313,,,immunodeficiency 20,DOID:0111941,,OMIM ID:146740 | OMIM ID:615707 +BMGC_DS15251,BMG_DS057134,SACRAL AGENESIS WITH VERTEBRAL ANOMALIES,UMLS ID:C3810343,,,,,sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,MONDO:0014314,,,,,,OMIM ID:601397 | OMIM ID:615709 +BMGC_DS15252,BMG_DS057135,ALZHEIMER DISEASE 19,UMLS ID:C3810349,,,,,Alzheimer disease 19,MONDO:0014316,,,Alzheimer's disease 19,DOID:0110051,,OMIM ID:615711 +BMGC_DS15253,BMG_DS057136,BONE MARROW FAILURE SYNDROME 2,UMLS ID:C3810350,,,,,pancytopenia-developmental delay syndrome,MONDO:0014317,,,,,,OMIM ID:615715 | OMIM ID:615667 +BMGC_DS15254,BMG_DS057137,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4,UMLS ID:C3810354,,,,,hyperphosphatasia with intellectual disability syndrome 4,MONDO:0014318,,,hyperphosphatasia with impaired intellectual development syndrome 4,DOID:0070436,,OMIM ID:611801 | OMIM ID:615716 +BMGC_DS15255,BMG_DS057138,RENAL HYPODYSPLASIA/APLASIA 2,UMLS ID:C3810359,,,,,renal hypodysplasia/aplasia 2,MONDO:0014319,,,,,,OMIM ID:605558 | OMIM ID:615721 +BMGC_DS15256,BMG_DS057139,"Optic atrophy, intellectual disability syndrome",UMLS ID:C3810363,"Bosch Boonstra Schaaf optic atrophy syndrome | BBSOAS - Bosch Boonstra Schaaf optic atrophy syndrome | Optic atrophy, intellectual disability syndrome (disorder) | Optic atrophy, intellectual disability syndrome",SNOMEDCT ID:770723007,,,Bosch-Boonstra-Schaaf optic atrophy syndrome,MONDO:0014320,,,,,,OMIM ID:615722 +BMGC_DS15257,BMG_DS057141,PREMATURE OVARIAN FAILURE 8,UMLS ID:C3810367,,,,,premature ovarian failure 8,MONDO:0014321,,,primary ovarian insufficiency 8,DOID:0080865,,OMIM ID:608489 | OMIM ID:615723 +BMGC_DS15258,BMG_DS057142,PREMATURE OVARIAN FAILURE 9,UMLS ID:C3810376,,,,,premature ovarian failure 9,MONDO:0014322,,,primary ovarian insufficiency 9,DOID:0080866,,OMIM ID:615684 | OMIM ID:615724 +BMGC_DS15259,BMG_DS057143,RETINITIS PIGMENTOSA 68,UMLS ID:C3810380,,,,,retinitis pigmentosa 68,MONDO:0014323,,,,,,OMIM ID:615725 | OMIM ID:615720 +BMGC_DS15260,BMG_DS057144,NEMALINE MYOPATHY 9,UMLS ID:C3810384,,,,,nemaline myopathy 9,MONDO:0014326,,,nemaline myopathy 9,DOID:0110929,,OMIM ID:607701 | OMIM ID:615731 +BMGC_DS15261,BMG_DS057145,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE",UMLS ID:C3810394,,,,,"palmoplantar keratoderma, nonepidermolytic, focal or diffuse",MONDO:0014327,,,focal or diffuse nonepidermolytic palmoplantar keratoderma,DOID:0111710,,OMIM ID:615735 +BMGC_DS15262,BMG_DS057146,,UMLS ID:C3810400,,,,,"developmental and epileptic encephalopathy, 19",MONDO:0014328,,,,,,OMIM ID:615744 +BMGC_DS15263,BMG_DS057147,ATRIAL STANDSTILL 2,UMLS ID:C3810401,,,,,atrial standstill 2,MONDO:0014329,,,atrial standstill 2,DOID:0080663,,OMIM ID:615745 | OMIM ID:108780 +BMGC_DS15264,BMG_DS057148,"ECULIZUMAB, POOR RESPONSE TO",UMLS ID:C3810402,,,,,,,,,,,,OMIM ID:615749 | OMIM ID:120900 +BMGC_DS15265,BMG_DS057149,MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA,UMLS ID:C3810403,,,,,Moyamoya disease with early-onset achalasia,MONDO:0014331,,,,,,OMIM ID:615750 +BMGC_DS15266,BMG_DS057150,"CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO",UMLS ID:C3810404,,,,,hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,MONDO:0014332,,,,,,OMIM ID:615751 | OMIM ID:114761 +BMGC_DS15267,BMG_DS057151,"POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE",UMLS ID:C3810405,,,,,"polymicrogyria, bilateral perisylvian, autosomal recessive",MONDO:0014333,,,bilateral perisylvian polymicrogyria,DOID:0080924,,OMIM ID:615752 +BMGC_DS15268,BMG_DS057152,,UMLS ID:C3810406,,,,,intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,MONDO:0014336,,,,,,OMIM ID:615761 +BMGC_DS15269,BMG_DS057153,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5",UMLS ID:C3810407,,,,,complex cortical dysplasia with other brain malformations 5,MONDO:0014337,,,complex cortical dysplasia with other brain malformations 5,DOID:0090135,,OMIM ID:615763 | OMIM ID:615101 +BMGC_DS15270,BMG_DS057154,Low frequency sensorineural hearing loss,UMLS ID:C3810445,Low frequency sensorineural hearing loss | Low frequency sensorineural hearing loss (disorder) | Low tone sensorineural hearing loss,SNOMEDCT ID:1268466004,,,,,,,,,, +BMGC_DS15271,BMG_DS057168,Mycoplasma pneumoniae Infection,UMLS ID:C3824874,,,,,,,"Pneumonia, Mycoplasma",MeSH ID:D011019,Mycoplasma pneumoniae pneumonia,DOID:13276,, +BMGC_DS15272,BMG_DS057182,Acute bacterial otitis externa,UMLS ID:C3831782,Acute bacterial otitis externa (disorder) | Acute bacterial otitis externa | Tank ear | Beach ear | Acute swimmer's ear | Acute swimmer's ear (disorder) | Acute bacterial otitis externa | Acute bacterial inflammation of external ear | Acute diffuse otitis externa | Acute bacterial inflammation of external ear | Acute swimmers' ear | Beach ear | Tank ear | Acute diffuse otitis externa | Acute bacterial otitis externa | Acute swimmer's ear | Acute bacterial inflammation of external ear (disorder),SNOMEDCT ID:700220003 | SNOMEDCT ID:194201001 | SNOMEDCT ID:39149004,,,,,,,beach ear,DOID:10518,, +BMGC_DS15273,BMG_DS057187,"MECKEL SYNDROME, TYPE 8",UMLS ID:C3836857,,,,,"Meckel syndrome, type 8",MONDO:0013482,,,,,,OMIM ID:613885 | OMIM ID:613846 +BMGC_DS15274,BMG_DS057188,"HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO",UMLS ID:C3837651,,,,,,,,,,,,OMIM ID:605325 | OMIM ID:102680 +BMGC_DS15275,BMG_DS057190,"Diabetes Mellitus, Ketosis-Prone",UMLS ID:C3837958,,,,,"diabetes mellitus, ketosis-prone",MONDO:0100180,"Diabetes Mellitus, Type 1",MeSH ID:D003922,,,,OMIM ID:612227 +BMGC_DS15276,BMG_DS057191,,UMLS ID:C3838076,,,,,"pulmonary disease, chronic obstructive, susceptibility to",MONDO:0100167,,,,,, +BMGC_DS15277,BMG_DS057201,Familial hyperaldosteronism type 1,UMLS ID:C3838731,Familial hyperaldosteronism type 1 | Familial hyperaldosteronism type 1 (disorder) | Glucocorticoid-sensitive hypertension | Glucocorticoid-suppressible hyperaldosteronism | Glucocorticoid-remediable aldosteronism | Familial hyperaldosteronism type I | Dexamethasone-sensitive hypertension | GRA - glucocorticoid-remediable aldosteronism,SNOMEDCT ID:703232003,,,glucocorticoid-remediable aldosteronism,MONDO:0007080,,,glucocorticoid-remediable aldosteronism,DOID:14080,,OMIM ID:103900 +BMGC_DS15278,BMG_DS057208,Familial hyperaldosteronism type 3,UMLS ID:C3838758,Familial hyperaldosteronism type 3 (disorder) | Familial hyperaldosteronism type 3,SNOMEDCT ID:703234002,,,familial hyperaldosteronism type III,MONDO:0013359,,,,,,OMIM ID:613677 +BMGC_DS15279,BMG_DS057238,Bartter syndrome type 4,UMLS ID:C3838860,Bartter syndrome type 4 | Bartter syndrome type 4 (disorder) | Bartter's syndrome type 4,SNOMEDCT ID:700112007,,,Bartter syndrome type 4,MONDO:0019524,,,,,, +BMGC_DS15280,BMG_DS057244,,UMLS ID:C3838883,,,,,phakomatosis cesioflammea,MONDO:0019325,,,,,, +BMGC_DS15281,BMG_DS057317,Cerebrofacial arteriovenous metameric syndrome,UMLS ID:C3839265,Cerebrofacial arteriovenous metameric syndrome | Cerebrofacial arteriovenous metameric syndrome (disorder),SNOMEDCT ID:703266007,,,cerebrofacial arteriovenous metameric syndrome,MONDO:0015405,,,,,, +BMGC_DS15282,BMG_DS057323,,UMLS ID:C3839296,,,,,phakomatosis cesiomarmorata,MONDO:0019326,,,,,, +BMGC_DS15283,BMG_DS057422,,UMLS ID:C3839745,,,,,infiltrating nipple syringomatous adenoma,MONDO:0004376,,,infiltrating nipple syringomatous adenoma,DOID:7839,, +BMGC_DS15284,BMG_DS057442,,UMLS ID:C3839822,,,,,DICER1-related tumor predisposition,MONDO:0100216,,,,,, +BMGC_DS15285,BMG_DS057455,Familial cerebral saccular aneurysm,UMLS ID:C3839866,Familial cerebral saccular aneurysm (disorder) | Familial cerebral saccular aneurysm | Familial intracranial saccular aneurysm | Familial berry aneurysm,SNOMEDCT ID:703226008,,,intracranial berry aneurysm,MONDO:0016483,,,,,, +BMGC_DS15286,BMG_DS057468,,UMLS ID:C3839921,,,,,diffuse lymphatic malformation,MONDO:0015408,,,,,, +BMGC_DS15287,BMG_DS057553,,UMLS ID:C3840223,,,,,rete ovarii adenocarcinoma,MONDO:0003191,,,rete ovarii adenocarcinoma,DOID:4894,, +BMGC_DS15288,BMG_DS057557,,UMLS ID:C3840252,,,,,pseudomyogenic hemangioendothelioma,MONDO:0975754,,,,,, +BMGC_DS15289,BMG_DS057562,Beta plus thalassemia,UMLS ID:C3841475,Beta plus thalassemia | Beta plus thalassaemia | Beta plus thalassemia (disorder) | beta plus thalassaemia | beta plus thalassemia,SNOMEDCT ID:79592006,,,,,,,,,, +BMGC_DS15290,BMG_DS057566,Acute Mesenteric Arterial Embolus,UMLS ID:C3852984,,,,,,,Mesenteric Ischemia,MeSH ID:D065666,,,, +BMGC_DS15291,BMG_DS057567,Occlusive Mesenteric Arterial Ischemia,UMLS ID:C3852985,,,,,,,Mesenteric Ischemia,MeSH ID:D065666,,,, +BMGC_DS15292,BMG_DS057568,Nonocclusive Mesenteric Ischemia,UMLS ID:C3852986,,,,,,,Mesenteric Ischemia,MeSH ID:D065666,,,, +BMGC_DS15293,BMG_DS057569,Acute Mesenteric Arterial Thrombosis,UMLS ID:C3852987,,,,,,,Mesenteric Ischemia,MeSH ID:D065666,,,, +BMGC_DS15294,BMG_DS057571,Severe Congenital Microcephaly,UMLS ID:C3853041,,,,,,,Microcephaly,MeSH ID:D008831,,,, +BMGC_DS15295,BMG_DS057578,Erosive Duodenitis,UMLS ID:C3853541,,,,,,,Duodenitis,MeSH ID:D004382,,,, +BMGC_DS15296,BMG_DS057580,Neonatal Alloimmune Thrombocytopenia,UMLS ID:C3853779,,,,,,,"Thrombocytopenia, Neonatal Alloimmune",MeSH ID:D054098,,,, +BMGC_DS15297,BMG_DS057584,Lipodystrophy due to Human immunodeficiency virus infection and antiretroviral therapy,UMLS ID:C3854116,Lipodystrophy due to HIV and antiretroviral therapy | Lipodystrophy due to Human immunodeficiency virus infection and antiretroviral therapy | Lipodystrophy associated with Human immunodeficiency virus infection | Lipodystrophy due to Human immunodeficiency virus infection and antiretroviral therapy (disorder),SNOMEDCT ID:705149003,,,,,,,,,, +BMGC_DS15298,BMG_DS057586,,UMLS ID:C3854181,,,,,,,,,linear nevus sebaceous syndrome,DOID:0111530,, +BMGC_DS15299,BMG_DS057595,Morvan syndrome,UMLS ID:C3854373,"Morvan syndrome (disorder) | Morvan syndrome | Limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome | Morvan fibrillary chorea",SNOMEDCT ID:763803004,,,Morvan syndrome,MONDO:0008718,,,,,, +BMGC_DS15300,BMG_DS057597,Hyperferritinemia,UMLS ID:C3854388,,,,,isolated hyperferritinemia,MONDO:0958237,Hyperferritinemia,MeSH ID:D000085583,,,,OMIM ID:620729 | OMIM ID:MTHU070680 +BMGC_DS15301,BMG_DS057607,,UMLS ID:C3854603,,,,,fetal and neonatal alloimmune thrombocytopenia,MONDO:0019415,,,,,, +BMGC_DS15302,BMG_DS057716,Recurrent candidiasis of vagina,UMLS ID:C3872606,Recurrent candidiasis of vagina | Recurrent candidiasis of vagina (disorder),SNOMEDCT ID:708126004,,,,,,,,,, +BMGC_DS15303,BMG_DS057727,Pulmonary emphysema co-occurrent with fibrosis of lung,UMLS ID:C3872815,CPFE - combined pulmonary fibrosis and emphysema | Combined pulmonary fibrosis and emphysema syndrome | Pulmonary emphysema co-occurrent with fibrosis of lung (disorder) | Pulmonary emphysema co-occurrent with fibrosis of lung,SNOMEDCT ID:708030004,,,combined pulmonary fibrosis-emphysema syndrome,MONDO:0017591,,,,,, +BMGC_DS15304,BMG_DS057831,Dermatophagoides pteronyssinus Allergy,UMLS ID:C3873561,,,,,,,Dust Mite Allergy,MeSH ID:D000092542,,,, +BMGC_DS15305,BMG_DS057850,,UMLS ID:C3874315,,,,,second branchial cleft anomaly,MONDO:0007233,,,,,,OMIM ID:113600 +BMGC_DS15306,BMG_DS057861,Therapeutic opioid induced constipation,UMLS ID:C3874358,Therapeutic opioid induced constipation (disorder) | Therapeutic opioid induced constipation,SNOMEDCT ID:136801000119102,,,,,,,,,, +BMGC_DS15307,BMG_DS057873,Intestinal hemorrhage due to angiodysplasia of intestine,UMLS ID:C3874401,Intestinal haemorrhage due to angiodysplasia of intestine | Intestinal hemorrhage due to angiodysplasia of intestine | Intestinal hemorrhage due to angiodysplasia of intestine (disorder),SNOMEDCT ID:29731000119103,,,,,,,,,, +BMGC_DS15308,BMG_DS057934,Familial hyperalphalipoproteinemia,UMLS ID:C3875011,Familial hyperalphalipoproteinemia | Familial hyperalphalipoproteinemia (disorder) | Familial hyperalphalipoproteinaemia,SNOMEDCT ID:15771000119109,,,cholesterol-ester transfer protein deficiency,MONDO:0007744,,,,,,OMIM ID:143470 +BMGC_DS15309,BMG_DS057996,Complex dyslipidemia,UMLS ID:C3875286,Complex dyslipidemia | Complex dyslipidemia (disorder),SNOMEDCT ID:109041000119107,,,,,,,,,, +BMGC_DS15310,BMG_DS058001,Inflammatory dermatosis,UMLS ID:C3875321,Inflammatory dermatosis (disorder) | Inflammatory dermatosis | Dermatitis,SNOMEDCT ID:703938007,,,dermatitis,MONDO:0002406,,,,,, +BMGC_DS15311,BMG_DS058022,Dermatophagoides farinae Allergy,UMLS ID:C3875472,,,,,,,Dust Mite Allergy,MeSH ID:D000092542,,,, +BMGC_DS15312,BMG_DS058038,"Neutrophil Chemotactic Response, Abnormal",UMLS ID:C3882647,,,,,,,,MeSH ID:C563515,,,, +BMGC_DS15313,BMG_DS058041,,UMLS ID:C3887485,,,,,"migraine with or without aura, susceptibility to, 1",MONDO:0008000,,,,,,OMIM ID:157300 +BMGC_DS15314,BMG_DS058042,Postaxial polydactyly type A,UMLS ID:C3887487,Postaxial polydactyly type A (disorder) | Postaxial polydactyly type A,SNOMEDCT ID:715704001,,,postaxial polydactyly type A,MONDO:0019673,,,,,, +BMGC_DS15315,BMG_DS058045,"ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",UMLS ID:C3887494,,,,,"ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive",MONDO:0009147,,,ectodermal dysplasia 10B,DOID:0111665,,OMIM ID:224900 | OMIM ID:604095 +BMGC_DS15316,BMG_DS058047,,UMLS ID:C3887497,,,,,"bifid nose, autosomal recessive",MONDO:0008866,,,,,,OMIM ID:210400 +BMGC_DS15317,BMG_DS058048,Renal cyst,UMLS ID:C3887499,Cyst of kidney (disorder) | Cyst of kidney | Renal cyst,SNOMEDCT ID:722223000,,,cystic kidney disease,MONDO:0002473,,,,,,OMIM ID:MTHU019013 +BMGC_DS15318,BMG_DS058049,,UMLS ID:C3887501,,,,,"lipodystrophy, partial, acquired, susceptibility to",MONDO:0100476,,,,,,OMIM ID:608709 +BMGC_DS15319,BMG_DS058050,Hyperkinesia,UMLS ID:C3887506,Hyperkinesia | Hyperkinesis | Increased purposeful goal-directed activity | Hyperactive behaviour | Hyperactive behavior | HA - Hyperactivity | Hyperactive behavior (finding),SNOMEDCT ID:44548000,,,,,Hyperkinesis,MeSH ID:D006948,,,,OMIM ID:MTHU026101 +BMGC_DS15320,BMG_DS058052,Very long chain acyl-CoA dehydrogenase deficiency,UMLS ID:C3887523,Very long chain acyl-CoA dehydrogenase deficiency | VLCAD - Very long chain acyl-CoA dehydrogenase deficiency | Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | Very long chain acyl-coenzyme A dehydrogenase deficiency,SNOMEDCT ID:237997005,,,very long chain acyl-CoA dehydrogenase deficiency,MONDO:0008723,,,,,,OMIM ID:201475 +BMGC_DS15321,BMG_DS058053,"Keratosis Follicularis Spinulosa Decalvans, X-Linked",UMLS ID:C3887525,,,,,"keratosis follicularis spinulosa decalvans, X-linked",MONDO:0010637,,MeSH ID:C536159,,,,OMIM ID:308800 +BMGC_DS15322,BMG_DS058054,,UMLS ID:C3887526,,,,,osteoarthritis susceptibility 2,MONDO:0007704,,,,,,OMIM ID:140600 +BMGC_DS15323,BMG_DS058055,Keratoglobus,UMLS ID:C3887531,Keratoglobus (disorder) | Keratoglobus | Cornea globular,SNOMEDCT ID:388840007,,,,,Keratoconus,MeSH ID:D007640,,,,OMIM ID:MTHU012982 +BMGC_DS15324,BMG_DS058058,Hemophagocytic Syndrome,UMLS ID:C3887558,,,,,hemophagocytic syndrome,MONDO:0015540,"Lymphohistiocytosis, Hemophagocytic",MeSH ID:D051359,,,, +BMGC_DS15325,BMG_DS058062,"HYDROCEPHALUS, CONGENITAL, 1",UMLS ID:C3887608,,,,,"hydrocephalus, nonsyndromic, autosomal recessive 1",MONDO:0009360,,,,,,OMIM ID:236600 | OMIM ID:611204 +BMGC_DS15326,BMG_DS058063,"Dandy-Walker Syndrome, Familial",UMLS ID:C3887633,,,,,,,Dandy-Walker Syndrome,MeSH ID:D003616,,,, +BMGC_DS15327,BMG_DS058065,Autoimmune gastritis,UMLS ID:C3887639,Atrophic gastritis | Chronic atrophic gastritis | Gastric atrophy | AG - Atrophic gastritis | Autoimmune gastritis | CAG - Chronic atrophic gastritis | Atrophic gastritis (disorder),SNOMEDCT ID:84568007,,,autoimmune gastritis,MONDO:0031014,,,,,, +BMGC_DS15328,BMG_DS058067,Job Syndrome,UMLS ID:C3887645,,,,,hyper-IgE syndrome,MONDO:0018037,Job Syndrome,MeSH ID:D007589,,,, +BMGC_DS15329,BMG_DS058068,Adult Rickets,UMLS ID:C3887650,,,,,,,Osteomalacia,MeSH ID:D010018,,,, +BMGC_DS15330,BMG_DS058070,"POLYARTERITIS NODOSA, CHILDHOOD-ONSET",UMLS ID:C3887654,,,,,vasculitis due to ADA2 deficiency,MONDO:0014306,,,,,,OMIM ID:615688 +BMGC_DS15331,BMG_DS058071,"PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",UMLS ID:C3887658,,,,,pulmonary venoocclusive disease 1,MONDO:0020713,,,pulmonary venoocclusive disease 1,DOID:0081268,,OMIM ID:265450 +BMGC_DS15332,BMG_DS058074,Infection by larvae of Trichinella spiralis,UMLS ID:C3887668,Infection by larvae of Trichinella spiralis | Trichinosis caused by Trichinella spiralis | Trichinellosis caused by Trichinella spiralis | Trichinelliasis caused by Trichinella spiralis | Trichiniasis caused by Trichinella spiralis | Infection caused by larvae of Trichinella spiralis (disorder) | Infection caused by larvae of Trichinella spiralis,SNOMEDCT ID:88264003,,,Trichinella spiralis infectious disease,MONDO:0042458,,,,,, +BMGC_DS15333,BMG_DS058079,,UMLS ID:C3887709,,,,,optic nerve disorder,MONDO:0002135,,,,,, +BMGC_DS15334,BMG_DS058080,WILMS TUMOR 2,UMLS ID:C3887743,,,,,Wilms tumor 2,MONDO:0008680,,,,,,OMIM ID:616186 | OMIM ID:605982 | OMIM ID:194071 | OMIM ID:194071 +BMGC_DS15335,BMG_DS058082,,UMLS ID:C3887876,,,,,osteoarthritis susceptibility 1,MONDO:0008143,,,,,,OMIM ID:165720 +BMGC_DS15336,BMG_DS058085,Aortic Valve Disease 1,UMLS ID:C3887892,,,,,aortic valve disease 1,MONDO:0024523,Bicuspid Aortic Valve Disease,MeSH ID:D000082882,bicuspid aortic valve disease,DOID:0080332,,OMIM ID:109730 +BMGC_DS15337,BMG_DS058087,Enteritis due to Yersinia enterocolitica,UMLS ID:C3887894,Enteritis caused by Yersinia enterocolitica | Enteritis caused by Yersinia enterocolitica (disorder) | Infection by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica | Infection caused by Yersinia enterocolitica (disorder),SNOMEDCT ID:711167005 | SNOMEDCT ID:80960004,Intestinal infections due to Yersinia enterocolitica,ICD11 ID:1A05,,,,,,,ICD10 ID:A04.6, +BMGC_DS15338,BMG_DS058091,"CATARACT 32, MULTIPLE TYPES",UMLS ID:C3887926,,,,,cataract 32 multiple types,MONDO:0007278,,,,,,OMIM ID:115650 +BMGC_DS15339,BMG_DS058092,"DEAFNESS, AUTOSOMAL DOMINANT 27",UMLS ID:C3887929,,,,,autosomal dominant nonsyndromic hearing loss 27,MONDO:0012902,,,,,,OMIM ID:600571 | OMIM ID:612431 +BMGC_DS15340,BMG_DS058093,"DEAFNESS, AUTOSOMAL DOMINANT 33",UMLS ID:C3887930,,,,,autosomal dominant nonsyndromic hearing loss 33,MONDO:0013632,,,,,,OMIM ID:614211 +BMGC_DS15341,BMG_DS058094,"MYOCLONIC EPILEPSY, JUVENILE, 2",UMLS ID:C3887932,,,,,"myoclonic epilepsy, juvenile, 2",MONDO:0800330,,,idiopathic generalized epilepsy 7,DOID:0111321,,OMIM ID:604827 +BMGC_DS15342,BMG_DS058095,"CONE DYSTROPHY 5, X-LINKED",UMLS ID:C3887937,,,,,"cone dystrophy 5, X-linked",MONDO:0800319,,,blue cone monochromacy,DOID:0050679,,OMIM ID:300821 | OMIM ID:303700 +BMGC_DS15343,BMG_DS058096,Deuteranomaly,UMLS ID:C3887938,Deutan defect | Deuteranomaly | Deuteranopia | Deutan defect (disorder),SNOMEDCT ID:77479002,,,,,,,,,ICD10 ID:H53.53, +BMGC_DS15344,BMG_DS058097,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 41",UMLS ID:C3887939,,,,,"intellectual disability, X-linked 41",MONDO:0010451,,,non-syndromic X-linked intellectual disability 41,DOID:0112058,,OMIM ID:300849 | OMIM ID:300104 +BMGC_DS15345,BMG_DS058098,"GLAUCOMA 1, OPEN ANGLE, B",UMLS ID:C3887942,,,,,,,,,,,,OMIM ID:606689 +BMGC_DS15346,BMG_DS058100,POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,UMLS ID:C3887964,,,,,polycystic kidney disease 3 with or without polycystic liver disease,MONDO:0010916,,,polycystic kidney disease 3,DOID:0110860,,OMIM ID:600666 | OMIM ID:104160 +BMGC_DS15347,BMG_DS058101,"RETINAL DYSPLASIA, PRIMARY",UMLS ID:C3887971,,,,,,,,,,,,OMIM ID:312550 +BMGC_DS15348,BMG_DS058102,Protanomaly,UMLS ID:C3887980,Protan defect | Protanomaly | Protanopia | Protan defect (disorder),SNOMEDCT ID:51445007,,,,,,,,,ICD10 ID:H53.54, +BMGC_DS15349,BMG_DS058104,RETINITIS PIGMENTOSA 24,UMLS ID:C3887982,,,,,retinitis pigmentosa 24,MONDO:0010259,,,,,,OMIM ID:300155 +BMGC_DS15350,BMG_DS058105,SPINOCEREBELLAR ATAXIA 9,UMLS ID:C3887996,,,,,cerebellar ataxia type 9,MONDO:0013029,,,cerebellar ataxia type 9,DOID:0111747,,OMIM ID:612876 +BMGC_DS15351,BMG_DS058106,HERMANSKY-PUDLAK SYNDROME 3,UMLS ID:C3888001,,,,,Hermansky-Pudlak syndrome 3,MONDO:0013555,,,Hermansky-Pudlak syndrome 3,DOID:0060541,,OMIM ID:614072 | OMIM ID:606118 +BMGC_DS15352,BMG_DS058107,"PULMONARY HYPERTENSION, PRIMARY, 2",UMLS ID:C3888002,,,,,"pulmonary hypertension, primary, 2",MONDO:0014134,,,,,,OMIM ID:615342 | OMIM ID:603295 +BMGC_DS15353,BMG_DS058108,HERMANSKY-PUDLAK SYNDROME 5,UMLS ID:C3888004,,,,,Hermansky-Pudlak syndrome 5,MONDO:0013557,,,Hermansky-Pudlak syndrome 5,DOID:0060543,,OMIM ID:614074 | OMIM ID:607521 +BMGC_DS15354,BMG_DS058109,HERMANSKY-PUDLAK SYNDROME 6,UMLS ID:C3888007,,,,,Hermansky-Pudlak syndrome 6,MONDO:0013558,,,Hermansky-Pudlak syndrome 6,DOID:0060544,,OMIM ID:614075 | OMIM ID:607522 +BMGC_DS15355,BMG_DS058110,"MACULAR DYSTROPHY, RETINAL, 3",UMLS ID:C3888009,,,,,"macular dystrophy, retinal, 3",MONDO:0012139,,,retinal macular dystrophy 3,DOID:0070440,,OMIM ID:608850 +BMGC_DS15356,BMG_DS058112,Congenital Hyperinsulinism,UMLS ID:C3888018,,,,,familial hyperinsulinism,MONDO:0017182,Congenital Hyperinsulinism,MeSH ID:D044903,,,, +BMGC_DS15357,BMG_DS058113,Cacosmia,UMLS ID:C3888024,,,,,,,Olfaction Disorders,MeSH ID:D000857,,,, +BMGC_DS15358,BMG_DS058114,HERMANSKY-PUDLAK SYNDROME 8,UMLS ID:C3888026,,,,,Hermansky-Pudlak syndrome 8,MONDO:0013560,,,Hermansky-Pudlak syndrome 8,DOID:0060546,,OMIM ID:609762 | OMIM ID:614077 +BMGC_DS15359,BMG_DS058116,"DEAFNESS, AUTOSOMAL DOMINANT 54",UMLS ID:C3888029,,,,,autosomal dominant nonsyndromic hearing loss 54,MONDO:0014291,,,,,,OMIM ID:615649 +BMGC_DS15360,BMG_DS058117,"DEAFNESS, AUTOSOMAL RECESSIVE 45",UMLS ID:C3888030,,,,,autosomal recessive nonsyndromic hearing loss 45,MONDO:0012903,,,,,,OMIM ID:612433 +BMGC_DS15361,BMG_DS058118,SPINOCEREBELLAR ATAXIA 35,UMLS ID:C3888031,,,,,spinocerebellar ataxia type 35,MONDO:0013485,,,spinocerebellar ataxia type 35,DOID:0050982,,OMIM ID:613900 | OMIM ID:613908 +BMGC_DS15362,BMG_DS058120,"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",UMLS ID:C3888065,,,,,"ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant",MONDO:0007509,,,ectodermal dysplasia 10A,DOID:0111663,,OMIM ID:129490 +BMGC_DS15363,BMG_DS058121,"DEAFNESS, Y-LINKED 1",UMLS ID:C3888076,,,,,"hearing loss, Y-linked 1",MONDO:0010764,,,Y-linked deafness 1,DOID:0111759,,OMIM ID:400043 +BMGC_DS15364,BMG_DS058122,"Charcot-Marie-Tooth disease, Type 2I",UMLS ID:C3888087,,,,,Charcot-Marie-Tooth disease type 2I,MONDO:0011889,,MeSH ID:C535416,Charcot-Marie-Tooth disease type 2I,DOID:0110158,,OMIM ID:607677 +BMGC_DS15365,BMG_DS058123,SMITH-MCCORT DYSPLASIA 1,UMLS ID:C3888088,,,,,Smith-McCort dysplasia 1,MONDO:0011814,,,Smith-McCort dysplasia 1,DOID:0081270,,OMIM ID:607461 | OMIM ID:607326 +BMGC_DS15366,BMG_DS058124,"Deafness, X-Linked 3",UMLS ID:C3888089,,,,,"hearing loss, X-linked 3",MONDO:0010228,,MeSH ID:C564727,,,,OMIM ID:300030 +BMGC_DS15367,BMG_DS058125,Early onset torsion dystonia,UMLS ID:C3888090,,,,,,,,MeSH ID:C538005,,,, +BMGC_DS15368,BMG_DS058126,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",UMLS ID:C3888093,,,,,autosomal recessive congenital ichthyosis 2,MONDO:0009439,,,,,,OMIM ID:242100 | OMIM ID:603741 +BMGC_DS15369,BMG_DS058128,Autosomal dominant vitreoretinochoroidopathy,UMLS ID:C3888099,"Autosomal dominant vitreoretinochoroidopathy (disorder) | Autosomal dominant vitreoretinochoroidopathy | Vitreoretinochoroidopathy with microcornea, glaucoma and cataract | Autosomal dominant vitreoretinochoroidopathy with nanophthalmos",SNOMEDCT ID:711162004,,,autosomal dominant vitreoretinochoroidopathy,MONDO:0008662,,,autosomal dominant vitreoretinochoroidopathy,DOID:0111569,,OMIM ID:193220 +BMGC_DS15370,BMG_DS058129,Frontotemporal Dementia With Motor Neuron Disease,UMLS ID:C3888102,,,,,frontotemporal dementia with motor neuron disease,MONDO:0017161,,MeSH ID:C566288,,,, +BMGC_DS15371,BMG_DS058130,Glomerulopathy with fibronectin deposits,UMLS ID:C3888104,Fibronectin glomerulopathy | Glomerulopathy with fibronectin deposits | Fibronectin glomerulopathy (disorder),SNOMEDCT ID:818952002,,,fibronectin glomerulopathy,MONDO:0007671,,MeSH ID:C536826,,,, +BMGC_DS15372,BMG_DS058131,,UMLS ID:C3888106,,,,,"multiple sclerosis, susceptibility to 1",MONDO:0021571,,,,,,OMIM ID:126200 +BMGC_DS15373,BMG_DS058133,"DEAFNESS, AUTOSOMAL DOMINANT 50",UMLS ID:C3888123,,,,,autosomal dominant nonsyndromic hearing loss 50,MONDO:0013114,,,,,,OMIM ID:611606 | OMIM ID:613074 +BMGC_DS15374,BMG_DS058134,"CATARACT 17, MULTIPLE TYPES",UMLS ID:C3888124,,,,,cataract 17 multiple types,MONDO:0012688,,,,,,OMIM ID:611544 +BMGC_DS15375,BMG_DS058135,"BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",UMLS ID:C3888198,,,,,autosomal recessive bestrophinopathy,MONDO:0012733,,,,,,OMIM ID:607854 | OMIM ID:611809 +BMGC_DS15376,BMG_DS058136,APOLIPOPROTEIN A-II DEFICIENCY,UMLS ID:C3888202,,,,,,,,,,,,OMIM ID:107670 +BMGC_DS15377,BMG_DS058137,ACTN3 DEFICIENCY,UMLS ID:C3888204,,,,,,,,,,,,OMIM ID:617749 | OMIM ID:102574 +BMGC_DS15378,BMG_DS058138,"SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT",UMLS ID:C3888208,,,,,hereditary spastic paraplegia 41,MONDO:0013239,,,,,,OMIM ID:613364 +BMGC_DS15379,BMG_DS058139,"SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE",UMLS ID:C3888209,,,,,hereditary spastic paraplegia 45,MONDO:0013165,,,,,,OMIM ID:613162 +BMGC_DS15380,BMG_DS058140,"DEAFNESS, AUTOSOMAL DOMINANT 58",UMLS ID:C3888210,,,,,autosomal dominant nonsyndromic hearing loss 58,MONDO:0014293,,,,,,OMIM ID:615654 +BMGC_DS15381,BMG_DS058141,"MYOPIA 17, AUTOSOMAL DOMINANT",UMLS ID:C3888211,,,,,"myopia 17, autosomal dominant",MONDO:0012021,,,,,,OMIM ID:608367 +BMGC_DS15382,BMG_DS058142,SECKEL SYNDROME 4,UMLS ID:C3888212,,,,,Seckel syndrome 4,MONDO:0013358,,,Seckel syndrome 4,DOID:0070010,,OMIM ID:613676 | OMIM ID:609279 +BMGC_DS15383,BMG_DS058143,,UMLS ID:C3888239,,,,,"Hirschsprung disease, susceptibility to, 1",MONDO:0007723,,,,,,OMIM ID:142623 +BMGC_DS15384,BMG_DS058144,AICARDI-GOUTIERES SYNDROME 7,UMLS ID:C3888244,,,,,Aicardi-Goutieres syndrome 7,MONDO:0014367,,,,,,OMIM ID:606951 | OMIM ID:615846 +BMGC_DS15385,BMG_DS058145,,UMLS ID:C3888271,,,,,"neuronopathy, distal hereditary motor, type 2D",MONDO:0014259,,,,,,OMIM ID:615575 +BMGC_DS15386,BMG_DS058146,"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",UMLS ID:C3888307,,,,,ABetaA21G amyloidosis,MONDO:0017948,,,APP-related cerebral amyloid angiopathy,DOID:0070028,,OMIM ID:605714 | OMIM ID:104760 +BMGC_DS15387,BMG_DS058147,"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",UMLS ID:C3888308,,,,,"ABeta amyloidosis, Italian type",MONDO:0017947,,,APP-related cerebral amyloid angiopathy,DOID:0070028,,OMIM ID:605714 | OMIM ID:104760 +BMGC_DS15388,BMG_DS058148,"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",UMLS ID:C3888309,,,,,"ABeta amyloidosis, Iowa type",MONDO:0017946,,,APP-related cerebral amyloid angiopathy,DOID:0070028,,OMIM ID:104760 | OMIM ID:605714 +BMGC_DS15389,BMG_DS058149,"DEAFNESS, AUTOSOMAL RECESSIVE 83",UMLS ID:C3888310,,,,,autosomal recessive nonsyndromic hearing loss 83,MONDO:0013365,,,,,,OMIM ID:613685 +BMGC_DS15390,BMG_DS058151,"Myopathy, familial idiopathic inflammatory",UMLS ID:C3888318,,,,,familial idiopathic inflammatory myopathy,MONDO:0600024,,MeSH ID:C000598744,,,,OMIM ID:160750 +BMGC_DS15391,BMG_DS058152,"DEAFNESS, AUTOSOMAL RECESSIVE 96",UMLS ID:C3888337,,,,,autosomal recessive nonsyndromic hearing loss 96,MONDO:0013738,,,,,,OMIM ID:614414 +BMGC_DS15392,BMG_DS058153,"GLAUCOMA 1, OPEN ANGLE, P",UMLS ID:C3888338,,,,,"glaucoma 1, open angle, P",MONDO:0008328,,,,,,OMIM ID:177700 +BMGC_DS15393,BMG_DS058154,OTOSCLEROSIS 10,UMLS ID:C3888339,,,,,otosclerosis 10,MONDO:0014264,,,otosclerosis 10,DOID:0060927,,OMIM ID:615589 +BMGC_DS15394,BMG_DS058155,"DEAFNESS, AUTOSOMAL RECESSIVE 93",UMLS ID:C3888355,,,,,autosomal recessive nonsyndromic hearing loss 93,MONDO:0013963,,,,,,OMIM ID:614899 | OMIM ID:607314 +BMGC_DS15395,BMG_DS058156,,UMLS ID:C3888385,,,,,peroxisome biogenesis disorder 7A (Zellweger),MONDO:0013938,,,,,,OMIM ID:614872 +BMGC_DS15396,BMG_DS058158,,UMLS ID:C3888401,,,,,oculocutaneous albinism type 5,MONDO:0014127,,,,,,OMIM ID:615312 +BMGC_DS15397,BMG_DS058159,"CATARACT 5, MULTIPLE TYPES",UMLS ID:C3888417,,,,,,,,,,,,OMIM ID:116800 +BMGC_DS15398,BMG_DS058160,,UMLS ID:C3888523,,,,,autoimmune uveitis,MONDO:0031012,,,,,, +BMGC_DS15399,BMG_DS058161,,UMLS ID:C3888631,,,,,monogenic diabetes,MONDO:0015967,,,,,, +BMGC_DS15400,BMG_DS058162,Hemorrhagic Necrotic Pancreatitis,UMLS ID:C3888668,,,,,,,"Pancreatitis, Acute Necrotizing",MeSH ID:D019283,acute necrotizing pancreatitis,DOID:0080998,, +BMGC_DS15401,BMG_DS058163,Hyperosmolar Hyperglycemic State,UMLS ID:C3888846,,,,,,,Hyperglycemic Hyperosmolar Nonketotic Coma,MeSH ID:D006944,,,, +BMGC_DS15402,BMG_DS058166,"Glycogen storage disease due to acid maltase deficiency, infantile onset",UMLS ID:C3888924,"Glycogen storage disease due to acid maltase deficiency, infantile onset | Glycogenosis due to acid maltase deficiency, infantile onset | Glycogenosis type II, infantile onset | Pompe disease, infantile onset | Glycogen storage disease type II infantile onset | Glycogen storage disease due to acid maltase deficiency, infantile onset (disorder)",SNOMEDCT ID:722302009,,,"glycogen storage disease due to acid maltase deficiency, infantile onset",MONDO:0017694,,,,,, +BMGC_DS15403,BMG_DS058167,Cryptococcus gattii Infection,UMLS ID:C3888929,,,,,,,Cryptococcosis,MeSH ID:D003453,,,, +BMGC_DS15404,BMG_DS058169,Non-Radiographic Axial Spondyloarthritis,UMLS ID:C3889038,,,,,,,Non-Radiographic Axial Spondyloarthritis,MeSH ID:D000089202,,,, +BMGC_DS15405,BMG_DS058170,BARDET-BIEDL SYNDROME 16,UMLS ID:C3889474,,,,,Bardet-Biedl syndrome 16,MONDO:0014444,,,,,,OMIM ID:615993 | OMIM ID:613524 +BMGC_DS15406,BMG_DS058171,BARDET-BIEDL SYNDROME 19,UMLS ID:C3889475,,,,,Bardet-Biedl syndrome 19,MONDO:0014447,,,,,,OMIM ID:615870 | OMIM ID:615996 +BMGC_DS15407,BMG_DS058172,SPINOCEREBELLAR ATAXIA 37,UMLS ID:C3889636,,,,,spinocerebellar ataxia type 37,MONDO:0014410,,,spinocerebellar ataxia type 37,DOID:0050984,,OMIM ID:603448 | OMIM ID:615945 +BMGC_DS15408,BMG_DS058174,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 100",UMLS ID:C3890167,,,,,"intellectual disability, X-linked 100",MONDO:0010488,,,non-syndromic X-linked intellectual disability 100,DOID:0112040,,OMIM ID:300521 | OMIM ID:300923 +BMGC_DS15409,BMG_DS058175,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 101",UMLS ID:C3890168,,,,,"intellectual disability, X-linked 101",MONDO:0010489,,,non-syndromic X-linked intellectual disability 101,DOID:0112048,,OMIM ID:300204 | OMIM ID:300928 +BMGC_DS15410,BMG_DS058176,,UMLS ID:C3890205,,,,,rheumatoid factor-negative juvenile idiopathic arthritis,MONDO:0019432,,,,,, +BMGC_DS15411,BMG_DS058178,NEPHRONOPHTHISIS 18,UMLS ID:C3890591,,,,,nephronophthisis 18,MONDO:0014374,,,nephronophthisis 18,DOID:0111125,,OMIM ID:615847 | OMIM ID:615862 +BMGC_DS15412,BMG_DS058180,,UMLS ID:C3890737,,,,,autoinflammatory syndrome,MONDO:0019751,,,,,, +BMGC_DS15413,BMG_DS058182,,UMLS ID:C3891301,,,,,Wilms tumor 6,MONDO:0014779,,,,,,OMIM ID:616806 +BMGC_DS15414,BMG_DS058183,,UMLS ID:C3891448,,,,,"neural tube defects, susceptibility to",MONDO:0020705,,,,,,OMIM ID:182940 +BMGC_DS15415,BMG_DS058184,SECKEL SYNDROME 8,UMLS ID:C3891452,,,,,Seckel syndrome 8,MONDO:0014350,,,Seckel syndrome 8,DOID:0070009,,OMIM ID:601810 | OMIM ID:615807 +BMGC_DS15416,BMG_DS058185,CHROMOSOME Xq26.3 DUPLICATION SYNDROME,UMLS ID:C3891556,,,,,X-linked acrogigantism due to Xq26 microduplication,MONDO:0010491,,,,,,OMIM ID:300942 +BMGC_DS15417,BMG_DS058187,"Arthritis, Suppurative",UMLS ID:C3891815,,,,,,,"Arthritis, Infectious",MeSH ID:D001170,,,, +BMGC_DS15418,BMG_DS058188,PANCREATIC AGENESIS 1,UMLS ID:C3891828,,,,,pancreatic agenesis 1,MONDO:0024547,,,pancreatic agenesis 1,DOID:0061003,,OMIM ID:260370 | OMIM ID:600733 +BMGC_DS15419,BMG_DS058189,BARDET-BIEDL SYNDROME 5,UMLS ID:C3892039,,,,,Bardet-Biedl syndrome 5,MONDO:0014434,,,,,,OMIM ID:603650 | OMIM ID:615983 +BMGC_DS15420,BMG_DS058190,"DEAFNESS, AUTOSOMAL DOMINANT 65",UMLS ID:C3892048,,,,,autosomal dominant nonsyndromic hearing loss 65,MONDO:0014470,,,,,,OMIM ID:616044 | OMIM ID:613577 +BMGC_DS15421,BMG_DS058191,"DEAFNESS, AUTOSOMAL RECESSIVE 101",UMLS ID:C3892049,,,,,autosomal recessive nonsyndromic hearing loss 101,MONDO:0014363,,,,,,OMIM ID:615837 | OMIM ID:615762 +BMGC_DS15422,BMG_DS058192,"DEAFNESS, AUTOSOMAL RECESSIVE 102",UMLS ID:C3892050,,,,,autosomal recessive nonsyndromic hearing loss 102,MONDO:0014428,,,,,,OMIM ID:615974 | OMIM ID:600206 +BMGC_DS15423,BMG_DS058193,,UMLS ID:C3896578,,,,,familial colorectal cancer type X,MONDO:0018604,,,,,, +BMGC_DS15424,BMG_DS058196,,UMLS ID:C3897042,,,,,Smouldering systemic mastocytosis,MONDO:0015557,,,,,, +BMGC_DS15425,BMG_DS058205,DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD,UMLS ID:C3898649,,,,,disabling pansclerotic morphea of childhood,MONDO:0957497,,,,,,OMIM ID:620443 | OMIM ID:600558 +BMGC_DS15426,BMG_DS058215,,UMLS ID:C3899764,,,,,CIC-rearranged sarcoma,MONDO:0956989,,,,,, +BMGC_DS15427,BMG_DS058219,,UMLS ID:C3900122,,,,,short stature due to primary acid-labile subunit deficiency,MONDO:0014420,,,,,,OMIM ID:615961 +BMGC_DS15428,BMG_DS058220,"AMELOGENESIS IMPERFECTA, TYPE IA",UMLS ID:C4011403,,,,,amelogenesis imperfecta type 1A,MONDO:0007094,,,,,,OMIM ID:150310 | OMIM ID:104530 +BMGC_DS15429,BMG_DS058221,CATARACT 42,UMLS ID:C4011454,,,,,cataract 42,MONDO:0007283,,,,,,OMIM ID:600836 | OMIM ID:115900 +BMGC_DS15430,BMG_DS058222,"MYOPATHY, DISTAL, INFANTILE-ONSET",UMLS ID:C4011725,,,,,"myopathy, distal, infantile-onset",MONDO:0008049,,,infantile-onset distal myopathy,DOID:0070196,,OMIM ID:160300 +BMGC_DS15431,BMG_DS058223,"MYOPATHY, TUBULAR AGGREGATE, 1",UMLS ID:C4011726,,,,,"myopathy, tubular aggregate, 1",MONDO:0024531,,,tubular aggregate myopathy 1,DOID:0080089,,OMIM ID:160565 | OMIM ID:605921 +BMGC_DS15432,BMG_DS058224,Behavioral variant of frontotemporal dementia,UMLS ID:C4011788,Behavioral variant of frontotemporal dementia (disorder) | Behavioral variant of frontotemporal dementia | Behavioural variant of frontotemporal dementia,SNOMEDCT ID:716994006,,,behavioral variant of frontotemporal dementia,MONDO:0017160,,,,,, +BMGC_DS15433,BMG_DS058225,WHITE SPONGE NEVUS 1,UMLS ID:C4011926,,,,,white sponge nevus 1,MONDO:0008676,,,white sponge nevus 1,DOID:0081287,,OMIM ID:193900 | OMIM ID:123940 +BMGC_DS15434,BMG_DS058227,IMMUNODEFICIENCY 27A,UMLS ID:C4011949,,,,,immunodeficiency 27A,MONDO:0008856,,,,,,OMIM ID:107470 | OMIM ID:209950 +BMGC_DS15435,BMG_DS058228,"COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE",UMLS ID:C4011974,,,,,"coloboma, ocular, autosomal recessive",MONDO:0009002,,,,,,OMIM ID:216820 | OMIM ID:602219 +BMGC_DS15436,BMG_DS058230,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1,UMLS ID:C4012050,,,,,Hennekam lymphangiectasia-lymphedema syndrome 1,MONDO:0009337,,,,,,OMIM ID:612753 | OMIM ID:235510 +BMGC_DS15437,BMG_DS058231,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID",UMLS ID:C4012054,,,,,"neuropathy, hereditary sensory and autonomic, type IId",MONDO:0800304,,,,,,OMIM ID:243000 | OMIM ID:603415 +BMGC_DS15438,BMG_DS058234,DESBUQUOIS DYSPLASIA 1,UMLS ID:C4012146,,,,,Desbuquois dysplasia 1,MONDO:0009629,,,,,,OMIM ID:613165 | OMIM ID:251450 +BMGC_DS15439,BMG_DS058235,Neonatal pulmonary hypertension,UMLS ID:C4012212,,,,,,,,,,,,OMIM ID:MTHU045623 +BMGC_DS15440,BMG_DS058238,"TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE",UMLS ID:C4012268,,,,,tetraamelia syndrome 1,MONDO:0060764,,,tetraamelia syndrome 1,DOID:0112192,,OMIM ID:273395 +BMGC_DS15441,BMG_DS058240,Congenital disorder of glycosylation type 1y,UMLS ID:C4012395,Signal sequence receptor subunit 4 congenital disorder of glycosylation | Congenital disorder of glycosylation type Iy | SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation | Congenital disorder of glycosylation type 1y | Carbohydrate deficient glycoprotein syndrome type Iy | Congenital disorder of glycosylation type 1y (disorder),SNOMEDCT ID:733115009,,,SSR4-congenital disorder of glycosylation,MONDO:0010490,,,,,,OMIM ID:300934 +BMGC_DS15442,BMG_DS058243,,UMLS ID:C4012409,,,,,"pituitary adenoma, growth hormone-secreting, 2",MONDO:0010492,,,,,,OMIM ID:300943 +BMGC_DS15443,BMG_DS058245,"ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE",UMLS ID:C4012597,,,,,"alacrima, congenital, autosomal recessive",MONDO:0011105,,,,,,OMIM ID:601549 +BMGC_DS15444,BMG_DS058246,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1,UMLS ID:C4012727,,,,,megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1,MONDO:0011313,,,,,,OMIM ID:603157 | OMIM ID:603387 +BMGC_DS15445,BMG_DS058247,,UMLS ID:C4012790,,,,,ataxia-telangiectasia-like disorder 1,MONDO:0024557,,,,,,OMIM ID:604391 +BMGC_DS15446,BMG_DS058255,,UMLS ID:C4013473,,,,,"epilepsy, idiopathic generalized, susceptibility to, 13",MONDO:0012627,,,,,,OMIM ID:611136 +BMGC_DS15447,BMG_DS058256,,UMLS ID:C4013560,,,,,"atrial fibrillation, familial, 17",MONDO:0800345,,,,,, +BMGC_DS15448,BMG_DS058258,Progressive pulmonary failure,UMLS ID:C4013572,,,,,,,,,,,,OMIM ID:MTHU068873 +BMGC_DS15449,BMG_DS058261,"POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL",UMLS ID:C4013648,,,,,bilateral parasagittal parieto-occipital polymicrogyria,MONDO:0012986,,,bilateral parasagittal parieto-occipital polymicrogyria,DOID:0080923,,OMIM ID:609390 | OMIM ID:612691 +BMGC_DS15450,BMG_DS058262,,UMLS ID:C4013699,,,,,"atrial fibrillation, familial, 16",MONDO:0800349,,,,,, +BMGC_DS15451,BMG_DS058263,,UMLS ID:C4013764,,,,,intellectual disability-severe speech delay-mild dysmorphism syndrome,MONDO:0013352,,,,,,OMIM ID:613670 +BMGC_DS15452,BMG_DS058265,IMMUNODEFICIENCY 28,UMLS ID:C4013947,,,,,immunodeficiency 28,MONDO:0013953,,,immunodeficiency 28,DOID:0111995,,OMIM ID:147569 | OMIM ID:614889 +BMGC_DS15453,BMG_DS058266,IMMUNODEFICIENCY 29,UMLS ID:C4013948,,,,,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,MONDO:0013954,,,immunodeficiency 29,DOID:0111950,,OMIM ID:614890 | OMIM ID:161561 +BMGC_DS15454,BMG_DS058267,IMMUNODEFICIENCY 30,UMLS ID:C4013949,,,,,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,MONDO:0013955,,,immunodeficiency 30,DOID:0111990,,OMIM ID:601604 | OMIM ID:614891 +BMGC_DS15455,BMG_DS058268,IMMUNODEFICIENCY 31A,UMLS ID:C4013950,,,,,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,MONDO:0013956,,,immunodeficiency 31A,DOID:0111945,,OMIM ID:614892 | OMIM ID:600555 +BMGC_DS15456,BMG_DS058274,IMMUNODEFICIENCY 22,UMLS ID:C4014233,,,,,severe combined immunodeficiency due to LCK deficiency,MONDO:0014334,,,immunodeficiency 22,DOID:0111937,,OMIM ID:615758 | OMIM ID:153390 +BMGC_DS15457,BMG_DS058275,"MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY",UMLS ID:C4014239,,,,,diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome,MONDO:0014335,,,,,,OMIM ID:615760 | OMIM ID:603727 +BMGC_DS15458,BMG_DS058276,"ATRIAL FIBRILLATION, FAMILIAL, 15",UMLS ID:C4014269,,,,,"atrial fibrillation, familial, 15",MONDO:0014340,,,,,,OMIM ID:615770 +BMGC_DS15459,BMG_DS058277,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6",UMLS ID:C4014283,,,,,complex cortical dysplasia with other brain malformations 6,MONDO:0014341,,,complex cortical dysplasia with other brain malformations 6,DOID:0090136,,OMIM ID:615771 | OMIM ID:191130 +BMGC_DS15460,BMG_DS058278,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1,UMLS ID:C4014291,,,,,female infertility due to zona pellucida defect,MONDO:0014342,,,,,,OMIM ID:615774 | OMIM ID:195000 +BMGC_DS15461,BMG_DS058279,DESBUQUOIS DYSPLASIA 2,UMLS ID:C4014294,,,,,Desbuquois dysplasia 2,MONDO:0014343,,,,,,OMIM ID:615777 | OMIM ID:608124 +BMGC_DS15462,BMG_DS058280,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4",UMLS ID:C4014310,,,,,"congenital heart defects, multiple types, 4",MONDO:0014344,,,,,,OMIM ID:107773 | OMIM ID:615779 +BMGC_DS15463,BMG_DS058281,RETINITIS PIGMENTOSA 69,UMLS ID:C4014312,,,,,retinitis pigmentosa 69,MONDO:0014345,,,,,,OMIM ID:615757 | OMIM ID:615780 +BMGC_DS15464,BMG_DS058283,WHITE SPONGE NEVUS 2,UMLS ID:C4014321,,,,,white sponge nevus 2,MONDO:0014346,,,white sponge nevus 2,DOID:0081288,,OMIM ID:148065 | OMIM ID:615785 +BMGC_DS15465,BMG_DS058284,"ROTHMUND-THOMSON SYNDROME, TYPE 3",UMLS ID:C4014339,,,,,"Rothmund-Thomson syndrome, type 3",MONDO:0014347,,,,,,OMIM ID:604594 | OMIM ID:615789 +BMGC_DS15466,BMG_DS058285,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES",UMLS ID:C4014343,,,,,"intellectual disability, autosomal recessive 42",MONDO:0014348,,,,,,OMIM ID:611655 | OMIM ID:615802 +BMGC_DS15467,BMG_DS058286,"PONTOCEREBELLAR HYPOPLASIA, TYPE 9",UMLS ID:C4014354,,,,,pontocerebellar hypoplasia type 9,MONDO:0014351,,,,,,OMIM ID:102771 | OMIM ID:615809 +BMGC_DS15468,BMG_DS058287,ABDOMINAL OBESITY-METABOLIC SYNDROME 3,UMLS ID:C4014361,,,,,abdominal obesity-metabolic syndrome 3,MONDO:0014352,,,abdominal obesity-metabolic syndrome 3,DOID:0060612,,OMIM ID:604556 | OMIM ID:615812 +BMGC_DS15469,BMG_DS058288,IMMUNODEFICIENCY 23,UMLS ID:C4014371,,,,,immunodeficiency 23,MONDO:0014353,,,immunodeficiency 23,DOID:0111953,,OMIM ID:615816 | OMIM ID:216920 | OMIM ID:615816 | OMIM ID:172100 +BMGC_DS15470,BMG_DS058289,,UMLS ID:C4014386,,,,,"intellectual disability, autosomal recessive 43",MONDO:0014354,,,,,,OMIM ID:615817 +BMGC_DS15471,BMG_DS058290,"CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS",UMLS ID:C4014393,,,,,"cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis",MONDO:0014355,,,,,,OMIM ID:615821 | OMIM ID:125647 +BMGC_DS15472,BMG_DS058291,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7",UMLS ID:C4014408,,,,,mitochondrial complex III deficiency nuclear type 7,MONDO:0014356,,,mitochondrial complex III deficiency nuclear type 7,DOID:0080116,,OMIM ID:615824 | OMIM ID:614461 +BMGC_DS15473,BMG_DS058292,VULTO-VAN SILFHOUT-DE VRIES SYNDROME,UMLS ID:C4014414,,,,,"intellectual disability, autosomal dominant 24",MONDO:0014357,,,Vulto-van Silfout-de Vries syndrome,DOID:0070054,,OMIM ID:615828 | OMIM ID:602635 +BMGC_DS15474,BMG_DS058293,"AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome",UMLS ID:C4014419,"AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | Xia Gibbs syndrome | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome | AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) | AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome",SNOMEDCT ID:774068004,,,AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome,MONDO:0014358,,,,,,OMIM ID:615829 +BMGC_DS15475,BMG_DS058294,"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4",UMLS ID:C4014425,,,,,"pigmented nodular adrenocortical disease, primary, 4",MONDO:0014359,,,primary pigmented nodular adrenocortical disease 4,DOID:0070549,,OMIM ID:615830 +BMGC_DS15476,BMG_DS058295,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21,UMLS ID:C4014430,,,,,"developmental and epileptic encephalopathy, 21",MONDO:0014360,,,developmental and epileptic encephalopathy 21,DOID:0080443,,OMIM ID:611623 | OMIM ID:615833 +BMGC_DS15477,BMG_DS058296,,UMLS ID:C4014435,,,,,autism spectrum disorder due to AUTS2 deficiency,MONDO:0014361,,,,,,OMIM ID:615834 +BMGC_DS15478,BMG_DS058298,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8",UMLS ID:C4014440,,,,,mitochondrial complex III deficiency nuclear type 8,MONDO:0014364,,,mitochondrial complex III deficiency nuclear type 8,DOID:0080117,,OMIM ID:615838 | OMIM ID:615831 +BMGC_DS15479,BMG_DS058299,SPERMATOGENIC FAILURE 13,UMLS ID:C4014449,,,,,spermatogenic failure 13,MONDO:0014365,,,spermatogenic failure 13,DOID:0070182,,OMIM ID:601689 | OMIM ID:615841 +BMGC_DS15480,BMG_DS058300,SPERMATOGENIC FAILURE 14,UMLS ID:C4014454,,,,,spermatogenic failure 14,MONDO:0014366,,,spermatogenic failure 14,DOID:0070179,,OMIM ID:614312 | OMIM ID:615842 +BMGC_DS15481,BMG_DS058301,,UMLS ID:C4014476,,,,,tumor predisposition syndrome 3,MONDO:0014368,,,,,,OMIM ID:615848 | OMIM ID:616568 +BMGC_DS15482,BMG_DS058302,,UMLS ID:C4014479,,,,,postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,MONDO:0014369,,,,,,OMIM ID:615849 +BMGC_DS15483,BMG_DS058303,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2E",UMLS ID:C4014488,,,,,pontocerebellar hypoplasia type 2E,MONDO:0014370,,,pontocerebellar hypoplasia type 2E,DOID:0060271,,OMIM ID:615850 | OMIM ID:615851 +BMGC_DS15484,BMG_DS058304,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23,UMLS ID:C4014492,,,,,"developmental and epileptic encephalopathy, 23",MONDO:0014371,,,developmental and epileptic encephalopathy 23,DOID:0080415,,OMIM ID:615859 | OMIM ID:615730 +BMGC_DS15485,BMG_DS058305,CONE-ROD DYSTROPHY 19,UMLS ID:C4014501,,,,,cone-rod dystrophy 19,MONDO:0014372,,,cone-rod dystrophy 19,DOID:0111025,,OMIM ID:612268 | OMIM ID:615860 +BMGC_DS15486,BMG_DS058306,"NEPHROTIC SYNDROME, TYPE 10",UMLS ID:C4014507,,,,,"nephrotic syndrome, type 10",MONDO:0014373,,,nephrotic syndrome type 10,DOID:0080386,,OMIM ID:602334 | OMIM ID:615861 +BMGC_DS15487,BMG_DS058307,"DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE",UMLS ID:C4014516,,,,,congenital diarrhea 7 with exudative enteropathy,MONDO:0014375,,,,,,OMIM ID:604900 | OMIM ID:615863 +BMGC_DS15488,BMG_DS058308,COFFIN-SIRIS SYNDROME 9,UMLS ID:C4014528,,,,,"intellectual disability, autosomal dominant 27",MONDO:0014376,,,Coffin-Siris syndrome 9,DOID:0070057,,OMIM ID:615866 +BMGC_DS15489,BMG_DS058309,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24,UMLS ID:C4014531,,,,,"developmental and epileptic encephalopathy, 24",MONDO:0014377,,,developmental and epileptic encephalopathy 24,DOID:0080429,,OMIM ID:615871 | OMIM ID:602780 +BMGC_DS15490,BMG_DS058310,,UMLS ID:C4014534,,,,,primary ciliary dyskinesia 29,MONDO:0014378,,,,,,OMIM ID:615872 +BMGC_DS15491,BMG_DS058311,"ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder",UMLS ID:C4014538,"Helsmoortel-van der Aa syndrome | ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) | Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder",SNOMEDCT ID:766824003,,,ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder,MONDO:0014379,,,,,,OMIM ID:615873 +BMGC_DS15492,BMG_DS058312,MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME,UMLS ID:C4014540,,,,,colobomatous microphthalmia-rhizomelic dysplasia syndrome,MONDO:0014380,,,syndromic microphthalmia 14,DOID:0111802,,OMIM ID:604357 | OMIM ID:615877 +BMGC_DS15493,BMG_DS058313,Tatton Brown Rahman syndrome,UMLS ID:C4014545,"Tatton Brown Rahman overgrowth syndrome | DNA methyltransferase 3 alpha overgrowth syndrome | Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) | DNMT3A-related overgrowth syndrome | Tatton Brown Rahman syndrome | Tall stature, intellectual disability, facial dysmorphism syndrome",SNOMEDCT ID:768843007,,,Tatton-Brown-Rahman overgrowth syndrome,MONDO:0014382,,,,,,OMIM ID:615879 +BMGC_DS15494,BMG_DS058314,"MYOPATHY, TUBULAR AGGREGATE, 2",UMLS ID:C4014557,,,,,"myopathy, tubular aggregate, 2",MONDO:0014383,,,tubular aggregate myopathy 2,DOID:0080686,,OMIM ID:610277 | OMIM ID:615883 +BMGC_DS15495,BMG_DS058315,HYPOTRICHOSIS 12,UMLS ID:C4014563,,,,,hypotrichosis 12,MONDO:0014384,,,hypotrichosis 12,DOID:0110709,,OMIM ID:615885 | OMIM ID:603636 +BMGC_DS15496,BMG_DS058316,"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5",UMLS ID:C4014578,,,,,amelogenesis imperfecta hypomaturation type 2A5,MONDO:0014385,,,,,,OMIM ID:615887 | OMIM ID:609840 +BMGC_DS15497,BMG_DS058317,"BLEEDING DISORDER, PLATELET-TYPE, 18",UMLS ID:C4014584,,,,,platelet-type bleeding disorder 18,MONDO:0014386,,,,,,OMIM ID:615888 | OMIM ID:605577 +BMGC_DS15498,BMG_DS058318,"LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE",UMLS ID:C4014588,,,,,"leukoencephalopathy, progressive, with ovarian failure",MONDO:0014387,,,progressive leukoencephalopathy with ovarian failure,DOID:0070396,,OMIM ID:615889 | OMIM ID:612035 +BMGC_DS15499,BMG_DS058319,,UMLS ID:C4014596,,,,,familial median cleft of the upper and lower lips,MONDO:0014388,,,,,,OMIM ID:615892 +BMGC_DS15500,BMG_DS058320,POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY,UMLS ID:C4014605,,,,,polyglucosan body myopathy 1 with or without immunodeficiency,MONDO:0014389,,,,,,OMIM ID:615895 | OMIM ID:610924 +BMGC_DS15501,BMG_DS058321,HYPOTRICHOSIS 13,UMLS ID:C4014616,,,,,hypotrichosis 13,MONDO:0014390,,,hypotrichosis 13,DOID:0110710,,OMIM ID:615896 | OMIM ID:608245 +BMGC_DS15502,BMG_DS058322,IMMUNODEFICIENCY 24,UMLS ID:C4014617,,,,,severe combined immunodeficiency due to CTPS1 deficiency,MONDO:0014391,,,immunodeficiency 24,DOID:0111938,,OMIM ID:615897 | OMIM ID:123860 +BMGC_DS15503,BMG_DS058323,,UMLS ID:C4014621,,,,,"developmental and epileptic encephalopathy, 25",MONDO:0014392,,,,,,OMIM ID:615905 +BMGC_DS15504,BMG_DS058324,DIAMOND-BLACKFAN ANEMIA 13,UMLS ID:C4014641,,,,,Diamond-Blackfan anemia 13,MONDO:0014394,,,Diamond-Blackfan anemia 13,DOID:0111889,,OMIM ID:615909 | OMIM ID:603633 +BMGC_DS15505,BMG_DS058325,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2,UMLS ID:C4014648,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 2,MONDO:0014395,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 2,DOID:0060214,,OMIM ID:615911 | OMIM ID:615903 +BMGC_DS15506,BMG_DS058327,"CARDIOMYOPATHY, DILATED, 1NN",UMLS ID:C4014656,,,,,dilated cardiomyopathy 1NN,MONDO:0014396,,,,,,OMIM ID:615916 | OMIM ID:164760 +BMGC_DS15507,BMG_DS058328,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20,UMLS ID:C4014660,,,,,combined oxidative phosphorylation defect type 20,MONDO:0014397,,,combined oxidative phosphorylation deficiency 20,DOID:0111478,,OMIM ID:615917 | OMIM ID:612802 +BMGC_DS15508,BMG_DS058329,ATAXIA-TELANGIECTASIA-LIKE DISORDER 2,UMLS ID:C4014676,,,,,ataxia-telangiectasia-like disorder 2,MONDO:0014399,,,ataxia-telangiectasia-like disorder-2,DOID:0081385,,OMIM ID:176740 | OMIM ID:615919 +BMGC_DS15509,BMG_DS058330,RETINITIS PIGMENTOSA 70,UMLS ID:C4014681,,,,,retinitis pigmentosa 70,MONDO:0014400,,,,,,OMIM ID:615922 | OMIM ID:607795 +BMGC_DS15510,BMG_DS058331,"EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",UMLS ID:C4014690,,,,,tall stature-scoliosis-macrodactyly of the great toes syndrome,MONDO:0014401,,,Miura type epiphyseal chondrodysplasia,DOID:0070316,,OMIM ID:615923 | OMIM ID:108961 +BMGC_DS15511,BMG_DS058332,"ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",UMLS ID:C4014700,,,,,severe neurodegenerative syndrome with lipodystrophy,MONDO:0014402,,,,,,OMIM ID:615924 | OMIM ID:606158 +BMGC_DS15512,BMG_DS058333,WEBB-DATTANI SYNDROME,UMLS ID:C4014708,,,,,Webb-Dattani syndrome,MONDO:0014404,,,,,,OMIM ID:615926 | OMIM ID:606036 +BMGC_DS15513,BMG_DS058334,"STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",UMLS ID:C4014722,,,,,STING-associated vasculopathy with onset in infancy,MONDO:0014405,,,STING-associated vasculopathy with onset in infancy,DOID:0111457,,OMIM ID:612374 | OMIM ID:615934 +BMGC_DS15514,BMG_DS058335,PANCREATIC AGENESIS 2,UMLS ID:C4014737,,,,,pancreatic agenesis 2,MONDO:0014406,,,pancreatic agenesis 2,DOID:0060988,,OMIM ID:615935 +BMGC_DS15515,BMG_DS058336,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2,UMLS ID:C4014738,,,,,megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2,MONDO:0014407,,,,,,OMIM ID:611223 | OMIM ID:615937 +BMGC_DS15516,BMG_DS058338,MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3,UMLS ID:C4014742,,,,,megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3,MONDO:0014408,,,,,,OMIM ID:123833 | OMIM ID:615938 +BMGC_DS15517,BMG_DS058339,,UMLS ID:C4014745,,,,,"intellectual disability, autosomal recessive 44",MONDO:0014409,,,,,,OMIM ID:615942 +BMGC_DS15518,BMG_DS058340,"MYOPIA 24, AUTOSOMAL DOMINANT",UMLS ID:C4014762,,,,,"myopia 24, autosomal dominant",MONDO:0014411,,,,,,OMIM ID:615946 | OMIM ID:608730 +BMGC_DS15519,BMG_DS058341,"HYPERLIPOPROTEINEMIA, TYPE ID",UMLS ID:C4014767,,,,,"hyperlipoproteinemia, type 1D",MONDO:0014412,,,familial GPIHBP1 deficiency,DOID:0111420,,OMIM ID:615947 | OMIM ID:612757 +BMGC_DS15520,BMG_DS058342,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",UMLS ID:C4014795,,,,,STAT3-related early-onset multisystem autoimmune disease,MONDO:0014414,,,,,,OMIM ID:615952 | OMIM ID:102582 +BMGC_DS15521,BMG_DS058343,ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2,UMLS ID:C4014803,,,,,ACTH-independent macronodular adrenal hyperplasia 2,MONDO:0014416,,,ACTH-independent macronodular adrenal hyperplasia 2,DOID:0111624,,OMIM ID:615954 | OMIM ID:615549 +BMGC_DS15522,BMG_DS058344,"MYOPATHY, CENTRONUCLEAR, 5",UMLS ID:C4014814,,,,,"myopathy, centronuclear, 5",MONDO:0014418,,,centronuclear myopathy 5,DOID:0111222,,OMIM ID:615959 +BMGC_DS15523,BMG_DS058345,"Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome",UMLS ID:C4014821,"Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome | Poretti Boltshauser syndrome | Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)",SNOMEDCT ID:763344007,,,ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome,MONDO:0014419,,,,,,OMIM ID:615960 +BMGC_DS15524,BMG_DS058346,VESICOURETERAL REFLUX 8,UMLS ID:C4014831,,,,,vesicoureteral reflux 8,MONDO:0014422,,,,,,OMIM ID:615963 | OMIM ID:600985 +BMGC_DS15525,BMG_DS058347,IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES,UMLS ID:C4014833,,,,,severe combined immunodeficiency due to DNA-PKcs deficiency,MONDO:0014423,,,immunodeficiency 26,DOID:0111961,,OMIM ID:615966 +BMGC_DS15526,BMG_DS058348,NANOPHTHALMOS 4,UMLS ID:C4014848,,,,,nanophthalmos 4,MONDO:0014426,,,,,,OMIM ID:615972 | OMIM ID:615949 +BMGC_DS15527,BMG_DS058349,CONE-ROD DYSTROPHY 20,UMLS ID:C4014856,,,,,cone-rod dystrophy 20,MONDO:0014427,,,cone-rod dystrophy 20,DOID:0111026,,OMIM ID:614784 | OMIM ID:615973 +BMGC_DS15528,BMG_DS058350,IMMUNODEFICIENCY 27B,UMLS ID:C4014863,,,,,autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,MONDO:0014429,,,immunodeficiency 27B,DOID:0111956,,OMIM ID:615978 | OMIM ID:107470 +BMGC_DS15529,BMG_DS058351,,UMLS ID:C4014864,,,,,"intellectual disability, autosomal recessive 45",MONDO:0014430,,,,,,OMIM ID:615979 +BMGC_DS15530,BMG_DS058352,LIPE-related familial partial lipodystrophy,UMLS ID:C4014869,"FPLD6 - familial partial lipodystrophy type 6 | LIPE-related familial partial lipodystrophy | Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder) | Lipase E, hormone sensitive type-related familial partial lipodystrophy",SNOMEDCT ID:1197751007,,,LIPE-related familial partial lipodystrophy,MONDO:0014431,,,,,,OMIM ID:615980 +BMGC_DS15531,BMG_DS058354,,UMLS ID:C4014918,,,,,"breasts and/or nipples, aplasia or hypoplasia of, 2",MONDO:0014450,,,,,,OMIM ID:616001 +BMGC_DS15532,BMG_DS058355,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7,UMLS ID:C4014925,,,,,focal segmental glomerulosclerosis 7,MONDO:0014451,,,,,,OMIM ID:616002 | OMIM ID:167409 +BMGC_DS15533,BMG_DS058356,,UMLS ID:C4014934,,,,,immunodeficiency 36,MONDO:0014453,,,immunodeficiency 36,DOID:0111949,,OMIM ID:616005 +BMGC_DS15534,BMG_DS058358,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2,UMLS ID:C4014939,,,,,Hennekam lymphangiectasia-lymphedema syndrome 2,MONDO:0014454,,,,,,OMIM ID:616006 | OMIM ID:612411 +BMGC_DS15535,BMG_DS058359,"Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome",UMLS ID:C4014942,"CAGSSS - cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome",SNOMEDCT ID:1220595008,,,cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,MONDO:0014455,,,,,,OMIM ID:616007 +BMGC_DS15536,BMG_DS058360,,UMLS ID:C4014954,,,,,autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,MONDO:0014456,,,,,,OMIM ID:616022 +BMGC_DS15537,BMG_DS058361,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11,UMLS ID:C4014958,,,,,hyperphosphatasia with intellectual disability syndrome 5,MONDO:0014457,,,hyperphosphatasia with impaired intellectual development syndrome 5,DOID:0070432,,OMIM ID:616025 | OMIM ID:610275 +BMGC_DS15538,BMG_DS058362,FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG,UMLS ID:C4014962,,,,,Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,MONDO:0014458,,,Fanconi renotubular syndrome 4,DOID:0080760,,OMIM ID:616026 +BMGC_DS15539,BMG_DS058363,ADAMS-OLIVER SYNDROME 5,UMLS ID:C4014970,,,,,Adams-Oliver syndrome 5,MONDO:0014459,,,,,,OMIM ID:616028 | OMIM ID:190198 +BMGC_DS15540,BMG_DS058365,"Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome",UMLS ID:C4014987,"Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome | Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome (disorder) | Ectodermal dysplasia short stature syndrome | Short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome",SNOMEDCT ID:764995008,,,nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,MONDO:0014460,,,,,,OMIM ID:616029 +BMGC_DS15541,BMG_DS058366,HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA,UMLS ID:C4014988,,,,,hypogonadotropic hypogonadism 22 with or without anosmia,MONDO:0014461,,,,,,OMIM ID:616030 +BMGC_DS15542,BMG_DS058367,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8,UMLS ID:C4014993,,,,,focal segmental glomerulosclerosis 8,MONDO:0014462,,,,,,OMIM ID:616032 | OMIM ID:616027 +BMGC_DS15543,BMG_DS058368,"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1",UMLS ID:C4014997,,,,,"microcephaly, short stature, and impaired glucose metabolism 1",MONDO:0000208,,,,,,OMIM ID:616013 | OMIM ID:616033 +BMGC_DS15544,BMG_DS058371,"CILIARY DYSKINESIA, PRIMARY, 30",UMLS ID:C4015016,,,,,primary ciliary dyskinesia 30,MONDO:0014465,,,,,,OMIM ID:616037 | OMIM ID:615956 +BMGC_DS15545,BMG_DS058372,NEU-LAXOVA SYNDROME 2,UMLS ID:C4015019,,,,,Neu-Laxova syndrome 2,MONDO:0014466,,,Neu-Laxova syndrome 2,DOID:0080075,,OMIM ID:616038 | OMIM ID:610936 +BMGC_DS15546,BMG_DS058373,"MYASTHENIC SYNDROME, CONGENITAL, 7A, PRESYNAPTIC, AND DISTAL MOTOR NEUROPATHY, AUTOSOMAL DOMINANT",UMLS ID:C4015038,,,,,congenital myasthenic syndrome 7,MONDO:0014468,,,congenital myasthenic syndrome 7,DOID:0110659,,OMIM ID:616040 | OMIM ID:600104 +BMGC_DS15547,BMG_DS058374,"DEAFNESS, AUTOSOMAL RECESSIVE 103",UMLS ID:C4015050,,,,,autosomal recessive nonsyndromic hearing loss 103,MONDO:0014469,,,,,,OMIM ID:616042 | OMIM ID:607293 +BMGC_DS15548,BMG_DS058376,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22,UMLS ID:C4015062,,,,,combined oxidative phosphorylation deficiency 22,MONDO:0020727,,,combined oxidative phosphorylation deficiency 22,DOID:0111498,,OMIM ID:616045 | OMIM ID:164360 +BMGC_DS15549,BMG_DS058377,,UMLS ID:C4015067,,,,,periodic fever-infantile enterocolitis-autoinflammatory syndrome,MONDO:0014472,,,,,,OMIM ID:616050 +BMGC_DS15550,BMG_DS058378,"MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4015080,,,,,"microcephaly 13, primary, autosomal recessive",MONDO:0014473,,,primary autosomal recessive microcephaly 13,DOID:0070283,,OMIM ID:616051 | OMIM ID:117143 +BMGC_DS15551,BMG_DS058382,Episodic ataxia with slurred speech,UMLS ID:C4015108,Episodic ataxia with slurred speech | Episodic ataxia with slurred speech (disorder) | Episodic ataxia type 8,SNOMEDCT ID:773495009,,,episodic ataxia type 8,MONDO:0014476,,,,,,OMIM ID:616055 +BMGC_DS15552,BMG_DS058383,,UMLS ID:C4015119,,,,,"developmental and epileptic encephalopathy, 26",MONDO:0014477,,,,,,OMIM ID:616056 +BMGC_DS15553,BMG_DS058384,MIRROR MOVEMENTS 3,UMLS ID:C4015124,,,,,mirror movements 3,MONDO:0014478,,,,,,OMIM ID:616059 | OMIM ID:610565 +BMGC_DS15554,BMG_DS058385,"POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE",UMLS ID:C4015128,,,,,"porokeratosis 8, disseminated superficial actinic type",MONDO:0014479,,,,,,OMIM ID:616063 | OMIM ID:612107 +BMGC_DS15555,BMG_DS058386,"46,XY SEX REVERSAL 9",UMLS ID:C4015129,,,,,"46,XY sex reversal 9",MONDO:0014480,,,"46,XY sex reversal 9",DOID:0111770,,OMIM ID:616067 | OMIM ID:603693 +BMGC_DS15556,BMG_DS058387,"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2",UMLS ID:C4015130,,,,,"inflammatory skin and bowel disease, neonatal, 2",MONDO:0014481,,,,,,OMIM ID:616069 | OMIM ID:131550 +BMGC_DS15557,BMG_DS058388,,UMLS ID:C4015141,,,,,"intellectual disability, autosomal dominant 29",MONDO:0014482,,,,,,OMIM ID:616078 +BMGC_DS15558,BMG_DS058389,,UMLS ID:C4015146,,,,,retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,MONDO:0014483,,,,,,OMIM ID:616079 +BMGC_DS15559,BMG_DS058390,"MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4015156,,,,,"microcephaly 12, primary, autosomal recessive",MONDO:0014484,,,primary autosomal recessive microcephaly 12,DOID:0070284,,OMIM ID:616080 | OMIM ID:603368 +BMGC_DS15560,BMG_DS058391,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1C",UMLS ID:C4015160,,,,,"pontocerebellar hypoplasia, type 1C",MONDO:0014485,,,pontocerebellar hypoplasia type 1C,DOID:0112334,,OMIM ID:616081 | OMIM ID:606019 +BMGC_DS15561,BMG_DS058392,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 30, WITH SPEECH DELAY AND BEHAVIORAL ABNORMALITIES",UMLS ID:C4015167,,,,,"intellectual disability, autosomal dominant 30",MONDO:0014486,,,autosomal dominant intellectual developmental disorder 30,DOID:0070060,,OMIM ID:616083 | OMIM ID:608668 +BMGC_DS15562,BMG_DS058393,"SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",UMLS ID:C4015172,,,,,congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,MONDO:0014487,,,"sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay",DOID:0080209,,OMIM ID:616084 | OMIM ID:612907 +BMGC_DS15563,BMG_DS058394,TYPE 2 DIABETES 5,UMLS ID:C4015183,,,,,"diabetes mellitus, noninsulin-dependent, 5",MONDO:0014488,,,,,,OMIM ID:616087 +BMGC_DS15564,BMG_DS058395,Limb girdle muscular dystrophy due to POMK deficiency,UMLS ID:C4015184,Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency | Limb girdle muscular dystrophy due to POMK deficiency | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder),SNOMEDCT ID:1234819007,,,limb-girdle muscular dystrophy due to POMK deficiency,MONDO:0014489,,,,,,OMIM ID:616094 +BMGC_DS15565,BMG_DS058396,Ketoacidosis due to monocarboxylate transporter-1 deficiency,UMLS ID:C4015186,Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) | Ketoacidosis due to monocarboxylate transporter-1 deficiency,SNOMEDCT ID:1216941002,,,ketoacidosis due to monocarboxylate transporter-1 deficiency,MONDO:0014490,,,,,,OMIM ID:616095 +BMGC_DS15566,BMG_DS058397,IMMUNODEFICIENCY 37,UMLS ID:C4015195,,,,,immunodeficiency 37,MONDO:0014491,,,immunodeficiency 37,DOID:0111939,,OMIM ID:616098 | OMIM ID:603517 +BMGC_DS15567,BMG_DS058398,PALMOPLANTAR KERATODERMA AND WOOLLY HAIR,UMLS ID:C4015202,,,,,wooly hair-palmoplantar keratoderma syndrome,MONDO:0014492,,,palmoplantar keratoderma and woolly hair,DOID:0070554,,OMIM ID:616099 | OMIM ID:614610 +BMGC_DS15568,BMG_DS058399,,UMLS ID:C4015214,,,,,autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency,MONDO:0014493,,,,,,OMIM ID:616100 +BMGC_DS15569,BMG_DS058401,,UMLS ID:C4015235,,,,,"psoriasis 15, pustular, susceptibility to",MONDO:0014494,,,,,,OMIM ID:616106 +BMGC_DS15570,BMG_DS058402,"Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome",UMLS ID:C4015242,"Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome (disorder) | Retinal dystrophy, juvenile cataract, short stature syndrome",SNOMEDCT ID:1220597000,,,retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,MONDO:0014495,,,,,,OMIM ID:616108 +BMGC_DS15571,BMG_DS058403,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9",UMLS ID:C4015253,,,,,mitochondrial complex III deficiency nuclear type 9,MONDO:0014496,,,mitochondrial complex III deficiency nuclear type 9,DOID:0080118,,OMIM ID:616111 | OMIM ID:616097 +BMGC_DS15572,BMG_DS058404,Polyendocrine polyneuropathy syndrome,UMLS ID:C4015261,Polyendocrine polyneuropathy syndrome (disorder) | Polyendocrine polyneuropathy syndrome | PEPNS - polyendocrine polyneuropathy syndrome,SNOMEDCT ID:1260449002,,,polyendocrine-polyneuropathy syndrome,MONDO:0014497,,,,,,OMIM ID:616113 +BMGC_DS15573,BMG_DS058405,FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4,UMLS ID:C4015276,,,,,familial cold autoinflammatory syndrome 4,MONDO:0014498,,,,,,OMIM ID:606831 | OMIM ID:616115 +BMGC_DS15574,BMG_DS058406,,UMLS ID:C4015283,,,,,"intellectual disability, autosomal recessive 46",MONDO:0014499,,,,,,OMIM ID:616116 +BMGC_DS15575,BMG_DS058407,CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY,UMLS ID:C4015285,,,,,atrial conduction disease,MONDO:0014500,,,,,,OMIM ID:616117 | OMIM ID:613932 +BMGC_DS15576,BMG_DS058408,"MACULAR DEGENERATION, EARLY-ONSET",UMLS ID:C4015286,,,,,"macular degeneration, early-onset",MONDO:0014501,,,,,,OMIM ID:616118 | OMIM ID:612570 +BMGC_DS15577,BMG_DS058409,IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION,UMLS ID:C4015293,,,,,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,MONDO:0014502,,,immunodeficiency 38,DOID:0111934,,OMIM ID:616126 | OMIM ID:147571 +BMGC_DS15578,BMG_DS058411,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,UMLS ID:C4015301,Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | SCAR17 - spinocerebellar ataxia autosomal recessive type 17 | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency,SNOMEDCT ID:1237625002,,,autosomal recessive spinocerebellar ataxia 17,MONDO:0014503,,,,,,OMIM ID:616127 +BMGC_DS15579,BMG_DS058412,PERRAULT SYNDROME 5,UMLS ID:C4015307,,,,,Perrault syndrome 5,MONDO:0014504,,,,,,OMIM ID:616138 | OMIM ID:606075 +BMGC_DS15580,BMG_DS058413,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27",UMLS ID:C4015316,,,,,"developmental and epileptic encephalopathy, 27",MONDO:0014505,,,developmental and epileptic encephalopathy 27,DOID:0080444,,OMIM ID:616139 +BMGC_DS15581,BMG_DS058414,RARS-related autosomal recessive hypomyelinating leukodystrophy,UMLS ID:C4015323,Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy | RARS-related autosomal recessive hypomyelinating leucodystrophy | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) | RARS-related autosomal recessive hypomyelinating leukodystrophy | Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leucodystrophy,SNOMEDCT ID:1220600004,,,hypomyelinating leukodystrophy 9,MONDO:0014506,,,,,,OMIM ID:616140 +BMGC_DS15582,BMG_DS058416,"MACULAR DYSTROPHY, VITELLIFORM, 4",UMLS ID:C4015342,,,,,vitelliform macular dystrophy 4,MONDO:0014508,,,,,,OMIM ID:616151 | OMIM ID:602870 +BMGC_DS15583,BMG_DS058417,"MACULAR DYSTROPHY, VITELLIFORM, 5",UMLS ID:C4015343,,,,,vitelliform macular dystrophy 5,MONDO:0014509,,,,,,OMIM ID:607056 | OMIM ID:616152 +BMGC_DS15584,BMG_DS058418,Fatty acyl-CoA reductase 1 deficiency,UMLS ID:C4015344,Fatty acyl-coenzyme A reductase 1 deficiency (disorder) | FAR1 deficiency | Fatty acyl-CoA reductase 1 deficiency | PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder | Fatty acyl-coenzyme A reductase 1 deficiency,SNOMEDCT ID:1237619001,,,fatty acyl-CoA reductase 1 deficiency,MONDO:0014510,,,,,,OMIM ID:616154 +BMGC_DS15585,BMG_DS058419,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",UMLS ID:C4015349,,,,,Charcot-Marie-Tooth disease axonal type 2S,MONDO:0014511,,,Charcot-Marie-Tooth disease axonal type 2S,DOID:0110171,,OMIM ID:616155 | OMIM ID:600502 +BMGC_DS15586,BMG_DS058420,"NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES",UMLS ID:C4015357,,,,,,,,,autosomal dominant intellectual developmental disorder 31,DOID:0070061,,OMIM ID:616158 | OMIM ID:600473 +BMGC_DS15587,BMG_DS058421,NEMALINE MYOPATHY 10,UMLS ID:C4015360,,,,,nemaline myopathy 10,MONDO:0014513,,,nemaline myopathy 10,DOID:0110931,,OMIM ID:616165 | OMIM ID:616112 +BMGC_DS15588,BMG_DS058422,"AORTIC ANEURYSM, FAMILIAL THORACIC 9",UMLS ID:C4015368,,,,,"aortic aneurysm, familial thoracic 9",MONDO:0014514,,,,,,OMIM ID:616166 | OMIM ID:601103 +BMGC_DS15589,BMG_DS058423,MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT,UMLS ID:C4015371,,,,,macular dystrophy with central cone involvement,MONDO:0014515,,,,,,OMIM ID:616170 | OMIM ID:611124 +BMGC_DS15590,BMG_DS058424,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2",UMLS ID:C4015388,,,,,microcephaly and chorioretinopathy 2,MONDO:0014516,,,microcephaly and chorioretinopathy 2,DOID:0080106,,OMIM ID:616171 | OMIM ID:605031 +BMGC_DS15591,BMG_DS058425,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9",UMLS ID:C4015395,,,,,"generalized epilepsy with febrile seizures plus, type 9",MONDO:0014517,,,generalized epilepsy with febrile seizures plus 9,DOID:0111301,,OMIM ID:601485 | OMIM ID:616172 +BMGC_DS15592,BMG_DS058426,"BLEEDING DISORDER, PLATELET-TYPE, 19",UMLS ID:C4015405,,,,,platelet-type bleeding disorder 19,MONDO:0014518,,,,,,OMIM ID:176893 | OMIM ID:616176 +BMGC_DS15593,BMG_DS058427,OVARIAN DYSGENESIS 4,UMLS ID:C4015409,,,,,"46,XX ovarian dysgenesis-short stature syndrome",MONDO:0014520,,,ovarian dysgenesis 4,DOID:0080496,,OMIM ID:610098 | OMIM ID:616185 +BMGC_DS15594,BMG_DS058428,Progressive myoclonic epilepsy type 7,UMLS ID:C4015420,Progressive myoclonus epilepsy type 7 | Progressive myoclonic epilepsy due to KV3.1 deficiency | Progressive myoclonic epilepsy type 7 | EPM7 - epilepsy progressive myoclonic 7 | Progressive myoclonic epilepsy type 7 (disorder),SNOMEDCT ID:1208939001,,,progressive myoclonic epilepsy type 7,MONDO:0014521,,,progressive myoclonus epilepsy 7,DOID:0111447,,OMIM ID:616187 +BMGC_DS15595,BMG_DS058429,RETINAL DYSTROPHY AND OBESITY,UMLS ID:C4015424,,,,,retinal dystrophy and obesity,MONDO:0014522,,,,,,OMIM ID:601197 | OMIM ID:616188 +BMGC_DS15596,BMG_DS058430,"Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome",UMLS ID:C4015436,"Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) | Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome | Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome | Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome",SNOMEDCT ID:1255271005,,,juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,MONDO:0014523,,,,,,OMIM ID:616192 +BMGC_DS15597,BMG_DS058432,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 47",UMLS ID:C4015444,,,,,"intellectual disability, autosomal recessive 47",MONDO:0014524,,,autosomal recessive intellectual developmental disorder 47,DOID:0081211,,OMIM ID:606373 | OMIM ID:616193 +BMGC_DS15598,BMG_DS058433,Polyglucosan body myopathy type 2,UMLS ID:C4015452,Polyglucosan body myopathy type 2 | Polyglucosan body myopathy type 2 (disorder) | PGBM2 - polyglucosan body myopathy type 2,SNOMEDCT ID:1228849007,,,polyglucosan body myopathy type 2,MONDO:0014526,,,,,,OMIM ID:616199 +BMGC_DS15599,BMG_DS058434,"Progeroid features, hepatocellular carcinoma predisposition syndrome",UMLS ID:C4015461,"Progeroid features, hepatocellular carcinoma predisposition syndrome | Ruijs Aalfs syndrome | Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder)",SNOMEDCT ID:1216939003,,,progeroid features-hepatocellular carcinoma predisposition syndrome,MONDO:0014527,,,,,,OMIM ID:616200 +BMGC_DS15600,BMG_DS058435,Chronic atrial and intestinal dysrhythmia,UMLS ID:C4015474,Chronic atrial and intestinal dysrhythmia (disorder) | Chronic atrial and intestinal dysrhythmia | CAID (chronic atrial and intestinal dysrhythmia) syndrome,SNOMEDCT ID:720507006,,,chronic atrial and intestinal dysrhythmia,MONDO:0014528,,,,,,OMIM ID:616201 +BMGC_DS15601,BMG_DS058437,CEREBELLOFACIODENTAL SYNDROME,UMLS ID:C4015495,,,,,cerebellar-facial-dental syndrome,MONDO:0014529,,,cerebellofaciodental syndrome,DOID:0080898,,OMIM ID:604902 | OMIM ID:616202 +BMGC_DS15602,BMG_DS058438,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18",UMLS ID:C4015505,,,,,autosomal recessive spinocerebellar ataxia 18,MONDO:0014530,,,autosomal recessive spinocerebellar ataxia 18,DOID:0080042,,OMIM ID:616204 | OMIM ID:602368 +BMGC_DS15603,BMG_DS058439,AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,UMLS ID:C4015512,,,,,amyotrophic lateral sclerosis type 22,MONDO:0014531,,,amyotrophic lateral sclerosis type 22,DOID:0060355,,OMIM ID:616208 +BMGC_DS15604,BMG_DS058440,Autosomal dominant mitochondrial myopathy with exercise intolerance,UMLS ID:C4015513,Autosomal dominant mitochondrial myopathy with exercise intolerance | Autosomal dominant mitochondrial myopathy with exercise intolerance (disorder),SNOMEDCT ID:1222644009,,,autosomal dominant mitochondrial myopathy with exercise intolerance,MONDO:0014532,,,,,,OMIM ID:616209 +BMGC_DS15605,BMG_DS058441,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",UMLS ID:C4015519,,,,,"developmental and epileptic encephalopathy, 28",MONDO:0014533,,,developmental and epileptic encephalopathy 28,DOID:0080452,,OMIM ID:616211 +BMGC_DS15606,BMG_DS058442,,UMLS ID:C4015525,,,,,lissencephaly 6 with microcephaly,MONDO:0014534,,,,,,OMIM ID:616212 +BMGC_DS15607,BMG_DS058443,THROMBOCYTOPENIA 5,UMLS ID:C4015537,,,,,thrombocytopenia 5,MONDO:0014536,,,,,,OMIM ID:616216 | OMIM ID:600618 +BMGC_DS15608,BMG_DS058444,NEPHRONOPHTHISIS 19,UMLS ID:C4015542,,,,,nephronophthisis 19,MONDO:0014537,,,nephronophthisis 19,DOID:0111126,,OMIM ID:616217 | OMIM ID:605755 +BMGC_DS15609,BMG_DS058445,"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5",UMLS ID:C4015552,,,,,"fibrosis of extraocular muscles, congenital, 5",MONDO:0014538,,,congenital fibrosis of the extraocular muscles 5,DOID:0081020,,OMIM ID:610004 | OMIM ID:616219 +BMGC_DS15610,BMG_DS058446,FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9,UMLS ID:C4015555,,,,,focal segmental glomerulosclerosis 9,MONDO:0014539,,,,,,OMIM ID:609720 | OMIM ID:616220 +BMGC_DS15611,BMG_DS058447,"AMELOGENESIS IMPERFECTA, TYPE IH",UMLS ID:C4015557,,,,,amelogenesis imperfecta type 1H,MONDO:0014540,,,,,,OMIM ID:147558 | OMIM ID:616221 +BMGC_DS15612,BMG_DS058448,Temple syndrome,UMLS ID:C4015558,Temple syndrome (disorder) | Temple syndrome,SNOMEDCT ID:778012003,,,motor developmental delay due to 14q32.2 paternally expressed gene defect,MONDO:0014541,,MeSH ID:C000726750,Temple syndrome,DOID:0111713,,OMIM ID:616222 +BMGC_DS15613,BMG_DS058449,"MYASTHENIC SYNDROME, CONGENITAL, 15",UMLS ID:C4015596,,,,,congenital myasthenic syndrome 15,MONDO:0014542,,,congenital myasthenic syndrome 15,DOID:0110658,,OMIM ID:612866 | OMIM ID:616227 +BMGC_DS15614,BMG_DS058450,"MYASTHENIC SYNDROME, CONGENITAL, 14",UMLS ID:C4015597,,,,,congenital myasthenic syndrome 14,MONDO:0014543,,,congenital myasthenic syndrome 14,DOID:0110669,,OMIM ID:607905 | OMIM ID:616228 +BMGC_DS15615,BMG_DS058451,"OSTEOGENESIS IMPERFECTA, TYPE XVI",UMLS ID:C4015610,,,,,osteogenesis imperfecta type 16,MONDO:0014544,,,,,,OMIM ID:616215 | OMIM ID:616229 +BMGC_DS15616,BMG_DS058452,"MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",UMLS ID:C4015624,,,,,myopathy due to calsequestrin and SERCA1 protein overload,MONDO:0014546,,,,,,OMIM ID:114250 | OMIM ID:616231 +BMGC_DS15617,BMG_DS058453,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T",UMLS ID:C4015635,,,,,Charcot-Marie-Tooth disease axonal type 2T,MONDO:0014866,,,,,,OMIM ID:617017 | OMIM ID:617017 | OMIM ID:616233 | OMIM ID:120520 +BMGC_DS15618,BMG_DS058454,Combined oxidative phosphorylation defect type 24,UMLS ID:C4015643,Combined oxidative phosphorylation defect type 24 | Combined oxidative phosphorylation defect type 24 (disorder) | COXPD24 - combined oxidative phosphorylation defect type 24,SNOMEDCT ID:1222680009,,,combined oxidative phosphorylation defect type 24,MONDO:0014547,,,,,,OMIM ID:616239 +BMGC_DS15619,BMG_DS058455,LONG QT SYNDROME 14,UMLS ID:C4015671,,,,,long QT syndrome 14,MONDO:0014548,,,,,,OMIM ID:616247 | OMIM ID:114180 +BMGC_DS15620,BMG_DS058456,LETHAL CONGENITAL CONTRACTURE SYNDROME 6,UMLS ID:C4015686,,,,,lethal congenital contracture syndrome 6,MONDO:0014549,,,,,,OMIM ID:616248 | OMIM ID:613915 +BMGC_DS15621,BMG_DS058457,LONG QT SYNDROME 15,UMLS ID:C4015695,,,,,long QT syndrome 15,MONDO:0014550,,,,,,OMIM ID:616249 | OMIM ID:114182 +BMGC_DS15622,BMG_DS058458,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,UMLS ID:C4015701,Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome | Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder) | Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,SNOMEDCT ID:1237342004,,,lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,MONDO:0014552,,,,,,OMIM ID:616258 +BMGC_DS15623,BMG_DS058459,TENORIO SYNDROME,UMLS ID:C4015710,,,,,Tenorio syndrome,MONDO:0014553,,,,,,OMIM ID:610432 | OMIM ID:616260 +BMGC_DS15624,BMG_DS058460,"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1",UMLS ID:C4015728,,,,,"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1",MONDO:8000012,,,,,,OMIM ID:616263 | OMIM ID:608625 +BMGC_DS15625,BMG_DS058461,PEELING SKIN SYNDROME 3,UMLS ID:C4015729,,,,,peeling skin syndrome type A,MONDO:0014555,,,peeling skin syndrome 3,DOID:0070522,,OMIM ID:616265 +BMGC_DS15626,BMG_DS058464,"OSTEOGENESIS IMPERFECTA, MILD",UMLS ID:C4015953,,,,,,,,,,,,OMIM ID:120160 +BMGC_DS15627,BMG_DS058466,Neonatal Marfan syndrome,UMLS ID:C4016054,Neonatal Marfan syndrome | Neonatal Marfan syndrome (disorder),SNOMEDCT ID:763839005,,,neonatal Marfan syndrome,MONDO:0017309,,,,,, +BMGC_DS15628,BMG_DS058469,"ALPHA-THALASSEMIA, HMONG TYPE",UMLS ID:C4016158,,,,,,,,,,,,OMIM ID:141850 +BMGC_DS15629,BMG_DS058470,"EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE",UMLS ID:C4016235,,,,,,,,,,,,OMIM ID:148040 | OMIM ID:619555 +BMGC_DS15630,BMG_DS058472,,UMLS ID:C4016255,,,,,"exfoliation syndrome, susceptibility to",MONDO:0100046,,,,,,OMIM ID:177650 +BMGC_DS15631,BMG_DS058474,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,UMLS ID:C4016301,Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder) | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | CBL (Cbl proto-oncogene) syndrome,SNOMEDCT ID:783143001,,,,,,,,,, +BMGC_DS15632,BMG_DS058475,Autosomal recessive central core disease,UMLS ID:C4016368,Autosomal recessive central core disease | Autosomal recessive central core disease (disorder) | Autosomal recessive central core myopathy,SNOMEDCT ID:1201862006,,,,,,,,,, +BMGC_DS15633,BMG_DS058476,"ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL",UMLS ID:C4016380,,,,,,,,,,,,OMIM ID:182870 | OMIM ID:617948 +BMGC_DS15634,BMG_DS058479,"RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS",UMLS ID:C4016429,,,,,,,,,,,,OMIM ID:192132 | OMIM ID:267300 +BMGC_DS15635,BMG_DS058481,,UMLS ID:C4016601,,,,,myelodysplastic syndrome with ring sideroblasts,MONDO:0019157,,,,,, +BMGC_DS15636,BMG_DS058484,IMMUNODEFICIENCY 32B,UMLS ID:C4016741,,,,,immunodeficiency 32B,MONDO:0009194,,,immunodeficiency 32B,DOID:0111985,,OMIM ID:601565 | OMIM ID:226990 | OMIM ID:614894 | OMIM ID:226990 +BMGC_DS15637,BMG_DS058485,,UMLS ID:C4016819,,,,,Imerslund-Grasbeck syndrome type 1,MONDO:0100156,,,,,,OMIM ID:261100 +BMGC_DS15638,BMG_DS058487,IMERSLUND-GRASBECK SYNDROME 2,UMLS ID:C4016948,,,,,Imerslund-Grasbeck syndrome type 2,MONDO:0100157,,,,,,OMIM ID:618882 | OMIM ID:605799 +BMGC_DS15639,BMG_DS058488,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5",UMLS ID:C4016970,,,,,,,,,,,,OMIM ID:606596 +BMGC_DS15640,BMG_DS058491,"GALACTOSEMIA III, SEVERE",UMLS ID:C4017048,,,,,,,,,,,,OMIM ID:606953 +BMGC_DS15641,BMG_DS058492,,UMLS ID:C4017127,,,,,mild Canavan disease,MONDO:0017831,,,,,, +BMGC_DS15642,BMG_DS058493,"TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE",UMLS ID:C4017171,,,,,"trichothiodystrophy 3, photosensitive",MONDO:0014619,,,photosensitive trichothiodystrophy 3,DOID:0111871,,OMIM ID:616395 | OMIM ID:608780 +BMGC_DS15643,BMG_DS058495,,UMLS ID:C4017190,,,,,"17-alpha-hydroxylase/17,20-lyase deficiency, combined partial",MONDO:0800380,,,,,, +BMGC_DS15644,BMG_DS058498,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES",UMLS ID:C4017377,,,,,"spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",MONDO:0010075,,,spondyloepimetaphyseal dysplasia with joint laxity type 1,DOID:0112198,,OMIM ID:271640 +BMGC_DS15645,BMG_DS058501,HEINZ BODY HEMOLYTIC ANEMIA,UMLS ID:C4017465,,,,,,,,,,,,OMIM ID:141900 | OMIM ID:141800 +BMGC_DS15646,BMG_DS058502,,UMLS ID:C4017540,,,,,"allergic rhinitis, susceptibility to",MONDO:0100177,,,,,,OMIM ID:607154 +BMGC_DS15647,BMG_DS058520,Mitochondrial Dysfunction,UMLS ID:C4021734,,,,,,,Mitochondrial Diseases,MeSH ID:D028361,,,, +BMGC_DS15648,BMG_DS058521,Generalized myoclonic seizure,UMLS ID:C4021759,Generalized myoclonic seizure | Generalised myoclonic seizure | Generalized onset myoclonic epileptic seizure (finding) | Generalised onset myoclonic epileptic seizure | Generalized onset myoclonic epileptic seizure | Generalised-onset myoclonic epileptic seizure | Generalized-onset myoclonic epileptic seizure,SNOMEDCT ID:1208972001,,,,,,,,,, +BMGC_DS15649,BMG_DS058522,,UMLS ID:C4021765,,,,,central nervous system disorder,MONDO:0002602,,,,,, +BMGC_DS15650,BMG_DS058523,,UMLS ID:C4021780,,,,,liver disorder,MONDO:0005154,,,,,, +BMGC_DS15651,BMG_DS058525,,UMLS ID:C4021818,,,,,ovarian disorder,MONDO:0005558,,,,,, +BMGC_DS15652,BMG_DS058541,Obstructive azoospermia,UMLS ID:C4023106,,,,,,,,,,,,OMIM ID:MTHU072476 +BMGC_DS15653,BMG_DS058545,Thyroid hemiagenesis,UMLS ID:C4023190,Congenital absence of half of thyroid (disorder) | Congenital absence of half of thyroid | Congenital hemiagenesis of thyroid | Thyroid hemiagenesis,SNOMEDCT ID:715734006,,,thyroid hemiagenesis,MONDO:0019860,,,,,, +BMGC_DS15654,BMG_DS058554,Myoclonic absence seizure,UMLS ID:C4023512,Myoclonic absence seizure | Myoclonic absence seizure (finding),SNOMEDCT ID:1208629005,,,,,,,,,, +BMGC_DS15655,BMG_DS058558,,UMLS ID:C4023704,,,,,acromial dimples,MONDO:0007054,,,,,,OMIM ID:102350 +BMGC_DS15656,BMG_DS058566,,UMLS ID:C4024851,,,,,punctate palmoplantar keratoderma,MONDO:0017675,,,,,, +BMGC_DS15657,BMG_DS058567,,UMLS ID:C4024880,,,,,"ectodermal dysplasia 4, hair/nail type",MONDO:0011177,,,,,,OMIM ID:602032 +BMGC_DS15658,BMG_DS058568,Mixed demyelinating and axonal polyneuropathy,UMLS ID:C4024907,,,,,,,,,,,,OMIM ID:MTHU067948 +BMGC_DS15659,BMG_DS058570,Lower limb amyotrophy,UMLS ID:C4024921,,,,,,,,,,,,OMIM ID:MTHU055737 +BMGC_DS15660,BMG_DS058573,Proximal spinal muscular atrophy,UMLS ID:C4024957,,,,,proximal spinal muscular atrophy,MONDO:0019079,,,,,,OMIM ID:MTHU078224 +BMGC_DS15661,BMG_DS058574,Unilateral polymicrogyria,UMLS ID:C4024960,Unilateral polymicrogyria (disorder) | Unilateral polymicrogyria,SNOMEDCT ID:715905006,,,unilateral polymicrogyria,MONDO:0017092,,,,,, +BMGC_DS15662,BMG_DS058579,Vasculitis of large artery,UMLS ID:C4025218,Vasculitis of large artery (disorder) | Vasculitis of large artery | Large vessel vasculitis,SNOMEDCT ID:724597006,,,,,,,,,, +BMGC_DS15663,BMG_DS058581,Congenital lactic acidosis,UMLS ID:C4025276,,,,,,,,,,,,OMIM ID:MTHU073510 +BMGC_DS15664,BMG_DS058582,,UMLS ID:C4025295,,,,,hypertrichosis cubiti-short stature syndrome,MONDO:0007693,,,,,,OMIM ID:139600 +BMGC_DS15665,BMG_DS058586,,UMLS ID:C4025790,,,,,specific learning disability,MONDO:0016225,,,,,, +BMGC_DS15666,BMG_DS058588,,UMLS ID:C4025831,,,,,peripheral nervous system disorder,MONDO:0003620,,,,,, +BMGC_DS15667,BMG_DS058589,,UMLS ID:C4025836,,,,,optic choroid disorder,MONDO:0001898,,,,,, +BMGC_DS15668,BMG_DS058621,Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome,UMLS ID:C4038730,,,,,,,Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome,MeSH ID:D000080445,,,, +BMGC_DS15669,BMG_DS058636,Gastric hemorrhage due to angiodysplasia of stomach,UMLS ID:C4038767,Gastric hemorrhage due to angiodysplasia of stomach (disorder) | Gastric hemorrhage due to angiodysplasia of stomach | Gastric haemorrhage due to angiodysplasia of stomach,SNOMEDCT ID:1082711000119108,,,,,,,,,, +BMGC_DS15670,BMG_DS058840,Acute Hypoxemic Respiratory Failure,UMLS ID:C4039867,,,,,,,Respiratory Insufficiency,MeSH ID:D012131,,,, +BMGC_DS15671,BMG_DS058948,Acute Hypercapnic Respiratory Failure,UMLS ID:C4040419,,,,,,,Respiratory Insufficiency,MeSH ID:D012131,,,, +BMGC_DS15672,BMG_DS058965,Bronchopneumonia caused by Haemophilus influenzae,UMLS ID:C4040491,Bronchopneumonia caused by Haemophilus influenzae | Bronchopneumonia caused by Haemophilus influenzae (disorder),SNOMEDCT ID:10625231000119106,,,,,,,,,, +BMGC_DS15673,BMG_DS059003,"3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",UMLS ID:C4040739,"MEGDEL syndrome | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",SNOMEDCT ID:711409002,,,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",MONDO:0013875,,,,,,OMIM ID:614739 +BMGC_DS15674,BMG_DS059148,"Cone-rod synaptic disorder, congenital nonprogressive",UMLS ID:C4041558,,,,,"cone-rod synaptic disorder, congenital nonprogressive",MONDO:0012490,,MeSH ID:C536122,,,,OMIM ID:610427 +BMGC_DS15675,BMG_DS059341,Autosomal dominant hypocalcemia,UMLS ID:C4048195,Autosomal dominant hypocalcemia (disorder) | Autosomal dominant hypocalcemia | Autosomal dominant hypocalcaemia | Familial hypocalcemia | Familial hypocalcaemia | Autosomal dominant hypoparathyroidism | Familial hypercalciuric hypocalcemia | Familial hypercalciuric hypocalcaemia,SNOMEDCT ID:711152006,,,autosomal dominant hypocalcemia,MONDO:0018543,,,,,ICD10 ID:E20.810, +BMGC_DS15676,BMG_DS059342,beta-Mannosidosis,UMLS ID:C4048196,,,,,beta-mannosidosis,MONDO:0009562,beta-Mannosidosis,MeSH ID:D044905,beta-mannosidosis,DOID:3633,,OMIM ID:248510 +BMGC_DS15677,BMG_DS059343,Hydronephrosis Due To Pujo,UMLS ID:C4048262,,,,,,,,MeSH ID:C537373,,,, +BMGC_DS15678,BMG_DS059344,Chorioretinal atrophy,UMLS ID:C4048273,Chorioretinal atrophy | Chorioretinal atrophy (disorder),SNOMEDCT ID:95686007,,,,,,,,,,OMIM ID:MTHU018963 +BMGC_DS15679,BMG_DS059348,,UMLS ID:C4048306,,,,,multiple endocrine neoplasia type 2,MONDO:0019003,,,,,, +BMGC_DS15680,BMG_DS059349,,UMLS ID:C4048328,,,,,cervical cancer,MONDO:0002974,,,,,,OMIM ID:603956 +BMGC_DS15681,BMG_DS059352,Hypermethioninemia,UMLS ID:C4048705,(Methioninemia) or (hypermethioninemia) | Methioninaemia | (Methioninaemia) or (hypermethioninaemia) | Hypermethioninemia | Hypermethioninaemia | (Methioninaemia) or (hypermethioninaemia) (disorder) | Hypermethioninemia | Hypermethioninaemia | Hypermethioninemia (disorder),SNOMEDCT ID:190708000 | SNOMEDCT ID:43123004,,,disorder of methionine catabolism,MONDO:0000351,,MeSH ID:C564683,hypermethioninemia,DOID:0050544,,OMIM ID:MTHU003943 +BMGC_DS15682,BMG_DS059353,Juvenile seropositive polyarthritis,UMLS ID:C4048747,"Juvenile seropositive polyarthritis (disorder) | Juvenile seropositive polyarthritis | Juvenile rheumatoid arthritis, seropositive | Juvenile idiopathic arthritis, polyarthritis, rheumatoid factor positive | Juvenile seropositive arthritis | Juvenile chronic arthritis, polyarticular seropositive",SNOMEDCT ID:410796000,,,,,,,,,, +BMGC_DS15683,BMG_DS059354,Sphincter of Oddi Dyskinesia,UMLS ID:C4048750,,,,,,,Sphincter of Oddi Dysfunction,MeSH ID:D046628,,,, +BMGC_DS15684,BMG_DS059355,,UMLS ID:C4048809,,,,,SMARCB1-related schwannomatosis,MONDO:0024517,,,,,,OMIM ID:162091 +BMGC_DS15685,BMG_DS059357,CATARACT 40,UMLS ID:C4049004,,,,,cataract 40,MONDO:0010544,,,,,,OMIM ID:302200 | OMIM ID:300457 +BMGC_DS15686,BMG_DS059359,,UMLS ID:C4049066,,,,,cone-rod dystrophy 21,MONDO:0014669,,,,,,OMIM ID:616502 +BMGC_DS15687,BMG_DS059360,,UMLS ID:C4049090,,,,,"alopecia, androgenetic, 1",MONDO:0007184,,,,,,OMIM ID:109200 +BMGC_DS15688,BMG_DS059361,Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency,UMLS ID:C4049241,Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency (disorder) | Body skin hyperlaxity due to vitamin K dependent coagulation factor deficiency | PXE (pseudoxanthoma elasticum) like syndrome | Pseudoxanthoma elasticum-like syndrome,SNOMEDCT ID:717941005,,,,,,,,,, +BMGC_DS15689,BMG_DS059365,,UMLS ID:C4049328,,,,,kidney medullary carcinoma,MONDO:0006260,,,SMARCB1-deficient renal medullary carcinoma,DOID:0070475,, +BMGC_DS15690,BMG_DS059372,,UMLS ID:C4049650,,,,,glucocorticoid deficiency 1,MONDO:0024536,,,,,,OMIM ID:202200 +BMGC_DS15691,BMG_DS059373,,UMLS ID:C4049714,,,,,glucocorticoid deficiency 2,MONDO:0011826,,,,,,OMIM ID:607398 +BMGC_DS15692,BMG_DS059378,Pituitary stalk interruption syndrome,UMLS ID:C4053775,Pituitary stalk interruption syndrome (disorder) | Pituitary stalk interruption syndrome | Ectopic neurohypophysis,SNOMEDCT ID:715727009,,,pituitary stalk interruption syndrome,MONDO:0019828,,,,,,OMIM ID:MTHU074262 +BMGC_DS15693,BMG_DS059381,,UMLS ID:C4054476,,,,,inherited obesity,MONDO:0019182,,,,,,OMIM ID:601665 +BMGC_DS15694,BMG_DS059382,,UMLS ID:C4054526,,,,,microcystic/reticular schwannoma,MONDO:0002556,,,macrocystic neurilemmoma,DOID:3203,, +BMGC_DS15695,BMG_DS059384,Familial glucocorticoid deficiency,UMLS ID:C4054695,Familial glucocorticoid deficiency (disorder) | Familial glucocorticoid deficiency,SNOMEDCT ID:765326001,,,familial glucocorticoid deficiency,MONDO:0008733,,,,,, +BMGC_DS15696,BMG_DS059386,Congenital isolated adrenocorticotropic hormone deficiency,UMLS ID:C4055196,Congenital isolated adrenocorticotropic hormone deficiency (disorder) | Congenital isolated adrenocorticotropic hormone deficiency | Congenital isolated ACTH (adrenocorticotropic hormone) deficiency,SNOMEDCT ID:1231283007,,,,,,,,,, +BMGC_DS15697,BMG_DS059388,,UMLS ID:C4055342,,,,,C3 glomerulonephritis,MONDO:0013892,,,,,,OMIM ID:614809 +BMGC_DS15698,BMG_DS059389,,UMLS ID:C4055493,,,,,,,,,acute myeloid leukemia with MNX1-ETV6 fusion,DOID:0070632,, +BMGC_DS15699,BMG_DS059590,Urinary tract infection caused by Klebsiella,UMLS ID:C4076057,Urinary tract infection caused by Klebsiella | Urinary tract infection caused by Klebsiella (disorder),SNOMEDCT ID:369001000119100,,,,,,,,,, +BMGC_DS15700,BMG_DS059722,Autosomal Dominant Hereditary Pancreatitis,UMLS ID:C4080064,,,,,,,,MeSH ID:C537262,,,, +BMGC_DS15701,BMG_DS060005,Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency,UMLS ID:C4082171,,,,,carbamoyl phosphate synthetase I deficiency disease,MONDO:0009376,Carbamoyl-Phosphate Synthase I Deficiency Disease,MeSH ID:D020165,,,,OMIM ID:237300 +BMGC_DS15702,BMG_DS060006,Porencephalic cyst,UMLS ID:C4082172,Porencephalic cyst | Porencephalic cyst (disorder),SNOMEDCT ID:65705009,,,,,,,,,,OMIM ID:MTHU017161 +BMGC_DS15703,BMG_DS060007,Porencephaly,UMLS ID:C4082173,Porencephaly | Porencephaly (disorder),SNOMEDCT ID:193045003,,,porencephaly,MONDO:0017410,Porencephaly,MeSH ID:D065708,,,,OMIM ID:MTHU007068 +BMGC_DS15704,BMG_DS060008,"Thyrotropin deficiency, isolated",UMLS ID:C4082174,,,,,,,,MeSH ID:C000610012,,,, +BMGC_DS15705,BMG_DS060009,Charcot-Marie-Tooth disease type 4,UMLS ID:C4082197,Autosomal recessive demyelinating Charcot-Marie-Tooth | Charcot-Marie-Tooth disease type 4 (disorder) | Charcot-Marie-Tooth disease type 4,SNOMEDCT ID:715795005,,,Charcot-Marie-Tooth disease type 4,MONDO:0018995,,,,,, +BMGC_DS15706,BMG_DS060011,Bulbar palsy,UMLS ID:C4082299,Bulbar palsy | Bulbar palsy (disorder),SNOMEDCT ID:230547002,,,,,,,,,,OMIM ID:MTHU027729 +BMGC_DS15707,BMG_DS060012,Deaf Mutism,UMLS ID:C4082305,,,,,,,Deafness,MeSH ID:D003638,,,, +BMGC_DS15708,BMG_DS060013,Onychomycosis due to dermatophyte,UMLS ID:C4082762,Onychomycosis due to dermatophyte | Tinea of nail | Tinea unguium | Dermatophytosis of nail | Onychomycosis caused by dermatophyte (disorder) | Onychomycosis caused by dermatophyte,SNOMEDCT ID:402134005,,,,,,,,,, +BMGC_DS15709,BMG_DS060017,CHROMOSOME Xp22 DELETION SYNDROME,UMLS ID:C4082794,,,,,,,,,,,,OMIM ID:300830 +BMGC_DS15710,BMG_DS060018,Necrotizing enterocolitis in fetus OR newborn,UMLS ID:C4082937,Necrotizing enterocolitis in fetus OR newborn | Pseudomembranous enterocolitis in newborn | Necrotising enterocolitis in fetus OR newborn | Necrotizing enterocolitis in fetus OR newborn (disorder) | Necrotising enterocolitis | NEC - Necrotising enterocolitis | Necrotizing enterocolitis | NEC - Necrotizing enterocolitis | Necrotising enterocolitis in foetus OR newborn,SNOMEDCT ID:2707005,,,perinatal necrotizing enterocolitis,MONDO:0004639,,,,,, +BMGC_DS15711,BMG_DS060019,,UMLS ID:C4082951,,,,,progressive muscular atrophy,MONDO:0018687,,,,,, +BMGC_DS15712,BMG_DS060020,Dupuytren's Disease,UMLS ID:C4082974,,,,,,,Dupuytren Contracture,MeSH ID:D004387,,,, +BMGC_DS15713,BMG_DS060021,"Guillain-Barre Syndrome, Familial",UMLS ID:C4083008,,,,,"Guillain-Barre syndrome, familial",MONDO:0007691,Guillain-Barre Syndrome,MeSH ID:D020275,,,,OMIM ID:139393 +BMGC_DS15714,BMG_DS060022,,UMLS ID:C4083045,,,,,"Parkinson disease 11, autosomal dominant, susceptibility to",MONDO:0011896,,,,,,OMIM ID:607688 +BMGC_DS15715,BMG_DS060023,SPONDYLOCOSTAL DYSOSTOSIS 5,UMLS ID:C4083048,,,,,spondylocostal dysostosis 5,MONDO:0007389,,,spondylocostal dysostosis 5,DOID:0112363,,OMIM ID:122600 | OMIM ID:602427 +BMGC_DS15716,BMG_DS060025,"Alopecia, Male Pattern",UMLS ID:C4083212,,,,,"baldness, male pattern",MONDO:0800201,Alopecia,MeSH ID:D000505,,,, +BMGC_DS15717,BMG_DS060026,"Trichothiodystrophy, Nonphotosensitive 1",UMLS ID:C4083251,,,,,,,Trichothiodystrophy Syndromes,MeSH ID:D054463,photosensitive trichothiodystrophy | nonphotosensitive trichothiodystrophy 5,DOID:0111868;DOID:2960,, +BMGC_DS15718,BMG_DS060027,"DEAFNESS, AUTOSOMAL DOMINANT 40",UMLS ID:C4084708,,,,,autosomal dominant nonsyndromic hearing loss 40,MONDO:0014603,,,,,,OMIM ID:616357 | OMIM ID:123740 +BMGC_DS15719,BMG_DS060028,"DEAFNESS, AUTOSOMAL RECESSIVE 97",UMLS ID:C4084709,,,,,autosomal recessive nonsyndromic hearing loss 97,MONDO:0014739,,,,,,OMIM ID:164860 | OMIM ID:616705 +BMGC_DS15720,BMG_DS060029,"DEAFNESS, AUTOSOMAL DOMINANT 67",UMLS ID:C4084712,,,,,autosomal dominant nonsyndromic hearing loss 67,MONDO:0014594,,,,,,OMIM ID:606731 | OMIM ID:616340 +BMGC_DS15721,BMG_DS060031,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",UMLS ID:C4084821,,,,,Charcot-Marie-Tooth disease axonal type 2U,MONDO:0014566,,,,,,OMIM ID:156560 | OMIM ID:616280 +BMGC_DS15722,BMG_DS060032,JOUBERT SYNDROME 23,UMLS ID:C4084822,,,,,Joubert syndrome 23,MONDO:0014664,,,Joubert syndrome 23,DOID:0110992,,OMIM ID:610178 | OMIM ID:616490 +BMGC_DS15723,BMG_DS060033,"MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL",UMLS ID:C4084823,,,,,,,,,congenital myasthenic syndrome 1A,DOID:0110663,,OMIM ID:100690 | OMIM ID:601462 +BMGC_DS15724,BMG_DS060034,"FANCONI ANEMIA, COMPLEMENTATION GROUP T",UMLS ID:C4084840,,,,,Fanconi anemia complementation group T,MONDO:0014638,,,Fanconi anemia complementation group T,DOID:0111081,,OMIM ID:616435 | OMIM ID:610538 +BMGC_DS15725,BMG_DS060035,JOUBERT SYNDROME 24,UMLS ID:C4084841,,,,,Joubert syndrome 24,MONDO:0014724,,,Joubert syndrome 24,DOID:0110993,,OMIM ID:616654 | OMIM ID:613846 +BMGC_DS15726,BMG_DS060036,JOUBERT SYNDROME 25,UMLS ID:C4084842,,,,,Joubert syndrome 25,MONDO:0014770,,,Joubert syndrome 25,DOID:0110994,,OMIM ID:616781 | OMIM ID:616690 +BMGC_DS15727,BMG_DS060037,JOUBERT SYNDROME 26,UMLS ID:C4084843,,,,,Joubert syndrome 26,MONDO:0014771,,,Joubert syndrome 26,DOID:0110995,,OMIM ID:616784 | OMIM ID:616650 +BMGC_DS15728,BMG_DS060039,MEND SYNDROME,UMLS ID:C4085243,,,,,MEND syndrome,MONDO:0010498,,,MEND syndrome,DOID:0111865,,OMIM ID:300205 | OMIM ID:300960 +BMGC_DS15729,BMG_DS060040,,UMLS ID:C4085248,,,,,osteofibrous dysplasia,MONDO:0011806,,,,,,OMIM ID:607278 | OMIM ID:609143 +BMGC_DS15730,BMG_DS060041,OPTIC ATROPHY 8,UMLS ID:C4085249,,,,,optic atrophy 8,MONDO:0024569,,,optic atrophy 8,DOID:0111439,,OMIM ID:616648 +BMGC_DS15731,BMG_DS060042,PAGET DISEASE OF BONE 6,UMLS ID:C4085250,,,,,Paget disease of bone 6,MONDO:0014792,,,Paget's disease of bone 6,DOID:0081369,,OMIM ID:616833 | OMIM ID:610568 +BMGC_DS15732,BMG_DS060043,"PAGET DISEASE OF BONE 2, EARLY-ONSET",UMLS ID:C4085251,,,,,"Paget disease of bone 2, early-onset",MONDO:0011183,,,Paget's disease of bone 2,DOID:0081365,,OMIM ID:602080 | OMIM ID:603499 +BMGC_DS15733,BMG_DS060044,PAGET DISEASE OF BONE 3,UMLS ID:C4085252,,,,,Paget disease of bone 3,MONDO:0008176,,,Paget's disease of bone 3,DOID:0081366,,OMIM ID:167250 | OMIM ID:601530 +BMGC_DS15734,BMG_DS060046,"Fibromatosis, Palmar",UMLS ID:C4085370,,,,,palmar fibromatosis,MONDO:0006345,Dupuytren Contracture,MeSH ID:D004387,,,, +BMGC_DS15735,BMG_DS060047,Carbamoyl Phosphate Synthase 1 Deficiency,UMLS ID:C4085580,,,,,,,Carbamoyl-Phosphate Synthase I Deficiency Disease,MeSH ID:D020165,,,, +BMGC_DS15736,BMG_DS060048,Cone-Rod Dystrophies,UMLS ID:C4085590,,,,,cone-rod dystrophy,MONDO:0015993,Cone-Rod Dystrophies,MeSH ID:D000071700,,,, +BMGC_DS15737,BMG_DS060049,AL-RAQAD SYNDROME,UMLS ID:C4085595,,,,,Al-Raqad syndrome,MONDO:0014648,,,,,,OMIM ID:616459 | OMIM ID:610534 +BMGC_DS15738,BMG_DS060050,CHOPS SYNDROME,UMLS ID:C4085597,,,,,cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome,MONDO:0014609,,,,,,OMIM ID:604417 | OMIM ID:616368 +BMGC_DS15739,BMG_DS060051,LUSCAN-LUMISH SYNDROME,UMLS ID:C4085873,,,,,Luscan-Lumish syndrome,MONDO:0014791,,,,,,OMIM ID:612778 | OMIM ID:616831 +BMGC_DS15740,BMG_DS060055,Familial infantile bilateral striatal necrosis,UMLS ID:C4087174,Familial infantile bilateral striatal necrosis | Familial infantile bilateral striatal necrosis (disorder) | Familial infantile striatonigral necrosis | Familial infantile striatonigral degeneration | Familial IBSN (infantile bilateral striatal necrosis),SNOMEDCT ID:1208478005,,,familial infantile bilateral striatal necrosis,MONDO:0010080,,,,,,OMIM ID:271930 +BMGC_DS15741,BMG_DS060060,,UMLS ID:C4087273,,,,,non-immunoglobulin-mediated membranoproliferative glomerulonephritis,MONDO:0018013,,,,,, +BMGC_DS15742,BMG_DS060063,,UMLS ID:C4087347,,,,,autosomal dominant cerebellar ataxia,MONDO:0020380,,,,,, +BMGC_DS15743,BMG_DS060068,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1",UMLS ID:C4225153,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1",MONDO:0009783,,,autosomal recessive progressive external ophthalmoplegia 1,DOID:0111522,,OMIM ID:258450 | OMIM ID:174763 +BMGC_DS15744,BMG_DS060069,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9",UMLS ID:C4225154,,,,,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",MONDO:0014667,,,mitochondrial complex IV deficiency nuclear type 9,DOID:0080359,,OMIM ID:616500 | OMIM ID:613920 +BMGC_DS15745,BMG_DS060070,"ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",UMLS ID:C4225155,,,,,sideroblastic anemia 3,MONDO:0014804,,,autosomal recessive pyridoxine-refractory sideroblastic anemia 3,DOID:0080343,,OMIM ID:616860 +BMGC_DS15746,BMG_DS060071,,UMLS ID:C4225156,,,,,"intellectual disability, autosomal dominant 34",MONDO:0014599,,,,,,OMIM ID:616351 +BMGC_DS15747,BMG_DS060072,FAMILIAL ADENOMATOUS POLYPOSIS 3,UMLS ID:C4225157,,,,,familial adenomatous polyposis 3,MONDO:0014630,,,familial adenomatous polyposis 3,DOID:0080411,,OMIM ID:616415 | OMIM ID:602656 +BMGC_DS15748,BMG_DS060073,Spinocerebellar ataxia type 41,UMLS ID:C4225158,Spinocerebellar ataxia type 41 | Spinocerebellar ataxia type 41 (disorder),SNOMEDCT ID:1208512000,,,spinocerebellar ataxia type 41,MONDO:0014626,,,,,,OMIM ID:616410 +BMGC_DS15749,BMG_DS060074,"REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET",UMLS ID:C4225159,,,,,"myopathy, reducing body, X-linked, childhood-onset",MONDO:0010415,,,reducing body myopathy 1B,DOID:0080687,,OMIM ID:300718 | OMIM ID:300163 +BMGC_DS15750,BMG_DS060075,NUDT15 deficiency,UMLS ID:C4225160,Deficiency of nudix hydrolase 15 | Thiopurine poor metaboliser 2 | NUDT15 deficiency | Thiopurine poor metabolizer 2 | Deficiency of nudix hydrolase 15 (disorder) | Nucleotide diphosphatase deficiency,SNOMEDCT ID:781386002,,,,,,,,,, +BMGC_DS15751,BMG_DS060076,Complex lethal osteochondrodysplasia,UMLS ID:C4225162,Complex lethal osteochondrodysplasia (disorder) | Complex lethal osteochondrodysplasia | Complex lethal osteochondrodysplasia Symoens Barnes Gistelinck type,SNOMEDCT ID:1228858000,,,complex lethal osteochondrodysplasia,MONDO:0014821,,,,,,OMIM ID:616897 +BMGC_DS15752,BMG_DS060077,MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE),UMLS ID:C4225163,,,,,mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type),MONDO:0014820,,,mitochondrial DNA depletion syndrome 14,DOID:0080336,,OMIM ID:616896 +BMGC_DS15753,BMG_DS060078,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3",UMLS ID:C4225164,,,,,autosomal dominant Robinow syndrome 3,MONDO:0014819,,,autosomal dominant Robinow syndrome 3,DOID:0060767,,OMIM ID:601368 | OMIM ID:616894 +BMGC_DS15754,BMG_DS060079,"NEPHROTIC SYNDROME, TYPE 13",UMLS ID:C4225165,,,,,"nephrotic syndrome, type 13",MONDO:0014818,,,nephrotic syndrome type 13,DOID:0080381,,OMIM ID:614352 | OMIM ID:616893 +BMGC_DS15755,BMG_DS060080,"NEPHROTIC SYNDROME, TYPE 12",UMLS ID:C4225166,,,,,"nephrotic syndrome, type 12",MONDO:0014817,,,nephrotic syndrome type 12,DOID:0080387,,OMIM ID:616892 | OMIM ID:614351 +BMGC_DS15756,BMG_DS060081,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 52",UMLS ID:C4225168,,,,,"intellectual disability, autosomal recessive 52",MONDO:0014815,,,autosomal recessive intellectual developmental disorder 52,DOID:0081215,,OMIM ID:616887 | OMIM ID:609552 +BMGC_DS15757,BMG_DS060082,"ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3",UMLS ID:C4225169,,,,,advanced sleep phase syndrome 3,MONDO:0014814,,,advanced sleep phase syndrome 3,DOID:0110013,,OMIM ID:616882 | OMIM ID:603427 +BMGC_DS15758,BMG_DS060083,"LEUKODYSTROPHY, HYPOMYELINATING, 13",UMLS ID:C4225170,,,,,hypomyelinating leukodystrophy 13,MONDO:0014813,,,hypomyelinating leukodystrophy 13,DOID:0060795,,OMIM ID:614908 | OMIM ID:616881 +BMGC_DS15759,BMG_DS060084,"CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION",UMLS ID:C4225172,,,,,"cerebellar atrophy, visual impairment, and psychomotor retardation;",MONDO:0014811,,,"cerebellar atrophy, visual impairment, and psychomotor retardation",DOID:0081276,,OMIM ID:616846 | OMIM ID:616875 +BMGC_DS15760,BMG_DS060085,"IMMUNODEFICIENCY, COMMON VARIABLE, 13",UMLS ID:C4225173,,,,,pancytopenia due to IKZF1 mutations,MONDO:0014810,,,common variable immunodeficiency 13,DOID:0081155,,OMIM ID:603023 | OMIM ID:616873 +BMGC_DS15761,BMG_DS060086,,UMLS ID:C4225174,,,,,DDX41-related hematologic malignancy predisposition syndrome,MONDO:0014809,,,,,,OMIM ID:616871 +BMGC_DS15762,BMG_DS060087,SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2,UMLS ID:C4225176,,,,,spinal muscular atrophy with congenital bone fractures 2,MONDO:0014807,,,,,,OMIM ID:614215 | OMIM ID:616867 +BMGC_DS15763,BMG_DS060088,SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1,UMLS ID:C4225177,,,,,spinal muscular atrophy with congenital bone fractures 1,MONDO:0014806,,,,,,OMIM ID:604501 | OMIM ID:271225 | OMIM ID:616866 | OMIM ID:616866 +BMGC_DS15764,BMG_DS060089,Childhood-onset spasticity with hyperglycinemia,UMLS ID:C4225178,"Childhood-onset spasticity with hyperglycinemia (disorder) | Childhood-onset spasticity with hyperglycinaemia | Childhood-onset spasticity with hyperglycinemia | Childhood-onset spasticity with variant non-ketotic hyperglycinaemia | Spasticity, ataxia, gait anomalies syndrome | Childhood-onset spasticity with variant non-ketotic hyperglycinemia",SNOMEDCT ID:773492007,,,spasticity-ataxia-gait anomalies syndrome,MONDO:0014803,,,,,,OMIM ID:616859 +BMGC_DS15765,BMG_DS060090,COWDEN SYNDROME 7,UMLS ID:C4225179,,,,,Cowden syndrome 7,MONDO:0014802,,,Cowden syndrome 7,DOID:0081003,,OMIM ID:616858 | OMIM ID:610512 +BMGC_DS15766,BMG_DS060091,EVEN-plus syndrome,UMLS ID:C4225180,"Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) | EVEN-plus syndrome | Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome | EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome",SNOMEDCT ID:1260203008,,,even-plus syndrome,MONDO:0014801,,,,,,OMIM ID:616854 +BMGC_DS15767,BMG_DS060092,Progressive scapulohumeroperoneal distal myopathy,UMLS ID:C4225181,Progressive scapulohumeroperoneal distal myopathy (disorder) | Progressive scapulohumeroperoneal distal myopathy,SNOMEDCT ID:1217226000,,,progressive scapulohumeroperoneal distal myopathy,MONDO:0014800,,,,,,OMIM ID:616852 +BMGC_DS15768,BMG_DS060093,CATARACT 45,UMLS ID:C4225182,,,,,cataract 45,MONDO:0014799,,,,,,OMIM ID:616851 | OMIM ID:616655 +BMGC_DS15769,BMG_DS060094,"BRACHYDACTYLY, TYPE A1, D",UMLS ID:C4225183,,,,,brachydactyly type A1D,MONDO:0014798,,,brachydactyly type A1D,DOID:0110978,,OMIM ID:616849 | OMIM ID:603248 +BMGC_DS15770,BMG_DS060095,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,UMLS ID:C4225184,PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalised lymphatic dysplasia with non-immune hydrops fetalis | PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis | Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) | PIEZO1-related generalised lymphatic dysplasia with systemic involvement | PIEZO1-related generalized lymphatic dysplasia with systemic involvement | Generalized lymphatic dysplasia of Fotiou | Generalised lymphatic dysplasia of Fotiou | PIEZO1-related lymphatic-related hydrops fetalis,SNOMEDCT ID:1222667006,,,lymphatic malformation 6,MONDO:0014797,,,,,,OMIM ID:616843 +BMGC_DS15771,BMG_DS060096,,UMLS ID:C4225186,,,,,autosomal recessive early-onset Parkinson disease 23,MONDO:0014796,,,,,,OMIM ID:616840 +BMGC_DS15772,BMG_DS060097,"EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE",UMLS ID:C4225187,,,,,"exercise intolerance, riboflavin-responsive",MONDO:0014795,,,,,,OMIM ID:616839 | OMIM ID:138480 +BMGC_DS15773,BMG_DS060098,MEIER-GORLIN SYNDROME 6,UMLS ID:C4225188,,,,,Meier-Gorlin syndrome 6,MONDO:0014794,,,Meier-Gorlin syndrome 6,DOID:0080517,,OMIM ID:616835 | OMIM ID:602842 +BMGC_DS15774,BMG_DS060099,TMEM199 congenital disorder of glycosylation,UMLS ID:C4225190,Transmembrane protein 199 congenital disorder of glycosylation | Transmembrane protein 199 congenital disorder of glycosylation (disorder) | TMEM199 congenital disorder of glycosylation | Congenital disorder of glycosylation type IIp | TMEM199-CDG - transmembrane protein 199 congenital disorder of glycosylation | CDG (congenital disorder of glycosylation) syndrome type IIp | Carbohydrate deficient glycoprotein syndrome type IIp,SNOMEDCT ID:1208738002,,,TMEM199-CDG,MONDO:0014790,,,,,,OMIM ID:616829 +BMGC_DS15775,BMG_DS060100,CCDC115 congenital disorder of glycosylation,UMLS ID:C4225191,Coiled-coil domain containing 115 congenital disorder of glycosylation | CCDC115-CDG - coiled-coil domain containing 115 congenital disorder of glycosylation | Congenital disorder of glycosylation type 2o | Congenital disorder of glycosylation type IIo | Carbohydrate deficient glycoprotein syndrome type IIo | Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) | CCDC115 congenital disorder of glycosylation,SNOMEDCT ID:1187174002,,,CCDC115-CDG,MONDO:0014789,,,,,,OMIM ID:616828 +BMGC_DS15776,BMG_DS060101,LIMS2-related limb girdle muscular dystrophy,UMLS ID:C4225192,LIMS2-related limb girdle muscular dystrophy | Autosomal recessive limb girdle muscular dystrophy type 2W | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy | Limb girdle muscular dystrophy type 2W | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder),SNOMEDCT ID:1179297007,,,autosomal recessive limb-girdle muscular dystrophy type 2W,MONDO:0014788,,,,,,OMIM ID:616827 +BMGC_DS15777,BMG_DS060102,"Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome",UMLS ID:C4225193,"Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) | Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome",SNOMEDCT ID:1208727002,,,severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,MONDO:0014787,,,,,,OMIM ID:616819 +BMGC_DS15778,BMG_DS060103,,UMLS ID:C4225194,,,,,"IgA nephropathy, susceptibility to, 3",MONDO:0014786,,,,,,OMIM ID:616818 +BMGC_DS15779,BMG_DS060104,"MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2",UMLS ID:C4225195,,,,,"microcephaly, short stature, and impaired glucose metabolism 2",MONDO:0014785,,,,,,OMIM ID:613257 | OMIM ID:616817 +BMGC_DS15780,BMG_DS060105,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION",UMLS ID:C4225196,,,,,severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,MONDO:0014784,,,,,,OMIM ID:616735 | OMIM ID:616816 +BMGC_DS15781,BMG_DS060106,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15,UMLS ID:C4225197,,,,,,,,,,,,OMIM ID:612399 | OMIM ID:616814 +BMGC_DS15782,BMG_DS060107,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6,UMLS ID:C4225201,,,,,hyperphosphatasia with intellectual disability syndrome 6,MONDO:0014780,,,hyperphosphatasia with impaired intellectual development syndrome 6,DOID:0070437,,OMIM ID:610662 | OMIM ID:616809 +BMGC_DS15783,BMG_DS060108,Lamb Shaffer syndrome,UMLS ID:C4225202,SOX5 haploinsufficiency syndrome | Lamb Shaffer syndrome | Lamb Shaffer syndrome (disorder),SNOMEDCT ID:1251453008,,,Lamb-Shaffer syndrome,MONDO:0014778,,,,,,OMIM ID:616803 +BMGC_DS15784,BMG_DS060109,"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2",UMLS ID:C4225203,,,,,"hypotonia, infantile, with psychomotor retardation and characteristic facies 2",MONDO:0014777,,,,,,OMIM ID:612636 | OMIM ID:616801 +BMGC_DS15785,BMG_DS060110,Spinocerebellar ataxia type 42,UMLS ID:C4225205,Spinocerebellar ataxia type 42 | Spinocerebellar ataxia type 42 (disorder),SNOMEDCT ID:1208513005,,,spinocerebellar ataxia type 42,MONDO:0014776,,,,,,OMIM ID:616795 +BMGC_DS15786,BMG_DS060111,,UMLS ID:C4225207,,,,,"neuroblastoma, susceptibility to, 7",MONDO:0014774,,,,,,OMIM ID:616792 +BMGC_DS15787,BMG_DS060112,IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS,UMLS ID:C4225208,,,,,cardiac anomalies - developmental delay - facial dysmorphism syndrome,MONDO:0014773,,,,,,OMIM ID:616789 +BMGC_DS15788,BMG_DS060113,,UMLS ID:C4225209,,,,,orofacial cleft 15,MONDO:0014772,,,,,,OMIM ID:616788 +BMGC_DS15789,BMG_DS060114,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2,UMLS ID:C4225210,,,,,oocyte maturation defect 2,MONDO:0021573,,,,,,OMIM ID:616768 | OMIM ID:616780 +BMGC_DS15790,BMG_DS060115,"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2",UMLS ID:C4225211,,,,,"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2",MONDO:0014768,,,,,,OMIM ID:602194 | OMIM ID:616779 +BMGC_DS15791,BMG_DS060116,SECKEL SYNDROME 9,UMLS ID:C4225212,,,,,Seckel syndrome 9,MONDO:0014767,,,Seckel syndrome 9,DOID:0070005,,OMIM ID:616777 | OMIM ID:605958 +BMGC_DS15792,BMG_DS060117,LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA,UMLS ID:C4225213,,,,,leukodystrophy and acquired microcephaly with or without dystonia;,MONDO:0014766,,,,,,OMIM ID:616763 | OMIM ID:611893 +BMGC_DS15793,BMG_DS060118,"WOOLLY HAIR, AUTOSOMAL RECESSIVE 3",UMLS ID:C4225214,,,,,"wooly hair, autosomal recessive 3",MONDO:0014765,,,autosomal recessive woolly hair 3,DOID:0111574,,OMIM ID:616760 +BMGC_DS15794,BMG_DS060119,SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES,UMLS ID:C4225215,,,,,spastic paraplegia-severe developmental delay-epilepsy syndrome,MONDO:0014764,,,,,,OMIM ID:610876 | OMIM ID:616756 +BMGC_DS15795,BMG_DS060120,"HETEROTAXY, VISCERAL, 7, AUTOSOMAL",UMLS ID:C4225217,,,,,"heterotaxy, visceral, 7, autosomal",MONDO:0014762,,,,,,OMIM ID:616749 | OMIM ID:608416 +BMGC_DS15796,BMG_DS060121,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 1",UMLS ID:C4225218,,,,,"autoinflammatory syndrome, familial, Behcet-like 1",MONDO:0800045,,,familial Behcet-like autoinflammatory syndrome,DOID:0080944,,OMIM ID:616744 | OMIM ID:191163 +BMGC_DS15797,BMG_DS060122,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51",UMLS ID:C4225220,,,,,"intellectual disability, autosomal recessive 51",MONDO:0014759,,,autosomal recessive intellectual developmental disorder 51,DOID:0081214,,OMIM ID:605238 | OMIM ID:616739 +BMGC_DS15798,BMG_DS060123,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2,UMLS ID:C4225221,,,,,radioulnar synostosis with amegakaryocytic thrombocytopenia 2,MONDO:0014758,,,,,,OMIM ID:616738 +BMGC_DS15799,BMG_DS060124,"Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome",UMLS ID:C4225222,"Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome | Takenouchi Kosaki syndrome | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)",SNOMEDCT ID:1172685001,,,macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,MONDO:0014757,,,,,,OMIM ID:616737 +BMGC_DS15800,BMG_DS060125,"TREMOR, HEREDITARY ESSENTIAL, 5",UMLS ID:C4225223,,,,,"tremor, hereditary essential, 5",MONDO:0014756,,,essential tremor 5,DOID:0111432,,OMIM ID:610084 | OMIM ID:616736 +BMGC_DS15801,BMG_DS060126,,UMLS ID:C4225225,,,,,"skin creases, congenital symmetric circumferential, 2",MONDO:0014755,,,,,,OMIM ID:616734 +BMGC_DS15802,BMG_DS060127,"COENZYME Q10 DEFICIENCY, PRIMARY, 8",UMLS ID:C4225226,,,,,primary coenzyme Q10 deficiency 8,MONDO:0014754,,,primary coenzyme Q10 deficiency 8,DOID:0070245,,OMIM ID:601683 | OMIM ID:616733 +BMGC_DS15803,BMG_DS060128,"OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES",UMLS ID:C4225227,,,,,"optic atrophy 10 with or without ataxia, intellectual disability, and seizures",MONDO:0020737,,,optic atrophy 10,DOID:0111434,,OMIM ID:616732 +BMGC_DS15804,BMG_DS060129,"NEPHROTIC SYNDROME, TYPE 11",UMLS ID:C4225228,,,,,"nephrotic syndrome, type 11",MONDO:0014752,,,nephrotic syndrome type 11,DOID:0080385,,OMIM ID:616730 | OMIM ID:607617 +BMGC_DS15805,BMG_DS060130,"CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES",UMLS ID:C4225229,,,,,palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,MONDO:0014751,,,,,,OMIM ID:609132 | OMIM ID:616728 +BMGC_DS15806,BMG_DS060131,"CILIARY DYSKINESIA, PRIMARY, 33",UMLS ID:C4225230,,,,,primary ciliary dyskinesia 33,MONDO:0014750,,,,,,OMIM ID:616726 | OMIM ID:605178 +BMGC_DS15807,BMG_DS060132,"TOOTH AGENESIS, SELECTIVE, 7",UMLS ID:C4225231,,,,,"tooth agenesis, selective, 7",MONDO:0014749,,,,,,OMIM ID:616724 | OMIM ID:603507 +BMGC_DS15808,BMG_DS060133,SLC39A8 congenital disorder of glycosylation,UMLS ID:C4225234,Solute carrier family 39 member 8 congenital disorder of glycosylation | SLC39A8-CDG - solute carrier family 39 member 8 congenital disorder of glycosylation | Congenital disorder of glycosylation type 2n | SLC39A8 congenital disorder of glycosylation | Congenital disorder of glycosylation type IIn | Carbohydrate deficient glycoprotein syndrome type IIn | Solute carrier family 39 member 8 congenital disorder of glycosylation (disorder),SNOMEDCT ID:1187171005,,,SLC39A8-CDG,MONDO:0014746,,,,,,OMIM ID:616721 +BMGC_DS15809,BMG_DS060134,"MYASTHENIC SYNDROME, CONGENITAL, 19",UMLS ID:C4225235,,,,,congenital myasthenic syndrome 19,MONDO:0014745,,,congenital myasthenic syndrome 19,DOID:0110673,,OMIM ID:616720 | OMIM ID:120350 +BMGC_DS15810,BMG_DS060135,,UMLS ID:C4225237,,,,,rhizomelic chondrodysplasia punctata type 5,MONDO:0014743,,,,,,OMIM ID:616716 +BMGC_DS15811,BMG_DS060136,"PARKINSON DISEASE 22, AUTOSOMAL DOMINANT",UMLS ID:C4225238,,,,,"Parkinson disease 22, autosomal dominant",MONDO:0014742,,,Parkinson's disease 22,DOID:0080504,,OMIM ID:616710 | OMIM ID:616244 +BMGC_DS15812,BMG_DS060137,DESANTO-SHINAWI SYNDROME,UMLS ID:C4225239,,,,,DeSanto-Shinawi syndrome,MONDO:0018760,,,DeSanto-Shinawi syndrome,DOID:0081126,,OMIM ID:616708 | OMIM ID:615049 +BMGC_DS15813,BMG_DS060138,"DEAFNESS, AUTOSOMAL DOMINANT 68",UMLS ID:C4225240,,,,,autosomal dominant nonsyndromic hearing loss 68,MONDO:0014740,,,,,,OMIM ID:604799 | OMIM ID:616707 +BMGC_DS15814,BMG_DS060139,"DEAFNESS, AUTOSOMAL DOMINANT 69",UMLS ID:C4225241,,,,,autosomal dominant nonsyndromic hearing loss 69,MONDO:0014738,,,,,,OMIM ID:616697 | OMIM ID:184745 +BMGC_DS15815,BMG_DS060140,DEHYDRATED HEREDITARY STOMATOCYTOSIS 2,UMLS ID:C4225242,,,,,dehydrated hereditary stomatocytosis 2,MONDO:0014737,,,dehydrated hereditary stomatocytosis 2,DOID:0111577,,OMIM ID:616689 | OMIM ID:602754 +BMGC_DS15816,BMG_DS060141,,UMLS ID:C4225245,,,,,"epilepsy, idiopathic generalized, susceptibility to, 14",MONDO:0014734,,,,,,OMIM ID:616685 +BMGC_DS15817,BMG_DS060142,SURF1-related Charcot-Marie-Tooth disease type 4,UMLS ID:C4225246,"SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) | Charcot-Marie-Tooth disease type 4K | SURF1-related Charcot-Marie-Tooth disease type 4 | SURF1-related severe demyelinating Charcot-Marie-Tooth disease | SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4",SNOMEDCT ID:765047006,,,Charcot-Marie-Tooth disease type 4K,MONDO:0014733,,,,,,OMIM ID:616684 +BMGC_DS15818,BMG_DS060143,"LEUKODYSTROPHY, HYPOMYELINATING, 12",UMLS ID:C4225247,,,,,hypomyelinating leukodystrophy 12,MONDO:0014732,,,hypomyelinating leukodystrophy 12,DOID:0060796,,OMIM ID:616683 | OMIM ID:608549 +BMGC_DS15819,BMG_DS060144,"Seizures, scoliosis, macrocephaly syndrome",UMLS ID:C4225248,"SSM (seizures, scoliosis, macrocephaly) syndrome | Seizures, scoliosis, macrocephaly syndrome (disorder) | Seizures, scoliosis, macrocephaly syndrome",SNOMEDCT ID:1187250005,,,seizures-scoliosis-macrocephaly syndrome,MONDO:0014731,,,,,,OMIM ID:616682 +BMGC_DS15820,BMG_DS060145,"MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4225249,,,,,"microcephaly 16, primary, autosomal recessive",MONDO:0014730,,,primary autosomal recessive microcephaly 16,DOID:0070289,,OMIM ID:616681 | OMIM ID:616062 +BMGC_DS15821,BMG_DS060146,"SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",UMLS ID:C4225250,,,,,hereditary spastic paraplegia 75,MONDO:0014729,,,,,,OMIM ID:159460 | OMIM ID:616680 +BMGC_DS15822,BMG_DS060147,IMMUNODEFICIENCY 45,UMLS ID:C4225252,,,,,immunodeficiency 45,MONDO:0014727,,,immunodeficiency 45,DOID:0111994,,OMIM ID:616669 | OMIM ID:602376 +BMGC_DS15823,BMG_DS060148,"Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome",UMLS ID:C4225254,"Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome | ASCT1 deficiency | Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder) | Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome",SNOMEDCT ID:1237418002,,,spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,MONDO:0014725,,,"spastic tetraplegia, thin corpus callosum, and progressive microcephaly",DOID:0070537,,OMIM ID:616657 +BMGC_DS15824,BMG_DS060149,PMP22-RAI1 contiguous gene duplication syndrome,UMLS ID:C4225255,Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) | PMP22-RAI1 contiguous gene duplication syndrome | 17p11.2p12 microduplication syndrome | Yuan Harel Lupski syndrome | Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome | Trisomy 17p11.2p12,SNOMEDCT ID:1172899000,,,PMP22-RAI1 contiguous gene duplication syndrome,MONDO:0014723,,,,,,OMIM ID:616652 +BMGC_DS15825,BMG_DS060150,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,UMLS ID:C4225256,Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | Martsolf-like syndrome | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder),SNOMEDCT ID:1208747005,,,"developmental and epileptic encephalopathy, 35",MONDO:0014719,,,,,,OMIM ID:616647 +BMGC_DS15826,BMG_DS060151,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34,UMLS ID:C4225257,,,,,"developmental and epileptic encephalopathy, 34",MONDO:0014718,,,developmental and epileptic encephalopathy 34,DOID:0080460,,OMIM ID:616645 | OMIM ID:606726 +BMGC_DS15827,BMG_DS060152,"EPILEPSY, PROGRESSIVE MYOCLONIC, 10",UMLS ID:C4225258,,,,,early-onset Lafora body disease,MONDO:0014717,,,progressive myoclonus epilepsy 10,DOID:0111445,,OMIM ID:616640 | OMIM ID:616639 +BMGC_DS15828,BMG_DS060153,"Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome",UMLS ID:C4225259,"MINDS syndrome | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) | Smith Kingsmore syndrome | MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome",SNOMEDCT ID:1187304005,,,macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,MONDO:0014716,,,,,,OMIM ID:616638 +BMGC_DS15829,BMG_DS060154,IMMUNODEFICIENCY 44,UMLS ID:C4225260,,,,,primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,MONDO:0014715,,,immunodeficiency 44,DOID:0111975,,OMIM ID:616636 | OMIM ID:600556 +BMGC_DS15830,BMG_DS060155,"POROKERATOSIS 9, MULTIPLE TYPES",UMLS ID:C4225262,,,,,"porokeratosis 9, multiple types",MONDO:0014713,,,,,,OMIM ID:616631 | OMIM ID:134629 +BMGC_DS15831,BMG_DS060156,SENIOR-LOKEN SYNDROME 9,UMLS ID:C4225263,,,,,Senior-Loken syndrome 9,MONDO:0014712,,,,,,OMIM ID:607380 | OMIM ID:616629 +BMGC_DS15832,BMG_DS060157,HEIMLER SYNDROME 2,UMLS ID:C4225267,,,,,,,,,Heimler syndrome 2,DOID:0080624,,OMIM ID:616617 | OMIM ID:601498 +BMGC_DS15833,BMG_DS060158,"CUTIS LAXA, AUTOSOMAL DOMINANT 3",UMLS ID:C4225268,,,,,"cutis laxa, autosomal dominant 3",MONDO:0014706,,,,,,OMIM ID:616603 | OMIM ID:138250 +BMGC_DS15834,BMG_DS060159,CRANIOSYNOSTOSIS 6,UMLS ID:C4225269,,,,,craniosynostosis 6,MONDO:0014705,,,craniosynostosis 6,DOID:0061008,,OMIM ID:616602 | OMIM ID:600470 +BMGC_DS15835,BMG_DS060160,Kosaki overgrowth syndrome,UMLS ID:C4225270,"Kosaki overgrowth syndrome (disorder) | Skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome | Kosaki overgrowth syndrome",SNOMEDCT ID:1172898008,,,skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome,MONDO:0014704,,,,,,OMIM ID:616592 +BMGC_DS15836,BMG_DS060161,ADAMS-OLIVER SYNDROME 6,UMLS ID:C4225271,,,,,Adams-Oliver syndrome 6,MONDO:0014703,,,,,,OMIM ID:616589 | OMIM ID:605185 +BMGC_DS15837,BMG_DS060162,Spondyloepiphyseal dysplasia Stanescu type,UMLS ID:C4225273,Spondyloepiphyseal dysplasia Stanescu type | Spondyloepiphyseal dysplasia Stanescu type (disorder) | SED (spondyloepiphyseal dysplasia) Stanescu type,SNOMEDCT ID:1228860003,,,"spondyloepiphyseal dysplasia, Stanescu type",MONDO:0014701,,,,,,OMIM ID:616583 +BMGC_DS15838,BMG_DS060163,,UMLS ID:C4225274,,,,,Au-Kline syndrome,MONDO:0014700,,,,,,OMIM ID:616580 | OMIM ID:604916 +BMGC_DS15839,BMG_DS060164,"Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome",UMLS ID:C4225276,"Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) | Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome | Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome",SNOMEDCT ID:1254651003,,,microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,MONDO:0014698,,,,,,OMIM ID:616577 +BMGC_DS15840,BMG_DS060165,"IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY",UMLS ID:C4225277,,,,,"immunodeficiency, common variable, 12",MONDO:0014697,,,common variable immunodeficiency 12,DOID:0081154,,OMIM ID:616576 | OMIM ID:164011 +BMGC_DS15841,BMG_DS060166,"SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE",UMLS ID:C4225279,,,,,"spondylocostal dysostosis 6, autosomal recessive",MONDO:0014694,,,spondylocostal dysostosis 6,DOID:0112360,,OMIM ID:616566 | OMIM ID:609891 +BMGC_DS15842,BMG_DS060167,NOONAN SYNDROME 10,UMLS ID:C4225280,,,,,Noonan syndrome 10,MONDO:0014693,,,,,,OMIM ID:616564 | OMIM ID:600574 +BMGC_DS15843,BMG_DS060168,RETINITIS PIGMENTOSA 74,UMLS ID:C4225281,,,,,retinitis pigmentosa 74,MONDO:0014692,,,,,,OMIM ID:616562 | OMIM ID:606151 +BMGC_DS15844,BMG_DS060169,NOONAN SYNDROME 9,UMLS ID:C4225282,,,,,Noonan syndrome 9,MONDO:0014691,,,,,,OMIM ID:616559 | OMIM ID:601247 +BMGC_DS15845,BMG_DS060170,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7",UMLS ID:C4225283,,,,,"dyskeratosis congenita, autosomal recessive 7",MONDO:0800370,,,autosomal dominant dyskeratosis congenita 6,DOID:0070023,,OMIM ID:609377 | OMIM ID:616553 +BMGC_DS15846,BMG_DS060171,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6",UMLS ID:C4225284,,,,,"dyskeratosis congenita, autosomal dominant 6",MONDO:0014690,,,autosomal dominant dyskeratosis congenita 6,DOID:0070023,,OMIM ID:616553 | OMIM ID:609377 +BMGC_DS15847,BMG_DS060172,"Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome",UMLS ID:C4225285,"Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome | Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)",SNOMEDCT ID:1217225001,,,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,MONDO:0014689,,,,,,OMIM ID:616549 +BMGC_DS15848,BMG_DS060173,SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY,UMLS ID:C4225286,,,,,short-rib thoracic dysplasia 14 with polydactyly,MONDO:0014688,,,,,,OMIM ID:610178 | OMIM ID:616546 +BMGC_DS15849,BMG_DS060174,RETINITIS PIGMENTOSA 73,UMLS ID:C4225287,,,,,retinitis pigmentosa 73,MONDO:0014687,,,,,,OMIM ID:610453 | OMIM ID:616544 +BMGC_DS15850,BMG_DS060175,"SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION",UMLS ID:C4225288,,,,,"short stature, microcephaly, and endocrine dysfunction",MONDO:0014686,,,,,,OMIM ID:194363 | OMIM ID:616541 +BMGC_DS15851,BMG_DS060176,Progressive myoclonic epilepsy type 9,UMLS ID:C4225289,Progressive myoclonic epilepsy type 9 | Progressive myoclonic epilepsy type 9 (disorder) | Progressive myoclonic epilepsy due to LMNB2 deficiency | Progressive myoclonic epilepsy due to LMNB2 (lamin B2) deficiency | Progressive myoclonus epilepsy type 9 | PME (progressive myoclonic epilepsy) type 9,SNOMEDCT ID:1228857005,,,progressive myoclonic epilepsy type 9,MONDO:0014685,,,,,,OMIM ID:616540 +BMGC_DS15852,BMG_DS060177,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9",UMLS ID:C4225291,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9",MONDO:0014683,,,congenital muscular dystrophy-dystroglycanopathy type A9,DOID:0111232,,OMIM ID:128239 | OMIM ID:616538 +BMGC_DS15853,BMG_DS060178,,UMLS ID:C4225292,,,,,"thyroid cancer, nonmedullary, 5",MONDO:0014682,,,,,,OMIM ID:616535 +BMGC_DS15854,BMG_DS060179,,UMLS ID:C4225293,,,,,"thyroid cancer, nonmedullary, 4",MONDO:0014681,,,,,,OMIM ID:616534 +BMGC_DS15855,BMG_DS060180,,UMLS ID:C4225294,,,,,"herpes simplex encephalitis, susceptibility to, 7",MONDO:0014680,,,,,,OMIM ID:616532 +BMGC_DS15856,BMG_DS060181,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES",UMLS ID:C4225295,,,,,"polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis",MONDO:0014679,,,,,,OMIM ID:616531 | OMIM ID:600286 +BMGC_DS15857,BMG_DS060182,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39",UMLS ID:C4225296,,,,,"intellectual disability, autosomal dominant 39",MONDO:0014678,,,autosomal dominant intellectual developmental disorder 39,DOID:0070069,,OMIM ID:613084 | OMIM ID:616521 +BMGC_DS15858,BMG_DS060183,ACHROMATOPSIA 7,UMLS ID:C4225297,,,,,achromatopsia 7,MONDO:0014677,,,achromatopsia 7,DOID:0110009,,OMIM ID:605537 | OMIM ID:616517 +BMGC_DS15859,BMG_DS060184,"DEAFNESS, AUTOSOMAL RECESSIVE 104",UMLS ID:C4225298,,,,,autosomal recessive nonsyndromic hearing loss 104,MONDO:0014675,,,,,,OMIM ID:616515 | OMIM ID:611410 +BMGC_DS15860,BMG_DS060185,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14",UMLS ID:C4225299,,,,,maturity-onset diabetes of the young type 14,MONDO:0014674,,,maturity-onset diabetes of the young type 14,DOID:0111111,,OMIM ID:604299 | OMIM ID:616511 +BMGC_DS15861,BMG_DS060186,CATARACT 44,UMLS ID:C4225300,,,,,cataract 44,MONDO:0014673,,,,,,OMIM ID:600909 | OMIM ID:616509 +BMGC_DS15862,BMG_DS060187,"OSTEOGENESIS IMPERFECTA, TYPE XVII",UMLS ID:C4225301,,,,,osteogenesis imperfecta type 17,MONDO:0014672,,,,,,OMIM ID:616507 | OMIM ID:182120 +BMGC_DS15863,BMG_DS060188,"NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY",UMLS ID:C4225302,,,,,"neuropathy, hereditary motor and sensory, type 6B",MONDO:0014671,,,,,,OMIM ID:616505 +BMGC_DS15864,BMG_DS060189,LETHAL CONGENITAL CONTRACTURE SYNDROME 9,UMLS ID:C4225303,,,,,lethal congenital contracture syndrome 9,MONDO:0014670,,,,,,OMIM ID:616503 | OMIM ID:612243 +BMGC_DS15865,BMG_DS060190,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13",UMLS ID:C4225304,,,,,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4",MONDO:0014668,,,mitochondrial complex IV deficiency nuclear type 13,DOID:0080360,,OMIM ID:616501 | OMIM ID:614772 +BMGC_DS15866,BMG_DS060191,"LEUKODYSTROPHY, HYPOMYELINATING, 11",UMLS ID:C4225305,,,,,hypomyelinating leukodystrophy 11,MONDO:0014666,,,,,,OMIM ID:616494 | OMIM ID:610060 +BMGC_DS15867,BMG_DS060192,SILVER-RUSSELL SYNDROME 3,UMLS ID:C4225307,,,,,Silver-Russell syndrome 3,MONDO:0014663,,,,,,OMIM ID:616489 | OMIM ID:147470 +BMGC_DS15868,BMG_DS060193,Hereditary sensory and autonomic neuropathy type 8,UMLS ID:C4225308,Hereditary sensory and autonomic neuropathy type 8 (disorder) | HSAN8 - hereditary sensory and autonomic neuropathy type 8 | Hereditary sensory and autonomic neuropathy type 8 | Hereditary sensory and autonomic neuropathy type VIII,SNOMEDCT ID:1172838005,,,congenital insensitivity to pain-hypohidrosis syndrome,MONDO:0014662,,,,,,OMIM ID:616488 +BMGC_DS15869,BMG_DS060194,"EPIDERMOLYSIS BULLOSA SIMPLEX 5D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE",UMLS ID:C4225309,,,,,epidermolysis bullosa simplex with nail dystrophy,MONDO:0014661,,,,,,OMIM ID:616487 | OMIM ID:601282 +BMGC_DS15870,BMG_DS060195,"NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES",UMLS ID:C4225310,,,,,"microcephaly 15, primary, autosomal recessive",MONDO:0014660,,,primary autosomal recessive microcephaly 15,DOID:0070277,,OMIM ID:616486 | OMIM ID:614397 +BMGC_DS15871,BMG_DS060196,"CILIARY DYSKINESIA, PRIMARY, 32",UMLS ID:C4225311,,,,,primary ciliary dyskinesia 32,MONDO:0014657,,,,,,OMIM ID:616481 | OMIM ID:615876 +BMGC_DS15872,BMG_DS060197,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2",UMLS ID:C4225312,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",MONDO:0014656,,,autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2,DOID:0111515,,OMIM ID:616479 | OMIM ID:604123 +BMGC_DS15873,BMG_DS060198,BETHLEM MYOPATHY 2,UMLS ID:C4225313,,,,,Bethlem myopathy 2,MONDO:0034022,,,,,,OMIM ID:120320 | OMIM ID:616471 +BMGC_DS15874,BMG_DS060199,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2,UMLS ID:C4225314,,,,,Ullrich congenital muscular dystrophy 2,MONDO:0014654,,,Ullrich congenital muscular dystrophy 2,DOID:0060948,,OMIM ID:120320 | OMIM ID:616470 +BMGC_DS15875,BMG_DS060200,RETINITIS PIGMENTOSA 72,UMLS ID:C4225315,,,,,retinitis pigmentosa 72,MONDO:0014653,,,,,,OMIM ID:616454 | OMIM ID:616469 +BMGC_DS15876,BMG_DS060201,EXUDATIVE VITREORETINOPATHY 6,UMLS ID:C4225316,,,,,exudative vitreoretinopathy 6,MONDO:0014652,,,exudative vitreoretinopathy 6,DOID:0111410,,OMIM ID:616468 | OMIM ID:616454 +BMGC_DS15877,BMG_DS060202,"ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE",UMLS ID:C4225317,,,,,acrofacial dysostosis Cincinnati type,MONDO:0014651,,,acrofacial dysostosis Cincinnati type,DOID:0060353,,OMIM ID:616462 | OMIM ID:616404 +BMGC_DS15878,BMG_DS060203,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 8",UMLS ID:C4225318,,,,,familial temporal lobe epilepsy 8,MONDO:0014650,,,familial temporal lobe epilepsy 8,DOID:0060754,,OMIM ID:616461 | OMIM ID:137035 +BMGC_DS15879,BMG_DS060204,,UMLS ID:C4225319,,,,,"intellectual disability, autosomal recessive 50",MONDO:0014649,,,,,,OMIM ID:616460 +BMGC_DS15880,BMG_DS060205,"CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation",UMLS ID:C4225320,"Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) | CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type Iz | Congenital disorder of glycosylation type 1z",SNOMEDCT ID:1237417007,,,"developmental and epileptic encephalopathy, 50",MONDO:0014647,,,,,,OMIM ID:616457 +BMGC_DS15881,BMG_DS060206,ZIMMERMANN-LABAND SYNDROME 2,UMLS ID:C4225321,,,,,Zimmermann-Laband syndrome 2,MONDO:0014646,,,,,,OMIM ID:616455 | OMIM ID:606939 +BMGC_DS15882,BMG_DS060207,Basel Vanagaite Smirin Yosef syndrome,UMLS ID:C4225323,Basel Vanagaite Smirin Yosef syndrome (disorder) | Basel Vanagaite Smirin Yosef syndrome,SNOMEDCT ID:1187644009,,,congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome,MONDO:0014643,,,,,,OMIM ID:616449 +BMGC_DS15883,BMG_DS060208,"CANDIDIASIS, FAMILIAL, 9",UMLS ID:C4225324,,,,,"candidiasis, familial, 9",MONDO:0014642,,,,,,OMIM ID:610925 | OMIM ID:616445 +BMGC_DS15884,BMG_DS060209,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4,UMLS ID:C4225325,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 4,MONDO:0014641,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 4,DOID:0110069,,OMIM ID:616439 | OMIM ID:604834 +BMGC_DS15885,BMG_DS060210,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3,UMLS ID:C4225326,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 3,MONDO:0014640,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 3,DOID:0110068,,OMIM ID:616437 | OMIM ID:601530 +BMGC_DS15886,BMG_DS060211,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 7",UMLS ID:C4225327,,,,,familial temporal lobe epilepsy 7,MONDO:0014639,,,familial temporal lobe epilepsy 7,DOID:0060751,,OMIM ID:616436 | OMIM ID:600514 +BMGC_DS15887,BMG_DS060212,IMMUNODEFICIENCY 40,UMLS ID:C4225328,,,,,DOCK2 deficiency,MONDO:0014637,,,immunodeficiency 40,DOID:0111951,,OMIM ID:603122 | OMIM ID:616433 +BMGC_DS15888,BMG_DS060213,,UMLS ID:C4225330,,,,,"microphthalmia, isolated, with coloboma 10",MONDO:0014635,,,,,,OMIM ID:616428 +BMGC_DS15889,BMG_DS060214,"46,XY SEX REVERSAL 10",UMLS ID:C4225331,,,,,"46,XY sex reversal 10",MONDO:0014634,,,"46,XY sex reversal 10",DOID:0111775,,OMIM ID:608160 | OMIM ID:616425 +BMGC_DS15890,BMG_DS060215,"PYCR2-related microcephaly, progressive leukoencephalopathy",UMLS ID:C4225332,"Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy | PYCR2-related microcephaly, progressive leucoencephalopathy | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) | Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy | PYCR2-related microcephaly, progressive leukoencephalopathy",SNOMEDCT ID:1237421000,,,hypomyelinating leukodystrophy 10,MONDO:0014632,,,,,,OMIM ID:616420 +BMGC_DS15891,BMG_DS060216,"HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1",UMLS ID:C4225333,,,,,"hypomagnesemia, seizures, and intellectual disability 1",MONDO:0020787,,,,,,OMIM ID:607803 | OMIM ID:616418 +BMGC_DS15892,BMG_DS060217,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6",UMLS ID:C4225335,,,,,"basal ganglia calcification, idiopathic, 6",MONDO:0014628,,,,,,OMIM ID:605237 | OMIM ID:616413 +BMGC_DS15893,BMG_DS060218,DYSTONIA 27,UMLS ID:C4225336,,,,,dystonia 27,MONDO:0014627,,,,,,OMIM ID:120250 | OMIM ID:616411 +BMGC_DS15894,BMG_DS060219,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33,UMLS ID:C4225337,,,,,"developmental and epileptic encephalopathy, 33",MONDO:0014625,,,developmental and epileptic encephalopathy 33,DOID:0080463,,OMIM ID:602959 | OMIM ID:616409 +BMGC_DS15895,BMG_DS060220,"MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4225338,,,,,"microcephaly 14, primary, autosomal recessive",MONDO:0014623,,,primary autosomal recessive microcephaly 14,DOID:0070279,,OMIM ID:609321 | OMIM ID:616402 +BMGC_DS15896,BMG_DS060221,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2",UMLS ID:C4225339,,,,,isolated focal non-epidermolytic palmoplantar keratoderma,MONDO:0014622,,,focal nonepidermolytic palmoplantar keratoderma 2,DOID:0111711,,OMIM ID:616400 | OMIM ID:607066 +BMGC_DS15897,BMG_DS060222,BRUGADA SYNDROME 9,UMLS ID:C4225340,,,,,Brugada syndrome 9,MONDO:0014621,,,,,,OMIM ID:616399 | OMIM ID:605411 +BMGC_DS15898,BMG_DS060223,"DYSTONIA 26, MYOCLONIC",UMLS ID:C4225341,,,,,myoclonic dystonia 26,MONDO:0014620,,,myoclonic dystonia 26,DOID:0090036,,OMIM ID:616398 | OMIM ID:616386 +BMGC_DS15899,BMG_DS060224,RETINITIS PIGMENTOSA 71,UMLS ID:C4225342,,,,,retinitis pigmentosa 71,MONDO:0014618,,,,,,OMIM ID:616394 | OMIM ID:607386 +BMGC_DS15900,BMG_DS060225,,UMLS ID:C4225343,,,,,"intellectual disability, autosomal dominant 38",MONDO:0014617,,,,,,OMIM ID:616393 +BMGC_DS15901,BMG_DS060226,"TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE",UMLS ID:C4225344,,,,,"trichothiodystrophy 2, photosensitive",MONDO:0014615,,,photosensitive trichothiodystrophy 2,DOID:0111869,,OMIM ID:616390 | OMIM ID:133510 +BMGC_DS15902,BMG_DS060227,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G",UMLS ID:C4225345,,,,,congenital stationary night blindness 1G,MONDO:0014614,,,congenital stationary night blindness 1G,DOID:0110714,,OMIM ID:616389 | OMIM ID:139330 +BMGC_DS15903,BMG_DS060228,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3",UMLS ID:C4225346,,,,,"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3",MONDO:0014613,,,,,,OMIM ID:616373 | OMIM ID:608833 +BMGC_DS15904,BMG_DS060229,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4",UMLS ID:C4225347,,,,,"pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4",MONDO:0014612,,,,,,OMIM ID:616371 | OMIM ID:604212 +BMGC_DS15905,BMG_DS060230,Multiple mitochondrial dysfunctions syndrome type 4,UMLS ID:C4225348,Multiple mitochondrial dysfunctions syndrome type 4 | MMDS4 - multiple mitochondrial dysfunctions syndrome type 4 | Multiple mitochondrial dysfunctions syndrome type 4 (disorder),SNOMEDCT ID:1208621008,,,multiple mitochondrial dysfunctions syndrome 4,MONDO:0014611,,,,,,OMIM ID:616370 +BMGC_DS15906,BMG_DS060231,Mandibulofacial dysostosis with alopecia,UMLS ID:C4225349,Mandibulofacial dysostosis with alopecia | MFDA - mandibulofacial dysostosis with alopecia | Mandibulofacial dysostosis with alopecia (disorder),SNOMEDCT ID:1216943004,,,mandibulofacial dysostosis with alopecia,MONDO:0014608,,,,,,OMIM ID:616367 +BMGC_DS15907,BMG_DS060232,,UMLS ID:C4225350,,,,,"developmental and epileptic encephalopathy, 32",MONDO:0014607,,,,,,OMIM ID:616366 +BMGC_DS15908,BMG_DS060233,White Sutton syndrome,UMLS ID:C4225351,White Sutton syndrome (disorder) | White Sutton syndrome,SNOMEDCT ID:772127009,,,intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome,MONDO:0014606,,,,,,OMIM ID:616364 +BMGC_DS15909,BMG_DS060234,"Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome",UMLS ID:C4225352,"Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome",SNOMEDCT ID:1254650002,,,Houge-Janssens syndrome 2,MONDO:0014605,,,,,,OMIM ID:616362 +BMGC_DS15910,BMG_DS060235,PARKINSON DISEASE 21,UMLS ID:C4225353,,,,,Parkinson disease 21,MONDO:0014604,,,Parkinson's disease 21,DOID:0111251,,OMIM ID:616361 +BMGC_DS15911,BMG_DS060236,"Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome",UMLS ID:C4225354,"Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)",SNOMEDCT ID:1254652005,,,,,,,,,, +BMGC_DS15912,BMG_DS060237,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6",UMLS ID:C4225356,,,,,"dyskeratosis congenita, autosomal recessive 6",MONDO:0014600,,,autosomal recessive dyskeratosis congenita 6,DOID:0070024,,OMIM ID:616353 | OMIM ID:604212 +BMGC_DS15913,BMG_DS060238,,UMLS ID:C4225357,,,,,"developmental and epileptic encephalopathy, 31A",MONDO:0014598,,,,,,OMIM ID:616346 +BMGC_DS15914,BMG_DS060239,IMMUNODEFICIENCY 39,UMLS ID:C4225358,,,,,immunodeficiency 39,MONDO:0014597,,,immunodeficiency 39,DOID:0111969,,OMIM ID:605047 | OMIM ID:616345 +BMGC_DS15915,BMG_DS060240,LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA,UMLS ID:C4225359,,,,,lissencephaly 7 with cerebellar hypoplasia,MONDO:0014596,,,lissencephaly 7 with cerebellar hypoplasia,DOID:0112231,,OMIM ID:123831 | OMIM ID:616342 +BMGC_DS15916,BMG_DS060241,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30,UMLS ID:C4225360,,,,,"developmental and epileptic encephalopathy, 30",MONDO:0014595,,,developmental and epileptic encephalopathy 30,DOID:0080465,,OMIM ID:605705 | OMIM ID:616341 +BMGC_DS15917,BMG_DS060242,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29,UMLS ID:C4225361,,,,,"developmental and epileptic encephalopathy, 29",MONDO:0014593,,,developmental and epileptic encephalopathy 29,DOID:0080451,,OMIM ID:601065 | OMIM ID:616339 +BMGC_DS15918,BMG_DS060243,"MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3",UMLS ID:C4225362,,,,,microcephaly and chorioretinopathy 3,MONDO:0014592,,,microcephaly and chorioretinopathy 3,DOID:0080107,,OMIM ID:609610 | OMIM ID:616335 +BMGC_DS15919,BMG_DS060244,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",UMLS ID:C4225363,,,,,autosomal dominant Robinow syndrome 2,MONDO:0014591,,,autosomal dominant Robinow syndrome 2,DOID:0060765,,OMIM ID:601365 | OMIM ID:616331 +BMGC_DS15920,BMG_DS060245,"MYASTHENIC SYNDROME, CONGENITAL, 18",UMLS ID:C4225364,,,,,congenital myasthenic syndrome 18,MONDO:0014590,,,congenital myasthenic syndrome 18,DOID:0110683,,OMIM ID:616330 +BMGC_DS15921,BMG_DS060246,"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13",UMLS ID:C4225365,,,,,maturity-onset diabetes of the young type 13,MONDO:0014589,,,maturity-onset diabetes of the young type 13,DOID:0111110,,OMIM ID:600937 | OMIM ID:616329 +BMGC_DS15922,BMG_DS060247,"MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",UMLS ID:C4225367,,,,,congenital myasthenic syndrome 11,MONDO:0014588,,,congenital myasthenic syndrome 11,DOID:0110675,,OMIM ID:616326 | OMIM ID:601592 +BMGC_DS15923,BMG_DS060248,"MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",UMLS ID:C4225368,,,,,congenital myasthenic syndrome 9,MONDO:0014587,,,congenital myasthenic syndrome 9,DOID:0110670,,OMIM ID:616325 | OMIM ID:601296 +BMGC_DS15924,BMG_DS060249,"MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL",UMLS ID:C4225369,,,,,congenital myasthenic syndrome 4B,MONDO:0014586,,,congenital myasthenic syndrome 4B,DOID:0110677,,OMIM ID:616324 | OMIM ID:100725 +BMGC_DS15925,BMG_DS060250,"MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",UMLS ID:C4225370,,,,,congenital myasthenic syndrome 3C,MONDO:0014585,,,congenital myasthenic syndrome 3C,DOID:0110664,,OMIM ID:616323 | OMIM ID:100720 +BMGC_DS15926,BMG_DS060251,"MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL",UMLS ID:C4225371,,,,,congenital myasthenic syndrome 3B,MONDO:0014584,,,congenital myasthenic syndrome 3B,DOID:0110665,,OMIM ID:616322 | OMIM ID:100720 +BMGC_DS15927,BMG_DS060252,"MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL",UMLS ID:C4225372,,,,,congenital myasthenic syndrome 3A,MONDO:0014583,,,congenital myasthenic syndrome 3A,DOID:0110666,,OMIM ID:616321 | OMIM ID:100720 +BMGC_DS15928,BMG_DS060253,"MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",UMLS ID:C4225373,,,,,congenital myasthenic syndrome 2C,MONDO:0014582,,,congenital myasthenic syndrome 2C,DOID:0110680,,OMIM ID:616314 | OMIM ID:100710 +BMGC_DS15929,BMG_DS060254,"MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL",UMLS ID:C4225374,,,,,congenital myasthenic syndrome 2A,MONDO:0014581,,,congenital myasthenic syndrome 2A,DOID:0110681,,OMIM ID:616313 | OMIM ID:100710 +BMGC_DS15930,BMG_DS060255,,UMLS ID:C4225375,,,,,"intellectual disability, autosomal dominant 33",MONDO:0014580,,,,,,OMIM ID:616311 +BMGC_DS15931,BMG_DS060256,SENIOR-LOKEN SYNDROME 8,UMLS ID:C4225376,,,,,Senior-Loken syndrome 8,MONDO:0014579,,,,,,OMIM ID:616307 | OMIM ID:608151 +BMGC_DS15932,BMG_DS060257,"MYASTHENIC SYNDROME, CONGENITAL, 17",UMLS ID:C4225377,,,,,congenital myasthenic syndrome 17,MONDO:0014578,,,congenital myasthenic syndrome 17,DOID:0110674,,OMIM ID:616304 | OMIM ID:604270 +BMGC_DS15933,BMG_DS060258,SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C4225378,,,,,short-rib thoracic dysplasia 13 with or without polydactyly,MONDO:0014577,,,,,,OMIM ID:613446 | OMIM ID:616300 +BMGC_DS15934,BMG_DS060259,LIPOYLTRANSFERASE 1 DEFICIENCY,UMLS ID:C4225379,,,,,lipoyl transferase 1 deficiency,MONDO:0014576,,,,,,OMIM ID:616299 | OMIM ID:610284 +BMGC_DS15935,BMG_DS060260,SINGLETON-MERTEN SYNDROME 2,UMLS ID:C4225380,,,,,Singleton-Merten syndrome 2,MONDO:0014575,,,,,,OMIM ID:616298 | OMIM ID:609631 +BMGC_DS15936,BMG_DS060261,PLACK syndrome,UMLS ID:C4225381,"Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) | PLACK syndrome | PLACK (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome | Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome | Peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome",SNOMEDCT ID:1237509001,,,peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome,MONDO:0014574,,,PLACK syndrome,DOID:0070526,,OMIM ID:616295 +BMGC_DS15937,BMG_DS060262,COLE-CARPENTER SYNDROME 2,UMLS ID:C4225382,,,,,Cole-Carpenter syndrome 2,MONDO:0014573,,,,,,OMIM ID:616294 | OMIM ID:607186 +BMGC_DS15938,BMG_DS060263,"Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome",UMLS ID:C4225383,"Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Lichtenstein Knorr syndrome | SCAR19 - spinocerebellar ataxia, autosomal recessive 19 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome | Progressive autosomal recessive ataxia, deafness syndrome",SNOMEDCT ID:1237413006,,,Lichtenstein-Knorr syndrome,MONDO:0014572,,,,,,OMIM ID:616291 +BMGC_DS15939,BMG_DS060264,OPTIC ATROPHY 9,UMLS ID:C4225384,,,,,optic atrophy 9,MONDO:0014571,,,optic atrophy 9,DOID:0111442,,OMIM ID:616289 +BMGC_DS15940,BMG_DS060265,LETHAL CONGENITAL CONTRACTURE SYNDROME 8,UMLS ID:C4225385,,,,,lethal congenital contracture syndrome 8,MONDO:0014570,,,,,,OMIM ID:616287 | OMIM ID:600294 +BMGC_DS15941,BMG_DS060266,LETHAL CONGENITAL CONTRACTURE SYNDROME 7,UMLS ID:C4225386,,,,,lethal congenital contracture syndrome 7,MONDO:0014569,,,,,,OMIM ID:602346 | OMIM ID:616286 +BMGC_DS15942,BMG_DS060267,NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY,UMLS ID:C4225388,,,,,glutamate pyruvate transaminase 2 deficiency,MONDO:0014567,,,neurodevelopmental disorder with spastic paraplegia and microcephaly,DOID:0070542,,OMIM ID:138210 | OMIM ID:616281 +BMGC_DS15943,BMG_DS060268,CATARACT 43,UMLS ID:C4225389,,,,,cataract 43,MONDO:0014565,,,,,,OMIM ID:616279 | OMIM ID:611220 +BMGC_DS15944,BMG_DS060269,,UMLS ID:C4225390,,,,,congenital bile acid synthesis defect 5,MONDO:0014564,,,,,,OMIM ID:616278 +BMGC_DS15945,BMG_DS060270,MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY,UMLS ID:C4225391,,,,,mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency,MONDO:0014563,,,mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,DOID:0070540,,OMIM ID:616277 | OMIM ID:602292 +BMGC_DS15946,BMG_DS060271,3-methylglutaconic aciduria type 7,UMLS ID:C4225393,"MGA7 - 3-methylglutaconic aciduria type 7 | 3-methylglutaconic aciduria type VII | 3-methylglutaconic aciduria type 7 (disorder) | 3-methylglutaconic aciduria type 7 | 3-methylglutaconic aciduria, cataract, neurologic involvement, neutropenia syndrome | CLBP (ClpB homolog, mitochondrial AAA ATPase chaperonin) deficiency",SNOMEDCT ID:764860006,,,,,,,,,, +BMGC_DS15947,BMG_DS060272,"AMELOGENESIS IMPERFECTA, TYPE IF",UMLS ID:C4225394,,,,,amelogenesis imperfecta type 1F,MONDO:0014560,,,,,,OMIM ID:616270 | OMIM ID:601259 +BMGC_DS15948,BMG_DS060273,"Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome",UMLS ID:C4225395,"Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) | Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome",SNOMEDCT ID:1260130005,,,progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,MONDO:0014559,,,,,,OMIM ID:616269 +BMGC_DS15949,BMG_DS060274,"Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome",UMLS ID:C4225396,"Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome | Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) | Arboleda Tham syndrome",SNOMEDCT ID:1255319004,,,autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,MONDO:0014558,,,,,,OMIM ID:616268 +BMGC_DS15950,BMG_DS060275,ATAXIA-OCULOMOTOR APRAXIA 4,UMLS ID:C4225397,,,,,ataxia - oculomotor apraxia type 4,MONDO:0014557,,,ataxia-oculomotor apraxia type 4,DOID:0081383,,OMIM ID:616267 | OMIM ID:605610 +BMGC_DS15951,BMG_DS060276,"Congenital contracture of limbs and face, hypotonia, developmental delay syndrome",UMLS ID:C4225398,"Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | CLIFAHDD syndrome | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder) | CLIFAHDD (congenital limbs, face contractures, hypotonia, developmental delay) syndrome",SNOMEDCT ID:1255322002,,,"congenital contractures of the limbs and face, hypotonia, and developmental delay",MONDO:0014556,,,,,,OMIM ID:616266 +BMGC_DS15952,BMG_DS060277,SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES,UMLS ID:C4225399,,,,,short stature with nonspecific skeletal abnormalities,MONDO:0014551,,,,,,OMIM ID:108961 | OMIM ID:616255 +BMGC_DS15953,BMG_DS060278,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,UMLS ID:C4225400,Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) | Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Interstitial lung and liver disease | Hereditary pulmonary alveolar proteinosis with hepatic involvement | Pulmonary alveolar proteinosis Reunion island type,SNOMEDCT ID:1228876007,,,severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,MONDO:0014206,,,,,,OMIM ID:615486 +BMGC_DS15954,BMG_DS060279,PREMATURE OVARIAN FAILURE 10,UMLS ID:C4225402,,,,,premature ovarian failure 10,MONDO:0044776,,,primary ovarian insufficiency 10,DOID:0080867,,OMIM ID:612885 | OMIM ID:608187 +BMGC_DS15955,BMG_DS060280,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION",UMLS ID:C4225403,,,,,,,,,,,,OMIM ID:612158 +BMGC_DS15956,BMG_DS060281,"ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE",UMLS ID:C4225404,,,,,acromesomelic dysplasia 3,MONDO:0012274,,,acromesomelic dysplasia-3,DOID:0081237,,OMIM ID:609441 +BMGC_DS15957,BMG_DS060282,"MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL",UMLS ID:C4225405,,,,,"myasthenic syndrome, congenital, 1B, fast-channel",MONDO:0012156,,,congenital myasthenic syndrome 1B,DOID:0110662,,OMIM ID:608930 | OMIM ID:100690 +BMGC_DS15958,BMG_DS060283,PEELING SKIN SYNDROME 4,UMLS ID:C4225407,,,,,peeling skin syndrome 4,MONDO:0011937,,,,,,OMIM ID:607936 | OMIM ID:184600 +BMGC_DS15959,BMG_DS060284,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25",UMLS ID:C4225408,,,,,hypertrophic cardiomyopathy 25,MONDO:0011843,,,hypertrophic cardiomyopathy 25,DOID:0110328,,OMIM ID:607487 | OMIM ID:604488 +BMGC_DS15960,BMG_DS060285,,UMLS ID:C4225410,,,,,"thyroid cancer, nonmedullary, 3",MONDO:0011653,,,,,,OMIM ID:606240 +BMGC_DS15961,BMG_DS060286,DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS,UMLS ID:C4225411,,,,,Diamond-Blackfan anemia 15 with mandibulofacial dysostosis,MONDO:0011639,,,Diamond-Blackfan anemia 15 with mandibulofacial dysostosis,DOID:0111894,,OMIM ID:606164 | OMIM ID:603685 +BMGC_DS15962,BMG_DS060287,Spondylo-ocular syndrome,UMLS ID:C4225412,Spondyloocular syndrome (disorder) | Spondyloocular syndrome | Spondylo-ocular syndrome,SNOMEDCT ID:715653007,,,spondylo-ocular syndrome,MONDO:0011604,,,,,,OMIM ID:605822 +BMGC_DS15963,BMG_DS060288,"MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL",UMLS ID:C4225413,,,,,congenital myasthenic syndrome 4A,MONDO:0011600,,,congenital myasthenic syndrome 4A,DOID:0110678,,OMIM ID:100725 | OMIM ID:605809 +BMGC_DS15964,BMG_DS060289,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24",UMLS ID:C4225414,,,,,,,,,,,,OMIM ID:601493 | OMIM ID:605906 +BMGC_DS15965,BMG_DS060290,"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3",UMLS ID:C4225415,,,,,"myopathy, lactic acidosis, and sideroblastic anemia 3",MONDO:0010782,,,"myopathy, lactic acidosis, and sideroblastic anemia 3",DOID:0111184,,OMIM ID:500011 +BMGC_DS15966,BMG_DS060291,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED",UMLS ID:C4225416,,,,,"intellectual disability, X-linked 99, syndromic, female-restricted",MONDO:0010502,,,female-restricted syndromic X-linked intellectual disability 99,DOID:0112025,,OMIM ID:300072 | OMIM ID:300968 +BMGC_DS15967,BMG_DS060292,,UMLS ID:C4225417,,,,,syndromic X-linked intellectual disability 34,MONDO:0010501,,,,,,OMIM ID:300967 +BMGC_DS15968,BMG_DS060293,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33",UMLS ID:C4225418,,,,,"intellectual disability, X-linked, syndromic 33",MONDO:0010500,,,,,,OMIM ID:300966 | OMIM ID:313650 +BMGC_DS15969,BMG_DS060294,RITSCHER-SCHINZEL SYNDROME 2,UMLS ID:C4225419,,,,,Ritscher-Schinzel syndrome 2,MONDO:0010499,,,Ritscher-Schinzel syndrome 2,DOID:0060572,,OMIM ID:300859 | OMIM ID:300963 +BMGC_DS15970,BMG_DS060295,"TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE",UMLS ID:C4225420,,,,,"trichothiodystrophy 5, nonphotosensitive",MONDO:0010495,,,,,,OMIM ID:300951 | OMIM ID:300953 +BMGC_DS15971,BMG_DS060296,LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3,UMLS ID:C4225421,,,,,linear skin defects with multiple congenital anomalies 3,MONDO:0010494,,,linear skin defects with multiple congenital anomalies 3,DOID:0111876,,OMIM ID:300403 | OMIM ID:300952 +BMGC_DS15972,BMG_DS060297,DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS,UMLS ID:C4225422,,,,,Diamond-Blackfan anemia 14 with mandibulofacial dysostosis,MONDO:0010493,,,Diamond-Blackfan anemia 14 with mandibulofacial dysostosis,DOID:0111897,,OMIM ID:300946 +BMGC_DS15973,BMG_DS060298,"REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET",UMLS ID:C4225423,,,,,"myopathy, reducing body, X-linked, early-onset, severe",MONDO:0010414,,,reducing body myopathy 1A,DOID:0080090,,OMIM ID:300717 +BMGC_DS15974,BMG_DS060299,"Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome",UMLS ID:C4225424,"Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)",SNOMEDCT ID:1197357008,,,colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,MONDO:0008927,,,,,,OMIM ID:212550 +BMGC_DS15975,BMG_DS060300,"ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY",UMLS ID:C4225425,,,,,sideroblastic anemia 2,MONDO:0008785,,,autosomal recessive pyridoxine-refractory sideroblastic anemia 2,DOID:0060065,,OMIM ID:205950 | OMIM ID:610819 +BMGC_DS15976,BMG_DS060301,,UMLS ID:C4225426,,,,,"thyroid cancer, nonmedullary, 2",MONDO:0008566,,,,,,OMIM ID:188470 +BMGC_DS15977,BMG_DS060302,SINGLETON-MERTEN SYNDROME 1,UMLS ID:C4225427,,,,,Singleton-Merten syndrome 1,MONDO:0024535,,,,,,OMIM ID:182250 | OMIM ID:606951 +BMGC_DS15978,BMG_DS060303,"ANEMIA, SIDEROBLASTIC, 4",UMLS ID:C4225428,,,,,autosomal dominant sideroblastic anemia,MONDO:0008422,,,autosomal dominant sideroblastic anemia 4,DOID:0060335,,OMIM ID:182170 | OMIM ID:600548 +BMGC_DS15979,BMG_DS060304,Ehlers-Danlos syndrome classic type,UMLS ID:C4225429,Ehlers-Danlos syndrome classic type (disorder) | Ehlers-Danlos syndrome classic type | Ehlers-Danlos syndrome classical type | Classical Ehlers-Danlos syndrome,SNOMEDCT ID:715318006,,,"Ehlers-Danlos syndrome, classic type",MONDO:0007522,,,,,, +BMGC_DS15980,BMG_DS060305,CHROMOSOME 10p12-p11 DELETION SYNDROME,UMLS ID:C4225431,,,,,,,,,DeSanto-Shinawi syndrome,DOID:0081126,,OMIM ID:616708 +BMGC_DS15981,BMG_DS060306,CHROMOSOME 2p25.3 DUPLICATION SYNDROME,UMLS ID:C4225432,,,,,,,,,autosomal dominant intellectual developmental disorder 39,DOID:0070069,,OMIM ID:616521 +BMGC_DS15982,BMG_DS060307,CHROMOSOME 2p25.3 DELETION SYNDROME,UMLS ID:C4225433,,,,,,,,,autosomal dominant intellectual developmental disorder 39,DOID:0070069,,OMIM ID:616521 +BMGC_DS15983,BMG_DS060308,"CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL",UMLS ID:C4225434,,,,,,,,,"neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",DOID:0070050,,OMIM ID:613443 +BMGC_DS15984,BMG_DS060309,"RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION",UMLS ID:C4225436,,,,,,,,,,,,OMIM ID:610125 +BMGC_DS15985,BMG_DS060310,"EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY",UMLS ID:C4225440,,,,,,,,,,,,OMIM ID:607459 +BMGC_DS15986,BMG_DS060311,"PLASMINOGEN DEFICIENCY, TYPE II",UMLS ID:C4225445,,,,,dysplasminogenemia,MONDO:0100538,,,,,,OMIM ID:217090 +BMGC_DS15987,BMG_DS060312,14q32 duplication syndrome,UMLS ID:C4225449,14q32 duplication syndrome | 14q32 duplication syndrome (disorder) | Trisomy 14q32 | Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication,SNOMEDCT ID:1234830005,,,14q32 duplication syndrome,MONDO:0014707,,,,,,OMIM ID:616604 +BMGC_DS15988,BMG_DS060313,CHROMOSOME 13q32 DELETION SYNDROME,UMLS ID:C4225452,,,,,,,,,,,,OMIM ID:156600 +BMGC_DS15989,BMG_DS060314,,UMLS ID:C4225479,,,,,"migraine, with or without aura, susceptibility to, 13",MONDO:0013344,,,,,,OMIM ID:613656 +BMGC_DS15990,BMG_DS060315,RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT,UMLS ID:C4225493,,,,,familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,MONDO:0014747,,,,,,OMIM ID:616722 | OMIM ID:610942 +BMGC_DS15991,BMG_DS060317,"MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES",UMLS ID:C4225499,,,,,,,,,,,,OMIM ID:610436 +BMGC_DS15992,BMG_DS060318,SPERMATOGENIC FAILURE 6,UMLS ID:C4225503,,,,,,,,,,,,OMIM ID:102530 | OMIM ID:609856 +BMGC_DS15993,BMG_DS060320,IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS,UMLS ID:C4225516,,,,,,,,,,,,OMIM ID:608771 +BMGC_DS15994,BMG_DS060331,"ANEMIA, SIDEROBLASTIC, 1, LATE-ONSET",UMLS ID:C4225593,,,,,,,,,,,,OMIM ID:301300 +BMGC_DS15995,BMG_DS060339,CHROMOSOME 10q22.3-q23.2 DELETION SYNDROME,UMLS ID:C4225669,,,,,chromosome 10q23 deletion syndrome,MONDO:0012830,,,,,,OMIM ID:612242 +BMGC_DS15996,BMG_DS060341,,UMLS ID:C4225671,,,,,VACTERL/vater association,MONDO:0008642,,,,,,OMIM ID:192350 +BMGC_DS15997,BMG_DS060394,Isolated polycystic liver disease,UMLS ID:C4255088,Isolated polycystic liver disease (disorder) | Isolated polycystic liver disease,SNOMEDCT ID:716196007,,,,,,,,,, +BMGC_DS15998,BMG_DS060396,Bilateral Vestibulopathy,UMLS ID:C4255193,,,,,,,Bilateral Vestibulopathy,MeSH ID:D000071699,,,, +BMGC_DS15999,BMG_DS060614,Colonic inflammatory bowel disease unclassified (IBDU),UMLS ID:C4268603,,,Indeterminate colitis,ICD11 ID:DD72,,,,,,,ICD10 ID:K52.3, +BMGC_DS16000,BMG_DS060659,Celiac disease with steatorrhea,UMLS ID:C4268664,,,Coeliac disease,ICD11 ID:DA95,,,,,,,ICD10 ID:K90.0, +BMGC_DS16001,BMG_DS060756,,UMLS ID:C4272578,,,,,autosomal recessive osteopetrosis,MONDO:0019026,,,,,, +BMGC_DS16002,BMG_DS060760,Branchiootic syndrome,UMLS ID:C4273131,Branchio-otic syndrome | Branchiootic syndrome (disorder) | Branchiootic syndrome,SNOMEDCT ID:764810000,,,branchiootic syndrome,MONDO:0018878,,MeSH ID:C537104,branchiootic syndrome,DOID:0060232,, +BMGC_DS16003,BMG_DS060773,Proximal 16p11.2 microdeletion syndrome,UMLS ID:C4273657,Proximal 16p11.2 microdeletion syndrome (disorder) | Proximal 16p11.2 microdeletion syndrome,SNOMEDCT ID:718227006,,,,,,,"chromosome 16p11.2 deletion syndrome, 593-kb",DOID:0070515,, +BMGC_DS16004,BMG_DS060776,TMEM70 related mitochondrial encephalo-cardio-myopathy,UMLS ID:C4273660,Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) | Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation | TMEM70 related mitochondrial encephalo-cardio-myopathy,SNOMEDCT ID:718212006,,,,,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 2,DOID:0060331,, +BMGC_DS16005,BMG_DS060779,Hypothyroidism due to mutation in transcription factor of pituitary development,UMLS ID:C4273672,Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) | Hypothyroidism due to mutation in transcription factor of pituitary development,SNOMEDCT ID:718194004,,,hypothyroidism due to deficient transcription factors involved in pituitary development or function,MONDO:0016411,,,,,, +BMGC_DS16006,BMG_DS060785,Genetic steroid-resistant nephrotic syndrome,UMLS ID:C4273714,Familial idiopathic steroid-resistant nephrotic syndrome | Genetic steroid-resistant nephrotic syndrome (disorder) | Genetic steroid-resistant nephrotic syndrome | Hereditary steroid-resistant nephrotic syndrome,SNOMEDCT ID:718141008,,,familial idiopathic steroid-resistant nephrotic syndrome,MONDO:0019006,,,,,, +BMGC_DS16007,BMG_DS060786,Fatal infantile cytochrome C oxidase deficiency,UMLS ID:C4273730,Fatal infantile cytochrome C oxidase deficiency (disorder) | Fatal infantile cytochrome C oxidase deficiency,SNOMEDCT ID:718124006,,,fatal infantile encephalocardiomyopathy,MONDO:0015487,,,"COX deficiency, infantile mitochondrial myopathy",DOID:0050713,, +BMGC_DS16008,BMG_DS060787,Combined pituitary hormone deficiency genetic form,UMLS ID:C4273747,Familial congenital hypopituitarism | Combined pituitary hormone deficiency genetic form (disorder) | Combined pituitary hormone deficiency genetic form | Multiple pituitary hormone deficiency genetic form,SNOMEDCT ID:718182008,,,"combined pituitary hormone deficiencies, genetic form",MONDO:0013099,,,,,, +BMGC_DS16009,BMG_DS060788,Familial thyroid dyshormonogenesis,UMLS ID:C4273748,Familial thyroid dyshormonogenesis (disorder) | Familial thyroid dyshormonogenesis,SNOMEDCT ID:718183003,,,familial thyroid dyshormonogenesis,MONDO:0010132,,,,,, +BMGC_DS16010,BMG_DS060794,Fetal iodine syndrome,UMLS ID:C4273860,Fetal iodine syndrome (disorder) | Fetal iodine syndrome | Foetal iodine syndrome,SNOMEDCT ID:718228001,,,fetal iodine syndrome,MONDO:0009224,,,,,,OMIM ID:228355 +BMGC_DS16011,BMG_DS060796,Distal monosomy 1q syndrome,UMLS ID:C4273897,Distal monosomy 1q | Distal deletion 1q | Monosomy 1qter | Telomeric deletion 1q | Distal monosomy 1q syndrome | Distal monosomy 1q syndrome (disorder),SNOMEDCT ID:717633007,,,distal monosomy 1q,MONDO:0018205,,,,,, +BMGC_DS16012,BMG_DS060798,Congenital plasminogen activator inhibitor deficiency type 1,UMLS ID:C4273899,Congenital plasminogen activator inhibitor deficiency type 1 (disorder) | Congenital plasminogen activator inhibitor deficiency type 1,SNOMEDCT ID:717407006,,,,,,,,,, +BMGC_DS16013,BMG_DS060803,Obesity due to melanocortin 4 receptor deficiency,UMLS ID:C4273958,Obesity due to melanocortin 4 receptor deficiency (disorder) | Obesity due to melanocortin 4 receptor deficiency,SNOMEDCT ID:717269008,,,obesity due to melanocortin 4 receptor deficiency,MONDO:0019115,,,,,, +BMGC_DS16014,BMG_DS060812,Familial pseudohyperkalemia,UMLS ID:C4273970,Familial pseudohyperkalemia (disorder) | Familial pseudohyperkalemia | Familial pseudohyperkalaemia,SNOMEDCT ID:717254007,,,,,,,,,, +BMGC_DS16015,BMG_DS060816,Hereditary palmoplantar keratoderma Gamborg Nielsen type,UMLS ID:C4273986,Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) | Hereditary palmoplantar keratoderma Gamborg Nielsen type,SNOMEDCT ID:717228004,,,"hereditary palmoplantar keratoderma, Gamborg-Nielsen type",MONDO:0009489,,,mal de Meleda,DOID:0060862,,OMIM ID:244850 +BMGC_DS16016,BMG_DS060817,Benign adult familial myoclonic epilepsy,UMLS ID:C4273988,Benign adult familial myoclonic epilepsy (disorder) | Benign adult familial myoclonic epilepsy | BAFME - Benign adult familial myoclonic epilepsy | Autosomal dominant cortical myoclonus and epilepsy | Benign adult familial myoclonus epilepsy,SNOMEDCT ID:717225001,,,benign adult familial myoclonic epilepsy,MONDO:0019448,,,familial adult myoclonic epilepsy,DOID:0111689,, +BMGC_DS16017,BMG_DS060820,Boichis syndrome,UMLS ID:C4274018,Boichis disease | Nephronophthisis hepatic fibrosis syndrome (disorder) | Nephronophthisis hepatic fibrosis syndrome | Boichis syndrome,SNOMEDCT ID:717187000,,,Senior-Boichis syndrome,MONDO:0019394,,,,,, +BMGC_DS16018,BMG_DS060821,Hyperinsulinism due to deficiency of glucokinase,UMLS ID:C4274019,Hyperinsulinism due to deficiency of glucokinase (disorder) | Hyperinsulinism due to deficiency of glucokinase | Hyperinsulinism due to glucokinase deficiency,SNOMEDCT ID:717182006,,,,,,,,,, +BMGC_DS16019,BMG_DS060824,Renal tubulopathy with encephalopathy and liver failure syndrome,UMLS ID:C4274075,Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) | Renal tubulopathy with encephalopathy and liver failure syndrome,SNOMEDCT ID:717053007,,,renal tubulopathy-encephalopathy-liver failure syndrome,MONDO:0016811,,,,,, +BMGC_DS16020,BMG_DS060825,Autosomal recessive sideroblastic anemia,UMLS ID:C4274077,Autosomal recessive sideroblastic anemia (disorder) | Autosomal recessive sideroblastic anemia | Autosomal recessive sideroblastic anaemia,SNOMEDCT ID:717050005,,,autosomal recessive sideroblastic anemia,MONDO:0016828,,,,,, +BMGC_DS16021,BMG_DS060826,Hyperinsulinism due to HNF4A deficiency,UMLS ID:C4274078,Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) | Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency | Hyperinsulinism due to HNF4A deficiency,SNOMEDCT ID:717048002,,,hyperinsulinism due to HNF4A deficiency,MONDO:0016988,,,,,, +BMGC_DS16022,BMG_DS060828,Autosomal dominant hyperinsulinism due to SUR1 deficiency,UMLS ID:C4274080,Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency | Autosomal dominant hyperinsulinism due to SUR1 deficiency,SNOMEDCT ID:717046003,,,autosomal dominant hyperinsulinism due to SUR1 deficiency,MONDO:0017184,,,,,, +BMGC_DS16023,BMG_DS060829,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,UMLS ID:C4274081,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) | Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,SNOMEDCT ID:717045004,,,autosomal dominant hyperinsulinism due to Kir6.2 deficiency,MONDO:0017185,,,,,, +BMGC_DS16024,BMG_DS060832,Pelizaeus Merzbacher like disease,UMLS ID:C4274084,Pelizaeus Merzbacher like disease (disorder) | Pelizaeus Merzbacher like disease | PMLD - Pelizaeus Merzbacher like disease,SNOMEDCT ID:717042001,,,Pelizaeus-Merzbacher-like disease,MONDO:0017226,,,,,, +BMGC_DS16025,BMG_DS060833,Syndromic recessive X-linked ichthyosis,UMLS ID:C4274085,Syndromic recessive X-linked ichthyosis (disorder) | Syndromic recessive X-linked ichthyosis | Syndromic X-linked ichthyosis,SNOMEDCT ID:717041008,,,syndromic recessive X-linked ichthyosis,MONDO:0017264,,,,,, +BMGC_DS16026,BMG_DS060834,Joubert syndrome with renal defect,UMLS ID:C4274117,Joubert syndrome with renal defect (disorder) | Joubert syndrome with renal defect,SNOMEDCT ID:716999001,,,,,,,,,, +BMGC_DS16027,BMG_DS060835,Joubert syndrome with ocular defect,UMLS ID:C4274118,Joubert syndrome with ocular defect (disorder) | Joubert syndrome with ocular defect | Joubert syndrome with retinopathy,SNOMEDCT ID:716998009,,,Joubert syndrome with ocular defect,MONDO:0016364,,,,,, +BMGC_DS16028,BMG_DS060843,Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency,UMLS ID:C4274221,Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) | Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency | Severe combined immunodeficiency due to DNA-PKcs deficiency,SNOMEDCT ID:716871006,,,,,,,,,, +BMGC_DS16029,BMG_DS060847,,UMLS ID:C4274282,,,,,nanophthalmia,MONDO:0005514,,,,,, +BMGC_DS16030,BMG_DS060853,Congenital alpha-2-antiplasmin deficiency,UMLS ID:C4274304,Congenital alpha-2-antiplasmin deficiency (disorder) | Congenital alpha-2-antiplasmin deficiency | Congenital alpha2-antiplasmin deficiency,SNOMEDCT ID:716746003,,,,,,,,,, +BMGC_DS16031,BMG_DS060855,Familial non-autoimmune autosomal dominant hyperthyroidism,UMLS ID:C4274306,Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) | Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor | Familial non-immune hyperthyroidism | Familial non-autoimmune autosomal dominant hyperthyroidism,SNOMEDCT ID:716743006,,,,,,,,,, +BMGC_DS16032,BMG_DS060858,,UMLS ID:C4274324,,,,,hereditary recurrent myoglobinuria,MONDO:0020504,,,,,, +BMGC_DS16033,BMG_DS060861,FRAXF syndrome,UMLS ID:C4274329,FRAXF syndrome (disorder) | FRAXF syndrome,SNOMEDCT ID:716708005,,,FRAXF syndrome,MONDO:0015084,,,,,, +BMGC_DS16034,BMG_DS060863,Hereditary pheochromocytoma and paraganglioma,UMLS ID:C4274332,Hereditary pheochromocytoma and paraganglioma (disorder) | Hereditary pheochromocytoma and paraganglioma | Hereditary phaeochromocytoma and paraganglioma,SNOMEDCT ID:716857003,,,,,,,,,, +BMGC_DS16035,BMG_DS060865,Congenital deficiency of alpha-fetoprotein,UMLS ID:C4274336,Congenital deficiency of alpha-fetoprotein (disorder) | Congenital deficiency of alpha-fetoprotein,SNOMEDCT ID:716698007,,,,,,,,,, +BMGC_DS16036,BMG_DS060872,Autosomal dominant late onset Parkinson disease,UMLS ID:C4274355,Autosomal dominant late onset Parkinson disease (disorder) | Autosomal dominant late onset Parkinson disease | Hereditary late onset Parkinson disease,SNOMEDCT ID:716662004,,,,,,,,,, +BMGC_DS16037,BMG_DS060910,Autosomal dominant spondylocostal dysostosis,UMLS ID:C4274761,Autosomal dominant spondylocostal dysostosis (disorder) | Autosomal dominant spondylocostal dysostosis | Autosomal dominant spondylocostal dysplasia,SNOMEDCT ID:716232002,,,autosomal dominant spondylocostal dysostosis,MONDO:0015826,,,,,, +BMGC_DS16038,BMG_DS060918,Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency,UMLS ID:C4274793,Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency | Mendelian susceptibility to mycobacterial disease due to complete IL12RB1 deficiency,SNOMEDCT ID:716869006,,,,,,,,,, +BMGC_DS16039,BMG_DS060920,Morse Rawnsley Sargent syndrome,UMLS ID:C4274798,Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) | Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome | Morse Rawnsley Sargent syndrome,SNOMEDCT ID:716169009,,,,,,,,,, +BMGC_DS16040,BMG_DS060928,Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type,UMLS ID:C4274840,Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) | Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type | Non-epidermolytic palmoplantar keratoderma,SNOMEDCT ID:716105001,,,,,,,,,, +BMGC_DS16041,BMG_DS060935,Gingival fibromatosis and hypertrichosis syndrome,UMLS ID:C4274889,Gingival fibromatosis and hypertrichosis syndrome (disorder) | Gingival fibromatosis and hypertrichosis syndrome | Hirsutism congenital gingival hyperplasia syndrome,SNOMEDCT ID:716008002,,,,,,,,,, +BMGC_DS16042,BMG_DS060943,Familial isolated arrhythmogenic right ventricular dysplasia,UMLS ID:C4274968,Familial isolated arrhythmogenic right ventricular dysplasia (disorder) | Familial isolated arrhythmogenic right ventricular dysplasia | Familial isolated ARVD (arrhythmogenic right ventricular dysplasia) | Familial isolated arrhythmogenic right ventricular cardiomyopathy,SNOMEDCT ID:715865008,,,familial isolated arrhythmogenic right ventricular dysplasia,MONDO:0016342,,,,,, +BMGC_DS16043,BMG_DS060955,Lissencephaly with cerebellar hypoplasia,UMLS ID:C4274995,Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) | Lissencephaly co-occurrent with congenital cerebellar hypoplasia | Lissencephaly with cerebellar hypoplasia,SNOMEDCT ID:715817007,,,lissencephaly with cerebellar hypoplasia,MONDO:0019450,,,,,, +BMGC_DS16044,BMG_DS060957,Acetazolamide responsive myotonia,UMLS ID:C4275008,Acetazolamide responsive myotonia (disorder) | Acetazolamide responsive myotonia,SNOMEDCT ID:715793003,,,acetazolamide-responsive myotonia,MONDO:0020483,,,,,, +BMGC_DS16045,BMG_DS060958,Lissencephaly type 1 due to doublecortin gene mutation,UMLS ID:C4275012,Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Lissencephaly type 1 due to doublecortin gene mutation | X-linked lissencephaly type 1,SNOMEDCT ID:715780008,,,,,,,,,, +BMGC_DS16046,BMG_DS060962,,UMLS ID:C4275029,,,,,maternal uniparental disomy of chromosome 20,MONDO:0019917,,,Mulchandani-Bhoj-Conlin syndrome,DOID:0111714,,OMIM ID:617352 +BMGC_DS16047,BMG_DS060963,Intestinal epithelial dysplasia,UMLS ID:C4275062,Congenital tufting enteropathy | Tufting enteropathy | Congenital epithelial dysplasia of intestine (disorder) | Congenital epithelial dysplasia of intestine | Intestinal epithelial dysplasia,SNOMEDCT ID:715669000,,,,,,,,,, +BMGC_DS16048,BMG_DS060964,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis,UMLS ID:C4275063,Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) | Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis,SNOMEDCT ID:715670004,,,,,,,,,, +BMGC_DS16049,BMG_DS060967,Familial avascular necrosis of femoral head,UMLS ID:C4275066,Familial avascular necrosis of head of femur (disorder) | Familial avascular necrosis of head of femur | Familial avascular necrosis of femoral head,SNOMEDCT ID:715657008,,,familial avascular necrosis of femoral head,MONDO:0012126,,,,,, +BMGC_DS16050,BMG_DS060968,Transthyretin related familial amyloid cardiomyopathy,UMLS ID:C4275067,Transthyretin related familial amyloid cardiomyopathy (disorder) | Transthyretin related familial amyloid cardiomyopathy | Transthyretin amyloid cardiopathy | ATTRV122I amyloidosis,SNOMEDCT ID:715655000,,,ATTRV122I amyloidosis,MONDO:0019441,,,,,, +BMGC_DS16051,BMG_DS060970,Desmin related myopathy with Mallory body-like inclusions,UMLS ID:C4275073,Desmin related myopathy with Mallory body-like inclusions (disorder) | Desmin related myopathy with Mallory body-like inclusions | Early onset desmin related myopathy,SNOMEDCT ID:715646003,,,desmin-related myopathy with Mallory body-like inclusions,MONDO:0019398,,,,,, +BMGC_DS16052,BMG_DS060971,Atypical Werner syndrome,UMLS ID:C4275075,Atypical Werner syndrome (disorder) | Atypical Werner syndrome | Atypical progeroid syndrome,SNOMEDCT ID:715633008,,,atypical Werner syndrome,MONDO:0019321,,,,,, +BMGC_DS16053,BMG_DS060984,Infection of skin of eyelid and periocular region,UMLS ID:C4275160,Infection of skin of eyelid and periocular region (disorder) | Infection of skin of eyelid and periocular region,SNOMEDCT ID:715266002,,,,,,,,,, +BMGC_DS16054,BMG_DS060986,Familial abdominal aortic aneurysm,UMLS ID:C4275172,Familial abdominal aortic aneurysm (disorder) | Familial abdominal aortic aneurysm,SNOMEDCT ID:715364001,,,familial abdominal aortic aneurysm,MONDO:0007031,,,,,, +BMGC_DS16055,BMG_DS060987,Young onset Parkinson disease,UMLS ID:C4275179,Young onset Parkinson disease (disorder) | Young onset Parkinson disease | Young onset Parkinson's disease | Early onset Parkinson disease | Early onset Parkinson's disease,SNOMEDCT ID:715345007,,,young-onset Parkinson disease,MONDO:0017279,,,,,, +BMGC_DS16056,BMG_DS060989,Fatal infantile lactic acidosis with methylmalonic aciduria,UMLS ID:C4275183,Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) | Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria | Fatal infantile lactic acidosis with methylmalonic aciduria,SNOMEDCT ID:715338007,,,,,,,,,, +BMGC_DS16057,BMG_DS060990,X-linked retinal dysplasia,UMLS ID:C4275241,X-linked retinal dysplasia (disorder) | X-linked retinal dysplasia,SNOMEDCT ID:715240000,,,X-linked retinal dysplasia,MONDO:0010722,,,,,,OMIM ID:312550 +BMGC_DS16058,BMG_DS060994,Familial spontaneous pneumothorax,UMLS ID:C4275252,Familial spontaneous pneumothorax (disorder) | Familial spontaneous pneumothorax,SNOMEDCT ID:715219001,,,,,,,,,, +BMGC_DS16059,BMG_DS061002,Chemical and Drug Induced Liver Injury,UMLS ID:C4277682,,,,,,,Chemical and Drug Induced Liver Injury,MeSH ID:D056486,,,, +BMGC_DS16060,BMG_DS061003,,UMLS ID:C4277690,,,,,ciliopathy,MONDO:0005308,,,,,, +BMGC_DS16061,BMG_DS061005,Chemically-Induced Liver Toxicity,UMLS ID:C4279912,,,,,,,Chemical and Drug Induced Liver Injury,MeSH ID:D056486,,,, +BMGC_DS16062,BMG_DS061162,,UMLS ID:C4281559,,,,,frontometaphyseal dysplasia 1,MONDO:0024550,,,,,,OMIM ID:305620 +BMGC_DS16063,BMG_DS061164,Childhood Absence Epilepsy,UMLS ID:C4281785,,,,,childhood absence epilepsy,MONDO:0010826,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy,DOID:0070309,, +BMGC_DS16064,BMG_DS061167,,UMLS ID:C4282128,,,,,PDA1,MONDO:0024560,,,,,,OMIM ID:607411 +BMGC_DS16065,BMG_DS061168,,UMLS ID:C4282179,,,,,Alzheimer disease 9,MONDO:0012153,,,,,,OMIM ID:608907 +BMGC_DS16066,BMG_DS061169,Sialidase deficiency,UMLS ID:C4282398,"Sialidosis | Neuroaminidase deficiency | Sialidase deficiency | Mucolipidosis I | Mucolipidosis, type I | Sialidosis (disorder) | Mucolipidosis type I | Neuraminidase deficiency",SNOMEDCT ID:38795005,,,sialidosis type 2,MONDO:0009738,,MeSH ID:C537366,,,,OMIM ID:256150 | OMIM ID:256550 +BMGC_DS16067,BMG_DS061170,,UMLS ID:C4282400,,,,,"polydactyly, postaxial, type A1",MONDO:0008266,,,,,,OMIM ID:174200 +BMGC_DS16068,BMG_DS061171,Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency,UMLS ID:C4283745,Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | Methacrylic aciduria | Valine metabolic defect | HIBCH-gene related deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,SNOMEDCT ID:722488009,,,,,,,,,, +BMGC_DS16069,BMG_DS061174,"DEAFNESS, AUTOSOMAL DOMINANT 66",UMLS ID:C4283893,,,,,autosomal dominant nonsyndromic hearing loss 66,MONDO:0014854,,,,,,OMIM ID:603356 | OMIM ID:616969 +BMGC_DS16070,BMG_DS061175,TONNE-KALSCHEUER SYNDROME,UMLS ID:C4283894,,,,,"intellectual disability, X-linked 61",MONDO:0010506,,,Tonne-Kalscheuer syndrome,DOID:0112042,,OMIM ID:300978 | OMIM ID:300379 +BMGC_DS16071,BMG_DS061177,MIRAGE SYNDROME,UMLS ID:C4284088,,,,,MIRAGE syndrome,MONDO:0014888,,,,,,OMIM ID:610456 | OMIM ID:617053 +BMGC_DS16072,BMG_DS061178,"FANCONI ANEMIA, COMPLEMENTATION GROUP R",UMLS ID:C4284093,,,,,Fanconi anemia complementation group R,MONDO:0014986,,,Fanconi anemia complementation group R,DOID:0111090,,OMIM ID:179617 | OMIM ID:617244 +BMGC_DS16073,BMG_DS061180,"AORTIC ANEURYSM, FAMILIAL THORACIC 10",UMLS ID:C4284414,,,,,"aortic aneurysm, familial thoracic 10",MONDO:0014950,,,,,,OMIM ID:153455 | OMIM ID:617168 +BMGC_DS16074,BMG_DS061181,"SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE",UMLS ID:C4284588,,,,,hereditary spastic paraplegia 62,MONDO:0014302,,,,,,OMIM ID:611604 | OMIM ID:615681 +BMGC_DS16075,BMG_DS061182,"SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY",UMLS ID:C4284592,,,,,"spastic paraplegia, intellectual disability, nystagmus, and obesity",MONDO:0015007,,,,,,OMIM ID:615759 | OMIM ID:617296 +BMGC_DS16076,BMG_DS061183,BAND HETEROTOPIA,UMLS ID:C4284594,,,,,band heterotopia of brain,MONDO:0010873,,,,,,OMIM ID:602033 | OMIM ID:600348 +BMGC_DS16077,BMG_DS061184,PATENT DUCTUS ARTERIOSUS 2,UMLS ID:C4284595,,,,,patent ductus arteriosus 2,MONDO:0014878,,,,,,OMIM ID:617035 | OMIM ID:601601 +BMGC_DS16078,BMG_DS061185,,UMLS ID:C4284790,,,,,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",MONDO:0009364,,,,,,OMIM ID:236670 +BMGC_DS16079,BMG_DS061186,METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA,UMLS ID:C4285231,,,,,methemoglobinemia type 4,MONDO:0009605,,,methemoglobinemia and ambiguous genitalia,DOID:0112316,,OMIM ID:250790 | OMIM ID:613218 +BMGC_DS16080,BMG_DS061188,Post-Cardiac Arrest Syndrome,UMLS ID:C4285706,,,,,post-cardiac arrest syndrome,MONDO:0850092,Post-Cardiac Arrest Syndrome,MeSH ID:D000080942,post-cardiac arrest syndrome,DOID:0070306,, +BMGC_DS16081,BMG_DS061194,,UMLS ID:C4288007,,,,,,,,,vulvar keratoacanthoma,DOID:7408,, +BMGC_DS16082,BMG_DS061202,,UMLS ID:C4288544,,,,,ovarian endometrioid stromal and related neoplasms,MONDO:0003312,,,ovarian endometrioid stromal sarcoma,DOID:5169,, +BMGC_DS16083,BMG_DS061205,,UMLS ID:C4289581,,,,,RELA fusion-positive ependymoma,MONDO:0033980,,,,,, +BMGC_DS16084,BMG_DS061206,,UMLS ID:C4289585,,,,,endometrioid stromal and related neoplasms of the vagina,MONDO:0003314,,,vaginal endometrial stromal tumor,DOID:5171,, +BMGC_DS16085,BMG_DS061207,,UMLS ID:C4289586,,,,,endometrioid stromal and related neoplasms of the cervix,MONDO:0003031,,,cervix endometrial stromal tumor,DOID:4521,, +BMGC_DS16086,BMG_DS061211,,UMLS ID:C4289808,,,,,cervical villoglandular adenocarcinoma,MONDO:0006141,,,villoglandular variant cervical mucinous adenocarcinoma,DOID:8338,, +BMGC_DS16087,BMG_DS061216,,UMLS ID:C4289994,,,,,deficiency of adenosine deaminase 2,MONDO:0100317,,,,,, +BMGC_DS16088,BMG_DS061217,acute flaccid myelitis,UMLS ID:C4290000,,,,,acute flaccid myelitis,MONDO:0100115,,MeSH ID:C000629404,acute flaccid myelitis,DOID:0080947,, +BMGC_DS16089,BMG_DS061223,diseases of the central nervous system caused by prions,UMLS ID:C4290047,,,,,,,,,,,ICD10 ID:A81, +BMGC_DS16090,BMG_DS061237,megaloblastic anemia unresponsive to vitamin B12 or folate therapy,UMLS ID:C4290087,,,,,,,,,,,ICD10 ID:D53, +BMGC_DS16091,BMG_DS061239,diabetes (mellitus) due to autoimmune process,UMLS ID:C4290090,,,,,,,,,type 1 diabetes mellitus 12 | type 1 diabetes mellitus 19 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 2 | type 1 diabetes mellitus 5 | type 1 diabetes mellitus 10 | type 1 diabetes mellitus 13 | type 1 diabetes mellitus 6 | type 1 diabetes mellitus 17 | type 1 diabetes mellitus 24 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 8 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 7,DOID:0110755;DOID:0110753;DOID:0110747;DOID:0110761;DOID:0110751;DOID:0110754;DOID:0110742;DOID:0110749;DOID:0110752;DOID:0110759;DOID:0110758;DOID:0110756;DOID:0110760;DOID:0110746;DOID:0110757;DOID:0110745;DOID:0110741;DOID:0110743;DOID:0110750;DOID:0110744,ICD10 ID:E10, +BMGC_DS16092,BMG_DS061240,diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction,UMLS ID:C4290091,,,,,,,,,type 1 diabetes mellitus 12 | type 1 diabetes mellitus 19 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 2 | type 1 diabetes mellitus 5 | type 1 diabetes mellitus 10 | type 1 diabetes mellitus 13 | type 1 diabetes mellitus 6 | type 1 diabetes mellitus 17 | type 1 diabetes mellitus 24 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 8 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 7,DOID:0110755;DOID:0110753;DOID:0110747;DOID:0110761;DOID:0110751;DOID:0110754;DOID:0110742;DOID:0110749;DOID:0110752;DOID:0110759;DOID:0110758;DOID:0110756;DOID:0110760;DOID:0110746;DOID:0110757;DOID:0110745;DOID:0110741;DOID:0110743;DOID:0110750;DOID:0110744,ICD10 ID:E10, +BMGC_DS16093,BMG_DS061241,idiopathic diabetes (mellitus),UMLS ID:C4290092,,,,,,,,,type 1 diabetes mellitus 12 | type 1 diabetes mellitus 19 | type 1 diabetes mellitus 22 | type 1 diabetes mellitus 2 | type 1 diabetes mellitus 5 | type 1 diabetes mellitus 10 | type 1 diabetes mellitus 13 | type 1 diabetes mellitus 6 | type 1 diabetes mellitus 17 | type 1 diabetes mellitus 24 | type 1 diabetes mellitus 23 | type 1 diabetes mellitus 8 | type 1 diabetes mellitus 20 | type 1 diabetes mellitus 11 | type 1 diabetes mellitus 4 | type 1 diabetes mellitus 3 | type 1 diabetes mellitus 21 | type 1 diabetes mellitus 15 | type 1 diabetes mellitus 18 | type 1 diabetes mellitus 7,DOID:0110755;DOID:0110753;DOID:0110747;DOID:0110761;DOID:0110751;DOID:0110754;DOID:0110742;DOID:0110749;DOID:0110752;DOID:0110759;DOID:0110758;DOID:0110756;DOID:0110760;DOID:0110746;DOID:0110757;DOID:0110745;DOID:0110741;DOID:0110743;DOID:0110750;DOID:0110744,ICD10 ID:E10, +BMGC_DS16094,BMG_DS061242,diabetes (mellitus) due to insulin secretory defect,UMLS ID:C4290093,,,,,,,,,,,ICD10 ID:E11, +BMGC_DS16095,BMG_DS061246,the listed conditions whether the disorder is in the pituitary or the hypothalamus,UMLS ID:C4290097,,,,,,,,,,,ICD10 ID:E23, +BMGC_DS16096,BMG_DS061252,Alzheimer's dementia senile and presenile forms,UMLS ID:C4290121,,,,,,,,,Alzheimer's disease 15 | Alzheimer's disease 12 | Alzheimer's disease 2 | Alzheimer's disease 13 | Alzheimer's disease 6 | Alzheimer's disease 14 | Alzheimer's disease 5 | Alzheimer's disease 7 | Alzheimer's disease 10 | Alzheimer's disease 8 | Alzheimer's disease 11,DOID:0110035;DOID:0110037;DOID:0110038;DOID:0110047;DOID:0110039;DOID:0110044;DOID:0110048;DOID:0110043;DOID:0110041;DOID:0110046;DOID:0110045,ICD10 ID:G30, +BMGC_DS16097,BMG_DS061277,endarteritis deformans or obliterans,UMLS ID:C4290148,,,,,,,,,,,ICD10 ID:I70, +BMGC_DS16098,BMG_DS061339,Leser-Trélat disease,UMLS ID:C4290219,,,,,,,,,,,ICD10 ID:L82, +BMGC_DS16099,BMG_DS061349,cervicothoracic disc disorders with cervicalgia,UMLS ID:C4290229,,,,,,,,,,,ICD10 ID:M50, +BMGC_DS16100,BMG_DS061350,cervicothoracic disc disorders,UMLS ID:C4290230,,,,,,,,,,,ICD10 ID:M50, +BMGC_DS16101,BMG_DS061370,,UMLS ID:C4296896,,,,,hyperplastic polyposis syndrome,MONDO:0015524,,,,,, +BMGC_DS16102,BMG_DS061500,Cryptogenic multifocal ulcerous stenosing enteritis,UMLS ID:C4302263,Cryptogenic multifocal ulcerous stenosing enteritis (disorder) | Cryptogenic multifocal ulcerous stenosing enteritis,SNOMEDCT ID:722849002,,,cryptogenic multifocal ulcerous stenosing enteritis,MONDO:0018765,,,,,, +BMGC_DS16103,BMG_DS061566,X-linked congenital dyserythropoietic anemia with thrombocytopenia,UMLS ID:C4302508,X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | X-linked congenital dyserythropoietic anemia with thrombocytopenia | X-linked congenital dyserythropoietic anaemia with thrombocytopenia,SNOMEDCT ID:722475006,,,thrombocytopenia with congenital dyserythropoietic anemia,MONDO:0019031,,,,,, +BMGC_DS16104,BMG_DS061576,"Juvenile cataract, microcornea, renal glucosuria syndrome",UMLS ID:C4302529,"Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) | Juvenile cataract, microcornea, renal glucosuria syndrome",SNOMEDCT ID:722457005,,,,,,,,,, +BMGC_DS16105,BMG_DS061579,Dystrophic epidermolysis bullosa nails only,UMLS ID:C4302547,Dystrophic epidermolysis bullosa nails only (disorder) | Dystrophic epidermolysis bullosa nails only | Nails only DEB (dystrophic epidermolysis bullosa),SNOMEDCT ID:722436002,,,"dystrophic epidermolysis bullosa, nails only",MONDO:0015553,,,,,, +BMGC_DS16106,BMG_DS061580,Dysspondyloenchondromatosis,UMLS ID:C4302548,Dysspondyloenchondromatosis (disorder) | Dysspondyloenchondromatosis,SNOMEDCT ID:722434004,,,dysspondyloenchondromatosis,MONDO:0019412,,,,,, +BMGC_DS16107,BMG_DS061589,Congenital hereditary facial paralysis with variable hearing loss syndrome,UMLS ID:C4302592,Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) | Congenital hereditary facial paralysis with variable hearing loss syndrome | Congenital hereditary facial palsy with variable deafness,SNOMEDCT ID:722389002,,,congenital hereditary facial paralysis-variable hearing loss syndrome,MONDO:0017627,,,,,, +BMGC_DS16108,BMG_DS061599,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,UMLS ID:C4302667,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | Charcot-Marie-Tooth disease with nephropathy syndrome,SNOMEDCT ID:722294004,,,Charcot-Marie-Tooth disease dominant intermediate E,MONDO:0013758,,,,,,OMIM ID:614455 +BMGC_DS16109,BMG_DS061600,"Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome",UMLS ID:C4302668,"Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) | Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome",SNOMEDCT ID:722293005,,,,,,,,,, +BMGC_DS16110,BMG_DS061601,Autosomal dominant beta2-microglobulinic amyloidosis,UMLS ID:C4302669,Autosomal dominant beta2-microglobulinic amyloidosis (disorder) | Autosomal dominant beta2-microglobulinic amyloidosis | Variant ABeta2M amyloidosis,SNOMEDCT ID:722292000,,,variant ABeta2M amyloidosis,MONDO:0017810,,,,,, +BMGC_DS16111,BMG_DS061602,Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome,UMLS ID:C4302671,Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) | Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome,SNOMEDCT ID:722288007,,,,,,,,,, +BMGC_DS16112,BMG_DS061607,"Agnathia, holoprosencephaly, situs inversus syndrome",UMLS ID:C4302678,"Agnathia, holoprosencephaly, situs inversus syndrome (disorder) | Agnathia, holoprosencephaly, situs inversus syndrome",SNOMEDCT ID:722283003,,,,,,,,,, +BMGC_DS16113,BMG_DS061608,"Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome",UMLS ID:C4302679,"Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) | Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome | Graham Cox syndrome",SNOMEDCT ID:722282008,,,,,,,,,, +BMGC_DS16114,BMG_DS061620,Severe X-linked mitochondrial encephalomyopathy,UMLS ID:C4302745,Severe X-linked mitochondrial encephalomyopathy (disorder) | Severe X-linked mitochondrial encephalomyopathy | Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 | Mitochondrial encephalomyopathy due to COXPD6 deficiency,SNOMEDCT ID:722212004,,,,,,,,,, +BMGC_DS16115,BMG_DS061622,"Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome",UMLS ID:C4302748,"Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome",SNOMEDCT ID:722202006,,,,,,,,,, +BMGC_DS16116,BMG_DS061632,"Overgrowth, macrocephaly, facial dysmorphism syndrome",UMLS ID:C4302813,"Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) | Overgrowth, macrocephaly, facial dysmorphism syndrome | Ring finger protein 135 related overgrowth syndrome | RNF135 (ring finger protein 135) related overgrowth syndrome",SNOMEDCT ID:722122000,,,,,,,,,, +BMGC_DS16117,BMG_DS061635,"Osteosclerosis, developmental delay, craniosynostosis syndrome",UMLS ID:C4302818,"Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) | Osteosclerosis, developmental delay, craniosynostosis syndrome",SNOMEDCT ID:722117000,,,osteosclerosis-developmental delay-craniosynostosis syndrome,MONDO:0015800,,,,,, +BMGC_DS16118,BMG_DS061657,Obesity due to prohormone convertase I deficiency,UMLS ID:C4302878,Obesity due to prohormone convertase I deficiency (disorder) | Obesity due to prohormone convertase I deficiency,SNOMEDCT ID:722053001,,,,,,,,,, +BMGC_DS16119,BMG_DS061667,"Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome",UMLS ID:C4302893,"Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome | MPPH syndrome | MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome",SNOMEDCT ID:722036008,,,megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,MONDO:0019375,,,,,, +BMGC_DS16120,BMG_DS061746,Microduplication Xp11.22p11.23 syndrome,UMLS ID:C4303068,Microduplication Xp11.22p11.23 syndrome (disorder) | Microduplication Xp11.22p11.23 syndrome | Trisomy Xp11.22-p11.23,SNOMEDCT ID:721881008,,,,,,,,,, +BMGC_DS16121,BMG_DS061747,Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency,UMLS ID:C4303071,Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency | Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR2 deficiency,SNOMEDCT ID:721876004,,,autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,MONDO:0017900,,,,,, +BMGC_DS16122,BMG_DS061751,"Hyperuricemia, anemia, renal failure syndrome",UMLS ID:C4303080,"Hyperuricemia, anemia, renal failure syndrome (disorder) | Hyperuricemia, anemia, renal failure syndrome | Hyperuricaemia, anaemia, renal failure syndrome | Familial juvenile hyperuricemic nephropathy type 2 | Familial juvenile hyperuricaemic nephropathy type 2 | Renin associated familial juvenile hyperuricemic nephropathy | Renin associated familial juvenile hyperuricaemic nephropathy",SNOMEDCT ID:721840000,,,,,,,,,, +BMGC_DS16123,BMG_DS061753,Hyperinsulinism due to uncoupling protein 2 deficiency,UMLS ID:C4303082,Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) | Hyperinsulinism due to uncoupling protein 2 deficiency | Hyperinsulinism due to UCP2 deficiency | Hyperinsulinism due to UCP2 (uncoupling protein 2) deficiency,SNOMEDCT ID:721834007,,,hyperinsulinism due to UCP2 deficiency,MONDO:0017183,,,,,, +BMGC_DS16124,BMG_DS061816,Otitis media caused by Streptococcus pneumoniae,UMLS ID:C4303152,Otitis media caused by Streptococcus pneumoniae (disorder) | Otitis media caused by Streptococcus pneumoniae | Streptococcus pneumoniae otitis media,SNOMEDCT ID:721742004,,,,,,,,,, +BMGC_DS16125,BMG_DS061928,,UMLS ID:C4303422,,,,,,,,,systemic Epstein-Barr virus positive T-cell lymphoma of childhood,DOID:0070324,, +BMGC_DS16126,BMG_DS061970,Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency,UMLS ID:C4303473,Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,SNOMEDCT ID:721236002,,,,,,,,,, +BMGC_DS16127,BMG_DS061971,Hyperinsulinism due to insulin receptor deficiency,UMLS ID:C4303474,Hyperinsulinism due to insulin receptor deficiency (disorder) | Hyperinsulinism due to insulin receptor deficiency | Hyperinsulinism due to INSR (insulin receptor) deficiency,SNOMEDCT ID:721235003,,,,,,,,,, +BMGC_DS16128,BMG_DS061972,Hyperinsulinism due to HNF1A deficiency,UMLS ID:C4303475,Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) | Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency | Hyperinsulinism due to HNF1A deficiency,SNOMEDCT ID:721234004,,,hyperinsulinism due to HNF1A deficiency,MONDO:0017935,,,,,, +BMGC_DS16129,BMG_DS061975,Homocystinuria without methylmalonic aciduria,UMLS ID:C4303479,Homocystinuria without methylmalonic aciduria (disorder) | Homocystinuria without methylmalonic aciduria | Functional methionine synthase deficiency,SNOMEDCT ID:721225009,,,homocystinuria without methylmalonic aciduria,MONDO:0018964,,,,,, +BMGC_DS16130,BMG_DS061977,Familial Alzheimer-like prion disease,UMLS ID:C4303482,Familial Alzheimer-like prion disease (disorder) | Familial Alzheimer-like prion disease,SNOMEDCT ID:721219005,,,familial Alzheimer-like prion disease,MONDO:0017233,,,,,, +BMGC_DS16131,BMG_DS062019,Brain dopamine-serotonin vesicular transport disease,UMLS ID:C4303546,Brain dopamine-serotonin vesicular transport disease (disorder) | Brain dopamine-serotonin vesicular transport disease,SNOMEDCT ID:717942003,,,brain dopamine-serotonin vesicular transport disease,MONDO:0018130,,,infantile parkinsonism-dystonia 2,DOID:0070490,,OMIM ID:618049 +BMGC_DS16132,BMG_DS062023,Bilateral microtia with deafness and cleft palate syndrome,UMLS ID:C4303551,Bilateral microtia with deafness and cleft palate syndrome (disorder) | Bilateral microtia with deafness and cleft palate syndrome,SNOMEDCT ID:717909004,,,,,,,,,, +BMGC_DS16133,BMG_DS062024,COG4 congenital disorder of glycosylation,UMLS ID:C4303552,Carbohydrate deficient glycoprotein syndrome type 2j | Carbohydrate deficient glycoprotein syndrome type IIj | CDG2J - carbohydrate deficient glycoprotein syndrome type 2J | Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) | Component of oligomeric golgi complex 4 congenital disorder of glycosylation | COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation | COG4 congenital disorder of glycosylation,SNOMEDCT ID:718751000,,,COG4-congenital disorder of glycosylation,MONDO:0013281,,,,,,OMIM ID:613489 +BMGC_DS16134,BMG_DS062029,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,UMLS ID:C4303568,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | Glycogen storage disease type 15 | Glycogen storage disease type XV | Glycogenosis with severe cardiomyopathy due to glycogenin deficiency,SNOMEDCT ID:717821004,,,,,,,,,, +BMGC_DS16135,BMG_DS062037,"Developmental malformation, deafness, dystonia syndrome",UMLS ID:C4303590,"Developmental malformation, deafness, dystonia syndrome (disorder) | Developmental malformation, deafness, dystonia syndrome",SNOMEDCT ID:721092005,,,,,,,,,, +BMGC_DS16136,BMG_DS062039,DEND syndrome,UMLS ID:C4303593,"Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | Developmental delay, epilepsy, neonatal diabetes syndrome | DEND syndrome | DEND (developmental delay, epilepsy, neonatal diabetes) syndrome",SNOMEDCT ID:721088003,,,DEND syndrome,MONDO:0019207,,,,,, +BMGC_DS16137,BMG_DS062042,Short stature due to primary acid labile subunit deficiency,UMLS ID:C4303612,Short stature due to primary acid labile subunit deficiency (disorder) | Short stature due to primary acid labile subunit deficiency,SNOMEDCT ID:721074002,,,,,,,,,, +BMGC_DS16138,BMG_DS062043,"Short stature, pituitary and cerebellar defect and small sella turcica syndrome",UMLS ID:C4303613,"Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) | Short stature, pituitary and cerebellar defect and small sella turcica syndrome",SNOMEDCT ID:721072003,,,,,,,,,, +BMGC_DS16139,BMG_DS062046,Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency,UMLS ID:C4303665,Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency | Mendelian susceptibility to mycobacterial disease due to complete IL12B deficiency,SNOMEDCT ID:721877008,,,,,,,,,, +BMGC_DS16140,BMG_DS062051,Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome,UMLS ID:C4303670,Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) | Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome | ATRUS syndrome,SNOMEDCT ID:721882001,,,,,,,,,, +BMGC_DS16141,BMG_DS062083,"Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome",UMLS ID:C4303737,"Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome | Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome | OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema) syndrome",SNOMEDCT ID:720986005,,,anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,MONDO:0010295,,,,,,OMIM ID:300301 +BMGC_DS16142,BMG_DS062092,Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3,UMLS ID:C4303760,Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) | Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | Combined oxidative phosphorylation deficiency type 3,SNOMEDCT ID:720951008,,,,,,,,,, +BMGC_DS16143,BMG_DS062093,Familial thrombocytosis,UMLS ID:C4303761,Familial thrombocytosis (disorder) | Familial thrombocytosis | Familial thrombocythemia | Hereditary thrombocythaemia | Hereditary thrombocythemia | Familial thrombocythaemia,SNOMEDCT ID:720950009,,,familial thrombocytosis,MONDO:0019111,,,,,, +BMGC_DS16144,BMG_DS062094,Encephalopathy due to prosaposin deficiency,UMLS ID:C4303785,Encephalopathy due to prosaposin deficiency (disorder) | Encephalopathy due to prosaposin deficiency | Combined prosaposin deficiency | Combined saposin deficiency,SNOMEDCT ID:720864008,,,,,,,,,, +BMGC_DS16145,BMG_DS062096,Ehlers-Danlos syndrome kyphoscoliotic and deafness type,UMLS ID:C4303788,"Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) | Ehlers-Danlos syndrome kyphoscoliotic and deafness type | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness | Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency",SNOMEDCT ID:720859009,,,,,,,,,, +BMGC_DS16146,BMG_DS062097,Ehlers-Danlos syndrome cardiac valvular type,UMLS ID:C4303789,Ehlers-Danlos syndrome cardiac valvular type (disorder) | Ehlers-Danlos syndrome cardiac valvular type,SNOMEDCT ID:720858001,,,"Ehlers-Danlos syndrome, cardiac valvular type",MONDO:0009159,,,,,,OMIM ID:225320 +BMGC_DS16147,BMG_DS062099,"Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome",UMLS ID:C4303792,"Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome | Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome | Cernunnos-XLF deficiency | Severe combined immunodeficiency due to Cernunnos protein deficiency | NHEJ1 (non-homologous end joining factor) syndrome",SNOMEDCT ID:720853005,,,,,,,,,, +BMGC_DS16148,BMG_DS062101,Deficiency of cathepsin D,UMLS ID:C4303804,Deficiency of cathepsin D (disorder) | Deficiency of cathepsin D | Cathepsin D deficiency,SNOMEDCT ID:720831008,,,,,,,,,, +BMGC_DS16149,BMG_DS062105,Craniofacial ulnar renal syndrome,UMLS ID:C4303860,Craniofacial ulnar renal syndrome (disorder) | Craniofacial ulnar renal syndrome | 3MC syndrome,SNOMEDCT ID:720756005,,,3MC syndrome,MONDO:0017398,,,,,, +BMGC_DS16150,BMG_DS062128,Autosomal dominant macrothrombocytopenia,UMLS ID:C4304021,Autosomal dominant macrothrombocytopenia (disorder) | Autosomal dominant macrothrombocytopenia,SNOMEDCT ID:720521008,,,autosomal dominant macrothrombocytopenia,MONDO:0015372,,,,,, +BMGC_DS16151,BMG_DS062129,Attenuated Chédiak-Higashi syndrome,UMLS ID:C4304022,Attenuated Chédiak-Higashi syndrome (disorder) | Attenuated Chédiak-Higashi syndrome | Atypical Chédiak-Higashi syndrome,SNOMEDCT ID:720520009,,,attenuated Chédiak-Higashi syndrome,MONDO:0018133,,,,,, +BMGC_DS16152,BMG_DS062132,Deafness and myopia syndrome,UMLS ID:C4304026,Deafness and myopia syndrome (disorder) | Deafness and myopia syndrome | High myopia and sensorineural deafness,SNOMEDCT ID:720506002,,,,,,,,,, +BMGC_DS16153,BMG_DS062142,Adult-onset autosomal recessive sideroblastic anemia,UMLS ID:C4304054,Adult-onset autosomal recessive sideroblastic anemia (disorder) | Adult-onset autosomal recessive sideroblastic anemia | GLRX5 (glutaredoxin 5) related sideroblastic anemia | GLRX5 (glutaredoxin 5) related sideroblastic anaemia | Adult-onset autosomal recessive sideroblastic anaemia,SNOMEDCT ID:720465002,,,,,,,,,, +BMGC_DS16154,BMG_DS062143,Adducted thumbs and arthrogryposis syndrome Christian type,UMLS ID:C4304055,Adducted thumbs and arthrogryposis syndrome Christian type (disorder) | Adducted thumbs and arthrogryposis syndrome Christian type,SNOMEDCT ID:720463009,,,"adducted thumbs-arthrogryposis syndrome, Christian type",MONDO:0008724,,,,,,OMIM ID:201550 +BMGC_DS16155,BMG_DS062144,Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein,UMLS ID:C4304057,Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) | Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein,SNOMEDCT ID:720461006,,,,,,,,,, +BMGC_DS16156,BMG_DS062165,Autosomal dominant limb girdle muscular dystrophy type 1A,UMLS ID:C4304304,Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) | Autosomal dominant limb girdle muscular dystrophy type 1A | Limb girdle muscular dystrophy due to myotilin deficiency | Limb-girdle muscular dystrophy 1A myotilin myopathy,SNOMEDCT ID:719985001,,,,,,,,,, +BMGC_DS16157,BMG_DS062170,Timothy syndrome type 2,UMLS ID:C4304347,Timothy syndrome type 2 (disorder) | Timothy syndrome type 2,SNOMEDCT ID:719907006,,,Timothy syndrome type 2,MONDO:0035679,,,,,, +BMGC_DS16158,BMG_DS062172,Influenza caused by pandemic influenza virus,UMLS ID:C4304383,Influenza caused by pandemic influenza virus (disorder) | Influenza caused by pandemic influenza virus,SNOMEDCT ID:719865001,,,,,,,,,, +BMGC_DS16159,BMG_DS062178,X-linked hereditary sensory and autonomic neuropathy with deafness,UMLS ID:C4304400,X-linked hereditary sensory and autonomic neuropathy with deafness (disorder) | X-linked hereditary sensory and autonomic neuropathy with deafness | X-linked auditory neuropathy with peripheral sensory neuropathy type 1 | X-linked HSAN (hereditary sensory and autonomic neuropathy) with deafness,SNOMEDCT ID:719838008,,,X-linked hereditary sensory and autonomic neuropathy with hearing loss,MONDO:0010378,,,,,,OMIM ID:300614 +BMGC_DS16160,BMG_DS062183,Xeroderma pigmentosum and Cockayne syndrome complex,UMLS ID:C4304411,Xeroderma pigmentosum and Cockayne syndrome complex (disorder) | Xeroderma pigmentosum and Cockayne syndrome complex,SNOMEDCT ID:719819004,,,xeroderma pigmentosum-Cockayne syndrome complex,MONDO:0016354,,,,,, +BMGC_DS16161,BMG_DS062191,Multiple epiphyseal dysplasia Al-Gazali type,UMLS ID:C4304500,Multiple epiphyseal dysplasia Al-Gazali type (disorder) | Multiple epiphyseal dysplasia Al-Gazali type | Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome,SNOMEDCT ID:719688002,,,,,,,,,, +BMGC_DS16162,BMG_DS062195,8p11.2 deletion syndrome,UMLS ID:C4304505,8p11.2 deletion syndrome (disorder) | 8p11.2 deletion syndrome | Monosomy 8p11.2,SNOMEDCT ID:719646006,,,8p11.2 deletion syndrome,MONDO:0016657,,,,,, +BMGC_DS16163,BMG_DS062197,6q terminal deletion syndrome,UMLS ID:C4304514,6q terminal deletion syndrome (disorder) | 6q terminal deletion syndrome,SNOMEDCT ID:719666002,,,6q terminal deletion syndrome,MONDO:0019164,,,,,, +BMGC_DS16164,BMG_DS062198,5q35 microduplication syndrome,UMLS ID:C4304526,5q35 microduplication syndrome (disorder) | 5q35 microduplication syndrome | Trisomy 5q35,SNOMEDCT ID:719665003,,,5q35 microduplication syndrome,MONDO:0016461,,,,,, +BMGC_DS16165,BMG_DS062201,5q14.3 microdeletion syndrome,UMLS ID:C4304529,5q14.3 microdeletion syndrome (disorder) | 5q14.3 microdeletion syndrome | Monosomy 5q14.3,SNOMEDCT ID:719661007,,,5q14.3 microdeletion syndrome,MONDO:0016456,,,,,, +BMGC_DS16166,BMG_DS062203,2q32q33 microdeletion syndrome,UMLS ID:C4304531,2q32q33 microdeletion syndrome (disorder) | 2q32q33 microdeletion syndrome | Monosomy 2q32q33,SNOMEDCT ID:719659003,,,,,,,,,, +BMGC_DS16167,BMG_DS062204,2q23.1 microdeletion syndrome,UMLS ID:C4304532,2q23.1 microdeletion syndrome (disorder) | 2q23.1 microdeletion syndrome | Monosomy 2q23.1 | Pseudo-Angelman syndrome,SNOMEDCT ID:719657001,,,2q23.1 microdeletion syndrome,MONDO:0016459,,,,,, +BMGC_DS16168,BMG_DS062205,2p21 microdeletion syndrome,UMLS ID:C4304537,2p21 microdeletion syndrome (disorder) | 2p21 microdeletion syndrome | Monosomy 2p21,SNOMEDCT ID:719652007,,,2p21 microdeletion syndrome,MONDO:0015583,,,,,, +BMGC_DS16169,BMG_DS062207,20p12.3 microdeletion syndrome,UMLS ID:C4304539,20p12.3 microdeletion syndrome (disorder) | 20p12.3 microdeletion syndrome | Monosomy 20p12.3,SNOMEDCT ID:719650004,,,20p12.3 microdeletion syndrome,MONDO:0016841,,,,,, +BMGC_DS16170,BMG_DS062208,1q44 microdeletion syndrome,UMLS ID:C4304540,1q44 microdeletion syndrome (disorder) | 1q44 microdeletion syndrome | Monosomy 1q44,SNOMEDCT ID:719649004,,,1q44 microdeletion syndrome,MONDO:0016561,,,,,, +BMGC_DS16171,BMG_DS062210,1p21.3 microdeletion syndrome,UMLS ID:C4304578,1p21.3 microdeletion syndrome (disorder) | 1p21.3 microdeletion syndrome | Monosomy 1p21.3,SNOMEDCT ID:719600006,,,1p21.3 microdeletion syndrome,MONDO:0017405,,,,,, +BMGC_DS16172,BMG_DS062212,Absence of fingerprints with congenital milia syndrome,UMLS ID:C4304581,Absence of fingerprints with congenital milia syndrome (disorder) | Absence of fingerprints with congenital milia syndrome | Absence of dermatoglyphics with congenital milia syndrome | Baird syndrome,SNOMEDCT ID:719595002,,,,,,,,,, +BMGC_DS16173,BMG_DS062215,17q23.1q23.2 microdeletion syndrome,UMLS ID:C4304591,17q23.1q23.2 microdeletion syndrome (disorder) | 17q23.1q23.2 microdeletion syndrome,SNOMEDCT ID:719584008,,,,,,,,,, +BMGC_DS16174,BMG_DS062226,17p13.3 microduplication syndrome,UMLS ID:C4304641,17p13.3 microduplication syndrome (disorder) | 17p13.3 microduplication syndrome | Trisomy 17p13.3,SNOMEDCT ID:719582007,,,,,,,,,, +BMGC_DS16175,BMG_DS062240,Benign concentric annular macular dystrophy,UMLS ID:C4304667,Benign concentric annular macular dystrophy (disorder) | Benign concentric annular macular dystrophy,SNOMEDCT ID:719520001,,,,,,,,,, +BMGC_DS16176,BMG_DS062242,Autosomal dominant palmoplantar keratoderma and congenital alopecia,UMLS ID:C4304669,Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Autosomal dominant palmoplantar keratoderma and congenital alopecia | Palmoplantar keratoderma and congenital alopecia Stevanovic type,SNOMEDCT ID:719518004,,,autosomal dominant palmoplantar keratoderma and congenital alopecia,MONDO:0007083,,,,,,OMIM ID:104100 +BMGC_DS16177,BMG_DS062243,Autosomal dominant focal dystonia DYT25 type,UMLS ID:C4304670,Autosomal dominant focal dystonia DYT25 type (disorder) | Autosomal dominant focal dystonia DYT25 type,SNOMEDCT ID:719516000,,,dystonia 25,MONDO:0014033,,,,,,OMIM ID:615073 +BMGC_DS16178,BMG_DS062244,Autosomal dominant Charcot-Marie-Tooth disease type 2M,UMLS ID:C4304672,Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2M,SNOMEDCT ID:719514002,,,autosomal dominant Charcot-Marie-Tooth disease type 2M,MONDO:0016431,,,,,, +BMGC_DS16179,BMG_DS062245,Autosomal dominant Charcot-Marie-Tooth disease type 2L,UMLS ID:C4304673,Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2L,SNOMEDCT ID:719513008,,,,,,,,,, +BMGC_DS16180,BMG_DS062247,Congenital bile acid synthesis defect type 3,UMLS ID:C4304715,Congenital bile acid synthesis defect type 3 (disorder) | Congenital bile acid synthesis defect type 3 | Oxysterol 7-alpha hydroxylase deficiency,SNOMEDCT ID:719454003,,,,,,,,,, +BMGC_DS16181,BMG_DS062250,Late-onset junctional epidermolysis bullosa,UMLS ID:C4304724,Late-onset junctional epidermolysis bullosa (disorder) | Late-onset junctional epidermolysis bullosa,SNOMEDCT ID:719432000,,,late-onset junctional epidermolysis bullosa,MONDO:0019309,,,,,, +BMGC_DS16182,BMG_DS062251,Leber plus disease,UMLS ID:C4304725,Leber plus disease (disorder) | Leber plus disease,SNOMEDCT ID:719430008,,,Leber plus disease,MONDO:0020478,,,,,, +BMGC_DS16183,BMG_DS062255,Leukoencephalopathy with metaphyseal chondrodysplasia syndrome,UMLS ID:C4304743,Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) | Leukoencephalopathy with metaphyseal chondrodysplasia syndrome | Leucoencephalopathy with metaphyseal chondrodysplasia syndrome,SNOMEDCT ID:719405005,,,,,,,,,, +BMGC_DS16184,BMG_DS062266,Primary ciliary dyskinesia and retinitis pigmentosa syndrome,UMLS ID:C4304829,Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) | Primary ciliary dyskinesia and retinitis pigmentosa syndrome,SNOMEDCT ID:719282008,,,,,,,,,, +BMGC_DS16185,BMG_DS062267,Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome,UMLS ID:C4304831,Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) | Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome | Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome,SNOMEDCT ID:719272007,,,progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,MONDO:0016424,,,,,, +BMGC_DS16186,BMG_DS062268,Primary pigmented nodular adrenocortical disease,UMLS ID:C4304832,Primary pigmented nodular adrenocortical disease (disorder) | Primary pigmented nodular adrenocortical disease,SNOMEDCT ID:719274008,,,primary pigmented nodular adrenocortical disease,MONDO:0015999,,,primary pigmented nodular adrenocortical disease,DOID:0060280,, +BMGC_DS16187,BMG_DS062270,Progressive cavitating leukoencephalopathy,UMLS ID:C4304840,Progressive cavitating leukoencephalopathy (disorder) | Progressive cavitating leukoencephalopathy | Progressive cavitating leucoencephalopathy,SNOMEDCT ID:719267003,,,progressive cavitating leukoencephalopathy,MONDO:0015349,,,,,, +BMGC_DS16188,BMG_DS062272,Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome,UMLS ID:C4304887,Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) | Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome,SNOMEDCT ID:719205008,,,,,,,,,, +BMGC_DS16189,BMG_DS062277,X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome,UMLS ID:C4304918,X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome | X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome,SNOMEDCT ID:719157002,,,,,,,,,, +BMGC_DS16190,BMG_DS062282,X-linked intellectual disability with cerebellar hypoplasia syndrome,UMLS ID:C4304937,X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) | X-linked intellectual disability with cerebellar hypoplasia syndrome | OPHN1 syndrome | Oligophrenin-1 syndrome,SNOMEDCT ID:719136005,,,,,,,,,, +BMGC_DS16191,BMG_DS062291,VACTERL syndrome with hydrocephalus,UMLS ID:C4305002,"Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-oesophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus | VACTERL syndrome with hydrocephalus",SNOMEDCT ID:719043002,,,,,,,,,, +BMGC_DS16192,BMG_DS062292,Uveal coloboma with cleft lip and palate and intellectual disability syndrome,UMLS ID:C4305003,Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) | Uveal coloboma with cleft lip and palate and intellectual disability syndrome,SNOMEDCT ID:719042007,,,,,,,,,, +BMGC_DS16193,BMG_DS062295,X-linked intellectual disability Cantagrel type,UMLS ID:C4305023,X-linked intellectual disability Cantagrel type (disorder) | X-linked intellectual disability Cantagrel type,SNOMEDCT ID:719016007,,,,,,,,,, +BMGC_DS16194,BMG_DS062302,X-linked intellectual disability Van Esch type,UMLS ID:C4305072,X-linked intellectual disability Van Esch type (disorder) | X-linked intellectual disability Van Esch type,SNOMEDCT ID:718914002,,,"X-linked intellectual disability, van Esch type",MONDO:0015601,,,,,,OMIM ID:301030 +BMGC_DS16195,BMG_DS062305,X-linked intellectual disability Stocco Dos Santos type,UMLS ID:C4305076,X-linked intellectual disability Stocco Dos Santos type (disorder) | X-linked intellectual disability Stocco Dos Santos type,SNOMEDCT ID:718910006,,,,,,,,,, +BMGC_DS16196,BMG_DS062307,X-linked intellectual disability Siderius type,UMLS ID:C4305078,X-linked intellectual disability Siderius type (disorder) | X-linked intellectual disability Siderius type,SNOMEDCT ID:718908009,,,,,,,,,, +BMGC_DS16197,BMG_DS062309,Syndromic X-linked intellectual disability type 11,UMLS ID:C4305085,Syndromic X-linked intellectual disability type 11 (disorder) | Syndromic X-linked intellectual disability type 11 | X-linked intellectual disability Shashi type,SNOMEDCT ID:718900002,,,,,,,,,, +BMGC_DS16198,BMG_DS062312,Chromosome Xq27.3q28 duplication syndrome,UMLS ID:C4305103,Chromosome Xq27.3q28 duplication syndrome (disorder) | Chromosome Xq27.3q28 duplication syndrome,SNOMEDCT ID:718881004,,,,,,,,,, +BMGC_DS16199,BMG_DS062314,Cataract glaucoma syndrome,UMLS ID:C4305131,Cataract glaucoma syndrome (disorder) | Cataract glaucoma syndrome,SNOMEDCT ID:718851007,,,cataract-glaucoma syndrome,MONDO:0015567,,,,,, +BMGC_DS16200,BMG_DS062316,Fried syndrome,UMLS ID:C4305134,Fried syndrome (disorder) | Fried syndrome,SNOMEDCT ID:718848000,,,fried syndrome,MONDO:0019428,,,,,, +BMGC_DS16201,BMG_DS062320,12q14 microdeletion syndrome,UMLS ID:C4305140,12q14 microdeletion syndrome (disorder) | 12q14 microdeletion syndrome | Osteopoikilosis with short stature and intellectual disability syndrome | Monosomy 12q14,SNOMEDCT ID:719046005,,,12q14 microdeletion syndrome,MONDO:0019784,,,,,, +BMGC_DS16202,BMG_DS062323,"Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome",UMLS ID:C4305147,"Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | Spondyloepiphyseal dysplasia Nishimura type",SNOMEDCT ID:718766002,,,"spondyloepiphyseal dysplasia, nishimura type",MONDO:0032835,,,,,,OMIM ID:618618 +BMGC_DS16203,BMG_DS062325,,UMLS ID:C4305153,,,,,lissencephaly due to TUBA1A mutation,MONDO:0012703,,,,,,OMIM ID:611603 +BMGC_DS16204,BMG_DS062326,Isolated autosomal dominant hypomagnesemia Glaudemans type,UMLS ID:C4305155,Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) | Isolated autosomal dominant hypomagnesemia Glaudemans type | Isolated autosomal dominant hypomagnesaemia Glaudemans type,SNOMEDCT ID:722008003,,,"isolated autosomal dominant hypomagnesemia, Glaudemans type",MONDO:0016048,,,,,, +BMGC_DS16205,BMG_DS062330,15q14 microdeletion syndrome,UMLS ID:C4305230,15q14 microdeletion syndrome (disorder) | 15q14 microdeletion syndrome | Monosomy 15q14,SNOMEDCT ID:719575008,,,15q14 microdeletion syndrome,MONDO:0014822,,,,,,OMIM ID:616898 +BMGC_DS16206,BMG_DS062331,14q12 microdeletion syndrome,UMLS ID:C4305240,14q12 microdeletion syndrome (disorder) | 14q12 microdeletion syndrome | Monosomy 14q12,SNOMEDCT ID:719574007,,,14q12 microdeletion syndrome,MONDO:0016833,,,,,, +BMGC_DS16207,BMG_DS062332,Congenital analbuminemia,UMLS ID:C4305253,Congenital analbuminemia (disorder) | Congenital analbuminemia | Congenital analbuminaemia,SNOMEDCT ID:718721006,,,congenital analbuminemia,MONDO:0014449,,,,,,OMIM ID:616000 +BMGC_DS16208,BMG_DS062335,Primary immunodeficiency syndrome due to p14 deficiency,UMLS ID:C4305256,Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Primary immunodeficiency syndrome due to p14 deficiency | Primary immunodeficiency syndrome with short stature,SNOMEDCT ID:718717004,,,,,,,,,, +BMGC_DS16209,BMG_DS062338,Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome,UMLS ID:C4305259,Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome,SNOMEDCT ID:718713000,,,,,,,,,, +BMGC_DS16210,BMG_DS062340,Congenital hypothyroidism due to absence of thyroid gland,UMLS ID:C4305275,Congenital hypothyroidism due to absence of thyroid gland (disorder) | Congenital hypothyroidism due to absence of thyroid gland,SNOMEDCT ID:718690009,,,,,,,,,, +BMGC_DS16211,BMG_DS062342,Distal monosomy 10q syndrome,UMLS ID:C4305277,Distal monosomy 10q | Distal deletion 10q | Distal monosomy 10q syndrome (disorder) | Distal monosomy 10q syndrome,SNOMEDCT ID:718687003,,,,,,,,,, +BMGC_DS16212,BMG_DS062345,,UMLS ID:C4305324,,,,,acral self-healing collodion baby,MONDO:0017268,,,,,, +BMGC_DS16213,BMG_DS062348,Moyamoya disease with early onset achalasia,UMLS ID:C4305378,Moyamoya disease with early onset achalasia (disorder) | Moyamoya disease with early onset achalasia,SNOMEDCT ID:718551002,,,,,,,,,, +BMGC_DS16214,BMG_DS062352,Wartenberg Syndrome,UMLS ID:C4305399,,,,,,,Radial Neuropathy,MeSH ID:D020425,,,, +BMGC_DS16215,BMG_DS062410,Multi-Drug Resistant Nephrotic Syndrome,UMLS ID:C4305538,,,,,,,Nephrotic Syndrome,MeSH ID:D009404,,,, +BMGC_DS16216,BMG_DS062420,Mayer-Rokitansky-Küster-Hauser syndrome type 2,UMLS ID:C4305568,"Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) | Mayer-Rokitansky-Küster-Hauser syndrome type 2 | Atypical MRKH (Mayer Rokitansky Kuster Hauser) syndrome | Mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome",SNOMEDCT ID:717705004,,,Mayer-Rokitansky-Küster-Hauser syndrome type 2,MONDO:0010989,,,,,,OMIM ID:601076 +BMGC_DS16217,BMG_DS062428,"Hypercalcemia, Infantile, 1",UMLS ID:C4310232,,,,,"hypercalcemia, infantile, 1",MONDO:0020739,,MeSH ID:C562999,,,,OMIM ID:143880 +BMGC_DS16218,BMG_DS062429,"Hypercalcemia, infantile, 2",UMLS ID:C4310473,,,,,"hypercalcemia, infantile, 2",MONDO:0014851,,MeSH ID:C562999,,,,OMIM ID:616963 +BMGC_DS16219,BMG_DS062431,OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder),UMLS ID:C4310614,"Otulipenia | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) | OTULIN (OTU deubiquitinase with linear linkage specificity) related autoinflammatory syndrome | OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome | OTULIN-related autoinflammatory syndrome | Infantile-onset periodic fever, panniculitis, dermatosis syndrome",SNOMEDCT ID:765435009,,,infantile-onset periodic fever-panniculitis-dermatosis syndrome,MONDO:0014912,,,,,,OMIM ID:617099 +BMGC_DS16220,BMG_DS062432,"ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE",UMLS ID:C4310616,,,,,"ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type",MONDO:0015024,,,ectodermal dysplasia 12,DOID:0111652,,OMIM ID:617337 | OMIM ID:616758 +BMGC_DS16221,BMG_DS062433,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS,UMLS ID:C4310617,,,,,intellectual developmental disorder with dysmorphic facies and ptosis,MONDO:0015022,,,,,,OMIM ID:617333 | OMIM ID:602410 +BMGC_DS16222,BMG_DS062434,"HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME",UMLS ID:C4310618,,,,,"hypotonia, ataxia, and delayed development syndrome",MONDO:0015021,,,"hypotonia, ataxia, and delayed development syndrome",DOID:0081176,,OMIM ID:617330 | OMIM ID:607407 +BMGC_DS16223,BMG_DS062435,,UMLS ID:C4310619,,,,,"intellectual disability, autosomal recessive 59",MONDO:0015020,,,,,,OMIM ID:617323 +BMGC_DS16224,BMG_DS062436,Yao syndrome,UMLS ID:C4310620,Yao syndrome | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) | NOD2-associated autoinflammatory disease | Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease | NOD2 (nucleotide binding oligomerization domain containing 2) associated autoinflammatory disease,SNOMEDCT ID:768667002,,,Yao syndrome,MONDO:0015019,,MeSH ID:C000730393,,,,OMIM ID:617321 +BMGC_DS16225,BMG_DS062437,"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12",UMLS ID:C4310621,,,,,"ichthyosis, congenital, autosomal recessive 12",MONDO:0015018,,,,,,OMIM ID:605848 | OMIM ID:617320 +BMGC_DS16226,BMG_DS062438,,UMLS ID:C4310622,,,,,anterior segment dysgenesis 8,MONDO:0015017,,,,,,OMIM ID:617319 +BMGC_DS16227,BMG_DS062439,ANTERIOR SEGMENT DYSGENESIS 6,UMLS ID:C4310623,,,,,anterior segment dysgenesis 6,MONDO:0015016,,,anterior segment dysgenesis 6,DOID:0080611,,OMIM ID:617315 | OMIM ID:601771 +BMGC_DS16228,BMG_DS062440,"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6",UMLS ID:C4310624,,,,,congenital bile acid synthesis defect 6,MONDO:0015015,,,congenital bile acid synthesis defect 6,DOID:0111067,,OMIM ID:617308 | OMIM ID:601641 +BMGC_DS16229,BMG_DS062441,"COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",UMLS ID:C4310625,,,,,"coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness",MONDO:0015014,,,,,,OMIM ID:617306 | OMIM ID:156845 +BMGC_DS16230,BMG_DS062442,RETINITIS PIGMENTOSA 77,UMLS ID:C4310626,,,,,retinitis pigmentosa 77,MONDO:0015013,,,,,,OMIM ID:617304 | OMIM ID:609346 +BMGC_DS16231,BMG_DS062443,MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME,UMLS ID:C4310627,,,,,mucopolysaccharidosis-plus syndrome,MONDO:0015012,,,,,,OMIM ID:617303 | OMIM ID:610034 +BMGC_DS16232,BMG_DS062444,OPTIC ATROPHY 11,UMLS ID:C4310628,,,,,optic atrophy 11,MONDO:0015011,,,optic atrophy 11,DOID:0111436,,OMIM ID:607472 | OMIM ID:617302 +BMGC_DS16233,BMG_DS062445,LYMPHATIC MALFORMATION 7,UMLS ID:C4310629,,,,,lymphatic malformation 7,MONDO:0015009,,,central conducting lymphatic anomaly,DOID:0081030,,OMIM ID:617300 | OMIM ID:600011 +BMGC_DS16234,BMG_DS062446,,UMLS ID:C4310630,,,,,"amelogenesis imperfecta, type 1J",MONDO:0015008,,,,,,OMIM ID:617297 +BMGC_DS16235,BMG_DS062447,"EPIDERMOLYSIS BULLOSA SIMPLEX 6, GENERALIZED INTERMEDIATE, WITH OR WITHOUT CARDIOMYOPATHY",UMLS ID:C4310631,,,,,"epidermolysis bullosa simplex 6, generalized, with scarring and hair loss",MONDO:0015006,,,,,,OMIM ID:617294 +BMGC_DS16236,BMG_DS062448,"EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT",UMLS ID:C4310632,,,,,"epilepsy, early-onset, vitamin B6-dependent",MONDO:0015005,,,early-onset vitamin B6-dependent epilepsy 1,DOID:0080769,,OMIM ID:617290 | OMIM ID:604436 +BMGC_DS16237,BMG_DS062449,Dystonia 28,UMLS ID:C4310633,Dystonia 28 | DYT28 - dystonia 28 | Dystonia 28 (disorder) | KMT2B-related dystonia | Lysine methyltransferase 2B-related dystonia,SNOMEDCT ID:1281844004,,,"dystonia 28, childhood-onset",MONDO:0015004,,,"dystonia 28, childhood-onset",DOID:0060936,,OMIM ID:617284 +BMGC_DS16238,BMG_DS062450,MEPAN syndrome,UMLS ID:C4310634,"Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) | MEPAN syndrome | Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome | DYT29 - dystonia 29 | Autosomal recessive childhood-onset dystonia DYT29 type | Childhood-onset generalized dystonia, optic atrophy syndrome | Childhood-onset generalised dystonia, optic atrophy syndrome",SNOMEDCT ID:1236805005,,,"dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",MONDO:0015003,,,,,,OMIM ID:617282 +BMGC_DS16239,BMG_DS062451,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49,UMLS ID:C4310635,,,,,"developmental and epileptic encephalopathy, 49",MONDO:0015002,,,developmental and epileptic encephalopathy 49,DOID:0080441,,OMIM ID:617281 | OMIM ID:617278 +BMGC_DS16240,BMG_DS062452,"ATRIAL FIBRILLATION, FAMILIAL, 18",UMLS ID:C4310636,,,,,"atrial fibrillation, familial, 18",MONDO:0015001,,,,,,OMIM ID:617280 | OMIM ID:160770 +BMGC_DS16241,BMG_DS062453,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48,UMLS ID:C4310637,,,,,"developmental and epileptic encephalopathy, 48",MONDO:0015000,,,developmental and epileptic encephalopathy 48,DOID:0080448,,OMIM ID:617276 | OMIM ID:602166 +BMGC_DS16242,BMG_DS062454,,UMLS ID:C4310638,,,,,"tooth agenesis, selective, 9",MONDO:0014999,,,,,,OMIM ID:617275 +BMGC_DS16243,BMG_DS062455,"GLAUCOMA 3, PRIMARY CONGENITAL, E",UMLS ID:C4310639,,,,,"glaucoma 3, primary congenital, E",MONDO:0014998,,,,,,OMIM ID:600221 | OMIM ID:617272 +BMGC_DS16244,BMG_DS062456,NEPHRONOPHTHISIS 20,UMLS ID:C4310640,,,,,nephronophthisis 20,MONDO:0014997,,,nephronophthisis 20,DOID:0111127,,OMIM ID:616786 | OMIM ID:617271 +BMGC_DS16245,BMG_DS062457,,UMLS ID:C4310641,,,,,"intellectual disability, autosomal recessive 58",MONDO:0014996,,,,,,OMIM ID:617270 +BMGC_DS16246,BMG_DS062458,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE",UMLS ID:C4310643,,,,,"neurodevelopmental disorder with hypotonia, seizures, and absent language",MONDO:0014995,,,,,,OMIM ID:617245 | OMIM ID:617268 +BMGC_DS16247,BMG_DS062459,"GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES",UMLS ID:C4310644,,,,,"global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies",MONDO:0014994,,,,,,OMIM ID:617260 +BMGC_DS16248,BMG_DS062460,"MYOPATHY, MYOFIBRILLAR, 8",UMLS ID:C4310645,,,,,myofibrillar myopathy 8,MONDO:0014993,,,myofibrillar myopathy 8,DOID:0080308,,OMIM ID:617220 | OMIM ID:617258 +BMGC_DS16249,BMG_DS062461,LISSENCEPHALY 8,UMLS ID:C4310646,,,,,lissencephaly 8,MONDO:0014992,,,lissencephaly 8,DOID:0112233,,OMIM ID:617255 | OMIM ID:617218 +BMGC_DS16250,BMG_DS062462,SECKEL SYNDROME 10,UMLS ID:C4310647,,,,,Seckel syndrome 10,MONDO:0014991,,,Seckel syndrome 10,DOID:0070008,,OMIM ID:617253 | OMIM ID:617246 +BMGC_DS16251,BMG_DS062463,UNCOMBABLE HAIR SYNDROME 3,UMLS ID:C4310648,,,,,uncombable hair syndrome 3,MONDO:0014990,,,,,,OMIM ID:617252 | OMIM ID:190370 +BMGC_DS16252,BMG_DS062464,UNCOMBABLE HAIR SYNDROME 2,UMLS ID:C4310649,,,,,uncombable hair syndrome 2,MONDO:0014989,,,,,,OMIM ID:617251 | OMIM ID:600238 +BMGC_DS16253,BMG_DS062465,"3-METHYLGLUTACONIC ACIDURIA, TYPE VIII",UMLS ID:C4310650,,,,,3-methylglutaconic aciduria type 8,MONDO:0044723,,,3-methylglutaconic aciduria type 8,DOID:0070000,,OMIM ID:617248 +BMGC_DS16254,BMG_DS062466,"FANCONI ANEMIA, COMPLEMENTATION GROUP U",UMLS ID:C4310651,,,,,Fanconi anemia complementation group U,MONDO:0014987,,,Fanconi anemia complementation group U,DOID:0111085,,OMIM ID:617247 | OMIM ID:600375 +BMGC_DS16255,BMG_DS062467,"FANCONI ANEMIA, COMPLEMENTATION GROUP V",UMLS ID:C4310652,,,,,Fanconi anemia complementation group V,MONDO:0014985,,,Fanconi anemia complementation group V,DOID:0111080,,OMIM ID:617243 | OMIM ID:604094 +BMGC_DS16256,BMG_DS062468,"LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME",UMLS ID:C4310653,,,,,"lung disease, immunodeficiency, and chromosome breakage syndrome;",MONDO:0014984,,,,,,OMIM ID:617241 | OMIM ID:608243 +BMGC_DS16257,BMG_DS062469,"MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC",UMLS ID:C4310654,,,,,congenital myasthenic syndrome 21,MONDO:0014983,,,congenital myasthenic syndrome 21,DOID:0110672,,OMIM ID:617239 | OMIM ID:600336 +BMGC_DS16258,BMG_DS062470,"MYOPIA 25, AUTOSOMAL DOMINANT",UMLS ID:C4310655,,,,,"myopia 25, autosomal dominant",MONDO:0014982,,,,,,OMIM ID:617238 | OMIM ID:600608 +BMGC_DS16259,BMG_DS062471,IMMUNODEFICIENCY 49,UMLS ID:C4310656,,,,,immunodeficiency 49,MONDO:0014981,,,immunodeficiency 49,DOID:0111979,,OMIM ID:617237 | OMIM ID:606558 +BMGC_DS16260,BMG_DS062472,"MYOCLONUS, INTRACTABLE, NEONATAL",UMLS ID:C4310658,,,,,"myoclonus, intractable, neonatal",MONDO:0014979,,,,,,OMIM ID:617235 | OMIM ID:602821 +BMGC_DS16261,BMG_DS062473,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16,UMLS ID:C4310659,,,,,,,,,,,,OMIM ID:617234 | OMIM ID:610363 +BMGC_DS16262,BMG_DS062474,POGLUT1-related limb girdle muscular dystrophy R21,UMLS ID:C4310660,POGLUT1-related limb girdle muscular dystrophy R21 | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) | Limb girdle muscular dystrophy type 2Z | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 | Autosomal recessive limb girdle muscular dystrophy type 2Z,SNOMEDCT ID:1172703004,,,autosomal recessive limb-girdle muscular dystrophy type 2R1,MONDO:0014977,,,,,,OMIM ID:617232 +BMGC_DS16263,BMG_DS062475,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31,UMLS ID:C4310661,,,,,lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,MONDO:0014976,,,combined oxidative phosphorylation deficiency 31,DOID:0111488,,OMIM ID:617228 | OMIM ID:602241 +BMGC_DS16264,BMG_DS062476,"SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED",UMLS ID:C4310663,,,,,"sudden cardiac failure, alcohol-induced",MONDO:0014974,,,,,,OMIM ID:617223 | OMIM ID:609988 +BMGC_DS16265,BMG_DS062477,"SUDDEN CARDIAC FAILURE, INFANTILE",UMLS ID:C4310664,,,,,"sudden cardiac failure, infantile",MONDO:0014973,,,,,,OMIM ID:617222 | OMIM ID:609988 +BMGC_DS16266,BMG_DS062478,"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6",UMLS ID:C4310665,,,,,"amelogenesis imperfecta, hypomaturation type, IIa6",MONDO:0014971,,,amelogenesis imperfecta type 2A6,DOID:0080960,,OMIM ID:601404 | OMIM ID:617217 +BMGC_DS16267,BMG_DS062479,SPERMATOGENIC FAILURE 17,UMLS ID:C4310666,,,,,spermatogenic failure 17,MONDO:0014970,,,spermatogenic failure 17,DOID:0070174,,OMIM ID:608075 | OMIM ID:617214 +BMGC_DS16268,BMG_DS062480,"ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",UMLS ID:C4310667,,,,,"encephalopathy, progressive, with amyotrophy and optic atrophy",MONDO:0014968,,,,,,OMIM ID:604934 | OMIM ID:617207 +BMGC_DS16269,BMG_DS062481,"HETEROTAXY, VISCERAL, 8, AUTOSOMAL",UMLS ID:C4310668,,,,,"heterotaxy, visceral, 8, autosomal",MONDO:0014967,,,,,,OMIM ID:609721 | OMIM ID:617205 +BMGC_DS16270,BMG_DS062482,PERIVENTRICULAR NODULAR HETEROTOPIA 7,UMLS ID:C4310669,,,,,periventricular nodular heterotopia 7,MONDO:0014966,,,,,,OMIM ID:606384 | OMIM ID:617201 +BMGC_DS16271,BMG_DS062483,LETHAL CONGENITAL CONTRACTURE SYNDROME 11,UMLS ID:C4310670,,,,,lethal congenital contracture syndrome 11,MONDO:0014965,,,,,,OMIM ID:617194 | OMIM ID:608603 +BMGC_DS16272,BMG_DS062484,SHASHI-PENA SYNDROME,UMLS ID:C4310672,,,,,Shashi-Pena syndrome,MONDO:0014963,,,,,,OMIM ID:612991 | OMIM ID:617190 +BMGC_DS16273,BMG_DS062485,,UMLS ID:C4310673,,,,,"intellectual disability, autosomal recessive 57",MONDO:0014962,,,,,,OMIM ID:617188 +BMGC_DS16274,BMG_DS062486,SPERMATOGENIC FAILURE 16,UMLS ID:C4310674,,,,,spermatogenic failure 16,MONDO:0014961,,,spermatogenic failure 16,DOID:0070184,,OMIM ID:617187 | OMIM ID:613942 +BMGC_DS16275,BMG_DS062487,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",UMLS ID:C4310675,,,,,"encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1",MONDO:0020781,,,,,,OMIM ID:617186 | OMIM ID:608862 +BMGC_DS16276,BMG_DS062488,"MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT",UMLS ID:C4310676,,,,,"mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant",MONDO:0014959,,,mitochondrial DNA depletion syndrome 12a,DOID:0080130,,OMIM ID:103220 | OMIM ID:617184 +BMGC_DS16277,BMG_DS062489,"Ocular anomalies, axonal neuropathy, developmental delay syndrome",UMLS ID:C4310677,"Ocular anomalies, axonal neuropathy, developmental delay syndrome | Harel Yoon syndrome | Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)",SNOMEDCT ID:1172586007,,,Harel-Yoon syndrome,MONDO:0014958,,,,,,OMIM ID:617183 +BMGC_DS16278,BMG_DS062490,"LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA",UMLS ID:C4310678,,,,,language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia,MONDO:0014957,,,,,,OMIM ID:617182 | OMIM ID:604447 +BMGC_DS16279,BMG_DS062491,CHITAYAT SYNDROME,UMLS ID:C4310679,,,,,Chitayat syndrome,MONDO:0014956,,,,,,OMIM ID:617180 | OMIM ID:611888 +BMGC_DS16280,BMG_DS062492,RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES,UMLS ID:C4310680,,,,,RCBTB1-related retinopathy,MONDO:0014955,,,,,,OMIM ID:617175 | OMIM ID:607867 +BMGC_DS16281,BMG_DS062493,"EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2",UMLS ID:C4310681,,,,,"Ehlers-Danlos syndrome, periodontal type 2",MONDO:0014954,,,Ehlers-Danlos syndrome periodontal type 2,DOID:0080987,,OMIM ID:617174 | OMIM ID:120580 +BMGC_DS16282,BMG_DS062494,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES,UMLS ID:C4310683,,,,,intellectual disability-epilepsy-extrapyramidal syndrome,MONDO:0014952,,,,,,OMIM ID:617171 | OMIM ID:602635 +BMGC_DS16283,BMG_DS062495,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 74",UMLS ID:C4310684,,,,,"intellectual developmental disorder, autosomal recessive 74",MONDO:0014951,,,Sotos syndrome 3 | autosomal recessive intellectual developmental disorder 74,DOID:0081218;DOID:0112104,,OMIM ID:617169 | OMIM ID:612034 +BMGC_DS16284,BMG_DS062496,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47",UMLS ID:C4310685,,,,,"developmental and epileptic encephalopathy, 47",MONDO:0014949,,,developmental and epileptic encephalopathy 47,DOID:0080425,,OMIM ID:617166 +BMGC_DS16285,BMG_DS062497,SHORT STATURE-MICROGNATHIA SYNDROME,UMLS ID:C4310686,,,,,"short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay",MONDO:0014948,,,,,,OMIM ID:617164 | OMIM ID:600820 +BMGC_DS16286,BMG_DS062498,,UMLS ID:C4310687,,,,,"developmental and epileptic encephalopathy, 46",MONDO:0014947,,,,,,OMIM ID:617162 +BMGC_DS16287,BMG_DS062499,SIFRIM-HITZ-WEISS SYNDROME,UMLS ID:C4310688,,,,,Sifrim-Hitz-Weiss syndrome,MONDO:0014946,,,Sifrim-Hitz-Weiss syndrome,DOID:0070529,,OMIM ID:617159 | OMIM ID:603277 +BMGC_DS16288,BMG_DS062500,"SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES",UMLS ID:C4310689,,,,,short stature-brachydactyly-obesity-global developmental delay syndrome,MONDO:0014944,,,,,,OMIM ID:610087 | OMIM ID:617157 +BMGC_DS16289,BMG_DS062501,MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE),UMLS ID:C4310690,,,,,mitochondrial DNA depletion syndrome 15 (hepatocerebral type),MONDO:0014943,,,mitochondrial DNA depletion syndrome 15,DOID:0080337,,OMIM ID:600438 | OMIM ID:617156 +BMGC_DS16290,BMG_DS062502,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45,UMLS ID:C4310691,,,,,"developmental and epileptic encephalopathy, 45",MONDO:0014942,,,developmental and epileptic encephalopathy 45,DOID:0080428,,OMIM ID:617153 | OMIM ID:137190 +BMGC_DS16291,BMG_DS062503,"ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH",UMLS ID:C4310692,,,,,"arthrogryposis, distal, with impaired proprioception and touch",MONDO:0014941,,,,,,OMIM ID:617146 | OMIM ID:613629 +BMGC_DS16292,BMG_DS062504,"NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET",UMLS ID:C4310693,,,,,"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",MONDO:0014940,,,"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",DOID:0081364,,OMIM ID:617145 | OMIM ID:601530 +BMGC_DS16293,BMG_DS062505,"MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC",UMLS ID:C4310694,,,,,congenital myasthenic syndrome 20,MONDO:0014939,,,congenital myasthenic syndrome 20,DOID:0110661,,OMIM ID:608761 | OMIM ID:617143 +BMGC_DS16294,BMG_DS062506,,UMLS ID:C4310695,,,,,aniridia 3,MONDO:0014938,,,,,,OMIM ID:617142 +BMGC_DS16295,BMG_DS062507,"Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome",UMLS ID:C4310696,"Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome | Zhu Tokita Takenouchi Kim syndrome | ZTTK syndrome | Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome (disorder)",SNOMEDCT ID:1169355000,,,ZTTK syndrome,MONDO:0014936,,,ZTTK syndrome,DOID:0060953,,OMIM ID:617140 +BMGC_DS16296,BMG_DS062508,FRONTOMETAPHYSEAL DYSPLASIA 2,UMLS ID:C4310697,,,,,frontometaphyseal dysplasia 2,MONDO:0014935,,,frontometaphyseal dysplasia 2,DOID:0111787,,OMIM ID:617137 | OMIM ID:602614 +BMGC_DS16297,BMG_DS062509,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24",UMLS ID:C4310699,,,,,"spinocerebellar ataxia, autosomal recessive 24",MONDO:0014934,,,autosomal recessive spinocerebellar ataxia 24,DOID:0111615,,OMIM ID:617133 | OMIM ID:610552 +BMGC_DS16298,BMG_DS062510,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44,UMLS ID:C4310700,,,,,"developmental and epileptic encephalopathy, 44",MONDO:0014933,,,developmental and epileptic encephalopathy 44,DOID:0080424,,OMIM ID:617132 | OMIM ID:610552 +BMGC_DS16299,BMG_DS062511,OROFACIODIGITAL SYNDROME XV,UMLS ID:C4310701,,,,,orofaciodigital syndrome XV,MONDO:0014932,,,,,,OMIM ID:617112 | OMIM ID:617127 +BMGC_DS16300,BMG_DS062512,ALAZAMI-YUAN SYNDROME,UMLS ID:C4310702,,,,,Alazami-Yuan syndrome,MONDO:0014931,,,,,,OMIM ID:602955 | OMIM ID:617126 +BMGC_DS16301,BMG_DS062513,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56",UMLS ID:C4310703,,,,,"intellectual disability, autosomal recessive 56",MONDO:0014930,,,autosomal recessive intellectual developmental disorder 56,DOID:0081217,,OMIM ID:617125 | OMIM ID:613279 +BMGC_DS16302,BMG_DS062514,RETINITIS PIGMENTOSA 76,UMLS ID:C4310704,,,,,retinitis pigmentosa 76,MONDO:0014929,,,,,,OMIM ID:617123 | OMIM ID:606822 +BMGC_DS16303,BMG_DS062515,JOUBERT SYNDROME 28,UMLS ID:C4310705,,,,,Joubert syndrome 28,MONDO:0014928,,,Joubert syndrome 28,DOID:0110997,,OMIM ID:617121 | OMIM ID:609883 +BMGC_DS16304,BMG_DS062516,JOUBERT SYNDROME 27,UMLS ID:C4310706,,,,,Joubert syndrome 27,MONDO:0014927,,,Joubert syndrome 27,DOID:0110996,,OMIM ID:617120 | OMIM ID:614144 +BMGC_DS16305,BMG_DS062517,BARDET-BIEDL SYNDROME 20,UMLS ID:C4310707,,,,,Bardet-Biedl syndrome 20,MONDO:0023670,,,Bardet-Biedl syndrome 20,DOID:0081009,,OMIM ID:607386 | OMIM ID:619471 +BMGC_DS16306,BMG_DS062518,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3",UMLS ID:C4310708,,,,,"epilepsy, familial focal, with variable foci 3",MONDO:0014925,,,familial focal epilepsy with variable foci 3,DOID:0081423,,OMIM ID:600928 | OMIM ID:617118 +BMGC_DS16307,BMG_DS062519,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2",UMLS ID:C4310709,,,,,"epilepsy, familial focal, with variable foci 2",MONDO:0014924,,,familial focal epilepsy with variable foci 2,DOID:0081422,,OMIM ID:617116 | OMIM ID:607072 +BMGC_DS16308,BMG_DS062520,PEELING SKIN SYNDROME 5,UMLS ID:C4310710,,,,,peeling skin syndrome 5,MONDO:0014923,,,peeling skin syndrome 5,DOID:0070524,,OMIM ID:617115 | OMIM ID:601697 +BMGC_DS16309,BMG_DS062521,"MYOPATHY, MYOFIBRILLAR, 7",UMLS ID:C4310711,,,,,myofibrillar myopathy 7,MONDO:0014922,,,myofibrillar myopathy 7,DOID:0080098,,OMIM ID:617114 | OMIM ID:605739 +BMGC_DS16310,BMG_DS062522,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43,UMLS ID:C4310712,,,,,"developmental and epileptic encephalopathy, 43",MONDO:0014921,,,developmental and epileptic encephalopathy 43,DOID:0080447,,OMIM ID:137192 | OMIM ID:617113 +BMGC_DS16311,BMG_DS062523,Martinique crinkled retinal pigment epitheliopathy,UMLS ID:C4310713,Martinique crinkled retinal pigment epitheliopathy | Martinique crinkled retinal pigment epitheliopathy (disorder) | MCRPE - Martinique crinkled retinal pigment epitheliopathy,SNOMEDCT ID:1187639002,,,patterned macular dystrophy 3,MONDO:0014920,,,,,,OMIM ID:617111 +BMGC_DS16312,BMG_DS062524,,UMLS ID:C4310714,,,,,sessile serrated polyposis cancer syndrome,MONDO:0014919,,,,,,OMIM ID:617108 +BMGC_DS16313,BMG_DS062525,"Tall stature, intellectual disability, renal anomalies syndrome",UMLS ID:C4310715,"Tall stature, intellectual disability, renal anomalies syndrome | Thauvin Robinet Faivre syndrome | Tall stature, intellectual disability, renal anomalies syndrome (disorder)",SNOMEDCT ID:1169359006,,,tall stature-intellectual disability-renal anomalies syndrome,MONDO:0014918,,,,,,OMIM ID:617107 +BMGC_DS16314,BMG_DS062526,,UMLS ID:C4310716,,,,,"developmental and epileptic encephalopathy, 42",MONDO:0014917,,,,,,OMIM ID:617106 +BMGC_DS16315,BMG_DS062527,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41,UMLS ID:C4310717,,,,,"developmental and epileptic encephalopathy, 41",MONDO:0014916,,,developmental and epileptic encephalopathy 41,DOID:0080442,,OMIM ID:600300 | OMIM ID:617105 +BMGC_DS16316,BMG_DS062528,SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C4310718,,,,,short-rib thoracic dysplasia 16 with or without polydactyly,MONDO:0014915,,,,,,OMIM ID:617102 +BMGC_DS16317,BMG_DS062529,FAMILIAL ADENOMATOUS POLYPOSIS 4,UMLS ID:C4310719,,,,,familial adenomatous polyposis 4,MONDO:0044300,,,familial adenomatous polyposis 4,DOID:0080412,,OMIM ID:600887 | OMIM ID:617100 +BMGC_DS16318,BMG_DS062530,"GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY",UMLS ID:C4310720,,,,,"growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy",MONDO:0014911,,,,,,OMIM ID:600709 | OMIM ID:617093 +BMGC_DS16319,BMG_DS062531,"CILIARY DYSKINESIA, PRIMARY, 35",UMLS ID:C4310721,,,,,primary ciliary dyskinesia 35,MONDO:0014910,,,primary ciliary dyskinesia 35,DOID:0110620,,OMIM ID:617092 | OMIM ID:617095 +BMGC_DS16320,BMG_DS062532,"CILIARY DYSKINESIA, PRIMARY, 34",UMLS ID:C4310722,,,,,primary ciliary dyskinesia 34,MONDO:0014909,,,primary ciliary dyskinesia 34,DOID:0110610,,OMIM ID:617091 | OMIM ID:610263 +BMGC_DS16321,BMG_DS062533,"MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4310723,,,,,"microcephaly 17, primary, autosomal recessive",MONDO:0014908,,,primary autosomal recessive microcephaly 17,DOID:0070288,,OMIM ID:605629 | OMIM ID:617090 +BMGC_DS16322,BMG_DS062534,SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY,UMLS ID:C4310724,,,,,short-rib thoracic dysplasia 15 with polydactyly,MONDO:0014907,,,,,,OMIM ID:617088 | OMIM ID:617083 +BMGC_DS16323,BMG_DS062535,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B",UMLS ID:C4310725,,,,,"Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;",MONDO:0014906,,,Charcot-Marie-Tooth disease type 2A2B,DOID:0111557,,OMIM ID:617087 +BMGC_DS16324,BMG_DS062536,ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2,UMLS ID:C4310726,,,,,encephalopathy due to defective mitochondrial and peroxisomal fission 2,MONDO:0014905,,,encephalopathy due to defective mitochondrial and peroxisomal fission 2,DOID:0060994,,OMIM ID:617086 | OMIM ID:614785 +BMGC_DS16325,BMG_DS062537,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa",UMLS ID:C4310727,,,,,"congenital disorder of glycosylation, type IAA",MONDO:0014904,,,congenital disorder of glycosylation Iaa,DOID:0080553,,OMIM ID:617082 | OMIM ID:610463 +BMGC_DS16326,BMG_DS062538,"SEIZURES, BENIGN FAMILIAL INFANTILE, 5",UMLS ID:C4310728,,,,,"seizures, benign familial infantile, 5",MONDO:0014903,,,benign familial infantile seizures 5,DOID:0081118,,OMIM ID:617080 | OMIM ID:600702 +BMGC_DS16327,BMG_DS062539,,UMLS ID:C4310729,,,,,"nasopharyngeal carcinoma, susceptibility to, 3",MONDO:0014902,,,,,,OMIM ID:617075 +BMGC_DS16328,BMG_DS062540,"TOOTH AGENESIS, SELECTIVE, 8",UMLS ID:C4310730,,,,,"tooth agenesis, selective, 8",MONDO:0014901,,,,,,OMIM ID:617073 | OMIM ID:601906 +BMGC_DS16329,BMG_DS062541,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",UMLS ID:C4310733,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",MONDO:0014899,,,autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4,DOID:0111516,,OMIM ID:617070 | OMIM ID:601465 +BMGC_DS16330,BMG_DS062542,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3",UMLS ID:C4310734,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3",MONDO:0014898,,,autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3,DOID:0111523,,OMIM ID:188250 | OMIM ID:617069 +BMGC_DS16331,BMG_DS062543,"PORTAL HYPERTENSION, NONCIRRHOTIC, 1",UMLS ID:C4310735,,,,,"portal hypertension, noncirrhotic",MONDO:0024193,,,,,,OMIM ID:601465 | OMIM ID:617068 +BMGC_DS16332,BMG_DS062544,"Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome",UMLS ID:C4310736,"Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) | Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome | Congenital muscular dystrophy Davignon Chauveau type",SNOMEDCT ID:1172688004,,,congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,MONDO:0014896,,,,,,OMIM ID:617066 +BMGC_DS16333,BMG_DS062545,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40,UMLS ID:C4310737,,,,,"developmental and epileptic encephalopathy, 40",MONDO:0014895,,,developmental and epileptic encephalopathy 40,DOID:0080427,,OMIM ID:617064 | OMIM ID:617065 +BMGC_DS16334,BMG_DS062546,MEIER-GORLIN SYNDROME 7,UMLS ID:C4310738,,,,,Meier-Gorlin syndrome 7,MONDO:0014894,,,Meier-Gorlin syndrome 7,DOID:0080518,,OMIM ID:603465 | OMIM ID:617063 +BMGC_DS16335,BMG_DS062547,OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME,UMLS ID:C4310739,,,,,Okur-Chung neurodevelopmental syndrome,MONDO:0014893,,,,,,OMIM ID:115440 | OMIM ID:617062 +BMGC_DS16336,BMG_DS062548,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY",UMLS ID:C4310740,,,,,micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,MONDO:0014892,,,autosomal dominant intellectual developmental disorder 44,DOID:0070074,,OMIM ID:601893 | OMIM ID:617061 +BMGC_DS16337,BMG_DS062549,"TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5",UMLS ID:C4310741,,,,,"hyperuricemic nephropathy, familial juvenile type 4",MONDO:0014891,,,,,,OMIM ID:609213 | OMIM ID:617056 +BMGC_DS16338,BMG_DS062550,PERCHING SYNDROME,UMLS ID:C4310742,,,,,PERCHING syndrome,MONDO:0014890,,,cold-induced sweating syndrome 3,DOID:0080331,,OMIM ID:611119 | OMIM ID:617055 +BMGC_DS16339,BMG_DS062551,Childhood-onset basal ganglia degeneration syndrome,UMLS ID:C4310743,Childhood-onset basal ganglia degeneration syndrome | Childhood-onset basal ganglia degeneration syndrome (disorder) | Lenk Ploski syndrome,SNOMEDCT ID:1172584005,,,"striatonigral degeneration, childhood-onset",MONDO:0014889,,,,,,OMIM ID:617054 +BMGC_DS16340,BMG_DS062552,BONE MARROW FAILURE SYNDROME 3,UMLS ID:C4310744,,,,,bone marrow failure syndrome 3,MONDO:0014887,,,,,,OMIM ID:617052 | OMIM ID:617048 +BMGC_DS16341,BMG_DS062553,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE,UMLS ID:C4310745,,,,,severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,MONDO:0014886,,,,,,OMIM ID:617051 | OMIM ID:616283 +BMGC_DS16342,BMG_DS062554,HERMANSKY-PUDLAK SYNDROME 10,UMLS ID:C4310746,,,,,Hermansky-Pudlak syndrome 10,MONDO:0014885,,,,,,OMIM ID:617050 | OMIM ID:607246 +BMGC_DS16343,BMG_DS062555,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5",UMLS ID:C4310747,,,,,"cholestasis, progressive familial intrahepatic, 5",MONDO:0014884,,,progressive familial intrahepatic cholestasis 5,DOID:0070225,,OMIM ID:603826 | OMIM ID:617049 +BMGC_DS16344,BMG_DS062556,"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5",UMLS ID:C4310748,,,,,"cardiomyopathy, familial restrictive, 5",MONDO:0800371,,,hypertrophic cardiomyopathy 26,DOID:0110327,,OMIM ID:617047 | OMIM ID:102565 +BMGC_DS16345,BMG_DS062557,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26",UMLS ID:C4310749,,,,,hypertrophic cardiomyopathy 26,MONDO:0014883,,,hypertrophic cardiomyopathy 26,DOID:0110327,,OMIM ID:617047 | OMIM ID:102565 +BMGC_DS16346,BMG_DS062558,DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS,UMLS ID:C4310752,,,,,Duane retraction syndrome 3 with or without deafness,MONDO:0014880,,,,,,OMIM ID:617041 +BMGC_DS16347,BMG_DS062559,,UMLS ID:C4310753,,,,,patent ductus arteriosus 3,MONDO:0024266,,,,,,OMIM ID:617039 +BMGC_DS16348,BMG_DS062560,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 54",UMLS ID:C4310755,,,,,"intellectual disability, autosomal recessive 54",MONDO:0014876,,,autosomal recessive intellectual developmental disorder 54,DOID:0081216,,OMIM ID:617028 | OMIM ID:610005 +BMGC_DS16349,BMG_DS062561,"HYPERALDOSTERONISM, FAMILIAL, TYPE IV",UMLS ID:C4310756,,,,,"hyperaldosteronism, familial, type IV",MONDO:0014875,,,,,,OMIM ID:617027 | OMIM ID:607904 +BMGC_DS16350,BMG_DS062562,"PONTOCEREBELLAR HYPOPLASIA, TYPE 2F",UMLS ID:C4310757,,,,,"pontocerebellar hypoplasia, type 2F",MONDO:0014874,,,pontocerebellar hypoplasia type 2F,DOID:0112329,,OMIM ID:617026 | OMIM ID:608756 +BMGC_DS16351,BMG_DS062563,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H",UMLS ID:C4310758,,,,,congenital stationary night blindness 1H,MONDO:0014872,,,congenital stationary night blindness 1H,DOID:0110866,,OMIM ID:617024 | OMIM ID:139130 +BMGC_DS16352,BMG_DS062564,RETINITIS PIGMENTOSA 75,UMLS ID:C4310759,,,,,retinitis pigmentosa 75,MONDO:0014871,,,,,,OMIM ID:617023 | OMIM ID:615900 +BMGC_DS16353,BMG_DS062565,"Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome",UMLS ID:C4310761,"Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome (disorder) | Hydrops, lactic acidosis, sideroblastic anaemia, multisystemic failure syndrome | Hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome",SNOMEDCT ID:1237349008,,,hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,MONDO:0014869,,,,,,OMIM ID:617021 +BMGC_DS16354,BMG_DS062566,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38,UMLS ID:C4310762,,,,,"developmental and epileptic encephalopathy, 38",MONDO:0014868,,,developmental and epileptic encephalopathy 38,DOID:0080417,,OMIM ID:617020 | OMIM ID:611647 +BMGC_DS16355,BMG_DS062567,SPINOCEREBELLAR ATAXIA 43,UMLS ID:C4310763,,,,,spinocerebellar ataxia 43,MONDO:0014867,,,cerebellar ataxia type 43,DOID:0111745,,OMIM ID:617018 | OMIM ID:120520 +BMGC_DS16356,BMG_DS062568,"NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",UMLS ID:C4310764,,,,,autosomal recessive severe congenital neutropenia due to CSF3R deficiency,MONDO:0014865,,,severe congenital neutropenia 7,DOID:0112129,,OMIM ID:617014 | OMIM ID:138971 +BMGC_DS16357,BMG_DS062569,Hypermanganesemia with dystonia 2,UMLS ID:C4310765,HMNDYT2 - hypermanganesemia with dystonia 2 | Hypermanganesemia with dystonia 2 (disorder) | Hypermanganesemia with dystonia 2,SNOMEDCT ID:768554008,,,hypermanganesemia with dystonia 2,MONDO:0014864,,,,,,OMIM ID:617013 +BMGC_DS16358,BMG_DS062570,"MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION",UMLS ID:C4310766,,,,,"macrocephaly, dysmorphic facies, and psychomotor retardation",MONDO:0014863,,,,,,OMIM ID:605109 | OMIM ID:617011 +BMGC_DS16359,BMG_DS062571,"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3",UMLS ID:C4310767,,,,,"cerebral palsy, spastic quadriplegic, 3",MONDO:0014862,,,spastic quadriplegic cerebral palsy 3,DOID:0081361,,OMIM ID:617008 | OMIM ID:601568 +BMGC_DS16360,BMG_DS062572,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2",UMLS ID:C4310768,,,,,"autoimmune disease, multisystem, infantile-onset, 2",MONDO:0014861,,,,,,OMIM ID:617006 | OMIM ID:176947 +BMGC_DS16361,BMG_DS062573,POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS,UMLS ID:C4310769,,,,,polycystic liver disease 2,MONDO:0014860,,,polycystic liver disease 2,DOID:0060975,,OMIM ID:617004 +BMGC_DS16362,BMG_DS062574,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37,UMLS ID:C4310770,,,,,"developmental and epileptic encephalopathy, 37",MONDO:0014859,,,developmental and epileptic encephalopathy 37,DOID:0080435,,OMIM ID:616981 | OMIM ID:604574 +BMGC_DS16363,BMG_DS062575,,UMLS ID:C4310771,,,,,"intellectual disability, autosomal dominant 43",MONDO:0014858,,,,,,OMIM ID:616977 +BMGC_DS16364,BMG_DS062576,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART",UMLS ID:C4310772,,,,,"neurodevelopmental disorder with or without anomalies of the brain, eye, or heart",MONDO:0014857,,,,,,OMIM ID:616975 +BMGC_DS16365,BMG_DS062577,,UMLS ID:C4310774,,,,,"intellectual disability, autosomal dominant 42",MONDO:0014855,,,,,,OMIM ID:616973 +BMGC_DS16366,BMG_DS062578,"DEAFNESS, AUTOSOMAL DOMINANT 70",UMLS ID:C4310775,,,,,autosomal dominant nonsyndromic hearing loss 70,MONDO:0014853,,,,,,OMIM ID:616968 | OMIM ID:116945 +BMGC_DS16367,BMG_DS062579,RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS,UMLS ID:C4310776,,,,,retinitis pigmentosa and erythrocytic microcytosis,MONDO:0014850,,,,,,OMIM ID:616959 | OMIM ID:612907 +BMGC_DS16368,BMG_DS062580,"TELO2-related intellectual disability, neurodevelopmental disorder",UMLS ID:C4310778,"Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) | TELO2-related intellectual disability, neurodevelopmental disorder | Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder | You Hoover Fong syndrome",SNOMEDCT ID:1172626003,,,TELO2-related intellectual disability-neurodevelopmental disorder,MONDO:0014848,,,,,,OMIM ID:616954 +BMGC_DS16369,BMG_DS062581,SPERMATOGENIC FAILURE 15,UMLS ID:C4310779,,,,,spermatogenic failure 15,MONDO:0014847,,,spermatogenic failure 15,DOID:0070172,,OMIM ID:616950 | OMIM ID:611486 +BMGC_DS16370,BMG_DS062582,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22",UMLS ID:C4310781,,,,,"spinocerebellar ataxia, autosomal recessive 22",MONDO:0014845,,,autosomal recessive spinocerebellar ataxia 22,DOID:0111614,,OMIM ID:614884 | OMIM ID:616948 +BMGC_DS16371,BMG_DS062583,PREMATURE OVARIAN FAILURE 12,UMLS ID:C4310782,,,,,premature ovarian failure 12,MONDO:0014844,,,primary ovarian insufficiency 12,DOID:0080869,,OMIM ID:611486 | OMIM ID:616947 +BMGC_DS16372,BMG_DS062584,PREMATURE OVARIAN FAILURE 11,UMLS ID:C4310783,,,,,premature ovarian failure 11,MONDO:0014843,,,primary ovarian insufficiency 11,DOID:0080868,,OMIM ID:609413 | OMIM ID:616946 +BMGC_DS16373,BMG_DS062585,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41",UMLS ID:C4310784,,,,,"intellectual disability, autosomal dominant 41",MONDO:0014842,,,autosomal dominant intellectual developmental disorder 41,DOID:0070071,,OMIM ID:608628 | OMIM ID:616944 +BMGC_DS16374,BMG_DS062586,"TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE",UMLS ID:C4310785,,,,,"trichothiodystrophy 6, nonphotosensitive",MONDO:0014841,,,nonphotosensitive trichothiodystrophy 6,DOID:0111872,,OMIM ID:189964 | OMIM ID:616943 +BMGC_DS16375,BMG_DS062587,"AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT",UMLS ID:C4310786,,,,,"agammaglobulinemia 8, autosomal dominant",MONDO:0014840,,,agammaglobulinemia 8A,DOID:0081140,,OMIM ID:616941 | OMIM ID:147141 +BMGC_DS16376,BMG_DS062588,"CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION",UMLS ID:C4310787,,,,,"chorea, childhood-onset, with psychomotor retardation",MONDO:0014839,,,,,,OMIM ID:607468 | OMIM ID:616939 +BMGC_DS16377,BMG_DS062589,COFFIN-SIRIS SYNDROME 5,UMLS ID:C4310788,,,,,Coffin-Siris syndrome 5,MONDO:0014838,,,Coffin-Siris syndrome 5,DOID:0112368,,OMIM ID:616938 | OMIM ID:603111 +BMGC_DS16378,BMG_DS062590,THROMBOCYTOPENIA 6,UMLS ID:C4310789,,,,,thrombocytopenia 6,MONDO:0014837,,,,,,OMIM ID:616937 | OMIM ID:190090 +BMGC_DS16379,BMG_DS062591,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC",UMLS ID:C4310790,,,,,Charcot-Marie-Tooth disease axonal type 2CC,MONDO:0014836,,,Charcot-Marie-Tooth disease axonal type 2CC,DOID:0110180,,OMIM ID:616924 | OMIM ID:162230 +BMGC_DS16380,BMG_DS062592,"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",UMLS ID:C4310791,,,,,"striatal degeneration, autosomal dominant 2",MONDO:0014835,,,striatal degeneration 2,DOID:0060998,,OMIM ID:616922 | OMIM ID:610652 +BMGC_DS16381,BMG_DS062593,HEART AND BRAIN MALFORMATION SYNDROME,UMLS ID:C4310793,,,,,heart and brain malformation syndrome,MONDO:0014833,,,,,,OMIM ID:616920 | OMIM ID:613176 +BMGC_DS16382,BMG_DS062594,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY",UMLS ID:C4310794,,,,,"intellectual disability, autosomal recessive 53",MONDO:0014832,,,,,,OMIM ID:616917 | OMIM ID:616918 +BMGC_DS16383,BMG_DS062595,MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME,UMLS ID:C4310796,,,,,progeroid and marfanoid aspect-lipodystrophy syndrome,MONDO:0014831,,,,,,OMIM ID:134797 | OMIM ID:616914 +BMGC_DS16384,BMG_DS062596,"BLEEDING DISORDER, PLATELET-TYPE, 20",UMLS ID:C4310797,,,,,platelet-type bleeding disorder 20,MONDO:0014830,,,platelet-type bleeding disorder 20,DOID:0111055,,OMIM ID:614958 | OMIM ID:616913 +BMGC_DS16385,BMG_DS062597,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4,UMLS ID:C4310798,,,,,immunodeficiency-centromeric instability-facial anomalies syndrome 4,MONDO:0014829,,,,,,OMIM ID:616911 | OMIM ID:603946 +BMGC_DS16386,BMG_DS062598,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3,UMLS ID:C4310799,,,,,immunodeficiency-centromeric instability-facial anomalies syndrome 3,MONDO:0014828,,,,,,OMIM ID:616910 | OMIM ID:609937 +BMGC_DS16387,BMG_DS062599,"Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome",UMLS ID:C4310801,"Developmental delay, short stature, dysmorphic features, sparse hair syndrome | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Loucks Innes syndrome | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome",SNOMEDCT ID:1217229007,,,"developmental delay with short stature, dysmorphic facial features, and sparse hair",MONDO:0031632,,,,,, +BMGC_DS16388,BMG_DS062600,"PARKINSON DISEASE 19B, EARLY-ONSET",UMLS ID:C4310802,,,,,"parkinson disease 19B, early-onset",MONDO:0800369,,,,,,OMIM ID:608375 | OMIM ID:615528 +BMGC_DS16389,BMG_DS062601,IMMUNODEFICIENCY 51,UMLS ID:C4310803,,,,,immunodeficiency 51,MONDO:0013500,,,immunodeficiency 51,DOID:0111996,,OMIM ID:605461 | OMIM ID:613953 +BMGC_DS16390,BMG_DS062602,Witteveen Kolk syndrome,UMLS ID:C4310804,WITKOS - Witteveen Kolk syndrome | Witteveen Kolk syndrome | Witteveen Kolk syndrome (disorder) | SIN3A-related intellectual disability syndrome | SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome,SNOMEDCT ID:1187122000,,,SIN3A-related intellectual disability syndrome due to a point mutation,MONDO:0044700,,,,,, +BMGC_DS16391,BMG_DS062603,"BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS",UMLS ID:C4310805,,,,,Bartter disease type 4B,MONDO:0000909,,,,,,OMIM ID:613090 +BMGC_DS16392,BMG_DS062604,CATARACT 47,UMLS ID:C4310806,,,,,juvenile cataract-microcornea-renal glucosuria syndrome,MONDO:0012786,,,cataract 47,DOID:0070353,,OMIM ID:612018 +BMGC_DS16393,BMG_DS062605,BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME,UMLS ID:C4310807,,,,,brachydactyly-syndactyly-oligodactyly syndrome,MONDO:0800344,,,,,,OMIM ID:142989 | OMIM ID:610713 +BMGC_DS16394,BMG_DS062606,"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",UMLS ID:C4310808,,,,,autosomal dominant striatal neurodegeneration type 1,MONDO:0012205,,,,,,OMIM ID:603390 | OMIM ID:609161 +BMGC_DS16395,BMG_DS062607,ANTERIOR SEGMENT DYSGENESIS 5,UMLS ID:C4310809,,,,,,,,,anterior segment dysgenesis 5,DOID:0080610,,OMIM ID:604229 +BMGC_DS16396,BMG_DS062608,"MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS",UMLS ID:C4310810,,,,,"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",MONDO:0010516,,,"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",DOID:0111859,,OMIM ID:300195 | OMIM ID:300990 +BMGC_DS16397,BMG_DS062609,MEESTER-LOEYS SYNDROME,UMLS ID:C4310811,,,,,Meester-Loeys syndrome,MONDO:0010515,,,Meester-Loeys syndrome,DOID:0111861,,OMIM ID:301870 | OMIM ID:300989 +BMGC_DS16398,BMG_DS062610,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE",UMLS ID:C4310814,,,,,"intellectual disability, X-linked, syndromic, Bain type",MONDO:0010512,,,syndromic X-linked intellectual developmental disorder bain type,DOID:0070538,,OMIM ID:300610 | OMIM ID:300986 +BMGC_DS16399,BMG_DS062611,"VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED",UMLS ID:C4310815,,,,,"vas deferens, congenital bilateral aplasia of, X-linked",MONDO:0010511,,,X-linked congenital bilateral absence of vas deferens,DOID:0111863,,OMIM ID:300572 | OMIM ID:300985 +BMGC_DS16400,BMG_DS062612,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 105",UMLS ID:C4310816,,,,,"intellectual disability, X-linked 105",MONDO:0010510,,,non-syndromic X-linked intellectual disability 105,DOID:0112036,,OMIM ID:300984 | OMIM ID:300975 +BMGC_DS16401,BMG_DS062613,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 104",UMLS ID:C4310817,,,,,"intellectual disability, X-linked 104",MONDO:0010509,,,non-syndromic X-linked intellectual disability 104,DOID:0112018,,OMIM ID:300983 | OMIM ID:300838 +BMGC_DS16402,BMG_DS062614,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 103",UMLS ID:C4310818,,,,,"intellectual disability, X-linked 103",MONDO:0010508,,,non-syndromic X-linked intellectual disability 103,DOID:0112020,,OMIM ID:300980 | OMIM ID:300982 +BMGC_DS16403,BMG_DS062615,IMMUNODEFICIENCY 47,UMLS ID:C4310819,,,,,immunodeficiency 47,MONDO:0010504,,,immunodeficiency 47,DOID:0112002,,OMIM ID:300197 | OMIM ID:300972 +BMGC_DS16404,BMG_DS062616,"BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT",UMLS ID:C4310820,,,,,Bartter disease type 5,MONDO:0010503,,,,,,OMIM ID:300971 | OMIM ID:300470 +BMGC_DS16405,BMG_DS062617,LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY,UMLS ID:C4310822,,,,,myopathy with abnormal lipid metabolism,MONDO:0009703,,,,,,OMIM ID:255100 | OMIM ID:610595 +BMGC_DS16406,BMG_DS062618,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR",UMLS ID:C4310824,,,,,,,,,,,,OMIM ID:610476 +BMGC_DS16407,BMG_DS062619,,UMLS ID:C4310831,,,,,"antisocial behavior, susceptibility to",MONDO:0800413,,,,,, +BMGC_DS16408,BMG_DS062620,,UMLS ID:C4310833,,,,,Dias-Logan syndrome,MONDO:0014914,,,,,,OMIM ID:617101 +BMGC_DS16409,BMG_DS062621,"ALACRIMA, CONGENITAL, AUTOSOMAL DOMINANT",UMLS ID:C4310836,,,,,"alacrima, congenital, autosomal dominant",MONDO:0007075,,,,,,OMIM ID:103420 +BMGC_DS16410,BMG_DS062622,"SANDHOFF DISEASE, CHRONIC",UMLS ID:C4310842,,,,,,,,,,,,OMIM ID:606873 +BMGC_DS16411,BMG_DS062627,DUANE RETRACTION SYNDROME 3,UMLS ID:C4310873,,,,,,,,,,,,OMIM ID:608968 +BMGC_DS16412,BMG_DS062636,"BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF",UMLS ID:C4310892,,,,,,,,,,,,OMIM ID:606869 +BMGC_DS16413,BMG_DS062637,"GM2-GANGLIOSIDOSIS, ADULT-ONSET",UMLS ID:C4310893,,,,,,,,,,,,OMIM ID:606869 +BMGC_DS16414,BMG_DS062647,"ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES",UMLS ID:C4310917,,,,,,,,,,,,OMIM ID:602669 +BMGC_DS16415,BMG_DS062657,GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE,UMLS ID:C4310943,,,,,atypical glycine encephalopathy,MONDO:0015010,,,,,,OMIM ID:601019 | OMIM ID:617301 +BMGC_DS16416,BMG_DS062663,"BETA-THALASSEMIA, ASHKENAZI JEWISH TYPE",UMLS ID:C4310972,,,,,,,,,,,,OMIM ID:141900 +BMGC_DS16417,BMG_DS062664,"BETA-THALASSEMIA INTERMEDIA, DOMINANT",UMLS ID:C4310973,,,,,,,,,,,,OMIM ID:141900 +BMGC_DS16418,BMG_DS062668,"CHROMOSOME 19q13.11 DELETION SYNDROME, PROXIMAL",UMLS ID:C4311046,,,,,"chromosome 19q13.11 deletion syndrome, proximal",MONDO:0014972,,,,,,OMIM ID:617219 +BMGC_DS16419,BMG_DS062669,"CHROMOSOME 11p13 DELETION SYNDROME, DISTAL",UMLS ID:C4311047,,,,,"chromosome 11p13 deletion syndrome, distal",MONDO:0014825,,,,,,OMIM ID:616902 +BMGC_DS16420,BMG_DS062670,"CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL",UMLS ID:C4311048,,,,,"chromosome 19q13.11 deletion syndrome, distal",MONDO:0700107,,,,,,OMIM ID:613026 +BMGC_DS16421,BMG_DS062671,CHROMOSOME Xq25 DUPLICATION SYNDROME,UMLS ID:C4311049,,,,,Xq25 microduplication syndrome,MONDO:0010507,,,,,,OMIM ID:300979 +BMGC_DS16422,BMG_DS062677,Nocturnal frontal lobe epilepsy,UMLS ID:C4313718,,,,,sleep-related hypermotor epilepsy,MONDO:0000030,,,,,,OMIM ID:MTHU056122 +BMGC_DS16423,BMG_DS062701,,UMLS ID:C4315392,,,,,brachydactyly type E,MONDO:0019677,,,,,, +BMGC_DS16424,BMG_DS062793,"Kenny-Caffey syndrome, type 2",UMLS ID:C4316787,,,,,autosomal dominant Kenny-Caffey syndrome,MONDO:0007478,,MeSH ID:C537020,,,,OMIM ID:127000 +BMGC_DS16425,BMG_DS062794,,UMLS ID:C4316789,,,,,partial lipodystrophy,MONDO:0027767,,,,,, +BMGC_DS16426,BMG_DS062796,Entamoeba histolytica Infection,UMLS ID:C4316791,,,,,,,Entamoebiasis,MeSH ID:D004749,,,, +BMGC_DS16427,BMG_DS062799,Writer's Cramp,UMLS ID:C4316810,,,,,,,Dystonic Disorders,MeSH ID:D020821,,,, +BMGC_DS16428,BMG_DS062800,Fibrinogen Deficiency,UMLS ID:C4316812,,,,,,,Afibrinogenemia,MeSH ID:D000347,,,, +BMGC_DS16429,BMG_DS062802,,UMLS ID:C4316870,,,,,eye disorder,MONDO:0005328,,,,,, +BMGC_DS16430,BMG_DS062806,Cystinosis,UMLS ID:C4316899,Cystinosis | Cystine disease | Cystine storage disease | Cystine diathesis | Cystinosis (disorder) | Cystinosis | Cystinosis (disorder) | Lignac-Fanconi syndrome | Cystinosis (disorder) | Cystinosis,SNOMEDCT ID:190681003 | SNOMEDCT ID:111398009 | SNOMEDCT ID:367374009,,,cystinosis,MONDO:0016239,Cystinosis,MeSH ID:D003554,,,ICD10 ID:E72.04, +BMGC_DS16431,BMG_DS062807,Absence Seizures,UMLS ID:C4316903,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS16432,BMG_DS062811,Primary Hypothyroidism,UMLS ID:C4316995,,,,,,,Hypothyroidism,MeSH ID:D007037,,,, +BMGC_DS16433,BMG_DS062812,Diverticular Diseases,UMLS ID:C4317009,,,,,,,Diverticular Diseases,MeSH ID:D000076385,,,, +BMGC_DS16434,BMG_DS062813,Simpson-Golabi-Behmel syndrome,UMLS ID:C4317043,Simpson-Golabi-Behmel syndrome (disorder) | Bulldog syndrome | Simpson-Golabi-Behmel syndrome,SNOMEDCT ID:439143004,,,Simpson-Golabi-Behmel syndrome,MONDO:0010731,,,,,, +BMGC_DS16435,BMG_DS062816,,UMLS ID:C4317107,,,,,thyroid gland disorder,MONDO:0003240,,,,,, +BMGC_DS16436,BMG_DS062817,Epileptic Seizures,UMLS ID:C4317109,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS16437,BMG_DS062819,Polynesian Bronchiectasis,UMLS ID:C4317124,,,,,,,Kartagener Syndrome,MeSH ID:D007619,Kartagener syndrome,DOID:0050144,, +BMGC_DS16438,BMG_DS062820,Niacin deficiency,UMLS ID:C4317126,Niacin deficiency (disorder) | Niacin deficiency | Nicotinamide deficiency | Nicotinic acid deficiency | Vitamin B3 deficiency | Vitamin PP deficiency | Pellagra | Niacin deficiency | Nicotinamide deficiency | Nicotinic acid deficiency | Vitamin PP deficiency | Vitamin B3 deficiency | Pellagra (disorder) | Niacin deficiency | Niacin deficiency (disorder),SNOMEDCT ID:418279001 | SNOMEDCT ID:56550003 | SNOMEDCT ID:238127001,,,,,,,,,, +BMGC_DS16439,BMG_DS062821,"Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",UMLS ID:C4317151,"Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome | Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome | HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome | HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome",SNOMEDCT ID:723363009,,,hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,MONDO:0019073,,,,,,OMIM ID:137940 +BMGC_DS16440,BMG_DS062823,COLE-CARPENTER SYNDROME 1,UMLS ID:C4317154,,,,,Cole-Carpenter syndrome 1,MONDO:0007204,,,,,,OMIM ID:176790 | OMIM ID:112240 +BMGC_DS16441,BMG_DS062824,Adolescent Obesity,UMLS ID:C4317171,,,,,,,Pediatric Obesity,MeSH ID:D063766,,,, +BMGC_DS16442,BMG_DS062826,Congenital disorder of glycosylation type 1q,UMLS ID:C4317224,Congenital disorder of glycosylation type 1q (disorder) | SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation | Congenital disorder of glycosylation type 1q | Congenital disorder of glycosylation type Iq,SNOMEDCT ID:733601006,,,SRD5A3-congenital disorder of glycosylation,MONDO:0012885,,,,,,OMIM ID:612379 +BMGC_DS16443,BMG_DS062827,Congenital disorder of glycosylation type 1s,UMLS ID:C4317295,Congenital disorder of glycosylation type Is | ALG13-CDG (congenital disorder of glycosylation) | Congenital disorder of glycosylation type 1s | Congenital disorder of glycosylation type 1s (disorder),SNOMEDCT ID:733451007,,,"developmental and epileptic encephalopathy, 36",MONDO:0010472,,,,,,OMIM ID:300884 +BMGC_DS16444,BMG_DS062829,Factor V deficiency,UMLS ID:C4317320,Factor V deficiency | Factor V deficiency (disorder),SNOMEDCT ID:4320005,,,factor V deficiency,MONDO:0020586,,,,,,OMIM ID:MTHU023372 +BMGC_DS16445,BMG_DS062830,Juvenile Absence Epilepsy,UMLS ID:C4317339,,,,,juvenile absence epilepsy,MONDO:0800453,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy,DOID:0070309,, +BMGC_DS16446,BMG_DS062831,,UMLS ID:C4318479,,,,,growth hormone insensitivity syndrome,MONDO:0015892,,,,,, +BMGC_DS16447,BMG_DS062840,BARDET-BIEDL SYNDROME 21,UMLS ID:C4319932,,,,,bardet-biedl syndrome 21,MONDO:0044308,,,Bardet-Biedl syndrome 21,DOID:0081010,,OMIM ID:617406 | OMIM ID:614477 +BMGC_DS16448,BMG_DS062841,,UMLS ID:C4321245,,,,,cleft lip,MONDO:0004747,,,,,, +BMGC_DS16449,BMG_DS062857,Hyperandrogenism due to cortisone reductase deficiency,UMLS ID:C4329210,Hyperandrogenism due to cortisone reductase deficiency | Hyperandrogenism due to cortisone reductase deficiency (disorder) | 11-beta-hydroxysteroid dehydrogenase deficiency type 1,SNOMEDCT ID:783696009,,,,,,,,,, +BMGC_DS16450,BMG_DS062860,,UMLS ID:C4329266,,,,,,,,,acute myeloid leukemia with CBFA2T3-GLIS2 fusion,DOID:0070629,, +BMGC_DS16451,BMG_DS062864,Autosomal recessive infantile hypercalcemia,UMLS ID:C4329374,Autosomal recessive infantile hypercalcemia (disorder) | Autosomal recessive infantile hypercalcaemia | Familial infantile hypercalcaemia with suppressed intact parathyroid hormone | Autosomal recessive infantile hypercalcemia | Familial infantile hypercalcemia with suppressed intact parathyroid hormone,SNOMEDCT ID:771445001,,,"hypercalcemia, infantile",MONDO:0000212,,,,,, +BMGC_DS16452,BMG_DS062871,,UMLS ID:C4329780,,,,,early T cell progenitor acute lymphoblastic leukemia,MONDO:0100291,,,,,, +BMGC_DS16453,BMG_DS062883,,UMLS ID:C4331262,,,,,rosette-forming glioneuronal tumor of fourth ventricule,MONDO:0016736,,,,,, +BMGC_DS16454,BMG_DS062888,,UMLS ID:C4476553,,,,,atrial septal aneurysm,MONDO:0020438,,,,,, +BMGC_DS16455,BMG_DS062893,"CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED",UMLS ID:C4478372,,,,,"ciliary dyskinesia, primary, 36, X-linked",MONDO:0010517,,,primary ciliary dyskinesia 36,DOID:0111850,,OMIM ID:300933 | OMIM ID:300991 +BMGC_DS16456,BMG_DS062894,,UMLS ID:C4478379,,,,,"intellectual disability, X-linked 106",MONDO:0030907,,,,,,OMIM ID:300997 +BMGC_DS16457,BMG_DS062895,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35",UMLS ID:C4478383,,,,,"intellectual disability, X-linked, syndromic, 35",MONDO:0030908,,,syndromic X-linked mental retardation 35,DOID:0080241,,OMIM ID:300998 | OMIM ID:312173 +BMGC_DS16458,BMG_DS062901,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1,UMLS ID:C4478716,,,,,Noonan syndrome-like disorder with loose anagen hair 1,MONDO:0054637,,,Noonan syndrome-like disorder with loose anagen hair 1,DOID:0080692,,OMIM ID:607721 | OMIM ID:602775 +BMGC_DS16459,BMG_DS062903,,UMLS ID:C4478940,,,,,brain malformations with or without urinary tract defects,MONDO:0100478,,,,,,OMIM ID:613735 +BMGC_DS16460,BMG_DS062904,"MYASTHENIC SYNDROME, CONGENITAL, 22",UMLS ID:C4479088,,,,,"myasthenic syndrome, congenital, 22",MONDO:0044299,,,congenital myasthenic syndrome 22,DOID:0080587,,OMIM ID:616224 | OMIM ID:609557 +BMGC_DS16461,BMG_DS062906,CONGENITAL MYOPATHY 24,UMLS ID:C4479186,,,,,MYPN-related myopathy,MONDO:0015023,,,nemaline myopathy 11,DOID:0110933,,OMIM ID:608517 | OMIM ID:617336 +BMGC_DS16462,BMG_DS062907,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51,UMLS ID:C4479208,,,,,"developmental and epileptic encephalopathy, 51",MONDO:0015025,,,developmental and epileptic encephalopathy 51,DOID:0080433,,OMIM ID:154100 | OMIM ID:617339 +BMGC_DS16463,BMG_DS062908,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2,UMLS ID:C4479220,,,,,cerebroretinal microangiopathy with calcifications and cysts 2,MONDO:0015026,,,,,,OMIM ID:617341 | OMIM ID:613128 +BMGC_DS16464,BMG_DS062909,HYPERPARATHYROIDISM 4,UMLS ID:C4479229,,,,,hyperparathyroidism 4,MONDO:0024570,,,,,,OMIM ID:617343 | OMIM ID:603716 +BMGC_DS16465,BMG_DS062910,,UMLS ID:C4479235,,,,,"aortic aneurysm, familial thoracic 11, susceptibility to",MONDO:0044301,,,,,,OMIM ID:617349 +BMGC_DS16466,BMG_DS062911,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52,UMLS ID:C4479236,,,,,"developmental and epileptic encephalopathy, 52",MONDO:0033361,,,developmental and epileptic encephalopathy 52,DOID:0080455,,OMIM ID:617350 | OMIM ID:600235 +BMGC_DS16467,BMG_DS062912,"CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",UMLS ID:C4479246,,,,,"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",MONDO:0044302,,,"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",DOID:0112247,,OMIM ID:617360 | OMIM ID:603309 +BMGC_DS16468,BMG_DS062913,CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA,UMLS ID:C4479250,,,,,congenital heart defects and ectodermal dysplasia,MONDO:0044303,,,,,,OMIM ID:605435 | OMIM ID:617364 +BMGC_DS16469,BMG_DS062914,PEROXISOME BIOGENESIS DISORDER 10B,UMLS ID:C4479254,,,,,peroxisome biogenesis disorder 10B,MONDO:0054549,,,Peroxisome biogenesis disorder 10B,DOID:0081440,,OMIM ID:617370 | OMIM ID:603164 +BMGC_DS16470,BMG_DS062915,"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",UMLS ID:C4479260,,,,,"avascular necrosis of femoral head, primary, 2",MONDO:0054551,,,,,,OMIM ID:617383 | OMIM ID:605427 +BMGC_DS16471,BMG_DS062916,"HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT",UMLS ID:C4479270,,,,,hyperphenylalaninemia due to DNAJC12 deficiency,MONDO:0044304,,,,,,OMIM ID:617384 | OMIM ID:606060 +BMGC_DS16472,BMG_DS062917,AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS,UMLS ID:C4479278,,,,,autoinflammation with arthritis and dyskeratosis,MONDO:0060457,,,,,,OMIM ID:617388 | OMIM ID:606636 +BMGC_DS16473,BMG_DS062918,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53,UMLS ID:C4479313,,,,,"developmental and epileptic encephalopathy, 53",MONDO:0033362,,,developmental and epileptic encephalopathy 53,DOID:0080464,,OMIM ID:604297 | OMIM ID:617389 +BMGC_DS16474,BMG_DS062919,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54,UMLS ID:C4479319,,,,,"developmental and epileptic encephalopathy, 54",MONDO:0033363,,,developmental and epileptic encephalopathy 54,DOID:0080418,,OMIM ID:602869 | OMIM ID:617391 +BMGC_DS16475,BMG_DS062920,"ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE",UMLS ID:C4479322,,,,,"ectodermal dysplasia 13, hair/tooth type",MONDO:0044305,,,ectodermal dysplasia 13,DOID:0111650,,OMIM ID:609898 | OMIM ID:617392 +BMGC_DS16476,BMG_DS062921,"NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION",UMLS ID:C4479333,,,,,"neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination",MONDO:0044306,,,,,,OMIM ID:617393 | OMIM ID:610672 +BMGC_DS16477,BMG_DS062922,"SCLEROSING CHOLANGITIS, NEONATAL",UMLS ID:C4479344,,,,,isolated neonatal sclerosing cholangitis,MONDO:0018816,,,,,,OMIM ID:605755 | OMIM ID:617394 +BMGC_DS16478,BMG_DS062923,COG2-related congenital disorder of glycosylation,UMLS ID:C4479353,COG2-related congenital disorder of glycosylation | COG2-CDG - component of oligomeric golgi complex 2 - congenital disorder of glycosylation | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation (disorder) | Component of oligomeric golgi complex 2-related congenital disorder of glycosylation,SNOMEDCT ID:1197753005,,,"congenital disorder of glycosylation, type IIq",MONDO:0054559,,,,,,OMIM ID:617395 +BMGC_DS16479,BMG_DS062924,ANAUXETIC DYSPLASIA 2,UMLS ID:C4479357,,,,,anauxetic dysplasia 2,MONDO:0054561,,,anauxetic dysplasia 2,DOID:0080962,,OMIM ID:617396 | OMIM ID:602486 +BMGC_DS16480,BMG_DS062925,PSEUDO-TORCH SYNDROME 2,UMLS ID:C4479376,,,,,pseudo-TORCH syndrome 2,MONDO:0018828,,,,,,OMIM ID:617397 | OMIM ID:607057 +BMGC_DS16481,BMG_DS062926,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC",UMLS ID:C4479387,,,,,autosomal recessive cutis laxa type 2C,MONDO:0027462,,,,,,OMIM ID:108746 | OMIM ID:617402 +BMGC_DS16482,BMG_DS062927,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID",UMLS ID:C4479409,,,,,autosomal recessive cutis laxa type 2D,MONDO:0027451,,,,,,OMIM ID:617403 | OMIM ID:607027 +BMGC_DS16483,BMG_DS062928,"MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY",UMLS ID:C4479410,,,,,congenital muscular dystrophy with cataracts and intellectual disability,MONDO:0024607,,,congenital muscular dystrophy with cataracts and intellectual disability,DOID:0080197,,OMIM ID:617404 | OMIM ID:607875 +BMGC_DS16484,BMG_DS062929,SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C4479416,,,,,short-rib thoracic dysplasia 17 with or without polydactyly,MONDO:0054565,,,,,,OMIM ID:617405 +BMGC_DS16485,BMG_DS062930,DIAMOND-BLACKFAN ANEMIA 16,UMLS ID:C4479424,,,,,Diamond-Blackfan anemia 16,MONDO:0044309,,,Diamond-Blackfan anemia 16,DOID:0111893,,OMIM ID:607526 | OMIM ID:617408 +BMGC_DS16486,BMG_DS062931,DIAMOND-BLACKFAN ANEMIA 17,UMLS ID:C4479428,,,,,Diamond-Blackfan anemia 17,MONDO:0044310,,,Diamond-Blackfan anemia 17,DOID:0111880,,OMIM ID:617409 | OMIM ID:603702 +BMGC_DS16487,BMG_DS062932,"BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY",UMLS ID:C4479431,,,,,"brachycephaly, trichomegaly, and developmental delay",MONDO:0044311,,,"brachycephaly, trichomegaly, and developmental delay",DOID:0070415,,OMIM ID:617412 | OMIM ID:603683 +BMGC_DS16488,BMG_DS062933,IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES,UMLS ID:C4479452,,,,,immunoskeletal dysplasia with neurodevelopmental abnormalities,MONDO:0044312,,,,,,OMIM ID:605744 | OMIM ID:617425 +BMGC_DS16489,BMG_DS062935,,UMLS ID:C4479476,,,,,"intellectual disability, autosomal recessive 60",MONDO:0044313,,,,,,OMIM ID:617432 +BMGC_DS16490,BMG_DS062936,RETINITIS PIGMENTOSA 78,UMLS ID:C4479481,,,,,retinitis pigmentosa 78,MONDO:0044314,,,,,,OMIM ID:616432 | OMIM ID:617433 +BMGC_DS16491,BMG_DS062937,LOPES-MACIEL-RODAN SYNDROME,UMLS ID:C4479491,,,,,Lopes-Maciel-Rodan syndrome,MONDO:0054573,,,,,,OMIM ID:613004 | OMIM ID:617435 +BMGC_DS16492,BMG_DS062938,CRANIOSYNOSTOSIS 7,UMLS ID:C4479496,,,,,craniosynostosis 7,MONDO:0044315,,,craniosynostosis 7,DOID:0060912,,OMIM ID:617439 +BMGC_DS16493,BMG_DS062939,"THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS",UMLS ID:C4479504,,,,,"thrombocytopenia, anemia, and myelofibrosis",MONDO:0044316,,,,,,OMIM ID:617441 | OMIM ID:606520 +BMGC_DS16494,BMG_DS062940,PREMATURE OVARIAN FAILURE 13,UMLS ID:C4479510,,,,,premature ovarian failure 13,MONDO:0044317,,,primary ovarian insufficiency 13,DOID:0080870,,OMIM ID:617442 | OMIM ID:603382 +BMGC_DS16495,BMG_DS062941,"BLEEDING DISORDER, PLATELET-TYPE, 21",UMLS ID:C4479515,,,,,"bleeding disorder, platelet-type, 21",MONDO:0054577,,,,,,OMIM ID:617443 | OMIM ID:193067 +BMGC_DS16496,BMG_DS062942,JANSEN-DE VRIES SYNDROME,UMLS ID:C4479517,,,,,intellectual developmental disorder with gastrointestinal difficulties and high pain threshold,MONDO:0044318,,,,,,OMIM ID:617450 | OMIM ID:605100 +BMGC_DS16497,BMG_DS062943,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES",UMLS ID:C4479520,,,,,"intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies",MONDO:0044319,,,,,,OMIM ID:612021 | OMIM ID:617452 +BMGC_DS16498,BMG_DS062944,RETINITIS PIGMENTOSA 79,UMLS ID:C4479526,,,,,retinitis pigmentosa 79,MONDO:0044320,,,,,,OMIM ID:142600 | OMIM ID:617460 +BMGC_DS16499,BMG_DS062945,TOWNES-BROCKS SYNDROME 2,UMLS ID:C4479534,,,,,Townes-Brocks syndrome 2,MONDO:0054582,,,,,,OMIM ID:607861 | OMIM ID:617466 +BMGC_DS16500,BMG_DS062946,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT",UMLS ID:C4479539,,,,,"arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",MONDO:0060486,,,arthrogryposis multiplex congenita-1,DOID:0080978,,OMIM ID:608303 | OMIM ID:617468 +BMGC_DS16501,BMG_DS062947,SPECIFIC GRANULE DEFICIENCY 2,UMLS ID:C4479548,,,,,specific granule deficiency 2,MONDO:0044208,,,,,,OMIM ID:617475 | OMIM ID:601736 +BMGC_DS16502,BMG_DS062948,STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME,UMLS ID:C4479549,,,,,structural heart defects and renal anomalies syndrome,MONDO:0044321,,,,,,OMIM ID:617478 | OMIM ID:617449 +BMGC_DS16503,BMG_DS062949,,UMLS ID:C4479552,,,,,"46,XX sex reversal 4",MONDO:0060489,,,,,,OMIM ID:617480 +BMGC_DS16504,BMG_DS062950,PRUNE1-related neurological syndrome,UMLS ID:C4479566,Prune exopolyphosphatase 1-related neurological syndrome (disorder) | PRUNE1-related neurological syndrome | Prune exopolyphosphatase 1-related neurological syndrome,SNOMEDCT ID:1222657001,,,"neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies",MONDO:0060490,,,,,,OMIM ID:617481 +BMGC_DS16505,BMG_DS062951,NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS,UMLS ID:C4479569,,,,,neurodevelopmental disorder with involuntary movements,MONDO:0060491,,,neurodevelopmental disorder with involuntary movements,DOID:0112276,,OMIM ID:617493 | OMIM ID:139311 +BMGC_DS16506,BMG_DS062952,NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2,UMLS ID:C4479577,,,,,Noonan syndrome-like disorder with loose anagen hair 2,MONDO:0054588,,,Noonan syndrome-like disorder with loose anagen hair 2,DOID:0080693,,OMIM ID:617506 | OMIM ID:600590 +BMGC_DS16507,BMG_DS062953,IMMUNODEFICIENCY 52,UMLS ID:C4479588,,,,,severe combined immunodeficiency due to LAT deficiency,MONDO:0044721,,,immunodeficiency 52,DOID:0111983,,OMIM ID:617514 | OMIM ID:602354 +BMGC_DS16508,BMG_DS062955,STANKIEWICZ-ISIDOR SYNDROME,UMLS ID:C4479599,,,,,Stankiewicz-Isidor syndrome,MONDO:0054591,,,,,,OMIM ID:617516 | OMIM ID:604450 +BMGC_DS16509,BMG_DS062956,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS",UMLS ID:C4479603,,,,,"neurodevelopmental disorder with hypotonia, neuropathy, and deafness",MONDO:0060496,,,,,,OMIM ID:606214 | OMIM ID:617519 +BMGC_DS16510,BMG_DS062957,"MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT",UMLS ID:C4479608,,,,,"microcephaly 18, primary, autosomal dominant",MONDO:0054593,,,primary autosomal dominant microcephaly 18,DOID:0070295,,OMIM ID:617485 | OMIM ID:617520 +BMGC_DS16511,BMG_DS062958,NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS,UMLS ID:C4479613,,,,,neurodevelopmental disorder with midbrain and hindbrain malformations,MONDO:0056797,,,neurodevelopmental disorder with midbrain and hindbrain malformations,DOID:0080312,,OMIM ID:607560 | OMIM ID:617523 +BMGC_DS16512,BMG_DS062959,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2,UMLS ID:C4479618,,,,,erythrokeratodermia variabilis et progressiva 2,MONDO:0033012,,,erythrokeratodermia variabilis et progressiva 2,DOID:0080248,,OMIM ID:605425 | OMIM ID:617524 +BMGC_DS16513,BMG_DS062960,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3,UMLS ID:C4479619,,,,,erythrokeratodermia variabilis et progressiva 3,MONDO:0033013,,,erythrokeratodermia variabilis et progressiva 3,DOID:0080249,,OMIM ID:121014 | OMIM ID:617525 +BMGC_DS16514,BMG_DS062961,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4,UMLS ID:C4479620,,,,,erythrokeratodermia variabilis et progressiva 4,MONDO:0033014,,,erythrokeratodermia variabilis et progressiva 4,DOID:0080250,,OMIM ID:617526 | OMIM ID:136440 +BMGC_DS16515,BMG_DS062962,PLAA-associated neurodevelopmental disorder,UMLS ID:C4479631,Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) | Phospholipase A2 activating protein-associated neurodevelopmental disorder | PLAA-associated neurodevelopmental disorder | PLAAND - phospholipase A2 activating protein-associated neurodevelopmental disorder,SNOMEDCT ID:1217367007,,,"neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies",MONDO:0060502,,,,,,OMIM ID:617527 +BMGC_DS16516,BMG_DS062963,INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES,UMLS ID:C4479636,,,,,intellectual developmental disorder with neuropsychiatric features,MONDO:0044322,,,,,,OMIM ID:617532 | OMIM ID:605763 +BMGC_DS16517,BMG_DS062964,"Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation",UMLS ID:C4479637,"Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation | H1-4-related neurodevelopmental disorder | Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation | Rahman syndrome",SNOMEDCT ID:1304277005,,,Rahman syndrome,MONDO:0044323,,,,,,OMIM ID:617537 +BMGC_DS16518,BMG_DS062965,"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C4479640,,,,,"gaze palsy, familial horizontal, with progressive scoliosis, 2",MONDO:0054602,,,,,,OMIM ID:617542 | OMIM ID:120470 +BMGC_DS16519,BMG_DS062967,RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA,UMLS ID:C4479651,,,,,retinal dystrophy with or without macular staphyloma,MONDO:0060507,,,,,,OMIM ID:617547 +BMGC_DS16520,BMG_DS062968,Gabriele-de Vries syndrome,UMLS ID:C4479652,YY1 haploinsufficiency syndrome | Gabriele-de Vries syndrome | Gabriele-de Vries syndrome (disorder),SNOMEDCT ID:1186730002,,,Gabriele de Vries syndrome,MONDO:0044738,,,,,,OMIM ID:617557 +BMGC_DS16521,BMG_DS062969,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,UMLS ID:C4479653,"NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) | NK6 homeobox 2-related autosomal recessive hypomyelinating leucodystrophy | NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy | NKX6-2-related autosomal recessive hypomyelinating leucodystrophy | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | Autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia | SPAX8 - spastic ataxia 8 | Autosomal recessive hypomyelinating leucodystrophy, progressive spastic ataxia",SNOMEDCT ID:1217379007,,,"spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",MONDO:0033043,,,,,,OMIM ID:617560 +BMGC_DS16522,BMG_DS062970,COHEN-GIBSON SYNDROME,UMLS ID:C4479654,,,,,Cohen-Gibson syndrome,MONDO:0060510,,,,,,OMIM ID:617561 | OMIM ID:605984 +BMGC_DS16523,BMG_DS062971,MEIER-GORLIN SYNDROME 8,UMLS ID:C4479655,,,,,Meier-Gorlin syndrome 8,MONDO:0033046,,,Meier-Gorlin syndrome 8,DOID:0080255,,OMIM ID:602696 | OMIM ID:617564 +BMGC_DS16524,BMG_DS062972,PERRAULT SYNDROME 6,UMLS ID:C4479656,,,,,Perrault syndrome 6,MONDO:0033047,,,Perrault syndrome 6,DOID:0080256,,OMIM ID:607435 | OMIM ID:617565 +BMGC_DS16525,BMG_DS062975,"HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2",UMLS ID:C4479659,,,,,,,,,,,,OMIM ID:107741 +BMGC_DS16526,BMG_DS062976,"ADRENAL INSUFFICIENCY, NR5A1-RELATED",UMLS ID:C4479664,,,,,,,,,primary ovarian insufficiency 7,DOID:0080864,,OMIM ID:612964 | OMIM ID:184757 +BMGC_DS16527,BMG_DS063000,Epileptic Syndromes,UMLS ID:C4505072,,,,,epilepsy syndrome,MONDO:0015650,Epileptic Syndromes,MeSH ID:D000073376,,,, +BMGC_DS16528,BMG_DS063011,Xp21 Contiguous Gene Deletion Syndrome,UMLS ID:C4505291,,,,,chromosome Xp21 deletion syndrome,MONDO:0010399,"Hypoadrenocorticism, Familial",MeSH ID:D000075262,,,,OMIM ID:300679 +BMGC_DS16529,BMG_DS063016,Diverticular Bleeding,UMLS ID:C4505353,,,,,,,Diverticular Diseases,MeSH ID:D000076385,,,, +BMGC_DS16530,BMG_DS063019,Mycoplasma ovipneumoniae Infection,UMLS ID:C4505422,,,,,,,"Pneumonia, Mycoplasma",MeSH ID:D011019,Mycoplasma pneumoniae pneumonia,DOID:13276,, +BMGC_DS16531,BMG_DS063020,Mycoplasma dispar Infection,UMLS ID:C4505423,,,,,,,"Pneumonia, Mycoplasma",MeSH ID:D011019,Mycoplasma pneumoniae pneumonia,DOID:13276,, +BMGC_DS16532,BMG_DS063025,Generalized Absence Seizures,UMLS ID:C4505436,,,,,,,Seizures,MeSH ID:D012640,,,, +BMGC_DS16533,BMG_DS063026,Trichophyton mentagrophytes Infection,UMLS ID:C4505442,,,,,,,Tinea,MeSH ID:D014005,,,, +BMGC_DS16534,BMG_DS063027,HIV Coinfection,UMLS ID:C4505456,,,,,,,HIV Infections,MeSH ID:D015658,,,, +BMGC_DS16535,BMG_DS063036,"Chemical and Drug Induced Liver Injury, Chronic",UMLS ID:C4505492,,,,,,,"Chemical and Drug Induced Liver Injury, Chronic",MeSH ID:D056487,,,, +BMGC_DS16536,BMG_DS063037,"Chemical-Induced Liver Injury, Chronic",UMLS ID:C4505493,,,,,,,"Chemical and Drug Induced Liver Injury, Chronic",MeSH ID:D056487,,,, +BMGC_DS16537,BMG_DS063041,,UMLS ID:C4509020,,,,,isolated bone marrow mastocytosis,MONDO:0015558,,,,,, +BMGC_DS16538,BMG_DS063044,Senile systemic amyloidosis (SSA),UMLS ID:C4509024,,,,,,,,,transthyretin amyloidosis,DOID:0050638,ICD10 ID:E85.82, +BMGC_DS16539,BMG_DS063137,Celiac gluten-sensitive enteropathy,UMLS ID:C4509268,,,Coeliac disease,ICD11 ID:DA95,,,,,,,ICD10 ID:K90.0, +BMGC_DS16540,BMG_DS063276,,UMLS ID:C4509816,,,,,non-small cell squamous lung carcinoma,MONDO:0056806,,,,,, +BMGC_DS16541,BMG_DS063279,Endocrine-cerebro-osteodysplasia syndrome,UMLS ID:C4509819,Endocrine-cerebro-osteodysplasia syndrome (disorder) | Endocrine-cerebro-osteodysplasia syndrome | ECO syndrome | ECO (endocrine-cerebro-osteodysplasia) syndrome | Endocrine cerebroosteodysplasia syndrome,SNOMEDCT ID:723309006,,,,,,,,,, +BMGC_DS16542,BMG_DS063280,FADD-related immunodeficiency,UMLS ID:C4509831,FADD-related immunodeficiency | Immunodeficiency due to mutation of FAS-associated protein with death domain gene (disorder) | Immunodeficiency due to mutation of FAS-associated protein with death domain gene | FADD (FAS-associated protein with death domain) related immunodeficiency,SNOMEDCT ID:723334006,,,,,,,,,, +BMGC_DS16543,BMG_DS063281,Familial acute necrotizing encephalopathy,UMLS ID:C4509836,Familial acute necrotizing encephalopathy (disorder) | Familial acute necrotizing encephalopathy | Familial acute necrotising encephalopathy | Recurrent acute necrotizing encephalopathy | Recurrent acute necrotising encephalopathy,SNOMEDCT ID:723359002,,,,,,,,,, +BMGC_DS16544,BMG_DS063285,Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency,UMLS ID:C4509853,Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency | Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency | Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency,SNOMEDCT ID:723384004,,,,,,,,,, +BMGC_DS16545,BMG_DS063286,Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency,UMLS ID:C4509854,Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency | Mendelian susceptibility to mycobacterial disease due to partial IRF8 (interferon regulatory factor 8) deficiency | Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency,SNOMEDCT ID:723385003,,,,,,,,,, +BMGC_DS16546,BMG_DS063287,Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency,UMLS ID:C4509855,Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) | Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency | Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency | Mendelian susceptibility to mycobacterial disease due to partial STAT1 (signal transducer and activator of transcription 1) deficiency,SNOMEDCT ID:723386002,,,,,,,,,, +BMGC_DS16547,BMG_DS063292,Microcephalic osteodysplastic dysplasia Saul Wilson type,UMLS ID:C4509877,Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | Microcephalic osteodysplastic dysplasia Saul Wilson type,SNOMEDCT ID:723404002,,,,,,,,,, +BMGC_DS16548,BMG_DS063295,Muscular dystrophy Selcen type,UMLS ID:C4509880,Muscular dystrophy Selcen type (disorder) | Muscular dystrophy Selcen type | Selcen muscular dystrophy,SNOMEDCT ID:723407009,,,,,,,,,, +BMGC_DS16549,BMG_DS063296,Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus,UMLS ID:C4509881,Multifocal pattern dystrophy simulating Stargardt disease | Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) | Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus | Multifocal pattern dystrophy simulating fundus flavimaculatus,SNOMEDCT ID:723408004,,,multifocal pattern dystrophy simulating fundus flavimaculatus,MONDO:0020382,,,,,, +BMGC_DS16550,BMG_DS063308,Non-progressive cerebellar ataxia with intellectual disability,UMLS ID:C4509917,Non-progressive cerebellar ataxia with intellectual disability (disorder) | Non-progressive cerebellar ataxia with intellectual disability,SNOMEDCT ID:723441001,,,,,,,,,, +BMGC_DS16551,BMG_DS063309,Polyvalvular heart disease syndrome,UMLS ID:C4509918,Polyvalvular heart disease syndrome (disorder) | Polyvalvular heart disease syndrome,SNOMEDCT ID:723448007,,,polyvalvular heart disease syndrome,MONDO:0016460,,,,,, +BMGC_DS16552,BMG_DS063311,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome",UMLS ID:C4509920,"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome | PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract) syndrome | PHARC syndrome | Peripheral neuropathy Fiskerstrand type",SNOMEDCT ID:723452007,,,,,,,,,, +BMGC_DS16553,BMG_DS063315,,UMLS ID:C4509932,,,,,NK-cell enteropathy,MONDO:0016996,,,,,, +BMGC_DS16554,BMG_DS063316,Peripheral neuropathy with sensorineural hearing impairment syndrome,UMLS ID:C4509933,Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) | Peripheral neuropathy with sensorineural hearing impairment syndrome | Neuropathy with hearing impairment,SNOMEDCT ID:723497003,,,neuropathy with hearing impairment,MONDO:0015351,,,,,, +BMGC_DS16555,BMG_DS063321,Terminal osseous dysplasia and pigmentary defect syndrome,UMLS ID:C4509953,Terminal osseous dysplasia and pigmentary defect syndrome (disorder) | Terminal osseous dysplasia and pigmentary defect syndrome,SNOMEDCT ID:723578001,,,,,,,,,, +BMGC_DS16556,BMG_DS063335,Severe generalized recessive dystrophic epidermolysis bullosa,UMLS ID:C4510043,Severe generalized recessive dystrophic epidermolysis bullosa (disorder) | Severe generalized recessive dystrophic epidermolysis bullosa | Severe generalised recessive dystrophic epidermolysis bullosa | Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis | Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type,SNOMEDCT ID:723716009,,,,,,,,,, +BMGC_DS16557,BMG_DS063358,Idiopathic ventricular fibrillation not Brugada type,UMLS ID:C4510132,Idiopathic ventricular fibrillation not Brugada type (disorder) | Idiopathic ventricular fibrillation not Brugada type,SNOMEDCT ID:723866006,,,,,,,,,, +BMGC_DS16558,BMG_DS063368,Sensorineural deafness with dilated cardiomyopathy syndrome,UMLS ID:C4510220,Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) | Sensorineural deafness with dilated cardiomyopathy syndrome,SNOMEDCT ID:723993005,,,,,,,,,, +BMGC_DS16559,BMG_DS063389,"Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome",UMLS ID:C4510367,"Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) | Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome",SNOMEDCT ID:724094005,,,,,,,,,, +BMGC_DS16560,BMG_DS063390,Myopathy due to calsequestrin and SERCA1 protein overload,UMLS ID:C4510368,Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) | Myopathy due to calsequestrin and SERCA1 protein overload | Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload | Myopathy due to calsequestrin and SERCA1 (sarcoplasmic/endoplasmic reticulum calcium ATPase 1) protein overload,SNOMEDCT ID:724095006,,,,,,,,,, +BMGC_DS16561,BMG_DS063393,Microcephalic primordial dwarfism due to ZNF335 deficiency,UMLS ID:C4510378,Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Microcephalic primordial dwarfism due to ZNF335 deficiency | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency | Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency | Microcephalic primordial dwarfism Walsh type,SNOMEDCT ID:724141003,,,,,,,,,, +BMGC_DS16562,BMG_DS063395,"Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome",UMLS ID:C4510380,"Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) | Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome",SNOMEDCT ID:724145007,,,,,,,,,, +BMGC_DS16563,BMG_DS063396,McLeod neuroacanthocytosis syndrome,UMLS ID:C4510408,McLeod neuroacanthocytosis syndrome (disorder) | McLeod neuroacanthocytosis syndrome | X-linked McLeod syndrome,SNOMEDCT ID:724172004,,,,,,,,,, +BMGC_DS16564,BMG_DS063398,Laron syndrome with immunodeficiency,UMLS ID:C4510411,Laron syndrome with immunodeficiency (disorder) | Laron syndrome with immunodeficiency | Laron-like syndrome | Short stature due to STAT5b (signal transducer and activator of transcription 5b) deficiency,SNOMEDCT ID:724179008,,,,,,,,,, +BMGC_DS16565,BMG_DS063422,Congenital ichthyosis with hypotrichosis syndrome,UMLS ID:C4510566,"Congenital ichthyosis with hypotrichosis syndrome (disorder) | Congenital ichthyosis with hypotrichosis syndrome | Ichthyosis, follicular atrophoderma, hypotrichosis syndrome",SNOMEDCT ID:724277002,,,,,,,,,, +BMGC_DS16566,BMG_DS063423,"Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome",UMLS ID:C4510568,"Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) | Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome | Bosma Henkin Christiansen syndrome",SNOMEDCT ID:724281002,,,hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,MONDO:0016393,,,,,, +BMGC_DS16567,BMG_DS063428,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,UMLS ID:C4510605,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) | Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,SNOMEDCT ID:724344004,,,,,,,,,, +BMGC_DS16568,BMG_DS063429,"Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome",UMLS ID:C4510610,"Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome | Hereditary inclusion body myopathy type 3 | Inclusion body myopathy type 3",SNOMEDCT ID:724349009,,,hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,MONDO:0019195,,,,,, +BMGC_DS16569,BMG_DS063432,Hereditary combined deficiency of vitamin K-dependent clotting factors,UMLS ID:C4510617,"Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) | Hereditary combined deficiency of vitamin K-dependent clotting factors | Hereditary combined deficiency of factors II, VII, IX and X",SNOMEDCT ID:724356003,,,congenital vitamin K-dependent coagulation factors deficiency,MONDO:0015722,,,hereditary combined deficiency of vitamin K-dependent clotting factors,DOID:0112172,, +BMGC_DS16570,BMG_DS063433,Hepatic veno-occlusive disease with immunodeficiency syndrome,UMLS ID:C4510630,"Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) | Hepatic veno-occlusive disease with immunodeficiency syndrome | VODI (veno-occlusive disease, immunodeficiency) syndrome | VODI syndrome",SNOMEDCT ID:724361001,,,,,,,,,, +BMGC_DS16571,BMG_DS063442,Pneumonia caused by Chlamydia pneumoniae,UMLS ID:C4510691,Pneumonia caused by Chlamydia pneumoniae (disorder) | Pneumonia caused by Chlamydia pneumoniae,SNOMEDCT ID:724498004,,,,,,,,,, +BMGC_DS16572,BMG_DS063456,Frontonasal dysplasia with alopecia and genital anomaly syndrome,UMLS ID:C4510728,Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) | Frontonasal dysplasia with alopecia and genital anomaly syndrome | Craniofrontonasal dysplasia with alopecia and hypogonadism | Frontonasal dysplasia with alopecia and genital abnomality | ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly,SNOMEDCT ID:725029001,,,,,,,,,, +BMGC_DS16573,BMG_DS063461,"46,XY partial gonadal dysgenesis",UMLS ID:C4510744,"46,XY partial gonadal dysgenesis (disorder) | 46,XY partial gonadal dysgenesis",SNOMEDCT ID:725045004,,,"46,XY partial gonadal dysgenesis",MONDO:0016674,,,,,, +BMGC_DS16574,BMG_DS063463,Muscle and heart glycogen synthase deficiency,UMLS ID:C4510752,Muscle and heart glycogen synthase deficiency (disorder) | Muscle and heart glycogen synthase deficiency | Glycogen storage disease due to muscle and heart glycogen synthase deficiency | Glycogen storage disease type 0b | Glycogenosis due to muscle and heart glycogen synthase deficiency | Glycogenosis type 0b,SNOMEDCT ID:725027004,,,,,,,,,, +BMGC_DS16575,BMG_DS063464,Hepatic glycogen synthase deficiency,UMLS ID:C4510753,Hepatic glycogen synthase deficiency (disorder) | Hepatic glycogen synthase deficiency | Glycogen storage disease due to hepatic glycogen synthase deficiency | Glycogen storage disease due to liver glycogen synthase deficiency | Glycogen storage disease type 0a | Glycogenosis type 0a,SNOMEDCT ID:725026008,,,,,,,,,, +BMGC_DS16576,BMG_DS063467,Infantile osteopetrosis with neuroaxonal dysplasia syndrome,UMLS ID:C4510764,Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | Infantile osteopetrosis with neuroaxonal dysplasia syndrome | Infantile osteopetrosis with neuroaxonal dysplasia,SNOMEDCT ID:724226009,,,,,,,,,, +BMGC_DS16577,BMG_DS063484,Craniometadiaphyseal dysplasia wormian bone type,UMLS ID:C4510809,Craniometadiaphyseal dysplasia wormian bone type (disorder) | Craniometadiaphyseal dysplasia wormian bone type,SNOMEDCT ID:725099009,,,"craniometadiaphyseal dysplasia, wormian bone type",MONDO:0010014,,,,,,OMIM ID:269300 +BMGC_DS16578,BMG_DS063486,Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency,UMLS ID:C4510815,Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) | Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency | Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I,SNOMEDCT ID:725105006,,,,,,,,,, +BMGC_DS16579,BMG_DS063516,Combined immunodeficiency due to CD3gamma deficiency,UMLS ID:C4510864,Combined immunodeficiency due to CD3gamma deficiency (disorder) | Combined immunodeficiency due to CD3gamma deficiency | Combined immunodeficiency due to CD3-gamma deficiency,SNOMEDCT ID:725135004,,,,,,,,,, +BMGC_DS16580,BMG_DS063518,"Atrial septal defect, atrioventricular conduction defect syndrome",UMLS ID:C4510872,"Atrial septal defect, atrioventricular conduction defect syndrome (disorder) | Atrial septal defect, atrioventricular conduction defect syndrome",SNOMEDCT ID:725145002,,,,,,,,,, +BMGC_DS16581,BMG_DS063519,Atypical juvenile parkinsonism,UMLS ID:C4510873,Atypical juvenile parkinsonism (disorder) | Atypical juvenile parkinsonism,SNOMEDCT ID:725146001,,,atypical juvenile parkinsonism,MONDO:0018321,,,,,, +BMGC_DS16582,BMG_DS063521,Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency,UMLS ID:C4510875,Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency,SNOMEDCT ID:725151007,,,autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,MONDO:0017903,,,,,, +BMGC_DS16583,BMG_DS063523,Omodysplasia,UMLS ID:C4510897,Omodysplasia (disorder) | Omodysplasia,SNOMEDCT ID:725164008,,,omodysplasia,MONDO:0017136,,,omodysplasia,DOID:0060288,, +BMGC_DS16584,BMG_DS063527,3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency,UMLS ID:C4510940,Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) | 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase | HMG-coenzyme A synthase deficiency,SNOMEDCT ID:725286002,,,,,,,,,, +BMGC_DS16585,BMG_DS063529,Combined immunodeficiency due to partial RAG1 deficiency,UMLS ID:C4510944,Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder) | Combined immunodeficiency due to partial RAG1 deficiency | Combined immunodeficiency due to partial recombination-activating gene 1 deficiency | Combined immunodeficiency with expansion of gamma delta T cell,SNOMEDCT ID:725290000,,,,,,,,,, +BMGC_DS16586,BMG_DS063530,Defect of purinergic receptor p2y G protein-coupled 12,UMLS ID:C4510945,Defect of purinergic receptor p2y G protein-coupled 12 (disorder) | Defect of purinergic receptor p2y G protein-coupled 12 | ADP platelet receptor P2Y12 defect | P2Y12 (purinergic receptor p2y G protein-coupled 12) defect | P2Y12 defect,SNOMEDCT ID:725291001,,,,,,,,,, +BMGC_DS16587,BMG_DS063532,"X-linked spasticity, intellectual disability, epilepsy syndrome",UMLS ID:C4510949,"X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) | X-linked spasticity, intellectual disability, epilepsy syndrome",SNOMEDCT ID:725163002,,,X-linked spasticity-intellectual disability-epilepsy syndrome,MONDO:0017856,,,,,, +BMGC_DS16588,BMG_DS063540,Puberty disorder due to estrogen resistance,UMLS ID:C4510972,Puberty disorder due to estrogen resistance (disorder) | Puberty disorder due to estrogen resistance | Puberty disorder due to oestrogen resistance | Estrogen resistance syndrome | Oestrogen resistance syndrome,SNOMEDCT ID:724555000,,,,,,,,,, +BMGC_DS16589,BMG_DS063553,,UMLS ID:C4511003,,,,,acute myeloid leukemia with t(8;16)(p11;p13) translocation,MONDO:0018256,,,acute myeloid leukemia with KAT6A-CREBBP fusion,DOID:0070630,, +BMGC_DS16590,BMG_DS063554,Autosomal dominant striatal neurodegeneration,UMLS ID:C4511004,Autosomal dominant striatal neurodegeneration (disorder) | Autosomal dominant striatal neurodegeneration | ADSD - autosomal dominant striatal neurodegeneration,SNOMEDCT ID:725392005,,,,,,,,,, +BMGC_DS16591,BMG_DS063566,Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type,UMLS ID:C4511044,Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) | Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type | RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other | RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other,SNOMEDCT ID:725407006,,,recessive dystrophic epidermolysis bullosa-generalized other,MONDO:0019522,,,,,, +BMGC_DS16592,BMG_DS063576,Congenital muscular dystrophy Paradas type,UMLS ID:C4511057,Congenital muscular dystrophy Paradas type (disorder) | Congenital muscular dystrophy Paradas type | Congenital myopathy Paradas type,SNOMEDCT ID:725420009,,,"congenital myopathy, Paradas type",MONDO:0016049,,,,,, +BMGC_DS16593,BMG_DS063577,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency,UMLS ID:C4511091,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency,SNOMEDCT ID:725431001,,,autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,MONDO:0017901,,,,,, +BMGC_DS16594,BMG_DS063578,Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency,UMLS ID:C4511097,Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency | Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency,SNOMEDCT ID:725150008,,,,,,,,,, +BMGC_DS16595,BMG_DS063579,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency,UMLS ID:C4511098,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency,SNOMEDCT ID:725432008,,,autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,MONDO:0017902,,,,,, +BMGC_DS16596,BMG_DS063580,Severe congenital hypochromic anemia with ringed sideroblasts,UMLS ID:C4511137,Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Severe congenital hypochromic anemia with ringed sideroblasts | Severe congenital hypochromic anaemia with ringed sideroblasts | Severe congenital hypochromic sideroblastic anemia | Severe congenital hypochromic sideroblastic anaemia,SNOMEDCT ID:725463007,,,,,,,,,, +BMGC_DS16597,BMG_DS063581,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,UMLS ID:C4511138,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | Adult-onset CPEO (chronic progressive external ophthalmoplegia) with mitochondrial myopathy,SNOMEDCT ID:725464001,,,adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,MONDO:0018002,,,,,, +BMGC_DS16598,BMG_DS063586,Bathing suit ichthyosis,UMLS ID:C4511230,Bathing suit ichthyosis (disorder) | Bathing suit ichthyosis,SNOMEDCT ID:725588002,,,bathing suit ichthyosis,MONDO:0015085,,,,,, +BMGC_DS16599,BMG_DS063593,Butterfly-shaped pigmentary macular dystrophy,UMLS ID:C4511237,Butterfly-shaped pigmentary macular dystrophy (disorder) | Butterfly-shaped pigmentary macular dystrophy | Butterfly-shaped pattern dystrophy | Butterfly-shaped pigment dystrophy,SNOMEDCT ID:725590001,,,butterfly-shaped pigment dystrophy,MONDO:0100466,,,,,, +BMGC_DS16600,BMG_DS063595,Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization,UMLS ID:C4511239,Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder) | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization | Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunisation,SNOMEDCT ID:725592009,,,congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization,MONDO:0019068,,,,,, +BMGC_DS16601,BMG_DS063647,Autosomal recessive limb girdle muscular dystrophy type 2Y,UMLS ID:C4511482,"Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) | Autosomal recessive limb girdle muscular dystrophy type 2Y | Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency | Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency | Muscular dystrophy with progressive weakness, distal contracture and rigid spine",SNOMEDCT ID:725907002,,,autosomal recessive limb-girdle muscular dystrophy type 2Y,MONDO:0014900,,,,,,OMIM ID:617072 +BMGC_DS16602,BMG_DS063654,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,UMLS ID:C4511528,Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | Familial primary hypomagnesaemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | Renal hypomagnesemia type 3 | Renal hypomagnesaemia type 3,SNOMEDCT ID:725033008,,,,,,,,,, +BMGC_DS16603,BMG_DS063662,Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse,UMLS ID:C4511590,Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse (disorder) | Cannabis hyperemesis syndrome co-occurrent and due to cannabis abuse,SNOMEDCT ID:11047881000119101,,,,,,,,,, +BMGC_DS16604,BMG_DS063663,Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence,UMLS ID:C4511594,Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence (disorder) | Cannabis hyperemesis syndrome co-occurrent and due to cannabis dependence,SNOMEDCT ID:11048011000119103,,,,,,,,,, +BMGC_DS16605,BMG_DS063668,Autosomal dominant tubulointerstitial kidney disease,UMLS ID:C4511620,Autosomal dominant medullary cystic kidney disease | Autosomal dominant tubulointerstitial kidney disease | Autosomal dominant tubulointerstitial kidney disease (disorder),SNOMEDCT ID:726018006,,,autosomal dominant medullary cystic kidney disease with or without hyperuricemia,MONDO:0008264,,,,,, +BMGC_DS16606,BMG_DS063672,CAMOS syndrome,UMLS ID:C4511633,"Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) | CAMOS syndrome | CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome | Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome | SCAR5 - spinocerebellar ataxia autosomal recessive 5",SNOMEDCT ID:726031001,,,CAMOS syndrome,MONDO:0019374,,,,,,OMIM ID:606937 +BMGC_DS16607,BMG_DS063675,Hereditary hypercarotenemia and vitamin A deficiency,UMLS ID:C4511672,Hereditary hypercarotenemia and vitamin A deficiency (disorder) | Hereditary hypercarotenemia and vitamin A deficiency | Hereditary hypercarotenaemia and vitamin A deficiency,SNOMEDCT ID:726079008,,,,,,,,,, +BMGC_DS16608,BMG_DS063677,X-linked diffuse leiomyomatosis with Alport syndrome,UMLS ID:C4511693,"X-linked diffuse leiomyomatosis with Alport syndrome (disorder) | X-linked diffuse leiomyomatosis with Alport syndrome | X-linked diffuse leiomyomatosis, Alport syndrome",SNOMEDCT ID:726106004,,,,,,,,,, +BMGC_DS16609,BMG_DS063717,Autosomal recessive limb girdle muscular dystrophy type 2P,UMLS ID:C4511963,Autosomal recessive limb girdle muscular dystrophy type 2P (disorder) | Autosomal recessive limb girdle muscular dystrophy type 2P,SNOMEDCT ID:726614009,,,autosomal recessive limb-girdle muscular dystrophy type 2P,MONDO:0013440,,,,,,OMIM ID:613818 +BMGC_DS16610,BMG_DS063719,Spastic paraplegia with Paget disease of bone syndrome,UMLS ID:C4511969,Spastic paraplegia with Paget disease of bone syndrome (disorder) | Spastic paraplegia with Paget disease of bone syndrome,SNOMEDCT ID:726622002,,,spastic paraplegia-Paget disease of bone syndrome,MONDO:0018005,,,,,, +BMGC_DS16611,BMG_DS063723,"Central nervous system calcification, deafness, tubular acidosis, anemia syndrome",UMLS ID:C4512024,"Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) | Central nervous system calcification, deafness, tubular acidosis, anemia syndrome | Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome | Yoshimura Takeshita syndrome",SNOMEDCT ID:726669007,,,central nervous system calcification-deafness-tubular acidosis-anemia syndrome,MONDO:0017924,,,,,, +BMGC_DS16612,BMG_DS063728,Epileptic encephalopathy with global cerebral demyelination,UMLS ID:C4512050,Epileptic encephalopathy with global cerebral demyelination (disorder) | Epileptic encephalopathy with global cerebral demyelination | Mitochondrial aspartate-glutamate carrier 1 deficiency,SNOMEDCT ID:726702005,,,,,,,,,, +BMGC_DS16613,BMG_DS063733,X-linked intellectual disability Nascimento type,UMLS ID:C4512071,"X-linked intellectual disability Nascimento type (disorder) | X-linked intellectual disability Nascimento type | X-linked intellectual disability, nail dystrophy, seizures syndrome",SNOMEDCT ID:726732002,,,,,,,,,, +BMGC_DS16614,BMG_DS063740,"X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency",UMLS ID:C4517296,"X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome | X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) | X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency",SNOMEDCT ID:732246009,,,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,MONDO:0018495,,,,,, +BMGC_DS16615,BMG_DS063747,Coenzyme A synthase protein associated neurodegeneration,UMLS ID:C4517377,Coenzyme A synthase protein associated neurodegeneration (disorder) | Coenzyme A synthase protein associated neurodegeneration | COASY protein-associated neurodegeneration | CoPAN - coenzyme A synthase protein associated neurodegeneration | Neurodegeneration with brain iron accumulation due to COASY mutation,SNOMEDCT ID:732264002,,,neurodegeneration with brain iron accumulation 6,MONDO:0014290,,,,,,OMIM ID:615643 +BMGC_DS16616,BMG_DS063751,Autosomal recessive limb girdle muscular dystrophy type 2S,UMLS ID:C4517996,Autosomal recessive limb girdle muscular dystrophy type 2S (disorder) | Autosomal recessive limb girdle muscular dystrophy type 2S,SNOMEDCT ID:732929002,,,autosomal recessive limb-girdle muscular dystrophy type R18,MONDO:0014144,,,,,,OMIM ID:615356 +BMGC_DS16617,BMG_DS063752,Autosomal recessive limb girdle muscular dystrophy type 2T,UMLS ID:C4518000,Autosomal recessive limb girdle muscular dystrophy type 2T (disorder) | Autosomal recessive limb girdle muscular dystrophy type 2T,SNOMEDCT ID:732930007,,,autosomal recessive limb-girdle muscular dystrophy type 2T,MONDO:0014142,,,,,,OMIM ID:615352 +BMGC_DS16618,BMG_DS063759,"Autism spectrum disorder, epilepsy, arthrogryposis syndrome",UMLS ID:C4518080,"Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | Autism spectrum disorder, epilepsy, arthrogryposis syndrome | SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation",SNOMEDCT ID:733623005,,,,,,,,,, +BMGC_DS16619,BMG_DS063766,Acral dystrophic epidermolysis bullosa,UMLS ID:C4518087,Acral dystrophic epidermolysis bullosa (disorder) | Acral dystrophic epidermolysis bullosa | Acral DEB (dystrophic epidermolysis bullosa),SNOMEDCT ID:733638006,,,acral dystrophic epidermolysis bullosa,MONDO:0015552,,,,,, +BMGC_DS16620,BMG_DS063814,Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency,UMLS ID:C4518328,Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) | Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency | Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency | Primary immunodeficiency due to MCM4 deficiency,SNOMEDCT ID:724275005,,,,,,,,,, +BMGC_DS16621,BMG_DS063815,"Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome",UMLS ID:C4518329,"Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) | Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome | Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism",SNOMEDCT ID:724097003,,,,,,,,,, +BMGC_DS16622,BMG_DS063817,,UMLS ID:C4518333,,,,,clear cell papillary renal cell carcinoma,MONDO:0018448,,,,,, +BMGC_DS16623,BMG_DS063820,Spinocerebellar ataxia type 40,UMLS ID:C4518336,Spinocerebellar ataxia type 40 (disorder) | Spinocerebellar ataxia type 40,SNOMEDCT ID:734020000,,,spinocerebellar ataxia type 40,MONDO:0014475,,,,,,OMIM ID:616053 +BMGC_DS16624,BMG_DS063821,Spinocerebellar ataxia type 38 (disorder),UMLS ID:C4518337,Spinocerebellar ataxia type 38 (disorder) | Spinocerebellar ataxia type 38,SNOMEDCT ID:734021001,,,spinocerebellar ataxia type 38,MONDO:0014417,,,,,,OMIM ID:615957 +BMGC_DS16625,BMG_DS063822,Wolfram-like syndrome,UMLS ID:C4518338,Wolfram-like syndrome (disorder) | Wolfram-like syndrome,SNOMEDCT ID:734022008,,,,,,,,,, +BMGC_DS16626,BMG_DS063825,,UMLS ID:C4518341,,,,,isolated congenital megalocornea,MONDO:0010649,,,,,,OMIM ID:309300 +BMGC_DS16627,BMG_DS063827,Distal 22q11.2 microdeletion syndrome,UMLS ID:C4518343,Distal 22q11.2 microdeletion syndrome (disorder) | Distal 22q11.2 microdeletion syndrome | Distal monosomy 22q11.2,SNOMEDCT ID:734029004,,,,,,,,,, +BMGC_DS16628,BMG_DS063828,12q15q21.1 microdeletion syndrome,UMLS ID:C4518344,12q15q21.1 microdeletion syndrome (disorder) | 12q15q21.1 microdeletion syndrome | Deletion 12q15q21.1 | Monosomy 12q15q21.1,SNOMEDCT ID:734030009,,,12q15q21.1 microdeletion syndrome,MONDO:0017334,,,,,, +BMGC_DS16629,BMG_DS063830,,UMLS ID:C4518356,,,,,MIT family translocation renal cell carcinoma,MONDO:0017886,,,,,, +BMGC_DS16630,BMG_DS063883,Early-onset Lafora body disease,UMLS ID:C4518574,Early-onset Lafora body disease (disorder) | Early-onset Lafora body disease,SNOMEDCT ID:733082001,,,,,,,,,, +BMGC_DS16631,BMG_DS063924,Epilepsy of infancy with migrating focal seizures,UMLS ID:C4518639,Epilepsy of infancy with migrating focal seizures | Epilepsy of infancy with migrating focal seizures (disorder),SNOMEDCT ID:733195008,,,epilepsy of infancy with migrating focal seizures,MONDO:0100025,,,,,,OMIM ID:MTHU071843 +BMGC_DS16632,BMG_DS063944,Noninfectious panuveitis,UMLS ID:C4518725,Noninfectious panuveitis | Noninfectious panuveitis (disorder),SNOMEDCT ID:733337008,,,,,,,,,, +BMGC_DS16633,BMG_DS063949,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,UMLS ID:C4518774,Joubert syndrome with JATD (Jeune asphyxiating thoracic dystrophy) | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder),SNOMEDCT ID:733418003,,,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,MONDO:0018342,,,,,, +BMGC_DS16634,BMG_DS063951,Prion protein systemic amyloidosis,UMLS ID:C4518776,Prion protein systemic amyloidosis (disorder) | Chronic diarrhoea with hereditary sensory and autonomic neuropathy | Prion protein systemic amyloidosis | PrP (prion protein) systemic amyloidosis | Chronic diarrhea with hereditary sensory and autonomic neuropathy,SNOMEDCT ID:733422008,,,PrP systemic amyloidosis,MONDO:0018339,,,,,, +BMGC_DS16635,BMG_DS063952,Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency,UMLS ID:C4518781,Meconium ileus due to guanylate cyclase 2C deficiency | Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency | Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (disorder),SNOMEDCT ID:733447005,,,intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,MONDO:0013843,,,,,,OMIM ID:614665 +BMGC_DS16636,BMG_DS063954,Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency,UMLS ID:C4518783,Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 | MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation | Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) | Congenital disorder of glycosylation type II due to MAN1B1 deficiency | Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency,SNOMEDCT ID:733450008,,,MAN1B1-congenital disorder of glycosylation,MONDO:0018349,,,,,, +BMGC_DS16637,BMG_DS063955,"Leukoencephalopathy, dystonia, motor neuropathy syndrome",UMLS ID:C4518784,"Leukoencephalopathy, dystonia, motor neuropathy syndrome | Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder) | Leucoencephalopathy, dystonia, motor neuropathy syndrome",SNOMEDCT ID:733452000,,,,,,,,,, +BMGC_DS16638,BMG_DS063956,"Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome",UMLS ID:C4518785,"Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome | Congenital ILNEB (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome | Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome (disorder) | Congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome",SNOMEDCT ID:733453005,,,"epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome",MONDO:0013881,,,,,,OMIM ID:614748 +BMGC_DS16639,BMG_DS063958,Ehlers-Danlos and osteogenesis imperfecta syndrome,UMLS ID:C4518787,Ehlers-Danlos and osteogenesis imperfecta syndrome | Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder),SNOMEDCT ID:733457006,,,Ehlers-Danlos/osteogenesis imperfecta syndrome,MONDO:0016470,,,,,, +BMGC_DS16640,BMG_DS063964,Distal myopathy with posterior leg and anterior hand involvement,UMLS ID:C4518807,Distal myopathy with posterior leg and anterior hand involvement (disorder) | Distal myopathy with posterior leg and anterior hand involvement | Distal ABD-filaminopathy,SNOMEDCT ID:733489002,,,,,,,,,, +BMGC_DS16641,BMG_DS063967,17q12 microdeletion syndrome,UMLS ID:C4518822,17q12 microdeletion syndrome | Monosomy 17q12 | 17q12 microdeletion syndrome (disorder),SNOMEDCT ID:733519008,,,,,,,,,, +BMGC_DS16642,BMG_DS063969,Distal 16p11.2 microdeletion syndrome,UMLS ID:C4518824,Distal 16p11.2 microdeletion syndrome | Distal 16p11.2 microdeletion syndrome (disorder) | Distal monosomy 16p11.2,SNOMEDCT ID:733521003,,,,,,,"chromosome 16p11.2 deletion syndrome, 220-kb",DOID:0060398,, +BMGC_DS16643,BMG_DS063971,,UMLS ID:C4518837,,,,,acute myeloid leukemia with t(6;9)(p23;q34),MONDO:0018433,,,,,, +BMGC_DS16644,BMG_DS063972,Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency,UMLS ID:C4518838,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency | Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency (disorder) | Adult-onset multiple mitochondrial DNA (deoxyribonucleic acid) deletion syndrome due to DGUOK (deoxyguanosine kinase) deficiency,SNOMEDCT ID:733599009,,,,,,,,,, +BMGC_DS16645,BMG_DS063973,Combined oxidative phosphorylation defect type 8,UMLS ID:C4518839,Combined oxidative phosphorylation defect type 8 (disorder) | Combined oxidative phosphorylation defect type 8 | COXPD8 - combined oxidative phosphorylation defect type 8,SNOMEDCT ID:733600007,,,combined oxidative phosphorylation defect type 8,MONDO:0013570,,,,,,OMIM ID:614096 +BMGC_DS16646,BMG_DS064121,,UMLS ID:C4520840,,,,,erythroleukemia,MONDO:0859598,,,,,, +BMGC_DS16647,BMG_DS064123,Otospondylomegaepiphyseal dysplasia,UMLS ID:C4520892,Otospondylomegaepiphyseal dysplasia | Otospondylomegaepiphyseal dysplasia (disorder),SNOMEDCT ID:254060000,,,otospondylomegaepiphyseal dysplasia,MONDO:0008975,,,,,, +BMGC_DS16648,BMG_DS064125,,UMLS ID:C4520981,,,,,basal ganglia disorder,MONDO:0003996,,,,,, +BMGC_DS16649,BMG_DS064126,,UMLS ID:C4520983,,,,,extrahepatic biliary atresia,MONDO:0100285,,,,,,OMIM ID:210500 +BMGC_DS16650,BMG_DS064127,Juvenile polyarthritis,UMLS ID:C4521004,,,,,polyarticular juvenile idiopathic arthritis,MONDO:0018456,,,,,,OMIM ID:MTHU056867 +BMGC_DS16651,BMG_DS064129,ACROMEGALY DUE TO PITUITARY ADENOMA 1,UMLS ID:C4521132,,,,,,,,,pituitary adenoma 1,DOID:0112009,,OMIM ID:102200 +BMGC_DS16652,BMG_DS064134,SPINOCEREBELLAR ATAXIA 44,UMLS ID:C4521563,,,,,spinocerebellar ataxia 44,MONDO:0033479,,,spinocerebellar ataxia 44,DOID:0080286,,OMIM ID:604473 | OMIM ID:617691 +BMGC_DS16653,BMG_DS064135,"FANCONI ANEMIA, COMPLEMENTATION GROUP W",UMLS ID:C4521564,,,,,"Fanconi anemia, complementation group W",MONDO:0044325,,,Fanconi anemia complementation group W,DOID:0060978,,OMIM ID:617784 | OMIM ID:614151 +BMGC_DS16654,BMG_DS064136,AUDITORY NEUROPATHY AND OPTIC ATROPHY,UMLS ID:C4521678,,,,,auditory neuropathy-optic atrophy syndrome,MONDO:0060582,,,,,,OMIM ID:103270 | OMIM ID:617717 +BMGC_DS16655,BMG_DS064137,"DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION",UMLS ID:C4521680,,,,,"hearing loss, autosomal dominant 34, with or without inflammation",MONDO:0033261,,,autosomal dominant nonsyndromic deafness 34,DOID:0080270,,OMIM ID:606416 | OMIM ID:617772 +BMGC_DS16656,BMG_DS064140,HELIX SYNDROME,UMLS ID:C4522164,,,,,HELIX syndrome,MONDO:0060564,,,,,,OMIM ID:617671 | OMIM ID:617579 +BMGC_DS16657,BMG_DS064151,,UMLS ID:C4524190,,,,,high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,MONDO:0018813,,,,,, +BMGC_DS16658,BMG_DS064158,,UMLS ID:C4528210,,,,,breast implant-associated anaplastic large cell lymphoma,MONDO:0850112,,,,,, +BMGC_DS16659,BMG_DS064166,,UMLS ID:C4538355,,,,,growth hormone secreting pituitary adenoma 1,MONDO:0007052,,,,,,OMIM ID:102200 +BMGC_DS16660,BMG_DS064168,MARSILI SYNDROME,UMLS ID:C4538468,,,,,"indifference to pain, congenital, autosomal dominant",MONDO:0007828,,,Marsili syndrome,DOID:0081075,,OMIM ID:147430 | OMIM ID:617828 +BMGC_DS16661,BMG_DS064169,"SYRINGOMYELIA, NONCOMMUNICATING ISOLATED",UMLS ID:C4538540,,,,,"syringomyelia, isolated",MONDO:0008525,,,,,,OMIM ID:186700 +BMGC_DS16662,BMG_DS064170,"COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY",UMLS ID:C4538570,,,,,,,,,,,,OMIM ID:226300 | OMIM ID:125240 +BMGC_DS16663,BMG_DS064171,DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1,UMLS ID:C4538630,,,,,diencephalic-mesencephalic junction dysplasia syndrome 1,MONDO:0009625,,,,,,OMIM ID:251280 | OMIM ID:605622 +BMGC_DS16664,BMG_DS064173,"GALLOWAY-MOWAT SYNDROME 2, X-LINKED",UMLS ID:C4538784,,,,,"Galloway-Mowat syndrome 2, X-linked",MONDO:0033006,,,Galloway-Mowat syndrome 2,DOID:0080244,,OMIM ID:300060 | OMIM ID:301006 +BMGC_DS16665,BMG_DS064174,,UMLS ID:C4538788,,,,,"intellectual disability, X-linked, syndromic, Houge type",MONDO:0030909,,,,,,OMIM ID:301008 +BMGC_DS16666,BMG_DS064175,"MYOPIA 26, X-LINKED, FEMALE-LIMITED",UMLS ID:C4538795,,,,,"myopia 26, X-linked, female-limited",MONDO:0049221,,,,,,OMIM ID:301010 | OMIM ID:301770 +BMGC_DS16667,BMG_DS064179,JOUBERT SYNDROME 34,UMLS ID:C4539386,,,,,Joubert syndrome 34,MONDO:0800383,,,,,,OMIM ID:611951 | OMIM ID:614175 +BMGC_DS16668,BMG_DS064182,,UMLS ID:C4539685,,,,,"pituitary adenoma 5, multiple types",MONDO:0054601,,,,,,OMIM ID:617540 +BMGC_DS16669,BMG_DS064184,MECKEL SYNDROME 13,UMLS ID:C4539714,,,,,Meckel syndrome 13,MONDO:0033044,,,Meckel syndrome 13,DOID:0080253,,OMIM ID:616183 | OMIM ID:617562 +BMGC_DS16670,BMG_DS064185,JOUBERT SYNDROME 29,UMLS ID:C4539715,,,,,Joubert syndrome 29,MONDO:0800372,,,Meckel syndrome 13,DOID:0080253,,OMIM ID:617562 | OMIM ID:616183 +BMGC_DS16671,BMG_DS064186,OROFACIODIGITAL SYNDROME XVI,UMLS ID:C4539729,,,,,orofaciodigital syndrome 16,MONDO:0033045,,,orofaciodigital syndrome XVI,DOID:0080254,,OMIM ID:617563 | OMIM ID:616183 +BMGC_DS16672,BMG_DS064187,,UMLS ID:C4539754,,,,,"ichthyosis, congenital, autosomal recessive 14",MONDO:0033091,,,,,,OMIM ID:617571 +BMGC_DS16673,BMG_DS064188,EXUDATIVE VITREORETINOPATHY 7,UMLS ID:C4539767,,,,,exudative vitreoretinopathy 7,MONDO:0033123,,,exudative vitreoretinopathy 7,DOID:0080264,,OMIM ID:617572 | OMIM ID:116806 +BMGC_DS16674,BMG_DS064189,,UMLS ID:C4539772,,,,,"ichthyosis, congenital, autosomal recessive 13",MONDO:0033092,,,,,,OMIM ID:617574 +BMGC_DS16675,BMG_DS064190,SPERMATOGENIC FAILURE 18,UMLS ID:C4539783,,,,,spermatogenic failure 18,MONDO:0054615,,,spermatogenic failure 18,DOID:0070165,,OMIM ID:617576 | OMIM ID:603332 +BMGC_DS16676,BMG_DS064191,"CILIARY DYSKINESIA, PRIMARY, 37",UMLS ID:C4539798,,,,,"ciliary dyskinesia, primary, 37",MONDO:0033204,,,primary ciliary dyskinesia 37,DOID:0080266,,OMIM ID:603332 | OMIM ID:617577 +BMGC_DS16677,BMG_DS064192,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25",UMLS ID:C4539808,,,,,"spinocerebellar ataxia, autosomal recessive 25",MONDO:0033115,,,autosomal recessive spinocerebellar ataxia 25,DOID:0080259,,OMIM ID:604261 | OMIM ID:617584 +BMGC_DS16678,BMG_DS064193,IMMUNODEFICIENCY 53,UMLS ID:C4539811,,,,,immunodeficiency 53,MONDO:0054696,,,immunodeficiency 53,DOID:0111992,,OMIM ID:617585 | OMIM ID:604758 +BMGC_DS16679,BMG_DS064194,SPERMATOGENIC FAILURE 19,UMLS ID:C4539818,,,,,spermatogenic failure 19,MONDO:0054723,,,spermatogenic failure 19,DOID:0070170,,OMIM ID:617592 | OMIM ID:617558 +BMGC_DS16680,BMG_DS064195,SPERMATOGENIC FAILURE 20,UMLS ID:C4539824,,,,,spermatogenic failure 20,MONDO:0054724,,,spermatogenic failure 20,DOID:0070166,,OMIM ID:617593 | OMIM ID:617559 +BMGC_DS16681,BMG_DS064196,BIRK-LANDAU-PEREZ SYNDROME,UMLS ID:C4539828,,,,,psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,MONDO:0044726,,,,,,OMIM ID:604604 | OMIM ID:617595 +BMGC_DS16682,BMG_DS064197,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3,UMLS ID:C4539839,,,,,mosaic variegated aneuploidy syndrome 3,MONDO:0054736,,,mosaic variegated aneuploidy syndrome 3,DOID:0080689,,OMIM ID:617598 | OMIM ID:604507 +BMGC_DS16683,BMG_DS064198,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55,UMLS ID:C4539843,,,,,"developmental and epileptic encephalopathy, 55",MONDO:0033364,,,developmental and epileptic encephalopathy 55,DOID:0080283,,OMIM ID:605938 | OMIM ID:617599 +BMGC_DS16684,BMG_DS064199,,UMLS ID:C4539848,,,,,"intellectual disability, autosomal dominant 45",MONDO:0030910,,,,,,OMIM ID:617600 +BMGC_DS16685,BMG_DS064200,,UMLS ID:C4539851,,,,,"intellectual disability, autosomal dominant 46",MONDO:0030911,,,,,,OMIM ID:617601 +BMGC_DS16686,BMG_DS064201,CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME,UMLS ID:C4539857,,,,,congenital heart defects and skeletal malformations syndrome,MONDO:0060532,,,,,,OMIM ID:189980 | OMIM ID:617602 +BMGC_DS16687,BMG_DS064202,"MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES",UMLS ID:C4539873,,,,,"microcephaly, short stature, and limb abnormalities",MONDO:0060533,,,"microcephaly, short stature, and limb abnormalities",DOID:0081431,,OMIM ID:611428 | OMIM ID:617604 +BMGC_DS16688,BMG_DS064203,"DEAFNESS, AUTOSOMAL DOMINANT 71",UMLS ID:C4539881,,,,,"hearing loss, autosomal dominant 71",MONDO:0033258,,,autosomal dominant nonsyndromic deafness 71,DOID:0080267,,OMIM ID:617605 | OMIM ID:612186 +BMGC_DS16689,BMG_DS064204,"DEAFNESS, AUTOSOMAL DOMINANT 72",UMLS ID:C4539886,,,,,"hearing loss, autosomal dominant 72",MONDO:0033259,,,autosomal dominant nonsyndromic deafness 72,DOID:0080268,,OMIM ID:617606 | OMIM ID:606107 +BMGC_DS16690,BMG_DS064205,"AMELOGENESIS IMPERFECTA, TYPE IIIB",UMLS ID:C4539891,,,,,amelogenesis imperfecta type 3B,MONDO:0021547,,,amelogenesis imperfecta type 3B,DOID:0080243,,OMIM ID:617607 | OMIM ID:610912 +BMGC_DS16691,BMG_DS064206,"NEPHROTIC SYNDROME, TYPE 15",UMLS ID:C4539896,,,,,nephrotic syndrome 15,MONDO:0033262,,,nephrotic syndrome type 15,DOID:0080271,,OMIM ID:606382 | OMIM ID:617609 +BMGC_DS16692,BMG_DS064207,POLYCYSTIC KIDNEY DISEASE 5,UMLS ID:C4539903,,,,,polycystic kidney disease 5,MONDO:0033281,,,polycystic kidney disease 5,DOID:0080273,,OMIM ID:617570 | OMIM ID:617610 +BMGC_DS16693,BMG_DS064208,Multiple mitochondrial dysfunctions syndrome type 5,UMLS ID:C4539919,Multiple mitochondrial dysfunctions syndrome type 5 (disorder) | ISCA1 deficiency | MMDS5 - multiple mitochondrial dysfunctions syndrome type 5 | ISCA1 (iron-sulfur cluster assembly 1) deficiency | Multiple mitochondrial dysfunctions syndrome type 5,SNOMEDCT ID:1279890001,,,multiple mitochondrial dysfunctions syndrome 5,MONDO:0033282,,,,,,OMIM ID:617613 +BMGC_DS16694,BMG_DS064209,SKRABAN-DEARDORFF SYNDROME,UMLS ID:C4539927,,,,,Skraban-Deardorff syndrome,MONDO:0054636,,,,,,OMIM ID:617424 | OMIM ID:617616 +BMGC_DS16695,BMG_DS064210,JOUBERT SYNDROME 30,UMLS ID:C4539937,,,,,Joubert syndrome 30,MONDO:0033308,,,Joubert syndrome 30,DOID:0080275,,OMIM ID:617612 | OMIM ID:617622 +BMGC_DS16696,BMG_DS064211,"FIBROMATOSIS, GINGIVAL, 5",UMLS ID:C4539942,,,,,"fibromatosis, gingival, 5",MONDO:0033493,,,gingival fibromatosis 5,DOID:0080280,,OMIM ID:617626 | OMIM ID:600571 +BMGC_DS16697,BMG_DS064212,,UMLS ID:C4539944,,,,,schizophrenia 19,MONDO:0033312,,,,,,OMIM ID:617629 +BMGC_DS16698,BMG_DS064213,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26",UMLS ID:C4539948,,,,,"spinocerebellar ataxia, autosomal recessive 26",MONDO:0033116,,,autosomal recessive spinocerebellar ataxia 26,DOID:0080260,,OMIM ID:617633 | OMIM ID:194360 +BMGC_DS16699,BMG_DS064214,,UMLS ID:C4539951,,,,,"intellectual disability, autosomal dominant 47",MONDO:0030912,,,,,,OMIM ID:617635 +BMGC_DS16700,BMG_DS064215,"DEAFNESS, AUTOSOMAL RECESSIVE 106",UMLS ID:C4539954,,,,,"hearing loss, autosomal recessive 106",MONDO:0033198,,,autosomal recessive nonsyndromic deafness 106,DOID:0080261,,OMIM ID:617637 | OMIM ID:614988 +BMGC_DS16701,BMG_DS064216,IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS,UMLS ID:C4539957,,,,,immunodeficiency 11b with atopic dermatitis,MONDO:0054697,,,immunodeficiency 11B,DOID:0111958,,OMIM ID:607210 | OMIM ID:617638 +BMGC_DS16702,BMG_DS064217,"DEAFNESS, AUTOSOMAL RECESSIVE 107",UMLS ID:C4539964,,,,,"hearing loss, autosomal recessive 107",MONDO:0033199,,,autosomal recessive nonsyndromic deafness 107,DOID:0080262,,OMIM ID:606962 | OMIM ID:617639 +BMGC_DS16703,BMG_DS064218,"CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY",UMLS ID:C4539968,,,,,"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",MONDO:0060549,,,"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",DOID:0112359,,OMIM ID:176310 | OMIM ID:617641 +BMGC_DS16704,BMG_DS064219,,UMLS ID:C4539976,,,,,"polydactyly, postaxial, type a7",MONDO:0060550,,,,,,OMIM ID:617642 +BMGC_DS16705,BMG_DS064220,"CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES",UMLS ID:C4539985,,,,,"cerebellar atrophy, developmental delay, and seizures",MONDO:0060551,,,,,,OMIM ID:600150 | OMIM ID:617643 +BMGC_DS16706,BMG_DS064221,SPERMATOGENIC FAILURE 21,UMLS ID:C4539991,,,,,spermatogenic failure 21,MONDO:0054725,,,spermatogenic failure 21,DOID:0070163,,OMIM ID:617644 | OMIM ID:602144 +BMGC_DS16707,BMG_DS064222,"DEAFNESS, AUTOSOMAL RECESSIVE 108",UMLS ID:C4539997,,,,,"hearing loss, autosomal recessive 108",MONDO:0033200,,,autosomal recessive nonsyndromic deafness 108,DOID:0080263,,OMIM ID:617654 | OMIM ID:602336 +BMGC_DS16708,BMG_DS064223,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1",UMLS ID:C4540004,,,,,"vertebral, cardiac, renal, and limb defects syndrome 1",MONDO:0060554,,,,,,OMIM ID:617660 | OMIM ID:604521 +BMGC_DS16709,BMG_DS064224,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",UMLS ID:C4540014,,,,,"vertebral, cardiac, renal, and limb defects syndrome 2",MONDO:0060555,,,,,,OMIM ID:605197 | OMIM ID:617661 +BMGC_DS16710,BMG_DS064225,"Severe myopia, generalized joint laxity, short stature syndrome",UMLS ID:C4540020,"Severe myopia, generalized joint laxity, short stature syndrome | Severe myopia, generalised joint laxity, short stature syndrome | Severe myopia, generalized joint laxity, short stature syndrome (disorder)",SNOMEDCT ID:1217372003,,,"joint laxity, short stature, and myopia",MONDO:0060556,,,,,,OMIM ID:617662 +BMGC_DS16711,BMG_DS064226,"DEAFNESS, AUTOSOMAL DOMINANT 73",UMLS ID:C4540024,,,,,"hearing loss, autosomal dominant 73",MONDO:0033260,,,autosomal dominant nonsyndromic deafness 73,DOID:0080269,,OMIM ID:617663 | OMIM ID:603317 +BMGC_DS16712,BMG_DS064227,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32,UMLS ID:C4540029,,,,,combined oxidative phosphorylation deficiency 32,MONDO:0054654,,,combined oxidative phosphorylation deficiency 32,DOID:0111492,,OMIM ID:617664 | OMIM ID:611994 +BMGC_DS16713,BMG_DS064228,,UMLS ID:C4540031,,,,,combined oxidative phosphorylation deficiency,MONDO:0000732,,,,,, +BMGC_DS16714,BMG_DS064229,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56,UMLS ID:C4540034,,,,,"developmental and epileptic encephalopathy, 56",MONDO:0033365,,,developmental and epileptic encephalopathy 56,DOID:0080282,,OMIM ID:605356 | OMIM ID:617665 +BMGC_DS16715,BMG_DS064230,FRASER SYNDROME 2,UMLS ID:C4540036,,,,,Fraser syndrome 2,MONDO:0054738,,,Fraser syndrome 2,DOID:0111407,,OMIM ID:617666 | OMIM ID:608945 +BMGC_DS16716,BMG_DS064231,FRASER SYNDROME 3,UMLS ID:C4540040,,,,,Fraser syndrome 3,MONDO:0054739,,,Fraser syndrome 3,DOID:0111406,,OMIM ID:617667 | OMIM ID:604597 +BMGC_DS16717,BMG_DS064232,"ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES",UMLS ID:C4540052,,,,,"encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities",MONDO:0060562,,,,,,OMIM ID:617659 | OMIM ID:617668 +BMGC_DS16718,BMG_DS064233,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY",UMLS ID:C4540086,,,,,childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,MONDO:0044701,,,childhood-onset neurodegeneration with brain atrophy,DOID:0070474,,OMIM ID:617672 | OMIM ID:600673 +BMGC_DS16719,BMG_DS064234,"Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome",UMLS ID:C4540096,"Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome | Mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)",SNOMEDCT ID:1237514002,,,mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,MONDO:0044714,,,,,,OMIM ID:617675 +BMGC_DS16720,BMG_DS064235,BLEPHAROCHEILODONTIC SYNDROME 2,UMLS ID:C4540127,,,,,blepharocheilodontic syndrome 2,MONDO:0040503,,,blepharocheilodontic syndrome 2,DOID:0080346,,OMIM ID:617681 | OMIM ID:601045 +BMGC_DS16721,BMG_DS064236,"Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome",UMLS ID:C4540131,"Pilarowski Bjornsson syndrome | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) | Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome",SNOMEDCT ID:1217382002,,,Pilarowski-Bjornsson syndrome,MONDO:0060568,,,,,,OMIM ID:617682 +BMGC_DS16722,BMG_DS064237,,UMLS ID:C4540135,,,,,"pituitary adenoma 3, multiple types",MONDO:0054665,,,,,,OMIM ID:617686 +BMGC_DS16723,BMG_DS064238,OVARIAN DYSGENESIS 5,UMLS ID:C4540141,,,,,ovarian dysgenesis 5,MONDO:0054666,,,ovarian dysgenesis 5,DOID:0080497,,OMIM ID:610224 | OMIM ID:617690 +BMGC_DS16724,BMG_DS064239,AL KAISSI SYNDROME,UMLS ID:C4540156,,,,,Al Kaissi syndrome,MONDO:0044324,,,,,,OMIM ID:603464 | OMIM ID:617694 +BMGC_DS16725,BMG_DS064240,,UMLS ID:C4540164,,,,,"pontocerebellar hypoplasia, type 11",MONDO:0054669,,,,,,OMIM ID:617695 +BMGC_DS16726,BMG_DS064241,3-methylglutaconic aciduria type 9,UMLS ID:C4540171,"3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome | 3-methylglutaconic aciduria type 9 | 3-methylglutaconic aciduria type 9 (disorder)",SNOMEDCT ID:1222672002,,,3-methylglutaconic aciduria type 9,MONDO:0044724,,,,,,OMIM ID:617698 +BMGC_DS16727,BMG_DS064242,SPERMATOGENIC FAILURE 22,UMLS ID:C4540179,,,,,spermatogenic failure 22,MONDO:0054726,,,spermatogenic failure 22,DOID:0070177,,OMIM ID:617706 | OMIM ID:617670 +BMGC_DS16728,BMG_DS064243,SPERMATOGENIC FAILURE 23,UMLS ID:C4540185,,,,,spermatogenic failure 23,MONDO:0054727,,,spermatogenic failure 23,DOID:0070181,,OMIM ID:617707 | OMIM ID:605792 +BMGC_DS16729,BMG_DS064244,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES",UMLS ID:C4540188,,,,,"neurodevelopmental disorder with microcephaly, ataxia, and seizures",MONDO:0060577,,,,,,OMIM ID:607529 | OMIM ID:617709 +BMGC_DS16730,BMG_DS064245,WARS2-related combined oxidative phosphorylation defect,UMLS ID:C4540192,"WARS2-related combined oxidative phosphorylation defect | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect | Mitochondrial tryptophanyl-tRNA synthetase deficiency",SNOMEDCT ID:1260128008,,,"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",MONDO:0060578,,,,,,OMIM ID:617710 +BMGC_DS16731,BMG_DS064246,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91,UMLS ID:C4540199,,,,,developmental and epileptic encephalopathy 91,MONDO:0020630,,,developmental and epileptic encephalopathy 91,DOID:0080472,,OMIM ID:617711 | OMIM ID:114105 +BMGC_DS16732,BMG_DS064247,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3,UMLS ID:C4540205,,,,,oocyte maturation defect 3,MONDO:0021574,,,,,,OMIM ID:617712 | OMIM ID:182889 +BMGC_DS16733,BMG_DS064248,,UMLS ID:C4540209,,,,,combined oxidative phosphorylation deficiency 33,MONDO:0054677,,,,,,OMIM ID:617713 +BMGC_DS16734,BMG_DS064249,IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA,UMLS ID:C4540232,,,,,platelet abnormalities with eosinophilia and immune-mediated inflammatory disease,MONDO:0060583,,,immunodeficiency 71,DOID:0112004,,OMIM ID:604223 | OMIM ID:617718 +BMGC_DS16735,BMG_DS064250,,UMLS ID:C4540251,,,,,"epiphyseal dysplasia, multiple, 7",MONDO:0054680,,,,,,OMIM ID:617719 +BMGC_DS16736,BMG_DS064253,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 9",UMLS ID:C4540265,,,,,"neuronopathy, distal hereditary motor, type 9",MONDO:0060585,,,autosomal dominant distal hereditary motor neuronopathy 9,DOID:0111212,,OMIM ID:191050 | OMIM ID:617721 +BMGC_DS16737,BMG_DS064254,GALLOWAY-MOWAT SYNDROME 3,UMLS ID:C4540266,,,,,Galloway-Mowat syndrome 3,MONDO:0033007,,,Galloway-Mowat syndrome 3,DOID:0080245,,OMIM ID:617729 | OMIM ID:610107 +BMGC_DS16738,BMG_DS064255,GALLOWAY-MOWAT SYNDROME 4,UMLS ID:C4540270,,,,,Galloway-Mowat syndrome 4,MONDO:0033008,,,Galloway-Mowat syndrome 4,DOID:0080246,,OMIM ID:617730 | OMIM ID:608679 +BMGC_DS16739,BMG_DS064256,GALLOWAY-MOWAT SYNDROME 5,UMLS ID:C4540274,,,,,Galloway-Mowat syndrome 5,MONDO:0033009,,,Galloway-Mowat syndrome 5,DOID:0080247,,OMIM ID:617731 | OMIM ID:608680 +BMGC_DS16740,BMG_DS064257,"FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION",UMLS ID:C4540277,,,,,"facial palsy, congenital, with ptosis and velopharyngeal dysfunction",MONDO:0060589,,,,,,OMIM ID:617732 | OMIM ID:615103 +BMGC_DS16741,BMG_DS064258,,UMLS ID:C4540284,,,,,oocyte maturation defect 4,MONDO:0021575,,,,,,OMIM ID:617743 +BMGC_DS16742,BMG_DS064259,"IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA",UMLS ID:C4540293,,,,,"immunodeficiency, developmental delay, and hypohomocysteinemia",MONDO:0060591,,,,,,OMIM ID:600492 | OMIM ID:617744 +BMGC_DS16743,BMG_DS064260,SWEENEY-COX SYNDROME,UMLS ID:C4540299,,,,,Sweeney-Cox syndrome,MONDO:0060592,,,Sweeney-Cox syndrome,DOID:0080538,,OMIM ID:601622 | OMIM ID:617746 +BMGC_DS16744,BMG_DS064261,,UMLS ID:C4540321,,,,,"intellectual disability, autosomal dominant 48",MONDO:0030913,,,,,,OMIM ID:617751 +BMGC_DS16745,BMG_DS064262,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES,UMLS ID:C4540327,,,,,neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,MONDO:0060596,,,neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,DOID:0070514,,OMIM ID:601819 | OMIM ID:617755 +BMGC_DS16746,BMG_DS064263,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5,UMLS ID:C4540331,,,,,erythrokeratodermia variabilis et progressiva 5,MONDO:0033015,,,erythrokeratodermia variabilis et progressiva 5,DOID:0080251,,OMIM ID:602765 | OMIM ID:617756 +BMGC_DS16747,BMG_DS064264,JOUBERT SYNDROME 32,UMLS ID:C4540342,,,,,Joubert syndrome 32,MONDO:0033309,,,Joubert syndrome 32,DOID:0080278,,OMIM ID:607035 | OMIM ID:617757 +BMGC_DS16748,BMG_DS064265,"MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION",UMLS ID:C4540345,,,,,"myopathy, centronuclear, 6, with fiber-type disproportion",MONDO:0054695,,,centronuclear myopathy 6 with fiber-type disproportion,DOID:0111221,,OMIM ID:617760 | OMIM ID:609479 +BMGC_DS16749,BMG_DS064266,JOUBERT SYNDROME 31,UMLS ID:C4540355,,,,,Joubert syndrome 31,MONDO:0033310,,,Joubert syndrome 31,DOID:0080277,,OMIM ID:617761 | OMIM ID:613446 +BMGC_DS16750,BMG_DS064267,Alkaline ceramidase 3 deficiency,UMLS ID:C4540358,Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) | Alkaline ceramidase 3 deficiency | ACER3-related early childhood-onset progressive leukodystrophy | Leukodystrophy due to alkaline ceramidase 3 deficiency | ACER3-related early childhood-onset progressive leucodystrophy | Leucodystrophy due to alkaline ceramidase 3 deficiency,SNOMEDCT ID:1237515001,,,alkaline ceramidase 3 deficiency,MONDO:0044718,,,,,,OMIM ID:617762 +BMGC_DS16751,BMG_DS064268,"SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES",UMLS ID:C4540367,,,,,retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,MONDO:0044634,,,"short stature, hearing loss, retinitis pigmentosa, and distinctive facies",DOID:0081175,,OMIM ID:617763 | OMIM ID:602238 +BMGC_DS16752,BMG_DS064270,"IMMUNODEFICIENCY, COMMON VARIABLE, 14",UMLS ID:C4540380,,,,,"immunodeficiency, common variable, 14",MONDO:0054691,,,common variable immunodeficiency 14,DOID:0081156,,OMIM ID:617765 | OMIM ID:615332 +BMGC_DS16753,BMG_DS064271,JOUBERT SYNDROME 33,UMLS ID:C4540389,,,,,Joubert syndrome 33,MONDO:0033311,,,Joubert syndrome 33,DOID:0080279,,OMIM ID:617767 | OMIM ID:607532 +BMGC_DS16754,BMG_DS064272,KLEEFSTRA SYNDROME 2,UMLS ID:C4540395,,,,,Kleefstra syndrome 2,MONDO:0054701,,,Kleefstra syndrome 2,DOID:0080598,,OMIM ID:606833 | OMIM ID:617768 +BMGC_DS16755,BMG_DS064273,Spinocerebellar ataxia type 45,UMLS ID:C4540400,Spinocerebellar ataxia type 45 (disorder) | Spinocerebellar ataxia type 45 | SCA45 - spinocerebellar ataxia type 45,SNOMEDCT ID:1279840000,,,spinocerebellar ataxia 45,MONDO:0033480,,,,,,OMIM ID:617769 +BMGC_DS16756,BMG_DS064274,Spinocerebellar ataxia type 46,UMLS ID:C4540404,SCA46 - spinocerebellar ataxia type 46 | Spinocerebellar ataxia type 46 (disorder) | Spinocerebellar ataxia type 46,SNOMEDCT ID:1279839002,,,spinocerebellar ataxia 46,MONDO:0033481,,,,,,OMIM ID:617770 +BMGC_DS16757,BMG_DS064275,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57,UMLS ID:C4540411,,,,,"developmental and epileptic encephalopathy, 57",MONDO:0033366,,,developmental and epileptic encephalopathy 57,DOID:0080284,,OMIM ID:610044 | OMIM ID:617771 +BMGC_DS16758,BMG_DS064276,,UMLS ID:C4540424,,,,,"intellectual disability, autosomal recessive 61",MONDO:0030915,,,,,,OMIM ID:617773 +BMGC_DS16759,BMG_DS064277,COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA,UMLS ID:C4540434,,,,,combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia,MONDO:0060611,,,,,,OMIM ID:617780 +BMGC_DS16760,BMG_DS064278,RETINITIS PIGMENTOSA 80,UMLS ID:C4540439,,,,,retinitis pigmentosa 80,MONDO:0054708,,,,,,OMIM ID:617781 | OMIM ID:614620 +BMGC_DS16761,BMG_DS064279,"NEPHROTIC SYNDROME, TYPE 16",UMLS ID:C4540453,,,,,nephrotic syndrome 16,MONDO:0033280,,,nephrotic syndrome type 16,DOID:0080272,,OMIM ID:617783 | OMIM ID:614610 +BMGC_DS16762,BMG_DS064280,,UMLS ID:C4540470,,,,,"intellectual disability, autosomal dominant 50",MONDO:0030916,,,,,,OMIM ID:617787 +BMGC_DS16763,BMG_DS064281,,UMLS ID:C4540474,,,,,"intellectual disability, autosomal dominant 51",MONDO:0030917,,,,,,OMIM ID:617788 +BMGC_DS16764,BMG_DS064282,,UMLS ID:C4540478,,,,,"intellectual disability, autosomal dominant 52",MONDO:0030918,,,,,,OMIM ID:617796 +BMGC_DS16765,BMG_DS064283,,UMLS ID:C4540481,,,,,"intellectual disability, autosomal dominant 53",MONDO:0030919,,,,,,OMIM ID:617798 +BMGC_DS16766,BMG_DS064284,,UMLS ID:C4540484,,,,,"intellectual disability, autosomal dominant 54",MONDO:0030920,,,,,,OMIM ID:617799 +BMGC_DS16767,BMG_DS064285,"MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4540488,,,,,"microcephaly 19, primary, autosomal recessive",MONDO:0054716,,,primary autosomal recessive microcephaly 19,DOID:0070281,,OMIM ID:617800 | OMIM ID:606990 +BMGC_DS16768,BMG_DS064286,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY",UMLS ID:C4540493,,,,,"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",MONDO:0060621,,,,,,OMIM ID:192150 | OMIM ID:617802 +BMGC_DS16769,BMG_DS064287,,UMLS ID:C4540496,,,,,neurodevelopmental disorder with severe motor impairment and absent language,MONDO:0060622,,,,,,OMIM ID:617804 +BMGC_DS16770,BMG_DS064288,,UMLS ID:C4540497,,,,,renal hypodysplasia/aplasia 3,MONDO:0024520,,,,,,OMIM ID:617805 +BMGC_DS16771,BMG_DS064289,"NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER",UMLS ID:C4540498,,,,,"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",MONDO:0060624,,,,,,OMIM ID:604198 | OMIM ID:617807 +BMGC_DS16772,BMG_DS064290,COFFIN-SIRIS SYNDROME 6,UMLS ID:C4540499,,,,,Coffin-Siris syndrome 6,MONDO:0033492,,,Coffin-Siris syndrome 6,DOID:0080297,,OMIM ID:617808 | OMIM ID:609539 +BMGC_DS16773,BMG_DS064291,,UMLS ID:C4540511,,,,,geleophysic dysplasia 3,MONDO:0054722,,,,,,OMIM ID:617809 +BMGC_DS16774,BMG_DS064292,"Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome",UMLS ID:C4540520,"Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome | Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome (disorder) | GPAA1-related biosynthesis defect | Glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect",SNOMEDCT ID:1217381009,,,glycosylphosphatidylinositol biosynthesis defect 15,MONDO:0060627,,,,,,OMIM ID:617810 +BMGC_DS16775,BMG_DS064293,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16,UMLS ID:C4540521,,,,,glycosylphosphatidylinositol biosynthesis defect 16,MONDO:0040500,,,glycosylphosphatidylinositol biosynthesis defect 16,DOID:0081223,,OMIM ID:601730 | OMIM ID:617816 +BMGC_DS16776,BMG_DS064294,GLUCOCORTICOID DEFICIENCY 5,UMLS ID:C4540522,,,,,glucocorticoid deficiency 5,MONDO:0040502,,,,,,OMIM ID:606448 | OMIM ID:617825 +BMGC_DS16777,BMG_DS064299,"SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS",UMLS ID:C4540542,,,,,,,,,,,,OMIM ID:155760 +BMGC_DS16778,BMG_DS064302,RENI SYNDROME,UMLS ID:C4540559,,,,,nephrotic syndrome 14,MONDO:0033203,,,nephrotic syndrome type 14,DOID:0080265,,OMIM ID:617575 | OMIM ID:603729 +BMGC_DS16779,BMG_DS064305,POLYCYSTIC KIDNEY DISEASE 4,UMLS ID:C4540575,,,,,polycystic kidney disease 4,MONDO:0033004,,,,,,OMIM ID:606702 | OMIM ID:263200 +BMGC_DS16780,BMG_DS064510,Disorder of neutrophil chemotaxis,UMLS ID:C4543735,Disorder of neutrophil chemotaxis (disorder) | Disorder of neutrophil chemotaxis,SNOMEDCT ID:735438000,,,,,,,,,, +BMGC_DS16781,BMG_DS064519,Chronic viral hepatitis D,UMLS ID:C4543747,Chronic infection caused by Hepatitis D virus (disorder) | Chronic viral hepatitis D | Chronic infection caused by Hepatitis D virus,SNOMEDCT ID:735451005,,,,,,,,,, +BMGC_DS16782,BMG_DS064618,Narcolepsy type 1,UMLS ID:C4543926,Narcolepsy type 1 (disorder) | Narcolepsy type 1,SNOMEDCT ID:735676003,,,,,,,,,, +BMGC_DS16783,BMG_DS064824,Chronic Primary Pain,UMLS ID:C4545041,,,,,,,Chronic Pain,MeSH ID:D059350,,,, +BMGC_DS16784,BMG_DS064898,Hemiparkinsonism hemiatrophy syndrome,UMLS ID:C4545231,Hemiparkinsonism hemiatrophy syndrome (disorder) | Hemiparkinsonism hemiatrophy syndrome,SNOMEDCT ID:737582007,,,hemiparkinsonism-hemiatrophy syndrome,MONDO:0017636,,,,,, +BMGC_DS16785,BMG_DS064942,,UMLS ID:C4545381,,,,,myeloid neoplasm associated with PDGFRA rearrangement,MONDO:0015689,,,,,, +BMGC_DS16786,BMG_DS064976,Congenital Zika Syndrome,UMLS ID:C4546023,,,,,Zika virus congenital syndrome,MONDO:0000890,Zika Virus Infection,MeSH ID:D000071243,Zika fever,DOID:0060478,, +BMGC_DS16787,BMG_DS065013,,UMLS ID:C4546092,,,,,congenital non-communicating hydrocephalus,MONDO:0017117,,,,,, +BMGC_DS16788,BMG_DS065225,Seckel syndrome 1,UMLS ID:C4551474,,,,,Seckel syndrome 1,MONDO:0008869,,MeSH ID:C537533,Seckel syndrome 1,DOID:0070007,,OMIM ID:210600 +BMGC_DS16789,BMG_DS065226,"ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1",UMLS ID:C4551475,,,,,autosomal dominant Robinow syndrome 1,MONDO:0024455,,,autosomal dominant Robinow syndrome 1,DOID:0060766,,OMIM ID:164975 | OMIM ID:180700 +BMGC_DS16790,BMG_DS065227,NEU-LAXOVA SYNDROME 1,UMLS ID:C4551478,,,,,Neu-Laxova syndrome 1,MONDO:0009736,,,Neu-Laxova syndrome 1,DOID:0080076,,OMIM ID:256520 | OMIM ID:606879 +BMGC_DS16791,BMG_DS065228,"Schwartz-Jampel Syndrome, Type 1",UMLS ID:C4551479,,,,,Schwartz-Jampel syndrome type 1,MONDO:0100435,Osteochondrodysplasias,MeSH ID:D010009,,,,OMIM ID:255800 +BMGC_DS16792,BMG_DS065229,FRASER SYNDROME 1,UMLS ID:C4551480,,,,,Fraser syndrome 1,MONDO:0054737,,,Fraser syndrome 1,DOID:0111405,,OMIM ID:607830 | OMIM ID:219000 +BMGC_DS16793,BMG_DS065230,TOWNES-BROCKS SYNDROME 1,UMLS ID:C4551481,,,,,Townes-Brocks syndrome 1,MONDO:0054581,,,,,,OMIM ID:107480 +BMGC_DS16794,BMG_DS065231,Adams-Oliver syndrome 1,UMLS ID:C4551482,,,,,Adams-Oliver syndrome 1,MONDO:0024506,,MeSH ID:C538225,,,,OMIM ID:100300 +BMGC_DS16795,BMG_DS065232,SCLEROSTEOSIS 1,UMLS ID:C4551483,,,,,sclerosteosis 1,MONDO:0010016,,,,,,OMIM ID:269500 +BMGC_DS16796,BMG_DS065233,"LEOPARD Syndrome, 1",UMLS ID:C4551484,,,,,LEOPARD syndrome 1,MONDO:0100082,LEOPARD Syndrome,MeSH ID:D044542,,,,OMIM ID:151100 +BMGC_DS16797,BMG_DS065234,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1,UMLS ID:C4551486,,,,,erythrokeratodermia variabilis et progressiva 1,MONDO:0033010,,,erythrokeratodermia variabilis et progressiva 1,DOID:0111195,,OMIM ID:133200 | OMIM ID:603324 +BMGC_DS16798,BMG_DS065235,,UMLS ID:C4551488,,,,,bifid uvula,MONDO:0008637,,,,,,OMIM ID:192100 +BMGC_DS16799,BMG_DS065236,,UMLS ID:C4551493,,,,,situs inversus,MONDO:0010029,,,,,, +BMGC_DS16800,BMG_DS065238,"Hypophosphatemic Rickets, Autosomal Recessive, 1",UMLS ID:C4551495,,,,,"hypophosphatemic rickets, autosomal recessive, 1",MONDO:0009430,,MeSH ID:C562792,,,,OMIM ID:241520 +BMGC_DS16801,BMG_DS065239,"Hyperuricemic Nephropathy, Familial Juvenile 1",UMLS ID:C4551496,,,,,familial juvenile hyperuricemic nephropathy type 1,MONDO:0008073,,MeSH ID:C537696,,,,OMIM ID:609886 | OMIM ID:162000 | OMIM ID:603860 +BMGC_DS16802,BMG_DS065242,"EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1",UMLS ID:C4551499,,,,,"Ehlers-Danlos syndrome, periodontal type 1",MONDO:0020684,,,Ehlers-Danlos syndrome periodontal type 1,DOID:0080986,,OMIM ID:130080 | OMIM ID:613785 +BMGC_DS16803,BMG_DS065243,"Amyloid Polyneuropathy, Iowa Type",UMLS ID:C4551500,,,,,"amyloidosis, hereditary systemic 3",MONDO:0971008,"Amyloid Neuropathies, Familial",MeSH ID:D028227,,,,OMIM ID:620657 +BMGC_DS16804,BMG_DS065244,"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1",UMLS ID:C4551501,,,,,"amyloidosis, primary localized cutaneous, 1",MONDO:0024522,,,primary localized cutaneous amyloidosis 1,DOID:0080930,,OMIM ID:105250 | OMIM ID:601743 +BMGC_DS16805,BMG_DS065245,HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1,UMLS ID:C4551502,,,,,hyperphosphatasia with intellectual disability syndrome 1,MONDO:0009398,,,hyperphosphatasia with impaired intellectual development syndrome 1,DOID:0070433,,OMIM ID:610274 | OMIM ID:239300 +BMGC_DS16806,BMG_DS065246,FANCONI RENOTUBULAR SYNDROME 1,UMLS ID:C4551503,,,,,Fanconi renotubular syndrome 1,MONDO:0024525,,,Fanconi renotubular syndrome 1,DOID:0080757,,OMIM ID:134600 | OMIM ID:602360 +BMGC_DS16807,BMG_DS065247,Oculocutaneous albinism type 1A,UMLS ID:C4551504,,,,,oculocutaneous albinism type 1A,MONDO:0008745,,MeSH ID:C537728,,,,OMIM ID:203100 +BMGC_DS16808,BMG_DS065248,Methylcrotonyl-CoA carboxylase deficiency,UMLS ID:C4551505,"Methylcrotonyl-CoA carboxylase deficiency | BMCC deficiency | MCC deficiency | beta-Methylcrotonylglycinuria, type 1 | 3-Methylcrotonyl-CoA carboxylase deficiency | Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | Methylcrotonyl-coenzyme A carboxylase deficiency",SNOMEDCT ID:13144005,,,3-methylcrotonyl-CoA carboxylase deficiency,MONDO:0018950,,,,,, +BMGC_DS16809,BMG_DS065249,Paroxysmal Nonkinesigenic Dyskinesia 1,UMLS ID:C4551506,,,,,paroxysmal nonkinesigenic dyskinesia 1,MONDO:0700089,,MeSH ID:C537181,,,,OMIM ID:118800 +BMGC_DS16810,BMG_DS065250,Dominant hereditary optic atrophy,UMLS ID:C4551508,Dominant hereditary optic atrophy | Dominant hereditary optic atrophy (disorder) | Autosomal dominant optic atrophy,SNOMEDCT ID:2065009,,,autosomal dominant optic atrophy,MONDO:0020250,,,,,, +BMGC_DS16811,BMG_DS065251,Jervell And Lange-Nielsen Syndrome 1,UMLS ID:C4551509,,,,,Jervell and Lange-Nielsen syndrome 1,MONDO:0024540,Jervell-Lange Nielsen Syndrome,MeSH ID:D029593,,,,OMIM ID:220400 +BMGC_DS16812,BMG_DS065252,CARPENTER SYNDROME 1,UMLS ID:C4551510,,,,,RAB23-related Carpenter syndrome,MONDO:0008710,,,,,,OMIM ID:201000 +BMGC_DS16813,BMG_DS065253,X-linked sideroblastic anemia,UMLS ID:C4551511,Hereditary sideroblastic anemia | Erythroid 5-aminolaevulinate synthetase deficiency | X-linked sideroblastic anaemia | X chromosome-linked sideroblastic anaemia | Hereditary sideroblastic anaemia | Erythroid 5-aminolevulinate synthetase deficiency | X chromosome-linked sideroblastic anemia | X-linked sideroblastic anemia | Hereditary sideroblastic anemia (disorder) | X chromosome-linked sideroblastic anemia | X chromosome-linked sideroblastic anaemia | X chromosome-linked sideroblastic anemia (disorder) | X-linked sideroblastic anemia | X-linked sideroblastic anaemia,SNOMEDCT ID:62677000 | SNOMEDCT ID:48983004,,,X-linked sideroblastic anemia 1,MONDO:0020721,,MeSH ID:C536761,,,,OMIM ID:300751 +BMGC_DS16814,BMG_DS065254,DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA,UMLS ID:C4551512,,,,,dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,MONDO:0008689,,,dehydrated hereditary stomatocytosis 1,DOID:0111576,,OMIM ID:194380 +BMGC_DS16815,BMG_DS065255,"Hemophagocytic Lymphohistiocytosis, Familial, 1",UMLS ID:C4551514,,,,,familial hemophagocytic lymphohistiocytosis type 1,MONDO:0009974,"Lymphohistiocytosis, Hemophagocytic",MeSH ID:D051359,,,,OMIM ID:267700 +BMGC_DS16816,BMG_DS065256,Chilblain lupus erythematosus,UMLS ID:C4551515,"Chilblain lupus erythematosus | Chilblain lupus erythematosus (disorder) | Sarcoidosis, lupus pernio type | Lupus pernio | Sarcoidosis, lupus pernio type (disorder)",SNOMEDCT ID:11361009 | SNOMEDCT ID:72470008 | SNOMEDCT ID:238928005,,,chilblain lupus,MONDO:0019557,,,,,, +BMGC_DS16817,BMG_DS065257,Abducens Nerve Palsy,UMLS ID:C4551519,,,,,abducens nerve palsy,MONDO:0007033,Abducens Nerve Diseases,MeSH ID:D020434,,,,OMIM ID:100200 +BMGC_DS16818,BMG_DS065258,Focal segmental glomerulosclerosis 1,UMLS ID:C4551527,,,,,focal segmental glomerulosclerosis 1,MONDO:0011303,,MeSH ID:C538457,,,,OMIM ID:603278 +BMGC_DS16819,BMG_DS065260,"EPILEPSY, HOT WATER, 1",UMLS ID:C4551550,,,,,"epilepsy, hot water, 1",MONDO:0024508,,,hot water epilepsy 1,DOID:0081106,,OMIM ID:613339 +BMGC_DS16820,BMG_DS065261,X-linked hereditary motor and sensory neuropathy,UMLS ID:C4551551,X-linked hereditary motor and sensory neuropathy | X-linked hereditary motor and sensory neuropathy (disorder) | X-linked Charcot-Marie-Tooth disease,SNOMEDCT ID:230552007,,,Charcot-Marie-Tooth disease type X,MONDO:0018994,,,,,, +BMGC_DS16821,BMG_DS065262,"CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1",UMLS ID:C4551552,,,,,"cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1",MONDO:0024542,,,"cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1",DOID:0070556,,OMIM ID:192977 | OMIM ID:224050 +BMGC_DS16822,BMG_DS065263,SPECIFIC GRANULE DEFICIENCY 1,UMLS ID:C4551556,,,,,specific granule deficiency 1,MONDO:0044207,,,,,,OMIM ID:245480 | OMIM ID:600749 +BMGC_DS16823,BMG_DS065264,IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1,UMLS ID:C4551557,,,,,immunodeficiency-centromeric instability-facial anomalies syndrome 1,MONDO:0009454,,,,,,OMIM ID:242860 | OMIM ID:602900 +BMGC_DS16824,BMG_DS065265,"Fibromatosis, Gingival, Type 1",UMLS ID:C4551558,,,,,"fibromatosis, gingival, 1",MONDO:0007609,,MeSH ID:C562884,,,,OMIM ID:135300 +BMGC_DS16825,BMG_DS065266,Senior-Loken Syndrome 1,UMLS ID:C4551559,,,,,Senior-Loken syndrome 1,MONDO:0009962,,MeSH ID:C537580,Senior-Loken syndrome,DOID:0050576,,OMIM ID:266900 +BMGC_DS16826,BMG_DS065267,"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1",UMLS ID:C4551562,,,,,"avascular necrosis of femoral head, primary, 1",MONDO:0054550,,,,,,OMIM ID:608805 +BMGC_DS16827,BMG_DS065268,,UMLS ID:C4551563,,,,,microcephaly,MONDO:0001149,,,,,, +BMGC_DS16828,BMG_DS065270,Joubert syndrome 1,UMLS ID:C4551568,,,,,Joubert syndrome 1,MONDO:0008944,,MeSH ID:C536293,,,,OMIM ID:213300 +BMGC_DS16829,BMG_DS065271,Cranioectodermal dysplasia,UMLS ID:C4551571,Cranioectodermal dysplasia | Sensenbrenner's syndrome | Cranioectodermal dysplasia (disorder) | Cranioectodermal dysplasia | Cranioectodermal dysplasia (disorder),SNOMEDCT ID:254093009 | SNOMEDCT ID:239034008,,,cranioectodermal dysplasia,MONDO:0009032,,,,,, +BMGC_DS16830,BMG_DS065272,"MYOFIBROMATOSIS, INFANTILE, 1",UMLS ID:C4551572,,,,,"myofibromatosis, infantile, 1",MONDO:0009227,,,,,,OMIM ID:228550 | OMIM ID:173410 +BMGC_DS16831,BMG_DS065273,UNCOMBABLE HAIR SYNDROME 1,UMLS ID:C4551573,,,,,uncombable hair syndrome 1,MONDO:0020736,,,,,,OMIM ID:606755 | OMIM ID:191480 +BMGC_DS16832,BMG_DS065274,Cerebral cortical atrophy,UMLS ID:C4551583,,,,,,,,,,,,OMIM ID:MTHU015450 +BMGC_DS16833,BMG_DS065275,Brain atrophy,UMLS ID:C4551584,,,,,,,,,,,,OMIM ID:MTHU005283 +BMGC_DS16834,BMG_DS065276,"ESOPHAGITIS, EOSINOPHILIC, 1",UMLS ID:C4551589,,,,,"esophagitis, eosinophilic, 1",MONDO:0012451,,,,,,OMIM ID:610247 +BMGC_DS16835,BMG_DS065277,Familial renal hypouricemia,UMLS ID:C4551590,Dalmatian hypouricaemia | Familial renal hypouricaemia | Dalmatian hypouricemia | Familial renal hypouricemia | Familial renal hypouricemia (disorder),SNOMEDCT ID:236478009,,,hereditary renal hypouricemia,MONDO:0009071,,,,,, +BMGC_DS16836,BMG_DS065278,"SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1",UMLS ID:C4551592,,,,,multiple benign circumferential skin creases on limbs 1,MONDO:0020738,,,congenital symmetric circumferential skin creases 1,DOID:0112242,,OMIM ID:156610 | OMIM ID:191130 +BMGC_DS16837,BMG_DS065280,"Biliary Cirrhosis, Primary, 1",UMLS ID:C4551595,,,,,primary biliary cholangitis 1,MONDO:0007193,"Liver Cirrhosis, Biliary",MeSH ID:D008105,,,,OMIM ID:109720 +BMGC_DS16838,BMG_DS065281,Noonan Syndrome 1,UMLS ID:C4551602,,,,,Noonan syndrome 1,MONDO:0008104,Noonan Syndrome,MeSH ID:D009634,,,,OMIM ID:163950 +BMGC_DS16839,BMG_DS065282,"EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1",UMLS ID:C4551623,,,,,"Ehlers-Danlos syndrome, arthrochalasia type",MONDO:0007525,,,Ehlers-Danlos syndrome arthrochalasia type 1,DOID:0080727,,OMIM ID:130060 | OMIM ID:120150 +BMGC_DS16840,BMG_DS065283,Idiopathic basal ganglia calcification 1,UMLS ID:C4551624,,,,,"basal ganglia calcification, idiopathic, 1 | bilateral striopallidodentate calcinosis",MONDO:0024538;MONDO:0008947,,MeSH ID:C536275,,,,OMIM ID:606656 | OMIM ID:213600 +BMGC_DS16841,BMG_DS065284,,UMLS ID:C4551625,,,,,leukonychia totalis,MONDO:0016557,,,,,, +BMGC_DS16842,BMG_DS065285,Granulocytopenic disorder,UMLS ID:C4551627,Granulocytopenic disorder (disorder) | Granulocytopenic disorder | Granulocytopenia,SNOMEDCT ID:417672002,,,,,,,,,, +BMGC_DS16843,BMG_DS065286,Ichthyosis Congenita I,UMLS ID:C4551630,,,,,autosomal recessive congenital ichthyosis 1,MONDO:0009441,"Ichthyosis, Lamellar",MeSH ID:D017490,,,,OMIM ID:242300 +BMGC_DS16844,BMG_DS065287,Recurrent pancreatitis,UMLS ID:C4551632,Recurrent pancreatitis | Recurrent pancreatitis (disorder) | Chronic pancreatitis | Chronic pancreatitis (disorder),SNOMEDCT ID:233870001 | SNOMEDCT ID:15974001,,,,,,,,,, +BMGC_DS16845,BMG_DS065291,"Erythrocytosis familial, 1",UMLS ID:C4551637,,,,,primary familial polycythemia due to EPO receptor mutation,MONDO:0007572,,MeSH ID:C536842,,,,OMIM ID:133100 +BMGC_DS16846,BMG_DS065292,Romano-Ward Syndrome,UMLS ID:C4551647,,,,,long QT syndrome 1,MONDO:0100316,Romano-Ward Syndrome,MeSH ID:D029597,,,,OMIM ID:192500 +BMGC_DS16847,BMG_DS065293,,UMLS ID:C4551649,,,,,developmental dysplasia of the hip,MONDO:0000158,,,,,, +BMGC_DS16848,BMG_DS065294,Esophageal Stricture,UMLS ID:C4551650,,,,,,,Esophageal Stenosis,MeSH ID:D004940,,,, +BMGC_DS16849,BMG_DS065296,Intraretinal hemorrhage,UMLS ID:C4551659,Retinal hemorrhage | Retinal haemorrhage | Retinal hemorrhage (disorder) | Retinal haemorrhages | Retinal hemorrhages | Intraretinal haemorrhage | Intraretinal hemorrhage,SNOMEDCT ID:28998008,,,,,,,,,, +BMGC_DS16850,BMG_DS065297,Refractory sideroblastic anemia,UMLS ID:C4551661,Sideroblastic anemia | Primary sideroblastic anemia | Refractory sideroblastic anemia | Sideroachrestic anemia | Primary sideroblastic anaemia | Sideroachrestic anaemia | Refractory sideroblastic anaemia | Sideroblastic anaemia | Sideroblastic anemia (disorder),SNOMEDCT ID:41841004,,,,,,,,,,OMIM ID:MTHU038362 +BMGC_DS16851,BMG_DS065299,"Keratoderma, Palmoplantar",UMLS ID:C4551675,,,,,,,"Keratoderma, Palmoplantar",MeSH ID:D007645,,,, +BMGC_DS16852,BMG_DS065301,"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1",UMLS ID:C4551679,,,,,"hypertrophic osteoarthropathy, primary, autosomal recessive, 1",MONDO:0024546,,,,,,OMIM ID:259100 | OMIM ID:601688 +BMGC_DS16853,BMG_DS065303,"Periodontitis, Aggressive, 1",UMLS ID:C4551681,,,,,"periodontitis, aggressive 1",MONDO:0008226,Aggressive Periodontitis,MeSH ID:D010520,,,,OMIM ID:170650 +BMGC_DS16854,BMG_DS065304,,UMLS ID:C4551683,,,,,adrenal gland pheochromocytoma,MONDO:0004974,,,,,, +BMGC_DS16855,BMG_DS065307,Sleep-Disordered Breathing,UMLS ID:C4551689,,,,,,,Sleep Apnea Syndromes,MeSH ID:D012891,,,, +BMGC_DS16856,BMG_DS065308,,UMLS ID:C4551691,,,,,urethral stricture,MONDO:0002127,,,,,, +BMGC_DS16857,BMG_DS065309,Wolfram Syndrome 1,UMLS ID:C4551693,,,,,Wolfram syndrome 1,MONDO:0009101,Wolfram Syndrome,MeSH ID:D014929,,,,OMIM ID:222300 +BMGC_DS16858,BMG_DS065310,Branchiootorenal Syndrome 1,UMLS ID:C4551702,,,,,branchiootorenal syndrome 1,MONDO:0007236,Branchio-Oto-Renal Syndrome,MeSH ID:D019280,,,,OMIM ID:113650 +BMGC_DS16859,BMG_DS065311,Rod-Cone Dystrophy,UMLS ID:C4551714,,,,,,,Cone-Rod Dystrophies,MeSH ID:D000071700,,,, +BMGC_DS16860,BMG_DS065312,Pigmentary retinopathy,UMLS ID:C4551715,,,,,,,,,,,,OMIM ID:MTHU000153 +BMGC_DS16861,BMG_DS065313,Primary Ciliary Dyskinesia,UMLS ID:C4551720,,,,,,,Ciliary Motility Disorders,MeSH ID:D002925,,,, +BMGC_DS16862,BMG_DS065314,PERRAULT SYNDROME 1,UMLS ID:C4551721,,,,,Perrault syndrome 1,MONDO:0009300,,,,,,OMIM ID:601860 | OMIM ID:233400 +BMGC_DS16863,BMG_DS065315,Esodeviation,UMLS ID:C4551734,,,,,,,Esotropia,MeSH ID:D004948,,,, +BMGC_DS16864,BMG_DS065317,"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1",UMLS ID:C4551768,,,,,"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1",MONDO:0000914,,,,,,OMIM ID:125310 | OMIM ID:600276 +BMGC_DS16865,BMG_DS065318,"Seizures, Benign Familial Infantile, 1",UMLS ID:C4551769,,,,,benign familial neonatal-infantile seizures 1,MONDO:0042499,"Epilepsy, Benign Neonatal",MeSH ID:D020936,,,,OMIM ID:601764 +BMGC_DS16866,BMG_DS065319,Kleefstra syndrome,UMLS ID:C4551771,Kleefstra syndrome (disorder) | Kleefstra syndrome,SNOMEDCT ID:724207001,,,Kleefstra syndrome,MONDO:0012455,,,,,, +BMGC_DS16867,BMG_DS065320,GALLOWAY-MOWAT SYNDROME 1,UMLS ID:C4551772,,,,,Galloway-Mowat syndrome 1,MONDO:0033005,,,Galloway-Mowat syndrome 1,DOID:0060364,,OMIM ID:251300 | OMIM ID:616144 +BMGC_DS16868,BMG_DS065321,ZIMMERMANN-LABAND SYNDROME 1,UMLS ID:C4551773,,,,,Zimmermann-Laband syndrome 1,MONDO:0024526,,,,,,OMIM ID:603305 | OMIM ID:135500 +BMGC_DS16869,BMG_DS065322,,UMLS ID:C4551774,,,,,Feingold syndrome type 1,MONDO:0008115,,,,,,OMIM ID:164280 +BMGC_DS16870,BMG_DS065323,"Knobloch Syndrome, Type I",UMLS ID:C4551775,,,,,Knobloch syndrome 1,MONDO:0800167,,MeSH ID:C537209,,,,OMIM ID:267750 +BMGC_DS16871,BMG_DS065324,RITSCHER-SCHINZEL SYNDROME 1,UMLS ID:C4551776,,,,,Ritscher-Schinzel syndrome 1,MONDO:0009073,,,Ritscher-Schinzel syndrome 1,DOID:0060571,,OMIM ID:220210 | OMIM ID:610657 +BMGC_DS16872,BMG_DS065326,Brugada Syndrome 1,UMLS ID:C4551804,,,,,Brugada syndrome 1,MONDO:0011001,Brugada Syndrome,MeSH ID:D053840,,,,OMIM ID:601144 +BMGC_DS16873,BMG_DS065327,Oguchi Disease 1,UMLS ID:C4551824,,,,,Oguchi disease-1,MONDO:0009775,,MeSH ID:C537743,,,,OMIM ID:258100 +BMGC_DS16874,BMG_DS065328,Megaloblastic Anemia 1,UMLS ID:C4551825,,,,,Imerslund-Grasbeck syndrome,MONDO:0009853,,MeSH ID:C538556,,,, +BMGC_DS16875,BMG_DS065329,Deafness-symphalangism syndrome of Herrmann,UMLS ID:C4551826,,,,,,,,MeSH ID:C536943,,,, +BMGC_DS16876,BMG_DS065330,Hereditary progressive muscular dystrophy,UMLS ID:C4551827,Hereditary progressive muscular dystrophy | Hereditary progressive muscular dystrophy (disorder) | Muscular dystrophy | MD - Muscular dystrophy | Progressive muscular dystrophy | PMD - Progressive muscular dystrophy | Muscular dystrophy (disorder),SNOMEDCT ID:193225000 | SNOMEDCT ID:44292004 | SNOMEDCT ID:73297009,,,progressive muscular dystrophy,MONDO:0016106,,,,,, +BMGC_DS16877,BMG_DS065331,Median Nerve Entrapment,UMLS ID:C4551829,,,,,,,Median Neuropathy,MeSH ID:D020423,,,, +BMGC_DS16878,BMG_DS065333,Cornelia de Lange Syndrome 1,UMLS ID:C4551851,,,,,Cornelia de Lange syndrome 1,MONDO:0007387,De Lange Syndrome,MeSH ID:D003635,,,,OMIM ID:122470 +BMGC_DS16879,BMG_DS065334,HYPOPLASTIC LEFT HEART SYNDROME 1,UMLS ID:C4551854,,,,,hypoplastic left heart syndrome 1,MONDO:0009433,,,,,,OMIM ID:241550 +BMGC_DS16880,BMG_DS065335,Asphyxiating Thoracic Dystrophy 1,UMLS ID:C4551856,,,,,asphyxiating thoracic dystrophy 1,MONDO:0008831,,MeSH ID:C537571,,,,OMIM ID:208500 +BMGC_DS16881,BMG_DS065336,Vesicoureteral Reflux 1,UMLS ID:C4551858,,,,,vesicoureteral reflux 1,MONDO:0008653,Vesico-Ureteral Reflux,MeSH ID:D014718,,,,OMIM ID:193000 +BMGC_DS16882,BMG_DS065337,RUBINSTEIN-TAYBI SYNDROME 1,UMLS ID:C4551859,,,,,Rubinstein-Taybi syndrome due to CREBBP mutations,MONDO:0008393,,,,,,OMIM ID:180849 | OMIM ID:600140 +BMGC_DS16883,BMG_DS065338,Ullrich congenital muscular dystrophy,UMLS ID:C4551860,Congenita hypotonic - sclerotic muscular dystrophy | Ullrich congenital muscular dystrophy | Ullrich congenital muscular dystrophy (disorder),SNOMEDCT ID:240062007,,,Ullrich congenital muscular dystrophy,MONDO:0000355,,,,,, +BMGC_DS16884,BMG_DS065339,"Telangiectasia, Hereditary Hemorrhagic, Type 1",UMLS ID:C4551861,,,,,"telangiectasia, hereditary hemorrhagic, type 1",MONDO:0008535,"Telangiectasia, Hereditary Hemorrhagic",MeSH ID:D013683,,,,OMIM ID:187300 +BMGC_DS16885,BMG_DS065340,"Ophthalmoplegia, Progressive Supranuclear",UMLS ID:C4551862,,,,,,,"Supranuclear Palsy, Progressive",MeSH ID:D013494,,,, +BMGC_DS16886,BMG_DS065341,"Supranuclear Palsy, Progressive, 1",UMLS ID:C4551863,,,,,"supranuclear palsy, progressive, 1",MONDO:0010997,"Supranuclear Palsy, Progressive",MeSH ID:D013494,,,,OMIM ID:601104 +BMGC_DS16887,BMG_DS065342,VAN DER WOUDE SYNDROME 1,UMLS ID:C4551864,,,,,van der Woude syndrome 1,MONDO:0007333,,,,,,OMIM ID:119300 | OMIM ID:607199 +BMGC_DS16888,BMG_DS065343,"Choroidal Dystrophy, Central Areolar 1",UMLS ID:C4551884,,,,,"choroidal dystrophy, central areolar, 1",MONDO:0024539,,MeSH ID:C535358,,,,OMIM ID:215500 +BMGC_DS16889,BMG_DS065345,Familial Cold Autoinflammatory Syndrome 1,UMLS ID:C4551895,,,,,familial cold autoinflammatory syndrome 1,MONDO:0007349,Cryopyrin-Associated Periodic Syndromes,MeSH ID:D056587,,,,OMIM ID:120100 +BMGC_DS16890,BMG_DS065346,"Cholestasis, progressive familial intrahepatic 1",UMLS ID:C4551898,,,,,progressive familial intrahepatic cholestasis type 1,MONDO:0008892,,MeSH ID:C535933,progressive familial intrahepatic cholestasis 1,DOID:0070226,,OMIM ID:211600 +BMGC_DS16891,BMG_DS065347,Summerskill syndrome,UMLS ID:C4551899,,,,,benign recurrent intrahepatic cholestasis type 1,MONDO:0009469,,MeSH ID:C535933,progressive familial intrahepatic cholestasis 1,DOID:0070226,,OMIM ID:243300 +BMGC_DS16892,BMG_DS065348,OTOSCLEROSIS 1,UMLS ID:C4551901,,,,,otosclerosis 1,MONDO:0008164,,,otosclerosis 1,DOID:0060920,,OMIM ID:166800 +BMGC_DS16893,BMG_DS065349,"Craniosynostosis, Type 1",UMLS ID:C4551902,,,,,TWIST1-related craniosynostosis,MONDO:0007399,Craniosynostoses,MeSH ID:D003398,,,,OMIM ID:123100 +BMGC_DS16894,BMG_DS065350,Total anomalous pulmonary venous return,UMLS ID:C4551903,Total anomalous pulmonary venous return | Total anomalous pulmonary venous return (disorder) | Total anomalous pulmonary venous connection | TAPVC - total anomalous pulmonary venous connection | TAPVD - total anomalous pulmonary venous drainage | TAPVR - total anomalous pulmonary venous return,SNOMEDCT ID:111323005,,,congenital total pulmonary venous return anomaly,MONDO:0007130,,,,,,OMIM ID:MTHU019108 | OMIM ID:106700 +BMGC_DS16895,BMG_DS065352,"Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus",UMLS ID:C4551906,,,,,primary ciliary dyskinesia 1,MONDO:0009484,Kartagener Syndrome,MeSH ID:D007619,Kartagener syndrome,DOID:0050144,,OMIM ID:244400 +BMGC_DS16896,BMG_DS065353,Acute Inflammatory Demyelinating Polyneuropathy,UMLS ID:C4551910,,,,,acute inflammatory demyelinating polyradiculoneuropathy,MONDO:0020347,Guillain-Barre Syndrome,MeSH ID:D020275,,,, +BMGC_DS16897,BMG_DS065355,VAN MALDERGEM SYNDROME 1,UMLS ID:C4551950,,,,,van Maldergem syndrome 1,MONDO:0011070,,,Van Maldergem syndrome 1,DOID:0080585,,OMIM ID:603057 | OMIM ID:601390 +BMGC_DS16898,BMG_DS065356,,UMLS ID:C4551951,,,,,inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1,MONDO:0008178,,,,,,OMIM ID:167320 +BMGC_DS16899,BMG_DS065357,"Myopathy, Centronuclear, 1",UMLS ID:C4551952,,,,,autosomal dominant centronuclear myopathy,MONDO:0008048,"Myopathies, Structural, Congenital",MeSH ID:D020914,,,,OMIM ID:160150 | OMIM ID:614408 +BMGC_DS16900,BMG_DS065358,"MACULAR DYSTROPHY, VITELLIFORM, 1",UMLS ID:C4551953,,,,,vitelliform macular dystrophy 1,MONDO:0007933,,,,,,OMIM ID:153840 +BMGC_DS16901,BMG_DS065359,HYPEREKPLEXIA 1,UMLS ID:C4551954,,,,,hyperekplexia 1,MONDO:0007868,,,,,,OMIM ID:149400 +BMGC_DS16902,BMG_DS065360,"Loeys-Dietz Syndrome, Type 1a",UMLS ID:C4551955,,,,,Loeys-Dietz syndrome 1,MONDO:0012212,Loeys-Dietz Syndrome,MeSH ID:D055947,,,,OMIM ID:609192 +BMGC_DS16903,BMG_DS065361,,UMLS ID:C4551957,,,,,"epilepsy, familial temporal lobe, 1",MONDO:0700090,,,,,,OMIM ID:600512 +BMGC_DS16904,BMG_DS065362,"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1",UMLS ID:C4551958,,,,,"myopathy, lactic acidosis, and sideroblastic anemia 1",MONDO:0024553,,,"myopathy, lactic acidosis, and sideroblastic anemia 1",DOID:0111185,,OMIM ID:600462 | OMIM ID:608109 +BMGC_DS16905,BMG_DS065363,ATRIAL STANDSTILL 1,UMLS ID:C4551959,,,,,atrial standstill 1,MONDO:0007171,,,atrial standstill 1,DOID:0080662,,OMIM ID:108770 +BMGC_DS16906,BMG_DS065364,"Sertoli Cell-Only Syndrome, Type I",UMLS ID:C4551960,,,,,"spermatogenic failure, Y-linked, 1",MONDO:0010763,,MeSH ID:C537587,,,,OMIM ID:400042 +BMGC_DS16907,BMG_DS065365,,UMLS ID:C4551961,,,,,familial isolated hyperparathyroidism,MONDO:0015027,,,,,, +BMGC_DS16908,BMG_DS065366,"ACNE INVERSA, FAMILIAL, 1",UMLS ID:C4551962,,,,,"acne inversa, familial, 1",MONDO:0007728,,,,,,OMIM ID:142690 | OMIM ID:605254 +BMGC_DS16909,BMG_DS065367,"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1",UMLS ID:C4551964,,,,,"gaze palsy, familial horizontal, with progressive scoliosis 1",MONDO:0020790,,,,,,OMIM ID:607313 | OMIM ID:608630 +BMGC_DS16910,BMG_DS065368,ANAUXETIC DYSPLASIA 1,UMLS ID:C4551965,,,,,anauxetic dysplasia 1,MONDO:0054560,,,anauxetic dysplasia 1,DOID:0050640,,OMIM ID:157660 | OMIM ID:607095 +BMGC_DS16911,BMG_DS065369,GLUT1 DEFICIENCY SYNDROME 1,UMLS ID:C4551966,,,,,encephalopathy due to GLUT1 deficiency,MONDO:0011724,,,glucose transporter type 1 deficiency syndrome 1,DOID:0070561,,OMIM ID:138140 | OMIM ID:606777 +BMGC_DS16912,BMG_DS065370,B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY,UMLS ID:C4551967,,,,,BENTA disease,MONDO:0014645,,,,,,OMIM ID:616452 | OMIM ID:607210 +BMGC_DS16913,BMG_DS065371,"Lissencephaly, X-Linked, 1",UMLS ID:C4551968,,,,,lissencephaly type 1 due to doublecortin gene mutation,MONDO:0010239,Classical Lissencephalies and Subcortical Band Heterotopias,MeSH ID:D054221,chromosome 17p13.1 deletion syndrome,DOID:0060402,,OMIM ID:300067 +BMGC_DS16914,BMG_DS065372,Bilateral Periventricular Nodular Heterotopia,UMLS ID:C4551969,,,,,,,Periventricular Nodular Heterotopia,MeSH ID:D054091,,,, +BMGC_DS16915,BMG_DS065373,"Marble Bones, Autosomal Recessive",UMLS ID:C4551971,,,,,,,,MeSH ID:C564915,,,, +BMGC_DS16916,BMG_DS065374,Mosaic variegated aneuploidy syndrome,UMLS ID:C4551972,Mosaic variegated aneuploidy syndrome (disorder) | Mosaic variegated aneuploidy syndrome,SNOMEDCT ID:700056005,,,mosaic variegated aneuploidy syndrome,MONDO:0000141,,,,,, +BMGC_DS16917,BMG_DS065375,Miyoshi Muscular Dystrophy 1,UMLS ID:C4551973,,,,,Miyoshi muscular dystrophy 1,MONDO:0024545,,MeSH ID:C537480,Miyoshi muscular dystrophy,DOID:0070198,,OMIM ID:254130 +BMGC_DS16918,BMG_DS065376,"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1",UMLS ID:C4551974,,,,,"dyskeratosis congenita, autosomal dominant 1",MONDO:0007485,,,autosomal dominant dyskeratosis congenita 1,DOID:0070014,,OMIM ID:127550 | OMIM ID:602322 +BMGC_DS16919,BMG_DS065377,RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1,UMLS ID:C4551975,,,,,radioulnar synostosis with amegakaryocytic thrombocytopenia 1,MONDO:0024558,,,,,,OMIM ID:605432 | OMIM ID:142958 +BMGC_DS16920,BMG_DS065378,HYPOTRICHOSIS 1,UMLS ID:C4551976,,,,,hypotrichosis 1,MONDO:0011549,,,hypotrichosis 1,DOID:0110698,,OMIM ID:605389 | OMIM ID:607479 +BMGC_DS16921,BMG_DS065380,HEIMLER SYNDROME 1,UMLS ID:C4551980,,,,,,,,,Heimler syndrome 1,DOID:0080623,,OMIM ID:234580 | OMIM ID:602136 +BMGC_DS16922,BMG_DS065381,Familial Multiple Coagulation Factor Deficiency I,UMLS ID:C4551981,,,,,"factor V and factor VIII, combined deficiency of, type 1",MONDO:0009206,,MeSH ID:C565577,,,,OMIM ID:227300 +BMGC_DS16923,BMG_DS065382,TRICHOHEPATOENTERIC SYNDROME 1,UMLS ID:C4551982,,,,,trichohepatoenteric syndrome 1,MONDO:0024541,,,trichohepatoenteric syndrome 1,DOID:0111415,,OMIM ID:222470 | OMIM ID:614589 +BMGC_DS16924,BMG_DS065383,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1",UMLS ID:C4551983,,,,,"epilepsy, familial focal, with variable foci 1",MONDO:0024556,,,familial focal epilepsy with variable foci 1,DOID:0081421,,OMIM ID:604364 | OMIM ID:614191 +BMGC_DS16925,BMG_DS065384,Arthrogryposis with renal dysfunction and cholestasis syndrome,UMLS ID:C4551984,"Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) | Arthrogryposis with renal dysfunction and cholestasis syndrome | ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome",SNOMEDCT ID:720513002,,,arthrogryposis-renal dysfunction-cholestasis syndrome,MONDO:0017123,,,,,, +BMGC_DS16926,BMG_DS065385,"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1",UMLS ID:C4551985,,,,,"arterial calcification, generalized, of infancy, 1",MONDO:0008817,,,,,,OMIM ID:173335 | OMIM ID:208000 +BMGC_DS16927,BMG_DS065386,AMR Syndrome,UMLS ID:C4551986,,,,,,,,MeSH ID:C565965,,,, +BMGC_DS16928,BMG_DS065387,Acrofrontofacionasal Dysostosis 1,UMLS ID:C4551987,,,,,acrofrontofacionasal dysostosis 1,MONDO:0100044,,MeSH ID:C538186,,,,OMIM ID:201180 +BMGC_DS16929,BMG_DS065388,BLEPHAROCHEILODONTIC SYNDROME 1,UMLS ID:C4551988,,,,,blepharocheilodontic syndrome 1,MONDO:0054740,,,blepharocheilodontic syndrome 1,DOID:0080345,,OMIM ID:119580 | OMIM ID:192090 +BMGC_DS16930,BMG_DS065390,"Hypobetalipoproteinemia, Familial, 1",UMLS ID:C4551990,,,,,familial hypobetalipoproteinemia 1,MONDO:0014252,,MeSH ID:C566267,,,,OMIM ID:615558 +BMGC_DS16931,BMG_DS065391,ANTERIOR SEGMENT DYSGENESIS 1,UMLS ID:C4551992,,,,,anterior segment dysgenesis 1,MONDO:0007138,,,anterior segment dysgenesis 1,DOID:0080606,,OMIM ID:107250 +BMGC_DS16932,BMG_DS065392,"Amyotrophic Lateral Sclerosis, Familial",UMLS ID:C4551993,,,,,familial amyotrophic lateral sclerosis,MONDO:0005144,,MeSH ID:C531617,,,, +BMGC_DS16933,BMG_DS065393,Mitochondrial DNA Depletion Syndrome 1,UMLS ID:C4551995,,,,,mitochondrial DNA depletion syndrome 1,MONDO:0011283,,MeSH ID:C536350,mitochondrial DNA depletion syndrome 8b | mitochondrial DNA depletion syndrome 8a | mitochondrial DNA depletion syndrome 1,DOID:0080127;DOID:0070331;DOID:0080119,,OMIM ID:603041 +BMGC_DS16934,BMG_DS065394,Auriculocondylar syndrome 1,UMLS ID:C4551996,,,,,auriculocondylar syndrome 1,MONDO:0011234,,MeSH ID:C538270,,,,OMIM ID:602483 +BMGC_DS16935,BMG_DS065395,"Porencephaly, Type 1, Autosomal Dominant",UMLS ID:C4551998,,,,,brain small vessel disease 1 with or without ocular anomalies,MONDO:0008289,Porencephaly,MeSH ID:D065708,,,,OMIM ID:175780 | OMIM ID:607595 +BMGC_DS16936,BMG_DS065396,"MACULAR DYSTROPHY, PATTERNED, 1",UMLS ID:C4551999,,,,,patterned macular dystrophy 1,MONDO:0008210,,,patterned macular dystrophy 1,DOID:0060866,,OMIM ID:169150 | OMIM ID:179605 +BMGC_DS16937,BMG_DS065397,Episodic Kinesigenic Dyskinesia 1,UMLS ID:C4552000,,,,,episodic kinesigenic dyskinesia 1,MONDO:0100352,,MeSH ID:C537180,,,,OMIM ID:128200 +BMGC_DS16938,BMG_DS065398,MEIER-GORLIN SYNDROME 1,UMLS ID:C4552001,,,,,Meier-Gorlin syndrome 1,MONDO:0009143,,,Meier-Gorlin syndrome 1,DOID:0080512,,OMIM ID:224690 | OMIM ID:601902 +BMGC_DS16939,BMG_DS065399,WEILL-MARCHESANI SYNDROME 1,UMLS ID:C4552002,,,,,Weill-Marchesani syndrome 1,MONDO:0010194,,,,,,OMIM ID:277600 | OMIM ID:608990 +BMGC_DS16940,BMG_DS065400,Ehlers-Danlos syndrome progeroid type,UMLS ID:C4552003,Ehlers-Danlos syndrome progeroid type (disorder) | Ehlers-Danlos syndrome progeroid type | Defective biosynthesis of proteodermatan sulfate | Defective biosynthesis of proteodermatan sulphate | Galactosyltransferase I deficiency | Xylosylprotein 4-beta-galactosyltransferase deficiency | B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome),SNOMEDCT ID:720861000,,,"Ehlers-Danlos syndrome, spondylodysplastic type, 1",MONDO:0020682,,,,,,OMIM ID:130070 +BMGC_DS16941,BMG_DS065401,Distal Myopathy 1,UMLS ID:C4552004,,,,,MYH7-related skeletal myopathy,MONDO:0008050,Distal Myopathies,MeSH ID:D049310,,,,OMIM ID:160500 +BMGC_DS16942,BMG_DS065402,Gonadotropin deficiency,UMLS ID:C4552011,,,,,,,,,,,,OMIM ID:MTHU037332 +BMGC_DS16943,BMG_DS065404,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1,UMLS ID:C4552029,,,,,cerebroretinal microangiopathy with calcifications and cysts 1,MONDO:0024564,,,,,,OMIM ID:612199 | OMIM ID:613129 +BMGC_DS16944,BMG_DS065405,"Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus",UMLS ID:C4552030,,,,,,,,MeSH ID:C567504,,,, +BMGC_DS16945,BMG_DS065406,Cortical Dysplasia-Focal Epilepsy Syndrome,UMLS ID:C4552043,,,,,,,,MeSH ID:C567657,cortical dysplasia-focal epilepsy syndrome,DOID:0090130,, +BMGC_DS16946,BMG_DS065407,ABDOMINAL OBESITY-METABOLIC SYNDROME 1,UMLS ID:C4552048,,,,,metabolic syndrome X,MONDO:0011565,,,,,,OMIM ID:605552 +BMGC_DS16947,BMG_DS065408,"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1",UMLS ID:C4552049,,,,,"palmoplantar keratoderma, nonepidermolytic, focal 1",MONDO:0013073,,,focal nonepidermolytic palmoplantar keratoderma 1,DOID:0111709,,OMIM ID:148067 | OMIM ID:613000 +BMGC_DS16948,BMG_DS065409,"Pulmonary Hypertension, Primary, 1",UMLS ID:C4552070,,,,,"pulmonary hypertension, primary, 1",MONDO:0024533,Familial Primary Pulmonary Hypertension,MeSH ID:D065627,,,,OMIM ID:178600 +BMGC_DS16949,BMG_DS065410,Infantile Epileptic-Dyskinetic Encephalopathy,UMLS ID:C4552072,,,,,infantile epileptic-dyskinetic encephalopathy,MONDO:0018226,,MeSH ID:C567924,,,, +BMGC_DS16950,BMG_DS065411,PSEUDO-TORCH SYNDROME 1,UMLS ID:C4552078,,,,,pseudo-TORCH syndrome 1,MONDO:0020789,,,pseudo-TORCH syndrome 1,DOID:0050656,,OMIM ID:251290 | OMIM ID:602876 +BMGC_DS16951,BMG_DS065412,Premature Ovarian Failure 1,UMLS ID:C4552079,,,,,premature ovarian failure 1,MONDO:0010706,Primary Ovarian Insufficiency,MeSH ID:D016649,,,,OMIM ID:311360 +BMGC_DS16952,BMG_DS065413,"HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME",UMLS ID:C4552089,,,,,,,,,autosomal dominant hypocalcemia 1,DOID:0090107,,OMIM ID:601198 | OMIM ID:601199 +BMGC_DS16953,BMG_DS065414,"Polyarthritis, Juvenile, Rheumatoid Factor Negative",UMLS ID:C4552091,,,,,,,"Arthritis, Juvenile",MeSH ID:D001171,,,, +BMGC_DS16954,BMG_DS065415,Dowling-Degos disease 1,UMLS ID:C4552092,,,,,Dowling-Degos disease 1,MONDO:0024534,,MeSH ID:C562924,,,,OMIM ID:179850 +BMGC_DS16955,BMG_DS065416,Nevus Sebaceus of Jadassohn,UMLS ID:C4552097,,,,,linear nevus sebaceous syndrome,MONDO:0008097,"Nevus, Sebaceous of Jadassohn",MeSH ID:D054000,,,,OMIM ID:163200 +BMGC_DS16956,BMG_DS065417,Lynch Syndrome,UMLS ID:C4552100,,,,,Lynch syndrome,MONDO:0005835,"Colorectal Neoplasms, Hereditary Nonpolyposis",MeSH ID:D003123,Lynch syndrome,DOID:3883,, +BMGC_DS16957,BMG_DS065420,Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency,UMLS ID:C4552294,Hereditary angioedema with C1Inh (C1 esterase inhibitor) deficiency | Hereditary angioedema with C1 esterase inhibitor deficiency | Hereditary angioedema with C1 esterase inhibitor deficiency (disorder) | HAE (hereditary angioedema) with C1Inh (C1 esterase inhibitor) deficiency | Hereditary angioneurotic oedema with C1 inhibitor deficiency | Hereditary angioneurotic edema with C1 inhibitor deficiency,SNOMEDCT ID:1230015008,,,hereditary angioedema with C1Inh deficiency,MONDO:0033946,,,,,,OMIM ID:106100 +BMGC_DS16958,BMG_DS065423,TAFRO syndrome,UMLS ID:C4552543,"Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome (disorder) | TAFRO syndrome | TAFRO (thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly) syndrome | Thrombocytopenia, anasarca, fever, renal insufficiency, organomegaly syndrome",SNOMEDCT ID:1187615007,,,Castleman-Kojima disease,MONDO:0018702,,MeSH ID:C537372,,,, +BMGC_DS16959,BMG_DS065438,"Epilepsy, Minor",UMLS ID:C4552765,,,,,,,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy,DOID:0070309,, +BMGC_DS16960,BMG_DS065441,Cystic Echinococcosis,UMLS ID:C4553297,,,,,cystic echinococcosis,MONDO:0018408,Echinococcosis,MeSH ID:D004443,,,, +BMGC_DS16961,BMG_DS065445,Infantile Obesity,UMLS ID:C4553478,,,,,,,Pediatric Obesity,MeSH ID:D063766,,,, +BMGC_DS16962,BMG_DS065449,Absence Seizure Disorder,UMLS ID:C4553705,,,,,,,"Epilepsy, Absence",MeSH ID:D004832,absence epilepsy,DOID:0070309,, +BMGC_DS16963,BMG_DS065452,"Carney complex, trismus, pseudocamptodactyly syndrome",UMLS ID:C4553889,"Carney complex, trismus, pseudocamptodactyly syndrome | Carney complex variant | Carney complex, trismus, pseudocamptodactyly syndrome (disorder)",SNOMEDCT ID:766881008,,,,,,,,,, +BMGC_DS16964,BMG_DS065453,,UMLS ID:C4553954,,,,,specific language disorder,MONDO:0016226,,,,,, +BMGC_DS16965,BMG_DS065454,Common Peroneal Nerve Entrapment,UMLS ID:C4554052,,,,,,,Peroneal Neuropathies,MeSH ID:D020427,,,, +BMGC_DS16966,BMG_DS065455,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,UMLS ID:C4554120,Leukoencephalopathy with mild cerebellar ataxia and white matter edema | CLCN2-related leukoencephalopathy | Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder) | Leukoencephalopathy with ataxia | CLCN2 (chloride voltage-gated channel 2) related leukoencephalopathy | CLCN2-related leucoencephalopathy | Leucoencephalopathy with mild cerebellar ataxia and white matter oedema | CLCN2 (chloride voltage-gated channel 2) related leucoencephalopathy | Leucoencephalopathy with ataxia,SNOMEDCT ID:768663003,,,leukoencephalopathy with mild cerebellar ataxia and white matter edema,MONDO:0014292,,,,,,OMIM ID:615651 +BMGC_DS16967,BMG_DS065498,"FANCONI ANEMIA, COMPLEMENTATION GROUP S",UMLS ID:C4554406,,,,,"Fanconi anemia, complementation group S",MONDO:0054748,,,Fanconi anemia complementation group S,DOID:0060979,,OMIM ID:113705 | OMIM ID:617883 +BMGC_DS16968,BMG_DS065499,"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3",UMLS ID:C4554421,,,,,"amyloidosis, primary localized cutaneous, 3",MONDO:0054765,,,primary localized cutaneous amyloidosis 3,DOID:0080932,,OMIM ID:617920 | OMIM ID:604368 +BMGC_DS16969,BMG_DS065500,Pressure injury,UMLS ID:C4554531,Pressure injury (morphologic abnormality) | Pressure injury | Pressure injury | Pressure injury (disorder),SNOMEDCT ID:1163214006 | SNOMEDCT ID:1163215007,,,decubitus ulcer,MONDO:0004646,,,decubitus ulcer,DOID:8717,, +BMGC_DS16970,BMG_DS065501,Amyloidosis cutis dyschromia,UMLS ID:C4554601,Amyloidosis cutis dyschromia | Amyloidosis cutis dyschromica | Amyloidosis cutis dyschromia (disorder),SNOMEDCT ID:764849002,,,amyloidosis cutis dyschromia,MONDO:0017906,,,,,, +BMGC_DS16971,BMG_DS065505,"PROTOPORPHYRIA, ERYTHROPOIETIC, 1",UMLS ID:C4692546,,,,,"protoporphyria, erythropoietic, 1",MONDO:0008319,,,,,,OMIM ID:612386 | OMIM ID:177000 +BMGC_DS16972,BMG_DS065506,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1",UMLS ID:C4692564,,,,,"tumoral calcinosis, hyperphosphatemic, familial, 1",MONDO:0100252,,,,,,OMIM ID:601756 | OMIM ID:211900 +BMGC_DS16973,BMG_DS065507,MANDIBULOFACIAL DYSOSTOSIS WITH IMPAIRED INTELLECTUAL DEVELOPMENT,UMLS ID:C4692584,,,,,mandibulofacial dysostosis with mental deficiency,MONDO:0009559,,,,,,OMIM ID:248400 +BMGC_DS16974,BMG_DS065508,SHWACHMAN-DIAMOND SYNDROME 1,UMLS ID:C4692625,,,,,Shwachman-Diamond syndrome 1,MONDO:0044204,,,,,,OMIM ID:607444 | OMIM ID:260400 +BMGC_DS16975,BMG_DS065509,,UMLS ID:C4692652,,,,,"intellectual disability, X-linked 107",MONDO:0049222,,,,,,OMIM ID:301013 +BMGC_DS16976,BMG_DS065510,,UMLS ID:C4692845,,,,,"blepharospasm, benign essential, susceptibility to",MONDO:0100532,,,,,,OMIM ID:606798 +BMGC_DS16977,BMG_DS065512,"SEIZURES, BENIGN FAMILIAL INFANTILE, 6",UMLS ID:C4692954,,,,,,,,,benign familial infantile seizures 6 | autosomal dominant nocturnal frontal lobe epilepsy 4,DOID:0081119;DOID:0060685,,OMIM ID:118502 | OMIM ID:610353 +BMGC_DS16978,BMG_DS065515,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ibb",UMLS ID:C4693133,,,,,"congenital disorder of glycosylation, type Ibb",MONDO:0800353,,,,,,OMIM ID:613861 +BMGC_DS16979,BMG_DS065517,"NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE",UMLS ID:C4693325,,,,,"neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",MONDO:0060629,,,,,,OMIM ID:617820 +BMGC_DS16980,BMG_DS065518,ALKURAYA-KUCINSKAS SYNDROME,UMLS ID:C4693347,,,,,Alkuraya-Kucinskas syndrome,MONDO:0060631,,,Alkuraya-Kucinskas syndrome,DOID:0111555,,OMIM ID:611565 | OMIM ID:617822 +BMGC_DS16981,BMG_DS065520,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92,UMLS ID:C4693362,,,,,developmental and epileptic encephalopathy 92,MONDO:0020631,,,developmental and epileptic encephalopathy 92,DOID:0080471,,OMIM ID:600232 | OMIM ID:617829 +BMGC_DS16982,BMG_DS065521,"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58",UMLS ID:C4693367,,,,,"developmental and epileptic encephalopathy, 58",MONDO:0033367,,,developmental and epileptic encephalopathy 58,DOID:0080285,,OMIM ID:617830 +BMGC_DS16983,BMG_DS065522,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES",UMLS ID:C4693371,,,,,"intellectual disability, autosomal dominant 55, with seizures",MONDO:0030921,,,autosomal dominant intellectual developmental disorder 55,DOID:0080227,,OMIM ID:610463 | OMIM ID:617831 +BMGC_DS16984,BMG_DS065523,DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES,UMLS ID:C4693376,,,,,developmental delay and seizures with or without movement abnormalities,MONDO:0044326,,,developmental delay and seizures with or without movement abnormalities,DOID:0080473,,OMIM ID:617836 | OMIM ID:608172 +BMGC_DS16985,BMG_DS065524,,UMLS ID:C4693381,,,,,amyotrophic lateral sclerosis type 23,MONDO:0027694,,,,,,OMIM ID:617839 +BMGC_DS16986,BMG_DS065525,,UMLS ID:C4693389,,,,,"intellectual disability, autosomal dominant 56",MONDO:0030922,,,,,,OMIM ID:617854 +BMGC_DS16987,BMG_DS065526,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY",UMLS ID:C4693390,,,,,"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",MONDO:0060640,,,"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",DOID:0060934,,OMIM ID:617862 | OMIM ID:610397 +BMGC_DS16988,BMG_DS065527,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES,UMLS ID:C4693391,,,,,neurodevelopmental disorder with or without seizures and gait abnormalities,MONDO:0060641,,,,,,OMIM ID:617864 +BMGC_DS16989,BMG_DS065528,"NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES",UMLS ID:C4693405,,,,,"neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features",MONDO:0060642,,,,,,OMIM ID:615951 | OMIM ID:617865 +BMGC_DS16990,BMG_DS065531,SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY,UMLS ID:C4693420,,,,,short-rib thoracic dysplasia 18 with polydactyly,MONDO:0036483,,,short-rib thoracic dysplasia 18 with polydactyly,DOID:0080293,,OMIM ID:614068 | OMIM ID:617866 +BMGC_DS16991,BMG_DS065532,RETINITIS PIGMENTOSA 81,UMLS ID:C4693443,,,,,retinitis pigmentosa 81,MONDO:0036482,,,retinitis pigmentosa 81,DOID:0080292,,OMIM ID:614068 | OMIM ID:617871 +BMGC_DS16992,BMG_DS065533,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,UMLS ID:C4693450,Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder) | Syndromic sensorineural deafness due to COXPD (combined oxidative phosphorylation defect),SNOMEDCT ID:1260133007,,,combined oxidative phosphorylation deficiency 34,MONDO:0054741,,,,,,OMIM ID:617872 +BMGC_DS16993,BMG_DS065534,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35,UMLS ID:C4693466,,,,,combined oxidative phosphorylation deficiency 35,MONDO:0054742,,,combined oxidative phosphorylation deficiency 35,DOID:0111464,,OMIM ID:617840 | OMIM ID:617873 +BMGC_DS16994,BMG_DS065535,POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS,UMLS ID:C4693472,,,,,polycystic liver disease 3 with or without kidney cysts,MONDO:0054743,,,polycystic liver disease 3,DOID:0060976,,OMIM ID:617874 +BMGC_DS16995,BMG_DS065536,POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS,UMLS ID:C4693479,,,,,polycystic liver disease 4 with or without kidney cysts,MONDO:0044327,,,polycystic liver disease 4,DOID:0060977,,OMIM ID:603506 | OMIM ID:617875 +BMGC_DS16996,BMG_DS065538,LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS,UMLS ID:C4693498,,,,,Leber congenital amaurosis with early-onset deafness,MONDO:0060650,,,Leber congenital amaurosis with early-onset deafness,DOID:0112240,,OMIM ID:617879 +BMGC_DS16997,BMG_DS065539,"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G",UMLS ID:C4693509,,,,,"Charcot-Marie-Tooth disease, dominant intermediate G",MONDO:0036484,,,Charcot-Marie-Tooth disease dominant intermediate G,DOID:0080294,,OMIM ID:617882 | OMIM ID:162280 +BMGC_DS16998,BMG_DS065540,,UMLS ID:C4693523,,,,,"amyotrophic lateral sclerosis, susceptibility to, 24",MONDO:0054750,,,,,,OMIM ID:617892 +BMGC_DS16999,BMG_DS065541,SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY,UMLS ID:C4693524,,,,,short-rib thoracic dysplasia 19 with or without polydactyly,MONDO:0033485,,,short-rib thoracic dysplasia 19 with or without polydactyly,DOID:0080295,,OMIM ID:617895 +BMGC_DS17000,BMG_DS065542,MULTIPLE SYNOSTOSES SYNDROME 4,UMLS ID:C4693531,,,,,multiple synostoses syndrome 4,MONDO:0054752,,,multiple synostoses syndrome 4,DOID:0081320,,OMIM ID:617898 | OMIM ID:601147 +BMGC_DS17001,BMG_DS065543,"LEUKODYSTROPHY, HYPOMYELINATING, 14",UMLS ID:C4693535,,,,,"leukodystrophy, hypomyelinating, 14",MONDO:0033486,,,hypomyelinating leukodystrophy 14,DOID:0080296,,OMIM ID:610553 | OMIM ID:617899 +BMGC_DS17002,BMG_DS065544,,UMLS ID:C4693542,,,,,"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8",MONDO:0054754,,,,,,OMIM ID:617900 +BMGC_DS17003,BMG_DS065545,NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS,UMLS ID:C4693546,,,,,neurodevelopmental disorder with poor language and loss of hand skills,MONDO:0060659,,,,,,OMIM ID:607340 | OMIM ID:617903 +BMGC_DS17004,BMG_DS065546,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59,UMLS ID:C4693550,,,,,"developmental and epileptic encephalopathy, 59",MONDO:0033368,,,developmental and epileptic encephalopathy 59,DOID:0080291,,OMIM ID:607340 | OMIM ID:617904 +BMGC_DS17005,BMG_DS065547,"ERYTHROCYTOSIS, FAMILIAL, 5",UMLS ID:C4693552,,,,,"erythrocytosis, familial, 5",MONDO:0033483,,,familial erythrocytosis 5,DOID:0080290,,OMIM ID:617907 | OMIM ID:133170 +BMGC_DS17006,BMG_DS065548,DIAMOND-BLACKFAN ANEMIA-LIKE,UMLS ID:C4693556,,,,,Diamond-Blackfan anemia-like,MONDO:0060662,,,,,,OMIM ID:133170 | OMIM ID:617911 +BMGC_DS17007,BMG_DS065549,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5",UMLS ID:C4693563,,,,,"congenital heart defects, multiple types, 5",MONDO:0060663,,,,,,OMIM ID:611496 | OMIM ID:617912 +BMGC_DS17008,BMG_DS065550,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES",UMLS ID:C4693567,,,,,"neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",MONDO:0060664,,,"neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",DOID:0081263,,OMIM ID:617913 | OMIM ID:606969 +BMGC_DS17009,BMG_DS065551,,UMLS ID:C4693572,,,,,"microcephaly 20, primary, autosomal recessive",MONDO:0054761,,,,,,OMIM ID:617914 +BMGC_DS17010,BMG_DS065552,"HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME",UMLS ID:C4693578,,,,,"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome",MONDO:0060666,,,,,,OMIM ID:602618 | OMIM ID:617915 +BMGC_DS17011,BMG_DS065553,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7,UMLS ID:C4693583,,,,,neurodegeneration with brain iron accumulation 7,MONDO:0054763,,,,,,OMIM ID:614825 | OMIM ID:617916 +BMGC_DS17012,BMG_DS065554,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8,UMLS ID:C4693587,,,,,neurodegeneration with brain iron accumulation 8,MONDO:0054764,,,,,,OMIM ID:600184 | OMIM ID:617917 +BMGC_DS17013,BMG_DS065555,,UMLS ID:C4693609,,,,,"amyotrophic lateral sclerosis, susceptibility to, 25",MONDO:0060670,,,,,,OMIM ID:617921 +BMGC_DS17014,BMG_DS065556,,UMLS ID:C4693613,,,,,"epilepsy, juvenile myoclonic, susceptibility to, 10",MONDO:0060671,,,,,,OMIM ID:617924 +BMGC_DS17015,BMG_DS065557,SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY,UMLS ID:C4693616,,,,,short-rib thoracic dysplasia 20 with polydactyly,MONDO:0044328,,,,,,OMIM ID:610621 | OMIM ID:617925 +BMGC_DS17016,BMG_DS065558,OROFACIODIGITAL SYNDROME XVII,UMLS ID:C4693640,,,,,orofaciodigital syndrome 17,MONDO:0033375,,,orofaciodigital syndrome XVII,DOID:0080289,,OMIM ID:610621 | OMIM ID:617926 +BMGC_DS17017,BMG_DS065559,KERATOCONUS 9,UMLS ID:C4693660,,,,,keratoconus 9,MONDO:0054771,,,,,,OMIM ID:617928 | OMIM ID:617878 +BMGC_DS17018,BMG_DS065560,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60,UMLS ID:C4693663,,,,,"developmental and epileptic encephalopathy, 60",MONDO:0033369,,,developmental and epileptic encephalopathy 60,DOID:0080432,,OMIM ID:610774 | OMIM ID:617929 +BMGC_DS17019,BMG_DS065561,CHROMOSOME 1p35 DELETION SYNDROME,UMLS ID:C4693669,,,,,chromosome 1p35 deletion syndrome,MONDO:0060677,,,,,,OMIM ID:617930 +BMGC_DS17020,BMG_DS065562,"PUM1-associated developmental disability, ataxia, seizure syndrome",UMLS ID:C4693672,"PADDAS syndrome | SCA47 - spinocerebellar ataxia type 47 | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) | PUM1-associated developmental disability, ataxia, seizure syndrome",SNOMEDCT ID:1260097007,,,spinocerebellar ataxia 47,MONDO:0033482,,,,,,OMIM ID:617931 +BMGC_DS17021,BMG_DS065563,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61,UMLS ID:C4693688,,,,,"developmental and epileptic encephalopathy, 61",MONDO:0033370,,,developmental and epileptic encephalopathy 61,DOID:0080434,,OMIM ID:617933 | OMIM ID:603709 +BMGC_DS17022,BMG_DS065564,"EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4",UMLS ID:C4693694,,,,,"epilepsy, familial focal, with variable foci 4",MONDO:0054776,,,familial focal epilepsy with variable foci 4,DOID:0081424,,OMIM ID:182391 | OMIM ID:617935 +BMGC_DS17023,BMG_DS065565,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62,UMLS ID:C4693699,,,,,"developmental and epileptic encephalopathy, 62",MONDO:0033371,,,developmental and epileptic encephalopathy 62,DOID:0080420,,OMIM ID:617938 | OMIM ID:182391 +BMGC_DS17024,BMG_DS065566,SHWACHMAN-DIAMOND SYNDROME 2,UMLS ID:C4693704,,,,,Shwachman-Diamond syndrome 2,MONDO:0044205,,,,,,OMIM ID:617538 | OMIM ID:617941 +BMGC_DS17025,BMG_DS065567,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36,UMLS ID:C4693722,,,,,combined oxidative phosphorylation deficiency 36,MONDO:0054781,,,combined oxidative phosphorylation deficiency 36,DOID:0111482,,OMIM ID:617950 | OMIM ID:611971 +BMGC_DS17026,BMG_DS065568,"LEUKODYSTROPHY, HYPOMYELINATING, 15",UMLS ID:C4693733,,,,,"leukodystrophy, hypomyelinating, 15",MONDO:0054782,,,hypomyelinating leukodystrophy 15,DOID:0070398,,OMIM ID:138295 | OMIM ID:617951 +BMGC_DS17027,BMG_DS065569,"OSTEOGENESIS IMPERFECTA, TYPE XVIII",UMLS ID:C4693736,,,,,"osteogenesis imperfecta, type 18",MONDO:0044329,,,osteogenesis imperfecta type 18,DOID:0111848,,OMIM ID:611357 | OMIM ID:617952 +BMGC_DS17028,BMG_DS065570,Multiple mitochondrial dysfunctions syndrome type 6,UMLS ID:C4693741,Multiple mitochondrial dysfunctions syndrome type 6 (disorder) | PMPCB (peptidase mitochondrial processing subunit beta) deficiency | PMPCB deficiency | Multiple mitochondrial dysfunctions syndrome type 6,SNOMEDCT ID:1279891002,,,multiple mitochondrial dysfunctions syndrome 6,MONDO:0054785,,,,,,OMIM ID:617954 +BMGC_DS17029,BMG_DS065571,SPERMATOGENIC FAILURE 24,UMLS ID:C4693751,,,,,spermatogenic failure 24,MONDO:0054728,,,spermatogenic failure 24,DOID:0111929,,OMIM ID:617949 | OMIM ID:617959 +BMGC_DS17030,BMG_DS065572,SPERMATOGENIC FAILURE 25,UMLS ID:C4693765,,,,,spermatogenic failure 25,MONDO:0054729,,,spermatogenic failure 25,DOID:0111920,,OMIM ID:617960 | OMIM ID:605795 +BMGC_DS17031,BMG_DS065574,SPERMATOGENIC FAILURE 26,UMLS ID:C4693773,,,,,spermatogenic failure 26,MONDO:0054730,,,spermatogenic failure 26,DOID:0111924,,OMIM ID:617961 | OMIM ID:607166 +BMGC_DS17032,BMG_DS065575,"LEUKODYSTROPHY, HYPOMYELINATING, 16",UMLS ID:C4693779,,,,,"leukodystrophy, hypomyelinating, 16",MONDO:0054791,,,hypomyelinating leukodystrophy 16,DOID:0070405,,OMIM ID:613413 | OMIM ID:617964 +BMGC_DS17033,BMG_DS065576,SPERMATOGENIC FAILURE 27,UMLS ID:C4693784,,,,,spermatogenic failure 27,MONDO:0054731,,,spermatogenic failure 27,DOID:0111928,,OMIM ID:615364 | OMIM ID:617965 +BMGC_DS17034,BMG_DS065577,"RH-NULL, AMORPH TYPE",UMLS ID:C4693796,,,,,,,,,,,,OMIM ID:111700 | OMIM ID:617970 +BMGC_DS17035,BMG_DS065578,"METHEMOGLOBINEMIA, ALPHA TYPE",UMLS ID:C4693798,,,,,"methemoglobinemia, alpha type",MONDO:0020835,,,,,,OMIM ID:617973 +BMGC_DS17036,BMG_DS065579,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE",UMLS ID:C4693799,,,,,"spondyloepimetaphyseal dysplasia, di rocco type",MONDO:0060702,,,,,,OMIM ID:611482 | OMIM ID:617974 +BMGC_DS17037,BMG_DS065580,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63,UMLS ID:C4693810,,,,,"developmental and epileptic encephalopathy, 63",MONDO:0033372,,,developmental and epileptic encephalopathy 63,DOID:0080426,,OMIM ID:617976 | OMIM ID:605032 +BMGC_DS17038,BMG_DS065581,NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES,UMLS ID:C4693816,,,,,neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures,MONDO:0060704,,,,,,OMIM ID:609226 | OMIM ID:617977 +BMGC_DS17039,BMG_DS065582,"ERYTHROCYTOSIS, FAMILIAL, 6",UMLS ID:C4693822,,,,,"erythrocytosis, familial, 6",MONDO:0054801,,,familial erythrocytosis 6,DOID:0111632,,OMIM ID:617980 +BMGC_DS17040,BMG_DS065583,"ERYTHROCYTOSIS, FAMILIAL, 7",UMLS ID:C4693823,,,,,"erythrocytosis, familial, 7",MONDO:0054802,,,familial erythrocytosis 7,DOID:0111631,,OMIM ID:617981 +BMGC_DS17041,BMG_DS065584,VERVERI-BRADY SYNDROME,UMLS ID:C4693824,,,,,Ververi-Brady syndrome,MONDO:0060707,,,,,,OMIM ID:617982 | OMIM ID:617387 +BMGC_DS17042,BMG_DS065585,"MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4693831,,,,,"microcephaly 21, primary, autosomal recessive",MONDO:0054804,,,,,,OMIM ID:617983 | OMIM ID:615638 +BMGC_DS17043,BMG_DS065586,"MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4693834,,,,,"microcephaly 22, primary, autosomal recessive",MONDO:0054805,,,,,,OMIM ID:617984 | OMIM ID:609276 +BMGC_DS17044,BMG_DS065587,"MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4693843,,,,,"microcephaly 23, primary, autosomal recessive",MONDO:0054806,,,,,,OMIM ID:602332 | OMIM ID:617985 +BMGC_DS17045,BMG_DS065588,JABERI-ELAHI SYNDROME,UMLS ID:C4693848,,,,,Jaberi-Elahi syndrome,MONDO:0060711,,,,,,OMIM ID:607434 | OMIM ID:617988 +BMGC_DS17046,BMG_DS065589,"PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome",UMLS ID:C4693860,"PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome | Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder) | Chung Jansen syndrome",SNOMEDCT ID:1208987006,,,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,MONDO:0035133,,,,,,OMIM ID:617991 +BMGC_DS17047,BMG_DS065590,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2",UMLS ID:C4693863,,,,,"tumoral calcinosis, hyperphosphatemic, familial, 2",MONDO:0060714,,,,,,OMIM ID:617993 +BMGC_DS17048,BMG_DS065591,"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3",UMLS ID:C4693864,,,,,"tumoral calcinosis, hyperphosphatemic, familial, 3",MONDO:0060715,,,,,,OMIM ID:617994 +BMGC_DS17049,BMG_DS065592,,UMLS ID:C4693865,,,,,oocyte maturation defect 5,MONDO:0020837,,,,,,OMIM ID:617996 +BMGC_DS17050,BMG_DS065593,Classical-like Ehlers-Danlos syndrome type 2,UMLS ID:C4693870,Classical-like Ehlers-Danlos syndrome type 2 | AEBP1-related Ehlers-Danlos syndrome | Classical-like Ehlers-Danlos syndrome type 2 (disorder) | AEBP1-related EDS (Ehlers-Danlos syndrome),SNOMEDCT ID:1255121003,,,"Ehlers-Danlos syndrome, classic-like, 2",MONDO:0054813,,,,,,OMIM ID:618000 +BMGC_DS17051,BMG_DS065594,"DEAFNESS, AUTOSOMAL RECESSIVE 57",UMLS ID:C4693893,,,,,"hearing loss, autosomal recessive 57",MONDO:0033201,,,autosomal recessive nonsyndromic deafness 57,DOID:0111635,,OMIM ID:612971 | OMIM ID:618003 +BMGC_DS17052,BMG_DS065595,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64,UMLS ID:C4693899,,,,,"developmental and epileptic encephalopathy, 64",MONDO:0033373,,,developmental and epileptic encephalopathy 64,DOID:0070375,,OMIM ID:607352 | OMIM ID:618004 +BMGC_DS17053,BMG_DS065596,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1,UMLS ID:C4693905,,,,,congenital disorder of glycosylation with defective fucosylation,MONDO:0060720,,,,,,OMIM ID:618005 | OMIM ID:602589 +BMGC_DS17054,BMG_DS065597,"LEUKODYSTROPHY, HYPOMYELINATING, 17",UMLS ID:C4693912,,,,,"leukodystrophy, hypomyelinating, 17",MONDO:0054817,,,hypomyelinating leukodystrophy 17,DOID:0070404,,OMIM ID:618006 | OMIM ID:600859 +BMGC_DS17055,BMG_DS065598,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65,UMLS ID:C4693925,,,,,"developmental and epileptic encephalopathy, 65",MONDO:0033374,,,developmental and epileptic encephalopathy 65,DOID:0080430,,OMIM ID:606323 | OMIM ID:618008 +BMGC_DS17056,BMG_DS065599,HYPEREKPLEXIA 4,UMLS ID:C4693933,,,,,hyperekplexia 4,MONDO:0044330,,,hyperekplexia 4,DOID:0080581,,OMIM ID:614452 | OMIM ID:618011 +BMGC_DS17057,BMG_DS065600,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93,UMLS ID:C4693934,,,,,developmental and epileptic encephalopathy 93,MONDO:0020632,,,developmental and epileptic encephalopathy 93,DOID:0112275,,OMIM ID:607027 | OMIM ID:618012 +BMGC_DS17058,BMG_DS065601,"DEAFNESS, AUTOSOMAL RECESSIVE 109",UMLS ID:C4693935,,,,,"hearing loss, autosomal recessive 109",MONDO:0033202,,,autosomal recessive nonsyndromic deafness 109,DOID:0111639,,OMIM ID:612959 | OMIM ID:618013 +BMGC_DS17059,BMG_DS065602,PREMATURE OVARIAN FAILURE 14,UMLS ID:C4693941,,,,,premature ovarian failure 14,MONDO:0044777,,,primary ovarian insufficiency 14,DOID:0080871,,OMIM ID:618014 | OMIM ID:601918 +BMGC_DS17060,BMG_DS065603,"PROTOPORPHYRIA, ERYTHROPOIETIC, 2",UMLS ID:C4693947,,,,,"protoporphyria, erythropoietic, 2",MONDO:0060729,,,,,,OMIM ID:618015 | OMIM ID:615611 +BMGC_DS17061,BMG_DS065604,"DRUG METABOLISM, ALTERED, CYP2C8-RELATED",UMLS ID:C4693948,,,,,,,,,,,,OMIM ID:601129 | OMIM ID:618018 +BMGC_DS17062,BMG_DS065616,"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC",UMLS ID:C4693974,,,,,,,,,methylmalonic aciduria and homocystinuria type cblC,DOID:0050715,,OMIM ID:176763 | OMIM ID:609831 | OMIM ID:277400 +BMGC_DS17063,BMG_DS065639,"HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE",UMLS ID:C4694049,,,,,,,,,,,,OMIM ID:141900 +BMGC_DS17064,BMG_DS065640,POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY,UMLS ID:C4694050,,,,,,,,,17-beta hydroxysteroid dehydrogenase 3 deficiency,DOID:0112248,,OMIM ID:264300 +BMGC_DS17065,BMG_DS065642,,UMLS ID:C4700504,,,,,congenital disorder of glycosylation type I,MONDO:0005500,,,,,, +BMGC_DS17066,BMG_DS065657,,UMLS ID:C4703420,,,,,Tessier number 4 facial cleft,MONDO:0010850,,,,,,OMIM ID:600251 +BMGC_DS17067,BMG_DS065658,Severe Cytomegalovirus Infection,UMLS ID:C4703481,,,,,,,Cytomegalovirus Infections,MeSH ID:D003586,,,, +BMGC_DS17068,BMG_DS065665,Stationary Cone Dystrophy,UMLS ID:C4704791,,,,,,,Cone Dystrophy,MeSH ID:D000077765,cone dystrophy,DOID:0050795,, +BMGC_DS17069,BMG_DS065666,"Polyarthritis, Juvenile, Rheumatoid Factor Positive",UMLS ID:C4704862,,,,,,,"Arthritis, Juvenile",MeSH ID:D001171,,,, +BMGC_DS17070,BMG_DS065667,Genital Vulvovaginal Candidiasis,UMLS ID:C4704876,,,,,,,"Candidiasis, Vulvovaginal",MeSH ID:D002181,,,, +BMGC_DS17071,BMG_DS065668,Fibrocystic Dysplasia of Bone,UMLS ID:C4704884,,,,,,,Fibrous Dysplasia of Bone,MeSH ID:D005357,,,, +BMGC_DS17072,BMG_DS065669,Fibrocartilaginous Dysplasia of Bone,UMLS ID:C4704885,,,,,,,Fibrous Dysplasia of Bone,MeSH ID:D005357,,,, +BMGC_DS17073,BMG_DS065670,Maternal Sepsis,UMLS ID:C4704910,,,,,,,"Pregnancy Complications, Infectious",MeSH ID:D011251,,,, +BMGC_DS17074,BMG_DS065671,Posterior Interosseous Nerve Syndrome,UMLS ID:C4704934,,,,,,,Radial Neuropathy,MeSH ID:D020425,,,, +BMGC_DS17075,BMG_DS065672,Femoral Nerve Dysfunction,UMLS ID:C4704935,,,,,,,Femoral Neuropathy,MeSH ID:D020428,,,, +BMGC_DS17076,BMG_DS065675,2q33.1 microdeletion syndrome,UMLS ID:C4706258,2q33.1 microdeletion syndrome (disorder) | 2q33.1 microdeletion syndrome | Monosomy 2q33.1,SNOMEDCT ID:763062006,,,2q33.1 microdeletion syndrome,MONDO:0016653,,,,,, +BMGC_DS17077,BMG_DS065678,Combined oxidative phosphorylation defect type 13,UMLS ID:C4706283,Combined oxidative phosphorylation defect type 13 (disorder) | Combined oxidative phosphorylation defect type 13 | COXPD13 - combined oxidative phosphorylation defect type 13,SNOMEDCT ID:763110007,,,combined oxidative phosphorylation defect type 13,MONDO:0013977,,,,,,OMIM ID:614932 +BMGC_DS17078,BMG_DS065683,Combined oxidative phosphorylation defect type 15,UMLS ID:C4706313,COXPD15 - combined oxidative phosphorylation defect type 15 | Combined oxidative phosphorylation defect type 15 (disorder) | Combined oxidative phosphorylation defect type 15,SNOMEDCT ID:763203009,,,combined oxidative phosphorylation defect type 15,MONDO:0013987,,,,,,OMIM ID:614947 +BMGC_DS17079,BMG_DS065684,Combined oxidative phosphorylation defect type 9,UMLS ID:C4706315,Combined oxidative phosphorylation defect type 9 (disorder) | Combined oxidative phosphorylation defect type 9 | COXPD9 - combined oxidative phosphorylation defect type 9,SNOMEDCT ID:763209008,,,combined oxidative phosphorylation defect type 9,MONDO:0013811,,,,,,OMIM ID:614582 +BMGC_DS17080,BMG_DS065685,Combined oxidative phosphorylation defect type 21,UMLS ID:C4706316,COXPD21 - combined oxidative phosphorylation defect type 21 | Combined oxidative phosphorylation defect type 21 | Combined oxidative phosphorylation defect type 21 (disorder),SNOMEDCT ID:763211004,,,combined oxidative phosphorylation defect type 21,MONDO:0014398,,,,,,OMIM ID:615918 +BMGC_DS17081,BMG_DS065695,"Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome",UMLS ID:C4706367,"Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)",SNOMEDCT ID:763280005,,,,,,,,,, +BMGC_DS17082,BMG_DS065696,,UMLS ID:C4706386,,,,,acute myeloid leukemia with NPM1 somatic mutations,MONDO:0018437,,,,,, +BMGC_DS17083,BMG_DS065700,Congenital myopathy with myasthenic-like onset,UMLS ID:C4706390,Congenital myopathy with myasthenic-like onset (disorder) | Congenital myopathy with myasthenic-like onset,SNOMEDCT ID:763315005,,,congenital myopathy with myasthenic-like onset,MONDO:0018528,,,,,, +BMGC_DS17084,BMG_DS065703,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,UMLS ID:C4706393,"Bone fragillity, contractures, arterial rupture, deafness syndrome | Connective tissue disorder due to lysyl hydroxylase-3 deficiency | Bone fragility, contractures, arterial rupture, deafness syndrome | Connective tissue disorder due to lysyl hydroxylase-3 deficiency (disorder) | Connective tissue disorder due to LH3 deficiency",SNOMEDCT ID:763318007,,,,,,,,,, +BMGC_DS17085,BMG_DS065704,Lethal congenital contracture syndrome type 5,UMLS ID:C4706410,"Fetal akinesia, cerebral and retinal haemorrhage syndrome | Lethal congenital contracture syndrome type 5 | Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder) | Fetal akinesia, cerebral and retinal hemorrhage syndrome | Foetal akinesia, cerebral and retinal haemorrhage syndrome",SNOMEDCT ID:763346009,,,fetal akinesia-cerebral and retinal hemorrhage syndrome,MONDO:0014149,,,,,,OMIM ID:615368 +BMGC_DS17086,BMG_DS065705,Autosomal recessive cerebellar ataxia with late-onset spasticity,UMLS ID:C4706412,Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency | Autosomal recessive cerebellar ataxia with late-onset spasticity | Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder),SNOMEDCT ID:763348005,,,autosomal recessive cerebellar ataxia with late-onset spasticity,MONDO:0018129,,,,,, +BMGC_DS17087,BMG_DS065706,Progressive myoclonic epilepsy with dystonia,UMLS ID:C4706413,Progressive myoclonus epilepsy with dystonia | Progressive myoclonic epilepsy with dystonia | Progressive myoclonic epilepsy with dystonia (disorder),SNOMEDCT ID:763349002,,,progressive myoclonic epilepsy with dystonia,MONDO:0018126,,,,,, +BMGC_DS17088,BMG_DS065707,"Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome",UMLS ID:C4706414,"Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (disorder)",SNOMEDCT ID:763350002,,,intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,MONDO:0018123,,,,,, +BMGC_DS17089,BMG_DS065708,Spectrin-associated autosomal recessive cerebellar ataxia,UMLS ID:C4706415,"Spectrin-associated autosomal recessive cerebellar ataxia | Autosomal recessive spinocerebellar ataxia type 14 | Autosomal recessive cerebellar ataxia, cognitive defect syndrome | Spectrin-associated autosomal recessive cerebellar ataxia (disorder) | Spectrin-associated autosomal recessive cerebellar ataxia type 1",SNOMEDCT ID:763351003,,,autosomal recessive spinocerebellar ataxia 14,MONDO:0014159,,,,,,OMIM ID:615386 +BMGC_DS17090,BMG_DS065709,"Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome",UMLS ID:C4706421,"Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) | COXPD12 - combined oxidative phosphorylation defect type 12 | Combined oxidative phosphorylation defect type 12 | Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome",SNOMEDCT ID:763366000,,,leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,MONDO:0013971,,,,,,OMIM ID:614924 +BMGC_DS17091,BMG_DS065710,Familial progressive hyperpigmentation and hypopigmentation of skin,UMLS ID:C4706423,Familial progressive hyperpigmentation and hypopigmentation of skin | Familial progressive hyper and hypopigmentation | Familial progressive hyperpigmentation and hypopigmentation of skin (disorder),SNOMEDCT ID:763368004,,,familial progressive hyper- and hypopigmentation,MONDO:0017239,,,,,, +BMGC_DS17092,BMG_DS065719,Distal monosomy 3p syndrome,UMLS ID:C4706503,Distal monosomy 3p syndrome | Distal 3p deletion | Distal monosomy 3p | Distal monosomy 3p syndrome (disorder) | 3p syndrome,SNOMEDCT ID:763528002,,,3p- syndrome,MONDO:0013424,,,,,,OMIM ID:613792 +BMGC_DS17093,BMG_DS065722,Hot water reflex epilepsy,UMLS ID:C4706506,Hot water reflex epilepsy | Hot water reflex epilepsy (disorder),SNOMEDCT ID:763534009,,,hot water reflex epilepsy,MONDO:0013229,,,,,, +BMGC_DS17094,BMG_DS065728,Severe combined immunodeficiency due to CTPS1 deficiency,UMLS ID:C4706524,Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency | Severe combined immunodeficiency due to CTPS1 deficiency | Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder),SNOMEDCT ID:763623001,,,,,,,,,, +BMGC_DS17095,BMG_DS065732,"Deafness, encephaloneuropathy, obesity, valvulopathy syndrome",UMLS ID:C4706538,"Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome | Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)",SNOMEDCT ID:763688008,,,,,,,,,, +BMGC_DS17096,BMG_DS065733,Idiopathic CD4 lymphocytopenia,UMLS ID:C4706550,Idiopathic CD4 lymphocytopenia (disorder) | Idiopathic CD4 lymphocytopenia | ICL - idiopathic CD4 lymphocytopenia,SNOMEDCT ID:763713000,,,,,,,,,, +BMGC_DS17097,BMG_DS065734,Familial hyperprolactinemia,UMLS ID:C4706551,Familial hyperprolactinemia | Familial hyperprolactinemia (disorder) | Familial hyperprolactinaemia | Familial isolated prolactin receptor deficiency,SNOMEDCT ID:763715007,,,familial hyperprolactinemia,MONDO:0014250,,,,,,OMIM ID:615555 +BMGC_DS17098,BMG_DS065735,,UMLS ID:C4706552,,,,,familial vesicoureteral reflux,MONDO:0017329,,,,,, +BMGC_DS17099,BMG_DS065737,Hypermethioninemia encephalopathy due to deficiency of adenosine kinase,UMLS ID:C4706555,Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) | Hypermethioninemia encephalopathy due to deficiency of adenosine kinase | Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase | Hypermethioninemia encephalopathy due to ADK (adenosine kinase) deficiency | Hypermethioninaemia encephalopathy due to ADK (adenosine kinase) deficiency,SNOMEDCT ID:763721006,,,adenosine kinase deficiency,MONDO:0100255,,,,,,OMIM ID:611094 | OMIM ID:614300 +BMGC_DS17100,BMG_DS065738,"Hypotonia, speech impairment, severe cognitive delay syndrome",UMLS ID:C4706556,"Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) | Hypotonia, speech impairment, severe cognitive delay syndrome | IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome",SNOMEDCT ID:763722004,,,"hypotonia, infantile, with psychomotor retardation and characteristic facies",MONDO:0014176,,,,,, +BMGC_DS17101,BMG_DS065740,"Intellectual disability, alacrima, achalasia syndrome",UMLS ID:C4706563,"Intellectual disability, alacrima, achalasia syndrome (disorder) | Intellectual disability, alacrima, achalasia syndrome",SNOMEDCT ID:763741001,,,"alacrima, achalasia, and intellectual disability syndrome",MONDO:0014219,,,,,,OMIM ID:615510 +BMGC_DS17102,BMG_DS065744,Macrocephaly and developmental delay syndrome,UMLS ID:C4706573,Macrocephaly and developmental delay syndrome | Macrocephaly and developmental delay syndrome (disorder),SNOMEDCT ID:763773007,,,,,,,,,, +BMGC_DS17103,BMG_DS065745,KLHL9-related early-onset distal myopathy,UMLS ID:C4706574,KLHL9-related early-onset distal myopathy | Kelch like family member 9 related early-onset distal myopathy (disorder) | Kelch like family member 9 related early-onset distal myopathy,SNOMEDCT ID:763776004,,,KLHL9-related early-onset distal myopathy,MONDO:0018370,,,,,, +BMGC_DS17104,BMG_DS065746,Larsen-like syndrome B3GAT3 type,UMLS ID:C4706575,"Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type | Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome | Larsen-like syndrome B3GAT3 type | Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)",SNOMEDCT ID:763778003,,,,,,,,,, +BMGC_DS17105,BMG_DS065749,,UMLS ID:C4706584,,,,,megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),MONDO:0018436,,,,,, +BMGC_DS17106,BMG_DS065750,"Microcephalus, complex motor and sensory axonal neuropathy syndrome",UMLS ID:C4706585,"Microcephalus, complex motor and sensory axonal neuropathy syndrome | Microcephaly, complex motor and sensory axonal neuropathy syndrome | Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder)",SNOMEDCT ID:763798008,,,microcephaly-complex motor and sensory axonal neuropathy syndrome,MONDO:0018507,,,,,, +BMGC_DS17107,BMG_DS065752,Oculoauricular syndrome Schorderet type,UMLS ID:C4706592,Oculoauricular syndrome Schorderet type | Oculoauricular syndrome Schorderet type (disorder),SNOMEDCT ID:763815000,,,,,,,,,, +BMGC_DS17108,BMG_DS065757,Oro-facial digital syndrome type 14,UMLS ID:C4706604,"Oro-facial digital syndrome type 14 | Oro-facial digital syndrome type 14 (disorder) | Microcephaly, cerebral malformation, orofaciodigital syndrome | Orofaciodigital syndrome type 14",SNOMEDCT ID:763837007,,,orofaciodigital syndrome type 14,MONDO:0014413,,,,,,OMIM ID:615948 +BMGC_DS17109,BMG_DS065760,SHOX-related short stature,UMLS ID:C4706613,SHOX-related short stature | Short stature homeobox related short stature (disorder) | Short stature homeobox related short stature | SHOX (short stature homeobox) related short stature,SNOMEDCT ID:763868006,,,,,,,,,, +BMGC_DS17110,BMG_DS065782,Spondyloperipheral dysplasia with short ulna syndrome,UMLS ID:C4706658,Spondyloperipheral dysplasia with short ulna syndrome (disorder) | Spondyloperipheral dysplasia with short ulna syndrome,SNOMEDCT ID:763886009,,,,,,,,,, +BMGC_DS17111,BMG_DS065785,Short stature with delayed bone age due to thyroid hormone metabolism deficiency,UMLS ID:C4706661,Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) | Short stature with delayed bone age due to thyroid hormone metabolism deficiency,SNOMEDCT ID:763890006,,,,,,,,,, +BMGC_DS17112,BMG_DS065786,"Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome",UMLS ID:C4706676,"Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) | Ataxia, delayed dentition, hypomyelination syndrome | Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome",SNOMEDCT ID:764095005,,,,,,,,,, +BMGC_DS17113,BMG_DS065787,Male infertility with teratozoospermia due to single gene mutation,UMLS ID:C4706677,Male infertility with teratozoospermia due to single gene mutation (disorder) | Male infertility with teratozoospermia due to single gene mutation,SNOMEDCT ID:764096006,,,male infertility with teratozoospermia due to single gene mutation,MONDO:0018394,,,,,, +BMGC_DS17114,BMG_DS065795,Wooly hair with palmoplantar keratoderma syndrome,UMLS ID:C4706686,Wooly hair with palmoplantar keratoderma syndrome | Woolly hair with palmoplantar keratoderma syndrome | Wooly hair with palmoplantar keratoderma syndrome (disorder) | Keratoderma with woolly hair type IV | Keratoderma with wooly hair type IV,SNOMEDCT ID:764108000,,,,,,,palmoplantar keratoderma and woolly hair,DOID:0070554,, +BMGC_DS17115,BMG_DS065826,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,UMLS ID:C4706871,CA-VA (carbonic anhydrase VA) deficiency | Carbonic anhydrase VA deficiency | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | CA5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | Carbonic anhydrase 5A related hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,SNOMEDCT ID:764456001,,,,,,,,,, +BMGC_DS17116,BMG_DS065837,,UMLS ID:C4706941,,,,,familial isolated trichomegaly,MONDO:0018472,,,,,, +BMGC_DS17117,BMG_DS065845,Distal 17p13.3 microdeletion syndrome,UMLS ID:C4707092,Distal 17p13.3 microdeletion syndrome | Distal monosomy 17p13.3 | Distal 17p13.3 microdeletion syndrome (disorder),SNOMEDCT ID:764696007,,,distal 17p13.3 microdeletion syndrome,MONDO:0016839,,,,,, +BMGC_DS17118,BMG_DS065849,"Progressive external ophthalmoplegia, myopathy, emaciation syndrome",UMLS ID:C4707098,"Progressive external ophthalmoplegia, myopathy, emaciation syndrome | Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder) | PEO (progressive external ophthalmoplegia) myopathy emaciation syndrome | Mitochondrial DNA (deoxyribonucleic acid) maintenance syndrome due to MGME1 (mitochondrial genome maintenance exonuclease 1) deficiency",SNOMEDCT ID:764733009,,,,,,,,,, +BMGC_DS17119,BMG_DS065853,Autosomal recessive myogenic arthrogryposis multiplex congenita,UMLS ID:C4707155,Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) | Autosomal recessive myogenic arthrogryposis multiplex congenita | SYNE1-related arthrogryposis multiplex congenita | SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita,SNOMEDCT ID:764812008,,,autosomal recessive myogenic arthrogryposis multiplex congenita,MONDO:0017892,,,,,, +BMGC_DS17120,BMG_DS065854,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,UMLS ID:C4707173,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,SNOMEDCT ID:764730007,,,autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,MONDO:0017940,,,,,, +BMGC_DS17121,BMG_DS065855,,UMLS ID:C4707178,,,,,acute myeloid leukemia with CEBPA somatic mutations,MONDO:0017894,,,,,, +BMGC_DS17122,BMG_DS065857,"Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome",UMLS ID:C4707180,"Absent tibia polydactyly syndrome | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome (disorder)",SNOMEDCT ID:764857004,,,,,,,,,, +BMGC_DS17123,BMG_DS065859,,UMLS ID:C4707228,,,,,inherited acute myeloid leukemia,MONDO:0017893,,,,,, +BMGC_DS17124,BMG_DS065860,"Colobomatous microphthalmia, rhizomelic dysplasia syndrome",UMLS ID:C4707229,"Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) | Colobomatous microphthalmia, rhizomelic dysplasia syndrome | Microphthalmia, coloboma, rhizomelic skeletal dysplasia",SNOMEDCT ID:764942005,,,,,,,,,, +BMGC_DS17125,BMG_DS065861,Congenital myopathy with internal nuclei and atypical cores,UMLS ID:C4707232,Centronuclear myopathy type 4 | Congenital myopathy with internal nuclei and atypical cores (disorder) | Congenital myopathy with internal nuclei and atypical cores,SNOMEDCT ID:764945007,,,congenital myopathy with internal nuclei and atypical cores,MONDO:0013890,,,,,,OMIM ID:614807 +BMGC_DS17126,BMG_DS065865,Striate palmoplantar keratoderma,UMLS ID:C4707237,Striate palmoplantar keratoderma (disorder) | Keratosis palmoplantaris varians of Wachters | Keratosis palmoplantaris striata et areata | Striate palmoplantar keratoderma | Keratosis palmoplantaris striata,SNOMEDCT ID:764958008,,,striate palmoplantar keratoderma,MONDO:0018865,,,,,, +BMGC_DS17127,BMG_DS065866,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,UMLS ID:C4707238,Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency (disorder),SNOMEDCT ID:764960005,,,inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,MONDO:0017337,,,,,, +BMGC_DS17128,BMG_DS065867,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,UMLS ID:C4707239,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) | Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,SNOMEDCT ID:764962002,,,,,,,,,, +BMGC_DS17129,BMG_DS065869,Familial thoracic aortic aneurysm and aortic dissection,UMLS ID:C4707243,Familial TAAD (thoracic aortic aneurysm aortic dissection) | Familial thoracic aortic aneurysm and aortic dissection | Familial thoracic aortic aneurysm and aortic dissection (disorder),SNOMEDCT ID:764965000,,,familial thoracic aortic aneurysm and aortic dissection,MONDO:0019625,,,,,, +BMGC_DS17130,BMG_DS065872,Muscle filaminopathy,UMLS ID:C4707258,Muscle filaminopathy | Muscle filaminopathy (disorder),SNOMEDCT ID:764992006,,,,,,,,,, +BMGC_DS17131,BMG_DS065878,"Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome",UMLS ID:C4707306,"Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) | Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome | Focal epilepsy, intellectual disability, dysarthria, ataxia syndrome",SNOMEDCT ID:765089003,,,focal epilepsy-intellectual disability-cerebro-cerebellar malformation,MONDO:0018125,,,,,, +BMGC_DS17132,BMG_DS065879,"Rolandic epilepsy, speech dyspraxia syndrome",UMLS ID:C4707308,"Rolandic epilepsy, speech dyspraxia syndrome (disorder) | Rolandic epilepsy, speech dyspraxia syndrome",SNOMEDCT ID:765093009,,,rolandic epilepsy-speech dyspraxia syndrome,MONDO:0015587,,,,,, +BMGC_DS17133,BMG_DS065881,Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency,UMLS ID:C4707328,Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | Methylmalonic acidaemia due to methylmalonyl-CoA epimerase deficiency | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) | Methylmalonic acidaemia due to methylmalonyl-CoA racemase deficiency | Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency | Methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | MCEE-gene related methylmalonic acidaemia due to methylmalonyl-coenzyme A epimerase deficiency | MCEE-gene related methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency,SNOMEDCT ID:765137006,,,,,,,,,, +BMGC_DS17134,BMG_DS065886,,UMLS ID:C4707333,,,,,sporadic pheochromocytoma/secreting paraganglioma,MONDO:0017190,,,,,, +BMGC_DS17135,BMG_DS065887,T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency,UMLS ID:C4707334,SCIDX1 - severe combined immunodeficiency X-linked | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency | T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency (disorder) | T-B+ severe combined immunodeficiency due to gamma chain deficiency,SNOMEDCT ID:765145001,,,,,,,,,, +BMGC_DS17136,BMG_DS065890,Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency,UMLS ID:C4707355,Severe combined immunodeficiency due to complete RAG1 (recombination activating gene 1) and/or RAG2 (recombination activating gene 2) deficiency | SCID (severe combined immunodeficiency) due to complete RAG1/2 deficiency | Severe combined immunodeficiency due to complete RAG1 and/or RAG2 deficiency | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency | Severe combined immunodeficiency due to complete recombination-activating gene 1 and/or recombination-activating gene 2 deficiency (disorder),SNOMEDCT ID:765188009,,,,,,,,,, +BMGC_DS17137,BMG_DS065892,Familial generalized lentiginosis,UMLS ID:C4707357,Familial generalised lentiginosis | Familial generalized lentiginosis (disorder) | Familial generalized lentiginosis | Familial multiple lentigines syndrome without systemic involvement | Familial lentigines profusa,SNOMEDCT ID:765195000,,,,,,,,,, +BMGC_DS17138,BMG_DS065893,Distal myotilinopathy,UMLS ID:C4707358,Distal myotilinopathy | Distal myotilinopathy (disorder),SNOMEDCT ID:765196004,,,,,,,,,, +BMGC_DS17139,BMG_DS065894,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier,UMLS ID:C4707359,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier (disorder),SNOMEDCT ID:765197008,,,symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,MONDO:0016097,,,,,, +BMGC_DS17140,BMG_DS065895,,UMLS ID:C4707361,,,,,familial multiple meningioma,MONDO:0016995,,,,,, +BMGC_DS17141,BMG_DS065909,"Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome",UMLS ID:C4707403,"Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)",SNOMEDCT ID:765327005,,,,,,,,,, +BMGC_DS17142,BMG_DS065929,Acute encephalopathy with biphasic seizures and late reduced diffusion,UMLS ID:C4707658,Acute encephalopathy with biphasic seizures and late reduced diffusion | Acute infantile encephalopathy predominantly affecting frontal lobe | Acute encephalopathy with biphasic seizures and late reduced diffusion (disorder),SNOMEDCT ID:766044005,,,acute encephalopathy with biphasic seizures and late reduced diffusion,MONDO:0018198,,,,,, +BMGC_DS17143,BMG_DS065933,Distal monosomy 15q,UMLS ID:C4707662,Distal 15q deletion syndrome | Monosomy 15q26 | Distal monosomy 15q | 15q26 deletion syndrome | Telomeric 15q deletion syndrome | Distal monosomy 15q syndrome | Distal monosomy 15q syndrome (disorder),SNOMEDCT ID:766050000,,,,,,,,,, +BMGC_DS17144,BMG_DS065953,Multiple epiphyseal dysplasia due to collagen 9 anomaly,UMLS ID:C4707798,Multiple epiphyseal dysplasia due to collagen 9 anomaly | Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder),SNOMEDCT ID:766717008,,,multiple epiphyseal dysplasia due to collagen 9 anomaly,MONDO:0015627,,,,,, +BMGC_DS17145,BMG_DS065962,1p31p32 microdeletion syndrome,UMLS ID:C4707828,1p31p32 microdeletion syndrome | Monosomy 1p31p32 | 1p31p32 microdeletion syndrome (disorder),SNOMEDCT ID:766766005,,,chromosome 1p32-p31 deletion syndrome,MONDO:0013396,,,,,, +BMGC_DS17146,BMG_DS065963,Autosomal recessive spastic paraplegia type 67,UMLS ID:C4707829,Autosomal recessive spastic paraplegia type 67 (disorder) | Autosomal recessive spastic paraplegia type 67,SNOMEDCT ID:766767001,,,autosomal recessive spastic paraplegia type 67,MONDO:0018419,,,,,, +BMGC_DS17147,BMG_DS065968,Short stature due to growth hormone secretagogue receptor deficiency,UMLS ID:C4707848,Short stature due to GHSR (growth hormone secretagogue receptor) deficiency | Short stature due to growth hormone secretagogue receptor deficiency | Short stature due to growth hormone secretagogue receptor deficiency (disorder) | Short stature due to GHSR deficiency | Ghrelin receptor deficiency,SNOMEDCT ID:766817004,,,,,,,,,, +BMGC_DS17148,BMG_DS065969,X-linked non progressive cerebellar ataxia,UMLS ID:C4707849,X-linked non progressive cerebellar ataxia (disorder) | X-linked non progressive cerebellar ataxia | X-linked spinocerebellar ataxia type 5,SNOMEDCT ID:766818009,,,,,,,,,, +BMGC_DS17149,BMG_DS065971,"Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome",UMLS ID:C4707851,"Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) | Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome",SNOMEDCT ID:766821006,,,,,,,,,, +BMGC_DS17150,BMG_DS065974,Diencephalic mesencephalic junction dysplasia,UMLS ID:C4707858,Diencephalic mesencephalic junction dysplasia (disorder) | Diencephalic mesencephalic junction dysplasia,SNOMEDCT ID:766871009,,,diencephalic-mesencephalic junction dysplasia,MONDO:0017868,,,,,, +BMGC_DS17151,BMG_DS065977,Combined immunodeficiency due to OX40 deficiency,UMLS ID:C4707864,Combined immunodeficiency due to OX40 deficiency | Combined immunodeficiency due to OX40 deficiency (disorder) | Combined immunodeficiency with childhood-onset Kaposi sarcoma,SNOMEDCT ID:766879006,,,,,,,,,, +BMGC_DS17152,BMG_DS065978,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,UMLS ID:C4707865,Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation | Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation (disorder),SNOMEDCT ID:766883006,,,,,,,,,, +BMGC_DS17153,BMG_DS065980,Hypomyelination neuropathy arthrogryposis syndrome,UMLS ID:C4707882,Hypomyelination neuropathy arthrogryposis syndrome (disorder) | Hypomyelination neuropathy arthrogryposis syndrome,SNOMEDCT ID:766931003,,,,,,,,,, +BMGC_DS17154,BMG_DS065983,,UMLS ID:C4707885,,,,,isolated unilateral hemispheric cerebellar hypoplasia,MONDO:0017112,,,,,, +BMGC_DS17155,BMG_DS065986,Severe early-onset axonal neuropathy due to mitofusin 2 deficiency,UMLS ID:C4707897,Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency | Severe early-onset axonal neuropathy due to MFN2 deficiency | Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type | Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) | Severe early-onset axonal neuropathy due to mitofusin 2 deficiency,SNOMEDCT ID:766977007,,,severe early-onset axonal neuropathy due to MFN2 deficiency,MONDO:0019549,,,,,, +BMGC_DS17156,BMG_DS065991,Immunodeficiency due to ficolin 3 deficiency,UMLS ID:C4707940,Immunodeficiency due to ficolin-3 deficiency | Immunodeficiency due to ficolin 3 deficiency (disorder) | Immunodeficiency due to ficolin 3 deficiency,SNOMEDCT ID:766705006,,,,,,,,,, +BMGC_DS17157,BMG_DS066017,Anemia due to and following chemotherapy,UMLS ID:C4708167,Anemia due to and following chemotherapy | Anemia due to and following chemotherapy (disorder) | Anaemia due to and following chemotherapy,SNOMEDCT ID:767657005,,,,,,,,,, +BMGC_DS17158,BMG_DS066048,PURA syndrome,UMLS ID:C4708498,"Purine rich element binding protein A syndrome | PURA-related neurodevelopmental disorder | PURA (purine rich element binding protein A) syndrome | Purine rich element binding protein A syndrome (disorder) | PURA syndrome | PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome",SNOMEDCT ID:768473009,,,,,,,,,, +BMGC_DS17159,BMG_DS066052,5q31.3 microdeletion syndrome,UMLS ID:C4708510,"Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion | 5q31.3 microdeletion syndrome (disorder) | 5q31.3 microdeletion syndrome",SNOMEDCT ID:768555009,,,severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,MONDO:0017811,,,,,, +BMGC_DS17160,BMG_DS066077,,UMLS ID:C4708599,,,,,coloboma of choroid and retina,MONDO:0020354,,,,,, +BMGC_DS17161,BMG_DS066092,Vaso-occlusive pain episode in sickle cell disease,UMLS ID:C4708695,Vaso-occlusive pain co-occurrent and due to sickle cell disease (disorder) | Vaso-occlusive pain episode in sickle cell disease | Vaso-occlusive pain co-occurrent and due to sickle cell disease | Vasoocclusive pain episode in sickle cell disease,SNOMEDCT ID:769167005,,,,,,,,,, +BMGC_DS17162,BMG_DS066184,Heterophoria,UMLS ID:C4721400,Latent squint | Phoria | Phoria (disorder),SNOMEDCT ID:14619009,Heterophoria,ICD11 ID:9C80.4,,,Strabismus,MeSH ID:D013285,,,ICD10 ID:H50.5, +BMGC_DS17163,BMG_DS066185,"Angioma serpiginosum, X-linked",UMLS ID:C4721404,,,,,"angioma serpiginosum, X-linked",MONDO:0010391,,MeSH ID:C536366,,,,OMIM ID:300652 +BMGC_DS17164,BMG_DS066188,,UMLS ID:C4721414,,,,,mantle cell lymphoma,MONDO:0018876,,,,,, +BMGC_DS17165,BMG_DS066189,,UMLS ID:C4721429,,,,,"thyroid cancer, nonmedullary, 1",MONDO:0008567,,,,,,OMIM ID:188550 +BMGC_DS17166,BMG_DS066190,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE",UMLS ID:C4721436,,,,,Charcot-Marie-Tooth disease type 4E,MONDO:0011527,,,,,,OMIM ID:129010 | OMIM ID:605253 +BMGC_DS17167,BMG_DS066191,"Charcot-Marie-Tooth disease, Type 4E",UMLS ID:C4721437,,,,,,,,MeSH ID:C535301,,,, +BMGC_DS17168,BMG_DS066196,Peripheral Nervous System Diseases,UMLS ID:C4721453,,,,,,,Peripheral Nervous System Diseases,MeSH ID:D010523,,,, +BMGC_DS17169,BMG_DS066197,Peripheral dysostosis,UMLS ID:C4721502,Peripheral dysostosis (disorder) | Peripheral dysostosis,SNOMEDCT ID:773985008,,,peripheral dysostosis,MONDO:0008227,,,,,,OMIM ID:170700 +BMGC_DS17170,BMG_DS066199,"Alveolitis, Fibrosing",UMLS ID:C4721507,,,,,,,Pulmonary Fibrosis,MeSH ID:D011658,,,, +BMGC_DS17171,BMG_DS066200,Usual Interstitial Pneumonia,UMLS ID:C4721509,,,,,,,Idiopathic Pulmonary Fibrosis,MeSH ID:D054990,,,, +BMGC_DS17172,BMG_DS066201,,UMLS ID:C4721532,,,,,"lymphoma, non-Hodgkin, familial",MONDO:0011508,,,,,,OMIM ID:605027 +BMGC_DS17173,BMG_DS066202,PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER),UMLS ID:C4721541,,,,,peroxisome biogenesis disorder 1A (Zellweger),MONDO:0008953,,,peroxisome biogenesis disorder 1A,DOID:0080476,,OMIM ID:214100 | OMIM ID:602136 +BMGC_DS17174,BMG_DS066203,Autosomal dominant neovascular inflammatory vitreoretinopathy,UMLS ID:C4721549,Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) | Autosomal dominant neovascular inflammatory vitreoretinopathy,SNOMEDCT ID:770791000,,,CAPN5-related vitreoretinopathy,MONDO:0100450,,,,,,OMIM ID:193235 +BMGC_DS17175,BMG_DS066204,Autoimmune hepatitis,UMLS ID:C4721555,Chronic active hepatitis | Chronic active hepatitis (disorder) | Autoimmune hepatitis (disorder) | Autoimmune hepatitis,SNOMEDCT ID:68784009 | SNOMEDCT ID:408335007,Autoimmune hepatitis,ICD11 ID:DB96.0,autoimmune hepatitis,MONDO:0016264,,,,,ICD10 ID:K75.4,OMIM ID:MTHU067664 +BMGC_DS17176,BMG_DS066205,,UMLS ID:C4721610,,,,,ovarian carcinoma,MONDO:0005140,,,,,, +BMGC_DS17177,BMG_DS066207,Citrullinemia Type 1,UMLS ID:C4721769,,,,,citrullinemia type I,MONDO:0008988,Citrullinemia,MeSH ID:D020159,,,,OMIM ID:215700 +BMGC_DS17178,BMG_DS066210,,UMLS ID:C4721806,,,,,skin basal cell carcinoma,MONDO:0005341,,,,,, +BMGC_DS17179,BMG_DS066212,"Marfan Syndrome, Type I",UMLS ID:C4721845,,,,,,,Marfan Syndrome,MeSH ID:D008382,,,, +BMGC_DS17180,BMG_DS066213,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1",UMLS ID:C4721885,,,,,autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6),MONDO:0021018,,,,,,OMIM ID:603511 | OMIM ID:611332 +BMGC_DS17181,BMG_DS066214,"MYOPATHY, MYOFIBRILLAR, 4",UMLS ID:C4721886,,,,,myofibrillar myopathy 4,MONDO:0012277,,,myofibrillar myopathy 4,DOID:0080095,,OMIM ID:605906 | OMIM ID:609452 +BMGC_DS17182,BMG_DS066215,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A",UMLS ID:C4721887,,,,,Charcot-Marie-Tooth disease type 2A2,MONDO:0012231,,,,,,OMIM ID:609260 +BMGC_DS17183,BMG_DS066216,Congenital External Ophthalmoplegia,UMLS ID:C4721888,,,,,,,,MeSH ID:C580012,congenital fibrosis of the extraocular muscles,DOID:0080143,, +BMGC_DS17184,BMG_DS066217,SPERMATOGENIC FAILURE 3,UMLS ID:C4721889,,,,,spermatogenic failure 3,MONDO:0011720,,,spermatogenic failure 3,DOID:0070168,,OMIM ID:606766 | OMIM ID:608480 +BMGC_DS17185,BMG_DS066218,"CATARACT 2, MULTIPLE TYPES",UMLS ID:C4721890,,,,,"cataract 2, multiple types",MONDO:0100436,,,,,,OMIM ID:604307 +BMGC_DS17186,BMG_DS066219,"HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT",UMLS ID:C4721891,,,,,renal hypomagnesemia 5 with ocular involvement,MONDO:0009548,,,,,,OMIM ID:248190 | OMIM ID:610036 +BMGC_DS17187,BMG_DS066221,POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1,UMLS ID:C4721893,,,,,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1,MONDO:0020749,,,,,,OMIM ID:604142 | OMIM ID:221770 +BMGC_DS17188,BMG_DS066222,Hereditary Motor-Sensory Neuropathy with Pyramidal Signs,UMLS ID:C4721916,,,,,Charcot-Marie-Tooth disease type 5,MONDO:0010877,"Spastic Paraplegia, Hereditary",MeSH ID:D015419,,,,OMIM ID:600361 +BMGC_DS17189,BMG_DS066224,Familial Idiopathic Pulmonary Fibrosis,UMLS ID:C4721952,,,,,,,Idiopathic Pulmonary Fibrosis,MeSH ID:D054990,,,, +BMGC_DS17190,BMG_DS066228,Hypoprothrombinemias,UMLS ID:C4722227,,,,,prothrombin deficiency,MONDO:0024307,Hypoprothrombinemias,MeSH ID:D007020,,,, +BMGC_DS17191,BMG_DS066229,,UMLS ID:C4722258,,,,,"epidermodysplasia verruciformis, susceptibility to, 2",MONDO:0032614,,,,,,OMIM ID:618231 +BMGC_DS17192,BMG_DS066230,"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV",UMLS ID:C4722273,,,,,"isolated growth hormone deficiency, type 4",MONDO:0032567,,,,,,OMIM ID:618157 | OMIM ID:139191 +BMGC_DS17193,BMG_DS066232,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 2",UMLS ID:C4722277,,,,,"neuropathy, congenital hypomyelinating, 2",MONDO:0020765,,,,,,OMIM ID:159440 | OMIM ID:618184 +BMGC_DS17194,BMG_DS066234,"HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE",UMLS ID:C4722305,,,,,combined immunodeficiency due to DOCK8 deficiency,MONDO:0009478,,,hyper IgE recurrent infection syndrome 2,DOID:0080594,,OMIM ID:243700 +BMGC_DS17195,BMG_DS066237,,UMLS ID:C4722327,,,,,"prostate cancer, hereditary, 1",MONDO:0011098,,,,,,OMIM ID:601518 +BMGC_DS17196,BMG_DS066239,Generalized Thyroid Hormone Resistance,UMLS ID:C4722330,,,,,generalized resistance to thyroid hormone,MONDO:0009043,Thyroid Hormone Resistance Syndrome,MeSH ID:D018382,,,, +BMGC_DS17197,BMG_DS066242,MOYAMOYA DISEASE 6 WITH ACHALASIA,UMLS ID:C4722422,,,,,,,,,,,,OMIM ID:139396 +BMGC_DS17198,BMG_DS066243,"ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION",UMLS ID:C4722446,,,,,"encephalitis/encephalopathy, mild, with reversible myelin vacuolization",MONDO:0020853,,,,,,OMIM ID:608329 | OMIM ID:618113 +BMGC_DS17199,BMG_DS066244,PLCG2-associated antibody deficiency and immune dysregulation,UMLS ID:C4722480,PLCG2-associated antibody deficiency and immune dysregulation | PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | FACU - familial atypical cold urticaria | Familial cold urticaria with common variable immunodeficiency,SNOMEDCT ID:773646003,,,,,,,,,, +BMGC_DS17200,BMG_DS066247,,UMLS ID:C4722564,,,,,"epidermodysplasia verruciformis, susceptibility to, 1",MONDO:0100045,,,,,,OMIM ID:226400 +BMGC_DS17201,BMG_DS066252,,UMLS ID:C4727832,,,,,telomere syndrome,MONDO:0100137,,,,,, +BMGC_DS17202,BMG_DS066256,,UMLS ID:C4728213,,,,,PIK3CA-related overgrowth spectrum,MONDO:1040002,,,,,, +BMGC_DS17203,BMG_DS066278,LYMPHATIC MALFORMATION 5,UMLS ID:C4746631,,,,,lymphatic malformation 5,MONDO:0007920,,,,,,OMIM ID:153200 +BMGC_DS17204,BMG_DS066279,"ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE",UMLS ID:C4746745,,,,,autosomal recessive Alport syndrome,MONDO:0008762,,,autosomal recessive Alport syndrome,DOID:0110033,,OMIM ID:203780 | OMIM ID:120131 +BMGC_DS17205,BMG_DS066280,"MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 1",UMLS ID:C4746755,,,,,,,,,,,,OMIM ID:210900 +BMGC_DS17206,BMG_DS066281,ORTHOSTATIC HYPOTENSION 1,UMLS ID:C4746777,,,,,orthostatic hypotension 1,MONDO:0009123,,,,,,OMIM ID:223360 | OMIM ID:609312 +BMGC_DS17207,BMG_DS066284,,UMLS ID:C4746851,,,,,proteasome-associated autoinflammatory syndrome 1,MONDO:0054698,,,,,,OMIM ID:256040 +BMGC_DS17208,BMG_DS066290,,UMLS ID:C4746956,,,,,"osteogenesis imperfecta, type 19",MONDO:0049223,,,,,,OMIM ID:301014 +BMGC_DS17209,BMG_DS066291,"HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED",UMLS ID:C4746970,,,,,X-linked congenital hemolytic anemia,MONDO:0060455,,,X-linked congenital hemolytic anemia,DOID:0111846,,OMIM ID:300516 | OMIM ID:301015 +BMGC_DS17210,BMG_DS066292,"DEAFNESS, X-LINKED 7",UMLS ID:C4746975,,,,,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,MONDO:0044702,,,X-linked deafness 7,DOID:0111738,,OMIM ID:300969 | OMIM ID:301018 +BMGC_DS17211,BMG_DS066293,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12",UMLS ID:C4746984,,,,,"mitochondrial complex 1 deficiency, nuclear type 12",MONDO:0026720,,,nuclear type mitochondrial complex I deficiency 12,DOID:0112099,,OMIM ID:300078 | OMIM ID:301020 +BMGC_DS17212,BMG_DS066294,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30",UMLS ID:C4746985,,,,,"mitochondrial complex 1 deficiency, nuclear type 30",MONDO:0026721,,,nuclear type mitochondrial complex I deficiency 30,DOID:0112098,,OMIM ID:301021 | OMIM ID:300403 +BMGC_DS17213,BMG_DS066295,"ALPORT SYNDROME 1, X-LINKED",UMLS ID:C4746986,,,,,X-linked Alport syndrome,MONDO:0010520,,,X-linked Alport syndrome,DOID:0110034,,OMIM ID:301050 | OMIM ID:303630 +BMGC_DS17214,BMG_DS066296,"MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1",UMLS ID:C4746992,,,,,"mitochondrial complex 1 deficiency, mitochondrial type 1",MONDO:0027068,,,mitochondrial type mitochondrial complex I deficiency 1,DOID:0112101,,OMIM ID:500014 | OMIM ID:516002 +BMGC_DS17215,BMG_DS066297,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1,UMLS ID:C4747394,,,,,capillary malformation-arteriovenous malformation 1,MONDO:0020783,,,,,,OMIM ID:139150 | OMIM ID:608354 | OMIM ID:608355 | OMIM ID:608354 +BMGC_DS17216,BMG_DS066298,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20",UMLS ID:C4747517,,,,,acyl-CoA dehydrogenase 9 deficiency,MONDO:0012624,,,,,,OMIM ID:611103 | OMIM ID:611126 +BMGC_DS17217,BMG_DS066299,LYMPHATIC MALFORMATION 2,UMLS ID:C4747568,,,,,lymphatic malformation 2,MONDO:0012765,,,hereditary lymphedema IB,DOID:0070211,,OMIM ID:611944 +BMGC_DS17218,BMG_DS066301,LYMPHATIC MALFORMATION 3,UMLS ID:C4747646,,,,,lymphatic malformation 3,MONDO:0013278,,,hereditary lymphedema IC,DOID:0070208,,OMIM ID:608803 | OMIM ID:613480 +BMGC_DS17219,BMG_DS066302,,UMLS ID:C4747658,,,,,"short-rib thoracic dysplasia 7/20 with polydactyly, digenic",MONDO:0800356,,,,,, +BMGC_DS17220,BMG_DS066303,,UMLS ID:C4747715,,,,,autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures,MONDO:0014121,,,,,,OMIM ID:615290 +BMGC_DS17221,BMG_DS066304,RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS,UMLS ID:C4747737,,,,,retinitis pigmentosa with or without situs inversus,MONDO:0014186,,,,,,OMIM ID:615434 | OMIM ID:615407 +BMGC_DS17222,BMG_DS066305,IMMUNODEFICIENCY 15B,UMLS ID:C4747743,,,,,severe combined immunodeficiency due to IKK2 deficiency,MONDO:0014267,,,immunodeficiency 15B,DOID:0111959,,OMIM ID:603258 | OMIM ID:615592 +BMGC_DS17223,BMG_DS066306,LYMPHATIC MALFORMATION 4,UMLS ID:C4747769,,,,,lymphatic malformation 4,MONDO:0014393,,,hereditary lymphedema ID,DOID:0070209,,OMIM ID:601528 | OMIM ID:615907 +BMGC_DS17224,BMG_DS066308,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3,UMLS ID:C4747850,,,,,proteasome-associated autoinflammatory syndrome 3,MONDO:0054699,,,proteasome-associated autoinflammatory syndrome 3,DOID:0060916,,OMIM ID:617591 +BMGC_DS17225,BMG_DS066309,"HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES",UMLS ID:C4747885,,,,,"hydrocephalus, congenital, 3, with brain anomalies",MONDO:0054794,,,,,,OMIM ID:617967 | OMIM ID:614218 +BMGC_DS17226,BMG_DS066310,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17,UMLS ID:C4747891,,,,,glycosylphosphatidylinositol biosynthesis defect 17,MONDO:0060724,,,,,,OMIM ID:600154 | OMIM ID:618010 +BMGC_DS17227,BMG_DS066311,Regressive spondylometaphyseal dysplasia,UMLS ID:C4747922,Regressive spondylometaphyseal dysplasia | Regressive spondylometaphyseal dysplasia (disorder),SNOMEDCT ID:1237412001,,,regressive spondylometaphyseal dysplasia,MONDO:0018663,,,,,,OMIM ID:618019 +BMGC_DS17228,BMG_DS066312,TETRAAMELIA SYNDROME 2,UMLS ID:C4747923,,,,,tetraamelia syndrome 2,MONDO:0060732,,,tetraamelia syndrome 2,DOID:0112193,,OMIM ID:610575 | OMIM ID:618021 +BMGC_DS17229,BMG_DS066313,,UMLS ID:C4747940,,,,,humerofemoral hypoplasia with radiotibial ray deficiency,MONDO:0060733,,,,,,OMIM ID:618022 +BMGC_DS17230,BMG_DS066314,COFFIN-SIRIS SYNDROME 7,UMLS ID:C4747954,,,,,Coffin-Siris syndrome 7,MONDO:0054831,,,Coffin-Siris syndrome 7,DOID:0112369,,OMIM ID:618027 | OMIM ID:601671 +BMGC_DS17231,BMG_DS066315,"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4",UMLS ID:C4747961,,,,,"corneal dystrophy, posterior polymorphous, 4",MONDO:0054832,,,posterior polymorphous corneal dystrophy 4,DOID:0080669,,OMIM ID:618031 | OMIM ID:608576 +BMGC_DS17232,BMG_DS066316,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD",UMLS ID:C4747974,,,,,"charcot-marie-tooth disease, axonal, type 2DD",MONDO:0054833,,,Charcot-Marie-Tooth disease type 2DD,DOID:0111558,,OMIM ID:182310 | OMIM ID:618036 +BMGC_DS17233,BMG_DS066317,IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA,UMLS ID:C4747984,,,,,pulmonary alveolar proteinosis with hypogammaglobulinemia,MONDO:0020840,,,,,,OMIM ID:164350 | OMIM ID:618042 +BMGC_DS17234,BMG_DS066318,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2,UMLS ID:C4747989,,,,,proteasome-associated autoinflammatory syndrome 2,MONDO:0054700,,,proteosome-associated autoinflammatory syndrome 2,DOID:0060914,,OMIM ID:613386 | OMIM ID:618048 +BMGC_DS17235,BMG_DS066319,,UMLS ID:C4747991,,,,,,,,,infantile parkinsonism-dystonia 2,DOID:0070490,, +BMGC_DS17236,BMG_DS066320,,UMLS ID:C4748003,,,,,"intellectual disability, autosomal dominant 57",MONDO:0054837,,,,,,OMIM ID:618050 +BMGC_DS17237,BMG_DS066321,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27",UMLS ID:C4748014,,,,,"cardiomyopathy, familial hypertrophic 27",MONDO:0054838,,,,,,OMIM ID:617608 | OMIM ID:618052 +BMGC_DS17238,BMG_DS066322,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES,UMLS ID:C4748032,,,,,neurodevelopmental disorder with cerebellar atrophy and with or without seizures,MONDO:0020841,,,,,,OMIM ID:618056 | OMIM ID:614506 +BMGC_DS17239,BMG_DS066323,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA,UMLS ID:C4748041,,,,,intellectual developmental disorder with or without epilepsy or cerebellar ataxia,MONDO:0060745,,,,,,OMIM ID:618060 +BMGC_DS17240,BMG_DS066324,POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE,UMLS ID:C4748044,,,,,polycystic kidney disease 6 with or without polycystic liver disease,MONDO:0054842,,,polycystic kidney disease 6,DOID:0060951,,OMIM ID:618061 | OMIM ID:611341 +BMGC_DS17241,BMG_DS066325,"CILIARY DYSKINESIA, PRIMARY, 38",UMLS ID:C4748052,,,,,"ciliary dyskinesia, primary, 38",MONDO:0054843,,,primary ciliary dyskinesia 38,DOID:0111852,,OMIM ID:618058 | OMIM ID:618063 +BMGC_DS17242,BMG_DS066326,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1D",UMLS ID:C4748058,,,,,"pontocerebellar hypoplasia, type 1D",MONDO:0054844,,,pontocerebellar hypoplasia type 1D,DOID:0112323,,OMIM ID:606180 | OMIM ID:618065 +BMGC_DS17243,BMG_DS066327,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66,UMLS ID:C4748070,,,,,"developmental and epileptic encephalopathy, 66",MONDO:0054845,,,developmental and epileptic encephalopathy 66,DOID:0080446,,OMIM ID:610423 | OMIM ID:618067 +BMGC_DS17244,BMG_DS066328,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6",UMLS ID:C4748079,,,,,"epilepsy, familial adult myoclonic, 6",MONDO:0054846,,,familial adult myoclonic epilepsy 6,DOID:0111696,,OMIM ID:610739 | OMIM ID:618074 +BMGC_DS17245,BMG_DS066329,"EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7",UMLS ID:C4748080,,,,,"epilepsy, familial adult myoclonic, 7",MONDO:0054847,,,familial adult myoclonic epilepsy 7,DOID:0111694,,OMIM ID:618075 | OMIM ID:609530 +BMGC_DS17246,BMG_DS066330,NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH,UMLS ID:C4748081,,,,,neurodevelopmental disorder with spasticity and poor growth,MONDO:0060752,,,neurodevelopmental disorder with spasticity and poor growth,DOID:0070421,,OMIM ID:618076 | OMIM ID:610554 +BMGC_DS17247,BMG_DS066331,INFLAMMATORY BOWEL DISEASE 29,UMLS ID:C4748083,,,,,inflammatory bowel disease 29,MONDO:0054849,,,inflammatory bowel disease 29,DOID:0112155,,OMIM ID:618077 | OMIM ID:618051 +BMGC_DS17248,BMG_DS066332,OVARIAN DYSGENESIS 6,UMLS ID:C4748084,,,,,ovarian dysgenesis 6,MONDO:0054850,,,ovarian dysgenesis 6,DOID:0080498,,OMIM ID:607617 | OMIM ID:618078 +BMGC_DS17249,BMG_DS066333,PEELING SKIN SYNDROME 6,UMLS ID:C4748093,,,,,peeling skin syndrome 6,MONDO:0054852,,,peeling skin syndrome 6,DOID:0070525,,OMIM ID:616284 | OMIM ID:618084 +BMGC_DS17250,BMG_DS066334,SPERMATOGENIC FAILURE 28,UMLS ID:C4748117,,,,,spermatogenic failure 28,MONDO:0054732,,,spermatogenic failure 28,DOID:0111916,,OMIM ID:609644 | OMIM ID:618086 +BMGC_DS17251,BMG_DS066336,"SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS",UMLS ID:C4748120,,,,,"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits",MONDO:0060758,,,,,,OMIM ID:604065 | OMIM ID:618087 +BMGC_DS17252,BMG_DS066337,"NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES",UMLS ID:C4748127,,,,,"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures",MONDO:0060759,,,"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures",DOID:0081327,,OMIM ID:618088 | OMIM ID:611720 +BMGC_DS17253,BMG_DS066338,INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES,UMLS ID:C4748135,,,,,intellectual developmental disorder with dysmorphic facies and behavioral abnormalities,MONDO:0060760,,,,,,OMIM ID:607871 | OMIM ID:618089 +BMGC_DS17254,BMG_DS066339,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM,UMLS ID:C4748137,,,,,neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum,MONDO:0060761,,,,,,OMIM ID:610236 | OMIM ID:618090 +BMGC_DS17255,BMG_DS066340,SPERMATOGENIC FAILURE 29,UMLS ID:C4748142,,,,,spermatogenic failure 29,MONDO:0054733,,,spermatogenic failure 29,DOID:0111930,,OMIM ID:605753 | OMIM ID:618091 +BMGC_DS17256,BMG_DS066341,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES",UMLS ID:C4748152,,,,,"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities",MONDO:0060763,,,,,,OMIM ID:618092 +BMGC_DS17257,BMG_DS066342,SPINOCEREBELLAR ATAXIA 48,UMLS ID:C4748158,,,,,spinocerebellar ataxia 48,MONDO:0032526,,,cerebellar ataxia type 48,DOID:0111746,,OMIM ID:607207 | OMIM ID:618093 +BMGC_DS17258,BMG_DS066343,"DEAFNESS, AUTOSOMAL RECESSIVE 110",UMLS ID:C4748162,,,,,"hearing loss, autosomal recessive 110",MONDO:0054860,,,autosomal recessive nonsyndromic deafness 110,DOID:0111644,,OMIM ID:603196 | OMIM ID:618094 +BMGC_DS17259,BMG_DS066344,,UMLS ID:C4748167,,,,,"intellectual disability, autosomal recessive 63",MONDO:0054861,,,,,,OMIM ID:618095 +BMGC_DS17260,BMG_DS066345,PREMATURE OVARIAN FAILURE 15,UMLS ID:C4748170,,,,,premature ovarian failure 15,MONDO:0054862,,,primary ovarian insufficiency 15,DOID:0080872,,OMIM ID:618096 | OMIM ID:609644 +BMGC_DS17261,BMG_DS066346,"MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2",UMLS ID:C4748176,,,,,"microcephaly, growth restriction, and increased sister chromatid exchange 2",MONDO:0020628,,,,,,OMIM ID:601243 | OMIM ID:618097 +BMGC_DS17262,BMG_DS066347,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5",UMLS ID:C4748184,,,,,"progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5",MONDO:0020845,,,autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5,DOID:0111524,,OMIM ID:601243 | OMIM ID:618098 +BMGC_DS17263,BMG_DS066348,,UMLS ID:C4748192,,,,,"intellectual disability, autosomal recessive 64",MONDO:0020846,,,,,,OMIM ID:618103 +BMGC_DS17264,BMG_DS066349,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 58",UMLS ID:C4748195,,,,,"intellectual disability, autosomal dominant 58",MONDO:0020847,,,,,,OMIM ID:618106 | OMIM ID:600960 +BMGC_DS17265,BMG_DS066350,"OSTEOPETROSIS, AUTOSOMAL DOMINANT 3",UMLS ID:C4748197,,,,,"osteopetrosis, autosomal dominant 3",MONDO:0020848,,,,,,OMIM ID:611466 | OMIM ID:618107 +BMGC_DS17266,BMG_DS066351,IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION,UMLS ID:C4748212,,,,,immunodeficiency 57,MONDO:0020849,,,immunodeficiency 57,DOID:0111952,,OMIM ID:618108 | OMIM ID:603453 +BMGC_DS17267,BMG_DS066352,,UMLS ID:C4748219,,,,,"intellectual disability, autosomal recessive 65",MONDO:0020850,,,,,,OMIM ID:618109 +BMGC_DS17268,BMG_DS066353,SPERMATOGENIC FAILURE 30,UMLS ID:C4748224,,,,,spermatogenic failure 30,MONDO:0020851,,,spermatogenic failure 30,DOID:0111913,,OMIM ID:617963 | OMIM ID:618110 +BMGC_DS17269,BMG_DS066354,SPERMATOGENIC FAILURE 31,UMLS ID:C4748234,,,,,spermatogenic failure 31,MONDO:0020852,,,spermatogenic failure 31,DOID:0111922,,OMIM ID:618085 | OMIM ID:618112 +BMGC_DS17270,BMG_DS066355,LIDDLE SYNDROME 2,UMLS ID:C4748251,,,,,Liddle syndrome 2,MONDO:0020854,,,,,,OMIM ID:600761 | OMIM ID:618114 +BMGC_DS17271,BMG_DS066356,SPERMATOGENIC FAILURE 32,UMLS ID:C4748253,,,,,spermatogenic failure 32,MONDO:0020855,,,spermatogenic failure 32,DOID:0111925,,OMIM ID:610224 | OMIM ID:618115 +BMGC_DS17272,BMG_DS066357,BONE MARROW FAILURE SYNDROME 4,UMLS ID:C4748257,,,,,bone marrow failure syndrome 4,MONDO:0020856,,,,,,OMIM ID:612176 | OMIM ID:618116 +BMGC_DS17273,BMG_DS066359,OVARIAN DYSGENESIS 7,UMLS ID:C4748263,,,,,ovarian dysgenesis 7,MONDO:0020857,,,ovarian dysgenesis 7,DOID:0080499,,OMIM ID:618117 | OMIM ID:605810 +BMGC_DS17274,BMG_DS066360,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5",UMLS ID:C4748269,,,,,mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5,MONDO:0020858,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 5,DOID:0070463,,OMIM ID:603150 | OMIM ID:618120 +BMGC_DS17275,BMG_DS066361,,UMLS ID:C4748277,,,,,"polydactyly, postaxial, type A8",MONDO:0029130,,,,,,OMIM ID:618123 +BMGC_DS17276,BMG_DS066362,"PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C4748283,,,,,"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development",MONDO:0029131,,,,,,OMIM ID:603294 | OMIM ID:618124 +BMGC_DS17277,BMG_DS066363,LIDDLE SYNDROME 3,UMLS ID:C4748292,,,,,Liddle syndrome 3,MONDO:0029132,,,,,,OMIM ID:600228 | OMIM ID:618126 +BMGC_DS17278,BMG_DS066364,Calpain-3-related limb girdle muscular dystrophy D4,UMLS ID:C4748295,Calpain-3-related limb girdle muscular dystrophy D4 | Calpain-3-related limb girdle muscular dystrophy D4 (disorder) | Limb girdle muscular dystrophy type D4,SNOMEDCT ID:1279886003,,,"muscular dystrophy, limb-girdle, autosomal dominant 4",MONDO:0029133,,,,,,OMIM ID:618129 +BMGC_DS17279,BMG_DS066365,IMMUNODEFICIENCY 58,UMLS ID:C4748304,,,,,severe combined immunodeficiency due to CARMIL2 deficiency,MONDO:0029134,,,immunodeficiency 58,DOID:0111984,,OMIM ID:610859 | OMIM ID:618131 +BMGC_DS17280,BMG_DS066366,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8",UMLS ID:C4748320,,,,,"muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8",MONDO:0029135,,,muscular dystrophy-dystroglycanopathy type C8,DOID:0112382,,OMIM ID:618135 | OMIM ID:614828 +BMGC_DS17281,BMG_DS066367,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23",UMLS ID:C4748327,,,,,"muscular dystrophy, limb-girdle, autosomal recessive 23",MONDO:0029136,,,,,,OMIM ID:156225 | OMIM ID:618138 +BMGC_DS17282,BMG_DS066368,"DEAFNESS, AUTOSOMAL DOMINANT 74",UMLS ID:C4748334,,,,,"hearing loss, autosomal dominant 74",MONDO:0029137,,,autosomal dominant nonsyndromic deafness 74,DOID:0112165,,OMIM ID:618140 | OMIM ID:602987 +BMGC_DS17283,BMG_DS066369,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67,UMLS ID:C4748341,,,,,"developmental and epileptic encephalopathy, 67",MONDO:0029138,,,developmental and epileptic encephalopathy 67,DOID:0112203,,OMIM ID:610648 | OMIM ID:618141 +BMGC_DS17284,BMG_DS066370,"MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME",UMLS ID:C4748348,,,,,"microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome",MONDO:0020647,,,,,,OMIM ID:617057 | OMIM ID:618142 +BMGC_DS17285,BMG_DS066371,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95,UMLS ID:C4748357,,,,,glycosylphosphatidylinositol biosynthesis defect 18,MONDO:0029140,,,developmental and epileptic encephalopathy 95,DOID:0070382,,OMIM ID:610271 | OMIM ID:618143 +BMGC_DS17286,BMG_DS066372,"USHER SYNDROME, TYPE IV",UMLS ID:C4748364,,,,,"Usher syndrome, type 4",MONDO:0029141,,,,,,OMIM ID:610008 | OMIM ID:618144 +BMGC_DS17287,BMG_DS066373,"DEAFNESS, AUTOSOMAL RECESSIVE 111",UMLS ID:C4748374,,,,,"hearing loss, autosomal recessive 111",MONDO:0029142,,,autosomal recessive nonsyndromic deafness 111,DOID:0111640,,OMIM ID:604873 | OMIM ID:618145 +BMGC_DS17288,BMG_DS066374,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES,UMLS ID:C4748381,,,,,intellectual developmental disorder with hypertelorism and distinctive facies,MONDO:0029143,,,,,,OMIM ID:618147 | OMIM ID:603544 +BMGC_DS17289,BMG_DS066375,Autosomal recessive extra-oral halitosis,UMLS ID:C4748387,Methanethiol oxidase deficiency | MTO (methanethiol oxidase) deficiency | Autosomal recessive extra-oral halitosis | Autosomal recessive extra-oral halitosis (disorder),SNOMEDCT ID:1269235004,,,extraoral halitosis due to methanethiol oxidase deficiency,MONDO:0029144,,,,,,OMIM ID:618148 +BMGC_DS17290,BMG_DS066376,SPERMATOGENIC FAILURE 33,UMLS ID:C4748395,,,,,spermatogenic failure 33,MONDO:0029147,,,spermatogenic failure 33,DOID:0111915,,OMIM ID:618152 | OMIM ID:618146 +BMGC_DS17291,BMG_DS066377,SPERMATOGENIC FAILURE 34,UMLS ID:C4748403,,,,,spermatogenic failure 34,MONDO:0029148,,,spermatogenic failure 34,DOID:0111911,,OMIM ID:615796 | OMIM ID:618153 +BMGC_DS17292,BMG_DS066378,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3,UMLS ID:C4748408,,,,,hennekam lymphangiectasia-lymphedema syndrome 3,MONDO:0032564,,,,,,OMIM ID:605011 | OMIM ID:618154 +BMGC_DS17293,BMG_DS066379,"OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES",UMLS ID:C4748418,,,,,"ophthalmoplegia, external, with rib and vertebral anomalies",MONDO:0032565,,,,,,OMIM ID:159990 | OMIM ID:618155 +BMGC_DS17294,BMG_DS066380,SQUALENE SYNTHASE DEFICIENCY,UMLS ID:C4748427,,,,,squalene synthase deficiency,MONDO:0032566,,,,,,OMIM ID:184420 | OMIM ID:618156 +BMGC_DS17295,BMG_DS066381,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY",UMLS ID:C4748428,,,,,"intellectual developmental disorder with macrocephaly, seizures, and speech delay",MONDO:0032568,,,,,,OMIM ID:602590 | OMIM ID:618158 +BMGC_DS17296,BMG_DS066382,"PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7",UMLS ID:C4748435,,,,,"isolated growth hormone deficiency, type 5",MONDO:0032569,,,combined or isolated pituitary growth hormone deficiency 7,DOID:0061016,,OMIM ID:618160 +BMGC_DS17297,BMG_DS066383,JOUBERT SYNDROME 35,UMLS ID:C4748442,,,,,Joubert syndrome 35,MONDO:0032570,,,,,,OMIM ID:618161 | OMIM ID:604695 +BMGC_DS17298,BMG_DS066384,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE",UMLS ID:C4748455,,,,,"spondyloepimetaphyseal dysplasia, Krakow type",MONDO:0032571,,,,,,OMIM ID:618162 | OMIM ID:614776 +BMGC_DS17299,BMG_DS066385,,UMLS ID:C4748484,,,,,"cardiac, facial, and digital anomalies with developmental delay",MONDO:0032572,,,,,,OMIM ID:618164 +BMGC_DS17300,BMG_DS066386,BONE MARROW FAILURE SYNDROME 5,UMLS ID:C4748488,,,,,bone marrow failure syndrome 5,MONDO:0032573,,,,,,OMIM ID:191170 | OMIM ID:618165 +BMGC_DS17301,BMG_DS066387,"OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS",UMLS ID:C4748496,,,,,"osteochondrodysplasia, brachydactyly, and overlapping malformed digits",MONDO:0032574,,,,,,OMIM ID:618167 | OMIM ID:610128 +BMGC_DS17302,BMG_DS066388,DIARRHEA 9,UMLS ID:C4748517,,,,,diarrhea 9,MONDO:0032575,,,,,,OMIM ID:618168 | OMIM ID:601968 +BMGC_DS17303,BMG_DS066389,"NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES",UMLS ID:C4748527,,,,,"neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",MONDO:0100095,,,stress-induced childhood-onset neurodegeneration with variable ataxia and seizures,DOID:0070352,,OMIM ID:618170 | OMIM ID:610624 +BMGC_DS17304,BMG_DS066390,RETINITIS PIGMENTOSA 83,UMLS ID:C4748536,,,,,retinitis pigmentosa 83,MONDO:0032577,,,retinitis pigmentosa 83,DOID:0112140,,OMIM ID:618173 | OMIM ID:604695 +BMGC_DS17305,BMG_DS066391,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9",UMLS ID:C4748540,,,,,"cortical dysplasia, complex, with other brain malformations 9",MONDO:0032578,,,,,,OMIM ID:618174 | OMIM ID:114025 +BMGC_DS17306,BMG_DS066392,"NEPHROTIC SYNDROME, TYPE 17",UMLS ID:C4748545,,,,,"nephrotic syndrome, type 17",MONDO:0032580,,,nephrotic syndrome type 17,DOID:0080392,,OMIM ID:170285 | OMIM ID:618176 +BMGC_DS17307,BMG_DS066393,"NEPHROTIC SYNDROME, TYPE 18",UMLS ID:C4748549,,,,,"nephrotic syndrome, type 18",MONDO:0032581,,,nephrotic syndrome type 18,DOID:0080393,,OMIM ID:618177 | OMIM ID:607613 +BMGC_DS17308,BMG_DS066394,"NEPHROTIC SYNDROME, TYPE 19",UMLS ID:C4748552,,,,,"nephrotic syndrome, type 19",MONDO:0032582,,,nephrotic syndrome type 19,DOID:0080394,,OMIM ID:607614 | OMIM ID:618178 +BMGC_DS17309,BMG_DS066395,"MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C4748555,,,,,"microcephaly 24, primary, autosomal recessive",MONDO:0032583,,,,,,OMIM ID:609264 | OMIM ID:618179 +BMGC_DS17310,BMG_DS066396,"ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH OR WITHOUT HYPOHIDROSIS",UMLS ID:C4748560,,,,,"ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis",MONDO:0032584,,,ectodermal dysplasia 14,DOID:0111662,,OMIM ID:618180 +BMGC_DS17311,BMG_DS066399,ORTHOSTATIC HYPOTENSION 2,UMLS ID:C4748569,,,,,orthostatic hypotension 2,MONDO:0020751,,,,,,OMIM ID:600019 | OMIM ID:618182 +BMGC_DS17312,BMG_DS066400,"DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE",UMLS ID:C4748579,,,,,"diarrhea 10, protein-losing enteropathy type",MONDO:0032586,,,,,,OMIM ID:607647 | OMIM ID:618183 +BMGC_DS17313,BMG_DS066401,PERIVENTRICULAR NODULAR HETEROTOPIA 8,UMLS ID:C4748602,,,,,periventricular nodular heterotopia 8,MONDO:0032588,,,,,,OMIM ID:618185 | OMIM ID:103180 +BMGC_DS17314,BMG_DS066402,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 3",UMLS ID:C4748608,,,,,"neuropathy, congenital hypomyelinating, 3",MONDO:0020766,,,,,,OMIM ID:602346 | OMIM ID:618186 +BMGC_DS17315,BMG_DS066403,OVARIAN DYSGENESIS 8,UMLS ID:C4748626,,,,,ovarian dysgenesis 8,MONDO:0032590,,,ovarian dysgenesis 8,DOID:0080500,,OMIM ID:601663 | OMIM ID:618187 +BMGC_DS17316,BMG_DS066404,"CARDIOMYOPATHY, DILATED, 2C",UMLS ID:C4748647,,,,,"cardiomyopathy, dilated, 2c",MONDO:0032592,,,dilated cardiomyopathy 2C,DOID:0081159,,OMIM ID:618189 | OMIM ID:609853 +BMGC_DS17317,BMG_DS066405,POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2,UMLS ID:C4748657,,,,,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2,MONDO:0020750,,,,,,OMIM ID:605086 | OMIM ID:618193 +BMGC_DS17318,BMG_DS066406,INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA,UMLS ID:C4748658,,,,,intellectual developmental disorder and retinitis pigmentosa; IDDRP,MONDO:0032594,,,,,,OMIM ID:618195 | OMIM ID:611611 +BMGC_DS17319,BMG_DS066407,CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2,UMLS ID:C4748670,,,,,capillary malformation-arteriovenous malformation 2,MONDO:0020785,,,,,,OMIM ID:618196 | OMIM ID:600011 +BMGC_DS17320,BMG_DS066408,"MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC",UMLS ID:C4748678,,,,,"myasthenic syndrome, congenital, 23, presynaptic",MONDO:0032596,,,,,,OMIM ID:618197 | OMIM ID:190315 +BMGC_DS17321,BMG_DS066409,"MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC",UMLS ID:C4748684,,,,,"myasthenic syndrome, congenital, 24, presynaptic",MONDO:0032597,,,,,,OMIM ID:618198 +BMGC_DS17322,BMG_DS066410,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68,UMLS ID:C4748688,,,,,"developmental and epileptic encephalopathy, 68",MONDO:0032598,,,developmental and epileptic encephalopathy 68,DOID:0112204,,OMIM ID:608112 | OMIM ID:618201 +BMGC_DS17323,BMG_DS066411,IMMUNODEFICIENCY 15A,UMLS ID:C4748694,,,,,immunodeficiency 15a,MONDO:0032599,,,immunodeficiency 15A,DOID:0111960,,OMIM ID:603258 | OMIM ID:618204 +BMGC_DS17324,BMG_DS066412,Snijders Blok-Campeau syndrome,UMLS ID:C4748701,"Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | Snijders Blok-Campeau syndrome | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder)",SNOMEDCT ID:1179408008,,,Snijders Blok-Campeau syndrome,MONDO:0032600,,MeSH ID:C000729467,,,,OMIM ID:618205 +BMGC_DS17325,BMG_DS066413,"INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY",UMLS ID:C4748708,,,,,"inflammatory bowel disease, immunodeficiency, and encephalopathy",MONDO:0032601,,,,,,OMIM ID:618213 | OMIM ID:190180 +BMGC_DS17326,BMG_DS066414,"Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome",UMLS ID:C4748715,"Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) | Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome | SYT1-related neurodevelopmental disorder | Synaptotagmin 1-related neurodevelopmental disorder | Baker Gordon syndrome",SNOMEDCT ID:1217371005,,,infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,MONDO:0033864,,,,,,OMIM ID:618218 +BMGC_DS17327,BMG_DS066415,,UMLS ID:C4748721,,,,,"polydactyly, postaxial, type A9",MONDO:0032603,,,,,,OMIM ID:618219 +BMGC_DS17328,BMG_DS066416,RETINITIS PIGMENTOSA 84,UMLS ID:C4748725,,,,,retinitis pigmentosa 84,MONDO:0032604,,,retinitis pigmentosa 84,DOID:0112141,,OMIM ID:618220 | OMIM ID:605584 +BMGC_DS17329,BMG_DS066417,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66",UMLS ID:C4748732,,,,,"intellectual disability, autosomal recessive 66",MONDO:0032605,,,autosomal recessive intellectual developmental disorder 66,DOID:0081227,,OMIM ID:616082 | OMIM ID:618221 +BMGC_DS17330,BMG_DS066418,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2",UMLS ID:C4748737,,,,,"mitochondrial complex 1 deficiency, nuclear type 2",MONDO:0032606,,,nuclear type mitochondrial complex I deficiency 2,DOID:0112083,,OMIM ID:602141 | OMIM ID:618222 +BMGC_DS17331,BMG_DS066419,VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION,UMLS ID:C4748741,,,,,vertebral anomalies and variable endocrine and T-cell dysfunction,MONDO:0032607,,,vertebral anomalies and variable endocrine and T-cell dysfunction,DOID:0070345,,OMIM ID:618223 | OMIM ID:600747 +BMGC_DS17332,BMG_DS066420,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3",UMLS ID:C4748752,,,,,"mitochondrial complex 1 deficiency, nuclear type 3",MONDO:0032608,,,nuclear type mitochondrial complex I deficiency 3,DOID:0112093,,OMIM ID:601825 | OMIM ID:618224 +BMGC_DS17333,BMG_DS066421,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4",UMLS ID:C4748753,,,,,"mitochondrial complex 1 deficiency, nuclear type 4",MONDO:0032609,,,nuclear type mitochondrial complex I deficiency 4,DOID:0112082,,OMIM ID:618225 | OMIM ID:161015 +BMGC_DS17334,BMG_DS066422,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5",UMLS ID:C4748754,,,,,"mitochondrial complex 1 deficiency, nuclear type 5",MONDO:0032610,,,nuclear type mitochondrial complex I deficiency 5,DOID:0112068,,OMIM ID:618226 | OMIM ID:157655 +BMGC_DS17335,BMG_DS066423,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6",UMLS ID:C4748759,,,,,"mitochondrial complex 1 deficiency, nuclear type 6",MONDO:0032611,,,nuclear type mitochondrial complex I deficiency 6,DOID:0112066,,OMIM ID:602985 | OMIM ID:618228 +BMGC_DS17336,BMG_DS066424,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7",UMLS ID:C4748760,,,,,"mitochondrial complex 1 deficiency, nuclear type 7",MONDO:0032612,,,nuclear type mitochondrial complex I deficiency 7,DOID:0112092,,OMIM ID:600532 | OMIM ID:618229 +BMGC_DS17337,BMG_DS066425,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8",UMLS ID:C4748766,,,,,"mitochondrial complex 1 deficiency, nuclear type 8",MONDO:0032613,,,nuclear type mitochondrial complex I deficiency 8,DOID:0112081,,OMIM ID:603846 | OMIM ID:618230 +BMGC_DS17338,BMG_DS066426,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9",UMLS ID:C4748767,,,,,"mitochondrial complex 1 deficiency, nuclear type 9",MONDO:0032615,,,nuclear type mitochondrial complex I deficiency 9,DOID:0112073,,OMIM ID:618232 | OMIM ID:603848 +BMGC_DS17339,BMG_DS066427,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10",UMLS ID:C4748768,,,,,"mitochondrial complex 1 deficiency, nuclear type 10",MONDO:0032616,,,nuclear type mitochondrial complex I deficiency 10,DOID:0112075,,OMIM ID:618233 | OMIM ID:609653 +BMGC_DS17340,BMG_DS066428,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11",UMLS ID:C4748769,,,,,"mitochondrial complex 1 deficiency, nuclear type 11",MONDO:0032617,,,nuclear type mitochondrial complex I deficiency 11,DOID:0112089,,OMIM ID:606934 | OMIM ID:618234 +BMGC_DS17341,BMG_DS066429,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13",UMLS ID:C4748770,,,,,"mitochondrial complex 1 deficiency, nuclear type 13",MONDO:0032618,,,nuclear type mitochondrial complex I deficiency 13,DOID:0112076,,OMIM ID:602137 | OMIM ID:618235 +BMGC_DS17342,BMG_DS066430,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14",UMLS ID:C4748777,,,,,"mitochondrial complex 1 deficiency, nuclear type 14",MONDO:0032619,,,nuclear type mitochondrial complex I deficiency 14,DOID:0112094,,OMIM ID:612638 | OMIM ID:618236 +BMGC_DS17343,BMG_DS066431,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15",UMLS ID:C4748778,,,,,"mitochondrial complex 1 deficiency, nuclear type 15",MONDO:0032620,,,nuclear type mitochondrial complex I deficiency 15,DOID:0112077,,OMIM ID:618237 | OMIM ID:611776 +BMGC_DS17344,BMG_DS066433,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16",UMLS ID:C4748785,,,,,"mitochondrial complex 1 deficiency, nuclear type 16",MONDO:0032621,,,nuclear type mitochondrial complex I deficiency 16,DOID:0112096,,OMIM ID:612360 | OMIM ID:618238 +BMGC_DS17345,BMG_DS066434,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17",UMLS ID:C4748786,,,,,"mitochondrial complex 1 deficiency, nuclear type 17",MONDO:0032622,,,nuclear type mitochondrial complex I deficiency 17,DOID:0112078,,OMIM ID:612392 | OMIM ID:618239 +BMGC_DS17346,BMG_DS066435,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18",UMLS ID:C4748790,,,,,"mitochondrial complex 1 deficiency, nuclear type 18",MONDO:0032623,,,nuclear type mitochondrial complex I deficiency 18,DOID:0112070,,OMIM ID:612911 | OMIM ID:618240 +BMGC_DS17347,BMG_DS066436,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19",UMLS ID:C4748791,,,,,"mitochondrial complex 1 deficiency, nuclear type 19",MONDO:0032624,,,nuclear type mitochondrial complex I deficiency 19,DOID:0112085,,OMIM ID:618241 | OMIM ID:613622 +BMGC_DS17348,BMG_DS066437,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21",UMLS ID:C4748792,,,,,"mitochondrial complex 1 deficiency, nuclear type 21",MONDO:0032625,,,nuclear type mitochondrial complex I deficiency 21,DOID:0112088,,OMIM ID:618242 | OMIM ID:613621 +BMGC_DS17349,BMG_DS066438,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22",UMLS ID:C4748796,,,,,"mitochondrial complex 1 deficiency, nuclear type 22",MONDO:0032626,,,nuclear type mitochondrial complex I deficiency 22,DOID:0112069,,OMIM ID:603835 | OMIM ID:618243 +BMGC_DS17350,BMG_DS066439,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23",UMLS ID:C4748799,,,,,"mitochondrial complex 1 deficiency, nuclear type 23",MONDO:0032627,,,nuclear type mitochondrial complex I deficiency 23,DOID:0112087,,OMIM ID:614530 | OMIM ID:618244 +BMGC_DS17351,BMG_DS066440,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24",UMLS ID:C4748803,,,,,"mitochondrial complex 1 deficiency, nuclear type 24",MONDO:0032628,,,nuclear type mitochondrial complex I deficiency 24,DOID:0112079,,OMIM ID:618245 | OMIM ID:601445 +BMGC_DS17352,BMG_DS066441,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25",UMLS ID:C4748806,,,,,"mitochondrial complex 1 deficiency, nuclear type 25",MONDO:0032629,,,nuclear type mitochondrial complex I deficiency 25,DOID:0112067,,OMIM ID:618246 | OMIM ID:603839 +BMGC_DS17353,BMG_DS066442,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26",UMLS ID:C4748809,,,,,"mitochondrial complex 1 deficiency, nuclear type 26",MONDO:0032630,,,nuclear type mitochondrial complex I deficiency 26,DOID:0112086,,OMIM ID:603834 | OMIM ID:618247 +BMGC_DS17354,BMG_DS066443,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27",UMLS ID:C4748826,,,,,"mitochondrial complex 1 deficiency, nuclear type 27",MONDO:0032631,,,nuclear type mitochondrial complex I deficiency 27,DOID:0112090,,OMIM ID:618248 | OMIM ID:611766 +BMGC_DS17355,BMG_DS066444,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28",UMLS ID:C4748827,,,,,"mitochondrial complex 1 deficiency, nuclear type 28",MONDO:0032632,,,nuclear type mitochondrial complex I deficiency 28,DOID:0112095,,OMIM ID:618249 | OMIM ID:609435 +BMGC_DS17356,BMG_DS066445,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29",UMLS ID:C4748830,,,,,"mitochondrial complex 1 deficiency, nuclear type 29",MONDO:0032633,,,nuclear type mitochondrial complex I deficiency 29,DOID:0112084,,OMIM ID:618250 | OMIM ID:615533 +BMGC_DS17357,BMG_DS066446,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31",UMLS ID:C4748838,,,,,"mitochondrial complex 1 deficiency, nuclear type 31",MONDO:0032634,,,nuclear type mitochondrial complex I deficiency 31,DOID:0112071,,OMIM ID:615534 | OMIM ID:618251 +BMGC_DS17358,BMG_DS066447,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32",UMLS ID:C4748839,,,,,"mitochondrial complex 1 deficiency, nuclear type 32",MONDO:0032635,,,nuclear type mitochondrial complex I deficiency 32,DOID:0112080,,OMIM ID:602140 | OMIM ID:618252 +BMGC_DS17359,BMG_DS066448,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33",UMLS ID:C4748840,,,,,"mitochondrial complex 1 deficiency, nuclear type 33",MONDO:0032636,,,nuclear type mitochondrial complex I deficiency 33,DOID:0112097,,OMIM ID:618253 | OMIM ID:602138 +BMGC_DS17360,BMG_DS066449,"CILIARY DYSKINESIA, PRIMARY, 39",UMLS ID:C4748841,,,,,"ciliary dyskinesia, primary, 39",MONDO:0032637,,,primary ciliary dyskinesia 39,DOID:0111854,,OMIM ID:618254 | OMIM ID:618227 +BMGC_DS17361,BMG_DS066450,"DEAFNESS, AUTOSOMAL RECESSIVE 112",UMLS ID:C4748855,,,,,"hearing loss, autosomal recessive 112",MONDO:0032639,,,autosomal recessive nonsyndromic deafness 112,DOID:0111637,,OMIM ID:607012 | OMIM ID:618257 +BMGC_DS17362,BMG_DS066451,MIRROR MOVEMENTS 4,UMLS ID:C4748869,,,,,mirror movements 4,MONDO:0032641,,,,,,OMIM ID:601614 | OMIM ID:618264 +BMGC_DS17363,BMG_DS066453,"ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C4748872,,,,,"arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development",MONDO:0032642,,,,,,OMIM ID:114105 | OMIM ID:618265 +BMGC_DS17364,BMG_DS066454,"PONTOCEREBELLAR HYPOPLASIA, TYPE 12",UMLS ID:C4748873,,,,,"pontocerebellar hypoplasia, type 12",MONDO:0032643,,,pontocerebellar hypoplasia type 12,DOID:0112327,,OMIM ID:618266 | OMIM ID:609855 +BMGC_DS17365,BMG_DS066455,,UMLS ID:C4748876,,,,,"epidermodysplasia verruciformis, susceptibility to, 3",MONDO:0032644,,,,,,OMIM ID:618267 +BMGC_DS17366,BMG_DS066456,TRICHOHEPATONEURODEVELOPMENTAL SYNDROME,UMLS ID:C4748898,,,,,trichohepatoneurodevelopmental syndrome,MONDO:0032645,,,,,,OMIM ID:618260 | OMIM ID:618268 +BMGC_DS17367,BMG_DS066457,,UMLS ID:C4748921,,,,,congenital anomalies of kidney and urinary tract 3,MONDO:0032646,,,,,,OMIM ID:618270 +BMGC_DS17368,BMG_DS066458,"Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome",UMLS ID:C4748924,"Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) | GLOW syndrome | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome | Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome | GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome | Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome",SNOMEDCT ID:782722002,,,global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome,MONDO:0018445,,,,,,OMIM ID:618272 +BMGC_DS17369,BMG_DS066459,MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS,UMLS ID:C4748927,,,,,mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations,MONDO:0032648,,,mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations,DOID:0111403,,OMIM ID:618273 | OMIM ID:612256 +BMGC_DS17370,BMG_DS066460,HYPOTRICHOSIS 14,UMLS ID:C4748930,,,,,hypotrichosis 14,MONDO:0032649,,,hypotrichosis 14,DOID:0080582,,OMIM ID:600909 | OMIM ID:618275 +BMGC_DS17371,BMG_DS066461,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY",UMLS ID:C4748934,,,,,"neurodegeneration, childhood-onset, with cerebellar atrophy",MONDO:0032650,,,,,,OMIM ID:606830 | OMIM ID:618276 +BMGC_DS17372,BMG_DS066462,"FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS",UMLS ID:C4748939,,,,,"fibrosis, neurodegeneration, and cerebral angiomatosis",MONDO:0032651,,,,,,OMIM ID:618278 | OMIM ID:618277 +BMGC_DS17373,BMG_DS066463,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G",UMLS ID:C4748940,,,,,"Charcot-Marie-Tooth disease, demyelinating, type 1G",MONDO:0033135,,,Charcot-Marie-Tooth disease type 1G,DOID:0111560,,OMIM ID:618279 | OMIM ID:170715 +BMGC_DS17374,BMG_DS066464,Cardiac urogenital syndrome,UMLS ID:C4748946,Myelin regulatory factor-related cardiac urogenital syndrome | MYRF-related cardiac urogenital syndrome | Cardiac urogenital syndrome | Cardiac urogenital syndrome (disorder),SNOMEDCT ID:1332387008,,,cardiac-urogenital syndrome,MONDO:0032653,,,,,,OMIM ID:618280 +BMGC_DS17375,BMG_DS066465,"HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE",UMLS ID:C4748969,,,,,"hyper-IgE recurrent infection syndrome 3, autosomal recessive",MONDO:0032654,,,hyper IgE recurrent infection syndrome 3,DOID:0080595,,OMIM ID:618282 +BMGC_DS17376,BMG_DS066466,VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI,UMLS ID:C4748978,,,,,visual impairment and progressive phthisis bulbi,MONDO:0032655,,,,,,OMIM ID:602678 | OMIM ID:618283 +BMGC_DS17377,BMG_DS066467,"MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM",UMLS ID:C4748984,,,,,"microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum",MONDO:0032656,,,,,,OMIM ID:176266 | OMIM ID:618284 +BMGC_DS17378,BMG_DS066468,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69,UMLS ID:C4748988,,,,,"developmental and epileptic encephalopathy, 69",MONDO:0032657,,,developmental and epileptic encephalopathy 69,DOID:0112205,,OMIM ID:618285 | OMIM ID:601013 +BMGC_DS17379,BMG_DS066469,"MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C4748993,,,,,"macrocephaly, acquired, with impaired intellectual development",MONDO:0032658,,,,,,OMIM ID:600728 | OMIM ID:618286 +BMGC_DS17380,BMG_DS066470,"AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3",UMLS ID:C4748997,,,,,"mucocutaneous ulceration, chronic",MONDO:0032659,,,,,,OMIM ID:618287 +BMGC_DS17381,BMG_DS066471,"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT",UMLS ID:C4749003,,,,,"spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant",MONDO:0032660,,,spinal muscular atrophy with lower extremity predominant 2B,DOID:0070350,,OMIM ID:618291 | OMIM ID:609797 +BMGC_DS17382,BMG_DS066472,"NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA",UMLS ID:C4749014,,,,,"neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",MONDO:0032661,,,,,,OMIM ID:618292 | OMIM ID:603123 +BMGC_DS17383,BMG_DS066473,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67",UMLS ID:C4749019,,,,,"intellectual developmental disorder, autosomal recessive 67",MONDO:0032662,,,autosomal recessive intellectual developmental disorder 67,DOID:0081228,,OMIM ID:618295 | OMIM ID:603914 +BMGC_DS17384,BMG_DS066474,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70,UMLS ID:C4749023,,,,,"developmental and epileptic encephalopathy, 70",MONDO:0032663,,,developmental and epileptic encephalopathy 70,DOID:0112206,,OMIM ID:608723 | OMIM ID:618298 +BMGC_DS17385,BMG_DS066475,"CILIARY DYSKINESIA, PRIMARY, 40",UMLS ID:C4749028,,,,,"ciliary dyskinesia, primary, 40",MONDO:0032664,,,primary ciliary dyskinesia 40,DOID:0111853,,OMIM ID:618300 +BMGC_DS17386,BMG_DS066476,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68",UMLS ID:C4749033,,,,,"intellectual developmental disorder, autosomal recessive 68",MONDO:0032665,,,autosomal recessive intellectual developmental disorder 68,DOID:0081229,,OMIM ID:611669 | OMIM ID:618302 +BMGC_DS17387,BMG_DS066477,,UMLS ID:C4749042,,,,,"epidermodysplasia verruciformis, susceptibility to, 4",MONDO:0032666,,,,,,OMIM ID:618307 +BMGC_DS17388,BMG_DS066478,,UMLS ID:C4749043,,,,,"epidermodysplasia verruciformis, susceptibility to, 5",MONDO:0032667,,,,,,OMIM ID:618309 +BMGC_DS17389,BMG_DS066483,"PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC",UMLS ID:C4749059,,,,,,,,,proteasome-associated autoinflammatory syndrome 1,DOID:0050553,,OMIM ID:176843 | OMIM ID:177046 | OMIM ID:256040 +BMGC_DS17390,BMG_DS066508,"MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC",UMLS ID:C4749139,,,,,,,,,,,,OMIM ID:164920 +BMGC_DS17391,BMG_DS066510,"MASTOCYTOSIS, INDOLENT",UMLS ID:C4749142,,,,,,,,,,,,OMIM ID:154800 +BMGC_DS17392,BMG_DS066511,MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER,UMLS ID:C4749143,,,,,,,,,,,,OMIM ID:154800 +BMGC_DS17393,BMG_DS066512,"NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT",UMLS ID:C4749147,,,,,,,,,,,,OMIM ID:605253 | OMIM ID:129010 +BMGC_DS17394,BMG_DS066513,CHROMOSOME 1p36.11 DUPLICATION SYNDROME,UMLS ID:C4749148,,,,,,,,,Coffin-Siris syndrome 2,DOID:0070044,,OMIM ID:614607 +BMGC_DS17395,BMG_DS066514,"PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC",UMLS ID:C4749149,,,,,,,,,proteasome-associated autoinflammatory syndrome 3,DOID:0060916,,OMIM ID:617591 +BMGC_DS17396,BMG_DS066515,CARBOXYLESTERASE 1 DEFICIENCY,UMLS ID:C4749152,,,,,,,,,,,,OMIM ID:618057 +BMGC_DS17397,BMG_DS066516,CHROMOSOME 14q32 DELETION SYNDROME,UMLS ID:C4749153,,,,,,,,,,,,OMIM ID:618147 +BMGC_DS17398,BMG_DS066540,Autosomal recessive chorioretinopathy and microcephaly syndrome,UMLS ID:C4749272,"Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) | Autosomal recessive chorioretinopathy and microcephaly syndrome | Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome",SNOMEDCT ID:770404004,,,,,,,,,, +BMGC_DS17399,BMG_DS066541,Benign familial mesial temporal lobe epilepsy,UMLS ID:C4749273,Benign familial mesial temporal lobe epilepsy | FMTLE - familial mesial temporal lobe epilepsy | Familial mesial temporal lobe epilepsy | Familial mesial temporal lobe epilepsy (disorder),SNOMEDCT ID:770405003,,,,,,,,,, +BMGC_DS17400,BMG_DS066542,Chuvash erythrocytosis,UMLS ID:C4749274,Chuvash polycythemia | Chuvash polycythaemia | Chuvash erythrocytosis | Von Hippel Lindau dependent polycythaemia | Von Hippel Lindau dependent polycythemia | Chuvash erythrocytosis (disorder),SNOMEDCT ID:770407006,,,,,,,,,, +BMGC_DS17401,BMG_DS066546,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,UMLS ID:C4749281,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation",SNOMEDCT ID:770431001,,,early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,MONDO:0017325,,,,,,OMIM ID:613971 +BMGC_DS17402,BMG_DS066549,,UMLS ID:C4749284,,,,,familial bicuspid aortic valve,MONDO:0007194,,,,,, +BMGC_DS17403,BMG_DS066556,,UMLS ID:C4749301,,,,,lissencephaly due to LIS1 mutation,MONDO:0011830,,,,,,OMIM ID:607432 +BMGC_DS17404,BMG_DS066558,Microcephalic primordial dwarfism Dauber type,UMLS ID:C4749303,Microcephalic primordial dwarfism Dauber type | Microcephalic primordial dwarfism Dauber type (disorder),SNOMEDCT ID:770565003,,,,,,,,,, +BMGC_DS17405,BMG_DS066559,Monosomy 13q14 syndrome,UMLS ID:C4749304,Monosomy 13q14 syndrome | Monosomy 13q14 syndrome (disorder) | Deletion 13q14 | Monosomy 13q14,SNOMEDCT ID:770566002,,,,,,,,,, +BMGC_DS17406,BMG_DS066568,"Macular Dystrophy, Retinal, 2",UMLS ID:C4749334,,,,,retinal macular dystrophy type 2,MONDO:0011957,,MeSH ID:C562746,retinal macular dystrophy 2,DOID:0070517,,OMIM ID:608051 +BMGC_DS17407,BMG_DS066576,Genetic transient congenital hypothyroidism,UMLS ID:C4749351,Genetic transient congenital hypothyroidism (disorder) | Genetic transient congenital hypothyroidism,SNOMEDCT ID:770631009,,,,,,,,,, +BMGC_DS17408,BMG_DS066603,Vasculitis due to adenosine deaminase 2 deficiency,UMLS ID:C4749403,Vasculitis due to ADA2 deficiency | Vasculitis due to adenosine deaminase 2 deficiency | Vasculitis due to adenosine deaminase 2 deficiency (disorder) | Vasculitis due to ADA2 (adenosine deaminase 2) deficiency,SNOMEDCT ID:770687001,,,,,,,,,, +BMGC_DS17409,BMG_DS066610,"Microcephaly, thin corpus callosum, intellectual disability syndrome",UMLS ID:C4749429,"Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Microcephaly, thin corpus callosum, intellectual disability syndrome",SNOMEDCT ID:770721009,,,,,,,,,, +BMGC_DS17410,BMG_DS066611,Proximal myopathy with extrapyramidal signs,UMLS ID:C4749430,Proximal myopathy with extrapyramidal signs | Proximal myopathy with extrapyramidal signs (disorder),SNOMEDCT ID:770722002,,,,,,,,,, +BMGC_DS17411,BMG_DS066612,Autosomal recessive spastic paraplegia type 70,UMLS ID:C4749431,Autosomal recessive spastic paraplegia type 70 (disorder) | Autosomal recessive spastic paraplegia type 70,SNOMEDCT ID:770724001,,,autosomal recessive spastic paraplegia type 70,MONDO:0018422,,,,,, +BMGC_DS17412,BMG_DS066613,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,UMLS ID:C4749432,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (disorder),SNOMEDCT ID:770725000,,,,,,,,,, +BMGC_DS17413,BMG_DS066614,Female infertility due to zona pellucida defect,UMLS ID:C4749433,Female infertility due to zona pellucida defect (disorder) | Female infertility due to zona pellucida defect,SNOMEDCT ID:770726004,,,,,,,,,, +BMGC_DS17414,BMG_DS066615,Spinal muscular atrophy with respiratory distress type 2,UMLS ID:C4749434,SMARD2 - spinal muscular atrophy with respiratory distress type 2 | Spinal muscular atrophy with respiratory distress type 2 | Diaphragmatic spinal muscular atrophy type 2 | Severe infantile axonal neuropathy with respiratory failure type 2 | Spinal muscular atrophy with respiratory distress type 2 (disorder) | X-linked spinal muscular atrophy with respiratory distress,SNOMEDCT ID:770727008,,,spinal muscular atrophy with respiratory distress type 2,MONDO:0018450,,,,,, +BMGC_DS17415,BMG_DS066618,"Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome",UMLS ID:C4749456,"Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) | Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome",SNOMEDCT ID:770751003,,,,,,,,,, +BMGC_DS17416,BMG_DS066619,2p21 microdeletion syndrome without cystinuria,UMLS ID:C4749458,2p21 microdeletion syndrome without cystinuria (disorder) | 2p21 microdeletion syndrome without cystinuria,SNOMEDCT ID:770754006,,,2p21 microdeletion syndrome without cystinuria,MONDO:0018245,,,,,, +BMGC_DS17417,BMG_DS066620,"Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome",UMLS ID:C4749459,"MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 | Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) | Congenital disorder of glycosylation due to PIGT deficiency",SNOMEDCT ID:770755007,,,,,,,,,, +BMGC_DS17418,BMG_DS066623,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,UMLS ID:C4749463,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder),SNOMEDCT ID:770759001,,,Charcot-Marie-Tooth disease dominant intermediate F,MONDO:0014074,,,,,,OMIM ID:615185 +BMGC_DS17419,BMG_DS066641,T-cell immunodeficiency with epidermodysplasia verruciformis,UMLS ID:C4749500,T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency | T-cell immunodeficiency with epidermodysplasia verruciformis | T-cell immunodeficiency due to RHOH deficiency | T-cell immunodeficiency due to ras homolog family member H deficiency | T-cell immunodeficiency due to ras homolog family member H deficiency (disorder),SNOMEDCT ID:770785002,,,T-cell immunodeficiency with epidermodysplasia verruciformis,MONDO:0017925,,,,,, +BMGC_DS17420,BMG_DS066643,Benign Samaritan congenital myopathy,UMLS ID:C4749502,Benign Samaritan congenital myopathy (disorder) | Benign Samaritan congenital myopathy,SNOMEDCT ID:770787005,,,benign Samaritan congenital myopathy,MONDO:0017936,,,,,, +BMGC_DS17421,BMG_DS066644,"Tall stature, scoliosis, macrodactyly of great toe syndrome",UMLS ID:C4749503,"Tall stature, scoliosis, macrodactyly of great toe syndrome | Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) | Tall stature, scoliosis, macrodactyly of hallux syndrome",SNOMEDCT ID:770788000,,,,,,,,,, +BMGC_DS17422,BMG_DS066645,Developmental delay with autism spectrum disorder and gait instability,UMLS ID:C4749505,Developmental delay with autism spectrum disorder and gait instability (disorder) | Developmental delay with autism spectrum disorder and gait instability,SNOMEDCT ID:770790004,,,,,,,,,, +BMGC_DS17423,BMG_DS066646,Adult-onset distal myopathy due to valosin containing protein mutation,UMLS ID:C4749506,Adult-onset distal myopathy due to VCP (valosin containing protein) mutation | Adult-onset distal myopathy due to valosin containing protein mutation (disorder) | Adult-onset distal myopathy due to VCP mutation | Adult-onset distal myopathy due to valosin containing protein mutation,SNOMEDCT ID:770792007,,,adult-onset distal myopathy due to VCP mutation,MONDO:0018006,,,,,, +BMGC_DS17424,BMG_DS066647,5p13 microduplication syndrome,UMLS ID:C4749507,5p13 microduplication syndrome (disorder) | Trisomy 5p13 | 5p13 microduplication syndrome,SNOMEDCT ID:770793002,,,,,,,,,, +BMGC_DS17425,BMG_DS066658,MITF-related melanoma and renal cell carcinoma predisposition syndrome,UMLS ID:C4749577,Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder) | MITF-related melanoma and renal cell carcinoma predisposition syndrome | MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome | Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome,SNOMEDCT ID:770896003,,,,,,,,,, +BMGC_DS17426,BMG_DS066660,"Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome",UMLS ID:C4749580,"Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) | Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome | Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome",SNOMEDCT ID:770901001,,,recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,MONDO:0017232,,,,,, +BMGC_DS17427,BMG_DS066661,Distal monosomy 12p,UMLS ID:C4749581,Distal monosomy 12p | Distal deletion 12p | Distal monosomy 12p (disorder) | 12p13.33 microdeletion syndrome,SNOMEDCT ID:770902008,,,distal monosomy 12p,MONDO:0017229,,,,,, +BMGC_DS17428,BMG_DS066675,Autosomal dominant severe congenital neutropenia,UMLS ID:C4749612,Autosomal dominant severe congenital neutropaenia | Autosomal dominant severe congenital neutropenia (disorder) | Autosomal dominant severe congenital neutropenia,SNOMEDCT ID:770947009,,,autosomal dominant severe congenital neutropenia,MONDO:0008742,,,,,, +BMGC_DS17429,BMG_DS066677,"Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome",UMLS ID:C4749647,"Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) | Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome",SNOMEDCT ID:771074000,,,microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,MONDO:0018494,,,,,, +BMGC_DS17430,BMG_DS066681,Immunodeficiency due to MASP-2 deficiency,UMLS ID:C4749651,Immunodeficiency due to MASP-2 (mannan binding lectin serine peptidase 2) deficiency | Immunodeficiency due to MASP-2 deficiency | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency (disorder) | Immunodeficiency due to mannan binding lectin serine peptidase 2 deficiency,SNOMEDCT ID:771078002,,,,,,,,,, +BMGC_DS17431,BMG_DS066682,,UMLS ID:C4749652,,,,,hereditary site-specific ovarian cancer syndrome,MONDO:0016249,,,,,, +BMGC_DS17432,BMG_DS066683,Distal hereditary motor neuropathy type 7,UMLS ID:C4749653,Distal hereditary motor neuropathy type 7 | Distal spinal muscular atrophy with vocal cord paralysis | Distal hereditary motor neuropathy type 7 (disorder),SNOMEDCT ID:771081007,,,distal hereditary motor neuropathy type 7,MONDO:0015355,,,,,, +BMGC_DS17433,BMG_DS066706,"Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome",UMLS ID:C4749823,"POIKTMP syndrome | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) | POIKTMP (poikiloderma, tendon contractures, myopathy, pulmonary fibrosis) syndrome | Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome",SNOMEDCT ID:771306007,,,,,,,,,, +BMGC_DS17434,BMG_DS066707,Charcot-Marie-Tooth disease type 2B5,UMLS ID:C4749824,Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency | Severe early-onset axonal neuropathy due to NEFL deficiency | Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency | Autosomal recessive Charcot-Marie-Tooth disease type 2B5 | Charcot-Marie-Tooth disease type 2B5 | Charcot-Marie-Tooth disease type 2B5 (disorder),SNOMEDCT ID:771307003,,,Charcot-Marie-Tooth disease type 2B5,MONDO:0016454,,,,,, +BMGC_DS17435,BMG_DS066708,"Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome",UMLS ID:C4749825,"Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) | Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome",SNOMEDCT ID:771308008,,,,,,,,,, +BMGC_DS17436,BMG_DS066710,"Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome",UMLS ID:C4749850,"IL10-related early-onset inflammatory bowel disease | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome (disorder) | Interleukin 10 related early-onset inflammatory bowel disease | IL10 (interleukin 10) related early-onset inflammatory bowel disease",SNOMEDCT ID:771333006,,,immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,MONDO:0016542,,,,,, +BMGC_DS17437,BMG_DS066711,Ectodermal dysplasia syndactyly syndrome,UMLS ID:C4749852,Ectodermal dysplasia syndactyly syndrome (disorder) | Ectodermal dysplasia syndactyly syndrome,SNOMEDCT ID:771335004,,,ectodermal dysplasia-syndactyly syndrome,MONDO:0013311,,,,,, +BMGC_DS17438,BMG_DS066713,15q11.2 microdeletion syndrome,UMLS ID:C4749854,Monosomy 15q11.2 | 15q11.2 microdeletion syndrome | 15q11.2 microdeletion syndrome (disorder),SNOMEDCT ID:771340007,,,,,,,,,, +BMGC_DS17439,BMG_DS066714,14q11.2 microduplication syndrome,UMLS ID:C4749855,14q11.2 microduplication syndrome (disorder) | 14q11.2 microduplication syndrome | Trisomy 14q11.2,SNOMEDCT ID:771341006,,,14q11.2 microduplication syndrome,MONDO:0016835,,,,,, +BMGC_DS17440,BMG_DS066715,"Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome",UMLS ID:C4749856,"Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) | Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome | MRCS syndrome | MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome",SNOMEDCT ID:771342004,,,MRCS syndrome,MONDO:0016979,,,,,, +BMGC_DS17441,BMG_DS066717,Methylmalonic aciduria due to transcobalamin receptor defect,UMLS ID:C4749905,Methylmalonic aciduria due to transcobalamin receptor defect (disorder) | Methylmalonic acidaemia TCb1R type | Methylmalonic aciduria due to transcobalamin receptor defect | Methylmalonic acidemia TCb1R type,SNOMEDCT ID:771444002,,,methylmalonic acidemia due to transcobalamin receptor defect,MONDO:0013341,,,,,,OMIM ID:613646 +BMGC_DS17442,BMG_DS066720,Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,UMLS ID:C4749908,Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) | Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,SNOMEDCT ID:771448004,,,,,,,,,, +BMGC_DS17443,BMG_DS066721,"Optic nerve edema, splenomegaly syndrome",UMLS ID:C4749914,"Optic nerve edema, splenomegaly syndrome (disorder) | Optic nerve oedema, splenomegaly syndrome | Optic nerve edema, splenomegaly syndrome",SNOMEDCT ID:771471002,,,"retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome",MONDO:0013999,,,,,,OMIM ID:614979 +BMGC_DS17444,BMG_DS066722,Developmental and speech delay due to SOX5 deficiency,UMLS ID:C4749915,Developmental and speech delay due to SRY-box 5 deficiency | Developmental and speech delay due to SOX5 (SRY-box 5) deficiency | Developmental and speech delay due to SRY-box 5 deficiency (disorder) | Developmental and speech delay due to SOX5 deficiency,SNOMEDCT ID:771472009,,,developmental and speech delay due to SOX5 deficiency,MONDO:0017782,,,,,, +BMGC_DS17445,BMG_DS066724,,UMLS ID:C4749917,,,,,gastric adenocarcinoma and proximal polyposis of the stomach,MONDO:0017790,,,,,,OMIM ID:619182 +BMGC_DS17446,BMG_DS066725,Young adult-onset distal hereditary motor neuropathy,UMLS ID:C4749918,Young adult-onset distal hereditary motor neuropathy | Autosomal recessive distal spinal muscular atrophy type 5 | Young adult-onset distal hereditary motor neuropathy (disorder),SNOMEDCT ID:771475006,,,"neuronopathy, distal hereditary motor, autosomal recessive 5",MONDO:0013947,,,,,,OMIM ID:614881 +BMGC_DS17447,BMG_DS066728,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,UMLS ID:C4749921,COXPD10 - combined oxidative phosphorylation defect type 10 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) | Combined oxidative phosphorylation defect type 10 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency,SNOMEDCT ID:771478008,,,mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,MONDO:0013865,,,,,,OMIM ID:614702 +BMGC_DS17448,BMG_DS066729,Combined immunodeficiency due to STK4 deficiency,UMLS ID:C4749922,Combined immunodeficiency due to STK4 deficiency | Combined immunodeficiency due to serine/threonine kinase 4 deficiency (disorder) | Combined immunodeficiency due to serine/threonine kinase 4 deficiency | Combined immunodeficiency due to STK4 (serine/threonine kinase 4) deficiency,SNOMEDCT ID:771479000,,,,,,,,,, +BMGC_DS17449,BMG_DS066732,X-linked central congenital hypothyroidism with late-onset testicular enlargement,UMLS ID:C4749943,X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) | IGSF1 (immunoglobulin superfamily member 1) deficiency syndrome | X-linked central congenital hypothyroidism with late-onset macroorchidism | X-linked central congenital hypothyroidism with late-onset testicular enlargement,SNOMEDCT ID:771510006,,,,,,,,,, +BMGC_DS17450,BMG_DS066733,Thrombocythemia with distal limb defect,UMLS ID:C4749944,Familial thrombocytosis with transverse limb defect | Thrombocythemia with distal limb defect (disorder) | Thrombocythemia with distal limb defect | Hereditary thrombocytosis with transverse limb defect | Thrombocythaemia with distal limb defect,SNOMEDCT ID:771511005,,,hereditary thrombocytosis with transverse limb defect,MONDO:0018000,,,,,, +BMGC_DS17451,BMG_DS066734,Autism spectrum disorder due to AUTS2 deficiency,UMLS ID:C4749945,Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency | Autism spectrum disorder due to AUTS2 deficiency | Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder) | AUTS2 syndrome,SNOMEDCT ID:771512003,,,,,,,,,, +BMGC_DS17452,BMG_DS066735,Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency,UMLS ID:C4749946,Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) | Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | Combined oxidative phosphorylation defect type 16,SNOMEDCT ID:771513008,,,,,,,,,, +BMGC_DS17453,BMG_DS066736,"Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome",UMLS ID:C4749947,"Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) | Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome",SNOMEDCT ID:771514002,,,,,,,,,, +BMGC_DS17454,BMG_DS066737,"Facial dysmorphism, immunodeficiency, livedo, short stature syndrome",UMLS ID:C4749948,"FILS syndrome | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome | Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder) | FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome",SNOMEDCT ID:771515001,,,,,,,,,, +BMGC_DS17455,BMG_DS066738,Severe combined immunodeficiency due to CARD11 deficiency,UMLS ID:C4749949,Severe combined immunodeficiency due to CARD11 deficiency | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency | Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency | Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency (disorder),SNOMEDCT ID:771517009,,,,,,,,,, +BMGC_DS17456,BMG_DS066874,Cyclin-dependent kinase-like 5 deficiency,UMLS ID:C4750718,Cyclin-dependent kinase-like 5 deficiency (disorder) | CDKL5 (cyclin-dependent kinase-like 5) deficiency | CDKL5 deficiency disorder | Cyclin-dependent kinase-like 5 deficiency | CDKL5-related epileptic encephalopathy,SNOMEDCT ID:773230003,,,"developmental and epileptic encephalopathy, 2",MONDO:0010396,,,,,,OMIM ID:300672 +BMGC_DS17457,BMG_DS066904,"Microcephaly, polymicrogyria, corpus callosum agenesis syndrome",UMLS ID:C4750772,"Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) | Microcephaly, polymicrogyria, corpus callosum agenesis syndrome",SNOMEDCT ID:773305003,,,microcephaly-polymicrogyria-corpus callosum agenesis syndrome,MONDO:0015745,,,,,, +BMGC_DS17458,BMG_DS066905,Congenital lethal myopathy Compton North type,UMLS ID:C4750773,Congenital lethal myopathy Compton North type | Congenital lethal myopathy Compton North type (disorder),SNOMEDCT ID:773306002,,,,,,,,,, +BMGC_DS17459,BMG_DS066906,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,UMLS ID:C4750774,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder) | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type A,SNOMEDCT ID:773308001,,,,,,,,,, +BMGC_DS17460,BMG_DS066909,7q31 microdeletion syndrome,UMLS ID:C4750783,Monosomy 7q31 | 7q31 microdeletion syndrome (disorder) | 7q31 microdeletion syndrome,SNOMEDCT ID:773326003,,,7q31 microdeletion syndrome,MONDO:0016656,,,,,, +BMGC_DS17461,BMG_DS066911,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,UMLS ID:C4750786,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) | Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type B,SNOMEDCT ID:773330000,,,,,,,,,, +BMGC_DS17462,BMG_DS066912,Autosomal systemic lupus erythematosus,UMLS ID:C4750787,Autosomal systemic lupus erythematosus (disorder) | Autosomal systemic lupus erythematosus | Autosomal SLE (systemic lupus erythematosus) | Familial systemic lupus erythematosus,SNOMEDCT ID:773333003,,,,,,,,,, +BMGC_DS17463,BMG_DS066913,Oligodontia and cancer predisposition syndrome,UMLS ID:C4750788,Oligodontia and cancer predisposition syndrome | Oligodontia and cancer predisposition syndrome (disorder),SNOMEDCT ID:773345007,,,,,,,,,, +BMGC_DS17464,BMG_DS066917,"Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome",UMLS ID:C4750835,"Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder) | Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome",SNOMEDCT ID:773398005,,,,,,,,,, +BMGC_DS17465,BMG_DS066919,Bainbridge-Ropers syndrome,UMLS ID:C4750837,,,,,severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome,MONDO:0014205,,MeSH ID:C000726367,,,,OMIM ID:615485 +BMGC_DS17466,BMG_DS066920,Intellectual disability with strabismus syndrome,UMLS ID:C4750838,Intellectual disability with strabismus syndrome (disorder) | Intellectual disability with strabismus syndrome,SNOMEDCT ID:773405004,,,intellectual disability-strabismus syndrome,MONDO:0014119,,,,,,OMIM ID:615286 +BMGC_DS17467,BMG_DS066922,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,UMLS ID:C4750846,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type C,SNOMEDCT ID:773414009,,,,,,,,,, +BMGC_DS17468,BMG_DS066924,XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation,UMLS ID:C4750849,Xylosyltransferase 1 congenital disorder of glycosylation | XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation | Xylosyltransferase 1 congenital disorder of glycosylation (disorder) | XYLT1-CDG,SNOMEDCT ID:773418007,,,XYLT1-congenital disorder of glycosylation,MONDO:0018273,,,,,, +BMGC_DS17469,BMG_DS066926,"Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome",UMLS ID:C4750851,"Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome",SNOMEDCT ID:773419004,,,,,,,,,, +BMGC_DS17470,BMG_DS066928,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,UMLS ID:C4750853,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,SNOMEDCT ID:773421009,,,infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,MONDO:0018314,,,,,, +BMGC_DS17471,BMG_DS066929,East Texas bleeding disorder,UMLS ID:C4750854,East Texas bleeding disorder (disorder) | East Texas bleeding disorder,SNOMEDCT ID:773422002,,,,,,,,,, +BMGC_DS17472,BMG_DS066930,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,UMLS ID:C4750855,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,SNOMEDCT ID:773423007,,,,,,,,,, +BMGC_DS17473,BMG_DS066932,Autosomal recessive spastic paraplegia type 59,UMLS ID:C4750857,Autosomal recessive spastic paraplegia type 59 | Autosomal recessive spastic paraplegia type 59 (disorder),SNOMEDCT ID:773425000,,,autosomal recessive spastic paraplegia type 59,MONDO:0018416,,,,,, +BMGC_DS17474,BMG_DS066933,LMNA-related cardiocutaneous progeria syndrome,UMLS ID:C4750858,Lamin A/C related cardiocutaneous progeria syndrome | LMNA-related cardiocutaneous progeria syndrome | Lamin A/C related cardiocutaneous progeria syndrome (disorder),SNOMEDCT ID:773426004,,,LMNA-related cardiocutaneous progeria syndrome,MONDO:0018203,,,,,, +BMGC_DS17475,BMG_DS066943,Combined immunodeficiency due to MALT1 deficiency,UMLS ID:C4750906,Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) | Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency | Combined immunodeficiency due to MALT1 deficiency,SNOMEDCT ID:773488000,,,,,,,,,, +BMGC_DS17476,BMG_DS066944,Hereditary cryohydrocytosis with normal stomatin,UMLS ID:C4750907,Hereditary cryohydrocytosis with normal stomatin (disorder) | Hereditary cryohydrocytosis with normal stomatin,SNOMEDCT ID:773489008,,,,,,,,,, +BMGC_DS17477,BMG_DS066950,"Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome",UMLS ID:C4750913,"Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder)",SNOMEDCT ID:773497001,,,partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,MONDO:0018430,,,,,, +BMGC_DS17478,BMG_DS066951,"Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency",UMLS ID:C4750914,"Spinocerebellar ataxia autosomal recessive type 23 | SCAR23 - spinocerebellar ataxia autosomal recessive type 23 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency",SNOMEDCT ID:773498006,,,"spinocerebellar ataxia, autosomal recessive 23",MONDO:0014846,,,,,,OMIM ID:616949 +BMGC_DS17479,BMG_DS066954,Epidermolysis bullosa simplex due to BP230 deficiency,UMLS ID:C4750917,Epidermolysis bullosa simplex due to BP230 deficiency (disorder) | Epidermolysis bullosa simplex due to BP230 deficiency | DST (dystonin) related epidermolysis bullosa simplex,SNOMEDCT ID:773501006,,,,,,,,,, +BMGC_DS17480,BMG_DS066955,Epidermolysis bullosa simplex due to exophilin 5 deficiency,UMLS ID:C4750918,Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) | Epidermolysis bullosa simplex due to exophilin 5 deficiency,SNOMEDCT ID:773503009,,,,,,,,,, +BMGC_DS17481,BMG_DS066965,"Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome",UMLS ID:C4750952,"Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) | Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome | Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome",SNOMEDCT ID:773548008,,,,,,,,,, +BMGC_DS17482,BMG_DS066966,Maternal riboflavin deficiency,UMLS ID:C4750953,Maternal riboflavin deficiency | Maternal riboflavin deficiency (disorder),SNOMEDCT ID:773549000,,,maternal riboflavin deficiency,MONDO:0014013,,,,,, +BMGC_DS17483,BMG_DS066967,"Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome",UMLS ID:C4750954,"Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome",SNOMEDCT ID:773551001,,,,,,,,,, +BMGC_DS17484,BMG_DS066968,"Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome",UMLS ID:C4750955,"Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome | Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)",SNOMEDCT ID:773552008,,,,,,,,,, +BMGC_DS17485,BMG_DS066969,Severe neurodegenerative syndrome with lipodystrophy,UMLS ID:C4750956,"Severe neurodegenerative syndrome due to BSCL2 deficiency | Severe neurodegenerative syndrome due to BSCL2, seipin lipid droplet biogenesis associated deficiency | Severe neurodegenerative syndrome with lipodystrophy | Severe neurodegenerative syndrome with lipodystrophy (disorder)",SNOMEDCT ID:773555005,,,,,,,,,, +BMGC_DS17486,BMG_DS066974,Progressive retinal dystrophy due to retinol transport defect,UMLS ID:C4751000,"Retinol dystrophy, iris coloboma, comedogenic acne syndrome | Progressive retinal dystrophy due to retinol transport defect (disorder) | Progressive retinal dystrophy due to retinol transport defect",SNOMEDCT ID:773576000,,,,,,,,,, +BMGC_DS17487,BMG_DS066975,"Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome",UMLS ID:C4751001,"Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome | Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder)",SNOMEDCT ID:773577009,,,,,,,,,, +BMGC_DS17488,BMG_DS066977,Congenital chronic diarrhea with protein-losing enteropathy,UMLS ID:C4751003,Congenital chronic diarrhea with protein-losing enteropathy (disorder) | Congenital chronic diarrhea with exudative enteropathy | Congenital chronic diarrhoea with protein-losing enteropathy | Congenital chronic diarrhea with protein-losing enteropathy | Congenital chronic diarrhoea with exudative enteropathy,SNOMEDCT ID:773579007,,,,,,,,,, +BMGC_DS17489,BMG_DS066980,"X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome",UMLS ID:C4751008,"X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome",SNOMEDCT ID:773587008,,,,,,,,,, +BMGC_DS17490,BMG_DS067000,"Porencephaly, microcephaly, bilateral congenital cataract syndrome",UMLS ID:C4751076,"Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) | Porencephaly, microcephaly, bilateral congenital cataract syndrome",SNOMEDCT ID:773627004,,,,,,,,,, +BMGC_DS17491,BMG_DS067001,"Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome",UMLS ID:C4751077,"Frontonasal dysplasia type 3 | ALX1-related frontonasal dysplasia | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) | ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia | Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome",SNOMEDCT ID:773628009,,,,,,,,,, +BMGC_DS17492,BMG_DS067013,"Multiple congenital anomalies, hypotonia, seizures syndrome type 2",UMLS ID:C4751110,"Multiple congenital anomalies, hypotonia, seizures syndrome type 2 | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2 | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)",SNOMEDCT ID:773643006,,,,,,,,,, +BMGC_DS17493,BMG_DS067014,"Progeroid and marfanoid aspect, lipodystrophy syndrome",UMLS ID:C4751111,"Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) | Progeroid and marfanoid aspect, lipodystrophy syndrome",SNOMEDCT ID:773644000,,,,,,,,,, +BMGC_DS17494,BMG_DS067016,"Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome",UMLS ID:C4751113,"Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome | Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) | Nephrotic syndrome, hearing loss, pretibial epidermolysis bullosa syndrome",SNOMEDCT ID:773647007,,,,,,,,,, +BMGC_DS17495,BMG_DS067017,"Congenital cataract, hearing loss, severe developmental delay syndrome",UMLS ID:C4751114,"Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) | Congenital cataract, hearing loss, severe developmental delay syndrome | Congenital cataract, deafness, severe developmental delay syndrome | Lethal neurodegenerative disorder due to copper transport defect",SNOMEDCT ID:773648002,,,Huppke-Brendel syndrome,MONDO:0013772,,,,,,OMIM ID:614482 +BMGC_DS17496,BMG_DS067018,Transient infantile hypertriglyceridemia and hepatosteatosis,UMLS ID:C4751115,Transient infantile hypertriglyceridemia and hepatosteatosis | Transient infantile hypertriglyceridemia and fatty liver | Transient infantile hypertriglyceridemia and hepatosteatosis (disorder) | Transient infantile hypertriglyceridaemia and hepatosteatosis | Transient infantile hypertriglyceridaemia and fatty liver,SNOMEDCT ID:773649005,,,,,,,,,, +BMGC_DS17497,BMG_DS067019,Neonatal inflammatory skin and bowel disease,UMLS ID:C4751120,Neonatal inflammatory skin and bowel disease (disorder) | Neonatal inflammatory skin and bowel disease,SNOMEDCT ID:773662009,,,neonatal inflammatory skin and bowel disease,MONDO:0017411,,,,,, +BMGC_DS17498,BMG_DS067021,"Deficiency in anterior pituitary function, variable immunodeficiency syndrome",UMLS ID:C4751122,"Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) | Deficiency in anterior pituitary function, variable immunodeficiency syndrome | DAVID (deficiency in anterior pituitary function, variable immunodeficiency) syndrome",SNOMEDCT ID:773664005,,,deficiency in anterior pituitary function - variable immunodeficiency syndrome,MONDO:0017407,,,,,, +BMGC_DS17499,BMG_DS067023,Hypoinsulinemic hypoglycemia and body hemihypertrophy,UMLS ID:C4751124,Hypoinsulinemic hypoglycemia and body hemihypertrophy | Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) | Hypoinsulinemic hypoglycaemia and body hemihypertrophy,SNOMEDCT ID:773666007,,,,,,,,,, +BMGC_DS17500,BMG_DS067024,"Hypertelorism, preauricular sinus, punctual pits, deafness syndrome",UMLS ID:C4751125,"Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) | Hypertelorism, preauricular sinus, punctual pits, deafness syndrome | HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome | Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome",SNOMEDCT ID:773667003,,,hypertelorism-preauricular sinus-punctual pits-deafness syndrome,MONDO:0013614,,,,,,OMIM ID:614187 +BMGC_DS17501,BMG_DS067026,"Lethal occipital encephalocele, skeletal dysplasia syndrome",UMLS ID:C4751129,"Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) | Lethal occipital encephalocele, skeletal dysplasia syndrome",SNOMEDCT ID:773672007,,,,,,,,,, +BMGC_DS17502,BMG_DS067027,"Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome",UMLS ID:C4751130,"Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) | Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome | Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome",SNOMEDCT ID:773673002,,,,,,,,,, +BMGC_DS17503,BMG_DS067028,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,UMLS ID:C4751138,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | Childhood encephalopathy due to thiamin pyrophosphokinase deficiency,SNOMEDCT ID:773668008,,,,,,,,,, +BMGC_DS17504,BMG_DS067052,,UMLS ID:C4751168,,,,,Pitt-Hopkins-like syndrome,MONDO:0016377,,,,,, +BMGC_DS17505,BMG_DS067060,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,UMLS ID:C4751204,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder) | Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency,SNOMEDCT ID:773726000,,,hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,MONDO:0016203,,,,,, +BMGC_DS17506,BMG_DS067061,Osteopetrosis hypogammaglobulinemia syndrome,UMLS ID:C4751205,Autosomal recessive osteopetrosis type 7 | Osteopetrosis hypogammaglobulinemia syndrome (disorder) | Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia | Osteopetrosis hypogammaglobulinemia syndrome | Osteopetrosis hypogammaglobulinaemia syndrome,SNOMEDCT ID:773730002,,,,,,,,,, +BMGC_DS17507,BMG_DS067072,Rare isolated myopia,UMLS ID:C4751232,Rare isolated myopia | Rare isolated myopia (disorder),SNOMEDCT ID:773771008,,,,,,,,,, +BMGC_DS17508,BMG_DS067104,,UMLS ID:C4751434,,,,,isolated asymptomatic elevation of creatine phosphokinase,MONDO:0016103,,,,,, +BMGC_DS17509,BMG_DS067111,PRKAR1B-related neurodegenerative dementia with intermediate filaments,UMLS ID:C4751505,Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments | PRKAR1B-related neurodegenerative dementia with intermediate filaments | Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments (disorder),SNOMEDCT ID:774069007,,,PRKAR1B-related neurodegenerative dementia with intermediate filaments,MONDO:0018475,,,,,, +BMGC_DS17510,BMG_DS067112,"FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome",UMLS ID:C4751506,"FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome",SNOMEDCT ID:774070008,,,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,MONDO:0018443,,,,,, +BMGC_DS17511,BMG_DS067113,Pancytopenia with developmental delay syndrome,UMLS ID:C4751507,Trilineage bone marrow failure with developmental delay syndrome | Pancytopenia with developmental delay syndrome | Pancytopenia with developmental delay syndrome (disorder),SNOMEDCT ID:774071007,,,,,,,,,, +BMGC_DS17512,BMG_DS067127,"Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome",UMLS ID:C4751569,"Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome | Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder)",SNOMEDCT ID:774150004,,,,,,,,,, +BMGC_DS17513,BMG_DS067128,Ferro-cerebro-cutaneous syndrome,UMLS ID:C4751570,Cerebro-cutaneous syndrome with iron overload | Ferro-cerebro-cutaneous syndrome | Ferro-cerebro-cutaneous syndrome (disorder),SNOMEDCT ID:774151000,,,ferro-cerebro-cutaneous syndrome,MONDO:0018346,,,,,,OMIM ID:301072 +BMGC_DS17514,BMG_DS067129,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,UMLS ID:C4751571,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | Retinal dystrophy with inner nuclear layer and ganglion cell anomalies | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder),SNOMEDCT ID:774152007,,,,,,,,,, +BMGC_DS17515,BMG_DS067130,Periodic paralysis with transient compartment-like syndrome,UMLS ID:C4751572,Periodic paralysis with transient compartment-like syndrome (disorder) | Periodic paralysis with transient compartment-like syndrome,SNOMEDCT ID:774153002,,,,,,,,,, +BMGC_DS17516,BMG_DS067131,Periodic paralysis with later-onset distal motor neuropathy,UMLS ID:C4751573,Periodic paralysis with later-onset distal motor neuropathy (disorder) | Periodic paralysis with later-onset distal motor neuropathy,SNOMEDCT ID:774154008,,,periodic paralysis with later-onset distal motor neuropathy,MONDO:0018343,,,,,, +BMGC_DS17517,BMG_DS067132,"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome",UMLS ID:C4751574,"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome | Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) | SAMS syndrome | SAMS (short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies) syndrome",SNOMEDCT ID:774155009,,,,,,,,,, +BMGC_DS17518,BMG_DS067133,"Intellectual disability, severe speech delay, mild dysmorphism syndrome",UMLS ID:C4751594,"Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) | Intellectual disability, severe speech delay, mild dysmorphism syndrome",SNOMEDCT ID:774203000,,,,,,,,,, +BMGC_DS17519,BMG_DS067134,"Growth retardation, mild developmental delay, chronic hepatitis syndrome",UMLS ID:C4751595,"Growth retardation, mild developmental delay, chronic hepatitis syndrome | Growth retardation, mild developmental delay, chronic hepatitis syndrome (disorder)",SNOMEDCT ID:774204006,,,growth retardation-mild developmental delay-chronic hepatitis syndrome,MONDO:0018317,,,,,, +BMGC_DS17520,BMG_DS067135,"Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome",UMLS ID:C4751596,"Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome | Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)",SNOMEDCT ID:774205007,,,,,,,,,, +BMGC_DS17521,BMG_DS067136,Fatal post-viral neurodegenerative disorder,UMLS ID:C4751597,Fatal post-viral neurodegenerative disorder | Fatal post-viral neurodegenerative disorder (disorder),SNOMEDCT ID:774206008,,,fatal post-viral neurodegenerative disorder,MONDO:0018316,,,,,, +BMGC_DS17522,BMG_DS067137,Acute infantile liver failure with multisystemic involvement syndrome,UMLS ID:C4751598,Acute infantile liver failure with multisystemic involvement syndrome | Acute infantile liver failure with multisystemic involvement syndrome (disorder),SNOMEDCT ID:774207004,,,,,,,,,, +BMGC_DS17523,BMG_DS067141,"Microcornea, myopic chorioretinal atrophy, telecanthus syndrome",UMLS ID:C4751602,"Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | MMCAT syndrome | MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome",SNOMEDCT ID:774212003,,,,,,,,,, +BMGC_DS17524,BMG_DS067143,"Congenital neutropenia, myelofibrosis, nephromegaly syndrome",UMLS ID:C4755251,"Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome | VPS45 deficiency | Congenital neutropenia, myelofibrosis, nephromegaly syndrome",SNOMEDCT ID:775909002,,,,,,,,,, +BMGC_DS17525,BMG_DS067144,Autosomal recessive cerebral atrophy,UMLS ID:C4755252,Autosomal recessive cerebral atrophy | Autosomal recessive cerebral atrophy (disorder),SNOMEDCT ID:776087007,,,autosomal recessive cerebral atrophy,MONDO:0018218,,,,,, +BMGC_DS17526,BMG_DS067146,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,UMLS ID:C4755254,"HBSL - hypomyelination, brain stem, spinal cord, leg spasticity | Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) | Hypomyelination with brain stem and spinal cord involvement and leg spasticity",SNOMEDCT ID:777999008,,,hypomyelination with brain stem and spinal cord involvement and leg spasticity,MONDO:0014115,,,,,,OMIM ID:615281 +BMGC_DS17527,BMG_DS067148,KCNQ2-related epileptic encephalopathy,UMLS ID:C4755256,Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | KCNQ2-related neonatal epileptic encephalopathy | KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy | KCNQ2-related epileptic encephalopathy | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy,SNOMEDCT ID:778001003,,,,,,,,,, +BMGC_DS17528,BMG_DS067149,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,UMLS ID:C4755257,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder),SNOMEDCT ID:778003000,,,autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,MONDO:0017937,,,,,, +BMGC_DS17529,BMG_DS067151,Autosomal dominant aplasia and myelodysplasia,UMLS ID:C4755259,Autosomal dominant aplasia and myelodysplasia (disorder) | Autosomal dominant aplasia and myelodysplasia | Autosomal dominant aplastic anaemia and myelodysplasia | Autosomal dominant aplastic anemia and myelodysplasia,SNOMEDCT ID:778006008,,,,,,,,,, +BMGC_DS17530,BMG_DS067152,12p12.1 microdeletion syndrome,UMLS ID:C4755260,12p12.1 microdeletion syndrome | Monosomy 12p12.1 | 12p12.1 microdeletion syndrome (disorder),SNOMEDCT ID:778007004,,,12p12.1 microdeletion syndrome,MONDO:0017781,,,,,, +BMGC_DS17531,BMG_DS067153,FGFR2-related bent bone dysplasia,UMLS ID:C4755261,Perinatal lethal bent bone dysplasia | Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) | Fibroblast growth factor receptor 2-related bent bone dysplasia | FGFR2-related bent bone dysplasia,SNOMEDCT ID:778008009,,,,,,,,,, +BMGC_DS17532,BMG_DS067155,"Skin fragility, wooly hair, palmoplantar keratoderma syndrome",UMLS ID:C4755263,"Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Skin fragility, wooly hair, palmoplantar keratoderma syndrome",SNOMEDCT ID:778010006,,,skin fragility-woolly hair-palmoplantar keratoderma syndrome,MONDO:0011882,,,,,,OMIM ID:607655 +BMGC_DS17533,BMG_DS067156,Severe intellectual disability and progressive spastic paraplegia,UMLS ID:C4755264,Severe intellectual disability and progressive spastic paraplegia | Severe intellectual disability and progressive spastic paraplegia (disorder) | AP4 deficiency syndrome,SNOMEDCT ID:778011005,,,,,,,,,, +BMGC_DS17534,BMG_DS067160,"Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome",UMLS ID:C4755272,"Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome | Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder) | Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome",SNOMEDCT ID:778021002,,,,,,,,,, +BMGC_DS17535,BMG_DS067161,Syndromic multisystem autoimmune disease due to ITCH deficiency,UMLS ID:C4755273,Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) | Syndromic multisystem autoimmune disease due to ITCH deficiency | Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency,SNOMEDCT ID:778023004,,,,,,,,,, +BMGC_DS17536,BMG_DS067162,Atypical hypotonia cystinuria syndrome,UMLS ID:C4755274,Atypical hypotonia cystinuria syndrome (disorder) | Atypical hypotonia cystinuria syndrome,SNOMEDCT ID:778025006,,,atypical hypotonia-cystinuria syndrome,MONDO:0016539,,,,,, +BMGC_DS17537,BMG_DS067163,Lethal polymalformative syndrome Boissel type,UMLS ID:C4755275,Lethal polymalformative syndrome Boissel type | Lethal polymalformative syndrome Boissel type (disorder),SNOMEDCT ID:778026007,,,,,,,,,, +BMGC_DS17538,BMG_DS067164,Primary CD59 deficiency,UMLS ID:C4755276,Primary CD59 deficiency | Primary CD59 deficiency (disorder),SNOMEDCT ID:778027003,,,,,,,,,, +BMGC_DS17539,BMG_DS067165,Immunodeficiency due to CD25 deficiency,UMLS ID:C4755277,Interleukin-2 receptor alpha chain deficiency | Immunodeficiency due to CD25 deficiency (disorder) | Immunodeficiency due to CD25 deficiency,SNOMEDCT ID:778028008,,,,,,,,,, +BMGC_DS17540,BMG_DS067166,FASTKD2-related infantile mitochondrial encephalomyopathy,UMLS ID:C4755278,FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy | FASTKD2-related infantile mitochondrial encephalomyopathy,SNOMEDCT ID:778029000,,,FASTKD2-related infantile mitochondrial encephalomyopathy,MONDO:0015632,,,,,, +BMGC_DS17541,BMG_DS067174,Susceptibility to viral and mycobacterial infection,UMLS ID:C4755296,Signal transducer and activator of transcription 1 deficiency | STAT1 deficiency | Susceptibility to viral and mycobacterial infection | Susceptibility to viral and mycobacterial infection (disorder),SNOMEDCT ID:778045003,,,,,,,,,, +BMGC_DS17542,BMG_DS067177,MT-ATP6-related mitochondrial spastic paraplegia,UMLS ID:C4755299,Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia | Mitochondrially encoded ATP synthase membrane subunit 6-related mitochondrial spastic paraplegia (disorder) | Maternally-inherited spastic paraplegia | MT-ATP6-related mitochondrial spastic paraplegia,SNOMEDCT ID:778048001,,,maternally-inherited spastic paraplegia,MONDO:0017917,,,,,, +BMGC_DS17543,BMG_DS067180,Focal palmoplantar keratoderma with joint keratoses,UMLS ID:C4755302,Focal palmoplantar keratoderma with joint keratoses (disorder) | Focal palmoplantar keratoderma with joint keratoses,SNOMEDCT ID:778051008,,,focal palmoplantar keratoderma with joint keratoses,MONDO:0018252,,,,,, +BMGC_DS17544,BMG_DS067181,COL4A1-related familial vascular leukoencephalopathy,UMLS ID:C4755307,"Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) | COL4A1-related familial vascular leukoencephalopathy | Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leukoencephalopathy syndrome | COL4A1-related brain small vessel disease with hemorrhage | COL4A1-related brain small vessel disease with haemorrhage | COL4A1-related familial vascular leucoencephalopathy | Collagen type IV alpha 1 chain related familial vascular leucoencephalopathy | COL4A1-related retinal arteriolar tortuosity, infantile hemiparesis, autosomal dominant leucoencephalopathy syndrome",SNOMEDCT ID:778060000,,,,,,,,,, +BMGC_DS17545,BMG_DS067183,Diffuse palmoplantar keratoderma with painful fissures,UMLS ID:C4755309,Diffuse palmoplantar keratoderma with painful fissures | Diffuse palmoplantar keratoderma with painful fissures (disorder),SNOMEDCT ID:778062008,,,diffuse palmoplantar keratoderma with painful fissures,MONDO:0018250,,,,,, +BMGC_DS17546,BMG_DS067186,Combined oxidative phosphorylation defect type 14,UMLS ID:C4755312,Combined oxidative phosphorylation defect type 14 | Combined oxidative phosphorylation defect type 14 (disorder) | COXPD14 - combined oxidative phosphorylation defect type 14,SNOMEDCT ID:778065005,,,combined oxidative phosphorylation defect type 14,MONDO:0013986,,,,,,OMIM ID:614946 +BMGC_DS17547,BMG_DS067189,Undifferentiated myeloproliferative disease,UMLS ID:C4757947,CMPD-U - chronic myeloproliferative disease unclassifiable | Undifferentiated myeloproliferative disease (disorder) | Undifferentiated myeloproliferative disease,SNOMEDCT ID:780817000,,,,,,,,,, +BMGC_DS17548,BMG_DS067190,Isolated ATP synthase deficiency,UMLS ID:C4757950,Isolated mitochondrial respiratory chain complex V deficiency | Isolated ATP synthase deficiency | Isolated adenosine triphosphate synthase deficiency (disorder) | Isolated adenosine triphosphate synthase deficiency,SNOMEDCT ID:780820008,,,mitochondrial proton-transporting ATP synthase complex deficiency,MONDO:0014471,,,mitochondrial complex V (ATP synthase) deficiency,DOID:0111143,, +BMGC_DS17549,BMG_DS067364,Iodine deficiency,UMLS ID:C4759669,Iodine deficiency | Iodine deficiency (disorder),SNOMEDCT ID:191020009 | SNOMEDCT ID:238121000,,,,,,,,,, +BMGC_DS17550,BMG_DS067365,Deficiency of interleukin 36 receptor antagonist,UMLS ID:C4759670,DITRA - deficiency of interleukin 36 receptor antagonist | Deficiency of IL-36R antagonist | Deficiency of interleukin 36 receptor antagonist | Deficiency of interleukin 36 receptor antagonist (disorder) | Deficiency of IL-36Ra (interleukin 36 receptor antagonist),SNOMEDCT ID:784339002,,,,,,,,,, +BMGC_DS17551,BMG_DS067368,Diabetic Glomerulosclerosis,UMLS ID:C4759706,,,,,,,Diabetic Nephropathies,MeSH ID:D003928,,,, +BMGC_DS17552,BMG_DS067373,,UMLS ID:C4759728,,,,,osteoarthritis susceptibility 5,MONDO:0012893,,,,,,OMIM ID:612400 +BMGC_DS17553,BMG_DS067374,Spondylometaphyseal dysplasia,UMLS ID:C4759767,Kozlowski spondylometaphyseal dysplasia | Kozlowski spondylometaphyseal dysplasia (disorder) | Spondylometaphyseal dysplasia Kozlowski type | Spondylometaphyseal dysplasia | Spondylometaphyseal dysplasia (disorder),SNOMEDCT ID:111304003 | SNOMEDCT ID:784006008,,,spondylometaphyseal dysplasia,MONDO:0016763,,,,,,OMIM ID:MTHU002631 +BMGC_DS17554,BMG_DS067375,"Scapuloperoneal Myopathy, MYH7-Related",UMLS ID:C4759774,,,,,,,"Muscular Dystrophy, Emery-Dreifuss",MeSH ID:D020389,,,, +BMGC_DS17555,BMG_DS067376,"INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1",UMLS ID:C4759781,,,,,"intellectual disability-hypotonic facies syndrome, X-linked, 1",MONDO:0010663,,,,,,OMIM ID:309580 +BMGC_DS17556,BMG_DS067380,"EPILEPSY, FAMILIAL TEMPORAL LOBE, 2",UMLS ID:C4759869,,,,,familial temporal lobe epilepsy 2,MONDO:0011965,,,familial temporal lobe epilepsy 2,DOID:0060755,,OMIM ID:608096 +BMGC_DS17557,BMG_DS067381,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1",UMLS ID:C4759870,,,,,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",MONDO:0011801,,,,,,OMIM ID:607198 | OMIM ID:607250 +BMGC_DS17558,BMG_DS067382,"DEAFNESS, AUTOSOMAL DOMINANT 37",UMLS ID:C4760307,,,,,"hearing loss, autosomal dominant 37",MONDO:0032802,,,autosomal dominant nonsyndromic deafness 37,DOID:0070601,,OMIM ID:618533 | OMIM ID:120280 +BMGC_DS17559,BMG_DS067384,Arthrosis,UMLS ID:C4760573,,,,,,,Osteoarthritis,MeSH ID:D010003,,,, +BMGC_DS17560,BMG_DS067385,FETAL AKINESIA DEFORMATION SEQUENCE 2,UMLS ID:C4760576,,,,,fetal akinesia deformation sequence 2,MONDO:0100102,,,fetal akinesia deformation sequence syndrome 2,DOID:0111378,,OMIM ID:601592 | OMIM ID:618388 +BMGC_DS17561,BMG_DS067386,FETAL AKINESIA DEFORMATION SEQUENCE 4,UMLS ID:C4760578,,,,,fetal akinesia deformation sequence 4,MONDO:0100104,,,fetal akinesia deformation sequence syndrome 4,DOID:0111379,,OMIM ID:602552 | OMIM ID:618393 +BMGC_DS17562,BMG_DS067387,"DEAFNESS, AUTOSOMAL RECESSIVE 99",UMLS ID:C4760579,,,,,"hearing loss, autosomal recessive 99",MONDO:0032776,,,autosomal recessive nonsyndromic deafness 99,DOID:0111634,,OMIM ID:618481 | OMIM ID:616178 +BMGC_DS17563,BMG_DS067388,COFFIN-SIRIS SYNDROME 10,UMLS ID:C4760583,,,,,Coffin-Siris syndrome 10,MONDO:0032791,,,Coffin-Siris syndrome 10,DOID:0112371,,OMIM ID:618506 +BMGC_DS17564,BMG_DS067389,FETAL AKINESIA DEFORMATION SEQUENCE 3,UMLS ID:C4760599,,,,,fetal akinesia deformation sequence 3,MONDO:0100103,,,fetal akinesia deformation sequence syndrome 3,DOID:0111376,,OMIM ID:618389 | OMIM ID:610285 +BMGC_DS17565,BMG_DS067390,,UMLS ID:C4760647,,,,,uridine-cytidineuria,MONDO:0032773,,,,,,OMIM ID:618477 +BMGC_DS17566,BMG_DS067391,Aneurysm osteoarthritis syndrome,UMLS ID:C4760764,Aneurysm osteoarthritis syndrome (disorder) | Aneurysm osteoarthritis syndrome,SNOMEDCT ID:785808002,,,,,,,,,, +BMGC_DS17567,BMG_DS067392,Recessive mitochondrial ataxia syndrome,UMLS ID:C4760799,Recessive mitochondrial ataxia syndrome (disorder) | Recessive mitochondrial ataxia syndrome | MIRAS - mitochondrial recessive ataxia syndrome,SNOMEDCT ID:782696001,,,recessive mitochondrial ataxia syndrome,MONDO:0019791,,,,,, +BMGC_DS17568,BMG_DS067393,Familial Horizontal Gaze Palsy with Progressive Scoliosis,UMLS ID:C4760875,,,,,horizontal gaze palsy with progressive scoliosis,MONDO:0011810,,MeSH ID:C564593,,,, +BMGC_DS17569,BMG_DS067394,Autosomal recessive brachyolmia,UMLS ID:C4760908,Autosomal recessive brachyolmia (disorder) | Autosomal recessive brachyolmia | Brachyolmia Hobaek/Toledo type,SNOMEDCT ID:783789002,,,autosomal recessive brachyolmia,MONDO:0018662,,,,,, +BMGC_DS17570,BMG_DS067395,,UMLS ID:C4760957,,,,,recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome,MONDO:0016676,,,,,, +BMGC_DS17571,BMG_DS067398,Muscle-Specific Receptor Tyrosine Kinase Myasthenia Gravis,UMLS ID:C4761103,,,,,,,Myasthenia Gravis,MeSH ID:D009157,,,, +BMGC_DS17572,BMG_DS067406,GCGR-related hyperglucagonemia,UMLS ID:C4763635,Glucagon receptor-related hyperglucagonemia (disorder) | Mahvash disease | Glucagon receptor-related hyperglucagonaemia | GCGR-related hyperglucagonemia | GCGR-related hyperglucagonaemia | Glucagon receptor-related hyperglucagonemia,SNOMEDCT ID:1228875006,,,GCGR-related hyperglucagonemia,MONDO:0018582,,,,,,OMIM ID:619290 +BMGC_DS17573,BMG_DS067410,,UMLS ID:C5139324,,,,,bilateral generalized polymicrogyria,MONDO:0013907,,,,,, +BMGC_DS17574,BMG_DS067494,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,UMLS ID:C5190574,Autosomal recessive cerebellar ataxia due to STUB1 deficiency | Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) | Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency | Spinocerebellar ataxia autosomal recessive type 16 | Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency | SCAR16 - spinocerebellar ataxia autosomal recessive type 16,SNOMEDCT ID:782719004,,,autosomal recessive spinocerebellar ataxia 16,MONDO:0014339,,,,,,OMIM ID:615768 +BMGC_DS17575,BMG_DS067495,Congenital pontocerebellar hypoplasia type 10,UMLS ID:C5190575,Congenital pontocerebellar hypoplasia type 10 (disorder) | Congenital pontocerebellar hypoplasia type 10 | CLP1-related pontocerebellar hypoplasia | CLP1 (cleavage and polyadenylation factor I subunit 1) related pontocerebellar hypoplasia,SNOMEDCT ID:782720005,,,pontocerebellar hypoplasia type 10,MONDO:0014349,,,,,,OMIM ID:615803 +BMGC_DS17576,BMG_DS067496,"Severe intellectual disability, progressive spastic diplegia syndrome",UMLS ID:C5190576,"Severe intellectual disability, progressive spastic diplegia syndrome (disorder) | Severe intellectual disability, progressive spastic diplegia syndrome",SNOMEDCT ID:782723007,,,,,,,,,, +BMGC_DS17577,BMG_DS067497,Autosomal recessive spastic paraplegia type 69,UMLS ID:C5190577,Autosomal recessive spastic paraplegia type 69 | Autosomal recessive spastic paraplegia type 69 (disorder),SNOMEDCT ID:782725000,,,autosomal recessive spastic paraplegia type 69,MONDO:0018421,,,,,, +BMGC_DS17578,BMG_DS067498,Autosomal recessive spastic paraplegia type 71,UMLS ID:C5190578,Autosomal recessive spastic paraplegia type 71 | Autosomal recessive spastic paraplegia type 71 (disorder),SNOMEDCT ID:782726004,,,autosomal recessive spastic paraplegia type 71,MONDO:0018423,,,,,, +BMGC_DS17579,BMG_DS067500,"Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency",UMLS ID:C5190582,"Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency",SNOMEDCT ID:782736007,,,,,,,,,, +BMGC_DS17580,BMG_DS067501,"Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome",UMLS ID:C5190583,"Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome | Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder)",SNOMEDCT ID:782737003,,,,,,,,,, +BMGC_DS17581,BMG_DS067503,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,UMLS ID:C5190585,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons | Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons | Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (disorder),SNOMEDCT ID:782742006,,,,,,,,,, +BMGC_DS17582,BMG_DS067504,Huntington disease-like syndrome due to C9ORF72 expansions,UMLS ID:C5190586,Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) | Huntington disease-like syndrome due to C9ORF72 expansions | Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions | C9ORF72-related Huntington disease phenocopy,SNOMEDCT ID:782743001,,,Huntington disease-like syndrome due to C9ORF72 expansions,MONDO:0018425,,,,,, +BMGC_DS17583,BMG_DS067505,Lipoic acid synthetase deficiency,UMLS ID:C5190587,Lipoic acid synthetase deficiency (disorder) | Lipoic acid synthetase deficiency,SNOMEDCT ID:782744007,,,,,,,,,, +BMGC_DS17584,BMG_DS067506,Lipoyl transferase 1 deficiency,UMLS ID:C5190588,Lipoyl transferase 1 deficiency (disorder) | Lipoyl transferase 1 deficiency,SNOMEDCT ID:782745008,,,,,,,,,, +BMGC_DS17585,BMG_DS067507,Autosomal recessive spastic paraplegia type 60,UMLS ID:C5190589,Autosomal recessive spastic paraplegia type 60 | Autosomal recessive spastic paraplegia type 60 (disorder),SNOMEDCT ID:782746009,,,autosomal recessive spastic paraplegia type 60,MONDO:0018417,,,,,, +BMGC_DS17586,BMG_DS067508,Autosomal recessive spastic paraplegia type 66,UMLS ID:C5190590,Autosomal recessive spastic paraplegia type 66 | Autosomal recessive spastic paraplegia type 66 (disorder),SNOMEDCT ID:782747000,,,autosomal recessive spastic paraplegia type 66,MONDO:0018418,,,,,, +BMGC_DS17587,BMG_DS067510,Severe combined immunodeficiency due to IKK2 deficiency,UMLS ID:C5190593,Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency | Severe combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta deficiency (disorder) | Severe combined immunodeficiency due to IKK2 deficiency,SNOMEDCT ID:782751003,,,,,,,,,, +BMGC_DS17588,BMG_DS067511,"Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome",UMLS ID:C5190594,"Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome | Peripheral neuropathy, myopathy, hoarseness, deafness syndrome | Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder)",SNOMEDCT ID:782752005,,,,,,,,,, +BMGC_DS17589,BMG_DS067512,"Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome",UMLS ID:C5190595,"Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | SCAR20 - autosomal recessive spinocerebellar ataxia type 20 | Autosomal recessive spinocerebellar ataxia type 20 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)",SNOMEDCT ID:782753000,,,autosomal recessive spinocerebellar ataxia 20,MONDO:0014601,,,,,,OMIM ID:616354 +BMGC_DS17590,BMG_DS067513,"Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome",UMLS ID:C5190596,"Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome | FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome | FHONDA syndrome",SNOMEDCT ID:782754006,,,,,,,foveal hypoplasia 2,DOID:0070531,, +BMGC_DS17591,BMG_DS067514,"Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome",UMLS ID:C5190597,"Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome",SNOMEDCT ID:782755007,,,primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,MONDO:0018320,,,,,, +BMGC_DS17592,BMG_DS067517,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,UMLS ID:C5190600,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia | X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia,SNOMEDCT ID:782759001,,,,,,,,,, +BMGC_DS17593,BMG_DS067518,Mitochondrial DNA depletion syndrome hepatocerebrorenal form,UMLS ID:C5190602,Mitochondrial DNA depletion syndrome hepatocerebrorenal form | Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder) | Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form,SNOMEDCT ID:782771007,,,"mitochondrial DNA depletion syndrome, hepatocerebrorenal form",MONDO:0018197,,,,,, +BMGC_DS17594,BMG_DS067519,Congenital muscular dystrophy with intellectual disability and severe epilepsy,UMLS ID:C5190603,Congenital muscular dystrophy with intellectual disability and severe epilepsy | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) | Congenital disorder of glycosylation type 1u | Carbohydrate deficient glycoprotein syndrome type 1u,SNOMEDCT ID:782772000,,,congenital muscular dystrophy with intellectual disability and severe epilepsy,MONDO:0014023,,,,,,OMIM ID:615042 +BMGC_DS17595,BMG_DS067520,Lethal arteriopathy syndrome due to fibulin-4 deficiency,UMLS ID:C5190604,Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) | Lethal arteriopathy syndrome due to fibulin-4 deficiency,SNOMEDCT ID:782773005,,,lethal arteriopathy syndrome due to fibulin-4 deficiency,MONDO:0017818,,,,,, +BMGC_DS17596,BMG_DS067523,High bone mass osteogenesis imperfecta,UMLS ID:C5190607,High bone mass osteogenesis imperfecta | High bone mass osteogenesis imperfecta (disorder),SNOMEDCT ID:782781006,,,high bone mass osteogenesis imperfecta,MONDO:0017791,,,,,, +BMGC_DS17597,BMG_DS067524,Autosomal recessive spondylometaphyseal dysplasia Megarbane type,UMLS ID:C5190608,Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) | Autosomal recessive spondylometaphyseal dysplasia Megarbane type,SNOMEDCT ID:782782004,,,,,,,,,, +BMGC_DS17598,BMG_DS067525,X-linked osteoporosis with fractures,UMLS ID:C5190610,X-linked osteoporosis with fractures | X-linked osteoporosis with fractures (disorder),SNOMEDCT ID:782785002,,,X-linked osteoporosis with fractures,MONDO:0018315,,,,,, +BMGC_DS17599,BMG_DS067526,X-linked calvarial hyperostosis,UMLS ID:C5190611,X-linked calvarial hyperostosis | X-linked calvarial hyperostosis (disorder),SNOMEDCT ID:782786001,,,X-linked calvarial hyperostosis,MONDO:0010541,,,,,,OMIM ID:302030 +BMGC_DS17600,BMG_DS067529,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,UMLS ID:C5190630,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,SNOMEDCT ID:782823001,,,,,,,,,, +BMGC_DS17601,BMG_DS067530,Sodium channelopathy-related small fiber neuropathy,UMLS ID:C5190631,Sodium channelopathy-related small fibre neuropathy | Sodium channelopathy-related small fiber neuropathy | Sodium channelopathy-related small fiber neuropathy (disorder),SNOMEDCT ID:782824007,,,,,,,,,, +BMGC_DS17602,BMG_DS067531,"Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome",UMLS ID:C5190632,"Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome | Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)",SNOMEDCT ID:782825008,,,,,,,,,, +BMGC_DS17603,BMG_DS067532,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,UMLS ID:C5190633,Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) | Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | Developmental delay due to MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency,SNOMEDCT ID:782828005,,,,,,,,,, +BMGC_DS17604,BMG_DS067535,Autosomal recessive nail dysplasia,UMLS ID:C5190687,Autosomal recessive nail dysplasia | Autosomal recessive nail dysplasia (disorder),SNOMEDCT ID:782878007,,,,,,,,,, +BMGC_DS17605,BMG_DS067536,Hemoglobinopathy Toms River,UMLS ID:C5190689,Haemoglobinopathy Toms River | Hemoglobinopathy Toms River (disorder) | Hemoglobinopathy Toms River | Transient neonatal cyanosis and anemia due to Toms River Hemoglobin | Transient neonatal cyanosis and anaemia due to Toms River Haemoglobin,SNOMEDCT ID:782880001,,,hemoglobinopathy Toms River,MONDO:0017238,,,,,, +BMGC_DS17606,BMG_DS067537,Hereditary sensorimotor neuropathy with hyperelastic skin,UMLS ID:C5190690,Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) | Hereditary sensorimotor neuropathy with hyperelastic skin,SNOMEDCT ID:782881002,,,hereditary sensorimotor neuropathy with hyperelastic skin,MONDO:0017237,,,,,, +BMGC_DS17607,BMG_DS067538,Fatal infantile hypertonic myofibrillar myopathy,UMLS ID:C5190691,Fatal infantile hypertonic myofibrillar myopathy (disorder) | Fatal infantile hypertonic myofibrillar myopathy,SNOMEDCT ID:782883004,,,fatal infantile hypertonic myofibrillar myopathy,MONDO:0013472,,,,,,OMIM ID:613869 +BMGC_DS17608,BMG_DS067539,"Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome",UMLS ID:C5190692,"Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) | Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome",SNOMEDCT ID:782886007,,,infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,MONDO:0016981,,,,,, +BMGC_DS17609,BMG_DS067540,Inherited congenital spastic tetraplegia,UMLS ID:C5190693,Inherited congenital spastic tetraplegia | Inherited congenital spastic quadriplegia | Inherited congenital spastic tetraplegia (disorder),SNOMEDCT ID:782887003,,,,,,,,,, +BMGC_DS17610,BMG_DS067543,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,UMLS ID:C5190706,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | Haemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (disorder),SNOMEDCT ID:782909004,,,hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,MONDO:0015801,,,,,, +BMGC_DS17611,BMG_DS067544,Hereditary cryohydrocytosis with reduced stomatin,UMLS ID:C5190707,Hereditary cryohydrocytosis with reduced stomatin | Hereditary cryohydrocytosis with reduced stomatin (disorder) | sdCHC - stomatin-deficient cryohydrocytosis | Hereditary cryohydrocytosis type 2 | CHC (hereditary cryohydrocytosis) type 2 | Stomatin-deficient cryohydrocytosis,SNOMEDCT ID:782911008,,,,,,,,,, +BMGC_DS17612,BMG_DS067546,"Brachydactyly, short stature, retinitis pigmentosa syndrome",UMLS ID:C5190709,"Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) | Brachydactyly, short stature, retinitis pigmentosa syndrome",SNOMEDCT ID:782914000,,,,,,,,,, +BMGC_DS17613,BMG_DS067564,Recurrent Neisseria infection due to factor D deficiency,UMLS ID:C5190780,Recurrent Neisseria infection due to factor D deficiency | Recurrent Neisseria infection due to factor D deficiency (disorder),SNOMEDCT ID:783007005,,,,,,,,,, +BMGC_DS17614,BMG_DS067571,Progressive myoclonic epilepsy type 5,UMLS ID:C5190799,Progressive myoclonic epilepsy type 5 (disorder) | Progressive myoclonus epilepsy type 5 | Progressive myoclonic epilepsy type 5 | PME (progressive myoclonic epilepsy) type 5,SNOMEDCT ID:783055005,,,,,,,,,, +BMGC_DS17615,BMG_DS067573,Atypical dentin dysplasia due to SMOC2 deficiency,UMLS ID:C5190802,Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) | Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency | Atypical dentin dysplasia due to SMOC2 deficiency | Dentin dysplasia type 1 with microdontia and shape anomalies,SNOMEDCT ID:783059004,,,atypical dentin dysplasia due to SMOC2 deficiency,MONDO:0017819,,,,,, +BMGC_DS17616,BMG_DS067574,"Autosomal recessive cerebellar ataxia, psychomotor delay syndrome",UMLS ID:C5190803,"Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) | Autosomal recessive cerebellar ataxia, psychomotor delay syndrome | Autosomal recessive spinocerebellar ataxia type 11",SNOMEDCT ID:783060009,,,autosomal recessive spinocerebellar ataxia 11,MONDO:0013645,,,,,,OMIM ID:614229 +BMGC_DS17617,BMG_DS067575,"Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion",UMLS ID:C5190804,"Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) | Monosomy 10p11.21p12.31 | Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | 10p12p11 microdeletion syndrome | Deletion 10p11.21p12.31 | Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion",SNOMEDCT ID:783061008,,,DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion,MONDO:0017283,,,,,, +BMGC_DS17618,BMG_DS067576,Progressive myoclonic epilepsy type 6,UMLS ID:C5190805,Progressive myoclonic epilepsy type 6 (disorder) | Progressive myoclonic epilepsy type 6 | North Sea progressive myoclonus epilepsy | Progressive myoclonus epilepsy type 6 | GOSR2 (golgi SNAP receptor complex member 2) related progressive myoclonus ataxia | GOSR2-related progressive myoclonus ataxia | PME (progressive myoclonic epilepsy) type 6,SNOMEDCT ID:783062001,,,progressive myoclonic epilepsy type 6,MONDO:0013526,,,,,,OMIM ID:614018 +BMGC_DS17619,BMG_DS067577,Autosomal recessive optic atrophy type 7,UMLS ID:C5190807,Autosomal recessive optic atrophy OPA7 type | Autosomal recessive optic atrophy OPA7 (optic atrophy type 7) | Autosomal recessive optic atrophy type 7 (disorder) | Autosomal recessive optic atrophy type 7,SNOMEDCT ID:783065004,,,,,,,,,, +BMGC_DS17620,BMG_DS067578,"Macrocephaly, intellectual disability, autism syndrome",UMLS ID:C5190809,"Macrocephaly, intellectual disability, autism syndrome (disorder) | Macrocephaly, intellectual disability, autism syndrome",SNOMEDCT ID:783089006,,,,,,,,,, +BMGC_DS17621,BMG_DS067579,"46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome",UMLS ID:C5190810,"46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome | 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)",SNOMEDCT ID:783091003,,,,,,,,,, +BMGC_DS17622,BMG_DS067580,"46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency",UMLS ID:C5190811,"46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency | 46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) | XY sex reversal adrenal failure | 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency",SNOMEDCT ID:783092005,,,,,,,,,, +BMGC_DS17623,BMG_DS067582,Short stature due to partial growth hormone receptor deficiency,UMLS ID:C5190814,Short stature due to partial growth hormone receptor deficiency | Short stature due to partial growth hormone receptor deficiency (disorder) | Short stature due to partial GHR (growth hormone receptor) deficiency,SNOMEDCT ID:783098009,,,,,,,,,, +BMGC_DS17624,BMG_DS067583,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,UMLS ID:C5190822,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder),SNOMEDCT ID:783136007,,,,,,,,,, +BMGC_DS17625,BMG_DS067586,Progressive myoclonic epilepsy type 8,UMLS ID:C5190825,Progressive myoclonic epilepsy type 8 (disorder) | Progressive myoclonic epilepsy type 8 | Progressive myoclonus epilepsy type 8 | Progressive myoclonic epilepsy due to CERS1 (ceramide synthase 1) deficiency | Progressive myoclonic epilepsy due to ceramide synthase 1 deficiency | PME (progressive myoclonic epilepsy) type 8,SNOMEDCT ID:783139000,,,progressive myoclonic epilepsy type 8,MONDO:0014545,,,,,,OMIM ID:616230 +BMGC_DS17626,BMG_DS067587,Pancytopenia due to IKZF1 mutations,UMLS ID:C5190826,Pancytopenia due to IKZF1 mutations | Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) | Combined immunodeficiency due to IKAROS deficiency | Pancytopenia due to IKAROS family zinc finger 1 mutations,SNOMEDCT ID:783142006,,,,,,,,,, +BMGC_DS17627,BMG_DS067588,Distal nebulin myopathy,UMLS ID:C5190827,Distal nebulin myopathy | Nebulin-related early-onset distal myopathy | Distal nebulin myopathy (disorder),SNOMEDCT ID:783148005,,,nebulin-related early-onset distal myopathy,MONDO:0018371,,,,,, +BMGC_DS17628,BMG_DS067594,Familial dementia British type,UMLS ID:C5190835,Familial dementia British type (disorder) | Familial dementia British type | ABri amyloidosis | Familial British dementia with amyloid angiopathy,SNOMEDCT ID:783161005,,,ABri amyloidosis,MONDO:0008306,,,,,,OMIM ID:176500 +BMGC_DS17629,BMG_DS067597,Congenital muscular dystrophy with intellectual disability,UMLS ID:C5190846,Congenital muscular dystrophy with intellectual disability | Congenital muscular dystrophy with intellectual disability (disorder),SNOMEDCT ID:783174004,,,congenital muscular dystrophy with intellectual disability,MONDO:0018278,,,,,, +BMGC_DS17630,BMG_DS067598,Congenital muscular dystrophy without intellectual disability,UMLS ID:C5190847,Congenital muscular dystrophy without intellectual disability (disorder) | Congenital muscular dystrophy without intellectual disability,SNOMEDCT ID:783175003,,,congenital muscular dystrophy without intellectual disability,MONDO:1040033,,,,,, +BMGC_DS17631,BMG_DS067599,Congenital muscular dystrophy with cerebellar involvement,UMLS ID:C5190848,Congenital muscular dystrophy with cerebellar involvement | Congenital muscular dystrophy with cerebellar involvement (disorder),SNOMEDCT ID:783176002,,,,,,,,,, +BMGC_DS17632,BMG_DS067604,Chronic respiratory distress with surfactant metabolism deficiency,UMLS ID:C5190853,Chronic respiratory distress with surfactant metabolism deficiency (disorder) | Chronic respiratory distress with surfactant metabolism deficiency,SNOMEDCT ID:783182004,,,chronic respiratory distress with surfactant metabolism deficiency,MONDO:0016323,,,,,, +BMGC_DS17633,BMG_DS067609,Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation,UMLS ID:C5190860,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder) | Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation | Autosomal recessive spastic paraplegia type 49 | Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation,SNOMEDCT ID:783198006,,,,,,,,,, +BMGC_DS17634,BMG_DS067610,Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,UMLS ID:C5190861,Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency | Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency | Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency (disorder),SNOMEDCT ID:783199003,,,,,,,,,, +BMGC_DS17635,BMG_DS067611,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,UMLS ID:C5190862,Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency | Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (disorder) | Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency,SNOMEDCT ID:783200000,,,autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,MONDO:0018487,,,,,, +BMGC_DS17636,BMG_DS067612,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,UMLS ID:C5190863,Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency | Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency | Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency (disorder),SNOMEDCT ID:783201001,,,,,,,,,, +BMGC_DS17637,BMG_DS067613,Autosomal dominant secondary polycythemia,UMLS ID:C5190864,Autosomal dominant secondary polycythemia (disorder) | Autosomal dominant secondary polycythemia | Autosomal dominant secondary polycythaemia | Autosomal dominant secondary erythrocytosis,SNOMEDCT ID:783202008,,,,,,,,,, +BMGC_DS17638,BMG_DS067619,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,UMLS ID:C5190882,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder) | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | Primary immunodeficiency with post-MMR (measles-mumps-rubella) vaccine viral infection,SNOMEDCT ID:783245001,,,,,,,,,, +BMGC_DS17639,BMG_DS067620,"Megalocornea, spherophakia, secondary glaucoma syndrome",UMLS ID:C5190883,"Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Megalocornea, spherophakia, secondary glaucoma syndrome",SNOMEDCT ID:783246000,,,glaucoma secondary to spherophakia/ectopia lentis and megalocornea,MONDO:0016559,,,,,, +BMGC_DS17640,BMG_DS067623,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,UMLS ID:C5190887,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder),SNOMEDCT ID:783250007,,,,,,,,,, +BMGC_DS17641,BMG_DS067625,Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome,UMLS ID:C5190890,Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome | Hereditary persistence of fetal haemoglobin with sickle cell disease syndrome | Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome (disorder),SNOMEDCT ID:783254003,,,hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,MONDO:0016672,,,,,, +BMGC_DS17642,BMG_DS067626,Hereditary isolated aplastic anemia,UMLS ID:C5190891,Hereditary isolated aplastic anemia | Hereditary isolated aplastic anemia (disorder) | Hereditary isolated aplastic anaemia,SNOMEDCT ID:783255002,,,,,,,,,, +BMGC_DS17643,BMG_DS067628,Obesity due to CEP19 deficiency,UMLS ID:C5190985,Obesity due to centrosomal protein 19 deficiency | Obesity due to CEP19 deficiency | Obesity due to centrosomal protein 19 deficiency (disorder),SNOMEDCT ID:783549006,,,,,,,,,, +BMGC_DS17644,BMG_DS067629,"Ichthyosis, short stature, brachydactyly, microspherophakia syndrome",UMLS ID:C5190986,"Ichthyosis, short stature, brachydactyly, microspherophakia syndrome | Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder) | 15q26.3 microdeletion syndrome",SNOMEDCT ID:783551005,,,,,,,,,, +BMGC_DS17645,BMG_DS067630,Autosomal recessive limb girdle muscular dystrophy type 2U,UMLS ID:C5190987,Autosomal recessive limb girdle muscular dystrophy type 2U | Autosomal recessive limb girdle muscular dystrophy type 2U (disorder) | Autosomal recessive limb girdle muscular dystrophy due to ISPD deficiency | LGMD2U - autosomal recessive limb girdle muscular dystrophy type 2U,SNOMEDCT ID:783554002,,,autosomal recessive limb-girdle muscular dystrophy type 2U,MONDO:0014474,,,,,,OMIM ID:616052 +BMGC_DS17646,BMG_DS067632,Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency,UMLS ID:C5190989,Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) | Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency | Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency,SNOMEDCT ID:783556000,,,severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,MONDO:0017994,,,,,, +BMGC_DS17647,BMG_DS067633,Combined oxidative phosphorylation defect type 11,UMLS ID:C5190991,Combined oxidative phosphorylation defect type 11 | COXPD11 - combined oxidative phosphorylation defect type 11 | Combined oxidative phosphorylation defect type 11 (disorder),SNOMEDCT ID:783558004,,,combined oxidative phosphorylation defect type 11,MONDO:0013969,,,,,,OMIM ID:614922 +BMGC_DS17648,BMG_DS067638,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,UMLS ID:C5191003,Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) | Familial steroid-resistant nephrotic syndrome with sensorineural deafness,SNOMEDCT ID:783614008,,,,,,,,,, +BMGC_DS17649,BMG_DS067640,Perilipin 1 related familial partial lipodystrophy,UMLS ID:C5191005,PLIN1-related familial partial lipodystrophy | Perilipin 1 related familial partial lipodystrophy (disorder) | FPLD4 - familial partial lipodystrophy type 4 | Perilipin 1 related familial partial lipodystrophy,SNOMEDCT ID:783616005,,,PLIN1-related familial partial lipodystrophy,MONDO:0013478,,,,,,OMIM ID:613877 +BMGC_DS17650,BMG_DS067641,Severe combined immunodeficiency due to LCK deficiency,UMLS ID:C5191006,Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) | Severe combined immunodeficiency due to LCK (lymphocyte-specific protein-tyrosine kinase) deficiency | Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency | Severe combined immunodeficiency due to LCK deficiency,SNOMEDCT ID:783617001,,,,,,,,,, +BMGC_DS17651,BMG_DS067642,Lower motor neuron syndrome with late-adult onset,UMLS ID:C5191007,Lower motor neuron syndrome with late-adult onset (disorder) | Lower motor neuron syndrome with late-adult onset,SNOMEDCT ID:783618006,,,,,,,,,, +BMGC_DS17652,BMG_DS067643,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,UMLS ID:C5191008,Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | 21q22.13q22.2 microdeletion syndrome | Monosomy 21q22.13q22.2,SNOMEDCT ID:783619003,,,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,MONDO:0017056,,,,,, +BMGC_DS17653,BMG_DS067644,Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis,UMLS ID:C5191009,Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis | Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder) | Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis,SNOMEDCT ID:783620009,,,,,,,,,, +BMGC_DS17654,BMG_DS067645,Immunodeficiency with factor I anomaly,UMLS ID:C5191010,Complete factor I deficiency | Immunodeficiency with factor I anomaly (disorder) | Immunodeficiency with factor I anomaly,SNOMEDCT ID:783621008,,,,,,,,,, +BMGC_DS17655,BMG_DS067648,X-linked intellectual disability due to GRIA3 mutations,UMLS ID:C5191041,X-linked intellectual disability due to GRIA3 mutations | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations | X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations (disorder),SNOMEDCT ID:783702009,,,,,,,,,, +BMGC_DS17656,BMG_DS067651,Obesity due to SIM1 deficiency,UMLS ID:C5191050,Obesity due to SIM bHLH transcription factor 1 deficiency | Obesity due to SIM1 deficiency | Obesity due to SIM bHLH transcription factor 1 deficiency (disorder),SNOMEDCT ID:783719006,,,obesity due to SIM1 deficiency,MONDO:0018244,,,,,, +BMGC_DS17657,BMG_DS067655,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",UMLS ID:C5191055,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder) | Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency",SNOMEDCT ID:783734000,,,mitochondrial DNA depletion syndrome 3 (hepatocerebral type),MONDO:0009636,,,,,,OMIM ID:251880 +BMGC_DS17658,BMG_DS067658,"Hirschsprung disease, ganglioneuroblastoma syndrome",UMLS ID:C5191058,"Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) | Hirschsprung disease, ganglioneuroblastoma syndrome",SNOMEDCT ID:783737007,,,Hirschsprung disease-ganglioneuroblastoma syndrome,MONDO:0013082,,,,,, +BMGC_DS17659,BMG_DS067659,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,UMLS ID:C5191059,"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency | Hyperinsulinemic hypoglycaemia due to SUR1 deficiency, diazoxide-resistant focal form | Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form",SNOMEDCT ID:783740007,,,diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,MONDO:0017187,,,,,, +BMGC_DS17660,BMG_DS067660,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,UMLS ID:C5191060,"Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form | Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder)",SNOMEDCT ID:783741006,,,diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,MONDO:0017188,,,,,, +BMGC_DS17661,BMG_DS067661,Combined immunodeficiency with granulomatosis,UMLS ID:C5191061,Combined immunodeficiency with granulomatosis | Combined immunodeficiency due to RAG 1/2 deficiency | Combined immunodeficiency with granulomatosis (disorder) | Combined immunodeficiency due to RAG 1/2 (recombination activating gene 1/2) deficiency,SNOMEDCT ID:783743009,,,,,,,,,, +BMGC_DS17662,BMG_DS067662,Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene,UMLS ID:C5191076,Autosomal recessive secondary polycythaemia not associated with Von Hippel Lindau gene | Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder) | Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene | Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene | Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene | Autosomal recessive secondary polycythemia non-Chuvash type | Autosomal recessive secondary erythrocytosis non-Chuvash type | Autosomal recessive secondary polycythaemia non-Chuvash type,SNOMEDCT ID:783766005,,,,,,,,,, +BMGC_DS17663,BMG_DS067663,Autosomal recessive hyperinsulinism due to SUR1 deficiency,UMLS ID:C5191077,Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) | Autosomal recessive hyperinsulinism due to SUR1 deficiency | Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency | Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency | Autosomal recessive hyperinsulinemic hypoglycaemia due to SUR1 deficiency,SNOMEDCT ID:783767001,,,autosomal recessive hyperinsulinism due to SUR1 deficiency,MONDO:0019333,,,,,, +BMGC_DS17664,BMG_DS067664,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,UMLS ID:C5191078,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder) | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency | Autosomal recessive hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency,SNOMEDCT ID:783768006,,,autosomal recessive hyperinsulinism due to Kir6.2 deficiency,MONDO:0019334,,,,,, +BMGC_DS17665,BMG_DS067665,Alpha-B crystallin-related late-onset myopathy,UMLS ID:C5191079,Alpha-B crystallin-related late-onset myopathy | Alpha-B crystallin-related late-onset distal myopathy | Alpha-B crystallin-related late-onset myopathy (disorder) | Late-onset distal crystallinopathy,SNOMEDCT ID:783770002,,,,,,,,,, +BMGC_DS17666,BMG_DS067670,Combined immunodeficiency due to interleukin 21 receptor deficiency,UMLS ID:C5191307,Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder) | Combined immunodeficiency due to IL21R deficiency | Combined immunodeficiency due to interleukin 21 receptor deficiency,SNOMEDCT ID:784340000,,,,,,,,,, +BMGC_DS17667,BMG_DS067671,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,UMLS ID:C5191309,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation,SNOMEDCT ID:784344009,,,,,,,,,, +BMGC_DS17668,BMG_DS067672,Familial congenital mirror movements,UMLS ID:C5191311,Familial congenital controlateral synkinesia | Hereditary congenital mirror movements | Isolated congenital mirror movements | Familial congenital mirror movements | Hereditary congenital controlateral synkinesia | Isolated congenital controlateral synkinesia | Familial congenital mirror movements (disorder),SNOMEDCT ID:784348007,,,,,,,,,, +BMGC_DS17669,BMG_DS067674,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,UMLS ID:C5191317,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | Benign COX (cytochrome C oxidase) deficiency | Mitochondrial myopathy with reversible complex IV deficiency | Reversible infantile cytochrome C oxidase deficiency | Infantile reversible cytochrome C oxidase deficiency myopathy | Reversible infantile respiratory chain deficiency | Mitochondrial myopathy with reversible COX (cytochrome C oxidase) deficiency,SNOMEDCT ID:784370005,,,,,,,,,, +BMGC_DS17670,BMG_DS067675,Familial mesial temporal lobe epilepsy with febrile seizures,UMLS ID:C5191318,Familial mesial temporal lobe epilepsy with febrile seizures (disorder) | Familial mesial temporal lobe epilepsy with febrile seizures,SNOMEDCT ID:784372002,,,,,,,,,, +BMGC_DS17671,BMG_DS067683,Muscle eye brain disease with bilateral multicystic leukodystrophy,UMLS ID:C5191414,Muscle eye brain disease with bilateral multicystic leucodystrophy | Muscle eye brain disease with bilateral multicystic leukodystrophy | Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder),SNOMEDCT ID:785298001,,,muscle-eye-brain disease with bilateral multicystic leucodystrophy,MONDO:0018280,,,,,, +BMGC_DS17672,BMG_DS067684,"Multiple congenital anomalies, hypotonia, seizures syndrome",UMLS ID:C5191419,"Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) | Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency | PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation | Multiple congenital anomalies, hypotonia, seizures syndrome",SNOMEDCT ID:785303004,,,multiple congenital anomalies-hypotonia-seizures syndrome,MONDO:0100247,,,,,, +BMGC_DS17673,BMG_DS067690,Obesity due to leptin receptor gene deficiency,UMLS ID:C5191640,Obesity due to leptin receptor gene deficiency | Obesity due to leptin receptor gene deficiency (disorder),SNOMEDCT ID:785722006,,,,,,,,,, +BMGC_DS17674,BMG_DS067692,"Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome",UMLS ID:C5191642,"PASH syndrome | Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome (disorder) | Pyoderma gangrenosum, acne, suppurative hidradenitis syndrome | PASH (pyoderma gangrenosum, acne, suppurative hidradenitis) syndrome",SNOMEDCT ID:785724007,,,pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,MONDO:0017332,,,,,, +BMGC_DS17675,BMG_DS067693,Hyperekplexia epilepsy syndrome,UMLS ID:C5191643,Hyperekplexia epilepsy syndrome (disorder) | Hyperekplexia epilepsy syndrome,SNOMEDCT ID:785726009,,,,,,,,,, +BMGC_DS17676,BMG_DS067694,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,UMLS ID:C5191644,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) | Chronic infantile diarrhea due to guanylate cyclase 2C overactivity | Chronic infantile diarrhoea due to guanylate cyclase 2C overactivity,SNOMEDCT ID:785727000,,,,,,,,,, +BMGC_DS17677,BMG_DS067703,Synucleinopathies,UMLS ID:C5191670,,,,,synucleinopathy,MONDO:0000510,Synucleinopathies,MeSH ID:D000080874,,,, +BMGC_DS17678,BMG_DS067762,,UMLS ID:C5191836,,,,,familial papillary or follicular thyroid carcinoma,MONDO:0017895,,,,,, +BMGC_DS17679,BMG_DS067813,"Developmental delay, facial dysmorphism syndrome due to MED13L deficiency",UMLS ID:C5192431,"Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) | Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency | Developmental delay, facial dysmorphism syndrome due to MED13L deficiency",SNOMEDCT ID:787093004,,,,,,,,,, +BMGC_DS17680,BMG_DS067834,21q22.11q22.12 microdeletion syndrome,UMLS ID:C5192593,21q22.11q22.12 microdeletion syndrome | Monosomy 21q22.11q22.12 | 21q22.11q22.12 microdeletion syndrome (disorder),SNOMEDCT ID:787171006,,,21q22.11q22.12 microdeletion syndrome,MONDO:0016845,,,,,, +BMGC_DS17681,BMG_DS067835,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,UMLS ID:C5192594,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,SNOMEDCT ID:787172004,,,childhood-onset autosomal recessive myopathy with external ophthalmoplegia,MONDO:0018206,,,,,, +BMGC_DS17682,BMG_DS067836,"Intellectual disability, hyperkinetic movement, truncal ataxia syndrome",UMLS ID:C5192595,"Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) | Intellectual disability, hyperkinetic movement, truncal ataxia syndrome",SNOMEDCT ID:787174003,,,intellectual disability-hyperkinetic movement-truncal ataxia syndrome,MONDO:0018243,,,,,, +BMGC_DS17683,BMG_DS067837,"ANK3-related intellectual disability, sleep disturbance syndrome",UMLS ID:C5192596,"Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) | ANK3-related intellectual disability, sleep disturbance syndrome | Ankyrin 3 related intellectual disability, sleep disturbance syndrome",SNOMEDCT ID:787175002,,,,,,,,,, +BMGC_DS17684,BMG_DS067843,Hereditary mixed polyposis syndrome,UMLS ID:C5192681,Hereditary mixed polyposis syndrome | Hereditary mixed polyposis syndrome (disorder) | HMPS - hereditary mixed polyposis syndrome,SNOMEDCT ID:787410005,,,hereditary mixed polyposis syndrome,MONDO:0011023,,,,,, +BMGC_DS17685,BMG_DS067857,DNA2-related mitochondrial DNA deletion syndrome,UMLS ID:C5192959,Mitochondrial DNA deletion syndrome with limb-girdle weakness | Mitochondrial DNA deletion syndrome with progressive myopathy | DNA2-related mitochondrial DNA deletion syndrome | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome | DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder),SNOMEDCT ID:783057002,,,,,,,,,, +BMGC_DS17686,BMG_DS067858,"ARTHROGRYPOSIS, DISTAL, TYPE 2B4",UMLS ID:C5193002,,,,,"arthrogryposis, distal, type 2B4",MONDO:0800200,,,,,,OMIM ID:108120 | OMIM ID:190990 +BMGC_DS17687,BMG_DS067859,CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA,UMLS ID:C5193004,,,,,calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia,MONDO:0800204,,,calvarial doughnut lesions with bone fragility,DOID:0080721,,OMIM ID:126550 | OMIM ID:611574 +BMGC_DS17688,BMG_DS067860,GIST-PLUS SYNDROME,UMLS ID:C5193005,,,,,"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal",MONDO:0008285,,,,,,OMIM ID:173490 | OMIM ID:175510 +BMGC_DS17689,BMG_DS067861,D-LACTIC ACIDURIA WITH GOUT,UMLS ID:C5193006,,,,,lactic aciduria due to D-lactic acid,MONDO:0009505,,,,,,OMIM ID:245450 +BMGC_DS17690,BMG_DS067862,"MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY",UMLS ID:C5193007,,,,,,,,,,,,OMIM ID:251900 +BMGC_DS17691,BMG_DS067863,MULLEGAMA-KLEIN-MARTINEZ SYNDROME,UMLS ID:C5193008,,,,,Mullegama-Klein-Martinez syndrome,MONDO:0026722,,,Mullegama-Klein-Martinez syndrome,DOID:0111845,,OMIM ID:301022 | OMIM ID:300826 +BMGC_DS17692,BMG_DS067864,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108",UMLS ID:C5193009,,,,,"intellectual developmental disorder, X-linked 108",MONDO:0026723,,,X-linked intellectual developmental disorder 108,DOID:0111844,,OMIM ID:300368 | OMIM ID:301024 +BMGC_DS17693,BMG_DS067865,PAGANINI-MIOZZO SYNDROME,UMLS ID:C5193010,,,,,Paganini-Miozzo syndrome,MONDO:0026724,,,Paganini-Miozzo syndrome,DOID:0111843,,OMIM ID:301025 | OMIM ID:300545 +BMGC_DS17694,BMG_DS067866,"NEPHROTIC SYNDROME, TYPE 20",UMLS ID:C5193011,,,,,"nephrotic syndrome, type 20",MONDO:0026726,,,nephrotic syndrome type 20,DOID:0070357,,OMIM ID:301028 | OMIM ID:301027 +BMGC_DS17695,BMG_DS067867,"DEAFNESS, Y-LINKED 2",UMLS ID:C5193013,,,,,"deafness, Y-linked 2",MONDO:0027048,,,Y-linked deafness 2,DOID:0111758,,OMIM ID:400033 | OMIM ID:400047 +BMGC_DS17696,BMG_DS067868,"ARTHROGRYPOSIS, DISTAL, TYPE 2B1",UMLS ID:C5193014,,,,,distal arthrogryposis type 2B1,MONDO:0020820,,,distal arthrogryposis type 2B1,DOID:0111600,,OMIM ID:601680 | OMIM ID:191043 +BMGC_DS17697,BMG_DS067869,CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE,UMLS ID:C5193016,,,,,lethal arthrogryposis-anterior horn cell disease syndrome,MONDO:0012750,,,,,,OMIM ID:611890 | OMIM ID:603371 +BMGC_DS17698,BMG_DS067870,"MICROPHTHALMIA, SYNDROMIC 15",UMLS ID:C5193017,,,,,,,,,,,,OMIM ID:615145 | OMIM ID:610083 +BMGC_DS17699,BMG_DS067871,CONE-ROD DYSTROPHY AND HEARING LOSS 1,UMLS ID:C5193018,,,,,cone-rod dystrophy and hearing loss 1,MONDO:0020778,,,,,,OMIM ID:617110 | OMIM ID:617236 +BMGC_DS17700,BMG_DS067872,WARBURG-CINOTTI SYNDROME,UMLS ID:C5193019,,,,,warburg-cinotti syndrome,MONDO:0032579,,,,,,OMIM ID:191311 | OMIM ID:618175 +BMGC_DS17701,BMG_DS067873,DIAMOND-BLACKFAN ANEMIA 18,UMLS ID:C5193020,,,,,Diamond-Blackfan anemia 18,MONDO:0032668,,,Diamond-Blackfan anemia 18,DOID:0111896,,OMIM ID:604179 | OMIM ID:618310 +BMGC_DS17702,BMG_DS067874,DIAMOND-BLACKFAN ANEMIA 19,UMLS ID:C5193021,,,,,Diamond-Blackfan anemia 19,MONDO:0032669,,,Diamond-Blackfan anemia 19,DOID:0111886,,OMIM ID:618315 | OMIM ID:618312 +BMGC_DS17703,BMG_DS067875,DIAMOND-BLACKFAN ANEMIA 20,UMLS ID:C5193022,,,,,Diamond-Blackfan anemia 20,MONDO:0032670,,,Diamond-Blackfan anemia 20,DOID:0111891,,OMIM ID:618313 | OMIM ID:603674 +BMGC_DS17704,BMG_DS067876,"HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 2",UMLS ID:C5193023,,,,,"hypomagnesemia, seizures, and intellectual disability 2",MONDO:0020788,,,,,,OMIM ID:182310 | OMIM ID:618314 +BMGC_DS17705,BMG_DS067877,"TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome",UMLS ID:C5193024,"Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) | TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome",SNOMEDCT ID:1222708006,,,intellectual developmental disorder with cardiac defects and dysmorphic facies,MONDO:0032672,,,,,,OMIM ID:618316 +BMGC_DS17706,BMG_DS067878,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE",UMLS ID:C5193025,,,,,"basal ganglia calcification, idiopathic, 7, autosomal recessive",MONDO:0032673,,,,,,OMIM ID:618255 | OMIM ID:618317 +BMGC_DS17707,BMG_DS067879,NAD(P)HX dehydratase deficiency,UMLS ID:C5193026,NAD(P)HX dehydratase deficiency (disorder) | NAD(P)HX dehydratase deficiency | CARKD deficiency,SNOMEDCT ID:1251446004,,,NAD(P)HX dehydratase deficiency,MONDO:0034121,,,,,,OMIM ID:618321 +BMGC_DS17708,BMG_DS067880,"MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC",UMLS ID:C5193027,,,,,"myasthenic syndrome, congenital, 25, presynaptic",MONDO:0032675,,,,,,OMIM ID:618323 | OMIM ID:185880 +BMGC_DS17709,BMG_DS067881,CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2,UMLS ID:C5193028,,,,,congenital disorder of glycosylation with defective fucosylation 2,MONDO:0020777,,,,,,OMIM ID:608675 | OMIM ID:618324 +BMGC_DS17710,BMG_DS067882,LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION,UMLS ID:C5193029,,,,,lissencephaly 9 with complex brainstem malformation,MONDO:0032677,,,lissencephaly 9 with complex brainstem malformation,DOID:0112228,,OMIM ID:618325 | OMIM ID:608271 +BMGC_DS17711,BMG_DS067883,Neonatal epileptic encephalopathy due to glutaminase deficiency,UMLS ID:C5193030,Neonatal epileptic encephalopathy due to glutaminase deficiency | Neonatal epileptic encephalopathy due to deficiency of glutaminase | Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder),SNOMEDCT ID:1222662000,,,"developmental and epileptic encephalopathy, 71",MONDO:0032678,,,,,,OMIM ID:618328 +BMGC_DS17712,BMG_DS067884,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37,UMLS ID:C5193031,,,,,combined oxidative phosphorylation deficiency 37,MONDO:0032679,,,combined oxidative phosphorylation deficiency 37,DOID:0111499,,OMIM ID:618329 | OMIM ID:616658 +BMGC_DS17713,BMG_DS067885,GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT,UMLS ID:C5193032,,,,,global developmental delay with or without impaired intellectual development,MONDO:0032680,,,,,,OMIM ID:618330 +BMGC_DS17714,BMG_DS067886,"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS",UMLS ID:C5193033,,,,,"encephalopathy, progressive, early-onset, with episodic rhabdomyolysis",MONDO:0032681,,,,,,OMIM ID:610970 | OMIM ID:618331 +BMGC_DS17715,BMG_DS067887,MENKE-HENNEKAM SYNDROME 1,UMLS ID:C5193034,,,,,Menke-Hennekam syndrome 1,MONDO:0020763,,,,,,OMIM ID:600140 | OMIM ID:618332 +BMGC_DS17716,BMG_DS067888,MENKE-HENNEKAM SYNDROME 2,UMLS ID:C5193035,,,,,Menke-Hennekam syndrome 2,MONDO:0020769,,,,,,OMIM ID:602700 | OMIM ID:618333 +BMGC_DS17717,BMG_DS067889,"INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY",UMLS ID:C5193036,,,,,"intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency",MONDO:0032684,,,,,,OMIM ID:618336 | OMIM ID:174762 +BMGC_DS17718,BMG_DS067890,"INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C5193037,,,,,"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",MONDO:0032685,,,,,,OMIM ID:138280 | OMIM ID:618339 +BMGC_DS17719,BMG_DS067891,SPERMATOGENIC FAILURE 35,UMLS ID:C5193038,,,,,spermatogenic failure 35,MONDO:0032686,,,spermatogenic failure 35,DOID:0111914,,OMIM ID:618304 | OMIM ID:618341 +BMGC_DS17720,BMG_DS067892,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE",UMLS ID:C5193039,,,,,"intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",MONDO:0032687,,,"intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",DOID:0081265,,OMIM ID:616261 | OMIM ID:618342 +BMGC_DS17721,BMG_DS067893,POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME,UMLS ID:C5193040,,,,,polymicrogyria with or without vascular-type Ehlers-Danlos syndrome,MONDO:0032688,,,,,,OMIM ID:618343 +BMGC_DS17722,BMG_DS067894,RETINITIS PIGMENTOSA 85,UMLS ID:C5193041,,,,,retinitis pigmentosa 85,MONDO:0032689,,,retinitis pigmentosa 85,DOID:0112142,,OMIM ID:600253 | OMIM ID:618345 +BMGC_DS17723,BMG_DS067895,"MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS",UMLS ID:C5193042,,,,,"microcephaly, growth deficiency, seizures, and brain malformations",MONDO:0032690,,,"microcephaly, growth deficiency, seizures, and brain malformations",DOID:0081051,,OMIM ID:618346 | OMIM ID:605924 +BMGC_DS17724,BMG_DS067896,GALLOWAY-MOWAT SYNDROME 6,UMLS ID:C5193043,,,,,Galloway-Mowat syndrome 6,MONDO:0032691,,,,,,OMIM ID:618347 | OMIM ID:605924 +BMGC_DS17725,BMG_DS067897,GALLOWAY-MOWAT SYNDROME 7,UMLS ID:C5193044,,,,,Galloway-Mowat syndrome 7,MONDO:0032692,,,,,,OMIM ID:618348 | OMIM ID:607617 +BMGC_DS17726,BMG_DS067898,GALLOWAY-MOWAT SYNDROME 8,UMLS ID:C5193045,,,,,Galloway-Mowat syndrome 8,MONDO:0032693,,,,,,OMIM ID:618349 | OMIM ID:607613 +BMGC_DS17727,BMG_DS067899,"MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C5193046,,,,,"microcephaly 25, primary, autosomal recessive",MONDO:0032694,,,,,,OMIM ID:618350 | OMIM ID:618351 +BMGC_DS17728,BMG_DS067900,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6,UMLS ID:C5193047,,,,,oocyte maturation defect 6,MONDO:0032696,,,,,,OMIM ID:182888 | OMIM ID:618353 +BMGC_DS17729,BMG_DS067901,HOUGE-JANSSENS SYNDROME 3,UMLS ID:C5193048,,,,,Houge-Janssens syndrome 3,MONDO:0032697,,,,,,OMIM ID:176915 | OMIM ID:618354 +BMGC_DS17730,BMG_DS067902,NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION,UMLS ID:C5193049,,,,,neurodevelopmental disorder with central and peripheral motor dysfunction,MONDO:0032698,,,,,,OMIM ID:609145 | OMIM ID:618356 +BMGC_DS17731,BMG_DS067903,,UMLS ID:C5193050,,,,,"epilepsy, idiopathic generalized, susceptibility to, 15",MONDO:0032699,,,,,,OMIM ID:618357 +BMGC_DS17732,BMG_DS067904,CONE-ROD DYSTROPHY AND HEARING LOSS 2,UMLS ID:C5193051,,,,,cone-rod dystrophy and hearing loss 2,MONDO:0020780,,,,,,OMIM ID:609689 | OMIM ID:618358 +BMGC_DS17733,BMG_DS067905,BRAIN SMALL VESSEL DISEASE 3,UMLS ID:C5193053,,,,,brain small vessel disease 3,MONDO:0100105,,,brain small vessel disease 3,DOID:0112315,,OMIM ID:618360 | OMIM ID:617531 +BMGC_DS17734,BMG_DS067906,COFFIN-SIRIS SYNDROME 8,UMLS ID:C5193054,,,,,Coffin-Siris syndrome 8,MONDO:0032702,,,Coffin-Siris syndrome 8,DOID:0112367,,OMIM ID:618362 | OMIM ID:601734 +BMGC_DS17735,BMG_DS067907,"SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS",UMLS ID:C5193055,,,,,"short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis",MONDO:0032703,,,,,,OMIM ID:611459 | OMIM ID:618363 +BMGC_DS17736,BMG_DS067908,"MYOCLONUS, FAMILIAL, 2",UMLS ID:C5193056,,,,,"myoclonus, familial, 2",MONDO:0100092,,,,,,OMIM ID:600702 | OMIM ID:618364 +BMGC_DS17737,BMG_DS067909,"MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome",UMLS ID:C5193057,"MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome | MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome | Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder) | Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome",SNOMEDCT ID:1300128003,,,"neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination",MONDO:0032705,,,,,,OMIM ID:618367 +BMGC_DS17738,BMG_DS067910,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27",UMLS ID:C5193058,,,,,"spinocerebellar ataxia, autosomal recessive 27",MONDO:0032706,,,autosomal recessive spinocerebellar ataxia 27,DOID:0111616,,OMIM ID:618369 | OMIM ID:618128 +BMGC_DS17739,BMG_DS067911,TURNPENNY-FRY SYNDROME,UMLS ID:C5193060,,,,,turnpenny-fry syndrome,MONDO:0032707,,,,,,OMIM ID:618371 | OMIM ID:600346 +BMGC_DS17740,BMG_DS067912,"CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA",UMLS ID:C5193062,,,,,,,,,,,,OMIM ID:607955 | OMIM ID:618373 +BMGC_DS17741,BMG_DS067913,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72,UMLS ID:C5193063,,,,,"developmental and epileptic encephalopathy, 72",MONDO:0032710,,,developmental and epileptic encephalopathy 72,DOID:0112208,,OMIM ID:618374 | OMIM ID:601725 +BMGC_DS17742,BMG_DS067914,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38,UMLS ID:C5193064,,,,,combined oxidative phosphorylation deficiency 38,MONDO:0032712,,,combined oxidative phosphorylation deficiency 38,DOID:0111466,,OMIM ID:611978 | OMIM ID:618378 +BMGC_DS17743,BMG_DS067915,RNF13-related severe early-onset epileptic encephalopathy,UMLS ID:C5193065,Ring finger protein 13-related severe early-onset epileptic encephalopathy | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) | RNF13-related severe early-onset epileptic encephalopathy,SNOMEDCT ID:1222659003,,,"developmental and epileptic encephalopathy, 73",MONDO:0034106,,,,,,OMIM ID:618379 +BMGC_DS17744,BMG_DS067916,"Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome",UMLS ID:C5193066,"FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome | Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) | FHEIG syndrome | Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome",SNOMEDCT ID:1304114004,,,"facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome",MONDO:0032714,,,,,,OMIM ID:618381 +BMGC_DS17745,BMG_DS067917,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69",UMLS ID:C5193067,,,,,"intellectual developmental disorder, autosomal recessive 69",MONDO:0032715,,,autosomal recessive intellectual developmental disorder 69,DOID:0081230,,OMIM ID:618181 | OMIM ID:618383 +BMGC_DS17746,BMG_DS067918,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,UMLS ID:C5193068,Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency | Acute reversible leucoencephalopathy due to SLC13A3 deficiency | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) | Acute reversible leukoencephalopathy due to SLC13A3 deficiency | Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate | Acute reversible leucoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency | Acute reversible leucoencephalopathy with increased urinary alpha-ketoglutarate,SNOMEDCT ID:1340040004,,,"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate",MONDO:0032716,,,,,,OMIM ID:618384 +BMGC_DS17747,BMG_DS067919,"AMELOGENESIS IMPERFECTA, TYPE IIIC",UMLS ID:C5193069,,,,,"amelogenesis imperfecta, type 3C",MONDO:0032717,,,amelogenesis imperfecta type 3C,DOID:0111722,,OMIM ID:618386 | OMIM ID:611211 +BMGC_DS17748,BMG_DS067920,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3",UMLS ID:C5193070,,,,,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3",MONDO:0020770,,,spinocerebellar ataxia with axonal neuropathy type 3,DOID:0070465,,OMIM ID:618387 | OMIM ID:615623 +BMGC_DS17749,BMG_DS067921,"SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE",UMLS ID:C5193071,,,,,"spondyloepiphyseal dysplasia, kondo-fu type",MONDO:0032721,,,spondyloepiphyseal dysplasia Kondo-Fu type,DOID:0112283,,OMIM ID:603355 | OMIM ID:618392 +BMGC_DS17750,BMG_DS067922,IMMUNODEFICIENCY 60 AND AUTOIMMUNITY,UMLS ID:C5193072,,,,,immunodeficiency 60,MONDO:0032723,,,immunodeficiency 60,DOID:0111954,,OMIM ID:605394 | OMIM ID:618394 +BMGC_DS17751,BMG_DS067923,"Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type",UMLS ID:C5193073,"Spondyloepimetaphyseal dysplasia with joint laxity type 3 | Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) | Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type | SEMDJL3 - spondyloepimetaphyseal dysplasia with joint laxity type 3 | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type",SNOMEDCT ID:1286834000,,,"spondyloepimetaphyseal dysplasia with joint laxity, type 3",MONDO:0032724,,,,,,OMIM ID:618395 +BMGC_DS17752,BMG_DS067924,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74,UMLS ID:C5193074,,,,,"developmental and epileptic encephalopathy, 74",MONDO:0032725,,,developmental and epileptic encephalopathy 74,DOID:0112210,,OMIM ID:618396 | OMIM ID:137164 +BMGC_DS17753,BMG_DS067925,Combined oxidative phosphorylation defect type 39,UMLS ID:C5193075,Combined oxidative phosphorylation defect type 39 | Combined oxidative phosphorylation defect type 39 (disorder) | COXPD39 - combined oxidative phosphorylation defect type 39 | GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect | GFM2-related combined oxidative phosphorylation defect,SNOMEDCT ID:1279845005,,,combined oxidative phosphorylation deficiency 39,MONDO:0032726,,,,,,OMIM ID:618397 +BMGC_DS17754,BMG_DS067926,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE",UMLS ID:C5193076,,,,,"Charcot-Marie-Tooth disease, axonal, type 2EE",MONDO:0032728,,,Charcot-Marie-Tooth disease type 2EE,DOID:0111559,,OMIM ID:137960 | OMIM ID:618400 +BMGC_DS17755,BMG_DS067927,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70",UMLS ID:C5193077,,,,,"intellectual developmental disorder, autosomal recessive 70",MONDO:0032729,,,autosomal recessive intellectual developmental disorder 70,DOID:0081231,,OMIM ID:618402 | OMIM ID:613352 +BMGC_DS17756,BMG_DS067928,"LEUKODYSTROPHY, HYPOMYELINATING, 18",UMLS ID:C5193078,,,,,"leukodystrophy, hypomyelinating, 18",MONDO:0032730,,,hypomyelinating leukodystrophy 18,DOID:0070399,,OMIM ID:615843 | OMIM ID:618404 +BMGC_DS17757,BMG_DS067929,"DEAFNESS, AUTOSOMAL RECESSIVE 113",UMLS ID:C5193079,,,,,"hearing loss, autosomal recessive 113",MONDO:0032732,,,autosomal recessive nonsyndromic deafness 113,DOID:0111636,,OMIM ID:618410 | OMIM ID:614591 +BMGC_DS17758,BMG_DS067930,"GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE",UMLS ID:C5193080,,,,,"global developmental delay, progressive ataxia, and elevated glutamine",MONDO:0032733,,,,,,OMIM ID:618412 | OMIM ID:138280 +BMGC_DS17759,BMG_DS067931,Congenital myopathy with reduced type 2 muscle fibers,UMLS ID:C5193081,Congenital myopathy with reduced type II muscle fibres | Congenital myopathy with type 2 muscle fibre atrophy | Congenital myopathy with type II fiber atrophy | Congenital myopathy with reduced type II muscle fibers | Congenital myopathy with fast-twitch fiber atrophy | Congenital myopathy with fast-twitch fibre atrophy | Congenital myopathy with reduced type 2 muscle fibers | Congenital myopathy with type II fibre atrophy | Congenital myopathy with reduced type 2 muscle fibers (disorder) | Congenital myopathy with reduced type 2 muscle fibres | Congenital myopathy with type 2 muscle fiber atrophy,SNOMEDCT ID:1255274002,,,congenital myopathy with reduced type 2 muscle fibers,MONDO:0034109,,,,,,OMIM ID:618414 +BMGC_DS17760,BMG_DS067932,CATARACT 48,UMLS ID:C5193082,,,,,cataract 48,MONDO:0032735,,,cataract 48,DOID:0070354,,OMIM ID:618415 | OMIM ID:611282 +BMGC_DS17761,BMG_DS067933,"METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION",UMLS ID:C5193083,,,,,"metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression",MONDO:0032736,,,,,,OMIM ID:610823 | OMIM ID:618416 +BMGC_DS17762,BMG_DS067934,"SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT",UMLS ID:C5193084,,,,,"spastic paraplegia 80, autosomal dominant",MONDO:0032737,,,hereditary spastic paraplegia 80,DOID:0112341,,OMIM ID:609787 | OMIM ID:618418 +BMGC_DS17763,BMG_DS067935,MYOECTODERMAL GONADAL DYSGENESIS SYNDROME,UMLS ID:C5193085,,,,,"gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy",MONDO:0032738,,,,,,OMIM ID:618419 | OMIM ID:600908 | OMIM ID:615902 | OMIM ID:618419 +BMGC_DS17764,BMG_DS067936,SPERMATOGENIC FAILURE 36,UMLS ID:C5193086,,,,,spermatogenic failure 36,MONDO:0032739,,,spermatogenic failure 36,DOID:0111921,,OMIM ID:618420 | OMIM ID:615902 +BMGC_DS17765,BMG_DS067937,"DEAFNESS, AUTOSOMAL RECESSIVE 100",UMLS ID:C5193087,,,,,"hearing loss, autosomal recessive 100",MONDO:0032740,,,autosomal recessive nonsyndromic deafness 100,DOID:0111638,,OMIM ID:611648 | OMIM ID:618422 +BMGC_DS17766,BMG_DS067938,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS,UMLS ID:C5193088,,,,,neurodevelopmental disorder with impaired speech and hyperkinetic movements,MONDO:0032741,,,,,,OMIM ID:604083 | OMIM ID:618425 +BMGC_DS17767,BMG_DS067939,,UMLS ID:C5193089,,,,,"encephalopathy, acute, infection-induced, susceptibility to, 9",MONDO:0032742,,,,,,OMIM ID:618426 +BMGC_DS17768,BMG_DS067940,SPERMATOGENIC FAILURE 37,UMLS ID:C5193091,,,,,spermatogenic failure 37,MONDO:0032744,,,spermatogenic failure 37,DOID:0111927,,OMIM ID:611430 | OMIM ID:618429 +BMGC_DS17769,BMG_DS067941,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5193092,,,,,developmental delay with variable intellectual impairment and behavioral abnormalities,MONDO:0032745,,,,,,OMIM ID:618430 | OMIM ID:603107 +BMGC_DS17770,BMG_DS067942,"HYDATIDIFORM MOLE, RECURRENT, 3",UMLS ID:C5193093,,,,,"hydatidiform mole, recurrent, 3",MONDO:0032746,,,,,,OMIM ID:608797 | OMIM ID:618431 +BMGC_DS17771,BMG_DS067943,"HYDATIDIFORM MOLE, RECURRENT, 4",UMLS ID:C5193094,,,,,"hydatidiform mole, recurrent, 4",MONDO:0032747,,,,,,OMIM ID:616109 | OMIM ID:618432 +BMGC_DS17772,BMG_DS067944,SPERMATOGENIC FAILURE 38,UMLS ID:C5193095,,,,,spermatogenic failure 38,MONDO:0032748,,,spermatogenic failure 38,DOID:0111919,,OMIM ID:618424 | OMIM ID:618433 +BMGC_DS17773,BMG_DS067945,"DEAFNESS, AUTOSOMAL RECESSIVE 94",UMLS ID:C5193096,,,,,"hearing loss, autosomal recessive 94",MONDO:0032749,,,autosomal recessive nonsyndromic deafness 94,DOID:0111641,,OMIM ID:612803 | OMIM ID:618434 +BMGC_DS17774,BMG_DS067946,"ARTHROGRYPOSIS, DISTAL, TYPE 2B2",UMLS ID:C5193097,,,,,"arthrogryposis, distal, type 2B2",MONDO:0032750,,,distal arthrogryposis type 2B2,DOID:0111601,,OMIM ID:618435 | OMIM ID:600692 +BMGC_DS17775,BMG_DS067947,"ARTHROGRYPOSIS, DISTAL, TYPE 2B3",UMLS ID:C5193098,,,,,"arthrogryposis, distal, type 2B3",MONDO:0032751,,,distal arthrogryposis type 2B3,DOID:0111602,,OMIM ID:618436 | OMIM ID:160720 +BMGC_DS17776,BMG_DS067948,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75,UMLS ID:C5193099,,,,,"developmental and epileptic encephalopathy, 75",MONDO:0032752,,,developmental and epileptic encephalopathy 75,DOID:0112211,,OMIM ID:612036 | OMIM ID:618437 +BMGC_DS17777,BMG_DS067949,"SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE",UMLS ID:C5193100,,,,,"spastic ataxia 9, autosomal recessive",MONDO:0032753,,,,,,OMIM ID:606988 | OMIM ID:618438 +BMGC_DS17778,BMG_DS067950,Oculocerebrodental syndrome,UMLS ID:C5193101,Oculocerebrodental syndrome | Oculocerebrodental syndrome (disorder) | Oculo-cerebro-dental syndrome,SNOMEDCT ID:1255268002,,,oculocerebrodental syndrome,MONDO:0034145,,,,,,OMIM ID:618440 +BMGC_DS17779,BMG_DS067951,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES,UMLS ID:C5193102,,,,,neurodevelopmental disorder with or without variable brain abnormalities; NEDBA,MONDO:0032755,,,,,,OMIM ID:618443 +BMGC_DS17780,BMG_DS067952,"CILIARY DYSKINESIA, PRIMARY, 41",UMLS ID:C5193103,,,,,"ciliary dyskinesia, primary, 41",MONDO:0032757,,,primary ciliary dyskinesia 41,DOID:0111858,,OMIM ID:618449 | OMIM ID:611398 +BMGC_DS17781,BMG_DS067953,"NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA",UMLS ID:C5193104,,,,,"neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia",MONDO:0032758,,,,,,OMIM ID:618451 +BMGC_DS17782,BMG_DS067954,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES,UMLS ID:C5193105,,,,,intellectual developmental disorder with short stature and variable skeletal anomalies,MONDO:0032759,,,,,,OMIM ID:609225 | OMIM ID:618453 +BMGC_DS17783,BMG_DS067955,DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM,UMLS ID:C5193106,,,,,developmental delay with or without dysmorphic facies and autism,MONDO:0032760,,,,,,OMIM ID:618454 +BMGC_DS17784,BMG_DS067956,"DEAFNESS, AUTOSOMAL RECESSIVE 114",UMLS ID:C5193107,,,,,"hearing loss, autosomal recessive 114",MONDO:0032761,,,autosomal recessive nonsyndromic deafness 114,DOID:0111642,,OMIM ID:618456 | OMIM ID:604330 +BMGC_DS17785,BMG_DS067957,"DEAFNESS, AUTOSOMAL RECESSIVE 115",UMLS ID:C5193108,,,,,"hearing loss, autosomal recessive 115",MONDO:0032762,,,autosomal recessive nonsyndromic deafness 115,DOID:0111643,,OMIM ID:612584 | OMIM ID:618457 +BMGC_DS17786,BMG_DS067958,IMMUNODEFICIENCY 62,UMLS ID:C5193109,,,,,immunodeficiency 62,MONDO:0032763,,,immunodeficiency 62,DOID:0111991,,OMIM ID:601855 | OMIM ID:618459 +BMGC_DS17787,BMG_DS067959,KHAN-KHAN-KATSANIS SYNDROME,UMLS ID:C5193110,,,,,Khan-Khan-Katsanis syndrome,MONDO:0032764,,,,,,OMIM ID:608532 | OMIM ID:618460 +BMGC_DS17788,BMG_DS067960,"BLEEDING DISORDER, PLATELET-TYPE, 22",UMLS ID:C5193111,,,,,"bleeding disorder, platelet-type, 22",MONDO:0032765,,,,,,OMIM ID:600997 | OMIM ID:618462 +BMGC_DS17789,BMG_DS067961,PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6,UMLS ID:C5193112,,,,,paragangliomas 6,MONDO:0032767,,,,,,OMIM ID:618464 +BMGC_DS17790,BMG_DS067962,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76,UMLS ID:C5193113,,,,,"developmental and epileptic encephalopathy, 76",MONDO:0032768,,,developmental and epileptic encephalopathy 76,DOID:0112212,,OMIM ID:618468 +BMGC_DS17791,BMG_DS067963,"CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B",UMLS ID:C5193114,,,,,"contractures, pterygia, and variable skeletal fusions syndrome 1B",MONDO:0020746,,,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B",DOID:0081322,,OMIM ID:160720 | OMIM ID:618469 +BMGC_DS17792,BMG_DS067964,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS,UMLS ID:C5193115,,,,,intellectual developmental disorder with severe speech and ambulation defects,MONDO:0032770,,,,,,OMIM ID:612458 | OMIM ID:618470 +BMGC_DS17793,BMG_DS067965,PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7,UMLS ID:C5193116,,,,,paragangliomas 7,MONDO:0032771,,,,,,OMIM ID:126063 | OMIM ID:618475 +BMGC_DS17794,BMG_DS067966,"BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS",UMLS ID:C5193117,,,,,"brain abnormalities, neurodegeneration, and dysosteosclerosis",MONDO:0032772,,,,,,OMIM ID:618476 | OMIM ID:164770 +BMGC_DS17795,BMG_DS067967,"CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME",UMLS ID:C5193118,,,,,"cerebellar, ocular, craniofacial, and genital syndrome",MONDO:0032774,,,,,,OMIM ID:601280 | OMIM ID:618479 +BMGC_DS17796,BMG_DS067968,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT,UMLS ID:C5193119,,,,,neurodevelopmental disorder with seizures and speech and walking impairment,MONDO:0032775,,,,,,OMIM ID:600944 | OMIM ID:618480 +BMGC_DS17797,BMG_DS067969,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10",UMLS ID:C5193120,,,,,"generalized epilepsy with febrile seizures plus, type 10",MONDO:0032777,,,generalized epilepsy with febrile seizures plus 10,DOID:0111296,,OMIM ID:602780 | OMIM ID:618482 +BMGC_DS17798,BMG_DS067970,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE",UMLS ID:C5193121,,,,,"arthrogryposis multiplex congenita 3, myogenic type",MONDO:0032778,,,arthrogryposis multiplex congenita-3,DOID:0080979,,OMIM ID:618484 | OMIM ID:608441 +BMGC_DS17799,BMG_DS067971,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES,UMLS ID:C5193123,,,,,neurodevelopmental disorder with microcephaly and structural brain anomalies,MONDO:0032779,,,,,,OMIM ID:618492 | OMIM ID:603331 +BMGC_DS17800,BMG_DS067972,"HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES",UMLS ID:C5193124,,,,,"hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities",MONDO:0032780,,,,,,OMIM ID:618493 +BMGC_DS17801,BMG_DS067973,"CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES",UMLS ID:C5193125,,,,,"congenital hypotonia, epilepsy, developmental delay, and digital anomalies",MONDO:0032781,,,,,,OMIM ID:618494 | OMIM ID:607462 +BMGC_DS17802,BMG_DS067974,IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY,UMLS ID:C5193126,,,,,immunodeficiency 63 with lymphoproliferation and autoimmunity,MONDO:0032782,,,immunodeficiency 63,DOID:0111997,,OMIM ID:146710 | OMIM ID:618495 +BMGC_DS17803,BMG_DS067975,AORTIC VALVE DISEASE 3,UMLS ID:C5193127,,,,,aortic valve disease 3,MONDO:0032783,,,aortic valve disease 3,DOID:0080977,,OMIM ID:607528 | OMIM ID:618496 +BMGC_DS17804,BMG_DS067976,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS,UMLS ID:C5193128,,,,,neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements,MONDO:0032784,,,,,,OMIM ID:601012 | OMIM ID:618497 +BMGC_DS17805,BMG_DS067977,"POLYDACTYLY, POSTAXIAL, TYPE A10",UMLS ID:C5193129,,,,,"polydactyly, postaxial, type a10",MONDO:0032785,,,,,,OMIM ID:617266 | OMIM ID:618498 +BMGC_DS17806,BMG_DS067978,NOONAN SYNDROME 11,UMLS ID:C5193130,,,,,Noonan syndrome 11,MONDO:0032786,,,Noonan syndrome 11,DOID:0112169,,OMIM ID:618499 | OMIM ID:608435 +BMGC_DS17807,BMG_DS067979,HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS,UMLS ID:C5193131,,,,,holoprosencephaly 12 with or without pancreatic agenesis,MONDO:0032787,,,holoprosencephaly 12,DOID:0081398,,OMIM ID:618500 | OMIM ID:604917 +BMGC_DS17808,BMG_DS067980,CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY,UMLS ID:C5193132,,,,,cerebellar atrophy with seizures and variable developmental delay,MONDO:0032788,,,,,,OMIM ID:607082 | OMIM ID:618501 +BMGC_DS17809,BMG_DS067981,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71",UMLS ID:C5193133,,,,,"intellectual developmental disorder, autosomal recessive 71",MONDO:0032789,,,autosomal recessive intellectual developmental disorder 71,DOID:0081232,,OMIM ID:613306 | OMIM ID:618504 +BMGC_DS17810,BMG_DS067982,STOLERMAN NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5193134,,,,,neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities,MONDO:0032790,,,Stolerman neurodevelopmental syndrome,DOID:0081443,,OMIM ID:618505 | OMIM ID:611577 +BMGC_DS17811,BMG_DS067983,"NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY",UMLS ID:C5193137,,,,,"neuropathy, hereditary motor and sensory, type VIc, with optic atrophy",MONDO:0032792,,,,,,OMIM ID:618511 | OMIM ID:179020 +BMGC_DS17812,BMG_DS067984,O'Donnell-Luria-Rodan syndrome,UMLS ID:C5193138,,,,,O'Donnell-Luria-Rodan syndrome,MONDO:0032793,,MeSH ID:C000730747,,,,OMIM ID:618512 +BMGC_DS17813,BMG_DS067985,LEBER CONGENITAL AMAUROSIS 19,UMLS ID:C5193139,,,,,leber congenital amaurosis 19,MONDO:0032794,,,Leber congenital amaurosis 19,DOID:0081169,,OMIM ID:618513 | OMIM ID:618439 +BMGC_DS17814,BMG_DS067986,"HYPER-IgE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS",UMLS ID:C5193141,,,,,"hyper-IgE recurrent infection syndrome 4, autosomal recessive",MONDO:0032796,,,hyper IgE recurrent infection syndrome 4,DOID:0080596,,OMIM ID:600694 | OMIM ID:618523 +BMGC_DS17815,BMG_DS067987,MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE),UMLS ID:C5193142,,,,,mitochondrial DNA depletion syndrome 16 (hepatic type),MONDO:0032799,,,mitochondrial DNA depletion syndrome 16,DOID:0070446,,OMIM ID:618528 +BMGC_DS17816,BMG_DS067988,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2",UMLS ID:C5193143,,,,,"robinow syndrome, autosomal recessive 2",MONDO:0032800,,,autosomal recessive Robinow syndrome 2,DOID:0060974,,OMIM ID:618529 | OMIM ID:612895 +BMGC_DS17817,BMG_DS067989,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6,UMLS ID:C5193144,,,,,erythrokeratodermia variabilis et progressiva 6,MONDO:0032801,,,erythrokeratodermia variabilis et progressiva 6,DOID:0080766,,OMIM ID:618531 | OMIM ID:606936 +BMGC_DS17818,BMG_DS067990,"ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE",UMLS ID:C5193145,,,,,"ectodermal dysplasia 15, hypohidrotic/hair type",MONDO:0032804,,,ectodermal dysplasia 15,DOID:0111651,,OMIM ID:601891 | OMIM ID:618535 +BMGC_DS17819,BMG_DS067991,SHUKLA-VERNON SYNDROME,UMLS ID:C5193146,,,,,Shukla-Vernon syndrome,MONDO:0026727,,,Shukla-Vernon syndrome,DOID:0111841,,OMIM ID:300688 | OMIM ID:301029 +BMGC_DS17820,BMG_DS067992,"ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES",UMLS ID:C5193147,,,,,"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features",MONDO:0032798,,,,,,OMIM ID:618527 | OMIM ID:611813 +BMGC_DS17821,BMG_DS067993,MICROPHTHALMIA AND/OR COLOBOMA WITH DEVELOPMENTAL DELAY,UMLS ID:C5193150,,,,,,,,,,,,OMIM ID:615145 +BMGC_DS17822,BMG_DS068002,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59",UMLS ID:C5193190,,,,,intellectual developmental disorder 59,MONDO:0032795,,,,,,OMIM ID:618522 | OMIM ID:602123 +BMGC_DS17823,BMG_DS068011,"MITOCHONDRIAL MYOPATHY, EPISODIC, WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY",UMLS ID:C5193222,,,,,,,,,,,,OMIM ID:614585 +BMGC_DS17824,BMG_DS068012,"MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY",UMLS ID:C5193223,,,,,"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy",MONDO:0020714,,,,,,OMIM ID:251900 | OMIM ID:614585 +BMGC_DS17825,BMG_DS068016,"HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHISM",UMLS ID:C5193233,,,,,"hydrops fetalis, nonimmune, with gracile bones and dysmorphic features",MONDO:0013149,,,,,,OMIM ID:613124 +BMGC_DS17826,BMG_DS068021,Microcytic anemia,UMLS ID:C5194182,(Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Anemia - iron defic. | Iron deficiency anemia | Iron deficiency anemias | Microcytic anemia | Kelly-Paterson syndrome | Plummer-Vinson syndrome | Plummer-Vinson syndr. | Kelly-Paterson synd. | Iron deficiency anaemias | Iron deficiency anaemia | Microcytic anaemia | Anaemia - iron defic. | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder) | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | (Anemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) | Kelly-Paterson syndrome | Plummer-Vinson syndrome | Plummer-Vinson syndr. | Kelly-Paterson synd. | Anemia - iron defic. | Microcytic anemia | Iron deficiency anemias | Iron deficiency anemia | Microcytic anaemia | Iron deficiency anaemias | Anaemia - iron defic. | Iron deficiency anaemia | (Anaemia: [iron deficiency] or [microcytic]) or (Kelly-Paterson syndrome) or (Plummer-Vinson syndrome) (disorder) | Microcytic anemia | Microcytic anaemia | Microcytic anemia (disorder),SNOMEDCT ID:267553005 | SNOMEDCT ID:154787005 | SNOMEDCT ID:234349007,,,microcytic anemia,MONDO:0001245,,,,,,OMIM ID:MTHU006439 +BMGC_DS17827,BMG_DS068044,X-Linked Familial Exudative Vitreoretinopathy,UMLS ID:C5197731,,,,,,,Familial Exudative Vitreoretinopathies,MeSH ID:D000080345,,,, +BMGC_DS17828,BMG_DS068047,Inherited Immunodeficiency Diseases,UMLS ID:C5197805,,,,,,,Primary Immunodeficiency Diseases,MeSH ID:D000081207,,,, +BMGC_DS17829,BMG_DS068050,Evaporative Dry Eye Disease,UMLS ID:C5197850,,,,,,,Dry Eye Syndromes,MeSH ID:D015352,,,, +BMGC_DS17830,BMG_DS068054,Adenylosuccinate lyase deficiency type 4,UMLS ID:C5200299,,,,,,,,MeSH ID:C538235,,,, +BMGC_DS17831,BMG_DS068055,Adenylosuccinate lyase deficiency type 3,UMLS ID:C5200300,,,,,,,,MeSH ID:C538235,,,, +BMGC_DS17832,BMG_DS068056,Adenylosuccinate lyase deficiency type 2,UMLS ID:C5200301,,,,,,,,MeSH ID:C538235,,,, +BMGC_DS17833,BMG_DS068057,Adenylosuccinate lyase deficiency type 1,UMLS ID:C5200302,,,,,,,,MeSH ID:C538235,,,, +BMGC_DS17834,BMG_DS068058,Autosomal dominant Robinow syndrome,UMLS ID:C5200540,Autosomal dominant Robinow syndrome (disorder) | Autosomal dominant Robinow syndrome,SNOMEDCT ID:890233009,,,autosomal dominant Robinow syndrome,MONDO:0008389,,,,,, +BMGC_DS17835,BMG_DS068065,Pes Anserine Bursitis,UMLS ID:C5200782,,,,,,,Bursitis,MeSH ID:D002062,,,, +BMGC_DS17836,BMG_DS068069,"SHORT SLEEP, FAMILIAL NATURAL, 1",UMLS ID:C5200932,,,,,,,,,,,,OMIM ID:606200 | OMIM ID:612975 +BMGC_DS17837,BMG_DS068070,Giant Axonal Neuropathy,UMLS ID:C5200933,,,,,giant axonal neuropathy,MONDO:0000128,Giant Axonal Neuropathy,MeSH ID:D056768,giant axonal neuropathy 1,DOID:0090068,, +BMGC_DS17838,BMG_DS068071,,UMLS ID:C5200934,,,,,macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,MONDO:0015912,,,,,,OMIM ID:155100 | OMIM ID:153640 | OMIM ID:605249 | OMIM ID:600208 +BMGC_DS17839,BMG_DS068078,Complete achromatopsia,UMLS ID:C5201048,Complete achromatopsia | Complete color blindness | Complete colour blindness | Complete achromatopsia (disorder) | Total colour blindness | Rod monochromatism | Total color blindness,SNOMEDCT ID:789675009,,,,,,,,,,OMIM ID:MTHU013744 +BMGC_DS17840,BMG_DS068080,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1,UMLS ID:C5201145,,,,,hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,MONDO:0012465,,,,,,OMIM ID:610273 | OMIM ID:610293 +BMGC_DS17841,BMG_DS068081,Blau syndrome,UMLS ID:C5201146,Blau syndrome | Blau syndrome (disorder),SNOMEDCT ID:818950005,,,Blau syndrome,MONDO:0008523,,,,,ICD10 ID:M04.8,OMIM ID:186580 | OMIM ID:609464 +BMGC_DS17842,BMG_DS068084,"HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT",UMLS ID:C5203300,,,,,"hypopigmentation, organomegaly, and delayed myelination and development",MONDO:0032805,,,,,,OMIM ID:618541 | OMIM ID:602727 +BMGC_DS17843,BMG_DS068085,"MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT",UMLS ID:C5203349,,,,,"myopathy, distal, 6, adult-onset, autosomal dominant",MONDO:0032853,,,,,,OMIM ID:102573 | OMIM ID:618655 +BMGC_DS17844,BMG_DS068086,"ROTHMUND-THOMSON SYNDROME, TYPE 2",UMLS ID:C5203410,,,,,Rothmund-Thomson syndrome type 2,MONDO:0016369,,,,,,OMIM ID:268400 | OMIM ID:603780 +BMGC_DS17845,BMG_DS068087,"NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT",UMLS ID:C5203411,,,,,"neutropenia, severe congenital, 8, autosomal dominant",MONDO:0032899,,,severe congenital neutropenia 8,DOID:0112135,,OMIM ID:604857 | OMIM ID:618752 +BMGC_DS17846,BMG_DS068088,COVID-19 Virus Disease,UMLS ID:C5203670,,,,,COVID-19,MONDO:0100096,COVID-19,MeSH ID:D000086382,COVID-19,DOID:0080600,, +BMGC_DS17847,BMG_DS068089,Focal facial dermal dysplasia type III,UMLS ID:C5203693,Setleis syndrome | Focal facial dermal dysplasia 3 Setleis type | Focal facial dermal dysplasia type III | Focal facial dermal dysplasia type III (disorder) | FFDD type 3 - focal facial dermal dysplasia type 3,SNOMEDCT ID:789160000,,,,,,,,,, +BMGC_DS17848,BMG_DS068188,"Blepharophimosis, intellectual disability syndrome",UMLS ID:C5229849,"Blepharophimosis, intellectual disability syndrome (disorder) | Blepharophimosis, intellectual disability syndrome",SNOMEDCT ID:788584007,,,blepharophimosis - intellectual disability syndrome,MONDO:0017393,,,,,, +BMGC_DS17849,BMG_DS068269,"Primary hyperaldosteronism, seizures, neurological abnormalities syndrome",UMLS ID:C5230308,"Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) | Primary hyperaldosteronism, seizures, neurological abnormalities syndrome",SNOMEDCT ID:789063000,,,,,,,,,, +BMGC_DS17850,BMG_DS068303,ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis,UMLS ID:C5230619,"ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis | Juvenile parkinsonism, neuronal ceroid lipofuscinosis | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) | CLN12 disease",SNOMEDCT ID:789657008,,,,,,,,,, +BMGC_DS17851,BMG_DS068334,Trichorhinophalangeal syndrome type 1 and 3,UMLS ID:C5231006,Trichorhinophalangeal syndrome type 1 and 3 | Trichorhinophalangeal syndrome type 1 and 3 (disorder) | Trichorhinophalangeal syndrome type I and III,SNOMEDCT ID:818959006,,,,,,,,,, +BMGC_DS17852,BMG_DS068336,,UMLS ID:C5231010,,,,,posterior hypospadias,MONDO:0019848,,,,,, +BMGC_DS17853,BMG_DS068339,Generalized glucocorticoid resistance syndrome,UMLS ID:C5231034,Generalized glucocorticoid resistance syndrome (disorder) | Generalized glucocorticoid resistance syndrome | Generalised glucocorticoid resistance syndrome,SNOMEDCT ID:819950002,,,,,,,,,, +BMGC_DS17854,BMG_DS068347,Palsy of glossopharyngeal nerve,UMLS ID:C5231192,Palsy of glossopharyngeal nerve | Palsy of glossopharyngeal nerve (disorder) | Ninth cranial nerve palsy,SNOMEDCT ID:827050005,,,glossopharyngeal nerve paralysis,MONDO:0002781,,,glossopharyngeal nerve paralysis,DOID:3816,, +BMGC_DS17855,BMG_DS068349,Autosomal dominant progressive external ophthalmoplegia,UMLS ID:C5231255,Autosomal dominant progressive external ophthalmoplegia (disorder) | Autosomal dominant progressive external ophthalmoplegia | adPEO - autosomal dominant progressive external ophthalmoplegia,SNOMEDCT ID:827115000,,,autosomal dominant progressive external ophthalmoplegia,MONDO:0008003,,,,,, +BMGC_DS17856,BMG_DS068351,X-linked progressive cerebellar ataxia,UMLS ID:C5231313,X-linked progressive cerebellar ataxia | X-linked progressive cerebellar ataxia (disorder),SNOMEDCT ID:827172005,,,,,,,,,, +BMGC_DS17857,BMG_DS068353,OCULOPHARYNGODISTAL MYOPATHY 1,UMLS ID:C5231388,,,,,oculopharyngodistal myopathy 1,MONDO:0020793,,,oculopharyngodistal myopathy 1,DOID:0081297,,OMIM ID:164310 | OMIM ID:618299 +BMGC_DS17858,BMG_DS068354,"BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT",UMLS ID:C5231389,,,,,"urinary bladder, atony of",MONDO:0008630,,,,,,OMIM ID:118503 | OMIM ID:191800 +BMGC_DS17859,BMG_DS068355,"CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY",UMLS ID:C5231391,,,,,isolated cerebellar hypoplasia/agenesis,MONDO:0008939,,,"cerebellar hyplasia/atrophy, epilepsy, and global developmental delay",DOID:0070339,,OMIM ID:605609 | OMIM ID:213000 +BMGC_DS17860,BMG_DS068356,"HYDROCEPHALUS, NORMAL-PRESSURE, 1",UMLS ID:C5231392,,,,,,,,,,,,OMIM ID:236690 +BMGC_DS17861,BMG_DS068357,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc",UMLS ID:C5231393,,,,,"congenital disorder of glycosylation, type ICC",MONDO:0026729,,,congenital disorder of glycosylation Icc,DOID:0111839,,OMIM ID:300715 | OMIM ID:301031 +BMGC_DS17862,BMG_DS068358,BASILICATA-AKHTAR SYNDROME,UMLS ID:C5231394,,,,,Basilicata-Akhtar syndrome,MONDO:0026730,,,Basilicata-Akhtar syndrome,DOID:0111838,,OMIM ID:300609 | OMIM ID:301032 +BMGC_DS17863,BMG_DS068359,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8",UMLS ID:C5231395,,,,,"hypothyroidism, congenital, nongoitrous, 8",MONDO:0026731,,,congenital nongoitrous hypothyroidism 8,DOID:0111837,,OMIM ID:301033 | OMIM ID:300196 +BMGC_DS17864,BMG_DS068360,"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9",UMLS ID:C5231396,,,,,"hypothyroidism, congenital, nongoitrous, 9",MONDO:0026732,,,congenital nongoitrous hypothyroidism 9,DOID:0111835,,OMIM ID:301035 | OMIM ID:300904 +BMGC_DS17865,BMG_DS068361,"CHOLESTASIS, LOW GGT, ACUTE LIVER FAILURE, AND NEURODEGENERATION SYNDROME",UMLS ID:C5231399,,,,,,,,,autosomal recessive spinocerebellar ataxia 21,DOID:0111155,,OMIM ID:607982 | OMIM ID:616719 +BMGC_DS17866,BMG_DS068362,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61",UMLS ID:C5231400,,,,,intellectual developmental disorder 61,MONDO:0032485,,,,,,OMIM ID:603808 | OMIM ID:618009 +BMGC_DS17867,BMG_DS068363,CONGENITAL MYOPATHY 16,UMLS ID:C5231401,,,,,"myopathy, congenital, with tremor",MONDO:0032797,,,congenital myopathy 16,DOID:0081348,,OMIM ID:160794 | OMIM ID:618524 +BMGC_DS17868,BMG_DS068364,IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION,UMLS ID:C5231402,,,,,immunodeficiency 64,MONDO:0032803,,,immunodeficiency 64,DOID:0111980,,OMIM ID:618534 | OMIM ID:603962 +BMGC_DS17869,BMG_DS068365,"TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE",UMLS ID:C5231403,,,,,"trichothiodystrophy 7, nonphotosensitive",MONDO:0032806,,,nonphotosensitive trichothiodystrophy 7,DOID:0111870,,OMIM ID:187790 | OMIM ID:618546 +BMGC_DS17870,BMG_DS068366,NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES,UMLS ID:C5231404,,,,,neurodevelopmental disorder with visual defects and brain anomalies,MONDO:0032807,,,,,,OMIM ID:618547 | OMIM ID:142600 +BMGC_DS17871,BMG_DS068367,MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4,UMLS ID:C5231405,,,,,"developmental and epileptic encephalopathy, 77",MONDO:0032808,,,multiple congenital anomalies-hypotonia-seizures syndrome 4,DOID:0112213,,OMIM ID:618548 | OMIM ID:605754 +BMGC_DS17872,BMG_DS068368,,UMLS ID:C5231406,,,,,"hepatitis, fulminant viral, susceptibility to",MONDO:0032809,,,,,,OMIM ID:618549 +BMGC_DS17873,BMG_DS068369,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7,UMLS ID:C5231407,,,,,oocyte maturation defect 7,MONDO:0032810,,,,,,OMIM ID:608420 | OMIM ID:618550 +BMGC_DS17874,BMG_DS068370,"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I",UMLS ID:C5231408,,,,,"night blindness, congenital stationary, type1i",MONDO:0032811,,,,,,OMIM ID:618555 +BMGC_DS17875,BMG_DS068371,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78,UMLS ID:C5231409,,,,,"developmental and epileptic encephalopathy, 78",MONDO:0032812,,,developmental and epileptic encephalopathy 78,DOID:0112214,,OMIM ID:137140 | OMIM ID:618557 +BMGC_DS17876,BMG_DS068372,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79,UMLS ID:C5231410,,,,,"developmental and epileptic encephalopathy, 79",MONDO:0032813,,,developmental and epileptic encephalopathy 79,DOID:0112215,,OMIM ID:137142 | OMIM ID:618559 +BMGC_DS17877,BMG_DS068373,Pontine autosomal dominant microangiopathy with leukoencephalopathy,UMLS ID:C5231411,Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) | Pontine autosomal dominant microangiopathy with leukoencephalopathy | Pontine autosomal dominant microangiopathy with leucoencephalopathy | PADMAL - pontine autosomal dominant microangiopathy with leukoencephalopathy | PADMAL - pontine autosomal dominant microangiopathy with leucoencephalopathy,SNOMEDCT ID:1173997008,,,"microangiopathy and leukoencephalopathy, pontine, autosomal dominant",MONDO:0032814,,,,,,OMIM ID:618564 +BMGC_DS17878,BMG_DS068374,MITOCHONDRIAL DNA DEPLETION SYNDROME 17,UMLS ID:C5231412,,,,,mitochondrial DNA depletion syndrome 17,MONDO:0032815,,,mitochondrial DNA depletion syndrome 17,DOID:0070448,,OMIM ID:618567 | OMIM ID:606906 +BMGC_DS17879,BMG_DS068375,"NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY",UMLS ID:C5231413,,,,,"neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",MONDO:0032816,,,,,,OMIM ID:617853 | OMIM ID:618569 +BMGC_DS17880,BMG_DS068376,"NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES",UMLS ID:C5231414,,,,,"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",MONDO:0032817,,,"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",DOID:0070346,,OMIM ID:611345 | OMIM ID:618571 +BMGC_DS17881,BMG_DS068377,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY,UMLS ID:C5231415,,,,,neurodevelopmental disorder with cerebellar hypoplasia and spasticity,MONDO:0032818,,,,,,OMIM ID:611351 | OMIM ID:618572 +BMGC_DS17882,BMG_DS068378,NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES,UMLS ID:C5231416,,,,,neurodevelopmental disorder with structural brain anomalies and dysmorphic facies,MONDO:0032820,,,,,,OMIM ID:602050 | OMIM ID:618577 +BMGC_DS17883,BMG_DS068379,CONGENITAL MYOPATHY 19,UMLS ID:C5231417,,,,,"myopathy, congenital, progressive, with scoliosis",MONDO:0032821,,,congenital myopathy 19,DOID:0081351,,OMIM ID:618578 | OMIM ID:167410 +BMGC_DS17884,BMG_DS068380,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80,UMLS ID:C5231418,,,,,"developmental and epileptic encephalopathy, 80",MONDO:0032822,,,developmental and epileptic encephalopathy 80,DOID:0112216,,OMIM ID:604122 | OMIM ID:618580 +BMGC_DS17885,BMG_DS068381,"NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS",UMLS ID:C5231419,,,,,glycosylphosphatidylinositol biosynthesis defect 21,MONDO:0032824,,,,,,OMIM ID:618590 | OMIM ID:608528 +BMGC_DS17886,BMG_DS068382,"SHORT SLEEP, FAMILIAL NATURAL, 2",UMLS ID:C5231420,,,,,,,,,,,,OMIM ID:618591 | OMIM ID:109630 +BMGC_DS17887,BMG_DS068383,,UMLS ID:C5231421,,,,,"epilepsy, idiopathic generalized, susceptibility to, 16",MONDO:0032827,,,,,,OMIM ID:618596 +BMGC_DS17888,BMG_DS068384,"SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE",UMLS ID:C5231422,,,,,"spastic tetraplegia and axial hypotonia, progressive",MONDO:0032828,,,,,,OMIM ID:147450 | OMIM ID:618598 +BMGC_DS17889,BMG_DS068385,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5231423,,,,,neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities,MONDO:0032829,,,,,,OMIM ID:180660 | OMIM ID:618603 +BMGC_DS17890,BMG_DS068386,SNIJDERS BLOK-FISHER SYNDROME,UMLS ID:C5231424,,,,,snijders blok-fisher syndrome,MONDO:0032830,,,,,,OMIM ID:602480 | OMIM ID:618604 +BMGC_DS17891,BMG_DS068387,"PONTOCEREBELLAR HYPOPLASIA, TYPE 13",UMLS ID:C5231425,,,,,"pontocerebellar hypoplasia, type 13",MONDO:0032831,,,pontocerebellar hypoplasia type 13,DOID:0112332,,OMIM ID:618606 | OMIM ID:615738 +BMGC_DS17892,BMG_DS068388,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES",UMLS ID:C5231426,,,,,"intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies",MONDO:0032832,,,,,,OMIM ID:618608 | OMIM ID:604909 +BMGC_DS17893,BMG_DS068389,"LOWER URINARY TRACT OBSTRUCTION, CONGENITAL",UMLS ID:C5231427,,,,,"lower urinary tract obstruction, congenital",MONDO:0032833,,,,,,OMIM ID:608669 | OMIM ID:618612 +BMGC_DS17894,BMG_DS068390,RETINITIS PIGMENTOSA 86,UMLS ID:C5231428,,,,,retinitis pigmentosa 86,MONDO:0032834,,,retinitis pigmentosa 86,DOID:0112143,,OMIM ID:613344 | OMIM ID:618613 +BMGC_DS17895,BMG_DS068391,,UMLS ID:C5231429,,,,,Weiss-Kruszka syndrome,MONDO:0032836,,,,,,OMIM ID:618619 +BMGC_DS17896,BMG_DS068392,ABDOMINAL OBESITY-METABOLIC SYNDROME 4,UMLS ID:C5231430,,,,,abdominal obesity-metabolic syndrome 4,MONDO:0032837,,,abdominal obesity-metabolic syndrome 4,DOID:0080945,,OMIM ID:618620 | OMIM ID:609443 +BMGC_DS17897,BMG_DS068393,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES",UMLS ID:C5231431,,,,,"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies",MONDO:0032838,,,,,,OMIM ID:610457 | OMIM ID:618622 +BMGC_DS17898,BMG_DS068394,NOONAN SYNDROME 12,UMLS ID:C5231432,,,,,noonan syndrome 12,MONDO:0032839,,,Noonan syndrome 12,DOID:0112170,,OMIM ID:618624 | OMIM ID:600098 +BMGC_DS17899,BMG_DS068395,Rothmund Thomson syndrome type 1,UMLS ID:C5231433,Rothmund Thomson syndrome type 1 (disorder) | Rothmund Thomson syndrome type 1,SNOMEDCT ID:1003922004,,,Rothmund-Thomson syndrome type 1,MONDO:0016368,,,,,,OMIM ID:618625 +BMGC_DS17900,BMG_DS068396,"USHER SYNDROME, TYPE 1M",UMLS ID:C5231434,,,,,"Usher syndrome, type 1M",MONDO:0032841,,,,,,OMIM ID:618632 | OMIM ID:606351 +BMGC_DS17901,BMG_DS068397,SIDDIQI SYNDROME,UMLS ID:C5231435,,,,,Siddiqi syndrome,MONDO:0032842,,,Siddiqi syndrome,DOID:0081273,,OMIM ID:612029 | OMIM ID:618635 +BMGC_DS17902,BMG_DS068398,OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1,UMLS ID:C5231436,,,,,oculopharyngeal myopathy with leukoencephalopathy 1,MONDO:0032843,,,,,,OMIM ID:618639 | OMIM ID:618637 +BMGC_DS17903,BMG_DS068399,INFANTILE LIVER FAILURE SYNDROME 3,UMLS ID:C5231437,,,,,infantile liver failure syndrome 3,MONDO:0032844,,,,,,OMIM ID:610089 | OMIM ID:618641 +BMGC_DS17904,BMG_DS068400,SPERMATOGENIC FAILURE 39,UMLS ID:C5231438,,,,,spermatogenic failure 39,MONDO:0032845,,,spermatogenic failure 39,DOID:0111926,,OMIM ID:618643 | OMIM ID:610063 +BMGC_DS17905,BMG_DS068401,"OSTEOGENESIS IMPERFECTA, TYPE XX",UMLS ID:C5231439,,,,,"osteogenesis imperfecta, type 20",MONDO:0032846,,,osteogenesis imperfecta type 20,DOID:0111849,,OMIM ID:607783 | OMIM ID:618644 +BMGC_DS17906,BMG_DS068402,DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2,UMLS ID:C5231440,,,,,diencephalic-mesencephalic junction dysplasia syndrome 2,MONDO:0020762,,,,,,OMIM ID:616253 | OMIM ID:618646 +BMGC_DS17907,BMG_DS068403,"IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS",UMLS ID:C5231441,,,,,"immunodeficiency 65, susceptibility to viral infections",MONDO:0032848,,,immunodeficiency 65,DOID:0111978,,OMIM ID:618648 | OMIM ID:147574 +BMGC_DS17908,BMG_DS068404,HALPERIN-BIRK SYNDROME,UMLS ID:C5231442,,,,,"neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies",MONDO:0032849,,,Halperin-Birk syndrome,DOID:0070539,,OMIM ID:618651 | OMIM ID:610257 +BMGC_DS17909,BMG_DS068405,NEUROOCULOCARDIOGENITOURINARY SYNDROME,UMLS ID:C5231443,,,,,neurooculocardiogenitourinary syndrome,MONDO:0032850,,,neurooculocardiogenitourinary syndrome,DOID:0111675,,OMIM ID:618586 | OMIM ID:618652 +BMGC_DS17910,BMG_DS068406,INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES,UMLS ID:C5231444,,,,,intellectual developmental disorder with impaired language and dysmorphic facies,MONDO:0032851,,,,,,OMIM ID:600326 | OMIM ID:618653 +BMGC_DS17911,BMG_DS068407,CONGENITAL MYOPATHY 8,UMLS ID:C5231445,,,,,"myopathy, congenital, with structured cores and z-line abnormalities",MONDO:0032852,,,congenital myopathy 8,DOID:0081342,,OMIM ID:618654 | OMIM ID:102573 +BMGC_DS17912,BMG_DS068408,ZIMMERMANN-LABAND SYNDROME 3,UMLS ID:C5231447,,,,,zimmermann-laband syndrome 3,MONDO:0032854,,,,,,OMIM ID:618658 | OMIM ID:602983 +BMGC_DS17913,BMG_DS068409,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES,UMLS ID:C5231448,,,,,neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,MONDO:0032855,,,,,,OMIM ID:607159 | OMIM ID:618659 +BMGC_DS17914,BMG_DS068410,"DIARRHEA 11, MALABSORPTIVE, CONGENITAL",UMLS ID:C5231449,,,,,"diarrhea 11, malabsorptive, congenital",MONDO:0032857,,,,,,OMIM ID:618656 | OMIM ID:618662 +BMGC_DS17915,BMG_DS068411,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81,UMLS ID:C5231450,,,,,"developmental and epileptic encephalopathy, 81",MONDO:0032858,,,developmental and epileptic encephalopathy 81,DOID:0112217,,OMIM ID:618663 | OMIM ID:612186 +BMGC_DS17916,BMG_DS068412,SPERMATOGENIC FAILURE 40,UMLS ID:C5231451,,,,,spermatogenic failure 40,MONDO:0032859,,,spermatogenic failure 40,DOID:0111918,,OMIM ID:614270 | OMIM ID:618664 +BMGC_DS17917,BMG_DS068413,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72",UMLS ID:C5231452,,,,,"intellectual developmental disorder, autosomal recessive 72",MONDO:0032860,,,autosomal recessive intellectual developmental disorder 72,DOID:0080765,,OMIM ID:618628 | OMIM ID:618665 +BMGC_DS17918,BMG_DS068414,SITOSTEROLEMIA 2,UMLS ID:C5231453,,,,,sitosterolemia 2,MONDO:0020748,,,sitosterolemia 2,DOID:0060983,,OMIM ID:605459 | OMIM ID:618666 +BMGC_DS17919,BMG_DS068415,"HYDROCEPHALUS, CONGENITAL, 4",UMLS ID:C5231454,,,,,"hydrocephalus, congenital communicating, 1",MONDO:0032862,,,,,,OMIM ID:618667 | OMIM ID:618570 +BMGC_DS17920,BMG_DS068416,SPERMATOGENIC FAILURE 41,UMLS ID:C5231455,,,,,spermatogenic failure 41,MONDO:0032863,,,spermatogenic failure 41,DOID:0111912,,OMIM ID:618661 | OMIM ID:618670 +BMGC_DS17921,BMG_DS068417,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES",UMLS ID:C5231456,,,,,"intellectual developmental disorder with speech delay, autism, and dysmorphic facies",MONDO:0032864,,,,,,OMIM ID:604910 | OMIM ID:618672 +BMGC_DS17922,BMG_DS068418,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 5",UMLS ID:C5231457,,,,,"pulmonary fibrosis and/or bone marrow failure, telomere-related, 5",MONDO:0032865,,,,,,OMIM ID:618674 | OMIM ID:616381 +BMGC_DS17923,BMG_DS068419,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10",UMLS ID:C5231458,,,,,"cortical dysplasia, complex, with other brain malformations 10",MONDO:0032866,,,,,,OMIM ID:612034 | OMIM ID:618677 +BMGC_DS17924,BMG_DS068420,,UMLS ID:C5231459,,,,,"pancreatic cancer, susceptibility to, 5",MONDO:0032867,,,,,,OMIM ID:618680 +BMGC_DS17925,BMG_DS068421,LESSEL-KUBISCH SYNDROME,UMLS ID:C5231460,,,,,lessel-kubisch syndrome,MONDO:0032868,,,,,,OMIM ID:618681 | OMIM ID:164785 +BMGC_DS17926,BMG_DS068422,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6",UMLS ID:C5231461,,,,,"mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6",MONDO:0032869,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 6,DOID:0111749,,OMIM ID:618683 | OMIM ID:615204 +BMGC_DS17927,BMG_DS068423,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5231462,,,,,intellectual developmental disorder with short stature and behavioral abnormalities,MONDO:0032870,,,intellectual developmental disorder with short stature and behavioral abnormalities,DOID:0111674,,OMIM ID:610166 | OMIM ID:618687 +BMGC_DS17928,BMG_DS068424,"LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE",UMLS ID:C5231463,,,,,"leukodystrophy, hypomyelinating, 19, transient infantile",MONDO:0032871,,,hypomyelinating leukodystrophy 19,DOID:0070400,,OMIM ID:618688 | OMIM ID:618685 +BMGC_DS17929,BMG_DS068425,,UMLS ID:C5231464,,,,,"ciliary dyskinesia, primary, 42",MONDO:0032872,,,,,,OMIM ID:618695 +BMGC_DS17930,BMG_DS068426,RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT,UMLS ID:C5231465,,,,,retinitis pigmentosa 87 with choroidal involvement,MONDO:0032873,,,retinitis pigmentosa 87,DOID:0112144,,OMIM ID:180069 | OMIM ID:618697 +BMGC_DS17931,BMG_DS068427,"CILIARY DYSKINESIA, PRIMARY, 43",UMLS ID:C5231466,,,,,"ciliary dyskinesia, primary, 43",MONDO:0032874,,,primary ciliary dyskinesia 43,DOID:0111856,,OMIM ID:618699 +BMGC_DS17932,BMG_DS068428,SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES,UMLS ID:C5231467,,,,,short stature and microcephaly with genital anomalies,MONDO:0032875,,,,,,OMIM ID:611510 | OMIM ID:618702 +BMGC_DS17933,BMG_DS068429,NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES,UMLS ID:C5231469,,,,,neurodevelopmental disorder with absent language and variable seizures,MONDO:0032876,,,,,,OMIM ID:618707 | OMIM ID:605035 +BMGC_DS17934,BMG_DS068430,NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES,UMLS ID:C5231470,,,,,neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures,MONDO:0032877,,,,,,OMIM ID:606582 | OMIM ID:618709 +BMGC_DS17935,BMG_DS068431,"NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA",UMLS ID:C5231471,,,,,"neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia",MONDO:0032878,,,,,,OMIM ID:618689 | OMIM ID:618718 +BMGC_DS17936,BMG_DS068432,,UMLS ID:C5231472,,,,,"megabladder, congenital",MONDO:0032879,,,,,,OMIM ID:618719 +BMGC_DS17937,BMG_DS068433,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82,UMLS ID:C5231473,,,,,"developmental and epileptic encephalopathy, 82",MONDO:0032880,,,developmental and epileptic encephalopathy 82,DOID:0080715,,OMIM ID:138150 | OMIM ID:618721 +BMGC_DS17938,BMG_DS068434,PREMATURE OVARIAN FAILURE 16,UMLS ID:C5231474,,,,,premature ovarian failure 16,MONDO:0032881,,,primary ovarian insufficiency 16,DOID:0080873,,OMIM ID:601930 | OMIM ID:618723 +BMGC_DS17939,BMG_DS068435,HEYN-SPROUL-JACKSON SYNDROME,UMLS ID:C5231475,,,,,Heyn-Sproul-Jackson syndrome,MONDO:0032882,,,,,,OMIM ID:618724 | OMIM ID:602769 +BMGC_DS17940,BMG_DS068436,INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES,UMLS ID:C5231476,,,,,intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures,MONDO:0032883,,,,,,OMIM ID:618725 | OMIM ID:608325 +BMGC_DS17941,BMG_DS068437,"ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES",UMLS ID:C5231477,,,,,"ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies",MONDO:0032884,,,,,,OMIM ID:618727 +BMGC_DS17942,BMG_DS068438,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE",UMLS ID:C5231478,,,,,"spondyloepimetaphyseal dysplasia, Isidor-Toutain type",MONDO:0032885,,,,,,OMIM ID:618728 | OMIM ID:113703 +BMGC_DS17943,BMG_DS068439,LIANG-WANG SYNDROME,UMLS ID:C5231479,,,,,Liang-Wang syndrome,MONDO:0032886,,,,,,OMIM ID:600150 | OMIM ID:618729 +BMGC_DS17944,BMG_DS068440,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY",UMLS ID:C5231480,,,,,"neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity",MONDO:0032887,,,,,,OMIM ID:616715 | OMIM ID:618730 +BMGC_DS17945,BMG_DS068441,NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES,UMLS ID:C5231481,,,,,neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies,MONDO:0032888,,,,,,OMIM ID:618731 +BMGC_DS17946,BMG_DS068442,,UMLS ID:C5231482,,,,,Poirier-Bienvenu neurodevelopmental syndrome,MONDO:0032889,,,,,,OMIM ID:618732 +BMGC_DS17947,BMG_DS068443,NEUROMUSCULAR OCULOAUDITORY SYNDROME,UMLS ID:C5231483,,,,,neuromuscular disease and ocular or auditory anomalies with or without seizures,MONDO:0032890,,,,,,OMIM ID:603405 | OMIM ID:618733 +BMGC_DS17948,BMG_DS068444,"ANEURYSM, INTRACRANIAL BERRY, 12",UMLS ID:C5231484,,,,,"aneurysm, intracranial berry, 12",MONDO:0032891,,,intracranial berry aneurysm 12,DOID:0080975,,OMIM ID:618734 | OMIM ID:616821 +BMGC_DS17949,BMG_DS068445,STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS,UMLS ID:C5231485,,,,,structural brain anomalies with impaired intellectual development and craniosynostosis,MONDO:0032892,,,,,,OMIM ID:618736 | OMIM ID:600470 +BMGC_DS17950,BMG_DS068446,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 15",UMLS ID:C5231486,,,,,"pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures",MONDO:0032893,,,"pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures",DOID:0081266,,OMIM ID:618737 | OMIM ID:617817 +BMGC_DS17951,BMG_DS068447,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83,UMLS ID:C5231487,,,,,"developmental and epileptic encephalopathy, 83",MONDO:0032895,,,developmental and epileptic encephalopathy 83,DOID:0112218,,OMIM ID:191760 | OMIM ID:618744 +BMGC_DS17952,BMG_DS068448,SPERMATOGENIC FAILURE 42,UMLS ID:C5231488,,,,,spermatogenic failure 42,MONDO:0032896,,,spermatogenic failure 42,DOID:0111923,,OMIM ID:618745 | OMIM ID:618735 +BMGC_DS17953,BMG_DS068449,INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5231489,,,,,intellectual developmental disorder with hypotonia and behavioral abnormalities,MONDO:0032897,,,,,,OMIM ID:603184 | OMIM ID:618748 +BMGC_DS17954,BMG_DS068450,SPERMATOGENIC FAILURE 43,UMLS ID:C5231490,,,,,spermatogenic failure 43,MONDO:0032898,,,spermatogenic failure 43,DOID:0111917,,OMIM ID:618751 | OMIM ID:610172 +BMGC_DS17955,BMG_DS068451,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS,UMLS ID:C5231491,,,,,neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,MONDO:0032900,,,,,,OMIM ID:618760 +BMGC_DS17956,BMG_DS068452,CATIFA SYNDROME,UMLS ID:C5231492,,,,,Catifa syndrome,MONDO:0032901,,,,,,OMIM ID:618761 | OMIM ID:610354 +BMGC_DS17957,BMG_DS068453,JOUBERT SYNDROME 36,UMLS ID:C5231493,,,,,Joubert syndrome 36,MONDO:0032902,,,,,,OMIM ID:618763 | OMIM ID:618413 +BMGC_DS17958,BMG_DS068454,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM",UMLS ID:C5231494,,,,,"arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum",MONDO:0032903,,,arthrogryposis multiplex congenita-4,DOID:0080980,,OMIM ID:618766 | OMIM ID:616365 +BMGC_DS17959,BMG_DS068455,"CORNEAL DYSTROPHY, MEESMANN, 2",UMLS ID:C5231495,,,,,"corneal dystrophy, Meesmann, 2",MONDO:0032904,,,Meesmann corneal dystrophy 2,DOID:0080671,,OMIM ID:618767 | OMIM ID:148043 +BMGC_DS17960,BMG_DS068456,LYMPHATIC MALFORMATION 8,UMLS ID:C5231496,,,,,lymphatic malformation 8,MONDO:0032907,,,,,,OMIM ID:114190 | OMIM ID:618773 +BMGC_DS17961,BMG_DS068457,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES",UMLS ID:C5231497,,,,,intellectual developmental disorder 60 with seizures,MONDO:0032823,,,,,,OMIM ID:618587 | OMIM ID:601024 +BMGC_DS17962,BMG_DS068458,"NEPHROTIC SYNDROME, TYPE 21",UMLS ID:C5231498,,,,,"nephrotic syndrome, type 21",MONDO:0032826,,,nephrotic syndrome type 21,DOID:0112267,,OMIM ID:618594 | OMIM ID:613397 +BMGC_DS17963,BMG_DS068459,"CORNEAL DYSTROPHY, MEESMANN, 1",UMLS ID:C5231499,,,,,"corneal dystrophy, Meesmann, 1",MONDO:0020791,,,Meesmann corneal dystrophy 1,DOID:0080670,,OMIM ID:122100 | OMIM ID:601687 +BMGC_DS17964,BMG_DS068460,CHROMOSOME 12q15 DELETION SYNDROME,UMLS ID:C5231501,,,,,,,,,,,,OMIM ID:618608 +BMGC_DS17965,BMG_DS068468,HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY,UMLS ID:C5231513,,,,,hemolytic anemia due to glutathione reductase deficiency,MONDO:0019531,,,congenital nonspherocytic hemolytic anemia 10,DOID:0051009,,OMIM ID:138300 | OMIM ID:618660 +BMGC_DS17966,BMG_DS068478,"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SEVERE",UMLS ID:C5231533,,,,,,,,,,,,OMIM ID:605712 +BMGC_DS17967,BMG_DS068488,"HYPOALPHALIPOPROTEINEMIA, PRIMARY, 1",UMLS ID:C5231558,,,,,"hypoalphalipoproteinemia, primary, 1",MONDO:0011393,,,primary hypoalphalipoproteinemia 1,DOID:0080957,,OMIM ID:604091 +BMGC_DS17968,BMG_DS068490,Secondary Vesicoureteral Reflux,UMLS ID:C5232302,,,,,,,Vesico-Ureteral Reflux,MeSH ID:D014718,,,, +BMGC_DS17969,BMG_DS068505,Olfactory Impairment,UMLS ID:C5234846,,,,,,,Olfaction Disorders,MeSH ID:D000857,,,, +BMGC_DS17970,BMG_DS068506,Antley-Bixler Syndrome,UMLS ID:C5234850,,,,,Antley-Bixler syndrome,MONDO:0008803,Antley-Bixler Syndrome Phenotype,MeSH ID:D054882,,,, +BMGC_DS17971,BMG_DS068507,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA",UMLS ID:C5234852,,,,,ALDH18A1-related de Barsy syndrome,MONDO:0009053,,,,,,OMIM ID:138250 | OMIM ID:219150 +BMGC_DS17972,BMG_DS068509,,UMLS ID:C5234880,,,,,gastrointestinal defect and immunodeficiency syndrome,MONDO:0030831,,,,,, +BMGC_DS17973,BMG_DS068512,Hemorrhagic Stroke,UMLS ID:C5234922,,,,,,,Hemorrhagic Stroke,MeSH ID:D000083302,,,, +BMGC_DS17974,BMG_DS068516,Acromesomelic dysplasia syndrome,UMLS ID:C5235036,Acromesomelic dysplasia syndrome | Acromesomelic dysplasia syndrome (disorder) | Acromesomelic dysplasia | Acromesomelic dwarfism | Acromesomelic dysplasia syndrome | Acromesomelic dysplasia (disorder) | Acromesomelic dysplasia syndrome | Acromesomelic dysplasia group | Acromesomelic dwarfism | Acromesomelic dysplasia | Acromesomelic dysplasia group (disorder),SNOMEDCT ID:90635004 | SNOMEDCT ID:205474002 | SNOMEDCT ID:279082008,,,acromesomelic dysplasia,MONDO:0019696,,,,,, +BMGC_DS17975,BMG_DS068518,Cryptococcosis,UMLS ID:C5235087,,,,,,,Cryptococcosis,MeSH ID:D003453,,,, +BMGC_DS17976,BMG_DS068519,,UMLS ID:C5235139,,,,,hereditary spastic paraplegia 30,MONDO:0012476,,,,,,OMIM ID:610357 +BMGC_DS17977,BMG_DS068520,"Neutropenia, Severe Congenital, Autosomal Recessive 3",UMLS ID:C5235141,,,,,Kostmann syndrome,MONDO:0012548,,MeSH ID:C537592,,,,OMIM ID:610738 +BMGC_DS17978,BMG_DS068525,Focal facial dermal dysplasia type I,UMLS ID:C5235196,Focal facial dermal dysplasia type I | Brauer syndrome | Focal facial dermal dysplasia type I (disorder) | Focal facial dermal dysplasia 1 Brauer type | Bitemporal aplasia cutis congenita | FFDD type 1 - focal facial dermal dysplasia type 1,SNOMEDCT ID:789157007,,,focal facial dermal dysplasia type I,MONDO:0007627,,,,,,OMIM ID:136500 +BMGC_DS17979,BMG_DS068526,Hereditary sensory autonomic neuropathy type IA,UMLS ID:C5235211,Hereditary sensory autonomic neuropathy type IA (disorder) | Hereditary sensory autonomic neuropathy type IA,SNOMEDCT ID:860813007,,,"neuropathy, hereditary sensory and autonomic, type 1A",MONDO:0008086,,,,,,OMIM ID:162400 +BMGC_DS17980,BMG_DS068535,COFFIN-SIRIS SYNDROME 11,UMLS ID:C5241442,,,,,Coffin-Siris syndrome 11,MONDO:0032912,,,Coffin-Siris syndrome 11,DOID:0112372,,OMIM ID:601735 | OMIM ID:618779 +BMGC_DS17981,BMG_DS068536,"HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1",UMLS ID:C5241444,,,,,"hypoparathyroidism, familial isolated 1",MONDO:0007796,,,familial isolated hypoparathyroidism,DOID:0111387,,OMIM ID:146200 | OMIM ID:168450 +BMGC_DS17982,BMG_DS068537,,UMLS ID:C5241445,,,,,"radioulnar synostosis, nonsyndromic, susceptibility to",MONDO:0100183,,,,,,OMIM ID:179300 +BMGC_DS17983,BMG_DS068539,Emery-Dreifuss Muscular Dystrophy 1,UMLS ID:C5243475,,,,,"Emery-Dreifuss muscular dystrophy 1, X-linked",MONDO:0100531,X-Linked Emery-Dreifuss Muscular Dystrophy,MeSH ID:D000083143,,,,OMIM ID:310300 +BMGC_DS17984,BMG_DS068540,Cardiometabolic Syndrome,UMLS ID:C5243476,,,,,,,Metabolic Syndrome,MeSH ID:D024821,,,, +BMGC_DS17985,BMG_DS068542,Special AT-rich sequence-binding protein 2-associated syndrome,UMLS ID:C5243581,SATB2-associated syndrome | Special AT-rich sequence-binding protein 2-associated syndrome | Special AT-rich sequence-binding protein 2-associated syndrome (disorder),SNOMEDCT ID:1208488006,,,,,,,,,, +BMGC_DS17986,BMG_DS068548,,UMLS ID:C5243927,,,,,acid sphingomyelinase deficiency,MONDO:0100464,,,,,, +BMGC_DS17987,BMG_DS068550,"Autoimmune interstitial lung disease, arthritis syndrome",UMLS ID:C5243948,"Autoimmune interstitial lung disease, arthritis syndrome (disorder) | COPA (coatomer protein complex subunit alpha) syndrome | Autoimmune interstitial lung disease, arthritis syndrome",SNOMEDCT ID:1222679006,,,autoimmune interstitial lung disease-arthritis syndrome,MONDO:0014629,,,,,,OMIM ID:616414 +BMGC_DS17988,BMG_DS068551,,UMLS ID:C5244016,,,,,cerebral creatine deficiency syndrome,MONDO:0000456,,,,,, +BMGC_DS17989,BMG_DS068552,Pneumonia caused by SARS-CoV-2,UMLS ID:C5244027,COVID-19 pneumonia | Pneumonia caused by SARS-CoV-2 | Pneumonia caused by 2019 novel coronavirus | Pneumonia caused by 2019-nCoV | Pneumonia caused by severe acute respiratory syndrome coronavirus 2 | Pneumonia caused by severe acute respiratory syndrome coronavirus 2 (disorder),SNOMEDCT ID:882784691000119100,,,,,,,,,, +BMGC_DS17990,BMG_DS068772,Laminopathies,UMLS ID:C5392094,,,,,laminopathy,MONDO:0021106,Laminopathies,MeSH ID:D000083083,,,, +BMGC_DS17991,BMG_DS068773,Cryptogenic Ischemic Stroke,UMLS ID:C5392097,,,,,,,Ischemic Stroke,MeSH ID:D000083242,,,, +BMGC_DS17992,BMG_DS068774,Intracerebral Hemorrhagic Stroke,UMLS ID:C5392098,,,,,,,Hemorrhagic Stroke,MeSH ID:D000083302,,,, +BMGC_DS17993,BMG_DS068781,"Respiratory Distress Syndrome, Pediatric",UMLS ID:C5392184,,,,,,,Respiratory Distress Syndrome,MeSH ID:D012128,,,, +BMGC_DS17994,BMG_DS068792,Wake-up Stroke,UMLS ID:C5392832,,,,,,,Ischemic Stroke,MeSH ID:D000083242,,,, +BMGC_DS17995,BMG_DS068793,Acute Ischemic Stroke,UMLS ID:C5392833,,,,,,,Ischemic Stroke,MeSH ID:D000083242,,,, +BMGC_DS17996,BMG_DS068795,Subarachnoid Hemorrhagic Stroke,UMLS ID:C5392835,,,,,,,Hemorrhagic Stroke,MeSH ID:D000083302,,,, +BMGC_DS17997,BMG_DS068805,Smell Dysfunction,UMLS ID:C5392883,,,,,,,Olfaction Disorders,MeSH ID:D000857,,,, +BMGC_DS17998,BMG_DS068814,Taste Dysfunction,UMLS ID:C5392959,,,,,,,Taste Disorders,MeSH ID:D013651,,,, +BMGC_DS17999,BMG_DS068815,Pityriasis Folliculitis,UMLS ID:C5392960,,,,,,,Tinea Versicolor,MeSH ID:D014010,,,, +BMGC_DS18000,BMG_DS068819,SILVER-RUSSELL SYNDROME 1,UMLS ID:C5393125,,,,,Silver-Russell syndrome 1,MONDO:0020796,,,,,,OMIM ID:180860 +BMGC_DS18001,BMG_DS068822,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE",UMLS ID:C5393299,,,,,"intellectual disability, X-linked 102",MONDO:0010497,,,,,,OMIM ID:300160 | OMIM ID:300958 +BMGC_DS18002,BMG_DS068823,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE",UMLS ID:C5393302,,,,,"intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type",MONDO:0026733,,,,,,OMIM ID:301039 | OMIM ID:300766 +BMGC_DS18003,BMG_DS068824,"WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED",UMLS ID:C5393303,,,,,"Wieacker-Wolff syndrome, female-restricted",MONDO:0026762,,,female-restricted Wieacker-Wolff syndrome,DOID:0061015,,OMIM ID:301041 | OMIM ID:300897 +BMGC_DS18004,BMG_DS068825,"HOLOPROSENCEPHALY 13, X-LINKED",UMLS ID:C5393308,,,,,"holoprosencephaly 13, X-linked",MONDO:0026763,,,"Holoprosencephaly 13, X-linked",DOID:0060954,,OMIM ID:300826 | OMIM ID:301043 +BMGC_DS18005,BMG_DS068826,,UMLS ID:C5393309,,,,,microform holoprosencephaly,MONDO:0017219,,,,,, +BMGC_DS18006,BMG_DS068827,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS,UMLS ID:C5393312,,,,,"developmental and epileptic encephalopathy, 85, with or without midline brain defects",MONDO:0026771,,,developmental and epileptic encephalopathy 85,DOID:0070380,,OMIM ID:300040 | OMIM ID:301044 +BMGC_DS18007,BMG_DS068828,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr",UMLS ID:C5393313,,,,,"congenital disorder of glycosylation, type IIr",MONDO:0026765,,,,,,OMIM ID:301045 | OMIM ID:300556 +BMGC_DS18008,BMG_DS068829,"DIABETES MELLITUS, PERMANENT NEONATAL, 1",UMLS ID:C5393570,,,,,permanent neonatal diabetes mellitus 1,MONDO:0100165,,,permanent neonatal diabetes mellitus,DOID:0060639,,OMIM ID:138079 | OMIM ID:606176 +BMGC_DS18009,BMG_DS068831,,UMLS ID:C5393830,,,,,"intellectual disability, autosomal dominant 9",MONDO:0013656,,,,,,OMIM ID:614255 +BMGC_DS18010,BMG_DS068832,HAO-FOUNTAIN SYNDROME,UMLS ID:C5393908,,,,,Hao-Fountain syndrome,MONDO:0014805,,,,,,OMIM ID:616863 | OMIM ID:602519 +BMGC_DS18011,BMG_DS068833,"NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY",UMLS ID:C5394027,,,,,"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy",MONDO:0032894,,,,,,OMIM ID:618741 | OMIM ID:610971 +BMGC_DS18012,BMG_DS068834,"SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE",UMLS ID:C5394033,,,,,"spastic paraplegia 81, autosomal recessive",MONDO:0032905,,,hereditary spastic paraplegia 81,DOID:0112349,,OMIM ID:618768 | OMIM ID:607915 +BMGC_DS18013,BMG_DS068835,"SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE",UMLS ID:C5394037,,,,,"spastic paraplegia 82, autosomal recessive",MONDO:0032906,,,hereditary spastic paraplegia 82,DOID:0112343,,OMIM ID:618770 | OMIM ID:602679 +BMGC_DS18014,BMG_DS068836,CEBALID SYNDROME,UMLS ID:C5394044,,,,,CEBALID syndrome,MONDO:0032908,,,,,,OMIM ID:156100 | OMIM ID:618774 +BMGC_DS18015,BMG_DS068837,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10",UMLS ID:C5394051,,,,,"mitochondrial complex 3 deficiency, nuclear type 10",MONDO:0032909,,,,,,OMIM ID:191327 | OMIM ID:618775 +BMGC_DS18016,BMG_DS068838,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34",UMLS ID:C5394053,,,,,"mitochondrial complex 1 deficiency, nuclear type 34",MONDO:0032910,,,nuclear type mitochondrial complex I deficiency 34,DOID:0112091,,OMIM ID:618776 | OMIM ID:618461 +BMGC_DS18017,BMG_DS068839,"DEAFNESS, AUTOSOMAL DOMINANT 75",UMLS ID:C5394059,,,,,"hearing loss, autosomal dominant 75",MONDO:0032911,,,autosomal dominant nonsyndromic deafness 75,DOID:0112166,,OMIM ID:618778 | OMIM ID:603015 +BMGC_DS18018,BMG_DS068840,,UMLS ID:C5394062,,,,,"congenital heart defects, multiple types, 7",MONDO:0032913,,,,,,OMIM ID:618780 +BMGC_DS18019,BMG_DS068841,"CILIARY DYSKINESIA, PRIMARY, 44",UMLS ID:C5394063,,,,,"ciliary dyskinesia, primary, 44",MONDO:0032914,,,primary ciliary dyskinesia 44,DOID:0111851,,OMIM ID:618726 | OMIM ID:618781 +BMGC_DS18020,BMG_DS068842,LONG QT SYNDROME 16,UMLS ID:C5394068,,,,,long QT syndrome 16,MONDO:0032915,,,long QT syndrome 16,DOID:0070533,,OMIM ID:114183 | OMIM ID:618782 +BMGC_DS18021,BMG_DS068843,"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6",UMLS ID:C5394069,,,,,"ventricular tachycardia, catecholaminergic polymorphic 6",MONDO:0800374,,,,,,OMIM ID:114183 +BMGC_DS18022,BMG_DS068844,IMAGAWA-MATSUMOTO SYNDROME,UMLS ID:C5394073,,,,,Imagawa-Matsumoto syndrome,MONDO:0032916,,,,,,OMIM ID:606245 | OMIM ID:618786 +BMGC_DS18023,BMG_DS068845,"DEAFNESS, AUTOSOMAL DOMINANT 76",UMLS ID:C5394080,,,,,"hearing loss, autosomal dominant 76",MONDO:0032917,,,autosomal dominant nonsyndromic deafness 76,DOID:0112167,,OMIM ID:618787 | OMIM ID:602734 +BMGC_DS18024,BMG_DS068846,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84,UMLS ID:C5394081,,,,,"developmental and epileptic encephalopathy, 84",MONDO:0032918,,,developmental and epileptic encephalopathy 84,DOID:0112219,,OMIM ID:618792 | OMIM ID:603370 +BMGC_DS18025,BMG_DS068847,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62",UMLS ID:C5394083,,,,,intellectual developmental disorder 62,MONDO:0032919,,,,,,OMIM ID:602887 | OMIM ID:618793 +BMGC_DS18026,BMG_DS068848,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION",UMLS ID:C5394091,,,,,"neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation",MONDO:0032921,,,,,,OMIM ID:608884 | OMIM ID:618797 +BMGC_DS18027,BMG_DS068849,BECK-FAHRNER SYNDROME,UMLS ID:C5394097,,,,,Beck-Fahrner syndrome,MONDO:0032922,,,,,,OMIM ID:618798 +BMGC_DS18028,BMG_DS068850,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28",UMLS ID:C5394101,,,,,"spinocerebellar ataxia, autosomal recessive 28",MONDO:0032923,,,autosomal recessive spinocerebellar ataxia 28,DOID:0070409,,OMIM ID:618800 | OMIM ID:618802 +BMGC_DS18029,BMG_DS068851,"CILIARY DYSKINESIA, PRIMARY, 45",UMLS ID:C5394104,,,,,"ciliary dyskinesia, primary, 45",MONDO:0032924,,,primary ciliary dyskinesia 45,DOID:0111857,,OMIM ID:618801 | OMIM ID:610732 +BMGC_DS18030,BMG_DS068852,"RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL",UMLS ID:C5394112,,,,,"respiratory papillomatosis, juvenile recurrent, congenital",MONDO:0032925,,,,,,OMIM ID:618803 | OMIM ID:606636 +BMGC_DS18031,BMG_DS068853,SANDESTIG-STEFANOVA SYNDROME,UMLS ID:C5394118,,,,,sandestig-stefanova syndrome,MONDO:0032926,,,Sandestig-Stefanova syndrome,DOID:0081272,,OMIM ID:618804 | OMIM ID:615587 +BMGC_DS18032,BMG_DS068854,TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME,UMLS ID:C5394125,,,,,triokinase and FMN cyclase deficiency syndrome,MONDO:0032927,,,,,,OMIM ID:615844 | OMIM ID:618805 +BMGC_DS18033,BMG_DS068855,"T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT",UMLS ID:C5394133,,,,,"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant",MONDO:0032928,,,,,,OMIM ID:600838 | OMIM ID:618806 +BMGC_DS18034,BMG_DS068856,INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA,UMLS ID:C5394135,,,,,intellectual developmental disorder with poor growth and with or without seizures or ataxia,MONDO:0032930,,,,,,OMIM ID:618808 +BMGC_DS18035,BMG_DS068857,"PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL",UMLS ID:C5394137,,,,,"pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal",MONDO:0032931,,,"neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome",DOID:0081396,,OMIM ID:618810 | OMIM ID:612316 +BMGC_DS18036,BMG_DS068858,MITOCHONDRIAL DNA DEPLETION SYNDROME 18,UMLS ID:C5394140,,,,,mitochondrial DNA depletion syndrome 18,MONDO:0032932,,,mitochondrial DNA depletion syndrome 18,DOID:0070449,,OMIM ID:607571 | OMIM ID:618811 +BMGC_DS18037,BMG_DS068859,"CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT",UMLS ID:C5394150,,,,,"chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant",MONDO:0032933,,,chromosome 1p36.33 duplication syndrome,DOID:0070470,,OMIM ID:618815 +BMGC_DS18038,BMG_DS068860,GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME,UMLS ID:C5394158,,,,,genitourinary and/or brain malformation syndrome,MONDO:0032934,,,,,,OMIM ID:618820 | OMIM ID:602021 +BMGC_DS18039,BMG_DS068861,RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES,UMLS ID:C5394173,,,,,rhizomelic limb shortening with dysmorphic features,MONDO:0032935,,,,,,OMIM ID:618821 | OMIM ID:614150 +BMGC_DS18040,BMG_DS068862,CONGENITAL MYOPATHY 9A,UMLS ID:C5394189,,,,,"myopathy, congenital, with respiratory insufficiency and bone fractures",MONDO:0032936,,,congenital myopathy 9A,DOID:0081343,,OMIM ID:618822 +BMGC_DS18041,BMG_DS068863,"CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS",UMLS ID:C5394193,,,,,"myopathy, congenital proximal, with minicore lesions",MONDO:0032937,,,congenital myopathy 9B,DOID:0081344,,OMIM ID:600819 | OMIM ID:618823 +BMGC_DS18042,BMG_DS068864,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE",UMLS ID:C5394199,,,,,"basal ganglia calcification, idiopathic, 8, autosomal recessive",MONDO:0032938,,,,,,OMIM ID:618824 | OMIM ID:606870 +BMGC_DS18043,BMG_DS068865,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY",UMLS ID:C5394205,,,,,"intellectual developmental disorder, autosomal dominant 63, with macrocephaly",MONDO:0032939,,,,,,OMIM ID:601893 | OMIM ID:618825 +BMGC_DS18044,BMG_DS068866,RETINITIS PIGMENTOSA 88,UMLS ID:C5394208,,,,,retinitis pigmentosa 88,MONDO:0032940,,,retinitis pigmentosa 88,DOID:0112145,,OMIM ID:618826 | OMIM ID:608581 +BMGC_DS18045,BMG_DS068867,"MYOPIA 27, AUTOSOMAL DOMINANT",UMLS ID:C5394215,,,,,myopia 27,MONDO:0032941,,,,,,OMIM ID:618827 +BMGC_DS18046,BMG_DS068868,"NABAIS SA-DE VRIES SYNDROME, TYPE 1",UMLS ID:C5394218,,,,,neurodevelopmental disorder with microcephaly and dysmorphic facies,MONDO:0032942,,,,,,OMIM ID:602650 | OMIM ID:618828 +BMGC_DS18047,BMG_DS068869,"NABAIS SA-DE VRIES SYNDROME, TYPE 2",UMLS ID:C5394221,,,,,neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies,MONDO:0032943,,,,,,OMIM ID:602650 | OMIM ID:618829 +BMGC_DS18048,BMG_DS068870,,UMLS ID:C5394226,,,,,"autism, susceptibility to, 20",MONDO:0030004,,,,,,OMIM ID:618830 +BMGC_DS18049,BMG_DS068871,QRSL1-related combined oxidative phosphorylation defect,UMLS ID:C5394232,QRSL1-related combined oxidative phosphorylation defect | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) | Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect,SNOMEDCT ID:1197430005,,,combined oxidative phosphorylation deficiency 40,MONDO:0030006,,,,,,OMIM ID:618835 +BMGC_DS18050,BMG_DS068872,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41,UMLS ID:C5394236,,,,,combined oxidative phosphorylation deficiency 41,MONDO:0030007,,,combined oxidative phosphorylation deficiency 41,DOID:0112119,,OMIM ID:618838 | OMIM ID:603645 +BMGC_DS18051,BMG_DS068873,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42,UMLS ID:C5394237,,,,,combined oxidative phosphorylation deficiency 42,MONDO:0030008,,,combined oxidative phosphorylation deficiency 42,DOID:0112118,,OMIM ID:618839 | OMIM ID:617210 +BMGC_DS18052,BMG_DS068874,ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4,UMLS ID:C5394241,,,,,alopecia-intellectual disability syndrome 4,MONDO:0030009,,,alopecia-mental retardation syndrome 4,DOID:0080950,,OMIM ID:600909 | OMIM ID:618840 +BMGC_DS18053,BMG_DS068875,HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA,UMLS ID:C5394246,,,,,hypogonadotropic hypogonadism 25 with anosmia,MONDO:0030010,,,,,,OMIM ID:616506 | OMIM ID:618841 +BMGC_DS18054,BMG_DS068876,"VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3",UMLS ID:C5394250,,,,,"vertebral, cardiac, renal, and limb defects syndrome 3",MONDO:0030077,,,,,,OMIM ID:608285 | OMIM ID:618845 +BMGC_DS18055,BMG_DS068877,DIETS-JONGMANS SYNDROME,UMLS ID:C5394263,,,,,Diets-Jongmans syndrome,MONDO:0030012,,,,,,OMIM ID:618846 | OMIM ID:609373 +BMGC_DS18056,BMG_DS068878,IMMUNODEFICIENCY 66,UMLS ID:C5394265,,,,,immunodeficiency 66,MONDO:0030013,,,immunodeficiency 66,DOID:0111998,,OMIM ID:606078 | OMIM ID:618847 +BMGC_DS18057,BMG_DS068879,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26",UMLS ID:C5394268,,,,,"muscular dystrophy, limb-girdle, autosomal recessive 26",MONDO:0030014,,,,,,OMIM ID:605824 | OMIM ID:618848 +BMGC_DS18058,BMG_DS068880,BONE MARROW FAILURE SYNDROME 6,UMLS ID:C5394274,,,,,bone marrow failure syndrome 6,MONDO:0030015,,,,,,OMIM ID:602704 | OMIM ID:618849 +BMGC_DS18059,BMG_DS068881,HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA,UMLS ID:C5394277,,,,,hypervalinemia and hyperleucine-isoleucinemia,MONDO:0100058,,,hypervalinemia and hyperleucine-isoleucinemia,DOID:0060950,,OMIM ID:113530 | OMIM ID:618850 +BMGC_DS18060,BMG_DS068882,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43,UMLS ID:C5394284,,,,,combined oxidative phosphorylation deficiency 43,MONDO:0030017,,,combined oxidative phosphorylation deficiency 43,DOID:0112116,,OMIM ID:607251 | OMIM ID:618851 +BMGC_DS18061,BMG_DS068883,,UMLS ID:C5394286,,,,,autoinflammation with episodic fever and lymphadenopathy,MONDO:0030018,,,,,,OMIM ID:618852 +BMGC_DS18062,BMG_DS068884,ANAUXETIC DYSPLASIA 3,UMLS ID:C5394289,,,,,anauxetic dysplasia 3,MONDO:0030019,,,anauxetic dysplasia 3,DOID:0080963,,OMIM ID:618853 | OMIM ID:617089 +BMGC_DS18063,BMG_DS068885,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44,UMLS ID:C5394293,,,,,combined oxidative phosphorylation deficiency 44,MONDO:0030020,,,combined oxidative phosphorylation deficiency 44,DOID:0070424,,OMIM ID:618855 | OMIM ID:612322 +BMGC_DS18064,BMG_DS068886,"DIABETES MELLITUS, PERMANENT NEONATAL, 2",UMLS ID:C5394296,,,,,"diabetes mellitus, permanent neonatal 2",MONDO:0030087,,,,,,OMIM ID:600937 | OMIM ID:618856 +BMGC_DS18065,BMG_DS068887,"DIABETES MELLITUS, PERMANENT NEONATAL, 3",UMLS ID:C5394303,,,,,"diabetes mellitus, permanent neonatal 3",MONDO:0030088,,,,,,OMIM ID:600509 | OMIM ID:618857 +BMGC_DS18066,BMG_DS068888,"DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2",UMLS ID:C5394304,,,,,"developmental delay, epilepsy, and neonatal diabetes 2",MONDO:0800376,,,,,,OMIM ID:618857 +BMGC_DS18067,BMG_DS068889,"DIABETES MELLITUS, PERMANENT NEONATAL, 4",UMLS ID:C5394307,,,,,"diabetes mellitus, permanent neonatal 4",MONDO:0030089,,,,,,OMIM ID:176730 | OMIM ID:618858 +BMGC_DS18068,BMG_DS068890,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES,UMLS ID:C5394311,,,,,neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities,MONDO:0030024,,,,,,OMIM ID:618859 +BMGC_DS18069,BMG_DS068891,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES",UMLS ID:C5394312,,,,,"neurodevelopmental disorder with hypotonia, microcephaly, and seizures",MONDO:0030025,,,,,,OMIM ID:618862 | OMIM ID:601218 +BMGC_DS18070,BMG_DS068892,RETINAL DYSTROPHY WITH LEUKODYSTROPHY,UMLS ID:C5394315,,,,,retinal dystrophy with leukodystrophy,MONDO:0030026,,,retinal dystrophy with leukodystrophy,DOID:0080946,,OMIM ID:616618 | OMIM ID:618863 +BMGC_DS18071,BMG_DS068893,"TREMOR, HEREDITARY ESSENTIAL, 6",UMLS ID:C5394329,,,,,"tremor, hereditary essential, 6",MONDO:0030027,,,essential tremor 6,DOID:0081295,,OMIM ID:618866 +BMGC_DS18072,BMG_DS068894,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE",UMLS ID:C5394335,,,,,"neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline",MONDO:0030028,,,,,,OMIM ID:618868 | OMIM ID:606105 +BMGC_DS18073,BMG_DS068895,"SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE",UMLS ID:C5394341,,,,,"skeletal dysplasia, mild, with joint laxity and advanced bone age",MONDO:0030029,,,,,,OMIM ID:618870 | OMIM ID:616615 +BMGC_DS18074,BMG_DS068896,NIZON-ISIDOR SYNDROME,UMLS ID:C5394350,,,,,Nizon-Isidor syndrome,MONDO:0030030,,,,,,OMIM ID:618872 | OMIM ID:611318 +BMGC_DS18075,BMG_DS068897,LISSENCEPHALY 10,UMLS ID:C5394354,,,,,lissencephaly 10,MONDO:0030031,,,lissencephaly 10,DOID:0112229,,OMIM ID:618873 | OMIM ID:618865 +BMGC_DS18076,BMG_DS068898,"SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS",UMLS ID:C5394359,,,,,"seizures, early-onset, with neurodegeneration and brain calcifications",MONDO:0030033,,,,,,OMIM ID:615322 | OMIM ID:618875 +BMGC_DS18077,BMG_DS068899,"EPILEPSY, PROGRESSIVE MYOCLONIC, 11",UMLS ID:C5394362,,,,,"epilepsy, progressive myoclonic, 11",MONDO:0030034,,,,,,OMIM ID:608873 | OMIM ID:618876 +BMGC_DS18078,BMG_DS068900,"LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME",UMLS ID:C5394367,,,,,"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome",MONDO:0030035,,,,,,OMIM ID:176871 | OMIM ID:618877 +BMGC_DS18079,BMG_DS068901,"LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME",UMLS ID:C5394371,,,,,"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome",MONDO:0030036,,,,,,OMIM ID:613635 | OMIM ID:618878 +BMGC_DS18080,BMG_DS068902,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES",UMLS ID:C5394372,,,,,"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures",MONDO:0030037,,,,,,OMIM ID:605087 | OMIM ID:618879 +BMGC_DS18081,BMG_DS068903,"GLAUCOMA, PRIMARY CLOSED-ANGLE",UMLS ID:C5394374,,,,,"glaucoma, primary closed-angle",MONDO:0030038,,,,,,OMIM ID:618880 +BMGC_DS18082,BMG_DS068904,Deficiency of galactose mutarotase,UMLS ID:C5394377,Galactosemia type 4 | Galactosaemia type 4 | GALM (galactose mutarotase) deficiency | Deficiency of galactose mutarotase | Deficiency of galactose mutarotase (disorder),SNOMEDCT ID:1187616008,,,galactosemia 4,MONDO:0030105,,,,,,OMIM ID:618881 +BMGC_DS18083,BMG_DS068905,"HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2",UMLS ID:C5394383,,,,,"hypoparathyroidism, familial isolated, 2",MONDO:0020798,,,,,,OMIM ID:618883 | OMIM ID:603716 +BMGC_DS18084,BMG_DS068906,,UMLS ID:C5394384,,,,,"proteinuria, chronic benign",MONDO:0030042,,,,,,OMIM ID:618884 +BMGC_DS18085,BMG_DS068907,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt",UMLS ID:C5394387,,,,,"congenital disorder of glycosylation, type iit",MONDO:0030043,,,,,,OMIM ID:602274 | OMIM ID:618885 +BMGC_DS18086,BMG_DS068908,PSEUDO-TORCH SYNDROME 3,UMLS ID:C5394391,,,,,pseudo-TORCH syndrome 3,MONDO:0030044,,,,,,OMIM ID:600556 | OMIM ID:618886 +BMGC_DS18087,BMG_DS068910,"Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome",UMLS ID:C5394404,"Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome | Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder) | Liberfarb syndrome",SNOMEDCT ID:1284851009,,,Liberfarb syndrome,MONDO:0030045,,,,,,OMIM ID:618889 +BMGC_DS18088,BMG_DS068911,NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY,UMLS ID:C5394423,,,,,neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity,MONDO:0030046,,,,,,OMIM ID:618890 +BMGC_DS18089,BMG_DS068912,"MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME",UMLS ID:C5394425,,,,,"microcephaly, developmental delay, and brittle hair syndrome",MONDO:0030047,,,,,,OMIM ID:123859 | OMIM ID:618891 +BMGC_DS18090,BMG_DS068913,"46,XX SEX REVERSAL 5",UMLS ID:C5394441,,,,,"46,xx sex reversal 5",MONDO:0030049,,,"46,XX sex reversal 5",DOID:0080943,,OMIM ID:618901 | OMIM ID:107773 +BMGC_DS18091,BMG_DS068914,SILVER-RUSSELL SYNDROME 2,UMLS ID:C5394446,,,,,silver-russell syndrome 2,MONDO:0030116,,,,,,OMIM ID:618905 +BMGC_DS18092,BMG_DS068915,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES",UMLS ID:C5394447,,,,,"intellectual developmental disorder with autistic features and language delay, with or without seizures",MONDO:0030051,,,"intellectual developmental disorder with autistic features and language delay, with or without seizures",DOID:0081430,,OMIM ID:618906 +BMGC_DS18093,BMG_DS068916,SILVER-RUSSELL SYNDROME 4,UMLS ID:C5394450,,,,,silver-russell syndrome 4,MONDO:0030118,,,,,,OMIM ID:618907 | OMIM ID:603026 +BMGC_DS18094,BMG_DS068917,SILVER-RUSSELL SYNDROME 5,UMLS ID:C5394456,,,,,Silver-Russell syndrome 5,MONDO:0020795,,,,,,OMIM ID:600698 | OMIM ID:618908 +BMGC_DS18095,BMG_DS068918,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86,UMLS ID:C5394462,,,,,"developmental and epileptic encephalopathy, 86",MONDO:0030054,,,developmental and epileptic encephalopathy 86,DOID:0112220,,OMIM ID:618910 | OMIM ID:618904 +BMGC_DS18096,BMG_DS068919,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 8",UMLS ID:C5394466,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 8",MONDO:0030055,,,autosomal recessive distal hereditary motor neuronopathy 8,DOID:0081427,,OMIM ID:182500 | OMIM ID:618912 +BMGC_DS18097,BMG_DS068920,FANCONI RENOTUBULAR SYNDROME 5,UMLS ID:C5394473,,,,,Fanconi renotubular syndrome 5,MONDO:0030056,,,Fanconi renotubular syndrome 5,DOID:0080761,,OMIM ID:612392 | OMIM ID:618913 +BMGC_DS18098,BMG_DS068921,"NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME",UMLS ID:C5394477,,,,,"neurodevelopmental, jaw, eye, and digital syndrome",MONDO:0030057,,,,,,OMIM ID:618914 | OMIM ID:605651 +BMGC_DS18099,BMG_DS068922,"DEAFNESS, AUTOSOMAL DOMINANT 77",UMLS ID:C5394499,,,,,"hearing loss, autosomal dominant 77",MONDO:0030058,,,autosomal dominant nonsyndromic deafness 77,DOID:0112168,,OMIM ID:618915 | OMIM ID:158343 +BMGC_DS18100,BMG_DS068923,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87,UMLS ID:C5394501,,,,,"developmental and epileptic encephalopathy, 87",MONDO:0030059,,,developmental and epileptic encephalopathy 87,DOID:0112221,,OMIM ID:614720 | OMIM ID:618916 +BMGC_DS18101,BMG_DS068924,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5394502,,,,,neurodevelopmental disorder with language impairment and behavioral abnormalities,MONDO:0030060,,,,,,OMIM ID:138247 | OMIM ID:618917 +BMGC_DS18102,BMG_DS068925,PERIVENTRICULAR NODULAR HETEROTOPIA 9,UMLS ID:C5394503,,,,,periventricular nodular heterotopia 9,MONDO:0030061,,,,,,OMIM ID:157129 | OMIM ID:618918 +BMGC_DS18103,BMG_DS068926,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14",UMLS ID:C5394505,,,,,"arrhythmogenic right ventricular dysplasia, familial, 14",MONDO:0030062,,,arrhythmogenic right ventricular dysplasia 14,DOID:0080959,,OMIM ID:618920 | OMIM ID:114020 +BMGC_DS18104,BMG_DS068927,"NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES",UMLS ID:C5394517,,,,,"neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",MONDO:0030063,,,,,,OMIM ID:618922 | OMIM ID:604101 +BMGC_DS18105,BMG_DS068928,"EPISODIC ATAXIA, TYPE 9",UMLS ID:C5394520,,,,,"episodic ataxia, type 9",MONDO:0030064,,,episodic ataxia type 9,DOID:0060965,,OMIM ID:618924 | OMIM ID:182390 +BMGC_DS18106,BMG_DS068929,"AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME",UMLS ID:C5394523,,,,,"agenesis of corpus callosum, cardiac, ocular, and genital syndrome",MONDO:0030065,,,"agenesis of corpus callosum, cardiac, ocular, and genital syndrome",DOID:0080948,,OMIM ID:618929 | OMIM ID:114020 +BMGC_DS18107,BMG_DS068930,"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5",UMLS ID:C5394542,,,,,"granulomatous disease, chronic, autosomal recessive, 5",MONDO:0030066,,,autosomal recessive chronic granulomatous disease 5,DOID:0070368,,OMIM ID:618334 | OMIM ID:618935 +BMGC_DS18108,BMG_DS068931,TREACHER COLLINS SYNDROME 4,UMLS ID:C5394546,,,,,Treacher Collins syndrome 4,MONDO:0030067,,,Treacher Collins syndrome 4,DOID:0080792,,OMIM ID:618939 | OMIM ID:602000 +BMGC_DS18109,BMG_DS068932,,UMLS ID:C5394548,,,,,oculopharyngodistal myopathy 2,MONDO:0030134,,,,,,OMIM ID:618940 +BMGC_DS18110,BMG_DS068933,"HYPER-IgE SYNDROME 5, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS",UMLS ID:C5394550,,,,,"hyper-IgE recurrent infection syndrome 5, autosomal recessive",MONDO:0030069,,,,,,OMIM ID:618944 | OMIM ID:147880 +BMGC_DS18111,BMG_DS068934,"HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY",UMLS ID:C5394551,,,,,"heterotaxy, visceral, 9, autosomal, with male infertility",MONDO:0030070,,,,,,OMIM ID:618948 | OMIM ID:610766 +BMGC_DS18112,BMG_DS068935,RETINITIS PIGMENTOSA 89,UMLS ID:C5394552,,,,,retinitis pigmentosa 89,MONDO:0030071,,,retinitis pigmentosa 89,DOID:0112146,,OMIM ID:618955 | OMIM ID:603754 +BMGC_DS18113,BMG_DS068936,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88,UMLS ID:C5394553,,,,,"developmental and epileptic encephalopathy, 88",MONDO:0030072,,,developmental and epileptic encephalopathy 88,DOID:0112222,,OMIM ID:154200 | OMIM ID:618959 +BMGC_DS18114,BMG_DS068937,,UMLS ID:C5394554,,,,,Mitchell syndrome,MONDO:0030073,,,Mitchell syndrome,DOID:0070516,,OMIM ID:618960 +BMGC_DS18115,BMG_DS068938,"Spondylometaphyseal dysplasia, corneal dystrophy syndrome",UMLS ID:C5394555,"Spondylometaphyseal dysplasia, corneal dystrophy syndrome | Spondylometaphyseal dysplasia, corneal dystrophy syndrome (disorder)",SNOMEDCT ID:1269226006,,,spondylometaphyseal dysplasia with corneal dystrophy,MONDO:0030074,,,,,,OMIM ID:618961 +BMGC_DS18116,BMG_DS068968,"CHROMOSOME 1p36.33 DELETION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL RECESSIVE",UMLS ID:C5394596,,,,,,,,,"neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome",DOID:0081396,,OMIM ID:618810 +BMGC_DS18117,BMG_DS068969,"DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1",UMLS ID:C5394597,,,,,"developmental delay, epilepsy, and neonatal diabetes 1",MONDO:0800375,,,,,,OMIM ID:618856 +BMGC_DS18118,BMG_DS068972,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,UMLS ID:C5394674,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (disorder),SNOMEDCT ID:829973009,,,autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,MONDO:0017992,,,,,, +BMGC_DS18119,BMG_DS069019,,UMLS ID:C5395080,,,,,acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),MONDO:0020316,,,,,, +BMGC_DS18120,BMG_DS069445,Pelizaeus Merzbacher like disease due to AIMP1 mutation,UMLS ID:C5396702,Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder) | Pelizaeus Merzbacher like disease due to AIMP1 mutation,SNOMEDCT ID:870286003,,,,,,,,,, +BMGC_DS18121,BMG_DS069651,Cerebro-oculo-facio-skeletal syndrome,UMLS ID:C5399761,Cerebro-oculo-facio-skeletal syndrome | COFS syndrome | Cerebro-oculo-facio-skeletal syndrome (disorder) | CAMAK - Cerebro-oculo-facio-skeletal syndrome | CAMFAK - Cerebro-oculo-facio-skeletal syndrome | COFS - Cerebro-oculo-facio-skeletal syndrome | Pena-Shokeir syndrome type 2,SNOMEDCT ID:41283003,,,COFS syndrome,MONDO:0008926,,,,,, +BMGC_DS18122,BMG_DS069652,,UMLS ID:C5399762,,,,,FG syndrome 1,MONDO:0010590,,,,,,OMIM ID:305450 +BMGC_DS18123,BMG_DS069653,mismatch repair cancer syndrome 1,UMLS ID:C5399763,,,,,mismatch repair cancer syndrome 1,MONDO:0010159,,MeSH ID:C536928,,,,OMIM ID:276300 +BMGC_DS18124,BMG_DS069656,Mandibuloacral dysplasia with type A lipodystrophy,UMLS ID:C5399785,Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) | Mandibuloacral dysostosis co-occurrent with type A lipodystrophy | Mandibuloacral dysplasia with type A lipodystrophy,SNOMEDCT ID:1003431005,,,mandibuloacral dysplasia with type A lipodystrophy,MONDO:0009557,,MeSH ID:C535705,,,,OMIM ID:248370 +BMGC_DS18125,BMG_DS069659,"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1",UMLS ID:C5399825,,,,,X-linked lymphoproliferative disease due to SH2D1A deficiency,MONDO:0024551,,,,,,OMIM ID:308240 | OMIM ID:300490 +BMGC_DS18126,BMG_DS069660,"Familial Mediterranean Fever, Autosomal Recessive",UMLS ID:C5399837,,,,,,,Familial Mediterranean Fever,MeSH ID:D010505,,,, +BMGC_DS18127,BMG_DS069661,,UMLS ID:C5399870,,,,,Sugarman brachydactyly,MONDO:0010087,,,,,,OMIM ID:272150 +BMGC_DS18128,BMG_DS069662,X-linked scapuloperoneal muscular dystrophy,UMLS ID:C5399872,X-linked scapuloperoneal muscular dystrophy (disorder) | X-linked scapuloperoneal muscular dystrophy | X-linked scapuloperoneal syndrome,SNOMEDCT ID:784352007,,,,,,,,,, +BMGC_DS18129,BMG_DS069664,Brachyolmia Type 2,UMLS ID:C5399913,,,,,"brachyolmia, Maroteaux type",MONDO:0013360,,MeSH ID:C563218,,,,OMIM ID:613678 +BMGC_DS18130,BMG_DS069665,,UMLS ID:C5399921,,,,,,,,,gallbladder papillary carcinoma,DOID:7221,, +BMGC_DS18131,BMG_DS069666,FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1,UMLS ID:C5399970,,,,,facioscapulohumeral muscular dystrophy 1,MONDO:0008030,,,facioscapulohumeral muscular dystrophy 1,DOID:0111192,,OMIM ID:158900 +BMGC_DS18132,BMG_DS069667,"IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME",UMLS ID:C5399971,,,,,"IFAP syndrome 1, with or without BRESHECK syndrome",MONDO:0100213,,,,,,OMIM ID:308205 +BMGC_DS18133,BMG_DS069668,Periventricular heterotopia,UMLS ID:C5399973,,,,,,,,,,,,OMIM ID:MTHU022782 +BMGC_DS18134,BMG_DS069669,"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1",UMLS ID:C5399974,,,,,autosomal recessive Robinow syndrome,MONDO:0009999,,,autosomal recessive Robinow syndrome,DOID:0060764,,OMIM ID:268310 | OMIM ID:602337 +BMGC_DS18135,BMG_DS069670,"MYOPATHY, DISTAL, WITH RIMMED VACUOLES",UMLS ID:C5399975,,,,,"myopathy, distal, with rimmed vacuoles",MONDO:0014945,,,distal myopathy with rimmed vacuoles,DOID:0081363,,OMIM ID:601530 | OMIM ID:617158 +BMGC_DS18136,BMG_DS069671,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2",UMLS ID:C5399977,,,,,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",MONDO:0011451,,,mitochondrial complex IV deficiency nuclear type 2,DOID:0080357,,OMIM ID:604272 | OMIM ID:604377 +BMGC_DS18137,BMG_DS069672,"RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS",UMLS ID:C5399980,,,,,"renal tubular acidosis, distal, 3, with or without sensorineural hearing loss",MONDO:0011268,,,,,,OMIM ID:605239 | OMIM ID:602722 +BMGC_DS18138,BMG_DS069680,,UMLS ID:C5400698,,,,,pulmonary alveolar proteinosis,MONDO:0001437,,,,,, +BMGC_DS18139,BMG_DS069683,17q11 deletion syndrome,UMLS ID:C5401456,17q11 deletion syndrome (disorder) | 17q11 deletion syndrome | Neurofibromatosis type 1 microdeletion syndrome | Monosomy 17q11 | Chromosome 17q11.2 deletion syndrome,SNOMEDCT ID:880093002,,,"chromosome 17q11.2 deletion syndrome, 1.4Mb",MONDO:0013357,,,,,,OMIM ID:613675 +BMGC_DS18140,BMG_DS069688,,UMLS ID:C5421232,,,,,,,,,parapharyngeal meningioma,DOID:8216,, +BMGC_DS18141,BMG_DS069704,OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES,UMLS ID:C5435585,,,,,optic atrophy 13 with retinal and foveal abnormalities,MONDO:0008135,,,,,,OMIM ID:165510 | OMIM ID:600439 +BMGC_DS18142,BMG_DS069705,"MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2",UMLS ID:C5435648,,,,,"microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2",MONDO:0800296,,,,,,OMIM ID:193220 | OMIM ID:607854 +BMGC_DS18143,BMG_DS069706,"ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE",UMLS ID:C5435650,,,,,"arthrogryposis multiplex congenita 2, neurogenic type",MONDO:0008823,,,,,,OMIM ID:208100 | OMIM ID:617946 +BMGC_DS18144,BMG_DS069707,COACH SYNDROME 1,UMLS ID:C5435651,,,,,COACH syndrome 1,MONDO:0800103,,,,,,OMIM ID:609884 | OMIM ID:216360 +BMGC_DS18145,BMG_DS069708,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1",UMLS ID:C5435656,,,,,"mitochondrial complex IV deficiency, nuclear type 1",MONDO:0700250,,,mitochondrial complex IV deficiency nuclear type 1,DOID:0070491,,OMIM ID:220110 | OMIM ID:185620 +BMGC_DS18146,BMG_DS069709,TYPE 1 DIABETES MELLITUS 1,UMLS ID:C5435660,,,,,type 1 diabetes mellitus 1,MONDO:0009100,,,,,,OMIM ID:222100 +BMGC_DS18147,BMG_DS069710,PALLISTER-HALL-LIKE SYNDROME,UMLS ID:C5435677,,,,,,,,,,,,OMIM ID:241800 | OMIM ID:601500 +BMGC_DS18148,BMG_DS069711,"GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE",UMLS ID:C5435698,,,,,"growth hormone insensitivity with immune dysregulation 1, autosomal recessive",MONDO:0100211,,,growth hormone insensitivity syndrome with immune dysregulation 1,DOID:0080836,,OMIM ID:604260 | OMIM ID:245590 +BMGC_DS18149,BMG_DS069712,"IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED",UMLS ID:C5435745,,,,,"immunodeficiency 74, COVID-19-related, X-linked",MONDO:0026767,,,X-Linked immunodeficiency 74,DOID:0112063,,OMIM ID:301051 +BMGC_DS18150,BMG_DS069713,VEXAS syndrome,UMLS ID:C5435753,"VEXAS syndrome | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (disorder) | Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome",SNOMEDCT ID:1290093003,,,VEXAS syndrome,MONDO:0026777,,MeSH ID:C000721467,,,,OMIM ID:301054 +BMGC_DS18151,BMG_DS069714,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1",UMLS ID:C5435765,,,,,"Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1",MONDO:0025622,,,,,,OMIM ID:500013 | OMIM ID:590105 +BMGC_DS18152,BMG_DS069716,"46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY",UMLS ID:C5436061,,,,,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",MONDO:0011766,,,,,,OMIM ID:605423 | OMIM ID:607080 +BMGC_DS18153,BMG_DS069718,"RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA",UMLS ID:C5436235,,,,,"renal tubular acidosis, distal, 4, with hemolytic anemia",MONDO:0012700,,,,,,OMIM ID:109270 | OMIM ID:611590 +BMGC_DS18154,BMG_DS069719,RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1,UMLS ID:C5436276,,,,,Rajab interstitial lung disease with brain calcifications 1,MONDO:0100215,,,,,,OMIM ID:618007 | OMIM ID:613658 | OMIM ID:609690 | OMIM ID:613658 +BMGC_DS18155,BMG_DS069720,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6,UMLS ID:C5436279,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 6,MONDO:0013501,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 6,DOID:0060205,,OMIM ID:613954 | OMIM ID:601023 +BMGC_DS18156,BMG_DS069721,"MENTAL RETARDATION, AUTOSOMAL DOMINANT 25, FORMERLY",UMLS ID:C5436345,,,,,,,,,Xia-Gibbs Syndrome,DOID:0070055,,OMIM ID:615829 +BMGC_DS18157,BMG_DS069722,ARTHROGRYPOSIS MULTIPLEX CONGENITA 5,UMLS ID:C5436453,,,,,arthrogryposis multiplex congenita 5,MONDO:0100218,,,arthrogryposis multiplex congenita-5,DOID:0080981,,OMIM ID:605204 | OMIM ID:618947 +BMGC_DS18158,BMG_DS069723,SULEIMAN-EL-HATTAB SYNDROME,UMLS ID:C5436458,,,,,Suleiman-El-Hattab syndrome,MONDO:0033532,,,,,,OMIM ID:608270 | OMIM ID:618950 +BMGC_DS18159,BMG_DS069724,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45,UMLS ID:C5436461,,,,,combined oxidative phosphorylation deficiency 45,MONDO:0033533,,,combined oxidative phosphorylation deficiency 45,DOID:0112113,,OMIM ID:618951 | OMIM ID:602375 +BMGC_DS18160,BMG_DS069725,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46,UMLS ID:C5436466,,,,,combined oxidative phosphorylation deficiency 46,MONDO:0033534,,,combined oxidative phosphorylation deficiency 46,DOID:0112115,,OMIM ID:611985 | OMIM ID:618952 +BMGC_DS18161,BMG_DS069726,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47,UMLS ID:C5436476,,,,,combined oxidative phosphorylation deficiency 47,MONDO:0033537,,,combined oxidative phosphorylation deficiency 47,DOID:0112114,,OMIM ID:611990 | OMIM ID:618958 +BMGC_DS18162,BMG_DS069727,IMMUNODEFICIENCY 69,UMLS ID:C5436498,,,,,immunodeficiency 69,MONDO:0033541,,,immunodeficiency 69,DOID:0112006,,OMIM ID:618963 | OMIM ID:147570 +BMGC_DS18163,BMG_DS069728,IMMUNODEFICIENCY 70,UMLS ID:C5436501,,,,,immunodeficiency 70,MONDO:0033542,,,immunodeficiency 70,DOID:0112005,,OMIM ID:609209 | OMIM ID:618969 +BMGC_DS18164,BMG_DS069729,"CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE",UMLS ID:C5436505,,,,,"cone-rod synaptic disorder syndrome, congenital nonprogressive",MONDO:0033543,,,,,,OMIM ID:606630 | OMIM ID:618970 +BMGC_DS18165,BMG_DS069730,TOLCHIN-LE CAIGNEC SYNDROME,UMLS ID:C5436509,,,,,Tolchin-Le Caignec syndrome,MONDO:0033544,,,,,,OMIM ID:607257 | OMIM ID:618971 +BMGC_DS18166,BMG_DS069731,MITOCHONDRIAL DNA DEPLETION SYNDROME 19,UMLS ID:C5436514,,,,,mitochondrial DNA depletion syndrome 19,MONDO:0033545,,,mitochondrial DNA depletion syndrome 19,DOID:0070450,,OMIM ID:618972 | OMIM ID:606794 +BMGC_DS18167,BMG_DS069732,SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY,UMLS ID:C5436520,,,,,"neurodegeneration, infantile-onset, biotin-responsive",MONDO:0033546,,,,,,OMIM ID:618973 | OMIM ID:604024 +BMGC_DS18168,BMG_DS069733,LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME,UMLS ID:C5436525,,,,,Li-Ghorbani-Weisz-Hubshman syndrome,MONDO:0033547,,,,,,OMIM ID:618974 | OMIM ID:609912 +BMGC_DS18169,BMG_DS069734,"MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES",UMLS ID:C5436530,,,,,"myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies",MONDO:0033548,,,congenital myopathy 17,DOID:0081349,,OMIM ID:618975 +BMGC_DS18170,BMG_DS069735,OPTIC ATROPHY 12,UMLS ID:C5436534,,,,,optic atrophy 12,MONDO:0033549,,,optic atrophy 12,DOID:0080840,,OMIM ID:604581 | OMIM ID:618977 +BMGC_DS18171,BMG_DS069736,IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION,UMLS ID:C5436540,,,,,immunodeficiency 72 with autoinflammation,MONDO:0033551,,,immunodeficiency 72,DOID:0112015,,OMIM ID:141180 | OMIM ID:618982 +BMGC_DS18172,BMG_DS069737,"GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT",UMLS ID:C5436546,,,,,"growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",MONDO:0100219,,,growth hormone insensitivity syndrome with immune dysregulation 2,DOID:0080837,,OMIM ID:618985 | OMIM ID:604260 +BMGC_DS18173,BMG_DS069738,IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA,UMLS ID:C5436549,,,,,immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia,MONDO:0033554,,,immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia,DOID:0112061,,OMIM ID:618986 | OMIM ID:602049 +BMGC_DS18174,BMG_DS069739,IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA,UMLS ID:C5436550,,,,,immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,MONDO:0033555,,,immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,DOID:0112062,,OMIM ID:602049 | OMIM ID:618987 +BMGC_DS18175,BMG_DS069740,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15",UMLS ID:C5436552,,,,,"muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15",MONDO:0033556,,,muscular dystrophy-dystroglycanopathy type B15,DOID:0112376,,OMIM ID:605951 | OMIM ID:618992 +BMGC_DS18176,BMG_DS069741,IMMUNE DYSREGULATION AND SYSTEMIC HYPERINFLAMMATION SYNDROME,UMLS ID:C5436563,,,,,"hemophagocytic lymphohistiocytosis, familial, 6",MONDO:0033557,,,,,,OMIM ID:609424 | OMIM ID:618998 +BMGC_DS18177,BMG_DS069742,"AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA",UMLS ID:C5436572,,,,,"autoinflammation, immune dysregulation, and eosinophilia",MONDO:0033558,,,,,,OMIM ID:147795 | OMIM ID:618999 +BMGC_DS18178,BMG_DS069743,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY,UMLS ID:C5436574,,,,,intellectual developmental disorder with seizures and language delay,MONDO:0033559,,,,,,OMIM ID:611055 | OMIM ID:619000 +BMGC_DS18179,BMG_DS069744,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35",UMLS ID:C5436576,,,,,"mitochondrial complex 1 deficiency, nuclear type 35",MONDO:0033560,,,nuclear type mitochondrial complex I deficiency 35,DOID:0112139,,OMIM ID:619003 | OMIM ID:603843 +BMGC_DS18180,BMG_DS069745,DEEAH SYNDROME,UMLS ID:C5436579,,,,,deeah syndrome,MONDO:0033561,,,,,,OMIM ID:603584 | OMIM ID:619004 +BMGC_DS18181,BMG_DS069746,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA",UMLS ID:C5436585,,,,,"neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",MONDO:0033562,,,,,,OMIM ID:603584 | OMIM ID:619005 +BMGC_DS18182,BMG_DS069747,RETINITIS PIGMENTOSA 90,UMLS ID:C5436588,,,,,retinitis pigmentosa 90,MONDO:0033563,,,retinitis pigmentosa 90,DOID:0112147,,OMIM ID:619007 | OMIM ID:601149 +BMGC_DS18183,BMG_DS069748,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 8,UMLS ID:C5436597,,,,,oocyte maturation defect 8,MONDO:0033564,,,,,,OMIM ID:605673 | OMIM ID:619009 +BMGC_DS18184,BMG_DS069749,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9,UMLS ID:C5436599,,,,,oocyte maturation defect 9,MONDO:0033565,,,,,,OMIM ID:619011 | OMIM ID:604507 +BMGC_DS18185,BMG_DS069750,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48,UMLS ID:C5436602,,,,,combined oxidative phosphorylation deficiency 48,MONDO:0033566,,,combined oxidative phosphorylation deficiency 48,DOID:0112112,,OMIM ID:619012 | OMIM ID:617491 +BMGC_DS18186,BMG_DS069751,RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2,UMLS ID:C5436603,,,,,Rajab interstitial lung disease with brain calcifications 2,MONDO:0100220,,,,,,OMIM ID:602918 | OMIM ID:619013 +BMGC_DS18187,BMG_DS069752,IFAP SYNDROME 2,UMLS ID:C5436607,,,,,IFAP syndrome 2,MONDO:0100221,,,,,,OMIM ID:619016 | OMIM ID:184756 +BMGC_DS18188,BMG_DS069753,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49,UMLS ID:C5436616,,,,,combined oxidative phosphorylation deficiency 49,MONDO:0033569,,,combined oxidative phosphorylation deficiency 49,DOID:0112110,,OMIM ID:619024 | OMIM ID:615498 +BMGC_DS18189,BMG_DS069754,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50,UMLS ID:C5436623,,,,,combined oxidative phosphorylation deficiency 50,MONDO:0033570,,,combined oxidative phosphorylation deficiency 50,DOID:0112111,,OMIM ID:619025 | OMIM ID:611987 +BMGC_DS18190,BMG_DS069755,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES,UMLS ID:C5436628,,,,,neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities,MONDO:0033613,,,,,,OMIM ID:618994 | OMIM ID:619026 | OMIM ID:603513 | OMIM ID:619026 +BMGC_DS18191,BMG_DS069756,"SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE",UMLS ID:C5436637,,,,,"spastic paraplegia 83, autosomal recessive",MONDO:0033614,,,hereditary spastic paraplegia 83,DOID:0112346,,OMIM ID:618994 | OMIM ID:619027 +BMGC_DS18192,BMG_DS069757,"COENZYME Q10 DEFICIENCY, PRIMARY, 9",UMLS ID:C5436638,,,,,"coenzyme q10 deficiency, primary, 9",MONDO:0033615,,,primary coenzyme Q10 deficiency 9,DOID:0112138,,OMIM ID:619028 | OMIM ID:616359 +BMGC_DS18193,BMG_DS069758,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES",UMLS ID:C5436646,,,,,"intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies",MONDO:0033572,,,,,,OMIM ID:619031 | OMIM ID:612866 +BMGC_DS18194,BMG_DS069759,VISSERS-BODMER SYNDROME,UMLS ID:C5436647,,,,,Vissers-Bodmer syndrome,MONDO:0033618,,,Vissers-Bodmer syndrome,DOID:0081397,,OMIM ID:604917 | OMIM ID:619033 +BMGC_DS18195,BMG_DS069760,"MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY",UMLS ID:C5436652,,,,,"myopathy, epilepsy, and progressive cerebral atrophy",MONDO:0033619,,,,,,OMIM ID:612866 | OMIM ID:619036 +BMGC_DS18196,BMG_DS069761,MYOFIBRILLAR MYOPATHY 10,UMLS ID:C5436656,,,,,myofibrillar myopathy 10,MONDO:0033620,,,myofibrillar myopathy 10,DOID:0112108,,OMIM ID:619040 | OMIM ID:604126 +BMGC_DS18197,BMG_DS069762,MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2,UMLS ID:C5436668,,,,,monosomy 7 myelodysplasia and leukemia syndrome 2,MONDO:0030801,,,,,,OMIM ID:619041 | OMIM ID:610456 +BMGC_DS18198,BMG_DS069763,"SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE",UMLS ID:C5436669,,,,,"spinal muscular atrophy, infantile, James type",MONDO:0033621,,,,,,OMIM ID:619042 | OMIM ID:600287 +BMGC_DS18199,BMG_DS069764,SPERMATOGENIC FAILURE 44,UMLS ID:C5436678,,,,,spermatogenic failure 44,MONDO:0033622,,,spermatogenic failure 44,DOID:0112109,,OMIM ID:619044 | OMIM ID:618980 +BMGC_DS18200,BMG_DS069765,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3",UMLS ID:C5436682,,,,,"mitochondrial complex 4 deficiency, nuclear type 3",MONDO:0033635,,,mitochondrial complex IV deficiency nuclear type 3,DOID:0070492,,OMIM ID:602125 | OMIM ID:619046 +BMGC_DS18201,BMG_DS069766,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4",UMLS ID:C5436683,,,,,"mitochondrial complex 4 deficiency, nuclear type 4",MONDO:0033636,,,mitochondrial complex IV deficiency nuclear type 4,DOID:0070493,,OMIM ID:603644 | OMIM ID:619048 +BMGC_DS18202,BMG_DS069767,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7",UMLS ID:C5436685,,,,,"mitochondrial complex 4 deficiency, nuclear type 7",MONDO:0033637,,,mitochondrial complex IV deficiency nuclear type 7,DOID:0070494,,OMIM ID:124089 | OMIM ID:619051 +BMGC_DS18203,BMG_DS069768,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8",UMLS ID:C5436689,,,,,"mitochondrial complex 4 deficiency, nuclear type 8",MONDO:0033638,,,mitochondrial complex IV deficiency nuclear type 8,DOID:0070495,,OMIM ID:619052 | OMIM ID:612958 +BMGC_DS18204,BMG_DS069769,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10",UMLS ID:C5436692,,,,,"mitochondrial complex 4 deficiency, nuclear type 10",MONDO:0033639,,,mitochondrial complex IV deficiency nuclear type 10,DOID:0070496,,OMIM ID:614478 | OMIM ID:619053 +BMGC_DS18205,BMG_DS069770,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11",UMLS ID:C5436694,,,,,"mitochondrial complex 4 deficiency, nuclear type 11",MONDO:0033645,,,mitochondrial complex IV deficiency nuclear type 11,DOID:0070497,,OMIM ID:614698 | OMIM ID:619054 +BMGC_DS18206,BMG_DS069771,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12",UMLS ID:C5436695,,,,,"mitochondrial complex 4 deficiency, nuclear type 12",MONDO:0033646,,,mitochondrial complex IV deficiency nuclear type 12,DOID:0070498,,OMIM ID:614770 | OMIM ID:619055 +BMGC_DS18207,BMG_DS069772,NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES,UMLS ID:C5436699,,,,,neurodevelopmental disorder with speech impairment and dysmorphic facies,MONDO:0033630,,,neurodevelopmental disorder with speech impairment and dysmorphic facies,DOID:0070417,,OMIM ID:611052 | OMIM ID:619056 +BMGC_DS18208,BMG_DS069773,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51,UMLS ID:C5436703,,,,,combined oxidative phosphorylation deficiency 51,MONDO:0033631,,,combined oxidative phosphorylation deficiency 51,DOID:0112137,,OMIM ID:614918 | OMIM ID:619057 +BMGC_DS18209,BMG_DS069774,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14",UMLS ID:C5436710,,,,,"mitochondrial complex 4 deficiency, nuclear type 14",MONDO:0033649,,,mitochondrial complex IV deficiency nuclear type 14,DOID:0070499,,OMIM ID:614775 | OMIM ID:619058 +BMGC_DS18210,BMG_DS069775,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15",UMLS ID:C5436712,,,,,"mitochondrial complex 4 deficiency, nuclear type 15",MONDO:0033650,,,mitochondrial complex IV deficiency nuclear type 15,DOID:0070500,,OMIM ID:123870 | OMIM ID:619059 +BMGC_DS18211,BMG_DS069776,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16",UMLS ID:C5436714,,,,,"mitochondrial complex 4 deficiency, nuclear type 16",MONDO:0033651,,,mitochondrial complex IV deficiency nuclear type 16,DOID:0070501,,OMIM ID:619060 | OMIM ID:123864 +BMGC_DS18212,BMG_DS069777,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17",UMLS ID:C5436718,,,,,"mitochondrial complex 4 deficiency, nuclear type 17",MONDO:0033652,,,mitochondrial complex IV deficiency nuclear type 17,DOID:0070502,,OMIM ID:619061 | OMIM ID:616003 +BMGC_DS18213,BMG_DS069778,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18",UMLS ID:C5436720,,,,,"mitochondrial complex 4 deficiency, nuclear type 18",MONDO:0033653,,,mitochondrial complex IV deficiency nuclear type 18,DOID:0070503,,OMIM ID:619062 | OMIM ID:602009 +BMGC_DS18214,BMG_DS069779,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19",UMLS ID:C5436723,,,,,"mitochondrial complex 4 deficiency, nuclear type 19",MONDO:0033654,,,mitochondrial complex IV deficiency nuclear type 19,DOID:0070504,,OMIM ID:614771 | OMIM ID:619063 +BMGC_DS18215,BMG_DS069780,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20",UMLS ID:C5436726,,,,,"mitochondrial complex 4 deficiency, nuclear type 20",MONDO:0033655,,,mitochondrial complex IV deficiency nuclear type 20,DOID:0070505,,OMIM ID:603773 | OMIM ID:619064 +BMGC_DS18216,BMG_DS069781,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21",UMLS ID:C5436727,,,,,"mitochondrial complex 4 deficiency, nuclear type 21",MONDO:0033656,,,mitochondrial complex IV deficiency nuclear type 21,DOID:0070506,,OMIM ID:603833 | OMIM ID:619065 +BMGC_DS18217,BMG_DS069782,"LEUKODYSTROPHY, HYPOMYELINATING, 20",UMLS ID:C5436730,,,,,"leukodystrophy, hypomyelinating, 20",MONDO:0033657,,,hypomyelinating leukodystrophy 20,DOID:0112153,,OMIM ID:123830 | OMIM ID:619071 +BMGC_DS18218,BMG_DS069783,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY,UMLS ID:C5436732,,,,,neurodevelopmental disorder with seizures and brain atrophy,MONDO:0033658,,,,,,OMIM ID:608163 | OMIM ID:619072 +BMGC_DS18219,BMG_DS069784,"VITAMIN D-DEPENDENT RICKETS, TYPE 3",UMLS ID:C5436733,,,,,"vitamin D-dependent rickets, type 3",MONDO:0033640,,,,,,OMIM ID:619073 | OMIM ID:124010 +BMGC_DS18220,BMG_DS069785,"CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY",UMLS ID:C5436739,,,,,"cleft palate, proliferative retinopathy, and developmental delay",MONDO:0033641,,,,,,OMIM ID:137207 | OMIM ID:619074 +BMGC_DS18221,BMG_DS069786,"Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome",UMLS ID:C5436741,"Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) | Bachmann Bupp syndrome | Ornithine decarboxylase deficiency",SNOMEDCT ID:1222658006,,,neurodevelopmental disorder with alopecia and brain abnormalities,MONDO:0033642,,,,,,OMIM ID:619075 +BMGC_DS18222,BMG_DS069787,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY",UMLS ID:C5436747,,,,,"neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",MONDO:0033662,,,,,,OMIM ID:615283 | OMIM ID:619076 +BMGC_DS18223,BMG_DS069788,INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30,UMLS ID:C5436750,,,,,inflammatory bowel disease 30,MONDO:0033643,,,inflammatory bowel disease 30,DOID:0112154,,OMIM ID:609051 | OMIM ID:619079 +BMGC_DS18224,BMG_DS069789,KILQUIST SYNDROME,UMLS ID:C5436756,,,,,Kilquist syndrome,MONDO:0033664,,,,,,OMIM ID:619080 | OMIM ID:600840 +BMGC_DS18225,BMG_DS069790,"DEAFNESS, AUTOSOMAL DOMINANT 78",UMLS ID:C5436768,,,,,"hearing loss, autosomal dominant 78",MONDO:0033665,,,autosomal dominant nonsyndromic deafness 78,DOID:0112159,,OMIM ID:600840 | OMIM ID:619081 +BMGC_DS18226,BMG_DS069791,"MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1",UMLS ID:C5436769,,,,,"microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",MONDO:0033644,,,,,,OMIM ID:619082 | OMIM ID:601175 +BMGC_DS18227,BMG_DS069792,DELPIRE-MCNEILL SYNDROME,UMLS ID:C5436771,,,,,Delpire-McNeill syndrome,MONDO:0033667,,,,,,OMIM ID:619083 | OMIM ID:600840 +BMGC_DS18228,BMG_DS069793,"DEAFNESS, AUTOSOMAL DOMINANT 79",UMLS ID:C5436772,,,,,"hearing loss, autosomal dominant 79",MONDO:0033668,,,autosomal dominant nonsyndromic deafness 79,DOID:0112160,,OMIM ID:608370 | OMIM ID:619086 +BMGC_DS18229,BMG_DS069794,NOONAN SYNDROME 13,UMLS ID:C5436773,,,,,Noonan syndrome 13,MONDO:0033669,,,Noonan syndrome 13,DOID:0112161,,OMIM ID:176948 | OMIM ID:619087 +BMGC_DS18230,BMG_DS069795,"DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY",UMLS ID:C5436781,,,,,"developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy",MONDO:0030835,,,,,,OMIM ID:619090 | OMIM ID:616661 +BMGC_DS18231,BMG_DS069796,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES",UMLS ID:C5436783,,,,,"neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities",MONDO:0100348,,,,,,OMIM ID:108410 | OMIM ID:619091 +BMGC_DS18232,BMG_DS069797,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES",UMLS ID:C5436788,,,,,"neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities",MONDO:0030837,,,,,,OMIM ID:108410 | OMIM ID:619092 +BMGC_DS18233,BMG_DS069798,"DEAFNESS, AUTOSOMAL RECESSIVE 116",UMLS ID:C5436789,,,,,"hearing loss, autosomal recessive 116",MONDO:0033670,,,autosomal recessive nonsyndromic deafness 116,DOID:0112162,,OMIM ID:615799 | OMIM ID:619093 +BMGC_DS18234,BMG_DS069799,SPERMATOGENIC FAILURE 45,UMLS ID:C5436791,,,,,spermatogenic failure 45,MONDO:0033671,,,spermatogenic failure 45,DOID:0112163,,OMIM ID:619094 | OMIM ID:603333 +BMGC_DS18235,BMG_DS069800,SPERMATOGENIC FAILURE 46,UMLS ID:C5436799,,,,,spermatogenic failure 46,MONDO:0033673,,,spermatogenic failure 46,DOID:0112164,,OMIM ID:619095 | OMIM ID:603337 +BMGC_DS18236,BMG_DS069801,mismatch repair cancer syndrome 2,UMLS ID:C5436806,,,,,mismatch repair cancer syndrome 2,MONDO:0030840,,MeSH ID:C536928,,,,OMIM ID:619096 +BMGC_DS18237,BMG_DS069802,mismatch repair cancer syndrome 3,UMLS ID:C5436807,,,,,mismatch repair cancer syndrome 3,MONDO:0030841,,MeSH ID:C536928,,,,OMIM ID:619097 +BMGC_DS18238,BMG_DS069803,INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY,UMLS ID:C5436813,,,,,intellectual developmental disorder with speech delay and axonal peripheral neuropathy,MONDO:0030849,,,,,,OMIM ID:619099 | OMIM ID:608378 +BMGC_DS18239,BMG_DS069804,mismatch repair cancer syndrome 4,UMLS ID:C5436817,,,,,mismatch repair cancer syndrome 4,MONDO:0030843,,MeSH ID:C536928,,,,OMIM ID:619101 +BMGC_DS18240,BMG_DS069805,SPERMATOGENIC FAILURE 47,UMLS ID:C5436818,,,,,spermatogenic failure 47,MONDO:0030844,,,spermatogenic failure 47,DOID:0112175,,OMIM ID:619102 | OMIM ID:608671 +BMGC_DS18241,BMG_DS069806,"NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES",UMLS ID:C5436821,,,,,"neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities",MONDO:0030852,,,,,,OMIM ID:619103 | OMIM ID:601409 +BMGC_DS18242,BMG_DS069807,SPERMATOGENIC FAILURE 48,UMLS ID:C5436823,,,,,spermatogenic failure 48,MONDO:0030846,,,spermatogenic failure 48,DOID:0112176,,OMIM ID:619098 | OMIM ID:619108 +BMGC_DS18243,BMG_DS069808,"ARTHROGRYPOSIS, DISTAL, TYPE 1C",UMLS ID:C5436834,,,,,"arthrogryposis, distal, type 1C",MONDO:0030847,,,distal arthrogryposis type 1C,DOID:0112190,,OMIM ID:617378 | OMIM ID:619110 +BMGC_DS18244,BMG_DS069809,COACH SYNDROME 2,UMLS ID:C5436837,,,,,COACH syndrome 2,MONDO:0030859,,,,,,OMIM ID:619111 | OMIM ID:612013 +BMGC_DS18245,BMG_DS069810,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13",UMLS ID:C5436838,,,,,"neuronopathy, distal hereditary motor, type 5C",MONDO:0030860,,,autosomal dominant distal hereditary motor neuronopathy 13,DOID:0081401,,OMIM ID:619112 | OMIM ID:606158 +BMGC_DS18246,BMG_DS069811,COACH SYNDROME 3,UMLS ID:C5436841,,,,,COACH syndrome 3,MONDO:0030862,,,,,,OMIM ID:610937 | OMIM ID:619113 +BMGC_DS18247,BMG_DS069812,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1,UMLS ID:C5436842,,,,,combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1,MONDO:0030854,,,,,,OMIM ID:120150 | OMIM ID:619115 +BMGC_DS18248,BMG_DS069813,COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2,UMLS ID:C5436847,,,,,combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2,MONDO:0030855,,,,,,OMIM ID:120160 | OMIM ID:619120 +BMGC_DS18249,BMG_DS069814,"NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES",UMLS ID:C5436848,,,,,"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",MONDO:0030866,,,"neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities",DOID:0070543,,OMIM ID:619121 | OMIM ID:138450 +BMGC_DS18250,BMG_DS069815,VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES,UMLS ID:C5436851,,,,,vertebral hypersegmentation and orofacial anomalies,MONDO:0030871,,,vertebral hypersegmentation and orofacial anomalies,DOID:0070418,,OMIM ID:619122 | OMIM ID:603936 +BMGC_DS18251,BMG_DS069816,CARDIOFACIONEURODEVELOPMENTAL SYNDROME,UMLS ID:C5436852,,,,,cardiofacioneurodevelopmental syndrome,MONDO:0030873,,,,,,OMIM ID:618941 | OMIM ID:619123 +BMGC_DS18252,BMG_DS069817,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89,UMLS ID:C5436853,,,,,developmental and epileptic encephalopathy 89,MONDO:0030856,,,developmental and epileptic encephalopathy 89,DOID:0112223,,OMIM ID:605363 | OMIM ID:619124 +BMGC_DS18253,BMG_DS069818,KAYA-BARAKAT-MASSON SYNDROME,UMLS ID:C5436856,,,,,Kaya-Barakat-Masson syndrome,MONDO:0030878,,,,,,OMIM ID:619125 | OMIM ID:619109 +BMGC_DS18254,BMG_DS069819,IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION,UMLS ID:C5436860,,,,,immunodeficiency 75,MONDO:0030858,,,,,,OMIM ID:619126 | OMIM ID:612839 +BMGC_DS18255,BMG_DS069820,MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME,UMLS ID:C5436867,,,,,mandibuloacral dysplasia progeroid syndrome,MONDO:0030880,,,,,,OMIM ID:608555 | OMIM ID:619127 +BMGC_DS18256,BMG_DS069821,THROMBOCYTOPENIA 7,UMLS ID:C5436874,,,,,thrombocytopenia 7,MONDO:0030867,,,,,,OMIM ID:619130 | OMIM ID:606238 +BMGC_DS18257,BMG_DS069822,"OSTEOGENESIS IMPERFECTA, TYPE XXI",UMLS ID:C5436875,,,,,"osteogenesis imperfecta, type 21",MONDO:0030861,,,osteogenesis imperfecta type 21,DOID:0112201,,OMIM ID:619131 | OMIM ID:609024 +BMGC_DS18258,BMG_DS069823,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8,UMLS ID:C5436881,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 8,MONDO:0030872,,,,,,OMIM ID:605018 | OMIM ID:619132 +BMGC_DS18259,BMG_DS069824,AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA,UMLS ID:C5436882,,,,,amyotrophic lateral sclerosis 26 with or without frontotemporal dementia,MONDO:0030885,,,amyotrophic lateral sclerosis type 26,DOID:0081380,,OMIM ID:603518 | OMIM ID:619133 +BMGC_DS18260,BMG_DS069825,RITSCHER-SCHINZEL SYNDROME 3,UMLS ID:C5436883,,,,,Ritscher-Schinzel syndrome 3,MONDO:0030864,,,,,,OMIM ID:618981 | OMIM ID:619135 +BMGC_DS18261,BMG_DS069826,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5,UMLS ID:C5436884,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 5,MONDO:0030875,,,,,,OMIM ID:600227 | OMIM ID:619141 +BMGC_DS18262,BMG_DS069827,CARDIOACROFACIAL DYSPLASIA 1,UMLS ID:C5436885,,,,,cardioacrofacial dysplasia 1,MONDO:0030876,,,,,,OMIM ID:619142 | OMIM ID:601639 +BMGC_DS18263,BMG_DS069828,CARDIOACROFACIAL DYSPLASIA 2,UMLS ID:C5436886,,,,,cardioacrofacial dysplasia 2,MONDO:0030877,,,,,,OMIM ID:176892 | OMIM ID:619143 +BMGC_DS18264,BMG_DS069829,SPERMATOGENIC FAILURE 49,UMLS ID:C5436887,,,,,spermatogenic failure 49,MONDO:0030868,,,spermatogenic failure 49,DOID:0112271,,OMIM ID:619129 | OMIM ID:619144 +BMGC_DS18265,BMG_DS069830,SPERMATOGENIC FAILURE 50,UMLS ID:C5436888,,,,,spermatogenic failures 50,MONDO:0030869,,,spermatogenic failure 50,DOID:0112272,,OMIM ID:600375 | OMIM ID:619145 +BMGC_DS18266,BMG_DS069831,PREMATURE OVARIAN FAILURE 17,UMLS ID:C5436889,,,,,premature ovarian failure 17,MONDO:0030870,,,primary ovarian insufficiency 17,DOID:0080874,,OMIM ID:600375 | OMIM ID:619146 +BMGC_DS18267,BMG_DS069832,CHROMOSOME 13q33-q34 DELETION SYNDROME,UMLS ID:C5436890,,,,,chromosome 13q33-q34 deletion syndrome,MONDO:0030896,,,,,,OMIM ID:619148 +BMGC_DS18268,BMG_DS069833,LESSEL-KREIENKAMP SYNDROME,UMLS ID:C5436892,,,,,Lessel-Kreienkamp syndrome,MONDO:0030897,,,,,,OMIM ID:606229 | OMIM ID:619149 +BMGC_DS18269,BMG_DS069834,INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES,UMLS ID:C5436894,,,,,intellectual developmental disorder with paroxysmal dyskinesia or seizures,MONDO:0030900,,,,,,OMIM ID:619150 | OMIM ID:602658 +BMGC_DS18270,BMG_DS069836,AMeD syndrome,UMLS ID:C5436906,"Aplastic anemia, intellectual disability, dwarfism syndrome | AMeD syndrome | AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome | Aplastic anaemia, intellectual disability, dwarfism syndrome | Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) | AMeD (aplastic anaemia, intellectual disability, dwarfism) syndrome",SNOMEDCT ID:1332385000,,,"AMED syndrome, digenic",MONDO:0030894,,,,,,OMIM ID:619151 +BMGC_DS18271,BMG_DS069837,"NEPHROTIC SYNDROME, TYPE 22",UMLS ID:C5436909,,,,,"nephrotic syndrome, type 22",MONDO:0030895,,,nephrotic syndrome type 22,DOID:0112268,,OMIM ID:619155 | OMIM ID:605551 +BMGC_DS18272,BMG_DS069838,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY,UMLS ID:C5436914,,,,,neurodevelopmental disorder with or without early-onset generalized epilepsy,MONDO:0030930,,,,,,OMIM ID:619157 +BMGC_DS18273,BMG_DS069839,CARPAL TUNNEL SYNDROME 2,UMLS ID:C5436916,,,,,carpal tunnel syndrome 2,MONDO:0030883,,,carpal tunnel syndrome 2,DOID:0070467,,OMIM ID:600310 | OMIM ID:619161 +BMGC_DS18274,BMG_DS069840,Oculocutaneous albinism type 8,UMLS ID:C5436929,Oculocutaneous albinism type 8 (disorder) | Oculocutaneous albinism type 8 | OCA8 - oculocutaneous albinism type 8,SNOMEDCT ID:1300116006,,,oculocutaneous albinism type 8,MONDO:0030899,,,,,,OMIM ID:619165 +BMGC_DS18275,BMG_DS069841,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2",UMLS ID:C5436933,,,,,"mitochondrial complex 2 deficiency, nuclear type 2",MONDO:0030935,,,,,,OMIM ID:612848 | OMIM ID:619166 +BMGC_DS18276,BMG_DS069842,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3",UMLS ID:C5436934,,,,,"mitochondrial complex 2 deficiency, nuclear type 3",MONDO:0030937,,,,,,OMIM ID:602690 | OMIM ID:619167 +BMGC_DS18277,BMG_DS069843,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36",UMLS ID:C5436935,,,,,"mitochondrial complex 1 deficiency, nuclear type 36",MONDO:0030902,,,,,,OMIM ID:603845 | OMIM ID:619170 +BMGC_DS18278,BMG_DS069844,HERMANSKY-PUDLAK SYNDROME 11,UMLS ID:C5436936,,,,,Hermansky-Pudlak syndrome 11,MONDO:0030903,,,,,,OMIM ID:619172 | OMIM ID:607289 +BMGC_DS18279,BMG_DS069845,"DEAFNESS, AUTOSOMAL RECESSIVE 117",UMLS ID:C5436937,,,,,"hearing loss, autosomal recessive 117",MONDO:0030905,,,,,,OMIM ID:618988 | OMIM ID:619174 +BMGC_DS18280,BMG_DS069846,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10,UMLS ID:C5436938,,,,,oocyte maturation defect 10,MONDO:0030925,,,,,,OMIM ID:618421 | OMIM ID:619176 +BMGC_DS18281,BMG_DS069861,"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1",UMLS ID:C5436962,,,,,"muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1",MONDO:0013159,,,muscular dystrophy-dystroglycanopathy type B1,DOID:0050588,,OMIM ID:607423 | OMIM ID:613155 +BMGC_DS18282,BMG_DS069995,Alpha-N-acetylgalactosaminidase deficiency type 3,UMLS ID:C5437471,Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) | Alpha-N-acetylgalactosaminidase deficiency type 3 | Schindler disease type 3 | NAGA (alpha-N-acetylgalactosaminidase) deficiency type 3,SNOMEDCT ID:880066000,,,alpha-N-acetylgalactosaminidase deficiency type 3,MONDO:0019264,,,,,, +BMGC_DS18283,BMG_DS070023,Contact dermatitis caused by urushiol from poison oak,UMLS ID:C5437556,Contact dermatitis caused by poison oak | Contact dermatitis caused by urushiol from poison oak (disorder) | Contact dermatitis caused by urushiol from poison oak,SNOMEDCT ID:200824008,,,,,,,,,, +BMGC_DS18284,BMG_DS070042,Blepharophimosis epicanthus inversus ptosis syndrome plus,UMLS ID:C5437588,3q23 microdeletion syndrome | Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) | Blepharophimosis epicanthus inversus ptosis syndrome plus | BPES (blepharophimosis epicanthus inversus ptosis syndrome) plus,SNOMEDCT ID:890180006,,,blepharophimosis-ptosis-epicanthus inversus syndrome plus,MONDO:0035521,,,,,, +BMGC_DS18285,BMG_DS070045,,UMLS ID:C5437603,,,,,"malignant hyperthermia, susceptibility to",MONDO:0800188,,,,,, +BMGC_DS18286,BMG_DS070052,Mowat-Wilson syndrome due to monosomy 2q22,UMLS ID:C5437617,Hirschsprung disease and intellectual disability due to del(2)(q22) | Hirschsprung disease and intellectual disability due to monosomy 2q22 | Mowat-Wilson syndrome due to monosomy 2q22 (disorder) | Hirschsprung disease and intellectual disability due to 2q22 microdeletion | Mowat-Wilson syndrome due to del(2)q(22) | Mowat-Wilson syndrome due to monosomy 2q22 | Mowat-Wilson syndrome due to 2q22 microdeletion,SNOMEDCT ID:890118006,,,Mowat-Wilson syndrome due to monosomy 2q22,MONDO:0016855,,,,,, +BMGC_DS18287,BMG_DS070067,Autosomal recessive epidermolytic ichthyosis,UMLS ID:C5437635,Autosomal recessive epidermolytic ichthyosis (disorder) | Autosomal recessive epidermolytic ichthyosis,SNOMEDCT ID:890235002,,,autosomal recessive epidermolytic ichthyosis,MONDO:0044742,,,,,, +BMGC_DS18288,BMG_DS070144,,UMLS ID:C5437887,,,,,complete cryptophthalmia,MONDO:0020360,,,,,, +BMGC_DS18289,BMG_DS070240,6q16 microdeletion syndrome,UMLS ID:C5438727,Prader-Willi-like syndrome due to microdeletion 6q16 | 6q16 microdeletion syndrome | 6q16 microdeletion syndrome (disorder) | Obesity due to 6q16 deletion,SNOMEDCT ID:1003380001,,,6q16 deletion syndrome,MONDO:0015749,,,,,, +BMGC_DS18290,BMG_DS070248,Pfeiffer syndrome type 1,UMLS ID:C5438812,Pfeiffer syndrome type 1 (disorder) | Pfeiffer syndrome type 1,SNOMEDCT ID:1003877009,,,Pfeiffer syndrome type 1,MONDO:0019659,,,,,, +BMGC_DS18291,BMG_DS070249,Pelizaeus-Merzbacher disease in female carrier,UMLS ID:C5438815,Pelizaeus-Merzbacher disease in female carrier | Pelizaeus-Merzbacher disease in female carrier (disorder),SNOMEDCT ID:1003881009,,,Pelizaeus-Merzbacher disease in female carriers,MONDO:0017224,,,,,, +BMGC_DS18292,BMG_DS070250,Pfeiffer syndrome type 2,UMLS ID:C5438849,Pfeiffer syndrome type 2 (disorder) | Pfeiffer syndrome type 2,SNOMEDCT ID:1003916008,,,Pfeiffer syndrome type 2,MONDO:0019660,,,,,, +BMGC_DS18293,BMG_DS070251,Pfeiffer syndrome type 3,UMLS ID:C5438850,Pfeiffer syndrome type 3 (disorder) | Pfeiffer syndrome type 3,SNOMEDCT ID:1003918009,,,Pfeiffer syndrome type 3,MONDO:0019661,,,,,, +BMGC_DS18294,BMG_DS070281,Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation,UMLS ID:C5438974,Leydig cell hypoplasia due to complete LH receptor inactivation | Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation (disorder) | Leydig cell hypoplasia due to complete luteinising hormone receptor inactivation | Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation,SNOMEDCT ID:1003437009,,,Leydig cell hypoplasia due to complete LH resistance,MONDO:0019930,,,,,, +BMGC_DS18295,BMG_DS070282,Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation,UMLS ID:C5438975,Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation | Leydig cell hypoplasia due to partial luteinising hormone receptor inactivation | Leydig cell hypoplasia due to partial LH receptor inactivation | Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation (disorder),SNOMEDCT ID:1003438004,,,Leydig cell hypoplasia due to partial LH resistance,MONDO:0019931,,,,,, +BMGC_DS18296,BMG_DS070333,Stickler syndrome type 4,UMLS ID:C5439212,Stickler syndrome type 4 (disorder) | Stickler syndrome type 4 | Autosomal recessive Stickler syndrome,SNOMEDCT ID:1010666007,,,,,,,,,, +BMGC_DS18297,BMG_DS070379,Pelizaeus-Merzbacher disease null syndrome,UMLS ID:C5439441,PLP1 null syndrome | Null syndrome | Pelizaeus-Merzbacher disease null syndrome | Pelizaeus-Merzbacher disease null syndrome (disorder),SNOMEDCT ID:1003447007,,,null syndrome,MONDO:0017225,,,,,, +BMGC_DS18298,BMG_DS070407,Enteric Neuropathy,UMLS ID:C5441716,,,,,,,Intestinal Pseudo-Obstruction,MeSH ID:D007418,,,, +BMGC_DS18299,BMG_DS070408,Congenital short bowel syndrome,UMLS ID:C5441717,Congenital short bowel syndrome (disorder) | Congenital short bowel syndrome,SNOMEDCT ID:715201005,,,congenital short bowel syndrome,MONDO:0014097,,,,,, +BMGC_DS18300,BMG_DS070410,,UMLS ID:C5441745,,,,,interstitial lung disease,MONDO:0015925,,,,,, +BMGC_DS18301,BMG_DS070412,"Diarrhea 3, Secretory Sodium, Congenital",UMLS ID:C5441927,,,,,congenital secretory sodium diarrhea 3,MONDO:0010036,,MeSH ID:C562576,,,,OMIM ID:270420 +BMGC_DS18302,BMG_DS070413,"DIARRHEA 8, SECRETORY SODIUM, CONGENITAL",UMLS ID:C5441928,,,,,congenital secretory sodium diarrhea 8,MONDO:0014808,,,,,,OMIM ID:182307 | OMIM ID:616868 +BMGC_DS18303,BMG_DS070415,Warburg micro syndrome,UMLS ID:C5442005,Warburg micro syndrome | Warburg micro syndrome (disorder) | Micro syndrome,SNOMEDCT ID:772224009,,,Warburg micro syndrome,MONDO:0016649,,,,,, +BMGC_DS18304,BMG_DS070416,Congenital pontocerebellar hypoplasia type 1,UMLS ID:C5442006,Congenital pontocerebellar hypoplasia type 1 (disorder) | Congenital pontocerebellar hypoplasia type 1 | PCH1 - pontocerebellar hypoplasia type 1 | Pontocerebellar hypoplasia type 1 | Norman disease,SNOMEDCT ID:718610008,,,pontocerebellar hypoplasia type 1,MONDO:0016396,,,,,, +BMGC_DS18305,BMG_DS070417,"BLEEDING DISORDER, PLATELET-TYPE, 16",UMLS ID:C5442010,,,,,platelet-type bleeding disorder 16,MONDO:0008552,,,,,,OMIM ID:187800 | OMIM ID:607759 +BMGC_DS18306,BMG_DS070418,"OTOFACIOCERVICAL SYNDROME 2, WITH T-CELL DEFICIENCY",UMLS ID:C5442121,,,,,otofaciocervical syndrome 2,MONDO:0014254,,,,,,OMIM ID:615560 +BMGC_DS18307,BMG_DS070420,Clonal Cytopenia of Undetermined Significance,UMLS ID:C5442191,,,,,,,,MeSH ID:D000082182,,,, +BMGC_DS18308,BMG_DS070425,BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME,UMLS ID:C5443984,,,,,blepharophimosis-impaired intellectual development syndrome,MONDO:0859139,,,blepharophimosis-impaired intellectual development syndrome,DOID:0081442,,OMIM ID:619293 | OMIM ID:600014 +BMGC_DS18309,BMG_DS070426,HYPERTRIGLYCERIDEMIA 1,UMLS ID:C5444012,,,,,hypertriglyceridemia 1,MONDO:0007788,,,,,,OMIM ID:145750 +BMGC_DS18310,BMG_DS070427,COFFIN-SIRIS SYNDROME 12,UMLS ID:C5444111,,,,,Coffin-Siris syndrome 12,MONDO:0025699,,,Coffin-Siris syndrome 12,DOID:0112370,,OMIM ID:619325 | OMIM ID:605690 +BMGC_DS18311,BMG_DS070428,"DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE",UMLS ID:C5444223,,,,,"dysostosis multiplex, Ain-Naz type",MONDO:0859156,,,,,,OMIM ID:619332 | OMIM ID:619345 +BMGC_DS18312,BMG_DS070429,"INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE",UMLS ID:C5444224,,,,,"inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive",MONDO:0030314,,,,,,OMIM ID:619398 +BMGC_DS18313,BMG_DS070430,Dentinogenesis Imperfecta 1,UMLS ID:C5444410,,,,,,,Dentinogenesis Imperfecta,MeSH ID:D003811,,,, +BMGC_DS18314,BMG_DS070435,,UMLS ID:C5445164,,,,,juvenile polyposis of infancy,MONDO:0019190,,,,,, +BMGC_DS18315,BMG_DS070442,,UMLS ID:C5447331,,,,,autosomal recessive severe congenital neutropenia,MONDO:0028226,,,,,, +BMGC_DS18316,BMG_DS070444,Xq25 microduplication syndrome,UMLS ID:C5447842,Xq25 microduplication syndrome | Xq25 microtriplication | Xq25 microduplication syndrome (disorder),SNOMEDCT ID:1229872004,,,,,,,,,, +BMGC_DS18317,BMG_DS070445,,UMLS ID:C5447980,,,,,,,,,lacrimal gland squamous cell carcinoma,DOID:5529,, +BMGC_DS18318,BMG_DS070503,Primary Vesicoureteral Reflux,UMLS ID:C5539786,,,,,,,Vesico-Ureteral Reflux,MeSH ID:D014718,,,, +BMGC_DS18319,BMG_DS070504,VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME,UMLS ID:C5542154,,,,,ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome,MONDO:0020745,,,,,,OMIM ID:115000 | OMIM ID:180902 +BMGC_DS18320,BMG_DS070505,HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY,UMLS ID:C5542181,,,,,hypotaurinemic retinal degeneration and cardiomyopathy,MONDO:0007777,,,,,,OMIM ID:145350 | OMIM ID:186854 +BMGC_DS18321,BMG_DS070506,VISCERAL MYOPATHY 1,UMLS ID:C5542197,,,,,visceral myopathy 1,MONDO:0020754,,,,,,OMIM ID:155310 | OMIM ID:102545 +BMGC_DS18322,BMG_DS070507,ODONTOCHONDRODYSPLASIA 1,UMLS ID:C5542277,,,,,odontochondrodysplasia 1,MONDO:0100325,,,,,,OMIM ID:604505 | OMIM ID:184260 +BMGC_DS18323,BMG_DS070508,WHIM SYNDROME 1,UMLS ID:C5542296,,,,,WHIM syndrome 1,MONDO:8000006,,,,,,OMIM ID:162643 | OMIM ID:193670 +BMGC_DS18324,BMG_DS070509,MARTSOLF SYNDROME 1,UMLS ID:C5542298,,,,,Martsolf syndrome 1,MONDO:8000008,,,,,,OMIM ID:212720 | OMIM ID:609275 +BMGC_DS18325,BMG_DS070510,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1,UMLS ID:C5542316,,,,,megacystis-microcolon-intestinal hypoperistalsis syndrome 1,MONDO:0100354,,,,,,OMIM ID:600922 | OMIM ID:249210 +BMGC_DS18326,BMG_DS070511,"MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED",UMLS ID:C5542341,,,,,"multiple congenital anomalies-neurodevelopmental syndrome, X-linked",MONDO:0025351,,,,,,OMIM ID:301056 | OMIM ID:300713 +BMGC_DS18327,BMG_DS070512,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90,UMLS ID:C5542345,,,,,"developmental and epileptic encephalopathy, 90",MONDO:0025353,,,developmental and epileptic encephalopathy 90,DOID:0070381,,OMIM ID:301058 | OMIM ID:300070 +BMGC_DS18328,BMG_DS070513,"SPERMATOGENIC FAILURE, X-LINKED, 3",UMLS ID:C5542347,,,,,"spermatogenic failure, X-linked, 3",MONDO:0025354,,,X-linked spermatogenic failure 3,DOID:0112274,,OMIM ID:301059 | OMIM ID:301057 +BMGC_DS18329,BMG_DS070514,"AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS",UMLS ID:C5542351,,,,,"azoospermia, obstructive, with nephrolithiasis",MONDO:0025356,,,,,,OMIM ID:301060 | OMIM ID:300520 +BMGC_DS18330,BMG_DS070516,"HYPERCHOLANEMIA, FAMILIAL 1",UMLS ID:C5542604,,,,,"hypercholanemia, familial 1",MONDO:0031446,,,,,,OMIM ID:607709 | OMIM ID:607748 +BMGC_DS18331,BMG_DS070517,OLMSTED SYNDROME 1,UMLS ID:C5542829,,,,,Olmsted syndrome 1,MONDO:0100296,,,autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques,DOID:0112013,,OMIM ID:607066 | OMIM ID:614594 +BMGC_DS18332,BMG_DS070518,"SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1",UMLS ID:C5542952,,,,,"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1",MONDO:0100297,,,"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1",DOID:0060989,,OMIM ID:112261 | OMIM ID:617877 +BMGC_DS18333,BMG_DS070519,"LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS",UMLS ID:C5542996,,,,,"leukoencephalopathy, progressive, infantile-onset, with or without deafness",MONDO:0030893,,,,,,OMIM ID:619147 +BMGC_DS18334,BMG_DS070520,IMMUNODEFICIENCY 76,UMLS ID:C5543004,,,,,immunodeficiency 76,MONDO:0030898,,,,,,OMIM ID:613437 | OMIM ID:619164 +BMGC_DS18335,BMG_DS070521,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES",UMLS ID:C5543020,,,,,"neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities",MONDO:0030947,,,,,,OMIM ID:619173 | OMIM ID:602726 +BMGC_DS18336,BMG_DS070522,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5,UMLS ID:C5543027,,,,,proteasome-associated autoinflammatory syndrome 5,MONDO:0030924,,,proteosome-associated autoinflammatory syndrome 5,DOID:0060919,,OMIM ID:176847 | OMIM ID:619175 +BMGC_DS18337,BMG_DS070523,SPERMATOGENIC FAILURE 51,UMLS ID:C5543033,,,,,spermatogenic failure 51,MONDO:0030926,,,spermatogenic failure 51,DOID:0112273,,OMIM ID:609910 | OMIM ID:619177 +BMGC_DS18338,BMG_DS070524,MYOFIBRILLAR MYOPATHY 11,UMLS ID:C5543038,,,,,myofibrillar myopathy 11,MONDO:0030927,,,myofibrillar myopathy 11,DOID:0081338,,OMIM ID:619178 | OMIM ID:611220 +BMGC_DS18339,BMG_DS070525,"MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT",UMLS ID:C5543048,,,,,"microcephaly 26, primary, autosomal dominant",MONDO:0030928,,,,,,OMIM ID:619179 | OMIM ID:150340 +BMGC_DS18340,BMG_DS070526,"MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT",UMLS ID:C5543051,,,,,"microcephaly 27, primary, autosomal dominant",MONDO:0030929,,,,,,OMIM ID:150341 | OMIM ID:619180 +BMGC_DS18341,BMG_DS070527,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4,UMLS ID:C5543053,,,,,proteasome-associated autoinflammatory syndrome 4,MONDO:0030931,,,proteosome-associated autoinflammatory syndrome 4,DOID:0060915,,OMIM ID:619183 | OMIM ID:609702 +BMGC_DS18342,BMG_DS070528,"SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2",UMLS ID:C5543057,,,,,"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",MONDO:0030953,,,"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2",DOID:0112358,,OMIM ID:614708 | OMIM ID:619184 +BMGC_DS18343,BMG_DS070529,JOUBERT SYNDROME 37,UMLS ID:C5543064,,,,,Joubert syndrome 37,MONDO:0030933,,,,,,OMIM ID:617618 | OMIM ID:619185 +BMGC_DS18344,BMG_DS070530,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64",UMLS ID:C5543067,,,,,"intellectual developmental disorder, autosomal dominant 64",MONDO:0030934,,,,,,OMIM ID:616213 | OMIM ID:619188 +BMGC_DS18345,BMG_DS070531,LI-CAMPEAU SYNDROME,UMLS ID:C5543068,,,,,Li-Campeau syndrome,MONDO:0030963,,,,,,OMIM ID:613816 | OMIM ID:619189 +BMGC_DS18346,BMG_DS070532,"EPILEPSY, PROGRESSIVE MYOCLONIC, 12",UMLS ID:C5543069,,,,,"epilepsy, progressive myoclonic, 12",MONDO:0030936,,,,,,OMIM ID:619192 | OMIM ID:619191 +BMGC_DS18347,BMG_DS070533,NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS,UMLS ID:C5543070,,,,,neurofacioskeletal syndrome with or without renal agenesis,MONDO:0030966,,,,,,OMIM ID:619194 +BMGC_DS18348,BMG_DS070534,"DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY",UMLS ID:C5543087,,,,,"deafness, congenital, and adult-onset progressive leukoencephalopathy",MONDO:0030967,,,,,,OMIM ID:601421 | OMIM ID:619196 +BMGC_DS18349,BMG_DS070536,"NEPHROTIC SYNDROME, TYPE 23",UMLS ID:C5543092,,,,,"nephrotic syndrome, type 23",MONDO:0030962,,,nephrotic syndrome type 23,DOID:0112266,,OMIM ID:607428 | OMIM ID:619201 +BMGC_DS18350,BMG_DS070537,SPERMATOGENIC FAILURE 52,UMLS ID:C5543094,,,,,spermatogenic failure 52,MONDO:0030938,,,spermatogenic failure 52,DOID:0112270,,OMIM ID:617307 | OMIM ID:619202 +BMGC_DS18351,BMG_DS070538,PREMATURE OVARIAN FAILURE 18,UMLS ID:C5543095,,,,,premature ovarian failure 18,MONDO:0030939,,,primary ovarian insufficiency 18,DOID:0112269,,OMIM ID:617307 | OMIM ID:619203 +BMGC_DS18352,BMG_DS070539,OLMSTED SYNDROME 2,UMLS ID:C5543096,,,,,Olmsted syndrome 2,MONDO:0030961,,,,,,OMIM ID:609301 | OMIM ID:619208 +BMGC_DS18353,BMG_DS070540,ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7,UMLS ID:C5543106,,,,,erythrokeratodermia variabilis et progressiva 7,MONDO:0030941,,,,,,OMIM ID:609301 | OMIM ID:619209 +BMGC_DS18354,BMG_DS070541,OCULOMOTOR-ABDUCENS SYNKINESIS,UMLS ID:C5543116,,,,,oculomotor-abducens synkinesis,MONDO:0030976,,,,,,OMIM ID:610376 | OMIM ID:619215 +BMGC_DS18355,BMG_DS070542,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 7",UMLS ID:C5543119,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 7",MONDO:0030977,,,autosomal recessive distal hereditary motor neuronopathy 7,DOID:0081426,,OMIM ID:619216 | OMIM ID:611901 +BMGC_DS18356,BMG_DS070543,"ENDOVE SYNDROME, LIMB-ONLY TYPE",UMLS ID:C5543128,,,,,"ENDOVE syndrome, limb-only type",MONDO:0030978,,,,,,OMIM ID:619217 +BMGC_DS18357,BMG_DS070544,"ENDOVE SYNDROME, LIMB-BRAIN TYPE",UMLS ID:C5543142,,,,,"ENDOVE syndrome, limb-brain type",MONDO:0030979,,,,,,OMIM ID:131290 | OMIM ID:619218 +BMGC_DS18358,BMG_DS070545,"Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome",UMLS ID:C5543159,"Tripeptidyl-peptidase II deficiency | TRIANGLE (TPPII-related immunodeficiency, autoimmunity, neurodevelopmental delay, impaired glycolysis, lysosomal expansion) disease | TPPII-related immunodeficiency, autoimmunity and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) | Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | TPPII (tripeptidyl-peptidase II) deficiency | Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome | Evans syndrome associated with primary immunodeficiency",SNOMEDCT ID:1222681008,,,immunodeficiency 78 with autoimmunity and developmental delay,MONDO:0030971,,,,,,OMIM ID:619220 +BMGC_DS18359,BMG_DS070546,SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY,UMLS ID:C5543168,,,,,sulfide quinone oxidoreductase deficiency,MONDO:0030982,,,,,,OMIM ID:617658 | OMIM ID:619221 +BMGC_DS18360,BMG_DS070547,IMMUNODEFICIENCY 77,UMLS ID:C5543173,,,,,immunodeficiency 77,MONDO:0030973,,,,,,OMIM ID:610390 | OMIM ID:619223 +BMGC_DS18361,BMG_DS070548,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4",UMLS ID:C5543176,,,,,"mitochondrial complex 2 deficiency, nuclear type 4",MONDO:0030974,,,,,,OMIM ID:619224 | OMIM ID:185470 +BMGC_DS18362,BMG_DS070549,"BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA",UMLS ID:C5543184,,,,,"blistering, acantholytic, of oral and laryngeal mucosa",MONDO:0030986,,,,,,OMIM ID:169615 | OMIM ID:619226 +BMGC_DS18363,BMG_DS070550,"VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS",UMLS ID:C5543189,,,,,"vertebral, cardiac, tracheoesophageal, renal, and limb defects",MONDO:0030987,,,,,,OMIM ID:618083 | OMIM ID:619227 +BMGC_DS18364,BMG_DS070551,DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES,UMLS ID:C5543197,,,,,developmental delay with dysmorphic facies and dental anomalies,MONDO:0030988,,,,,,OMIM ID:602075 | OMIM ID:619228 +BMGC_DS18365,BMG_DS070552,DEN HOED-DE BOER-VOISIN SYNDROME,UMLS ID:C5543202,,,,,Kohlschutter-Tonz syndrome-like,MONDO:0030990,,,,,,OMIM ID:602075 | OMIM ID:619229 +BMGC_DS18366,BMG_DS070553,BILE ACID CONJUGATION DEFECT 1,UMLS ID:C5543203,,,,,bile acid conjugation defect 1,MONDO:0030991,,,,,,OMIM ID:602938 | OMIM ID:619232 +BMGC_DS18367,BMG_DS070554,"SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY",UMLS ID:C5543206,,,,,"short stature, oligodontia, dysmorphic facies, and motor delay",MONDO:0030992,,,,,,OMIM ID:617457 | OMIM ID:619234 +BMGC_DS18368,BMG_DS070555,IMMUNODEFICIENCY 79,UMLS ID:C5543220,,,,,immunodeficiency 79,MONDO:0030981,,,immunodeficiency 79,DOID:0112277,,OMIM ID:186940 | OMIM ID:619238 +BMGC_DS18369,BMG_DS070556,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES,UMLS ID:C5543225,,,,,neurodevelopmental disorder with or without autism or seizures,MONDO:0030994,,,,,,OMIM ID:619239 +BMGC_DS18370,BMG_DS070557,GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5543226,,,,,global developmental delay with speech and behavioral abnormalities,MONDO:0030995,,,,,,OMIM ID:619243 | OMIM ID:610740 +BMGC_DS18371,BMG_DS070558,NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM,UMLS ID:C5543228,,,,,neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism,MONDO:0030999,,,,,,OMIM ID:619244 | OMIM ID:619014 +BMGC_DS18372,BMG_DS070559,PREMATURE OVARIAN FAILURE 19,UMLS ID:C5543229,,,,,premature ovarian failure 19,MONDO:0030985,,,primary ovarian insufficiency 19,DOID:0112278,,OMIM ID:604554 | OMIM ID:619245 +BMGC_DS18373,BMG_DS070560,BARALLE-MACKEN SYNDROME,UMLS ID:C5543241,,,,,Baralle-Macken syndrome,MONDO:0031002,,,,,,OMIM ID:600959 | OMIM ID:619255 +BMGC_DS18374,BMG_DS070561,"HYPERCHOLANEMIA, FAMILIAL, 2",UMLS ID:C5543243,,,,,"hypercholanemia, familial, 2",MONDO:0031003,,,,,,OMIM ID:619256 | OMIM ID:182396 +BMGC_DS18375,BMG_DS070562,SPERMATOGENIC FAILURE 53,UMLS ID:C5543253,,,,,spermatogenic failure 53,MONDO:0030989,,,spermatogenic failure 53,DOID:0112279,,OMIM ID:619258 | OMIM ID:619251 +BMGC_DS18376,BMG_DS070563,NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY,UMLS ID:C5543254,,,,,neurodegeneration with ataxia and late-onset optic atrophy,MONDO:0031006,,,,,,OMIM ID:600857 | OMIM ID:619259 +BMGC_DS18377,BMG_DS070564,"SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS",UMLS ID:C5543257,,,,,"spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis",MONDO:0031007,,,"spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis",DOID:0112290,,OMIM ID:608700 | OMIM ID:619260 +BMGC_DS18378,BMG_DS070565,"NEPHROTIC SYNDROME, TYPE 24",UMLS ID:C5543267,,,,,"nephrotic syndrome, type 24",MONDO:0031008,,,,,,OMIM ID:619263 | OMIM ID:606627 +BMGC_DS18379,BMG_DS070566,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES,UMLS ID:C5543268,,,,,neurodevelopmental disorder with dysmorphic facies and variable seizures,MONDO:0031011,,,,,,OMIM ID:619264 | OMIM ID:614545 +BMGC_DS18380,BMG_DS070567,GLANZMANN THROMBASTHENIA 2,UMLS ID:C5543273,,,,,Glanzmann thrombasthenia 2,MONDO:0031009,,,,,,OMIM ID:173470 | OMIM ID:619267 +BMGC_DS18381,BMG_DS070568,ALZAHRANI-KUWAHARA SYNDROME,UMLS ID:C5543274,,,,,Alzahrani-Kuwahara syndrome,MONDO:0859136,,,,,,OMIM ID:613175 | OMIM ID:619268 +BMGC_DS18382,BMG_DS070569,ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES,UMLS ID:C5543275,,,,,odontochondrodysplasia 2 with hearing loss and diabetes,MONDO:0031010,,,,,,OMIM ID:619269 +BMGC_DS18383,BMG_DS070570,"BLEEDING DISORDER, PLATELET-TYPE, 24",UMLS ID:C5543280,,,,,"bleeding disorder, platelet-type, 24",MONDO:0030996,,,,,,OMIM ID:619271 | OMIM ID:173470 +BMGC_DS18384,BMG_DS070571,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37",UMLS ID:C5543281,,,,,"mitochondrial complex 1 deficiency, nuclear type 37",MONDO:0030997,,,,,,OMIM ID:619272 | OMIM ID:603359 +BMGC_DS18385,BMG_DS070572,CIMDAG syndrome,UMLS ID:C5543287,"CIMDAG syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome (disorder) | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome | Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome | CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome | CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome",SNOMEDCT ID:1332508004,,,cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,MONDO:0035819,,,,,,OMIM ID:619273 +BMGC_DS18386,BMG_DS070573,"DEAFNESS, AUTOSOMAL DOMINANT 80",UMLS ID:C5543289,,,,,"hearing loss, autosomal dominant 80",MONDO:0030998,,,autosomal dominant nonsyndromic deafness 80,DOID:0070602,,OMIM ID:619274 | OMIM ID:617782 +BMGC_DS18387,BMG_DS070574,"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2",UMLS ID:C5543294,,,,,"microcephaly, epilepsy, and diabetes syndrome 2",MONDO:0025690,,,,,,OMIM ID:619278 | OMIM ID:611483 +BMGC_DS18388,BMG_DS070575,PARKINSONISM WITH POLYNEUROPATHY,UMLS ID:C5543299,,,,,parkinsonism with polyneuropathy,MONDO:0036193,,,,,,OMIM ID:619279 | OMIM ID:191328 +BMGC_DS18389,BMG_DS070576,"IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE",UMLS ID:C5543301,,,,,"immunodeficiency 14b, autosomal recessive",MONDO:0023655,,,,,,OMIM ID:602839 | OMIM ID:619281 +BMGC_DS18390,BMG_DS070577,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA",UMLS ID:C5543306,,,,,"neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia",MONDO:0859137,,,,,,OMIM ID:619286 | OMIM ID:605044 +BMGC_DS18391,BMG_DS070578,DYSTONIA 30,UMLS ID:C5543312,,,,,dystonia 30,MONDO:0025691,,,dystonia 30,DOID:0060937,,OMIM ID:619291 | OMIM ID:608550 +BMGC_DS18392,BMG_DS070579,KINSSHIP SYNDROME,UMLS ID:C5543317,,,,,KINSSHIP syndrome,MONDO:0851095,,,KINSSHIP syndrome,DOID:0112383,,OMIM ID:601464 | OMIM ID:619297 +BMGC_DS18393,BMG_DS070580,"PONTOCEREBELLAR HYPOPLASIA, TYPE 14",UMLS ID:C5543322,,,,,"pontocerebellar hypoplasia, type 14",MONDO:0030258,,,pontocerebellar hypoplasia type 14,DOID:0112325,,OMIM ID:601301 | OMIM ID:619301 +BMGC_DS18394,BMG_DS070581,"PONTOCEREBELLAR HYPOPLASIA, TYPE 15",UMLS ID:C5543326,,,,,"pontocerebellar hypoplasia, type 15",MONDO:0030259,,,pontocerebellar hypoplasia type 15,DOID:0112326,,OMIM ID:605585 | OMIM ID:619302 +BMGC_DS18395,BMG_DS070582,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1E",UMLS ID:C5543328,,,,,"pontocerebellar hypoplasia, type 1E",MONDO:0030260,,,pontocerebellar hypoplasia type 1E,DOID:0112330,,OMIM ID:619303 | OMIM ID:610826 +BMGC_DS18396,BMG_DS070583,"PONTOCEREBELLAR HYPOPLASIA, TYPE 1F",UMLS ID:C5543331,,,,,"pontocerebellar hypoplasia, type 1F",MONDO:0030261,,,pontocerebellar hypoplasia type 1F,DOID:0112331,,OMIM ID:619304 | OMIM ID:606493 +BMGC_DS18397,BMG_DS070584,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA,UMLS ID:C5543332,,,,,neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia,MONDO:0859141,,,,,,OMIM ID:615329 | OMIM ID:619306 +BMGC_DS18398,BMG_DS070585,"LEUKODYSTROPHY, HYPOMYELINATING, 21",UMLS ID:C5543334,,,,,"leukodystrophy, hypomyelinating, 21",MONDO:0030263,,,hypomyelinating leukodystrophy 21,DOID:0070407,,OMIM ID:619310 +BMGC_DS18399,BMG_DS070586,HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5543338,,,,,Hiatt-Neu-Cooper neurodevelopmental syndrome,MONDO:0859142,,,,,,OMIM ID:179550 | OMIM ID:619311 +BMGC_DS18400,BMG_DS070587,RADIO-TARTAGLIA SYNDROME,UMLS ID:C5543339,,,,,Radio-Tartaglia syndrome,MONDO:0859143,,,,,,OMIM ID:613484 | OMIM ID:619312 +BMGC_DS18401,BMG_DS070588,IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY,UMLS ID:C5543344,,,,,immunodeficiency 80 with or without congenital cardiomyopathy,MONDO:0030266,,,,,,OMIM ID:619313 +BMGC_DS18402,BMG_DS070589,BURATTI-HAREL SYNDROME,UMLS ID:C5543351,,,,,Buratti-Harel syndrome,MONDO:0859144,,,,,,OMIM ID:602212 | OMIM ID:619314 +BMGC_DS18403,BMG_DS070590,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B,UMLS ID:C5543353,,,,,developmental and epileptic encephalopathy 6B,MONDO:0030268,,,developmental and epileptic encephalopathy 6B,DOID:0070379,,OMIM ID:182389 | OMIM ID:619317 +BMGC_DS18404,BMG_DS070591,OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5543355,,,,,oculogastrointestinal-neurodevelopmental syndrome,MONDO:0036189,,,,,,OMIM ID:619318 | OMIM ID:603267 +BMGC_DS18405,BMG_DS070592,LYMPHATIC MALFORMATION 9,UMLS ID:C5543365,,,,,lymphatic malformation 9,MONDO:0030270,,,,,,OMIM ID:619319 | OMIM ID:604523 +BMGC_DS18406,BMG_DS070593,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65",UMLS ID:C5543371,,,,,"intellectual developmental disorder, autosomal dominant 65",MONDO:0023657,,,,,,OMIM ID:609765 | OMIM ID:619320 +BMGC_DS18407,BMG_DS070594,"GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES",UMLS ID:C5543375,,,,,"growth restriction, hypoplastic kidneys, alopecia, and distinctive facies",MONDO:0859146,,,,,,OMIM ID:603901 | OMIM ID:619321 +BMGC_DS18408,BMG_DS070595,MARBACH-RUSTAD PROGEROID SYNDROME,UMLS ID:C5543388,,,,,Marbach-Rustad progeroid syndrome,MONDO:0859147,,,,,,OMIM ID:616312 | OMIM ID:619322 +BMGC_DS18409,BMG_DS070596,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH,UMLS ID:C5543395,,,,,neurodevelopmental disorder with seizures and gingival overgrowth,MONDO:0859148,,,,,,OMIM ID:619323 | OMIM ID:619152 +BMGC_DS18410,BMG_DS070597,HYPERTRIGLYCERIDEMIA 2,UMLS ID:C5543398,,,,,hypertriglyceridemia 2,MONDO:0859149,,,,,,OMIM ID:611998 | OMIM ID:619324 +BMGC_DS18411,BMG_DS070598,CPE-related Prader-Willi-like syndrome,UMLS ID:C5543403,Blakemore Durmaz Vasileiou syndrome | BDV (Blakemore Durmaz Vasileiou) syndrome | Carboxypeptidase E-related Prader-Willi-like syndrome | CPE-related Prader-Willi-like syndrome | Carboxypeptidase E-related Prader-Willi-like syndrome (disorder) | BDV syndrome,SNOMEDCT ID:1340175001,,,BDV syndrome,MONDO:0859150,,,,,,OMIM ID:619326 +BMGC_DS18412,BMG_DS070599,"LEUKODYSTROPHY, HYPOMYELINATING, 22",UMLS ID:C5543406,,,,,"leukodystrophy, hypomyelinating, 22",MONDO:0025701,,,hypomyelinating leukodystrophy 22,DOID:0070402,,OMIM ID:601326 | OMIM ID:619328 +BMGC_DS18413,BMG_DS070600,"FIBROMUSCULAR DYSPLASIA, MULTIFOCAL",UMLS ID:C5543412,,,,,"fibromuscular dysplasia, multifocal",MONDO:0859151,,,,,,OMIM ID:120215 | OMIM ID:619329 +BMGC_DS18414,BMG_DS070601,NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION,UMLS ID:C5543427,,,,,neurodevelopmental disorder with cerebellar atrophy and motor dysfunction,MONDO:0859152,,,neurodevelopmental disorder with cerebellar atrophy and motor dysfunction,DOID:0070443,,OMIM ID:619333 | OMIM ID:607005 +BMGC_DS18415,BMG_DS070602,ARTHROGRYPOSIS MULTIPLEX CONGENITA 6,UMLS ID:C5543431,,,,,arthrogryposis multiplex congenita 6,MONDO:0030281,,,arthrogryposis multiplex congenita-6,DOID:0070336,,OMIM ID:619334 | OMIM ID:161650 +BMGC_DS18416,BMG_DS070603,"CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY",UMLS ID:C5543440,,,,,,,,,,,,OMIM ID:619338 +BMGC_DS18417,BMG_DS070604,BARTSOCAS-PAPAS SYNDROME 2,UMLS ID:C5543445,,,,,Bartsocas-Papas syndrome 2,MONDO:0859154,,,,,,OMIM ID:619339 +BMGC_DS18418,BMG_DS070605,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96,UMLS ID:C5543446,,,,,developmental and epileptic encephalopathy 96,MONDO:0023659,,,developmental and epileptic encephalopathy 96,DOID:0070377,,OMIM ID:619340 | OMIM ID:601633 +BMGC_DS18419,BMG_DS070606,VISCERAL MYOPATHY 2,UMLS ID:C5543466,,,,,visceral myopathy 2,MONDO:0859157,,,,,,OMIM ID:619350 | OMIM ID:160745 +BMGC_DS18420,BMG_DS070607,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2,UMLS ID:C5543476,,,,,megacystis-microcolon-intestinal hypoperistalsis syndrome 2,MONDO:0025708,,,,,,OMIM ID:619351 | OMIM ID:160745 +BMGC_DS18421,BMG_DS070608,"ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET",UMLS ID:C5543478,,,,,"ataxia, intention tremor, and hypotonia syndrome, childhood-onset",MONDO:0859158,,,,,,OMIM ID:619352 | OMIM ID:601632 +BMGC_DS18422,BMG_DS070609,"DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY",UMLS ID:C5543482,,,,,"deafness, cataract, impaired intellectual development, and polyneuropathy",MONDO:0859159,,,,,,OMIM ID:619354 | OMIM ID:186852 +BMGC_DS18423,BMG_DS070610,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22",UMLS ID:C5543491,,,,,"mitochondrial complex IV deficiency, nuclear type 22",MONDO:0859160,,,mitochondrial complex IV deficiency nuclear type 22,DOID:0070507,,OMIM ID:618064 | OMIM ID:619355 +BMGC_DS18424,BMG_DS070611,"ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME",UMLS ID:C5543496,,,,,"onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome",MONDO:0859161,,,,,,OMIM ID:600153 | OMIM ID:619356 +BMGC_DS18425,BMG_DS070612,"ANGIOEDEMA, HEREDITARY, 4",UMLS ID:C5543503,,,,,"angioedema, hereditary, 4",MONDO:0025712,,,,,,OMIM ID:173350 | OMIM ID:619360 +BMGC_DS18426,BMG_DS070613,"ANGIOEDEMA, HEREDITARY, 5",UMLS ID:C5543508,,,,,"angioedema, hereditary, 5",MONDO:0030293,,,,,,OMIM ID:619361 | OMIM ID:601667 +BMGC_DS18427,BMG_DS070614,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3,UMLS ID:C5543513,,,,,megacystis-microcolon-intestinal hypoperistalsis syndrome 3,MONDO:0030294,,,,,,OMIM ID:602715 | OMIM ID:619362 +BMGC_DS18428,BMG_DS070615,"ANGIOEDEMA, HEREDITARY, 6",UMLS ID:C5543516,,,,,"angioedema, hereditary, 6",MONDO:0023660,,,,,,OMIM ID:612358 | OMIM ID:619363 +BMGC_DS18429,BMG_DS070616,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4,UMLS ID:C5543519,,,,,megacystis-microcolon-intestinal hypoperistalsis syndrome 4,MONDO:0030296,,,,,,OMIM ID:609905 | OMIM ID:619365 +BMGC_DS18430,BMG_DS070617,"ANGIOEDEMA, HEREDITARY, 7",UMLS ID:C5543526,,,,,"angioedema, hereditary, 7",MONDO:0025713,,,,,,OMIM ID:604603 | OMIM ID:619366 +BMGC_DS18431,BMG_DS070618,"ANGIOEDEMA, HEREDITARY, 8",UMLS ID:C5543528,,,,,"angioedema, hereditary, 8",MONDO:0030298,,,,,,OMIM ID:619210 | OMIM ID:619367 +BMGC_DS18432,BMG_DS070619,LYMPHATIC MALFORMATION 10,UMLS ID:C5543531,,,,,lymphatic malformation 10,MONDO:0023662,,,,,,OMIM ID:601922 | OMIM ID:619369 +BMGC_DS18433,BMG_DS070620,"CARDIOMYOPATHY, DILATED, 2D",UMLS ID:C5543535,,,,,"cardiomyopathy, dilated, 2D",MONDO:0030300,,,dilated cardiomyopathy 2D,DOID:0081160,,OMIM ID:617416 | OMIM ID:619371 +BMGC_DS18434,BMG_DS070621,NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS,UMLS ID:C5543538,,,,,neurodevelopmental disorder with infantile epileptic spasms,MONDO:0859162,,,,,,OMIM ID:619373 | OMIM ID:608458 +BMGC_DS18435,BMG_DS070622,IMMUNODEFICIENCY 81,UMLS ID:C5543540,,,,,immunodeficiency 81,MONDO:0030302,,,,,,OMIM ID:619374 | OMIM ID:601603 +BMGC_DS18436,BMG_DS070623,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY",UMLS ID:C5543547,,,,,autoinflammatory syndrome with immunodeficiency,MONDO:0800130,,,,,,OMIM ID:603597 | OMIM ID:619375 +BMGC_DS18437,BMG_DS070624,FAUNDES-BANKA SYNDROME,UMLS ID:C5543554,,,,,Faundes-Banka syndrome,MONDO:0859163,,,,,,OMIM ID:600187 | OMIM ID:619376 +BMGC_DS18438,BMG_DS070625,OSTEOOTOHEPATOENTERIC SYNDROME,UMLS ID:C5543557,,,,,osteootohepatoenteric syndrome,MONDO:0859164,,,,,,OMIM ID:611219 | OMIM ID:619377 +BMGC_DS18439,BMG_DS070626,SPERMATOGENIC FAILURE 54,UMLS ID:C5543570,,,,,spermatogenic failure 54,MONDO:0023664,,,spermatogenic failure 54,DOID:0112335,,OMIM ID:619387 | OMIM ID:619379 +BMGC_DS18440,BMG_DS070627,SPERMATOGENIC FAILURE 55,UMLS ID:C5543580,,,,,spermatogenic failure 55,MONDO:0030307,,,spermatogenic failure 55,DOID:0112337,,OMIM ID:619380 | OMIM ID:616554 +BMGC_DS18441,BMG_DS070628,IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION,UMLS ID:C5543581,,,,,immunodeficiency 82 with systemic inflammation,MONDO:0030308,,,,,,OMIM ID:600085 | OMIM ID:619381 +BMGC_DS18442,BMG_DS070629,"LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1",UMLS ID:C5543589,,,,,"Leber hereditary optic neuropathy, autosomal recessive",MONDO:0030309,,,,,,OMIM ID:618202 | OMIM ID:619382 +BMGC_DS18443,BMG_DS070630,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES",UMLS ID:C5543591,,,,,"neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities",MONDO:0859165,,,,,,OMIM ID:618159 | OMIM ID:619383 +BMGC_DS18444,BMG_DS070631,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52,UMLS ID:C5543592,,,,,combined oxidative phosphorylation deficiency 52,MONDO:0030311,,,combined oxidative phosphorylation deficiency 52,DOID:0070425,,OMIM ID:603485 | OMIM ID:619386 +BMGC_DS18445,BMG_DS070632,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29",UMLS ID:C5543595,,,,,"spinocerebellar ataxia, autosomal recessive 29",MONDO:0030312,,,autosomal recessive spinocerebellar ataxia 29,DOID:0070410,,OMIM ID:619389 | OMIM ID:605485 +BMGC_DS18446,BMG_DS070633,,UMLS ID:C5543600,,,,,"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10",MONDO:0030313,,,,,,OMIM ID:619396 +BMGC_DS18447,BMG_DS070634,LYMPHATIC MALFORMATION 11,UMLS ID:C5543614,,,,,lymphatic malformation 11,MONDO:0030316,,,,,,OMIM ID:619401 | OMIM ID:600222 +BMGC_DS18448,BMG_DS070635,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28",UMLS ID:C5543616,,,,,"cardiomyopathy, familial hypertrophic, 28",MONDO:0030317,,,,,,OMIM ID:619402 | OMIM ID:609691 +BMGC_DS18449,BMG_DS070636,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30",UMLS ID:C5543620,,,,,"spinocerebellar ataxia, autosomal recessive 30",MONDO:0030318,,,autosomal recessive spinocerebellar ataxia 30,DOID:0070411,,OMIM ID:619405 | OMIM ID:618211 +BMGC_DS18450,BMG_DS070637,HYPOKALEMIC TUBULOPATHY AND DEAFNESS,UMLS ID:C5543621,,,,,hypokalemic tubulopathy and deafness,MONDO:0859167,,,,,,OMIM ID:605722 | OMIM ID:619406 +BMGC_DS18451,BMG_DS070638,WHIM SYNDROME 2,UMLS ID:C5543622,,,,,WHIM syndrome 2,MONDO:0030374,,,WHIM syndrome 2,DOID:0060973,,OMIM ID:619407 | OMIM ID:146928 +BMGC_DS18452,BMG_DS070639,"NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2",UMLS ID:C5543623,,,,,"neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2",MONDO:0030375,,,,,,OMIM ID:603623 | OMIM ID:619418 +BMGC_DS18453,BMG_DS070640,MARTSOLF SYNDROME 2,UMLS ID:C5543626,,,,,Martsolf syndrome 2,MONDO:0030376,,,,,,OMIM ID:602536 | OMIM ID:619420 +BMGC_DS18454,BMG_DS070641,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31",UMLS ID:C5543627,,,,,"spinocerebellar ataxia, autosomal recessive 31",MONDO:0030323,,,autosomal recessive spinocerebellar ataxia 31,DOID:0070412,,OMIM ID:619422 | OMIM ID:608760 +BMGC_DS18455,BMG_DS070642,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53,UMLS ID:C5543631,,,,,combined oxidative phosphorylation deficiency 53,MONDO:0030378,,,combined oxidative phosphorylation deficiency 53,DOID:0070426,,OMIM ID:619423 | OMIM ID:619219 +BMGC_DS18456,BMG_DS070643,MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE),UMLS ID:C5543632,,,,,mitochondrial dna depletion syndrome 16B (neuroophthalmic type),MONDO:0030326,,,mitochondrial DNA depletion syndrome 16B,DOID:0070447,,OMIM ID:604983 | OMIM ID:619425 +BMGC_DS18457,BMG_DS070644,WHITE-KERNOHAN SYNDROME,UMLS ID:C5543635,,,,,White-Kernohan syndrome,MONDO:0859169,,,,,,OMIM ID:600045 | OMIM ID:619426 +BMGC_DS18458,BMG_DS070645,MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5,UMLS ID:C5543636,,,,,megacystis-microcolon-intestinal hypoperistalsis syndrome 5,MONDO:0030329,,,,,,OMIM ID:619431 | OMIM ID:102545 +BMGC_DS18459,BMG_DS070646,"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6",UMLS ID:C5543638,,,,,"cardiomyopathy, familial restrictive, 6",MONDO:0030330,,,,,,OMIM ID:619433 | OMIM ID:605664 +BMGC_DS18460,BMG_DS070647,"CILIARY DYSKINESIA, PRIMARY, 46",UMLS ID:C5543646,,,,,"ciliary dyskinesia, primary, 46",MONDO:0030332,,,,,,OMIM ID:619436 | OMIM ID:607652 +BMGC_DS18461,BMG_DS070648,"HYPERTRIIODOTHYRONINEMIA, FAMILIAL DYSALBUMINEMIC",UMLS ID:C5543652,,,,,,,,,,,,OMIM ID:615999 | OMIM ID:103600 +BMGC_DS18462,BMG_DS070678,Neuroinflammatory Diseases,UMLS ID:C5544451,,,,,,,Neuroinflammatory Diseases,MeSH ID:D000090862,,,, +BMGC_DS18463,BMG_DS070680,Dominantly-Inherited Spinocerebellar Ataxias,UMLS ID:C5544494,,,,,,,Spinocerebellar Ataxias,MeSH ID:D020754,,,, +BMGC_DS18464,BMG_DS070692,Chronic Condition,UMLS ID:C5545294,,,,,,,Chronic Disease,MeSH ID:D002908,,,, +BMGC_DS18465,BMG_DS070790,Recurrent infection due to specific granule deficiency,UMLS ID:C5546032,Recurrent infection due to specific granule deficiency | Recurrent infection due to specific granule deficiency (disorder),SNOMEDCT ID:1144934003,,,,,,,,,, +BMGC_DS18466,BMG_DS070883,,UMLS ID:C5546764,,,,,bullous diffuse cutaneous mastocytosis,MONDO:0017243,,,,,, +BMGC_DS18467,BMG_DS071119,Progressive supranuclear palsy corticobasal syndrome,UMLS ID:C5548189,Progressive supranuclear palsy corticobasal syndrome (disorder) | Progressive supranuclear palsy corticobasal syndrome,SNOMEDCT ID:1156763004,,,progressive supranuclear palsy-corticobasal syndrome,MONDO:0016563,,,,,, +BMGC_DS18468,BMG_DS071124,Atypical glycine encephalopathy,UMLS ID:C5548198,Atypical glycine encephalopathy | Atypical glycine encephalopathy (disorder) | Atypical non-ketotic hyperglycinemia | Atypical non-ketotic hyperglycinaemia,SNOMEDCT ID:1156791007,,,,,,,,,, +BMGC_DS18469,BMG_DS071125,Neonatal glycine encephalopathy,UMLS ID:C5548200,Neonatal glycine encephalopathy (disorder) | Neonatal glycine encephalopathy | Neonatal non-ketotic hyperglycinemia | Neonatal non-ketotic hyperglycinaemia,SNOMEDCT ID:1156803005,,,neonatal glycine encephalopathy,MONDO:0017353,,,,,, +BMGC_DS18470,BMG_DS071126,,UMLS ID:C5548205,,,,,familial adenomatous polyposis due to 5q22.2 microdeletion,MONDO:0016860,,,,,, +BMGC_DS18471,BMG_DS071130,Infantile glycine encephalopathy,UMLS ID:C5548209,Infantile glycine encephalopathy (disorder) | Infantile glycine encephalopathy | Infantile non-ketotic hyperglycinaemia | Infantile non-ketotic hyperglycinemia,SNOMEDCT ID:1156826003,,,infantile glycine encephalopathy,MONDO:0017354,,,,,, +BMGC_DS18472,BMG_DS071133,Autosomal dominant distal hereditary motor neuropathy,UMLS ID:C5548212,Autosomal dominant distal hereditary motor neuropathy (disorder) | Autosomal dominant distal hereditary motor neuropathy,SNOMEDCT ID:1156837002,,,"neuronopathy, distal hereditary motor, autosomal dominant",MONDO:0015362,,,,,, +BMGC_DS18473,BMG_DS071134,X-linked thrombocytopenia with normal platelets,UMLS ID:C5548213,X-linked thrombocytopenia with normal platelets (disorder) | X-linked thrombocytopenia with normal platelets | X-linked thrombocytopaenia with normal platelets,SNOMEDCT ID:1156838007,,,,,,,,,, +BMGC_DS18474,BMG_DS071188,Autosomal recessive distal hereditary motor neuropathy,UMLS ID:C5548369,Autosomal recessive distal hereditary motor neuropathy (disorder) | Autosomal recessive distal hereditary motor neuropathy,SNOMEDCT ID:1156850001,,,"neuronopathy, distal hereditary motor, autosomal recessive",MONDO:0015363,,,,,, +BMGC_DS18475,BMG_DS071189,Progressive supranuclear palsy parkinsonism syndrome,UMLS ID:C5548370,Progressive supranuclear palsy parkinsonism syndrome (disorder) | Progressive supranuclear palsy parkinsonism syndrome,SNOMEDCT ID:1156764005,,,,,,,,,, +BMGC_DS18476,BMG_DS071202,Crigler-Najjar syndrome,UMLS ID:C5551003,"Crigler-Najjar syndrome | Crigler-Najjar syndrome (disorder) | Crigler-Najjar syndrome, type I | Deficiency of glucuronosyltransferase | Glucuronyltransferase deficiency | UDP glucuronyl transferase deficiency | Crigler-Najjar type 1 | Bilirubin UDP glucuronyl transferase deficiency | Bilirubin glucuronosyltransferase deficiency | Crigler-Najjar syndrome type I | Crigler-Najjar syndrome, type I (disorder)",SNOMEDCT ID:28259009 | SNOMEDCT ID:8933000,CriglerNajjar syndrome,ICD11 ID:5C58.00,Crigler-Najjar syndrome,MONDO:0009044,,,,,ICD10 ID:E80.5, +BMGC_DS18477,BMG_DS071204,"HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2",UMLS ID:C5551172,,,,,"hypoalphalipoproteinemia, primary, 2",MONDO:0032766,,,primary hypoalphalipoproteinemia 2,DOID:0080958,,OMIM ID:107680 | OMIM ID:618463 +BMGC_DS18478,BMG_DS071209,Trichuriasis,UMLS ID:C5551334,Trichuriasis | Trichocephaliasis | Whipworm infection | Trichuriosis | Trichuriasis - whipworm | Trichuriasis (disorder) | Infection by Trichuris | Trichuriasis | Trichuriasis (disorder),SNOMEDCT ID:3752003 | SNOMEDCT ID:154413002,,,trichuriasis,MONDO:0005996,,,,,ICD10 ID:B79, +BMGC_DS18479,BMG_DS071210,"DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT",UMLS ID:C5551343,,,,,"dyskinesia with orofacial involvement, autosomal dominant",MONDO:0800028,,,,,,OMIM ID:606703 | OMIM ID:600293 +BMGC_DS18480,BMG_DS071211,AICARDI-GOUTIERES SYNDROME 8,UMLS ID:C5551352,,,,,Aicardi-Goutieres syndrome 8,MONDO:0030361,,,,,,OMIM ID:619486 | OMIM ID:617910 +BMGC_DS18481,BMG_DS071212,Infection of skin and/or subcutaneous tissue,UMLS ID:C5551358,Infective dermatological disorders | Skin infection | Skin and subcutaneous tissue infection | Infection of skin and/or subcutaneous tissue (disorder) | Infection of skin and/or subcutaneous tissue,SNOMEDCT ID:19824006,,,,,,,,,, +BMGC_DS18482,BMG_DS071214,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM,UMLS ID:C5551361,,,,,neurodevelopmental disorder with dysmorphic facies and thin corpus callosum,MONDO:0859179,,,neurodevelopmental disorder with dysmorphic facies and thin corpus callosum,DOID:0070469,,OMIM ID:605012 | OMIM ID:619480 +BMGC_DS18483,BMG_DS071215,NEUROOCULAR SYNDROME 1,UMLS ID:C5551362,,,,,neuroocular syndrome,MONDO:0859193,,,,,,OMIM ID:616633 | OMIM ID:619539 +BMGC_DS18484,BMG_DS071217,"CEROID LIPOFUSCINOSIS, NEURONAL, 6A",UMLS ID:C5551375,,,,,"ceroid lipofuscinosis, neuronal, 6A",MONDO:0011144,,,,,,OMIM ID:601780 | OMIM ID:606725 +BMGC_DS18485,BMG_DS071220,"Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive",UMLS ID:C5551399,,,,,,,,MeSH ID:C537480,Miyoshi muscular dystrophy,DOID:0070198,, +BMGC_DS18486,BMG_DS071221,Typical absence seizure,UMLS ID:C5551411,Typical absence seizure (disorder) | Typical absence seizure | Typical absence seizure | Typical absence seizure (finding),SNOMEDCT ID:432241000124101 | SNOMEDCT ID:1173024006,,,,,,,,,, +BMGC_DS18487,BMG_DS071223,,UMLS ID:C5551428,,,,,testicular seminoma,MONDO:0003669,,,,,, +BMGC_DS18488,BMG_DS071224,,UMLS ID:C5551440,,,,,coxa vara,MONDO:0007391,,,,,,OMIM ID:122750 +BMGC_DS18489,BMG_DS071227,"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE",UMLS ID:C5551484,,,,,"otospondylomegaepiphyseal dysplasia, autosomal recessive",MONDO:0044206,,,"otospondylomegaepiphyseal dysplasia, autosomal recessive",DOID:0080026,,OMIM ID:215150 | OMIM ID:120290 +BMGC_DS18490,BMG_DS071229,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 21",UMLS ID:C5551510,,,,,"intellectual disability, X-linked 21",MONDO:0010256,,,non-syndromic X-linked intellectual disability 21,DOID:0112022,,OMIM ID:300206 | OMIM ID:300143 +BMGC_DS18491,BMG_DS071232,Generalized seborrheic dermatitis of infants,UMLS ID:C5551904,Generalized seborrheic dermatitis of infants | Leiner's disease | Erythroderma desquamativum | Infantile seborrheic dermatitis | Infantile seborrhoeic dermatitis | Generalised seborrhoeic dermatitis of infants | Generalized seborrheic dermatitis of infants (disorder),SNOMEDCT ID:7297005,,,erythroderma desquamativum,MONDO:0017787,,,,,, +BMGC_DS18492,BMG_DS071233,,UMLS ID:C5552731,,,,,continuous spikes and waves during sleep,MONDO:0019123,,,,,, +BMGC_DS18493,BMG_DS071234,,UMLS ID:C5552985,,,,,"erythroleukemia, familial, susceptibility to",MONDO:0007573,,,,,,OMIM ID:133180 +BMGC_DS18494,BMG_DS071235,Miyoshi myopathy,UMLS ID:C5553104,,,,,Miyoshi myopathy,MONDO:0009685,,MeSH ID:C537480,Miyoshi muscular dystrophy,DOID:0070198,, +BMGC_DS18495,BMG_DS071240,,UMLS ID:C5554190,,,,,SMARCA4-deficient sarcoma of thorax,MONDO:0018761,,,,,, +BMGC_DS18496,BMG_DS071241,,UMLS ID:C5554234,,,,,"multiple system atrophy, cerebellar type",MONDO:0016418,,,,,, +BMGC_DS18497,BMG_DS071242,,UMLS ID:C5554235,,,,,"multiple system atrophy, parkinsonian type",MONDO:0020352,,,,,, +BMGC_DS18498,BMG_DS071257,,UMLS ID:C5555857,,,,,RASopathy,MONDO:0021060,,,,,, +BMGC_DS18499,BMG_DS071258,Intermediate epidermolysis bullosa simplex with cardiomyopathy,UMLS ID:C5555869,Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) | Intermediate epidermolysis bullosa simplex with cardiomyopathy,SNOMEDCT ID:1177176009,,,,,,,,,, +BMGC_DS18500,BMG_DS071260,,UMLS ID:C5557428,,,,,,,,,uterine ligament adenocarcinoma,DOID:3700,, +BMGC_DS18501,BMG_DS071261,,UMLS ID:C5557429,,,,,,,,,uterine ligament mucinous adenocarcinoma,DOID:3699,, +BMGC_DS18502,BMG_DS071262,,UMLS ID:C5557430,,,,,,,,,uterine ligament endometrioid adenocarcinoma,DOID:5829,, +BMGC_DS18503,BMG_DS071263,,UMLS ID:C5557431,,,,,,,,,uterine ligament clear cell adenocarcinoma,DOID:5302,, +BMGC_DS18504,BMG_DS071264,,UMLS ID:C5557432,,,,,,,,,endometrial type cervical adenomyoma,DOID:8178,, +BMGC_DS18505,BMG_DS071275,"EPIDERMOLYSIS BULLOSA SIMPLEX 1B, GENERALIZED INTERMEDIATE",UMLS ID:C5561924,,,,,"epidermolysis bullosa simplex 1B, generalized intermediate",MONDO:0007554,,,epidermolysis bullosa simplex generalized type,DOID:0080511,,OMIM ID:131900 | OMIM ID:148066 +BMGC_DS18506,BMG_DS071276,RETINITIS PIGMENTOSA 91,UMLS ID:C5561925,,,,,benign concentric annular macular dystrophy,MONDO:0007934,,,,,,OMIM ID:153870 | OMIM ID:602870 +BMGC_DS18507,BMG_DS071277,INTERSTITIAL LUNG DISEASE 2,UMLS ID:C5561926,,,,,interstitial lung disease 2,MONDO:0800029,,,interstitial lung disease 2,DOID:0060971,,OMIM ID:178500 | OMIM ID:178642 +BMGC_DS18508,BMG_DS071278,"CEROID LIPOFUSCINOSIS, NEURONAL, 6B (KUFS TYPE)",UMLS ID:C5561927,,,,,"ceroid lipofuscinosis, neuronal, 6B (Kufs type)",MONDO:0008768,,,,,,OMIM ID:606725 | OMIM ID:204300 +BMGC_DS18509,BMG_DS071279,,UMLS ID:C5561928,,,,,anencephaly 1,MONDO:0008791,,,,,,OMIM ID:206500 +BMGC_DS18510,BMG_DS071280,"LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1",UMLS ID:C5561929,,,,,"leukoencephalopathy, diffuse hereditary, with spheroids 1",MONDO:0800027,,,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,DOID:0080523,,OMIM ID:221820 +BMGC_DS18511,BMG_DS071281,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES",UMLS ID:C5561930,,,,,"intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies",MONDO:0859080,,,,,,OMIM ID:301066 | OMIM ID:314310 +BMGC_DS18512,BMG_DS071282,,UMLS ID:C5561931,,,,,"epilepsy, idiopathic generalized, susceptibility to, 17",MONDO:0100519,,,,,,OMIM ID:602477 +BMGC_DS18513,BMG_DS071283,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 11",UMLS ID:C5561932,,,,,,,,,familial febrile seizures 2,DOID:0111310,,OMIM ID:602477 | OMIM ID:602781 +BMGC_DS18514,BMG_DS071284,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG",UMLS ID:C5561933,,,,,"Charcot-Marie-Tooth Disease, axonal, type 2GG",MONDO:0011675,,,,,,OMIM ID:603698 | OMIM ID:606483 +BMGC_DS18515,BMG_DS071285,"BILE ACID MALABSORPTION, PRIMARY, 1",UMLS ID:C5561934,,,,,"bile acid malabsorption, primary, 1",MONDO:0013214,,,,,,OMIM ID:613291 | OMIM ID:601295 +BMGC_DS18516,BMG_DS071286,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL RECESSIVE",UMLS ID:C5561935,,,,,STT3A-congenital disorder of glycosylation,MONDO:0014270,,,congenital disorder of glycosylation Iw,DOID:0080572,,OMIM ID:615596 | OMIM ID:601134 +BMGC_DS18517,BMG_DS071287,BARDET-BIEDL SYNDROME 22,UMLS ID:C5561936,,,,,Bardet-Biedl syndrome 22,MONDO:0014926,,,Bardet-Biedl syndrome 22,DOID:0081011,,OMIM ID:608040 | OMIM ID:617119 +BMGC_DS18518,BMG_DS071288,"MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY",UMLS ID:C5561937,,,,,"myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy",MONDO:0859168,,,,,,OMIM ID:160781 | OMIM ID:619424 +BMGC_DS18519,BMG_DS071289,FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5561938,,,,,focal segmental glomerulosclerosis and neurodevelopmental syndrome,MONDO:0100111,,,,,,OMIM ID:606125 | OMIM ID:619428 +BMGC_DS18520,BMG_DS071290,RITSCHER-SCHINZEL SYNDROME 4,UMLS ID:C5561939,,,,,Ritscher-Schinzel syndrome 4,MONDO:0030331,,,,,,OMIM ID:608383 | OMIM ID:619435 +BMGC_DS18521,BMG_DS071291,IMMUNODEFICIENCY 84,UMLS ID:C5561940,,,,,immunodeficiency 84,MONDO:0030333,,,,,,OMIM ID:606221 | OMIM ID:619437 +BMGC_DS18522,BMG_DS071292,,UMLS ID:C5561941,,,,,"encephalitis, acute, infection (viral)-induced, susceptibility to, 11",MONDO:0030334,,,,,,OMIM ID:619441 +BMGC_DS18523,BMG_DS071293,"DIARRHEA 12, WITH MICROVILLUS ATROPHY",UMLS ID:C5561942,,,,,"diarrhea 12, with microvillus atrophy",MONDO:0030335,,,,,,OMIM ID:600876 | OMIM ID:619445 +BMGC_DS18524,BMG_DS071294,RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE,UMLS ID:C5561943,,,,,retinal dystrophy and microvillus inclusion disease,MONDO:0859170,,,,,,OMIM ID:619446 | OMIM ID:600876 +BMGC_DS18525,BMG_DS071295,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE",UMLS ID:C5561944,,,,,"cutis laxa, autosomal recessive, type 2E",MONDO:0030337,,,,,,OMIM ID:619451 | OMIM ID:150390 +BMGC_DS18526,BMG_DS071296,,UMLS ID:C5561945,,,,,anencephaly 2,MONDO:0030338,,,,,,OMIM ID:619452 +BMGC_DS18527,BMG_DS071297,LUO-SCHOCH-YAMAMOTO SYNDROME,UMLS ID:C5561946,,,,,Luo-Schoch-Yamamoto syndrome,MONDO:0859171,,,Luo-Schoch-Yamamoto syndrome,DOID:0070416,,OMIM ID:619460 | OMIM ID:608985 +BMGC_DS18528,BMG_DS071298,"MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE",UMLS ID:C5561947,,,,,"myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive",MONDO:0030341,,,,,,OMIM ID:600104 | OMIM ID:619461 +BMGC_DS18529,BMG_DS071299,"PORTAL HYPERTENSION, NONCIRRHOTIC, 2",UMLS ID:C5561948,,,,,"portal hypertension, noncirrhotic, 2",MONDO:0030397,,,,,,OMIM ID:608086 | OMIM ID:619463 +BMGC_DS18530,BMG_DS071300,SICK SINUS SYNDROME 4,UMLS ID:C5561949,,,,,sick sinus syndrome 4,MONDO:0859173,,,,,,OMIM ID:139390 | OMIM ID:619464 +BMGC_DS18531,BMG_DS071301,"VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE",UMLS ID:C5561950,,,,,"visceral neuropathy, familial, 2, autosomal recessive",MONDO:0030399,,,,,,OMIM ID:164870 | OMIM ID:619465 +BMGC_DS18532,BMG_DS071302,"CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY",UMLS ID:C5561951,,,,,"ciliary dyskinesia, primary, 47, and lissencephaly",MONDO:0030346,,,,,,OMIM ID:601990 | OMIM ID:619466 +BMGC_DS18533,BMG_DS071303,"USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT",UMLS ID:C5561952,,,,,"Usmani-Riazuddin syndrome, autosomal dominant",MONDO:0859174,,,,,,OMIM ID:619467 | OMIM ID:603533 +BMGC_DS18534,BMG_DS071304,NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2,UMLS ID:C5561953,,,,,nephronophthisis-like nephropathy 2,MONDO:0859175,,,,,,OMIM ID:619468 | OMIM ID:610801 +BMGC_DS18535,BMG_DS071305,NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5561954,,,,,neurodevelopmental disorder with motor and speech delay and behavioral abnormalities,MONDO:0859176,,,,,,OMIM ID:619469 | OMIM ID:619470 +BMGC_DS18536,BMG_DS071306,VISS SYNDROME,UMLS ID:C5561955,,,,,VISS syndrome,MONDO:0859177,,,,,,OMIM ID:619472 | OMIM ID:605600 +BMGC_DS18537,BMG_DS071307,OCULOPHARYNGODISTAL MYOPATHY 3,UMLS ID:C5561956,,,,,oculopharyngodistal myopathy 3,MONDO:0023671,,,oculopharyngodistal myopathy 3,DOID:0081299,,OMIM ID:619473 | OMIM ID:618025 +BMGC_DS18538,BMG_DS071308,,UMLS ID:C5561957,,,,,"developmental delay, impaired speech, and behavioral abnormalities",MONDO:0859178,,,,,,OMIM ID:619475 +BMGC_DS18539,BMG_DS071309,JOUBERT SYNDROME 38,UMLS ID:C5561958,,,,,Joubert syndrome 38,MONDO:0030353,,,,,,OMIM ID:619476 | OMIM ID:617112 +BMGC_DS18540,BMG_DS071310,"FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC",UMLS ID:C5561959,,,,,"facioscapulohumeral muscular dystrophy 3, digenic",MONDO:0030354,,,facioscapulohumeral muscular dystrophy 3,DOID:0060917,,OMIM ID:619477 | OMIM ID:615354 +BMGC_DS18541,BMG_DS071311,"FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC",UMLS ID:C5561960,,,,,"facioscapulohumeral muscular dystrophy 4, digenic",MONDO:0030355,,,facioscapulohumeral muscular dystrophy 4,DOID:0060918,,OMIM ID:619478 | OMIM ID:602900 +BMGC_DS18542,BMG_DS071312,SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY,UMLS ID:C5561961,,,,,short-rib thoracic dysplasia 21 without polydactyly,MONDO:0030356,,,,,,OMIM ID:619479 +BMGC_DS18543,BMG_DS071313,"BILE ACID MALABSORPTION, PRIMARY, 2",UMLS ID:C5561962,,,,,"bile acid malabsorption, primary, 2",MONDO:0859180,,,,,,OMIM ID:612085 | OMIM ID:619481 +BMGC_DS18544,BMG_DS071314,"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION",UMLS ID:C5561963,,,,,"central hypoventilation syndrome, congenital, 2, and autonomic dysfunction",MONDO:0030537,,,,,,OMIM ID:614636 | OMIM ID:619482 +BMGC_DS18545,BMG_DS071315,"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3",UMLS ID:C5561964,,,,,"central hypoventilation syndrome, congenital, 3",MONDO:0030539,,,,,,OMIM ID:604255 | OMIM ID:619483 +BMGC_DS18546,BMG_DS071316,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6",UMLS ID:C5561965,,,,,"cholestasis, progressive familial intrahepatic, 6",MONDO:0030360,,,,,,OMIM ID:612084 | OMIM ID:619484 +BMGC_DS18547,BMG_DS071317,AICARDI-GOUTIERES SYNDROME 9,UMLS ID:C5561966,,,,,Aicardi-Goutieres syndrome 9,MONDO:0030362,,,,,,OMIM ID:617876 | OMIM ID:619487 +BMGC_DS18548,BMG_DS071318,DEGCAGS SYNDROME,UMLS ID:C5561967,,,,,DEGCAGS syndrome,MONDO:0859181,,,,,,OMIM ID:609571 | OMIM ID:619488 +BMGC_DS18549,BMG_DS071319,"SHORT STATURE, DAUBER-ARGENTE TYPE",UMLS ID:C5561968,,,,,"Short stature, Dauber-Argente type",MONDO:0859182,,,,,,OMIM ID:619485 | OMIM ID:619489 +BMGC_DS18550,BMG_DS071320,,UMLS ID:C5561969,,,,,"Parkinson disease 24, autosomal dominant, susceptibility to",MONDO:0859183,,,,,,OMIM ID:619491 +BMGC_DS18551,BMG_DS071321,"CARDIOMYOPATHY, DILATED, 2E",UMLS ID:C5561970,,,,,"cardiomyopathy, dilated, 2E",MONDO:0030366,,,dilated cardiomyopathy 2E,DOID:0081161,,OMIM ID:605267 | OMIM ID:619492 +BMGC_DS18552,BMG_DS071322,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v",UMLS ID:C5561971,,,,,"congenital disorder of glycosylation, type 2v",MONDO:0030423,,,,,,OMIM ID:619493 | OMIM ID:610214 +BMGC_DS18553,BMG_DS071323,"DEAFNESS, AUTOSOMAL DOMINANT 81",UMLS ID:C5561972,,,,,"hearing loss, autosomal dominant 81",MONDO:0030549,,,autosomal dominant nonsyndromic deafness 81,DOID:0070608,,OMIM ID:615427 | OMIM ID:619500 +BMGC_DS18554,BMG_DS071324,VENTRICULOMEGALY AND ARTHROGRYPOSIS,UMLS ID:C5561973,,,,,ventriculomegaly and arthrogryposis,MONDO:0859184,,,,,,OMIM ID:619501 | OMIM ID:615759 +BMGC_DS18555,BMG_DS071325,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES,UMLS ID:C5561974,,,,,neurodevelopmental disorder with hypotonia and dysmorphic facies,MONDO:0859185,,,,,,OMIM ID:619503 | OMIM ID:139390 +BMGC_DS18556,BMG_DS071326,CHOPRA-AMIEL-GORDON SYNDROME,UMLS ID:C5561975,,,,,Chopra-Amiel-Gordon syndrome,MONDO:0859186,,,,,,OMIM ID:615929 | OMIM ID:619504 +BMGC_DS18557,BMG_DS071327,IMMUNODEFICIENCY 85 AND AUTOIMMUNITY,UMLS ID:C5561976,,,,,immunodeficiency 85 and autoimmunity,MONDO:0030428,,,,,,OMIM ID:604700 | OMIM ID:619510 +BMGC_DS18558,BMG_DS071328,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES,UMLS ID:C5561977,,,,,neurodevelopmental disorder with hypotonia and brain abnormalities,MONDO:0859187,,,,,,OMIM ID:600580 | OMIM ID:619512 +BMGC_DS18559,BMG_DS071329,SPERMATOGENIC FAILURE 56,UMLS ID:C5561978,,,,,spermatogenic failure 56,MONDO:0030430,,,spermatogenic failure 56,DOID:0112336,,OMIM ID:605884 | OMIM ID:619515 +BMGC_DS18560,BMG_DS071330,NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES,UMLS ID:C5561979,,,,,neurodevelopmental disorder with seizures and brain abnormalities,MONDO:0859188,,,,,,OMIM ID:619517 | OMIM ID:600580 +BMGC_DS18561,BMG_DS071331,"MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME",UMLS ID:C5561980,,,,,"muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome",MONDO:0859189,,,,,,OMIM ID:606982 | OMIM ID:619518 +BMGC_DS18562,BMG_DS071332,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF",UMLS ID:C5561981,,,,,"Charcot-Marie-Tooth disease, axonal, type 2FF",MONDO:0030433,,,,,,OMIM ID:609743 | OMIM ID:619519 +BMGC_DS18563,BMG_DS071333,,UMLS ID:C5561983,,,,,"epilepsy, idiopathic generalized, susceptibility to, 18",MONDO:0030434,,,,,,OMIM ID:619521 +BMGC_DS18564,BMG_DS071334,NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES,UMLS ID:C5561984,,,,,neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities,MONDO:0859190,,,,,,OMIM ID:602221 | OMIM ID:619522 +BMGC_DS18565,BMG_DS071335,"ANEMIA, SIDEROBLASTIC, 5",UMLS ID:C5561985,,,,,"anemia, sideroblastic, 5",MONDO:0030436,,,sideroblastic anemia 5,DOID:0061007,,OMIM ID:619523 | OMIM ID:608142 +BMGC_DS18566,BMG_DS071336,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw",UMLS ID:C5561986,,,,,"congenital disorder of glycosylation, type IIw",MONDO:0030437,,,,,,OMIM ID:619525 | OMIM ID:602671 +BMGC_DS18567,BMG_DS071337,"PONTOCEREBELLAR HYPOPLASIA, TYPE 16",UMLS ID:C5561987,,,,,"pontocerebellar hypoplasia, type 16",MONDO:0030438,,,pontocerebellar hypoplasia type 16,DOID:0112333,,OMIM ID:619527 | OMIM ID:605391 +BMGC_DS18568,BMG_DS071338,SPERMATOGENIC FAILURE 57,UMLS ID:C5561988,,,,,spermatogenic failure 57,MONDO:0030439,,,spermatogenic failure 57,DOID:0112338,,OMIM ID:619528 | OMIM ID:619529 +BMGC_DS18569,BMG_DS071339,CONE-ROD DYSTROPHY 22,UMLS ID:C5561989,,,,,cone-rod dystrophy 22,MONDO:0030440,,,cone-rod dystrophy 22,DOID:0081448,,OMIM ID:615175 | OMIM ID:619531 +BMGC_DS18570,BMG_DS071340,"BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME",UMLS ID:C5561990,,,,,"biliary, renal, neurologic, and skeletal syndrome",MONDO:0859191,,,,,,OMIM ID:617453 | OMIM ID:619534 +BMGC_DS18571,BMG_DS071341,,UMLS ID:C5561991,,,,,cerebral cavernous malformation 4,MONDO:0859192,,,,,,OMIM ID:619538 +BMGC_DS18572,BMG_DS071342,BOUDIN-MORTIER SYNDROME,UMLS ID:C5561992,,,,,Boudin-Mortier syndrome,MONDO:0859194,,,,,,OMIM ID:108962 | OMIM ID:619543 +BMGC_DS18573,BMG_DS071343,"USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE",UMLS ID:C5561994,,,,,"Usmani-Riazuddin syndrome, autosomal recessive",MONDO:0859196,,,,,,OMIM ID:603533 | OMIM ID:619548 +BMGC_DS18574,BMG_DS071344,IMMUNODEFICIENCY 86,UMLS ID:C5561995,,,,,immunodeficiency 86,MONDO:0030448,,,,,,OMIM ID:619549 | OMIM ID:608238 +BMGC_DS18575,BMG_DS071345,"DEAFNESS, AUTOSOMAL RECESSIVE 118, WITH COCHLEAR APLASIA",UMLS ID:C5561996,,,,,"hearing loss, autosomal recessive 118, with cochlear aplasia",MONDO:0030449,,,,,,OMIM ID:619553 +BMGC_DS18576,BMG_DS071346,"INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES",UMLS ID:C5561997,,,,,"intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",MONDO:0859197,,,"intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies",DOID:0081262,,OMIM ID:619556 | OMIM ID:603002 +BMGC_DS18577,BMG_DS071347,"SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES",UMLS ID:C5561998,,,,,"short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies",MONDO:0859198,,,,,,OMIM ID:615894 | OMIM ID:619557 +BMGC_DS18578,BMG_DS071348,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97,UMLS ID:C5561999,,,,,developmental and epileptic encephalopathy 97,MONDO:0030453,,,developmental and epileptic encephalopathy 97,DOID:0070383,,OMIM ID:602538 | OMIM ID:619561 +BMGC_DS18579,BMG_DS071349,JOUBERT SYNDROME 39,UMLS ID:C5562000,,,,,Joubert syndrome 39,MONDO:0030454,,,,,,OMIM ID:619285 | OMIM ID:619562 +BMGC_DS18580,BMG_DS071350,DYSTONIA 31,UMLS ID:C5562001,,,,,dystonia 31,MONDO:0030455,,,dystonia 31,DOID:0060938,,OMIM ID:619600 | OMIM ID:619565 +BMGC_DS18581,BMG_DS071351,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27",UMLS ID:C5562002,,,,,"muscular dystrophy, limb-girdle, autosomal recessive 27",MONDO:0030456,,,,,,OMIM ID:619566 | OMIM ID:602570 +BMGC_DS18582,BMG_DS071352,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH",UMLS ID:C5562003,,,,,"Charcot-Marie-Tooth disease, axonal, Type 2HH",MONDO:0030458,,,,,,OMIM ID:619574 | OMIM ID:601920 +BMGC_DS18583,BMG_DS071353,DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES,UMLS ID:C5562004,,,,,developmental delay with or without intellectual impairment or behavioral abnormalities,MONDO:0859199,,,,,,OMIM ID:619575 +BMGC_DS18584,BMG_DS071354,"CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS",UMLS ID:C5562005,,,,,"cerebellar ataxia, brain abnormalities, and cardiac conduction defects",MONDO:0859200,,,,,,OMIM ID:619576 | OMIM ID:606492 +BMGC_DS18585,BMG_DS071355,NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES,UMLS ID:C5562006,,,,,neurodevelopmental disorder with impaired language and ataxia and with or without seizures,MONDO:0859201,,,,,,OMIM ID:619580 +BMGC_DS18586,BMG_DS071356,JOUBERT SYNDROME 40,UMLS ID:C5562007,,,,,Joubert syndrome 40,MONDO:0030462,,,,,,OMIM ID:608040 | OMIM ID:619582 +BMGC_DS18587,BMG_DS071357,SPERMATOGENIC FAILURE 58,UMLS ID:C5562008,,,,,spermatogenic failure 58,MONDO:0030463,,,spermatogenic failure 58,DOID:0112352,,OMIM ID:608040 | OMIM ID:619585 +BMGC_DS18588,BMG_DS071358,"EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE",UMLS ID:C5562009,,,,,"epidermolysis bullosa simplex 2B, generalized intermediate",MONDO:0030525,,,,,,OMIM ID:619588 | OMIM ID:148040 +BMGC_DS18589,BMG_DS071359,CATARACT 49,UMLS ID:C5562010,,,,,cataract 49,MONDO:0030465,,,,,,OMIM ID:619593 +BMGC_DS18590,BMG_DS071360,"EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED",UMLS ID:C5562011,,,,,"epidermolysis bullosa simplex 2C, localized",MONDO:0030527,,,,,,OMIM ID:619594 | OMIM ID:148040 +BMGC_DS18591,BMG_DS071361,"DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES",UMLS ID:C5562012,,,,,"developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities",MONDO:0859202,,,,,,OMIM ID:619595 | OMIM ID:611421 +BMGC_DS18592,BMG_DS071362,"RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE",UMLS ID:C5562013,,,,,"rhizomelic dysplasia, Ain-Naz type",MONDO:0859203,,,,,,OMIM ID:616510 | OMIM ID:619598 +BMGC_DS18593,BMG_DS071363,"EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE",UMLS ID:C5562014,,,,,"epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive",MONDO:0030535,,,,,,OMIM ID:619599 +BMGC_DS18594,BMG_DS071364,"FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES",UMLS ID:C5562015,,,,,"fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies",MONDO:0859204,,,,,,OMIM ID:182340 | OMIM ID:619602 +BMGC_DS18595,BMG_DS071365,GALLOWAY-MOWAT SYNDROME 9,UMLS ID:C5562016,,,,,Galloway-Mowat syndrome 9,MONDO:0030471,,,,,,OMIM ID:617436 | OMIM ID:619603 +BMGC_DS18596,BMG_DS071366,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98,UMLS ID:C5562017,,,,,developmental and epileptic encephalopathy 98,MONDO:0030472,,,developmental and epileptic encephalopathy 98,DOID:0070384,,OMIM ID:619605 | OMIM ID:182340 +BMGC_DS18597,BMG_DS071367,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99,UMLS ID:C5562018,,,,,developmental and epileptic encephalopathy 99,MONDO:0030473,,,developmental and epileptic encephalopathy 99,DOID:0070385,,OMIM ID:619606 | OMIM ID:182350 +BMGC_DS18598,BMG_DS071368,"HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY",UMLS ID:C5562019,,,,,"heterotaxy, visceral, 11, autosomal, with male infertility",MONDO:0030475,,,,,,OMIM ID:619608 | OMIM ID:605152 +BMGC_DS18599,BMG_DS071369,GALLOWAY-MOWAT SYNDROME 10,UMLS ID:C5562020,,,,,Galloway-Mowat syndrome 10,MONDO:0030476,,,,,,OMIM ID:619609 | OMIM ID:612276 +BMGC_DS18600,BMG_DS071370,INTERSTITIAL LUNG DISEASE 1,UMLS ID:C5562021,,,,,interstitial lung disease 1,MONDO:0030608,,,interstitial lung disease 1,DOID:0060941,,OMIM ID:178630 | OMIM ID:619611 +BMGC_DS18601,BMG_DS071371,RETINITIS PIGMENTOSA 92,UMLS ID:C5562022,,,,,retinitis pigmentosa 92,MONDO:0030619,,,,,,OMIM ID:619614 | OMIM ID:617221 +BMGC_DS18602,BMG_DS071372,"DEAFNESS, AUTOSOMAL RECESSIVE 119",UMLS ID:C5562023,,,,,"hearing loss, autosomal recessive 119",MONDO:0030480,,,,,,OMIM ID:619615 | OMIM ID:619578 +BMGC_DS18603,BMG_DS071373,NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY,UMLS ID:C5562024,,,,,neurodevelopmental disorder with hearing loss and spasticity,MONDO:0859206,,,,,,OMIM ID:619616 | OMIM ID:619578 +BMGC_DS18604,BMG_DS071374,"SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE",UMLS ID:C5562025,,,,,"spastic paraplegia 84, autosomal recessive",MONDO:0030482,,,hereditary spastic paraplegia 84,DOID:0112347,,OMIM ID:600286 | OMIM ID:619621 +BMGC_DS18605,BMG_DS071375,IMMUNODEFICIENCY 88,UMLS ID:C5562026,,,,,immunodeficiency 88,MONDO:0030483,,,,,,OMIM ID:604895 | OMIM ID:619630 +BMGC_DS18606,BMG_DS071376,IMMUNODEFICIENCY 89 AND AUTOIMMUNITY,UMLS ID:C5562027,,,,,immunodeficiency 89 and autoimmunity,MONDO:0030484,,,,,,OMIM ID:619632 | OMIM ID:607209 +BMGC_DS18607,BMG_DS071377,ACROMESOMELIC DYSPLASIA 4,UMLS ID:C5562028,,,,,acromesomelic dysplasia 4,MONDO:0030553,,,acromesomelic dysplasia-4,DOID:0081238,,OMIM ID:619636 | OMIM ID:601591 +BMGC_DS18608,BMG_DS071378,DYSTONIA 32,UMLS ID:C5562029,,,,,dystonia 32,MONDO:0030486,,,dystonia 32,DOID:0060939,,OMIM ID:608549 | OMIM ID:619637 +BMGC_DS18609,BMG_DS071379,"SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE",UMLS ID:C5562030,,,,,"spondylometaphyseal dysplasia, pagnamenta type",MONDO:0030487,,,,,,OMIM ID:601591 | OMIM ID:619638 +BMGC_DS18610,BMG_DS071380,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY,UMLS ID:C5562031,,,,,neurodevelopmental disorder with hypotonia and gross motor and speech delay,MONDO:0859207,,,,,,OMIM ID:603753 | OMIM ID:619639 +BMGC_DS18611,BMG_DS071381,HENGEL-MAROOFIAN-SCHOLS SYNDROME,UMLS ID:C5562032,,,,,Hengel-Maroofian-Schols syndrome,MONDO:0859208,,,Hengel-Maroofian-Schols syndrome,DOID:0070408,,OMIM ID:607470 | OMIM ID:619641 +BMGC_DS18612,BMG_DS071382,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11,UMLS ID:C5562033,,,,,oocyte maturation defect 11,MONDO:0030490,,,,,,OMIM ID:608860 | OMIM ID:619643 +BMGC_DS18613,BMG_DS071383,SPERMATOGENIC FAILURE 59,UMLS ID:C5562034,,,,,spermatogenic failure 59,MONDO:0030492,,,spermatogenic failure 59,DOID:0112357,,OMIM ID:619645 | OMIM ID:617131 +BMGC_DS18614,BMG_DS071384,SPERMATOGENIC FAILURE 60,UMLS ID:C5562035,,,,,spermatogenic failure 60,MONDO:0030493,,,spermatogenic failure 60,DOID:0112355,,OMIM ID:617332 | OMIM ID:619646 +BMGC_DS18615,BMG_DS071385,"DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE",UMLS ID:C5562036,,,,,"dyskinesia with orofacial involvement, autosomal recessive",MONDO:0030625,,,,,,OMIM ID:600293 | OMIM ID:619647 +BMGC_DS18616,BMG_DS071386,ZAKI SYNDROME,UMLS ID:C5562037,,,,,Zaki syndrome,MONDO:0859209,,,Zaki syndrome,DOID:0070473,,OMIM ID:619648 | OMIM ID:611514 +BMGC_DS18617,BMG_DS071387,NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA,UMLS ID:C5562038,,,,,neurodevelopmental disorder with hyperkinetic movements and dyskinesia,MONDO:0859211,,,,,,OMIM ID:600293 | OMIM ID:619651 +BMGC_DS18618,BMG_DS071388,IMMUNODEFICIENCY 92,UMLS ID:C5562039,,,,,immunodeficiency 92,MONDO:0030498,,,,,,OMIM ID:164910 | OMIM ID:619652 +BMGC_DS18619,BMG_DS071389,"NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS",UMLS ID:C5562040,,,,,"neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus",MONDO:0859212,,,,,,OMIM ID:601995 | OMIM ID:619653 +BMGC_DS18620,BMG_DS071390,LOEYS-DIETZ SYNDROME 6,UMLS ID:C5562041,,,,,Loeys-Dietz syndrome 6,MONDO:0030500,,,Loeys-Dietz syndrome 6,DOID:0060964,,OMIM ID:619656 | OMIM ID:601366 +BMGC_DS18621,BMG_DS071391,"CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY",UMLS ID:C5562042,,,,,"congenital heart defects, multiple types, 8, with or without heterotaxy",MONDO:0859213,,,,,,OMIM ID:619657 +BMGC_DS18622,BMG_DS071392,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS",UMLS ID:C5562043,,,,,"cholestasis, progressive familial intrahepatic, 7, with or without hearing loss",MONDO:0030503,,,,,,OMIM ID:619658 | OMIM ID:617431 +BMGC_DS18623,BMG_DS071393,"LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2",UMLS ID:C5562044,,,,,"leukoencephalopathy, hereditary diffuse, with spheroids 2",MONDO:0030634,,,,,,OMIM ID:619661 | OMIM ID:601065 +BMGC_DS18624,BMG_DS071394,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8",UMLS ID:C5562045,,,,,"cholestasis, progressive familial intrahepatic, 8",MONDO:0030505,,,,,,OMIM ID:611278 | OMIM ID:619662 +BMGC_DS18625,BMG_DS071395,OVARIAN DYSGENESIS 9,UMLS ID:C5562046,,,,,ovarian dysgenesis 9,MONDO:0030506,,,ovarian dysgenesis 9,DOID:0061013,,OMIM ID:615384 | OMIM ID:619665 +BMGC_DS18626,BMG_DS071396,SPERMATOGENIC FAILURE 61,UMLS ID:C5562048,,,,,spermatogenic failure 61,MONDO:0030507,,,spermatogenic failure 61,DOID:0112350,,OMIM ID:619672 | OMIM ID:608489 +BMGC_DS18627,BMG_DS071397,SPERMATOGENIC FAILURE 62,UMLS ID:C5562049,,,,,spermatogenic failure 62,MONDO:0030508,,,spermatogenic failure 62,DOID:0112351,,OMIM ID:619673 | OMIM ID:612041 +BMGC_DS18628,BMG_DS071398,MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5562050,,,,,Marbach-Schaaf neurodevelopmental syndrome,MONDO:0859214,,,,,,OMIM ID:176911 | OMIM ID:619680 +BMGC_DS18629,BMG_DS071399,"DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA",UMLS ID:C5562051,,,,,"dystonia, early-onset, and/or spastic paraplegia",MONDO:0859215,,,early-onset dystonia and/or spastic paraplegia,DOID:0070445,,OMIM ID:602736 | OMIM ID:619681 +BMGC_DS18630,BMG_DS071400,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS",UMLS ID:C5562052,,,,,"neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis",MONDO:0859216,,,,,,OMIM ID:619685 | OMIM ID:616465 +BMGC_DS18631,BMG_DS071401,"SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE",UMLS ID:C5562053,,,,,"spastic paraplegia 85, autosomal recessive",MONDO:0030512,,,hereditary spastic paraplegia 85,DOID:0112345,,OMIM ID:619686 | OMIM ID:614649 +BMGC_DS18632,BMG_DS071402,DYSTONIA 33,UMLS ID:C5562054,,,,,dystonia 33,MONDO:0030513,,,dystonia 33,DOID:0060940,,OMIM ID:176871 | OMIM ID:619687 +BMGC_DS18633,BMG_DS071403,SPERMATOGENIC FAILURE 63,UMLS ID:C5562055,,,,,spermatogenic failure 63,MONDO:0030515,,,spermatogenic failure 63,DOID:0112356,,OMIM ID:619655 | OMIM ID:619689 +BMGC_DS18634,BMG_DS071404,BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5562056,,,,,Brunet-Wagner neurodevelopmental syndrome,MONDO:0859217,,,,,,OMIM ID:180203 | OMIM ID:619690 +BMGC_DS18635,BMG_DS071405,"TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE",UMLS ID:C5562057,,,,,"trichothiodystrophy 8, nonphotosensitive",MONDO:0030517,,,nonphotosensitive trichothiodystrophy 8,DOID:0061023,,OMIM ID:619691 | OMIM ID:601065 +BMGC_DS18636,BMG_DS071406,"TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE",UMLS ID:C5562058,,,,,"trichothiodystrophy 9, nonphotosensitive",MONDO:0030518,,,nonphotosensitive trichothiodystrophy 9,DOID:0061024,,OMIM ID:619692 | OMIM ID:156560 +BMGC_DS18637,BMG_DS071407,"AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE",UMLS ID:C5562059,,,,,"agammaglobulinemia 9, autosomal recessive",MONDO:0030519,,,agammaglobulinemia 9,DOID:0081141,,OMIM ID:601416 | OMIM ID:619693 +BMGC_DS18638,BMG_DS071408,DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES,UMLS ID:C5562060,,,,,developmental delay with variable neurologic and brain abnormalities,MONDO:0859218,,,,,,OMIM ID:619490 | OMIM ID:619694 +BMGC_DS18639,BMG_DS071409,RAUCH-STEINDL SYNDROME,UMLS ID:C5562061,,,,,Rauch-Steindl syndrome,MONDO:0859219,,,,,,OMIM ID:602952 | OMIM ID:619695 +BMGC_DS18640,BMG_DS071410,SPERMATOGENIC FAILURE 64,UMLS ID:C5562062,,,,,spermatogenic failure 64,MONDO:0030522,,,spermatogenic failure 64,DOID:0112353,,OMIM ID:609110 | OMIM ID:619696 +BMGC_DS18641,BMG_DS071411,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12,UMLS ID:C5562063,,,,,oocyte maturation defect 12,MONDO:0030523,,,,,,OMIM ID:619697 | OMIM ID:609110 +BMGC_DS18642,BMG_DS071412,"MUCOPOLYSACCHARIDOSIS, TYPE X",UMLS ID:C5562064,,,,,"mucopolysaccharidosis, type 10",MONDO:0030524,,,,,,OMIM ID:610011 | OMIM ID:619698 +BMGC_DS18643,BMG_DS071413,FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5562065,,,,,Ferguson-Bonni neurodevelopmental syndrome,MONDO:0859220,,,,,,OMIM ID:606949 | OMIM ID:619699 +BMGC_DS18644,BMG_DS071414,YOON-BELLEN NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5562066,,,,,Yoon-Bellen neurodevelopmental syndrome,MONDO:0859221,,,Yoon-Bellen neurodevelopmental syndrome,DOID:0070468,,OMIM ID:617513 | OMIM ID:619701 +BMGC_DS18645,BMG_DS071415,SPERMATOGENIC FAILURE 65,UMLS ID:C5562067,,,,,spermatogenic failure 65,MONDO:0030531,,,spermatogenic failure 65,DOID:0112354,,OMIM ID:619712 | OMIM ID:617277 +BMGC_DS18646,BMG_DS071416,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT",UMLS ID:C5562068,,,,,"congenital disorder of glycosylation, type Iw, autosomal dominant",MONDO:0859223,,,,,,OMIM ID:619714 | OMIM ID:601134 +BMGC_DS18647,BMG_DS071417,"MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C5562069,,,,,"microcephaly 28, primary, autosomal recessive",MONDO:0030339,,,,,,OMIM ID:619449 | OMIM ID:619453 +BMGC_DS18648,BMG_DS071418,IMMUNODEFICIENCY 87 AND AUTOIMMUNITY,UMLS ID:C5562070,,,,,immunodeficiency 87 and autoimmunity,MONDO:0030457,,,,,,OMIM ID:610094 | OMIM ID:619573 +BMGC_DS18649,BMG_DS071419,Sd(a) POLYAGGLUTINATION SYNDROME,UMLS ID:C5562071,,,,,,,,,,,,OMIM ID:615018 +BMGC_DS18650,BMG_DS071420,"HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY",UMLS ID:C5562072,,,,,"heterotaxy, visceral, 10, autosomal, with male infertility",MONDO:0030474,,,,,,OMIM ID:619607 | OMIM ID:609804 +BMGC_DS18651,BMG_DS071421,IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION,UMLS ID:C5562073,,,,,immunodeficiency 91 and hyperinflammation,MONDO:0030491,,,,,,OMIM ID:618931 | OMIM ID:619644 +BMGC_DS18652,BMG_DS071422,"LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY",UMLS ID:C5562074,,,,,"leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy",MONDO:0030514,,,hypomyelinating leukodystrophy 23,DOID:0070397,,OMIM ID:619688 | OMIM ID:616136 +BMGC_DS18653,BMG_DS071423,"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1",UMLS ID:C5562075,,,,,"central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease",MONDO:0800026,,,,,,OMIM ID:603851 | OMIM ID:209880 +BMGC_DS18654,BMG_DS071424,CHROMOSOME 16q12 DUPLICATION SYNDROME,UMLS ID:C5562082,,,,,chromosome 16q12 duplication syndrome,MONDO:0859210,,,,,,OMIM ID:619649 +BMGC_DS18655,BMG_DS071444,"ANOSMIA, ISOLATED CONGENITAL, X-LINKED",UMLS ID:C5562112,,,,,"anosmia, isolated congenital, X-linked",MONDO:0100469,,,,,,OMIM ID:301700 +BMGC_DS18656,BMG_DS071446,"CHROMOSOME 1p36 DELETION SYNDROME, PROXIMAL",UMLS ID:C5562114,,,,,"chromosome 1p36 deletion syndrome, proximal",MONDO:0859155,,,,,,OMIM ID:619343 +BMGC_DS18657,BMG_DS071453,mmd1 myopathy,UMLS ID:C5565781,,,,,,,,MeSH ID:C537480,Miyoshi muscular dystrophy,DOID:0070198,, +BMGC_DS18658,BMG_DS071477,Angelman syndrome due to maternal monosomy 15q11q13,UMLS ID:C5566334,Angelman syndrome due to maternal monosomy 15q11q13 (disorder) | Angelman syndrome due to maternal monosomy 15q11q13,SNOMEDCT ID:1162462009,,,Angelman syndrome due to maternal 15q11q13 deletion,MONDO:0020302,,,,,, +BMGC_DS18659,BMG_DS071499,Mayer Rokitansky Küster Hauser syndrome type 1,UMLS ID:C5566555,Mayer Rokitansky Küster Hauser syndrome type 1 | Mayer Rokitansky Küster Hauser syndrome type 1 (disorder) | MRKH (Mayer Rokitansky Küster Hauser) syndrome type 1,SNOMEDCT ID:1162832007,,,Mayer-Rokitansky-Kuster-Hauser syndrome type 1,MONDO:0010173,,,,,,OMIM ID:277000 +BMGC_DS18660,BMG_DS071509,Glycogen storage disease due to muscle beta-enolase deficiency,UMLS ID:C5566614,Glycogen storage disease due to muscle beta-enolase deficiency | Glycogenosis type 13 | Muscle enolase deficiency | Glycogen storage disease due to muscle beta-enolase deficiency (disorder) | Glycogenosis due to muscle beta-enolase deficiency | GSDXIII - glycogen storage disease type XIII,SNOMEDCT ID:1162916008,,,,,,,,,, +BMGC_DS18661,BMG_DS071649,"X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome",UMLS ID:C5567226,"X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome (disorder) | X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome",SNOMEDCT ID:1167372000,,,,,,,,,, +BMGC_DS18662,BMG_DS071650,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,UMLS ID:C5567227,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder),SNOMEDCT ID:1167373005,,,,,,,childhood-onset neurodegeneration with brain atrophy,DOID:0070474,, +BMGC_DS18663,BMG_DS071652,"Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome",UMLS ID:C5567229,"Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) | Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome",SNOMEDCT ID:1169356004,,,early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,MONDO:0044696,,,,,,OMIM ID:617669 +BMGC_DS18664,BMG_DS071661,LRP5-related primary osteoporosis,UMLS ID:C5567241,Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) | Low density lipoprotein receptor-related protein 5 related primary osteoporosis | LRP5-related primary osteoporosis,SNOMEDCT ID:1169364005,,,LRP5-related primary osteoporosis,MONDO:0044675,,,,,, +BMGC_DS18665,BMG_DS071703,MME-related autosomal dominant Charcot Marie Tooth disease type 2,UMLS ID:C5567450,Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | MME-related autosomal dominant Charcot Marie Tooth disease type 2 | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 | MME-related autosomal dominant hereditary motor and sensory neuropathy type 2,SNOMEDCT ID:1172585006,,,MME-related autosomal dominant Charcot Marie Tooth disease type 2,MONDO:0044657,,,,,, +BMGC_DS18666,BMG_DS071704,"Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome",UMLS ID:C5567451,"Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) | Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome",SNOMEDCT ID:1172588008,,,early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,MONDO:0044651,,,,,, +BMGC_DS18667,BMG_DS071705,"Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome",UMLS ID:C5567452,"Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome | Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome (disorder)",SNOMEDCT ID:1172590009,,,kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,MONDO:0044648,,,,,, +BMGC_DS18668,BMG_DS071706,"Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome",UMLS ID:C5567453,"Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome | Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome (disorder)",SNOMEDCT ID:1172591008,,,kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,MONDO:0044647,,,,,, +BMGC_DS18669,BMG_DS071707,"Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome",UMLS ID:C5567454,"Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) | Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome",SNOMEDCT ID:1172593006,,,early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,MONDO:0044646,,,,,,OMIM ID:617193 +BMGC_DS18670,BMG_DS071708,"Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome",UMLS ID:C5567455,"Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome | Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder)",SNOMEDCT ID:1172594000,,,congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,MONDO:0044643,,,,,, +BMGC_DS18671,BMG_DS071709,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,UMLS ID:C5567456,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) | C11ORF73-related autosomal recessive hypomyelinating leukodystrophy | C11ORF73-related autosomal recessive hypomyelinating leucoencephalopathy | C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy | C11ORF73-related autosomal recessive hypomyelinating leucodystrophy | Hypomyelinating leukodystrophy due to HIKESHI deficiency | Hypomyelinating leucodystrophy due to HIKESHI deficiency,SNOMEDCT ID:1172595004,,,c11orf73-related autosomal recessive hypomyelinating leukodystrophy,MONDO:0044642,,,,,, +BMGC_DS18672,BMG_DS071710,Childhood-onset benign chorea with striatal involvement,UMLS ID:C5567463,Childhood-onset benign chorea with striatal involvement | Childhood-onset benign chorea with striatal involvement (disorder),SNOMEDCT ID:1172602000,,,childhood-onset benign chorea with striatal involvement,MONDO:0044332,,,,,, +BMGC_DS18673,BMG_DS071711,Infantile-onset generalized dyskinesia with orofacial involvement,UMLS ID:C5567464,"Infantile-onset generalised dyskinesia with orofacial involvement | Infantile-onset generalized dyskinesia with orofacial involvement | Infantile-onset generalized dyskinesia with orofacial involvement (disorder) | Infantile-onset orofacial, trunk, limbs dyskinesia",SNOMEDCT ID:1172603005,,,infantile-onset generalized dyskinesia with orofacial involvement,MONDO:0044637,,,,,,OMIM ID:616921 +BMGC_DS18674,BMG_DS071712,"Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome",UMLS ID:C5567465,"DIAPH1-related sensorineural deafness, thrombocytopenia syndrome | DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome | Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)",SNOMEDCT ID:1172604004,,,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,MONDO:0044635,,,,,, +BMGC_DS18675,BMG_DS071713,"Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome",UMLS ID:C5567466,"Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder) | Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome | Retinitis pigmentosa, deafness, premature ageing, short stature, facial dysmorphism syndrome",SNOMEDCT ID:1172605003,,,,,,,,,, +BMGC_DS18676,BMG_DS071715,RERE-related neurodevelopmental syndrome,UMLS ID:C5567477,Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome | RERE-related neurodevelopmental syndrome | Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome (disorder),SNOMEDCT ID:1172624000,,,,,,,,,, +BMGC_DS18677,BMG_DS071716,DDX41-related hematologic malignancy predisposition syndrome,UMLS ID:C5567478,DDX41-related hematologic malignancy predisposition syndrome | DEAD-box helicase 41-related hematologic malignancy predisposition syndrome | DDX41-related haematologic malignancy predisposition syndrome | DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder) | DEAD-box helicase 41-related haematologic malignancy predisposition syndrome,SNOMEDCT ID:1172625004,,,,,,,,,, +BMGC_DS18678,BMG_DS071717,"Early-onset epilepsy, intellectual disability, brain anomalies syndrome",UMLS ID:C5567479,"Early-onset epilepsy, intellectual disability, brain anomalies syndrome | Congenital disorder of glycosylation due to PIGG (phosphatidylinositol glycan anchor biosynthesis class G) deficiency | PIGG-CDG - congenital disorder of glycosylation due to PIGG deficiency | Congenital disorder of glycosylation due to phosphatidylinositol glycan anchor biosynthesis class G deficiency | Early-onset epilepsy, intellectual disability, brain anomalies syndrome (disorder)",SNOMEDCT ID:1172627007,,,,,,,,,, +BMGC_DS18679,BMG_DS071718,TBCK-related intellectual disability syndrome,UMLS ID:C5567480,TBCK-related intellectual disability syndrome | TBC1 domain containing kinase-related intellectual disability syndrome | TBC1 domain containing kinase-related intellectual disability syndrome (disorder),SNOMEDCT ID:1172628002,,,"hypotonia, infantile, with psychomotor retardation and characteristic facies 3",MONDO:0014823,,,infantile hypotonia with psychomotor retardation and characteristic facies-3,DOID:0060935,,OMIM ID:616900 +BMGC_DS18680,BMG_DS071719,"Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome",UMLS ID:C5567481,"Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder)",SNOMEDCT ID:1172629005,,,,,,,,,, +BMGC_DS18681,BMG_DS071720,"Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome",UMLS ID:C5567482,"Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome | Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome (disorder)",SNOMEDCT ID:1172630000,,,obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,MONDO:0024252,,,,,, +BMGC_DS18682,BMG_DS071721,Autosomal recessive spastic paraplegia type 76,UMLS ID:C5567483,Autosomal recessive spastic paraplegia type 76 (disorder) | Autosomal recessive spastic paraplegia type 76,SNOMEDCT ID:1172631001,,,autosomal recessive spastic paraplegia type 76,MONDO:0014827,,,,,,OMIM ID:616907 +BMGC_DS18683,BMG_DS071722,SIX2-related frontonasal dysplasia,UMLS ID:C5567484,SIX homeobox 2-related frontonasal dysplasia (disorder) | SIX2-related frontonasal dysplasia | SIX homeobox 2-related frontonasal dysplasia,SNOMEDCT ID:1172632008,,,six2-related frontonasal dysplasia,MONDO:0044628,,,,,, +BMGC_DS18684,BMG_DS071723,Autosomal dominant Charcot-Marie-Tooth disease type 2W,UMLS ID:C5567486,Autosomal dominant Charcot-Marie-Tooth disease type 2W | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2W (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS (histidyl-tRNA synthetase 1) mutation,SNOMEDCT ID:1172634009,,,autosomal dominant Charcot-Marie-Tooth disease type 2W,MONDO:0014711,,,,,,OMIM ID:616625 +BMGC_DS18685,BMG_DS071724,"Split-foot malformation, mesoaxial polydactyly syndrome",UMLS ID:C5567487,"SFMMP (split-foot malformation, mesoaxial polydactyly) syndrome | Split-foot malformation, mesoaxial polydactyly syndrome | Split-foot malformation, mesoaxial polydactyly syndrome (disorder) | Split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome",SNOMEDCT ID:1172635005,,,split-foot malformation-mesoaxial polydactyly syndrome,MONDO:0014816,,,,,,OMIM ID:616890 +BMGC_DS18686,BMG_DS071726,,UMLS ID:C5567489,,,,,female infertility due to oocyte meiotic arrest,MONDO:0044626,,,,,, +BMGC_DS18687,BMG_DS071730,"Microcephaly, congenital cataract, psoriasiform dermatitis syndrome",UMLS ID:C5567510,"Sterol-C4-methyl oxidase deficiency | SMO (sterol-C4-methyl oxidase) deficiency | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)",SNOMEDCT ID:1172683008,,,microcephaly-congenital cataract-psoriasiform dermatitis syndrome,MONDO:0014793,,,,,,OMIM ID:616834 +BMGC_DS18688,BMG_DS071731,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,UMLS ID:C5567515,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation,SNOMEDCT ID:1172684002,,,autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation,MONDO:0044625,,,,,, +BMGC_DS18689,BMG_DS071732,Prenatal-onset spinal muscular atrophy with congenital bone fractures,UMLS ID:C5567518,Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Prenatal-onset spinal muscular atrophy with congenital bone fractures,SNOMEDCT ID:1172689007,,,prenatal-onset spinal muscular atrophy with congenital bone fractures,MONDO:0000209,,,,,, +BMGC_DS18690,BMG_DS071734,"X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome",UMLS ID:C5567520,"X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome | X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder)",SNOMEDCT ID:1172692006,,,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,MONDO:0044617,,,,,, +BMGC_DS18691,BMG_DS071735,Adenylosuccinate synthetase-like 1-related distal myopathy,UMLS ID:C5567521,ADSSL1-related distal myopathy | Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) | Adenylosuccinate synthetase-like 1-related distal myopathy,SNOMEDCT ID:1172694007,,,"myopathy, distal, 5",MONDO:0014877,,,,,,OMIM ID:617030 +BMGC_DS18692,BMG_DS071736,"Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome",UMLS ID:C5567522,"Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) | Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome",SNOMEDCT ID:1172696009,,,global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,MONDO:0018822,,,,,, +BMGC_DS18693,BMG_DS071737,"X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability",UMLS ID:C5567523,"X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability | X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females | X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)",SNOMEDCT ID:1172697000,,,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,MONDO:0018821,,,,,, +BMGC_DS18694,BMG_DS071738,"Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome",UMLS ID:C5567524,"Transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome | Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) | TANGO2-related metabolic encephalopathy, arrhythmia syndrome | Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome | Transport and golgi organisation 2 homolog-related metabolic encephalopathy, arrhythmia syndrome",SNOMEDCT ID:1172698005,,,recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,MONDO:0018820,,,,,,OMIM ID:616878 +BMGC_DS18695,BMG_DS071741,"Lethal hydranencephaly, diaphragmatic hernia syndrome",UMLS ID:C5567527,"Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) | Lethal hydranencephaly, diaphragmatic hernia syndrome",SNOMEDCT ID:1172705006,,,lethal hydranencephaly-diaphragmatic hernia syndrome,MONDO:0018810,,,,,, +BMGC_DS18696,BMG_DS071744,"Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome",UMLS ID:C5567603,"Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder)",SNOMEDCT ID:1172839002,,,,,,,,,, +BMGC_DS18697,BMG_DS071745,Combined oxidative phosphorylation defect type 30,UMLS ID:C5567605,Combined oxidative phosphorylation defect type 30 | Combined oxidative phosphorylation defect type 30 (disorder) | COXPD30 - combined oxidative phosphorylation defect type 30,SNOMEDCT ID:1172841001,,,combined oxidative phosphorylation defect type 30,MONDO:0014856,,,,,,OMIM ID:616974 +BMGC_DS18698,BMG_DS071746,Combined oxidative phosphorylation defect type 29,UMLS ID:C5567607,Combined oxidative phosphorylation defect type 29 | COXPD29 - combined oxidative phosphorylation defect type 29 | Combined oxidative phosphorylation defect type 29 (disorder),SNOMEDCT ID:1172843003,,,combined oxidative phosphorylation deficiency 29,MONDO:0014781,,,,,,OMIM ID:616811 +BMGC_DS18699,BMG_DS071747,Combined oxidative phosphorylation defect type 27,UMLS ID:C5567608,Combined oxidative phosphorylation defect type 27 | Combined oxidative phosphorylation defect type 27 (disorder) | COXPD27 - combined oxidative phosphorylation defect type 27,SNOMEDCT ID:1172844009,,,combined oxidative phosphorylation defect type 27,MONDO:0014728,,,,,,OMIM ID:616672 +BMGC_DS18700,BMG_DS071748,"Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome",UMLS ID:C5567644,"Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome | Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder)",SNOMEDCT ID:1172889005,,,,,,,,,, +BMGC_DS18701,BMG_DS071749,Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation,UMLS ID:C5567647,Autosomal recessive primary immunodeficiency due to RORC mutation | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation | Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation | Autosomal recessive MSMD (mendelian susceptibility to mycobacterial disease) due to complete RORgamma receptor mutation,SNOMEDCT ID:1172892009,,,autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,MONDO:0014710,,,,,,OMIM ID:616622 +BMGC_DS18702,BMG_DS071750,"Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome",UMLS ID:C5567650,"Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome | Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)",SNOMEDCT ID:1172900005,,,progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,MONDO:0014714,,,,,,OMIM ID:616632 +BMGC_DS18703,BMG_DS071751,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,UMLS ID:C5567651,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) | PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction | PLA2G4A-related platelet dysfunction | Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency | Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,SNOMEDCT ID:1172901009,,,cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,MONDO:0018794,,,,,,OMIM ID:618372 +BMGC_DS18704,BMG_DS071758,Combined oxidative phosphorylation defect type 26,UMLS ID:C5567741,Combined oxidative phosphorylation defect type 26 | Combined oxidative phosphorylation defect type 26 (disorder) | COXPD26 - combined oxidative phosphorylation defect type 26,SNOMEDCT ID:1173034002,,,combined oxidative phosphorylation defect type 26,MONDO:0014684,,,,,,OMIM ID:616539 +BMGC_DS18705,BMG_DS071759,Combined oxidative phosphorylation defect type 25,UMLS ID:C5567742,Combined oxidative phosphorylation defect type 25 (disorder) | Combined oxidative phosphorylation defect type 25 | COXPD25 - combined oxidative phosphorylation defect type 25,SNOMEDCT ID:1173035001,,,combined oxidative phosphorylation defect type 25,MONDO:0014636,,,,,,OMIM ID:616430 +BMGC_DS18706,BMG_DS071760,Combined oxidative phosphorylation defect type 23,UMLS ID:C5567743,Combined oxidative phosphorylation defect type 23 | Combined oxidative phosphorylation defect type 23 (disorder) | COXPD23 - combined oxidative phosphorylation defect type 23,SNOMEDCT ID:1173036000,,,combined oxidative phosphorylation defect type 23,MONDO:0014525,,,,,,OMIM ID:616198 +BMGC_DS18707,BMG_DS071762,"Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome",UMLS ID:C5567787,"Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder)",SNOMEDCT ID:1173998003,,,,,,,neurodevelopmental disorder with spastic paraplegia and microcephaly,DOID:0070542,, +BMGC_DS18708,BMG_DS071763,IL21-related infantile inflammatory bowel disease,UMLS ID:C5567788,Interleukin 21 related infantile inflammatory bowel disease (disorder) | IL21-related infantile inflammatory bowel disease | Interleukin 21 related infantile inflammatory bowel disease,SNOMEDCT ID:1173999006,,,IL21-related infantile inflammatory bowel disease,MONDO:0014338,,,,,,OMIM ID:615767 +BMGC_DS18709,BMG_DS071764,Congenital generalized hypercontractile muscle stiffness syndrome,UMLS ID:C5567789,Congenital generalized hypercontractile muscle stiffness syndrome | Congenital generalised hypercontractile muscle stiffness syndrome | Congenital generalized hypercontractile muscle stiffness syndrome (disorder),SNOMEDCT ID:1174000008,,,congenital generalized hypercontractile muscle stiffness syndrome,MONDO:0018780,,,,,, +BMGC_DS18710,BMG_DS071770,Methicillin resistant Staphylococcus aureus skin infection,UMLS ID:C5567802,Skin infection caused by Methicillin resistant Staphylococcus aureus (disorder) | Skin infection caused by Methicillin resistant Staphylococcus aureus | Methicillin resistant Staphylococcus aureus skin infection | MRSA (Methicillin resistant Staphylococcus aureus) skin infection,SNOMEDCT ID:1176997000,,,,,,,,,, +BMGC_DS18711,BMG_DS071810,PMP2-related Charcot-Marie-Tooth disease type 1,UMLS ID:C5567891,PMP2-related Charcot-Marie-Tooth disease type 1 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 | PMP2-related Charcot-Marie-Tooth neuropathy type 1 | PMP2-related hereditary motor and sensory neuropathy type 1,SNOMEDCT ID:1177165005,,,,,,,,,, +BMGC_DS18712,BMG_DS071812,Autosomal recessive spastic paraplegia type 78,UMLS ID:C5567893,Autosomal recessive spastic paraplegia type 78 (disorder) | Autosomal recessive spastic paraplegia type 78 | SPG78 - autosomal recessive spastic paraplegia type 78,SNOMEDCT ID:1177168007,,,autosomal recessive spastic paraplegia type 78,MONDO:0014975,,,,,,OMIM ID:617225 +BMGC_DS18713,BMG_DS071816,"Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome",UMLS ID:C5567897,"Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | MYSM1 deficiency | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome | MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency",SNOMEDCT ID:1177173001,,,congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,MONDO:0033683,,,,,, +BMGC_DS18714,BMG_DS071818,"Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome",UMLS ID:C5567899,"Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome | EXTL3-related neuro-immuno-skeletal dysplasia syndrome | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency",SNOMEDCT ID:1177175008,,,skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,MONDO:0033682,,,,,, +BMGC_DS18715,BMG_DS071819,Hyperphenylalaninemia due to DNAJC12 deficiency,UMLS ID:C5567900,Hyperphenylalanineaemia due to DNAJC12 deficiency | Hyperphenylalaninemia due to DNAJC12 deficiency | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency | Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder) | Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency | Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia | Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia,SNOMEDCT ID:1177177000,,,,,,,,,, +BMGC_DS18716,BMG_DS071820,"Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome",UMLS ID:C5567901,"Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome",SNOMEDCT ID:1177178005,,,intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,MONDO:0034991,,,,,, +BMGC_DS18717,BMG_DS071822,Oral-facial-digital syndrome with short stature and brachymesophalangia,UMLS ID:C5567903,OFD18 - oral-facial-digital syndrome type 18 | Orofaciodigital syndrome type 18 | Oral-facial-digital syndrome with short stature and brachymesophalangia | Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder),SNOMEDCT ID:1177179002,,,orofaciodigital syndrome 18,MONDO:0054770,,,,,,OMIM ID:617927 +BMGC_DS18718,BMG_DS071851,"Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract",UMLS ID:C5568106,"Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder)",SNOMEDCT ID:1179282009,,,,,,,,,, +BMGC_DS18719,BMG_DS071852,"Metopic ridging, ptosis, facial dysmorphism syndrome",UMLS ID:C5568107,"Metopic ridging, ptosis, facial dysmorphism syndrome | Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)",SNOMEDCT ID:1179283004,,, | Weiss-Kruszka syndrome,MONDO:0032836,,,,,,OMIM ID:618619 +BMGC_DS18720,BMG_DS071853,Combined immunodeficiency due to moesin deficiency,UMLS ID:C5568123,X-linked moesin-associated immunodeficiency | Combined immunodeficiency due to moesin deficiency (disorder) | MSN (moesin) related combined immunodeficiency | Combined immunodeficiency due to moesin deficiency,SNOMEDCT ID:1179285006,,,combined immunodeficiency due to moesin deficiency,MONDO:0010514,,,,,,OMIM ID:300988 +BMGC_DS18721,BMG_DS071854,Combined immunodeficiency due to GINS1 deficiency,UMLS ID:C5568132,"Combined immunodeficiency due to GINS1 (GINS complex subunit 1) deficiency | Combined immunodeficiency due to GINS complex subunit 1 deficiency | Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) | Combined immunodeficiency due to GINS1 deficiency | Combined immunodeficiency with intrauterine growth retardation, NK (natural killer) cell deficiency, neutropenia",SNOMEDCT ID:1179286007,,,combined immunodeficiency due to GINS1 deficiency,MONDO:0044725,,,,,,OMIM ID:617827 +BMGC_DS18722,BMG_DS071855,Combined immunodeficiency due to TFRC deficiency,UMLS ID:C5568133,Combined immunodeficiency due to transferrin receptor deficiency (disorder) | Combined immunodeficiency due to transferrin receptor deficiency | TFRC (transferrin receptor) related combined immunodeficiency | Combined immunodeficiency due to TFRC deficiency,SNOMEDCT ID:1179288008,,,TFRC-related combined immunodeficiency,MONDO:0014760,,,immunodeficiency 46,DOID:0111948,,OMIM ID:616740 +BMGC_DS18723,BMG_DS071856,Erythrokeratodermia cardiomyopathy syndrome,UMLS ID:C5568136,Erythrokeratodermia cardiomyopathy syndrome | Erythrokeratodermia cardiomyopathy syndrome (disorder) | EKC (erythrokeratodermia cardiomyopathy) syndrome,SNOMEDCT ID:1179293006,,,,,,,,,, +BMGC_DS18724,BMG_DS071857,"Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome",UMLS ID:C5568137,"Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome | Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome (disorder)",SNOMEDCT ID:1179294000,,,autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,MONDO:0018773,,,,,, +BMGC_DS18725,BMG_DS071858,BVES-related limb girdle muscular dystrophy,UMLS ID:C5568138,"Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome | Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Limb girdle muscular dystrophy 2X | BVES-related limb girdle muscular dystrophy | Blood vessel epicardial substance related limb girdle muscular dystrophy | BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy",SNOMEDCT ID:1179295004,,,autosomal recessive limb-girdle muscular dystrophy type 2X,MONDO:0014782,,,,,,OMIM ID:616812 +BMGC_DS18726,BMG_DS071859,Familial patent arterial duct,UMLS ID:C5568140,Familial patent arterial duct | Familial patent arterial duct (disorder) | Familial PDA (patent ductus arteriosus),SNOMEDCT ID:1179298002,,,,,,,,,, +BMGC_DS18727,BMG_DS071860,NEK9-related lethal skeletal dysplasia,UMLS ID:C5568141,"NEK9-related lethal skeletal dysplasia | NIMA related kinase 9 lethal skeletal dysplasia (disorder) | NIMA related kinase 9 lethal skeletal dysplasia | Lethal skeletal dysplasia, foetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome | Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome",SNOMEDCT ID:1179299005,,,NEK9-related lethal skeletal dysplasia,MONDO:0014870,,,,,,OMIM ID:617022 +BMGC_DS18728,BMG_DS071861,,UMLS ID:C5568143,,,,,DYRK1A-related intellectual disability syndrome,MONDO:0013578,,,,,,OMIM ID:614104 +BMGC_DS18729,BMG_DS071903,"Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome",UMLS ID:C5568533,"Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) | Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome",SNOMEDCT ID:1186654001,,,immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,MONDO:0033968,,,,,, +BMGC_DS18730,BMG_DS071905,Combined immunodeficiency due to CARMIL2 deficiency,UMLS ID:C5568557,Combined immunodeficiency due to CARMIL2 deficiency | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder) | Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency | Combined immunodeficiency due to RLTPR deficiency,SNOMEDCT ID:1186712009,,,,,,,,,, +BMGC_DS18731,BMG_DS071906,"Growth delay, intellectual disability, hepatopathy syndrome",UMLS ID:C5568558,"Growth delay, intellectual disability, hepatopathy syndrome | Growth delay, intellectual disability, hepatopathy syndrome (disorder)",SNOMEDCT ID:1186713004,,,,,,,,,, +BMGC_DS18732,BMG_DS071907,Combined immunodeficiency due to CD70 deficiency,UMLS ID:C5568559,Combined immunodeficiency due to CD70 deficiency (disorder) | Combined immunodeficiency due to CD70 deficiency,SNOMEDCT ID:1186715006,,,severe combined immunodeficiency due to CD70 deficiency,MONDO:0034054,,,,,,OMIM ID:618261 +BMGC_DS18733,BMG_DS071908,"Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome",UMLS ID:C5568562,"Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome | Coenzyme Q4-related neonatal encephalomyopathy | COQ4-related neonatal encephalomyopathy",SNOMEDCT ID:1186718008,,,neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,MONDO:0014562,,,,,,OMIM ID:616276 +BMGC_DS18734,BMG_DS071909,"CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome",UMLS ID:C5568564,"CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) | CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome | CAIN (CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome | CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome",SNOMEDCT ID:1186720006,,,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,MONDO:0035437,,,,,, +BMGC_DS18735,BMG_DS071912,HTRA1-related autosomal dominant cerebral small vessel disease,UMLS ID:C5568568,HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) | HTRA1-related autosomal dominant cerebral small vessel disease | HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease | HTRA1-related autosomal dominant cerebral angiopathy,SNOMEDCT ID:1186724002,,,HTRA1-related autosomal dominant cerebral small vessel disease,MONDO:0018832,,,,,, +BMGC_DS18736,BMG_DS071916,"Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome",UMLS ID:C5568572,"Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome",SNOMEDCT ID:1186729007,,,intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,MONDO:0034989,,,,,, +BMGC_DS18737,BMG_DS071917,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,UMLS ID:C5568576,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,SNOMEDCT ID:1186734006,,,autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction,MONDO:0044737,,,,,, +BMGC_DS18738,BMG_DS071934,Atypical pantothenate kinase associated neurodegeneration,UMLS ID:C5568621,Atypical pantothenate kinase associated neurodegeneration (disorder) | Atypical pantothenate kinase associated neurodegeneration,SNOMEDCT ID:1186856001,,,atypical pantothenate kinase-associated neurodegeneration,MONDO:0016305,,,,,, +BMGC_DS18739,BMG_DS071992,,UMLS ID:C5568766,,,,,complex neurodevelopmental disorder,MONDO:0100038,,,,,, +BMGC_DS18740,BMG_DS071994,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,UMLS ID:C5568768,"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency | Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) | Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 deficiency | Primary adrenal insufficiency, steroid-resistant nephrotic syndrome due to SGPL1 (sphingosine-1-phosphate lyase 1) deficiency",SNOMEDCT ID:1187040004,,,,,,,,,, +BMGC_DS18741,BMG_DS071995,"STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome",UMLS ID:C5568769,"Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome | STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome (disorder)",SNOMEDCT ID:1187041000,,,,,,,,,, +BMGC_DS18742,BMG_DS071996,"Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome",UMLS ID:C5568770,"Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder)",SNOMEDCT ID:1187042007,,,,,,,,,, +BMGC_DS18743,BMG_DS071997,"Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome",UMLS ID:C5568771,"Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) | Cerebrorenal syndrome Perez type | Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome",SNOMEDCT ID:1187043002,,,,,,,,,, +BMGC_DS18744,BMG_DS072003,Mucopolysaccharidosis-like plus disease,UMLS ID:C5568800,Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder | Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder | Mucopolysaccharidosis-like plus disease | Mucopolysaccharidosis-like plus disease (disorder),SNOMEDCT ID:1187113001,,,,,,,,,, +BMGC_DS18745,BMG_DS072004,"Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome",UMLS ID:C5568801,"Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder) | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome",SNOMEDCT ID:1187114007,,,,,,,,,, +BMGC_DS18746,BMG_DS072005,"Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome",UMLS ID:C5568802,"Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) | Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome",SNOMEDCT ID:1187115008,,,autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,MONDO:0018777,,,,,, +BMGC_DS18747,BMG_DS072017,Isolated generalized anhidrosis with normal sweat glands,UMLS ID:C5568836,Isolated generalized anhidrosis with normal sweat glands | Isolated generalised anhidrosis with normal sweat glands | Isolated generalized anhidrosis with normal sweat glands (disorder),SNOMEDCT ID:1187178004,,,isolated anhidrosis with normal sweat glands,MONDO:0007118,,,,,,OMIM ID:106190 +BMGC_DS18748,BMG_DS072018,Autosomal recessive spastic paraplegia type 74,UMLS ID:C5568837,Autosomal recessive spastic paraplegia type 74 | Autosomal recessive spastic paraplegia type 74 (disorder),SNOMEDCT ID:1187191003,,,hereditary spastic paraplegia 74,MONDO:0014644,,,,,,OMIM ID:616451 +BMGC_DS18749,BMG_DS072019,Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene,UMLS ID:C5568838,Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene | Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) | Chronic enteropathy associated with SLCO2A1 gene,SNOMEDCT ID:1187194006,,,chronic enteropathy associated with SLCO2A1 gene,MONDO:0018766,,,,,, +BMGC_DS18750,BMG_DS072021,"Intellectual disability, epilepsy, extrapyramidal syndrome",UMLS ID:C5568848,"Intellectual disability, epilepsy, extrapyramidal syndrome | Intellectual disability, epilepsy, extrapyramidal syndrome (disorder)",SNOMEDCT ID:1187210007,,,,,,,,,, +BMGC_DS18751,BMG_DS072022,"Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome",UMLS ID:C5568849,"Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) | Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome",SNOMEDCT ID:1187212004,,,,,,,,,, +BMGC_DS18752,BMG_DS072023,,UMLS ID:C5568850,,,,,tubulinopathy-associated dysgyria,MONDO:0018763,,,,,, +BMGC_DS18753,BMG_DS072025,Autosomal dominant thrombocytopenia with platelet secretion defect,UMLS ID:C5568864,Autosomal dominant thrombocytopenia with platelet secretion defect | Autosomal dominant thrombocytopenia with platelet secretion defect (disorder),SNOMEDCT ID:1187252002,,,,,,,,,, +BMGC_DS18754,BMG_DS072027,"Short stature, brachydactyly, obesity, global developmental delay syndrome",UMLS ID:C5568868,"Short stature, brachydactyly, obesity, global developmental delay syndrome | Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder) | SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures",SNOMEDCT ID:1187277001,,,,,,,,,, +BMGC_DS18755,BMG_DS072028,"Spastic paraplegia, severe developmental delay, epilepsy syndrome",UMLS ID:C5568869,"SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome | Spastic paraplegia, severe developmental delay, epilepsy syndrome | Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder)",SNOMEDCT ID:1187278006,,,,,,,,,, +BMGC_DS18756,BMG_DS072029,"GNB5-related intellectual disability, cardiac arrhythmia syndrome",UMLS ID:C5568877,"GNB5-related intellectual disability, cardiac arrhythmia syndrome | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder)",SNOMEDCT ID:1186711002,,,gnb5-related intellectual disability-cardiac arrhythmia syndrome,MONDO:0014953,,,,,,OMIM ID:617173 +BMGC_DS18757,BMG_DS072030,VPS11-related autosomal recessive hypomyelinating leukodystrophy,UMLS ID:C5568878,VPS11-related autosomal recessive hypomyelinating leukodystrophy | VPS11-related autosomal recessive hypomyelinating leucodystrophy | VPS11-related autosomal recessive hypomyelinating leukoencephalopathy | VPS11-related autosomal recessive hypomyelinating leucoencephalopathy | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy (disorder) | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leucodystrophy | VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy,SNOMEDCT ID:1187249005,,,,,,,,,, +BMGC_DS18758,BMG_DS072031,"Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome",UMLS ID:C5568882,"Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder)",SNOMEDCT ID:1187303004,,,progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,MONDO:0014748,,,,,,OMIM ID:616723 +BMGC_DS18759,BMG_DS072032,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,UMLS ID:C5568976,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (disorder) | Glycogenosis due to phosphoglycerate kinase 1 deficiency,SNOMEDCT ID:1187462006,,,,,,,,,, +BMGC_DS18760,BMG_DS072033,Autosomal dominant spastic paraplegia type 9A,UMLS ID:C5568978,"Cataracts, motor neuropathy, short stature, skeletal anomalies syndrome | Autosomal dominant spastic paraplegia type 9A | Autosomal dominant spastic paraplegia type 9A (disorder) | Spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome | Spastic paraparesis, amyotrophy, cataracts, gastro-oesophageal reflux syndrome",SNOMEDCT ID:1187465008,,,hereditary spastic paraplegia 9A,MONDO:0011006,,,,,,OMIM ID:601162 +BMGC_DS18761,BMG_DS072034,Autosomal dominant spastic paraplegia type 9B,UMLS ID:C5568979,Autosomal dominant spastic paraplegia type 9B | Autosomal dominant spastic paraplegia type 9B (disorder),SNOMEDCT ID:1187466009,,,autosomal dominant complex spastic paraplegia type 9B,MONDO:0018644,,,,,, +BMGC_DS18762,BMG_DS072035,Autosomal recessive spastic paraplegia type 9B,UMLS ID:C5568980,Autosomal recessive spastic paraplegia type 9B | Autosomal recessive spastic paraplegia type 9B (disorder),SNOMEDCT ID:1187467000,,,autosomal recessive complex spastic paraplegia type 9B,MONDO:0014702,,,,,,OMIM ID:616586 +BMGC_DS18763,BMG_DS072036,Autosomal dominant spastic paraplegia type 73,UMLS ID:C5568981,Autosomal dominant spastic paraplegia type 73 | Autosomal dominant spastic paraplegia type 73 (disorder),SNOMEDCT ID:1187468005,,,hereditary spastic paraplegia 73,MONDO:0014568,,,,,,OMIM ID:616282 +BMGC_DS18764,BMG_DS072037,Autosomal recessive spastic paraplegia type 77,UMLS ID:C5569007,Autosomal recessive spastic paraplegia type 77 | Autosomal recessive spastic paraplegia type 77 (disorder),SNOMEDCT ID:1187506008,,,hereditary spastic paraplegia 77,MONDO:0014882,,,,,,OMIM ID:617046 +BMGC_DS18765,BMG_DS072053,Autosomal recessive Charcot-Marie-Tooth disease type 2X,UMLS ID:C5569024,"Autosomal recessive Charcot-Marie-Tooth disease type 2X | Autosomal recessive Charcot-Marie-Tooth disease type 2X (disorder) | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 (SPG11 vesicle trafficking associated, spatacsin) mutation | Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation",SNOMEDCT ID:1187563003,,,Charcot-Marie-Tooth disease axonal type 2X,MONDO:0014726,,,,,,OMIM ID:616668 +BMGC_DS18766,BMG_DS072054,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,UMLS ID:C5569025,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 (MORC family CW-type zinc finger 2) mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder),SNOMEDCT ID:1187564009,,,Charcot-Marie-Tooth disease axonal type 2Z,MONDO:0014736,,,,,,OMIM ID:616688 +BMGC_DS18767,BMG_DS072055,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,UMLS ID:C5569026,Autosomal dominant Charcot-Marie-Tooth disease type 2Y | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2Y (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP (valosin containing protein) mutation,SNOMEDCT ID:1187565005,,,Charcot-Marie-Tooth disease type 2Y,MONDO:0014735,,,,,,OMIM ID:616687 +BMGC_DS18768,BMG_DS072056,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,UMLS ID:C5569027,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) | Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,SNOMEDCT ID:1187567002,,,Charcot-Marie-Tooth disease recessive intermediate D,MONDO:0014467,,,,,,OMIM ID:616039 +BMGC_DS18769,BMG_DS072057,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,UMLS ID:C5569028,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation,SNOMEDCT ID:1187566006,,,autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,MONDO:0018567,,,,,, +BMGC_DS18770,BMG_DS072058,Severe autosomal recessive macrothrombocytopenia,UMLS ID:C5569048,Severe autosomal recessive macrothrombocytopenia (disorder) | Severe autosomal recessive macrothrombocytopenia,SNOMEDCT ID:1187614006,,,,,,,,,, +BMGC_DS18771,BMG_DS072059,Autosomal dominant Charcot-Marie-Tooth disease type 2V,UMLS ID:C5569050,Autosomal dominant Charcot-Marie-Tooth disease type 2V (disorder) | Autosomal dominant Charcot-Marie-Tooth disease type 2V | Hereditary adult onset painful axonal polyneuropathy | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU (N-acetyl-alpha-glucosaminidase) mutation,SNOMEDCT ID:1187618009,,,Charcot-Marie-Tooth disease axonal type 2V,MONDO:0014665,,,,,,OMIM ID:616491 +BMGC_DS18772,BMG_DS072060,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,UMLS ID:C5569051,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,SNOMEDCT ID:1187619001,,,autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect,MONDO:0033850,,,,,, +BMGC_DS18773,BMG_DS072061,DNAJB2-related Charcot-Marie-Tooth disease type 2,UMLS ID:C5569053,DNAJB2-related Charcot-Marie-Tooth disease type 2 | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2,SNOMEDCT ID:1187621006,,,,,,,,,, +BMGC_DS18774,BMG_DS072085,Combined oxidative phosphorylation defect type 28,UMLS ID:C5569081,COXPD28 - combined oxidative phosphorylation defect type 28 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect | Combined oxidative phosphorylation defect type 28 | Combined oxidative phosphorylation defect type 28 (disorder),SNOMEDCT ID:1187640000,,,combined oxidative phosphorylation deficiency 28,MONDO:0014775,,,,,,OMIM ID:616794 +BMGC_DS18775,BMG_DS072087,"Macrocephaly, intellectual disability, left ventricular non compaction syndrome",UMLS ID:C5569083,"Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) | Macrocephaly, intellectual disability, left ventricular non compaction syndrome",SNOMEDCT ID:1187642008,,,,,,,,,, +BMGC_DS18776,BMG_DS072088,"Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome",UMLS ID:C5569084,"Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Autosomal recessive spinocerebellar ataxia type 21 | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome",SNOMEDCT ID:1187643003,,,acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,MONDO:0014744,,,,,,OMIM ID:616719 +BMGC_DS18777,BMG_DS072160,Heterotropia,UMLS ID:C5574650,Heterotropia | Heterotropia (disorder),SNOMEDCT ID:128602000,,,,,Strabismus,MeSH ID:D013285,,,, +BMGC_DS18778,BMG_DS072165,Ventricular tachyarrhythmia,UMLS ID:C5574657,Ventricular tachyarrhythmia | Ventricular tachyarrhythmia (disorder) | Ventricular tachycardia | Ventricular tachycardia (disorder) | VT - ventricular tachycardia,SNOMEDCT ID:6624005 | SNOMEDCT ID:25569003,,,,,,,,,, +BMGC_DS18779,BMG_DS072166,,UMLS ID:C5574658,,,,,atelosteogenesis,MONDO:0000389,,,,,, +BMGC_DS18780,BMG_DS072167,Dihydrolipoamide dehydrogenase deficiency (disorder),UMLS ID:C5574660,"Dihydrolipoamide dehydrogenase deficiency | Congenital infantile lactic acidosis due to LAD deficiency | Maple syrup urine disease with lactic acidosis | Maple syrup urine disease, type III | Deficiency of diaphorase | Cytochrome-b reductase deficiency | Deficiency of dihydrolipoamide dehydrogenase | Lactic acidosis due to LAD deficiency | DLD - Dihydrolipoamide dehydrogenase deficiency | Deficiency of lipoamide reductase (NADH) | Diaphorase deficiency | Dihydrolipoyl dehydrogenase deficiency | Lipoamide dehydrogenase deficiency | Dihydrolipoamide dehydrogenase deficiency (disorder)",SNOMEDCT ID:29914000,,,pyruvate dehydrogenase E3 deficiency,MONDO:0009529,,,,,,OMIM ID:246900 +BMGC_DS18781,BMG_DS072169,"Epileptic Encephalopathy, Early Infantile, 3",UMLS ID:C5574665,,,,,"developmental and epileptic encephalopathy, 3",MONDO:0012245,,MeSH ID:C562695,,,,OMIM ID:609304 +BMGC_DS18782,BMG_DS072171,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia",UMLS ID:C5574667,,,,,"anemia, congenital dyserythropoietic, type 1a",MONDO:0009135,,,congenital dyserythropoietic anemia type Ia,DOID:0111398,,OMIM ID:224120 | OMIM ID:607465 +BMGC_DS18783,BMG_DS072172,Hereditary sensory and autonomic neuropathy type II,UMLS ID:C5574675,"Hereditary sensory and autonomic neuropathy type II (disorder) | Hereditary sensory and autonomic neuropathy type II | Hereditary sensory and autonomic neuropathy, type II | Painless whitlow disease | Dominant hereditary sensory neuropathy, type II",SNOMEDCT ID:398148000,,,hereditary sensory and autonomic neuropathy type 2,MONDO:0019941,,,,,, +BMGC_DS18784,BMG_DS072173,Hyaline fibromatosis syndrome,UMLS ID:C5574677,Hyaline fibromatosis syndrome | Hyaline fibromatosis syndrome (disorder),SNOMEDCT ID:1197494003,,,hyaline fibromatosis syndrome,MONDO:0009229,,,,,,OMIM ID:228600 +BMGC_DS18785,BMG_DS072174,Infantile systemic hyalinosis (disorder),UMLS ID:C5574678,Infantile systemic hyalinosis | Infantile systemic hyalinosis (disorder),SNOMEDCT ID:238867003,,,infantile systemic hyalinosis,MONDO:0016331,,,,,,OMIM ID:236490 +BMGC_DS18786,BMG_DS072176,CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2,UMLS ID:C5574705,,,,,congenital anomalies of kidney and urinary tract 2,MONDO:0027676,,,CAKUT2,DOID:0080207,,OMIM ID:143400 | OMIM ID:604613 +BMGC_DS18787,BMG_DS072177,Adenomyosis,UMLS ID:C5574708,Endometriosis of uterus | Endometriosis of uterus (disorder) | Endometriosis (& [adenomyosis]) | Adenomyosis - uterine endomet. | Endometriosis | Adenomyosis | Endometriosis (& [adenomyosis]) (disorder) | Endometriosis (& [adenomyosis]) | Adenomyosis - uterine endomet. | Adenomyosis | Endometriosis | Endometriosis (& [adenomyosis]) (disorder),SNOMEDCT ID:76376003 | SNOMEDCT ID:198246007 | SNOMEDCT ID:155988000,,,adenomyosis,MONDO:0010888,Adenomyosis,MeSH ID:D062788,,,,OMIM ID:600458 +BMGC_DS18788,BMG_DS072179,"Encephalomyelitis, Allergic",UMLS ID:C5574734,,,,,experimental autoimmune encephalomyelitis,MONDO:0005134,"Encephalomyelitis, Autoimmune, Experimental",MeSH ID:D004681,,,, +BMGC_DS18789,BMG_DS072183,Lysosomal acid lipase deficiency,UMLS ID:C5574740,LAL (Lysosomal acid lipase) deficiency | Lysosomal acid lipase deficiency | Lysosomal acid lipase deficiency (disorder) | LALD - Lysosomal acid lipase deficiency,SNOMEDCT ID:715923003,,,lysosomal acid lipase deficiency,MONDO:0800449,,,lysosomal acid lipase deficiency,DOID:0080217,, +BMGC_DS18790,BMG_DS072185,Discoid lupus erythematosus,UMLS ID:C5574816,Discoid lupus erythematosus | Discoid lupus erythematosus (disorder) | Discoid lupus erythematosus | DLE - Discoid lupus erythematosus | LE - Discoid lupus erythematosus | Discoid lupus erythematosus (disorder),SNOMEDCT ID:13902000 | SNOMEDCT ID:156365002 | SNOMEDCT ID:200938002,"Chronic cutaneous lupus erythematosus, unspecified",ICD11 ID:EB51.Z,discoid lupus erythematosus,MONDO:0019558,,,,,ICD10 ID:L93.0,OMIM ID:MTHU076645 +BMGC_DS18791,BMG_DS072186,Systemic sclerosis with limited cutaneous involvement,UMLS ID:C5574860,"Systemic sclerosis, limited | Systemic sclerosis, limited (disorder) | Limited cutaneous systemic sclerosis | Systemic sclerosis with limited cutaneous involvement | Systemic sclerosis with limited cutaneous involvement (disorder) | Acrosclerosis",SNOMEDCT ID:128459005 | SNOMEDCT ID:298285004,,,,,,,,,, +BMGC_DS18792,BMG_DS072188,Parkes Weber syndrome,UMLS ID:C5574870,Parkes Weber syndrome | Parkes Weber syndrome (disorder),SNOMEDCT ID:234143003,,,,,,,,,, +BMGC_DS18793,BMG_DS072190,"PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC",UMLS ID:C5574905,,,,,"phosphoenolpyruvate carboxykinase deficiency, cytosolic",MONDO:0009866,,,,,,OMIM ID:261680 | OMIM ID:614168 +BMGC_DS18794,BMG_DS072191,,UMLS ID:C5574918,,,,,preeclampsia/eclampsia 1,MONDO:0100467,,,,,,OMIM ID:189800 +BMGC_DS18795,BMG_DS072192,,UMLS ID:C5574922,,,,,catecholaminergic polymorphic ventricular tachycardia,MONDO:0017990,,,,,, +BMGC_DS18796,BMG_DS072194,Timothy syndrome type 1,UMLS ID:C5574939,Long QT syndrome with syndactyly | Timothy syndrome type 1 (disorder) | Timothy syndrome classic type | Timothy syndrome type 1,SNOMEDCT ID:699256006,,,Timothy syndrome type 1,MONDO:0035678,,,,,, +BMGC_DS18797,BMG_DS072195,Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria,UMLS ID:C5574940,"Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) | Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria | D,L-2-hydroxyglutaric acidaemia | D,L-2-hydroxyglutaric acidemia | Combined D-2-hydroxyglutaric acidaemia and L-2-hydroxyglutaric acidaemia",SNOMEDCT ID:713401006,,,"D,L-2-hydroxyglutaric aciduria",MONDO:0014072,,,combined D-2- and L-2-hydroxyglutaric aciduria,DOID:0111619,,OMIM ID:615182 +BMGC_DS18798,BMG_DS072196,"PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY",UMLS ID:C5574945,,,,,generalized epilepsy-paroxysmal dyskinesia syndrome,MONDO:0012276,,,paroxysmal nonkinesigenic dyskinesia 3,DOID:0070442,,OMIM ID:600150 | OMIM ID:609446 +BMGC_DS18799,BMG_DS072197,Congenital disorder of glycosylation type II,UMLS ID:C5574948,,,,,congenital disorder of glycosylation type II,MONDO:0005501,,MeSH ID:C535747,congenital disorder of glycosylation type II,DOID:0050571,, +BMGC_DS18800,BMG_DS072198,Netherton Syndrome,UMLS ID:C5574950,,,,,Netherton syndrome,MONDO:0009735,Netherton Syndrome,MeSH ID:D056770,,,,OMIM ID:256500 +BMGC_DS18801,BMG_DS072200,"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7",UMLS ID:C5574953,,,,,nonsyndromic congenital nail disorder 7,MONDO:0011595,,,nonsyndromic congenital nail disorder 7,DOID:0080085,,OMIM ID:605779 +BMGC_DS18802,BMG_DS072202,HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA,UMLS ID:C5574957,,,,,hypogonadotropic hypogonadism 24 without anosmia,MONDO:0009239,,,,,,OMIM ID:229070 +BMGC_DS18803,BMG_DS072203,Mesomelic dysplasia of upper limb,UMLS ID:C5574958,Mesomelic dysplasia of upper limb (disorder) | Mesomelic dysplasia of upper limb,SNOMEDCT ID:1010609002,,,upper limb mesomelic dysplasia,MONDO:0008620,,,,,,OMIM ID:191440 +BMGC_DS18804,BMG_DS072204,Patterson Stevenson Fontaine syndrome,UMLS ID:C5574964,Patterson Stevenson Fontaine syndrome (disorder) | Patterson Stevenson Fontaine syndrome | Split foot deformity with mandibulofacial dysostosis syndrome,SNOMEDCT ID:724069009,,,Patterson-Stevenson-Fontaine syndrome,MONDO:0008465,,MeSH ID:C536311,,,,OMIM ID:183700 +BMGC_DS18805,BMG_DS072205,,UMLS ID:C5574965,,,,,frontorhiny,MONDO:0007636,,,,,,OMIM ID:136760 +BMGC_DS18806,BMG_DS072206,,UMLS ID:C5574973,,,,,malignant Sertoli-Leydig cell tumor of ovary,MONDO:0020542,,,,,, +BMGC_DS18807,BMG_DS072208,,UMLS ID:C5574994,,,,,synpolydactyly type 1,MONDO:0008513,,,,,,OMIM ID:186000 +BMGC_DS18808,BMG_DS072209,IMMUNODEFICIENCY 48,UMLS ID:C5575025,,,,,combined immunodeficiency due to ZAP70 deficiency,MONDO:0010023,,,,,,OMIM ID:269840 | OMIM ID:176947 +BMGC_DS18809,BMG_DS072211,MAGEL2-related Prader-Willi-like syndrome,UMLS ID:C5575066,MAGE family member L2-related Prader-Willi-like syndrome (disorder) | MAGE family member L2-related Prader-Willi-like syndrome | MAGEL2-related Prader-Willi-like syndrome | Schaaf Yang syndrome,SNOMEDCT ID:1229946007,,,Schaaf-Yang syndrome,MONDO:0014243,,,,,,OMIM ID:208080 | OMIM ID:615547 +BMGC_DS18810,BMG_DS072212,Corticobasal syndrome,UMLS ID:C5575119,Corticobasal syndrome (disorder) | Corticobasal syndrome,SNOMEDCT ID:1230018005,,,corticobasal syndrome,MONDO:0018696,,,,,, +BMGC_DS18811,BMG_DS072213,"DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES",UMLS ID:C5575225,,,,,,,,,,,,OMIM ID:182790 +BMGC_DS18812,BMG_DS072215,,UMLS ID:C5575231,,,,,benign familial infantile epilepsy,MONDO:0017615,,,,,, +BMGC_DS18813,BMG_DS072216,,UMLS ID:C5575272,,,,,"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures",MONDO:0859263,,,,,,OMIM ID:619964 +BMGC_DS18814,BMG_DS072219,"CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE",UMLS ID:C5575335,,,,,"craniotubular dysplasia, Ikegawa type",MONDO:0859226,,,craniotubular dysplasia Ikegawa type,DOID:0112340,,OMIM ID:619727 | OMIM ID:619722 +BMGC_DS18815,BMG_DS072222,,UMLS ID:C5575375,,,,,autosomal recessive cerebellar ataxia,MONDO:0015244,,,,,, +BMGC_DS18816,BMG_DS072223,"AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2",UMLS ID:C5575495,,,,,"autoinflammatory syndrome, familial, X-linked, Behcet-like 2",MONDO:0024770,,,,,,OMIM ID:300775 | OMIM ID:301074 +BMGC_DS18817,BMG_DS072225,Severe primary trimethylaminuria,UMLS ID:C5575503,Severe primary trimethylaminuria (disorder) | Severe primary trimethylaminuria,SNOMEDCT ID:1237339005,,,severe primary trimethylaminuria,MONDO:0018767,,,,,,OMIM ID:602079 +BMGC_DS18818,BMG_DS072226,,UMLS ID:C5575558,,,,,severe Canavan disease,MONDO:0017830,,,,,, +BMGC_DS18819,BMG_DS072230,Contactin associated protein 2-related developmental and epileptic encephalopathy,UMLS ID:C5575702,"Contactin associated protein 2-related developmental and epileptic encephalopathy | CNTNAP2-related developmental and epileptic encephalopathy | Cortical dysplasia, focal epilepsy syndrome | Contactin associated protein 2-related developmental and epileptic encephalopathy (disorder)",SNOMEDCT ID:1230376005,,,,,,,,,, +BMGC_DS18820,BMG_DS072231,Atypical Timothy syndrome,UMLS ID:C5575746,Atypical long QT syndrome type 8 | Atypical Timothy syndrome (disorder) | Atypical Timothy syndrome | Timothy syndrome atypical type,SNOMEDCT ID:1230097004,,,"Timothy syndrome, atypical type",MONDO:0021172,,,,,, +BMGC_DS18821,BMG_DS072248,,UMLS ID:C5669918,,,,,"diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype",MONDO:0858939,,,,,, +BMGC_DS18822,BMG_DS072249,,UMLS ID:C5669919,,,,,infant-type hemispheric glioma,MONDO:0858940,,,,,, +BMGC_DS18823,BMG_DS072250,,UMLS ID:C5670122,,,,,high-grade astrocytoma with piloid features,MONDO:0858958,,,,,, +BMGC_DS18824,BMG_DS072257,,UMLS ID:C5670707,,,,,,,,,schwannomatosis 1,DOID:0070480,, +BMGC_DS18825,BMG_DS072258,,UMLS ID:C5670708,,,,,,,,,schwannomatosis 2,DOID:0070481,, +BMGC_DS18826,BMG_DS072263,Autoimmune Encephalitis,UMLS ID:C5671289,,,,,autoimmune encephalitis,MONDO:0020640,Autoimmune Diseases of the Nervous System,MeSH ID:D020274,,,, +BMGC_DS18827,BMG_DS072278,Autosomal dominant limb girdle muscular dystrophy,UMLS ID:C5675009,,,,,"muscular dystrophy, limb-girdle, autosomal dominant",MONDO:0015151,,,,,ICD10 ID:G71.031, +BMGC_DS18828,BMG_DS072459,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa",UMLS ID:C5676874,,,,,congenital dyserythropoietic anemia type 3,MONDO:0007109,,,,,,OMIM ID:105600 +BMGC_DS18829,BMG_DS072460,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA",UMLS ID:C5676875,,,,,junctional epidermolysis bullosa with pyloric atresia,MONDO:0009183,,,,,,OMIM ID:147557 | OMIM ID:226730 +BMGC_DS18830,BMG_DS072461,CAREY-FINEMAN-ZITER SYNDROME 1,UMLS ID:C5676876,,,,,Carey-Fineman-Ziter syndrome 1,MONDO:0800437,,,Carey-Fineman-Ziter syndrome,DOID:0080194,,OMIM ID:254940 +BMGC_DS18831,BMG_DS072462,"PULMONARY HYPERTENSION, PRIMARY, 5",UMLS ID:C5676877,,,,,"pulmonary hypertension, primary, autosomal recessive",MONDO:0009935,,,,,,OMIM ID:265400 | OMIM ID:610232 +BMGC_DS18832,BMG_DS072463,RESTRICTIVE DERMOPATHY 1,UMLS ID:C5676878,,,,,restrictive dermopathy 1,MONDO:0800042,,,restrictive dermopathy 1,DOID:0070369,,OMIM ID:275210 | OMIM ID:606480 +BMGC_DS18833,BMG_DS072464,"THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT",UMLS ID:C5676879,,,,,"thrombophilia, X-linked, due to factor 8 defect",MONDO:0859082,,,,,,OMIM ID:300841 | OMIM ID:301071 +BMGC_DS18834,BMG_DS072465,"MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED",UMLS ID:C5676880,,,,,"myopathy, distal, 7, adult-onset, X-linked",MONDO:0024771,,,,,,OMIM ID:300226 | OMIM ID:301075 +BMGC_DS18835,BMG_DS072466,,UMLS ID:C5676881,,,,,"intellectual developmental disorder, X-linked, syndromic, Pilorge type",MONDO:0024772,,,,,,OMIM ID:301076 +BMGC_DS18836,BMG_DS072467,"SPERMATOGENIC FAILURE, X-LINKED, 4",UMLS ID:C5676882,,,,,"spermatogenic failure, X-linked, 4",MONDO:0024773,,,X-linked spermatogenic failure 4,DOID:0070595,,OMIM ID:301077 | OMIM ID:300369 +BMGC_DS18837,BMG_DS072468,"IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED",UMLS ID:C5676883,,,,,"immunodeficiency 98 with autoinflammation, X-linked",MONDO:0024777,,,,,,OMIM ID:301078 | OMIM ID:300366 +BMGC_DS18838,BMG_DS072469,SYSTEMIC LUPUS ERYTHEMATOSUS 17,UMLS ID:C5676884,,,,,systemic lupus erythematosus 17,MONDO:0859083,,,,,,OMIM ID:300365 | OMIM ID:301080 +BMGC_DS18839,BMG_DS072470,"AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED",UMLS ID:C5676885,,,,,"autoinflammatory disease, X-linked",MONDO:0800129,,,,,,OMIM ID:300248 | OMIM ID:301081 +BMGC_DS18840,BMG_DS072471,IMMUNODEFICIENCY 102,UMLS ID:C5676886,,,,,immunodeficiency 102,MONDO:0024781,,,,,,OMIM ID:300441 | OMIM ID:301082 +BMGC_DS18841,BMG_DS072472,STUVE-WIEDEMANN SYNDROME 1,UMLS ID:C5676888,,,,,Stüve-Wiedemann syndrome 1,MONDO:0800043,,,,,,OMIM ID:151443 | OMIM ID:601559 +BMGC_DS18842,BMG_DS072473,"RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET",UMLS ID:C5676889,,,,,"retinitis pigmentosa 94, variable age at onset",MONDO:0800328,,,,,,OMIM ID:609868 | OMIM ID:604232 +BMGC_DS18843,BMG_DS072474,IMMUNODEFICIENCY 104,UMLS ID:C5676890,,,,,immunodeficiency 104,MONDO:0012163,,,,,,OMIM ID:146661 | OMIM ID:608971 +BMGC_DS18844,BMG_DS072475,,UMLS ID:C5676891,,,,,"thyroid hormone metabolism, abnormal 1",MONDO:0800046,,,,,,OMIM ID:609698 +BMGC_DS18845,BMG_DS072476,"MACROTHROMBOCYTOPENIA, ISOLATED, 1, AUTOSOMAL DOMINANT",UMLS ID:C5676892,,,,,"macrothrombocytopenia, isolated, 1, autosomal dominant",MONDO:0800047,,,,,,OMIM ID:612901 | OMIM ID:613112 +BMGC_DS18846,BMG_DS072477,"3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB",UMLS ID:C5676893,,,,,"3-methylglutaconic aciduria, type VIIB",MONDO:0014561,,,"3-methylglutaconic aciduria type 7b | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",DOID:0081134;DOID:0110003,,OMIM ID:616271 +BMGC_DS18847,BMG_DS072478,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES",UMLS ID:C5676894,,,,,"intellectual disability, autosomal dominant 40",MONDO:0014699,,,autosomal dominant intellectual developmental disorder 40,DOID:0070070,,OMIM ID:616327 | OMIM ID:616579 +BMGC_DS18848,BMG_DS072479,"CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2",UMLS ID:C5676895,,,,,"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",MONDO:0859567,,,"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",DOID:0081125,,OMIM ID:616994 | OMIM ID:619960 +BMGC_DS18849,BMG_DS072480,,UMLS ID:C5676896,,,,,"intellectual developmental disorder, autosomal dominant 69",MONDO:0029465,,,,,,OMIM ID:617863 +BMGC_DS18850,BMG_DS072481,KNOBLOCH SYNDROME 2,UMLS ID:C5676897,,,,,Knobloch syndrome 2,MONDO:0100119,,,,,,OMIM ID:605022 | OMIM ID:618458 +BMGC_DS18851,BMG_DS072482,,UMLS ID:C5676898,,,,,"heterotaxy, visceral, 12, autosomal",MONDO:0859222,,,,,,OMIM ID:619702 +BMGC_DS18852,BMG_DS072483,IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY,UMLS ID:C5676899,,,,,immunodeficiency 93 and hypertrophic cardiomyopathy,MONDO:0030528,,,,,,OMIM ID:610594 | OMIM ID:619705 +BMGC_DS18853,BMG_DS072484,"AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT",UMLS ID:C5676900,,,,,"agammaglobulinemia 10, autosomal dominant",MONDO:0030529,,,agammaglobulinemia 10,DOID:0081142,,OMIM ID:165170 | OMIM ID:619707 +BMGC_DS18854,BMG_DS072485,GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2,UMLS ID:C5676901,,,,,gastrointestinal defects and immunodeficiency syndrome 2,MONDO:0030669,,,,,,OMIM ID:600286 | OMIM ID:619708 +BMGC_DS18855,BMG_DS072486,,UMLS ID:C5676902,,,,,"intellectual developmental disorder, autosomal recessive 73",MONDO:0030533,,,,,,OMIM ID:619717 +BMGC_DS18856,BMG_DS072487,HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA,UMLS ID:C5676903,,,,,hypogonadotropic hypogonadism 26 with or without anosmia,MONDO:0030534,,,,,,OMIM ID:619718 +BMGC_DS18857,BMG_DS072488,INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME,UMLS ID:C5676904,,,,,intellectual disability and myopathy syndrome,MONDO:0859224,,,intellectual disability and myopathy syndrome,DOID:0070600,,OMIM ID:601439 | OMIM ID:619719 +BMGC_DS18858,BMG_DS072489,BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1,UMLS ID:C5676905,,,,,Bryant-Li-Bhoj neurodevelopmental syndrome 1,MONDO:0030606,,,Bryant-Li-Bhoj neurodevelopmental syndrome 1,DOID:0051011,,OMIM ID:601128 | OMIM ID:619720 +BMGC_DS18859,BMG_DS072490,BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2,UMLS ID:C5676906,,,,,Bryant-Li-Bhoj neurodevelopmental syndrome 2,MONDO:0030607,,,Bryant-Li-Bhoj neurodevelopmental syndrome 2,DOID:0051012,,OMIM ID:619721 | OMIM ID:601058 +BMGC_DS18860,BMG_DS072491,"DYSTONIA 34, MYOCLONIC",UMLS ID:C5676907,,,,,"dystonia 34, myoclonic",MONDO:0030538,,,myoclonic dystonia 34,DOID:0060957,,OMIM ID:619724 | OMIM ID:605879 +BMGC_DS18861,BMG_DS072492,NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES,UMLS ID:C5676908,,,,,neurodevelopmental disorder with or without variable movement or behavioral abnormalities,MONDO:0859225,,,,,,OMIM ID:605879 | OMIM ID:619725 +BMGC_DS18862,BMG_DS072493,INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES,UMLS ID:C5676909,,,,,inclusion body myopathy and brain white matter abnormalities,MONDO:0850514,,,inclusion body myopathy and brain white matter abnormalities,DOID:0081121,,OMIM ID:602572 | OMIM ID:619733 +BMGC_DS18863,BMG_DS072494,"SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE",UMLS ID:C5676910,,,,,"spastic paraplegia 86, autosomal recessive",MONDO:0030673,,,hereditary spastic paraplegia 86,DOID:0112342,,OMIM ID:142620 | OMIM ID:619735 +BMGC_DS18864,BMG_DS072495,TEEBI HYPERTELORISM SYNDROME 2,UMLS ID:C5676911,,,,,Teebi hypertelorism syndrome 2,MONDO:0030674,,,Teebi hypertelorism syndrome 2,DOID:0081074,,OMIM ID:619736 | OMIM ID:600023 +BMGC_DS18865,BMG_DS072496,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54,UMLS ID:C5676912,,,,,combined oxidative phosphorylation deficiency 54,MONDO:0030543,,,combined oxidative phosphorylation deficiency 54,DOID:0070427,,OMIM ID:609947 | OMIM ID:619737 +BMGC_DS18866,BMG_DS072497,"PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET",UMLS ID:C5676913,,,,,"parkinsonism-dystonia 3, childhood-onset",MONDO:0030676,,,,,,OMIM ID:604733 | OMIM ID:619738 +BMGC_DS18867,BMG_DS072498,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I",UMLS ID:C5676914,,,,,"Charcot-Marie-Tooth disease, demyelinating, IIA 1I",MONDO:0030677,,,,,,OMIM ID:619742 | OMIM ID:614366 +BMGC_DS18868,BMG_DS072499,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55,UMLS ID:C5676915,,,,,combined oxidative phosphorylation deficiency 55,MONDO:0859228,,,combined oxidative phosphorylation deficiency 55,DOID:0070428,,OMIM ID:619743 | OMIM ID:601778 +BMGC_DS18869,BMG_DS072500,NOONAN SYNDROME 14,UMLS ID:C5676916,,,,,Noonan syndrome 14,MONDO:0030679,,,,,,OMIM ID:609292 | OMIM ID:619745 +BMGC_DS18870,BMG_DS072501,"CARDIOMYOPATHY, DILATED, 2F",UMLS ID:C5676917,,,,,"cardiomyopathy, dilated, 2F",MONDO:0030680,,,dilated cardiomyopathy 2F,DOID:0081162,,OMIM ID:603885 | OMIM ID:619747 +BMGC_DS18871,BMG_DS072502,IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES,UMLS ID:C5676918,,,,,immunodeficiency 94 with autoinflammation and dysmorphic facies,MONDO:0030681,,,,,,OMIM ID:600694 | OMIM ID:619750 +BMGC_DS18872,BMG_DS072503,STUVE-WIEDEMANN SYNDROME 2,UMLS ID:C5676919,,,,,Stuve-Wiedemann syndrome 2,MONDO:0030756,,,,,,OMIM ID:600694 | OMIM ID:619751 +BMGC_DS18873,BMG_DS072504,"HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS",UMLS ID:C5676920,,,,,"hyper-IgE recurrent infection syndrome 4A, autosomal dominant",MONDO:0800131,,,,,,OMIM ID:600694 | OMIM ID:619752 +BMGC_DS18874,BMG_DS072505,HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA,UMLS ID:C5676921,,,,,hypogonadotropic hypogonadism 27 without anosmia,MONDO:0030684,,,,,,OMIM ID:162361 | OMIM ID:619755 +BMGC_DS18875,BMG_DS072506,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1,UMLS ID:C5676922,,,,,Tessadori-van Haaften neurodevelopmental syndrome 1,MONDO:0030729,,,,,,OMIM ID:602827 | OMIM ID:619758 +BMGC_DS18876,BMG_DS072507,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2,UMLS ID:C5676923,,,,,Tessadori-van Haaften neurodevelopmental syndrome 2,MONDO:0030730,,,,,,OMIM ID:602826 | OMIM ID:619759 +BMGC_DS18877,BMG_DS072508,"CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM",UMLS ID:C5676924,,,,,"cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism",MONDO:0859229,,,,,,OMIM ID:619761 | OMIM ID:616741 +BMGC_DS18878,BMG_DS072509,KURY-ISIDOR SYNDROME,UMLS ID:C5676925,,,,,Kury-Isidor syndrome,MONDO:0859230,,,,,,OMIM ID:603089 | OMIM ID:619762 +BMGC_DS18879,BMG_DS072510,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H",UMLS ID:C5676926,,,,,"Charcot-Marie-Tooth disease, demyelinating, IIA 1H",MONDO:0030689,,,,,,OMIM ID:604580 | OMIM ID:619764 +BMGC_DS18880,BMG_DS072511,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6",UMLS ID:C5676927,,,,,"pulmonary fibrosis and/or bone marrow failure, telomere-related, 6",MONDO:0030690,,,,,,OMIM ID:179835 | OMIM ID:619767 +BMGC_DS18881,BMG_DS072512,"MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN",UMLS ID:C5676928,,,,,"macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin",MONDO:0859231,,,,,,OMIM ID:619769 | OMIM ID:605878 +BMGC_DS18882,BMG_DS072513,IMMUNODEFICIENCY 95,UMLS ID:C5676929,,,,,immunodeficiency 95,MONDO:0030692,,,,,,OMIM ID:606951 | OMIM ID:619773 +BMGC_DS18883,BMG_DS072514,IMMUNODEFICIENCY 96,UMLS ID:C5676930,,,,,immunodeficiency 96,MONDO:0030693,,,,,,OMIM ID:126391 | OMIM ID:619774 +BMGC_DS18884,BMG_DS072515,CONGENITAL DISORDER OF DEGLYCOSYLATION 2,UMLS ID:C5676931,,,,,congenital disorder of deglycosylation 2,MONDO:0030770,,,congenital disorder of deglycosylation 2,DOID:0060990,,OMIM ID:619775 | OMIM ID:154580 +BMGC_DS18885,BMG_DS072516,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100,UMLS ID:C5676932,,,,,developmental and epileptic encephalopathy 100,MONDO:0030695,,,developmental and epileptic encephalopathy 100,DOID:0070386,,OMIM ID:619777 | OMIM ID:609100 +BMGC_DS18886,BMG_DS072517,MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE),UMLS ID:C5676934,,,,,mitochondrial DNA depletion syndrome 20 (mngie type),MONDO:0030696,,,mitochondrial DNA depletion syndrome 20,DOID:0070451,,OMIM ID:600940 | OMIM ID:619780 +BMGC_DS18887,BMG_DS072518,"MYOPIA 28, AUTOSOMAL RECESSIVE",UMLS ID:C5676935,,,,,"myopia 28, autosomal recessive",MONDO:0030697,,,,,,OMIM ID:607163 | OMIM ID:619781 +BMGC_DS18888,BMG_DS072519,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE",UMLS ID:C5676936,,,,,"epidermolysis bullosa, junctional 2A, intermediate",MONDO:0030746,,,,,,OMIM ID:600805 | OMIM ID:619783 +BMGC_DS18889,BMG_DS072520,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE",UMLS ID:C5676937,,,,,"epidermolysis bullosa, junctional 2B, severe",MONDO:0030747,,,,,,OMIM ID:619784 | OMIM ID:600805 +BMGC_DS18890,BMG_DS072521,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE",UMLS ID:C5676938,,,,,"epidermolysis bullosa, junctional 3A, intermediate",MONDO:0030748,,,,,,OMIM ID:150292 | OMIM ID:619785 +BMGC_DS18891,BMG_DS072522,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE",UMLS ID:C5676939,,,,,"epidermolysis bullosa, junctional 3B, severe",MONDO:0030749,,,,,,OMIM ID:150292 | OMIM ID:619786 +BMGC_DS18892,BMG_DS072523,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE",UMLS ID:C5676940,,,,,"Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive",MONDO:0030711,,,congenital dyserythropoietic anemia type IIIb,DOID:0051001,,OMIM ID:619789 +BMGC_DS18893,BMG_DS072524,OCULOPHARYNGODISTAL MYOPATHY 4,UMLS ID:C5676941,,,,,oculopharyngodistal myopathy 4,MONDO:0030712,,,oculopharyngodistal myopathy 4,DOID:0081300,,OMIM ID:614092 | OMIM ID:619790 +BMGC_DS18894,BMG_DS072525,RESTRICTIVE DERMOPATHY 2,UMLS ID:C5676942,,,,,restrictive dermopathy 2,MONDO:0030781,,,restrictive dermopathy 2,DOID:0070370,,OMIM ID:619793 | OMIM ID:150330 +BMGC_DS18895,BMG_DS072526,"OSTEOGENESIS IMPERFECTA, TYPE XXII",UMLS ID:C5676943,,,,,"osteogenesis imperfecta, IIA 22",MONDO:0030714,,,,,,OMIM ID:619795 | OMIM ID:618788 +BMGC_DS18896,BMG_DS072527,NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES,UMLS ID:C5676944,,,,,neurodevelopmental disorder with central hypotonia and dysmorphic facies,MONDO:0859232,,,,,,OMIM ID:619797 | OMIM ID:605314 +BMGC_DS18897,BMG_DS072528,SPERMATOGENIC FAILURE 66,UMLS ID:C5676945,,,,,spermatogenic failure 66,MONDO:0030716,,,spermatogenic failure 66,DOID:0070565,,OMIM ID:608498 | OMIM ID:619799 +BMGC_DS18898,BMG_DS072529,IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION,UMLS ID:C5676946,,,,,immunodeficiency 97 with autoinflammation,MONDO:0030717,,,,,,OMIM ID:601232 | OMIM ID:619802 +BMGC_DS18899,BMG_DS072530,SPERMATOGENIC FAILURE 67,UMLS ID:C5676947,,,,,spermatogenic failure 67,MONDO:0030718,,,spermatogenic failure 67,DOID:0070566,,OMIM ID:613481 | OMIM ID:619803 +BMGC_DS18900,BMG_DS072531,"DEAFNESS, AUTOSOMAL DOMINANT 82",UMLS ID:C5676948,,,,,"hearing loss, autosomal dominant 82",MONDO:0030719,,,autosomal dominant nonsyndromic deafness 82,DOID:0070603,,OMIM ID:619804 | OMIM ID:108733 +BMGC_DS18901,BMG_DS072532,SPERMATOGENIC FAILURE 68,UMLS ID:C5676949,,,,,spermatogenic failure 68,MONDO:0030721,,,spermatogenic failure 68,DOID:0070567,,OMIM ID:619776 | OMIM ID:619805 +BMGC_DS18902,BMG_DS072533,SPINOCEREBELLAR ATAXIA 49,UMLS ID:C5676950,,,,,spinocerebellar ataxia 49,MONDO:0030805,,,,,,OMIM ID:611170 | OMIM ID:619806 +BMGC_DS18903,BMG_DS072534,"DEAFNESS, AUTOSOMAL DOMINANT 83",UMLS ID:C5676951,,,,,"hearing loss, autosomal dominant 83",MONDO:0030723,,,autosomal dominant nonsyndromic deafness 83,DOID:0070609,,OMIM ID:157129 | OMIM ID:619808 +BMGC_DS18904,BMG_DS072535,"DEAFNESS, AUTOSOMAL DOMINANT 84",UMLS ID:C5676952,,,,,"hearing loss, autosomal dominant 84",MONDO:0030724,,,autosomal dominant nonsyndromic deafness 84,DOID:0070604,,OMIM ID:619810 | OMIM ID:605868 +BMGC_DS18905,BMG_DS072536,"NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT",UMLS ID:C5676954,,,,,"neutropenia, severe congenital, 9, autosomal dominant",MONDO:0030726,,,,,,OMIM ID:616254 | OMIM ID:619813 +BMGC_DS18906,BMG_DS072537,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101,UMLS ID:C5676955,,,,,developmental and epileptic encephalopathy 101,MONDO:0030727,,,developmental and epileptic encephalopathy 101,DOID:0070387,,OMIM ID:138249 | OMIM ID:619814 +BMGC_DS18907,BMG_DS072538,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE",UMLS ID:C5676956,,,,,"epidermolysis bullosa, junctional 5A, intermediate",MONDO:0030768,,,,,,OMIM ID:147557 | OMIM ID:619816 +BMGC_DS18908,BMG_DS072539,"EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA",UMLS ID:C5676957,,,,,"epidermolysis bullosa, junctional 6, with pyloric atresia",MONDO:0859233,,,,,,OMIM ID:619817 | OMIM ID:147556 +BMGC_DS18909,BMG_DS072540,"AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE",UMLS ID:C5676958,,,,,"agammaglobulinemia 8b, autosomal recessive",MONDO:0859234,,,agammaglobulinemia 8B,DOID:0081143,,OMIM ID:147141 | OMIM ID:619824 +BMGC_DS18910,BMG_DS072541,"AORTIC ANEURYSM, FAMILIAL THORACIC 12",UMLS ID:C5676959,,,,,"aortic aneurysm, familial thoracic 12",MONDO:0030731,,,,,,OMIM ID:614476 | OMIM ID:619825 +BMGC_DS18911,BMG_DS072542,SPERMATOGENIC FAILURE 69,UMLS ID:C5676960,,,,,spermatogenic failure 69,MONDO:0030732,,,spermatogenic failure 69,DOID:0070568,,OMIM ID:619826 | OMIM ID:609966 +BMGC_DS18912,BMG_DS072543,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY",UMLS ID:C5676961,,,,,"intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly",MONDO:0030785,,,autosomal recessive intellectual developmental disorder 75,DOID:0081234,,OMIM ID:619827 | OMIM ID:605247 +BMGC_DS18913,BMG_DS072544,SPERMATOGENIC FAILURE 70,UMLS ID:C5676962,,,,,spermatogenic failure 70,MONDO:0030733,,,spermatogenic failure 70,DOID:0070569,,OMIM ID:179061 | OMIM ID:619828 +BMGC_DS18914,BMG_DS072545,SPERMATOGENIC FAILURE 71,UMLS ID:C5676963,,,,,spermatogenic failure 71,MONDO:0030787,,,spermatogenic failure 71,DOID:0070570,,OMIM ID:614535 | OMIM ID:619831 +BMGC_DS18915,BMG_DS072546,"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3",UMLS ID:C5676964,,,,,"auditory neuropathy, autosomal dominant 3",MONDO:0859235,,,autosomal dominant auditory neuropathy 3,DOID:0112373,,OMIM ID:619832 | OMIM ID:612048 +BMGC_DS18916,BMG_DS072547,NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES,UMLS ID:C5676965,,,,,neurodevelopmental disorder with neuromuscular and skeletal abnormalities,MONDO:0859236,,,,,,OMIM ID:601581 | OMIM ID:619833 +BMGC_DS18917,BMG_DS072548,OVARIAN DYSGENESIS 10,UMLS ID:C5676966,,,,,ovarian dysgenesis 10,MONDO:0030736,,,ovarian dysgenesis 10,DOID:0061014,,OMIM ID:614535 | OMIM ID:619834 +BMGC_DS18918,BMG_DS072549,"3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA",UMLS ID:C5676967,,,,,"3-methylglutaconic aciduria, type VIIA",MONDO:0859237,,,3-methylglutaconic aciduria type 7a,DOID:0081133,,OMIM ID:619835 +BMGC_DS18919,BMG_DS072550,"MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT",UMLS ID:C5676968,,,,,"macrothrombocytopenia, isolated, 2, autosomal dominant",MONDO:0030827,,,autosomal dominant isolated macrothrombocytopenia 2,DOID:0060995,,OMIM ID:605742 | OMIM ID:619840 +BMGC_DS18920,BMG_DS072551,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY,UMLS ID:C5676969,,,,,intellectual developmental disorder with or without peripheral neuropathy,MONDO:0859240,,,,,,OMIM ID:619844 +BMGC_DS18921,BMG_DS072552,RETINITIS PIGMENTOSA 93,UMLS ID:C5676970,,,,,retinitis pigmentosa 93,MONDO:0030797,,,,,,OMIM ID:619845 | OMIM ID:612013 +BMGC_DS18922,BMG_DS072553,IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS,UMLS ID:C5676971,,,,,immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias,MONDO:0030798,,,,,,OMIM ID:611537 | OMIM ID:619846 +BMGC_DS18923,BMG_DS072554,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY",UMLS ID:C5676972,,,,,"neurodegeneration, childhood-onset, with progressive microcephaly",MONDO:0859241,,,,,,OMIM ID:188345 | OMIM ID:619847 +BMGC_DS18924,BMG_DS072555,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9",UMLS ID:C5676973,,,,,"cholestasis, progressive familial intrahepatic, 9",MONDO:0030800,,,,,,OMIM ID:619635 | OMIM ID:619849 +BMGC_DS18925,BMG_DS072556,"LEUKODYSTROPHY, HYPOMYELINATING, 24",UMLS ID:C5676974,,,,,"leukodystrophy, hypomyelinating, 24",MONDO:0859242,,,hypomyelinating leukodystrophy 24,DOID:0070406,,OMIM ID:619851 +BMGC_DS18926,BMG_DS072557,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES",UMLS ID:C5676975,,,,,"neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities",MONDO:0859243,,,,,,OMIM ID:619854 | OMIM ID:139310 +BMGC_DS18927,BMG_DS072558,,UMLS ID:C5676976,,,,,"thyroid hormone metabolism, abnormal, 2",MONDO:0030839,,,,,,OMIM ID:619855 +BMGC_DS18928,BMG_DS072559,AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME,UMLS ID:C5676977,,,,,autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency,MONDO:0800132,,,,,,OMIM ID:126350 | OMIM ID:619858 +BMGC_DS18929,BMG_DS072560,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32",UMLS ID:C5676978,,,,,"spinocerebellar ataxia, autosomal recessive 32",MONDO:0859245,,,autosomal recessive spinocerebellar ataxia 32,DOID:0070413,,OMIM ID:604769 | OMIM ID:619862 +BMGC_DS18930,BMG_DS072561,"LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING",UMLS ID:C5676979,,,,,"leukodystrophy, childhood-onset, remitting",MONDO:0859246,,,,,,OMIM ID:619864 | OMIM ID:603027 +BMGC_DS18931,BMG_DS072562,SPERMATOGENIC FAILURE 72,UMLS ID:C5676980,,,,,spermatogenic failure 72,MONDO:0030809,,,spermatogenic failure 72,DOID:0070571,,OMIM ID:619867 | OMIM ID:608151 +BMGC_DS18932,BMG_DS072563,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10",UMLS ID:C5676981,,,,,"cholestasis, progressive familial intrahepatic, 10",MONDO:0030810,,,,,,OMIM ID:619868 | OMIM ID:606540 +BMGC_DS18933,BMG_DS072564,"CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET",UMLS ID:C5676982,,,,,"corneal dystrophy, punctiform and polychromatic pre-descemet",MONDO:0859248,,,,,,OMIM ID:604769 | OMIM ID:619871 +BMGC_DS18934,BMG_DS072565,IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC),UMLS ID:C5676983,,,,,immunodeficiency 101 (varicella zoster virus-specific),MONDO:0030813,,,,,,OMIM ID:617455 | OMIM ID:619872 +BMGC_DS18935,BMG_DS072566,PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5676984,,,,,parenti-mignot neurodevelopmental syndrome,MONDO:0859249,,,,,,OMIM ID:610771 | OMIM ID:619873 +BMGC_DS18936,BMG_DS072567,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11",UMLS ID:C5676985,,,,,"cholestasis, progressive familial intrahepatic, 11",MONDO:0030815,,,,,,OMIM ID:607961 | OMIM ID:619874 +BMGC_DS18937,BMG_DS072568,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES",UMLS ID:C5676986,,,,,"neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures",MONDO:0859250,,,,,,OMIM ID:619876 | OMIM ID:606029 +BMGC_DS18938,BMG_DS072569,DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5676987,,,,,Dentici-Novelli neurodevelopmental syndrome,MONDO:0859251,,,,,,OMIM ID:614387 | OMIM ID:619877 +BMGC_DS18939,BMG_DS072570,SPERMATOGENIC FAILURE 73,UMLS ID:C5676988,,,,,spermatogenic failure 73,MONDO:0030818,,,spermatogenic failure 73,DOID:0070572,,OMIM ID:605794 | OMIM ID:619878 +BMGC_DS18940,BMG_DS072571,MECKEL SYNDROME 14,UMLS ID:C5676989,,,,,meckel syndrome 14,MONDO:0030819,,,,,,OMIM ID:617778 | OMIM ID:619879 +BMGC_DS18941,BMG_DS072572,NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES,UMLS ID:C5676990,,,,,neurodevelopmental disorder with poor growth and skeletal anomalies,MONDO:0859252,,,,,,OMIM ID:619880 | OMIM ID:606305 +BMGC_DS18942,BMG_DS072573,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102,UMLS ID:C5676991,,,,,developmental and epileptic encephalopathy 102,MONDO:0030881,,,developmental and epileptic encephalopathy 102,DOID:0070388,,OMIM ID:619881 | OMIM ID:604437 +BMGC_DS18943,BMG_DS072574,"OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY",UMLS ID:C5676992,,,,,"osteoporosis, childhood- or juvenile-onset, with developmental delay",MONDO:0859253,,,,,,OMIM ID:606990 | OMIM ID:619884 +BMGC_DS18944,BMG_DS072575,RENAL HYPODYSPLASIA/APLASIA 4,UMLS ID:C5676993,,,,,renal hypodysplasia/aplasia 4,MONDO:0030822,,,,,,OMIM ID:601496 | OMIM ID:619887 +BMGC_DS18945,BMG_DS072576,HOLOPROSENCEPHALY 14,UMLS ID:C5676994,,,,,holoprosencephaly 14,MONDO:0030886,,,,,,OMIM ID:612835 | OMIM ID:619895 +BMGC_DS18946,BMG_DS072577,"CARDIOMYOPATHY, DILATED, 2G",UMLS ID:C5676995,,,,,"cardiomyopathy, dilated, 2G",MONDO:0030887,,,dilated cardiomyopathy 2G,DOID:0081163,,OMIM ID:619897 | OMIM ID:608006 +BMGC_DS18947,BMG_DS072578,HEPATORENOCARDIAC DEGENERATIVE FIBROSIS,UMLS ID:C5676996,,,,,hepatorenocardiac degenerative fibrosis,MONDO:0859254,,,,,,OMIM ID:604730 | OMIM ID:619902 +BMGC_DS18948,BMG_DS072579,"PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE",UMLS ID:C5676997,,,,,"peripheral motor neuropathy, childhood-onset, biotin-responsive",MONDO:0859255,,,,,,OMIM ID:604024 | OMIM ID:619903 +BMGC_DS18949,BMG_DS072580,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES,UMLS ID:C5676998,,,,,neurodevelopmental disorder with language delay and seizures,MONDO:0859256,,,neurodevelopmental disorder with language delay and seizures,DOID:0070444,,OMIM ID:619908 | OMIM ID:600687 +BMGC_DS18950,BMG_DS072581,"PONTOCEREBELLAR HYPOPLASIA, TYPE 17",UMLS ID:C5676999,,,,,"pontocerebellar hypoplasia, IIA 17",MONDO:0030890,,,,,,OMIM ID:619909 | OMIM ID:616741 +BMGC_DS18951,BMG_DS072582,,UMLS ID:C5677000,,,,,"intellectual developmental disorder, autosomal dominant 66",MONDO:0030891,,,,,,OMIM ID:619910 +BMGC_DS18952,BMG_DS072583,INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM,UMLS ID:C5677001,,,,,intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism,MONDO:0859257,,,,,,OMIM ID:601828 | OMIM ID:619911 +BMGC_DS18953,BMG_DS072584,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103,UMLS ID:C5677002,,,,,developmental and epileptic encephalopathy 103,MONDO:0030957,,,developmental and epileptic encephalopathy 103,DOID:0070389,,OMIM ID:176256 | OMIM ID:619913 +BMGC_DS18954,BMG_DS072585,"DYSTONIA 35, CHILDHOOD-ONSET",UMLS ID:C5677003,,,,,"dystonia 35, childhood-onset",MONDO:0030958,,,"dystonia 35, childhood-onset",DOID:0060955,,OMIM ID:613663 | OMIM ID:619921 +BMGC_DS18955,BMG_DS072586,NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES,UMLS ID:C5677004,,,,,neurodevelopmental disorder with dystonia and seizures,MONDO:0859258,,,,,,OMIM ID:619922 | OMIM ID:613663 +BMGC_DS18956,BMG_DS072587,IMMUNODEFICIENCY 105,UMLS ID:C5677005,,,,,immunodeficiency 105,MONDO:0800104,,,,,,OMIM ID:151460 | OMIM ID:619924 +BMGC_DS18957,BMG_DS072588,,UMLS ID:C5677006,,,,,"intellectual developmental disorder, autosomal dominant 67",MONDO:0030964,,,,,,OMIM ID:619927 +BMGC_DS18958,BMG_DS072589,,UMLS ID:C5677007,,,,,"intellectual developmental disorder, autosomal recessive 76",MONDO:0030968,,,,,,OMIM ID:619931 +BMGC_DS18959,BMG_DS072590,,UMLS ID:C5677008,,,,,"intellectual developmental disorder, autosomal dominant 68",MONDO:0030969,,,,,,OMIM ID:619934 +BMGC_DS18960,BMG_DS072591,"IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS",UMLS ID:C5677009,,,,,"immunodeficiency 106, susceptibility to viral infections",MONDO:0030970,,,,,,OMIM ID:107450 | OMIM ID:619935 +BMGC_DS18961,BMG_DS072592,SPERMATOGENIC FAILURE 74,UMLS ID:C5677010,,,,,spermatogenic failure 74,MONDO:0030972,,,spermatogenic failure 74,DOID:0070573,,OMIM ID:603382 | OMIM ID:619937 +BMGC_DS18962,BMG_DS072593,PREMATURE OVARIAN FAILURE 20,UMLS ID:C5677011,,,,,premature ovarian failure 20,MONDO:0030975,,,,,,OMIM ID:619938 | OMIM ID:602105 +BMGC_DS18963,BMG_DS072594,CAREY-FINEMAN-ZITER SYNDROME 2,UMLS ID:C5677012,,,,,Carey-Fineman-Ziter syndrome 2,MONDO:0100292,,,,,,OMIM ID:619912 | OMIM ID:619941 +BMGC_DS18964,BMG_DS072595,"WAARDENBURG SYNDROME, TYPE 2F",UMLS ID:C5677013,,,,,"Waardenburg syndrome, IIa 2F",MONDO:0030983,,,,,,OMIM ID:184745 | OMIM ID:619947 +BMGC_DS18965,BMG_DS072596,SPERMATOGENIC FAILURE 75,UMLS ID:C5677014,,,,,spermatogenic failure 75,MONDO:0030984,,,spermatogenic failure 75,DOID:0070574,,OMIM ID:618038 | OMIM ID:619949 +BMGC_DS18966,BMG_DS072598,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4,UMLS ID:C5677016,,,,,Tessadori-Van Haaften neurodevelopmental syndrome 4,MONDO:0031000,,,,,,OMIM ID:619951 | OMIM ID:602833 +BMGC_DS18967,BMG_DS072599,DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5677017,,,,,Dworschak-Punetha neurodevelopmental syndrome,MONDO:0859260,,,,,,OMIM ID:601055 | OMIM ID:619955 +BMGC_DS18968,BMG_DS072600,,UMLS ID:C5677018,,,,,attention deficit-hyperactivity disorder 8,MONDO:0859261,,,,,,OMIM ID:619957 +BMGC_DS18969,BMG_DS072601,ACCES SYNDROME,UMLS ID:C5677019,,,,,ACCES syndrome,MONDO:0859262,,,,,,OMIM ID:613295 | OMIM ID:619959 +BMGC_DS18970,BMG_DS072602,NEUROCARDIOFACIODIGITAL SYNDROME,UMLS ID:C5677020,,,,,neurocardiofaciodigital syndrome,MONDO:0859247,,,,,,OMIM ID:606723 | OMIM ID:619869 +BMGC_DS18971,BMG_DS072603,"CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1",UMLS ID:C5677021,,,,,"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1",MONDO:0800436,,,"craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1",DOID:0081124,,OMIM ID:614123 | OMIM ID:213980 +BMGC_DS18972,BMG_DS072604,CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5677022,,,,,Chilton-Okur-Chung neurodevelopmental syndrome,MONDO:0859239,,,,,,OMIM ID:619841 | OMIM ID:614062 +BMGC_DS18973,BMG_DS072605,CHROMOSOME 2q23.1 DUPLICATION SYNDROME,UMLS ID:C5677023,,,,,,,,,autosomal dominant intellectual developmental disorder 1,DOID:0070031,,OMIM ID:156200 +BMGC_DS18974,BMG_DS072606,CHROMOSOME Xq25 TRIPLICATION SYNDROME,UMLS ID:C5677024,,,,,,,,,,,,OMIM ID:300979 +BMGC_DS18975,BMG_DS072607,DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE,UMLS ID:C5677027,,,,,,,,,hereditary diffuse gastric cancer,DOID:0080764,,OMIM ID:137215 | OMIM ID:192090 +BMGC_DS18976,BMG_DS072608,"HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE",UMLS ID:C5677030,,,,,"hypoalphalipoproteinemia, primary, 2, intermediate",MONDO:0859238,,,,,,OMIM ID:107680 | OMIM ID:619836 +BMGC_DS18977,BMG_DS072619,"ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb",UMLS ID:C5677049,,,,,,,,,,,,OMIM ID:604980 +BMGC_DS18978,BMG_DS072625,CUBITUS VALGUS WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND UNUSUAL FACIES,UMLS ID:C5677056,,,,,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,MONDO:0010332,,,,,,OMIM ID:300471 +BMGC_DS18979,BMG_DS072626,CHROMOSOME Xq13 DUPLICATION SYNDROME,UMLS ID:C5677057,,,,,chromosome Xq13 duplication syndrome,MONDO:0859081,,,,,,OMIM ID:301069 +BMGC_DS18980,BMG_DS072629,,UMLS ID:C5679572,,,,,isolated congenital growth hormone deficiency,MONDO:0000050,,,,,, +BMGC_DS18981,BMG_DS072630,Mild hereditary factor IX deficiency disease,UMLS ID:C5679574,Mild hereditary factor IX deficiency disease | Mild hemophilia B | Mild haemophilia B | Mild hereditary factor IX deficiency disease (disorder),SNOMEDCT ID:1336091009,,,mild hemophilia B,MONDO:0015717,,,,,, +BMGC_DS18982,BMG_DS072631,Moderate hereditary factor IX deficiency disease,UMLS ID:C5679575,Moderate hereditary factor IX deficiency disease (disorder) | Moderate hereditary factor IX deficiency disease | Moderate haemophilia B | Moderate hemophilia B,SNOMEDCT ID:1336092002,,,moderately severe hemophilia B,MONDO:0015716,,,,,, +BMGC_DS18983,BMG_DS072632,Severe hereditary factor IX deficiency disease,UMLS ID:C5679576,Severe hereditary factor IX deficiency disease | Severe hereditary factor IX deficiency disease (disorder) | Severe hemophilia B | Severe haemophilia B,SNOMEDCT ID:1336093007,,,severe hemophilia B,MONDO:0015715,,,,,, +BMGC_DS18984,BMG_DS072633,,UMLS ID:C5679577,,,,,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,MONDO:0015701,,,,,, +BMGC_DS18985,BMG_DS072634,,UMLS ID:C5679578,,,,,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,MONDO:0015703,,,,,, +BMGC_DS18986,BMG_DS072635,,UMLS ID:C5679579,,,,,T-B+ severe combined immunodeficiency due to CD45 deficiency,MONDO:0015702,,,,,, +BMGC_DS18987,BMG_DS072638,,UMLS ID:C5679591,,,,,male infertility due to globozoospermia,MONDO:0015746,,,,,, +BMGC_DS18988,BMG_DS072642,,UMLS ID:C5679612,,,,,Joubert syndrome and related disorders,MONDO:0015369,,,,,, +BMGC_DS18989,BMG_DS072643,"46,XX ovotesticular disorder of sex development",UMLS ID:C5679613,"46,XX ovotesticular disorder of sex development (disorder) | 46,XX ovotesticular disorder of sex development",SNOMEDCT ID:1234906009,,,"46,XX ovotesticular disorder of sex development",MONDO:0016281,,,,,, +BMGC_DS18990,BMG_DS072644,,UMLS ID:C5679614,,,,,autosomal recessive ataxia due to PEX10 deficiency,MONDO:0016614,,,,,, +BMGC_DS18991,BMG_DS072645,,UMLS ID:C5679615,,,,,APC-related attenuated familial adenomatous polyposis,MONDO:0016613,,,,,, +BMGC_DS18992,BMG_DS072646,,UMLS ID:C5679618,,,,,acute neonatal citrullinemia type I,MONDO:0016600,,,,,, +BMGC_DS18993,BMG_DS072651,,UMLS ID:C5679639,,,,,paternal 14q32.2 microdeletion syndrome,MONDO:0016780,,,,,, +BMGC_DS18994,BMG_DS072652,,UMLS ID:C5679640,,,,,maternal 14q32.2 microdeletion syndrome,MONDO:0016781,,,,,, +BMGC_DS18995,BMG_DS072683,,UMLS ID:C5679679,,,,,Alagille syndrome due to 20p12 microdeletion,MONDO:0016861,,,,,, +BMGC_DS18996,BMG_DS072684,,UMLS ID:C5679681,,,,,Mowat-Wilson syndrome due to a ZEB2 point mutation,MONDO:0016856,,,,,, +BMGC_DS18997,BMG_DS072685,,UMLS ID:C5679682,,,,,Okihiro syndrome due to 20q13 microdeletion,MONDO:0016863,,,,,, +BMGC_DS18998,BMG_DS072686,,UMLS ID:C5679683,,,,,Okihiro syndrome due to a point mutation,MONDO:0016864,,,,,, +BMGC_DS18999,BMG_DS072692,,UMLS ID:C5679693,,,,,,,,,peeling skin syndrome 1,DOID:0070520,, +BMGC_DS19000,BMG_DS072722,,UMLS ID:C5679767,,,,,isolated focal cortical dysplasia type Ia,MONDO:0017096,,,,,, +BMGC_DS19001,BMG_DS072723,,UMLS ID:C5679768,,,,,isolated focal cortical dysplasia type IIb,MONDO:0017102,,,,,, +BMGC_DS19002,BMG_DS072725,,UMLS ID:C5679774,,,,,congenital communicating hydrocephalus,MONDO:0017116,,,,,, +BMGC_DS19003,BMG_DS072726,,UMLS ID:C5679776,,,,,"Pelizaeus-Merzbacher disease, connatal form",MONDO:0017221,,,,,, +BMGC_DS19004,BMG_DS072729,,UMLS ID:C5679780,,,,,"mucopolysaccharidosis type 6, slowly progressing",MONDO:0017172,,,,,, +BMGC_DS19005,BMG_DS072730,,UMLS ID:C5679781,,,,,"mucopolysaccharidosis type 6, rapidly progressing",MONDO:0017171,,,,,, +BMGC_DS19006,BMG_DS072731,,UMLS ID:C5679782,,,,,syndromic microphthalmia,MONDO:0016073,,,,,, +BMGC_DS19007,BMG_DS072735,,UMLS ID:C5679787,,,,,qualitative or quantitative defects of dystrophin,MONDO:0016147,,,,,, +BMGC_DS19008,BMG_DS072736,,UMLS ID:C5679788,,,,,LAMA2-related muscular dystrophy,MONDO:0100228,,,,,, +BMGC_DS19009,BMG_DS072737,,UMLS ID:C5679790,,,,,caveolinopathy,MONDO:0016146,,,,,, +BMGC_DS19010,BMG_DS072740,,UMLS ID:C5679802,,,,,familial ovarian cancer,MONDO:0016248,,,,,, +BMGC_DS19011,BMG_DS072741,,UMLS ID:C5679804,,,,,papillary carcinoma of the corpus uteri,MONDO:0016268,,,,,, +BMGC_DS19012,BMG_DS072744,,UMLS ID:C5679810,,,,,isolated congenitally uncorrected transposition of the great arteries,MONDO:0016302,,,,,, +BMGC_DS19013,BMG_DS072746,,UMLS ID:C5679812,,,,,classic pantothenate kinase-associated neurodegeneration,MONDO:0016304,,,,,, +BMGC_DS19014,BMG_DS072747,,UMLS ID:C5679813,,,,,"Niemann-Pick disease type C, juvenile neurologic onset",MONDO:0016309,,,,,, +BMGC_DS19015,BMG_DS072748,,UMLS ID:C5679814,,,,,Bockenheimer syndrome,MONDO:0016311,,,,,, +BMGC_DS19016,BMG_DS072749,,UMLS ID:C5679815,,,,,"mucopolysaccharidosis type 2, attenuated form",MONDO:0016316,,,,,, +BMGC_DS19017,BMG_DS072750,Combined immunodeficiency due to DOCK8 deficiency,UMLS ID:C5679816,Combined immunodeficiency due to DOCK8 deficiency | Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency | Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency (disorder) | Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency | DOCK8 immunodeficiency syndrome,SNOMEDCT ID:1197205005,,,,,,,,,, +BMGC_DS19018,BMG_DS072752,,UMLS ID:C5679825,,,,,mitochondrial oxidative phosphorylation disorder,MONDO:0016387,,,,,, +BMGC_DS19019,BMG_DS072754,,UMLS ID:C5679828,,,,,isolated anophthalmia-microphthalmia syndrome,MONDO:0016764,,,,,, +BMGC_DS19020,BMG_DS072755,,UMLS ID:C5679833,,,,,Hermansky-Pudlak syndrome without pulmonary fibrosis,MONDO:0016502,,,,,, +BMGC_DS19021,BMG_DS072756,,UMLS ID:C5679834,,,,,Hermansky-Pudlak syndrome with pulmonary fibrosis,MONDO:0016501,,,,,, +BMGC_DS19022,BMG_DS072761,,UMLS ID:C5679845,,,,,apolipoprotein A-II amyloidosis,MONDO:0016533,,,,,, +BMGC_DS19023,BMG_DS072762,Autosomal dominant generalized dystrophic epidermolysis bullosa,UMLS ID:C5679846,Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) | Generalised DDEB (generalised dystrophic epidermolysis bullosa) | Generalized DDEB (generalized dystrophic epidermolysis bullosa) | Autosomal dominant generalized dystrophic epidermolysis bullosa | Autosomal dominant generalised dystrophic epidermolysis bullosa | DDEB (dominant dystrophic epidermolysis bullosa) intermediate,SNOMEDCT ID:1231284001,,,,,,,,,, +BMGC_DS19024,BMG_DS072764,,UMLS ID:C5679849,,,,,isolated congenital hypogonadotropic hypogonadism,MONDO:0016553,,,,,, +BMGC_DS19025,BMG_DS072765,,UMLS ID:C5679850,,,,,progressive supranuclear palsy-progressive non-fluent aphasia syndrome,MONDO:0016564,,,,,, +BMGC_DS19026,BMG_DS072766,,UMLS ID:C5679851,,,,,progressive supranuclear palsy-pure akinesia with gait freezing syndrome,MONDO:0016562,,,,,, +BMGC_DS19027,BMG_DS072768,,UMLS ID:C5679855,,,,,hemoglobin Lepore-beta-thalassemia syndrome,MONDO:0018022,,,,,, +BMGC_DS19028,BMG_DS072771,,UMLS ID:C5679860,,,,,acute megakaryoblastic leukemia without down syndrome,MONDO:0018004,,,,,, +BMGC_DS19029,BMG_DS072772,,UMLS ID:C5679869,,,,,classic congenital lipoid adrenal hyperplasia due to STAR deficency,MONDO:0017972,,,,,, +BMGC_DS19030,BMG_DS072774,,UMLS ID:C5679882,,,,,ABetaL34V amyloidosis,MONDO:0017945,,,,,, +BMGC_DS19031,BMG_DS072775,,UMLS ID:C5679883,,,,,classic multiminicore myopathy,MONDO:0017939,,,,,, +BMGC_DS19032,BMG_DS072776,Multiple paraganglioma associated with polycythemia,UMLS ID:C5679884,"Paraganglioma, somatostatinoma, polycythemia syndrome | Multiple paraganglioma associated with polycythaemia | Multiple paraganglioma associated with erythrocytosis | Paraganglioma, somatostatinoma, polycythaemia syndrome | Multiple paraganglioma associated with polycythemia (disorder) | Multiple paraganglioma associated with polycythemia",SNOMEDCT ID:1197217007,,,multiple paragangliomas associated with polycythemia,MONDO:0017926,,,,,, +BMGC_DS19033,BMG_DS072781,,UMLS ID:C5679895,,,,,"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",MONDO:0017840,,,,,, +BMGC_DS19034,BMG_DS072782,,UMLS ID:C5679896,,,,,"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",MONDO:0017839,,,,,, +BMGC_DS19035,BMG_DS072784,Primary hypereosinophilic syndrome,UMLS ID:C5679898,Primary hypereosinophilic syndrome | Primary hypereosinophilic syndrome (disorder) | Clonal hypereosinophilic syndrome | Neoplastic hypereosinophilic syndrome | Primary HES (hypereosinophilic syndrome) | HES-N - hypereosinophilic syndrome neoplastic,SNOMEDCT ID:1264010001,,,primary hypereosinophilic syndrome,MONDO:0017833,,,,,, +BMGC_DS19036,BMG_DS072786,,UMLS ID:C5679900,,,,,autosomal recessive spastic ataxia,MONDO:0017847,,,,,, +BMGC_DS19037,BMG_DS072788,,UMLS ID:C5679911,,,,,muscular dystrophy-dystroglycanopathy,MONDO:0018276,,,,,, +BMGC_DS19038,BMG_DS072789,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",UMLS ID:C5679913,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder)",SNOMEDCT ID:1208937004,,,,,,,,,, +BMGC_DS19039,BMG_DS072790,Alexander disease type II,UMLS ID:C5679914,Alexander disease type II | AxD (Alexander disease) type II | Alexander disease type II (disorder),SNOMEDCT ID:1332388003,,,Alexander disease type II,MONDO:0018210,,,,,, +BMGC_DS19040,BMG_DS072791,Hemolytic uremic syndrome with DGKE deficiency,UMLS ID:C5679921,Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency | Hemolytic uremic syndrome with diacylglycerol kinase epsilon deficiency (disorder) | Haemolytic uraemic syndrome with DGKE deficiency | Hemolytic uremic syndrome with DGKE deficiency | Haemolytic uraemic syndrome with diacylglycerol kinase epsilon deficiency,SNOMEDCT ID:1269225005,,,atypical hemolytic-uremic syndrome with DGKE deficiency,MONDO:0018159,,,,,, +BMGC_DS19041,BMG_DS072792,,UMLS ID:C5679922,,,,,"autosomal recessive cutis laxa type 2, classic type",MONDO:0009054,,,,,, +BMGC_DS19042,BMG_DS072793,,UMLS ID:C5679923,,,,,minimal pigment oculocutaneous albinism type 1,MONDO:0018136,,,,,, +BMGC_DS19043,BMG_DS072794,,UMLS ID:C5679925,,,,,neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion,MONDO:0018131,,,,,, +BMGC_DS19044,BMG_DS072795,,UMLS ID:C5679927,,,,,"pyruvate carboxylase deficiency, benign type",MONDO:0018143,,,,,, +BMGC_DS19045,BMG_DS072796,,UMLS ID:C5679928,,,,,"pyruvate carboxylase deficiency, infantile form",MONDO:0018141,,,,,, +BMGC_DS19046,BMG_DS072797,,UMLS ID:C5679929,,,,,"pyruvate carboxylase deficiency, severe neonatal type",MONDO:0018142,,,,,, +BMGC_DS19047,BMG_DS072806,,UMLS ID:C5679943,,,,,familial clubfoot due to PITX1 point mutation,MONDO:0017383,,,,,, +BMGC_DS19048,BMG_DS072807,,UMLS ID:C5679944,,,,,familial clubfoot due to 5q31 microdeletion,MONDO:0017382,,,,,, +BMGC_DS19049,BMG_DS072808,,UMLS ID:C5679945,,,,,tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,MONDO:0017389,,,,,, +BMGC_DS19050,BMG_DS072810,4H leukodystrophy,UMLS ID:C5679947,4H leukodystrophy (disorder) | 4H leucodystrophy | 4H leukodystrophy | POLR-related leucodystrophy | POLR-related leukodystrophy,SNOMEDCT ID:1208933000,,,POLR3-related leukodystrophy,MONDO:0700282,,,,,, +BMGC_DS19051,BMG_DS072812,,UMLS ID:C5679949,,,,,pseudoxanthomatous diffuse cutaneous mastocytosis,MONDO:0017244,,,,,, +BMGC_DS19052,BMG_DS072818,,UMLS ID:C5679956,,,,,methylcobalamin deficiency type cblDv1,MONDO:0017683,,,,,, +BMGC_DS19053,BMG_DS072819,,UMLS ID:C5679969,,,,,"glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",MONDO:0017699,,,,,, +BMGC_DS19054,BMG_DS072820,,UMLS ID:C5679972,,,,,"glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",MONDO:0017695,,,,,, +BMGC_DS19055,BMG_DS072821,,UMLS ID:C5679974,,,,,"alpha-mannosidosis, adult form",MONDO:0017733,,,,,, +BMGC_DS19056,BMG_DS072825,,UMLS ID:C5679983,,,,,zygodactyly type 3,MONDO:0017544,,,,,, +BMGC_DS19057,BMG_DS072828,Symptomatic form of hemochromatosis type 1,UMLS ID:C5679990,Symptomatic form of hemochromatosis type 1 (disorder) | Symptomatic form of classic hemochromatosis | Symptomatic form of hemochromatosis type 1 | Symptomatic form of classic haemochromatosis | Symptomatic form of haemochromatosis type 1,SNOMEDCT ID:1237181009,,,,,,,,,, +BMGC_DS19058,BMG_DS072829,,UMLS ID:C5679991,,,,,intellectual disability syndrome due to a DYRK1A point mutation,MONDO:0018733,,,,,, +BMGC_DS19059,BMG_DS072831,,UMLS ID:C5679993,,,,,hereditary neuroendocrine tumor of small intestine,MONDO:0018698,,,,,, +BMGC_DS19060,BMG_DS072832,Congenital insensitivity to pain with severe intellectual disability,UMLS ID:C5679994,Congenital analgesia with severe intellectual disability | Congenital absence of pain with severe intellectual disability | Congenital insensitivity to pain with severe intellectual disability (disorder) | Congenital insensitivity to pain with severe intellectual disability | Congenital insensitivity to pain with preserved temperature sensation | Congenital insensitivity to pain with severe non-progressive cognitive delay,SNOMEDCT ID:1237623009,,,congenital insensitivity to pain with severe intellectual disability,MONDO:0018682,,,,,, +BMGC_DS19061,BMG_DS072834,19p13.3 microduplication syndrome,UMLS ID:C5679996,19p13.3 microduplication syndrome (disorder) | 19p13.3 microduplication syndrome,SNOMEDCT ID:1229883008,,,19p13.3 microduplication syndrome,MONDO:0018658,,,,,, +BMGC_DS19062,BMG_DS072841,,UMLS ID:C5680012,,,,,AXIN2-related attenuated familial adenomatous polyposis,MONDO:0018426,,,,,, +BMGC_DS19063,BMG_DS072843,,UMLS ID:C5680016,,,,,mild phosphoribosylpyrophosphate synthetase superactivity,MONDO:0018463,,,,,, +BMGC_DS19064,BMG_DS072844,,UMLS ID:C5680017,,,,,severe phosphoribosylpyrophosphate synthetase superactivity,MONDO:0018464,,,,,, +BMGC_DS19065,BMG_DS072847,,UMLS ID:C5680024,,,,,adult-onset myasthenia gravis,MONDO:0018324,,,,,, +BMGC_DS19066,BMG_DS072848,,UMLS ID:C5680025,,,,,"HSD10 disease, infantile type",MONDO:0018322,,,,,, +BMGC_DS19067,BMG_DS072849,,UMLS ID:C5680026,,,,,"HSD10 disease, neonatal type",MONDO:0018323,,,,,, +BMGC_DS19068,BMG_DS072850,,UMLS ID:C5680028,,,,,"multiple acyl-CoA dehydrogenase deficiency, mild type",MONDO:0018333,,,,,, +BMGC_DS19069,BMG_DS072851,,UMLS ID:C5680029,,,,,"multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",MONDO:0018332,,,,,, +BMGC_DS19070,BMG_DS072857,SIM1-related Prader-Willi-like syndrome,UMLS ID:C5680040,SIM bHLH transcription factor 1-related Prader-Willi-like syndrome | SIM1-related Prader-Willi-like syndrome | SIM bHLH transcription factor 1-related Prader-Willi-like syndrome (disorder),SNOMEDCT ID:1229943004,,,SIM1-related Prader-Willi-like syndrome,MONDO:0018355,,,,,, +BMGC_DS19071,BMG_DS072860,"Intellectual disability, expressive aphasia, facial dysmorphism syndrome",UMLS ID:C5680043,"Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) | Intellectual disability, loss of expressive language, facial dysmorphism syndrome | Intellectual disability, expressive aphasia, facial dysmorphism syndrome",SNOMEDCT ID:1197593006,,,,,,,,,, +BMGC_DS19072,BMG_DS072861,"Combined immunodeficiency, enteropathy spectrum",UMLS ID:C5680044,"CID-MIA/early-onset IBD - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease | Combined immunodeficiency, enteropathy spectrum | Combined immunodeficiency, enteropathy spectrum (disorder)",SNOMEDCT ID:1197428008,,,gastrointestinal defects and immunodeficiency syndrome 1,MONDO:0800030,,,,,,OMIM ID:243150 +BMGC_DS19073,BMG_DS072862,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,UMLS ID:C5680045,PXE-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,SNOMEDCT ID:1220599002,,,pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,MONDO:0018577,,,,,, +BMGC_DS19074,BMG_DS072863,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,UMLS ID:C5680046,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | Autosomal recessive primary immunodeficiency with defective spontaneous NK (natural killer) cell cytotoxicity | CD16 deficiency | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (disorder),SNOMEDCT ID:1197366007,,,,,,,,,, +BMGC_DS19075,BMG_DS072872,"Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome",UMLS ID:C5680056,"Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) | Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome | Autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome",SNOMEDCT ID:1229999001,,,autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,MONDO:0018601,,,,,, +BMGC_DS19076,BMG_DS072873,,UMLS ID:C5680057,,,,,undetermined early-onset epileptic encephalopathy,MONDO:0018614,,,,,, +BMGC_DS19077,BMG_DS072876,Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency,UMLS ID:C5680060,Postural orthostatic tachycardia syndrome due to NET (norepinephrine transporter) deficiency | Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency | Familial orthostatic tachycardia due to norepinephrine transporter deficiency | Orthostatic intolerance due to NET (norepinephrine transporter) deficiency | Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency (disorder) | POTS (postural orthostatic tachycardia syndrome) due to NET (norepinephrine transporter) deficiency,SNOMEDCT ID:1217211002,,,,,,,,,, +BMGC_DS19078,BMG_DS072881,Primary immunodeficiency with multifaceted aberrant lymphoid immunity,UMLS ID:C5680065,Primary immunodeficiency with multifaceted aberrant lymphoid immunity | NIK deficiency | NF-kappa-B-inducing kinase deficiency | Primary immunodeficiency with multifaceted aberrant lymphoid immunity (disorder),SNOMEDCT ID:1197478005,,,NIK deficiency,MONDO:0018642,,,,,, +BMGC_DS19079,BMG_DS072882,,UMLS ID:C5680067,,,,,tremor-ataxia-central hypomyelination syndrome,MONDO:0018656,,,,,, +BMGC_DS19080,BMG_DS072888,3-methylglutaconic aciduria type 8,UMLS ID:C5680084,3-methylglutaconic aciduria type 8 | 3-methylglutaconic aciduria type 8 (disorder),SNOMEDCT ID:1222671009,,,,,,,,,, +BMGC_DS19081,BMG_DS072889,9q33.3q34.11 microdeletion syndrome,UMLS ID:C5680085,9q33.3q34.11 microdeletion syndrome | Deletion 9q33.3q34.11 | 9q33.3q34.11 microdeletion syndrome (disorder) | Monosomy 9q33.3q34.11,SNOMEDCT ID:1228886008,,,9q33.3q34.11 microdeletion syndrome,MONDO:0044641,,,,,, +BMGC_DS19082,BMG_DS072890,16p13.2 microdeletion syndrome,UMLS ID:C5680086,16p13.2 microdeletion syndrome (disorder) | 16p13.2 microdeletion syndrome | Monosomy 16p13.2,SNOMEDCT ID:1228890005,,,Hao-Fountain syndrome due to 16p13.2 microdeletion,MONDO:0100528,,,,,, +BMGC_DS19083,BMG_DS072893,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,UMLS ID:C5680092,Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) | Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome | MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,SNOMEDCT ID:1251451005,,,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,MONDO:0044682,,,,,, +BMGC_DS19084,BMG_DS072896,,UMLS ID:C5680095,,,,,congenital bile acid synthesis defect,MONDO:0018841,,,,,, +BMGC_DS19085,BMG_DS072899,,UMLS ID:C5680100,,,,,MYO5B-related progressive familial intrahepatic cholestasis,MONDO:0018804,,,,,, +BMGC_DS19086,BMG_DS072901,,UMLS ID:C5680106,,,,,demyelinating hereditary motor and sensory neuropathy,MONDO:0018776,,,,,, +BMGC_DS19087,BMG_DS072905,Syndromic congenital sodium diarrhea,UMLS ID:C5680120,Syndromic congenital sodium diarrhoea | Syndromic congenital sodium diarrhea | Syndromic congenital sodium diarrhea (disorder) | Syndromic congenital tufting enteropathy,SNOMEDCT ID:1222709003,,,syndromic congenital sodium diarrhea,MONDO:0034204,,,,,, +BMGC_DS19088,BMG_DS072909,Primary triglyceride deposit cardiomyovasculopathy,UMLS ID:C5680124,Primary triglyceride deposit cardiomyovasculopathy (disorder) | Primary triglyceride deposit cardiomyovasculopathy | Neutral lipid storage disease with severe cardiovascular involvement,SNOMEDCT ID:1279844009,,,triglyceride deposit cardiomyovasculopathy,MONDO:0035423,,,,,, +BMGC_DS19089,BMG_DS072912,Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha,UMLS ID:C5680127,Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha | Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder) | Resistance to thyroid hormone alpha | Resistance to thyroid hormone due to mutation in TRa,SNOMEDCT ID:1260240000,,,resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,MONDO:0034216,,,,,, +BMGC_DS19090,BMG_DS072913,,UMLS ID:C5680128,,,,,acute mast cell leukemia,MONDO:0035444,,,,,, +BMGC_DS19091,BMG_DS072914,Congenital autosomal recessive small-platelet thrombocytopenia,UMLS ID:C5680129,Congenital autosomal recessive small-platelet thrombocytopenia (disorder) | Congenital autosomal recessive small-platelet thrombocytopenia | CARST - congenital autosomal recessive small-platelet thrombocytopenia,SNOMEDCT ID:1208617001,,,congenital autosomal recessive small-platelet thrombocytopenia,MONDO:0035441,,,,,, +BMGC_DS19092,BMG_DS072915,,UMLS ID:C5680130,,,,,chronic mast cell leukemia,MONDO:0035445,,,,,, +BMGC_DS19093,BMG_DS072919,AKT2-related familial partial lipodystrophy,UMLS ID:C5680134,AKT serine/threonine kinase 2-related familial partial lipodystrophy | AKT2-related familial partial lipodystrophy | AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder),SNOMEDCT ID:1197746001,,,AKT2-related familial partial lipodystrophy,MONDO:0019192,,,,,, +BMGC_DS19094,BMG_DS072921,Congenital primary lymphedema of Gordon,UMLS ID:C5680138,VEGFC-related congenital primary lymphedema | Congenital primary lymphedema of Gordon (disorder) | Congenital primary lymphedema of Gordon | Congenital primary lymphoedema of Gordon | VEGFC-related congenital primary lymphoedema,SNOMEDCT ID:1222669009,,,congenital primary lymphedema of Gordon,MONDO:0035500,,,,,, +BMGC_DS19095,BMG_DS072922,EPHB4-related lymphatic-related hydrops fetalis,UMLS ID:C5680140,Ephrin receptor B4-related lymphatic-related hydrops fetalis | Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder) | EPHB4-related lymphatic-related hydrops fetalis | EPHB4-related generalised lymphatic dysplasia with non-immune hydrops fetalis | EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis | EPHB4-related generalised lymphatic dysplasia with atrial septal defect | EPHB4-related generalized lymphatic dysplasia with atrial septal defect,SNOMEDCT ID:1222666002,,,EPHB4-related lymphatic-related hydrops fetalis,MONDO:0035475,,,,,, +BMGC_DS19096,BMG_DS072923,KRT1-related diffuse nonepidermolytic keratoderma,UMLS ID:C5680142,KRT1-related diffuse nonepidermolytic keratoderma | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder) | Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma | KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma),SNOMEDCT ID:1222645005,,,,,,,KRT1-related nonepidermolytic palmoplantar keratoderma,DOID:0070550,, +BMGC_DS19097,BMG_DS072924,,UMLS ID:C5680143,,,,,progressive dementia with neuroserpin inclusion bodies,MONDO:0035161,,,,,, +BMGC_DS19098,BMG_DS072925,,UMLS ID:C5680148,,,,,neurometabolic disorder due to serine deficiency,MONDO:0018162,,,,,, +BMGC_DS19099,BMG_DS072927,Myopathic Ehlers-Danlos syndrome,UMLS ID:C5680153,Myopathic EDS (Ehlers-Danlos syndrome) | Myopathic Ehlers-Danlos syndrome (disorder) | Myopathic Ehlers-Danlos syndrome | Ehlers-Danlos myopathy overlap syndrome,SNOMEDCT ID:1255116001,,,,,,,,,, +BMGC_DS19100,BMG_DS072929,,UMLS ID:C5680155,,,,,PLG-related hereditary angioedema with normal C1inh,MONDO:0035220,,,,,, +BMGC_DS19101,BMG_DS072930,Ulcerative pyoderma gangrenosum,UMLS ID:C5680157,Ulcerative pyoderma gangrenosum | Ulcerative pyoderma gangrenosum (disorder),SNOMEDCT ID:1256055008,,,classic pyoderma gangrenosum,MONDO:0035235,,,,,, +BMGC_DS19102,BMG_DS072931,,UMLS ID:C5680158,,,,,vegetative pyoderma gangrenosum,MONDO:0035238,,,,,, +BMGC_DS19103,BMG_DS072933,SYNGAP1-related developmental and epileptic encephalopathy,UMLS ID:C5680163,Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) | SYNGAP1-related developmental and epileptic encephalopathy | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy,SNOMEDCT ID:1222656005,,,SYNGAP1-related developmental and epileptic encephalopathy,MONDO:0034099,,,,,, +BMGC_DS19104,BMG_DS072936,Atypical hemolytic uremic syndrome with complement gene abnormality,UMLS ID:C5680166,Atypical haemolytic uraemic syndrome with complement gene abnormality | Atypical hemolytic uremic syndrome with complement gene abnormality (disorder) | Atypical hemolytic uremic syndrome with complement gene abnormality | aHUS (atypical haemolytic uraemic syndrome) with complement gene abnormality | aHUS (atypical hemolytic uremic syndrome) with complement gene abnormality,SNOMEDCT ID:1293264009,,,atypical hemolytic uremic syndrome with complement gene abnormality,MONDO:0035290,,,,,, +BMGC_DS19105,BMG_DS072938,,UMLS ID:C5680171,,,,,early-onset familial hypoaldosteronism,MONDO:0035320,,,,,, +BMGC_DS19106,BMG_DS072940,,UMLS ID:C5680178,,,,,autosomal dominant intermediate Charcot-Marie-Tooth disease,MONDO:0019548,,,,,, +BMGC_DS19107,BMG_DS072942,"Congenital insensitivity to pain, anosmia, neuropathic arthropathy",UMLS ID:C5680180,"Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain | Congenital insensitivity to pain, anosmia, neuropathic arthropathy | SCN9A-related congenital insensitivity to pain | Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)",SNOMEDCT ID:1279831004,,,,,,,,,, +BMGC_DS19108,BMG_DS072943,,UMLS ID:C5680181,,,,,autosomal recessive non-syndromic intellectual disability,MONDO:0019502,,,,,, +BMGC_DS19109,BMG_DS072944,Non-syndromic genetic hearing loss,UMLS ID:C5680182,Non-syndromic genetic deafness | Non-syndromic genetic hearing loss | Non-syndromic genetic hearing loss (disorder) | Isolated genetic hearing loss | Isolated genetic deafness,SNOMEDCT ID:1260199008,,,nonsyndromic genetic hearing loss,MONDO:0019497,,,,,, +BMGC_DS19110,BMG_DS072945,"Congenital vertebral, cardiac, renal anomalies syndrome",UMLS ID:C5680183,"Congenital vertebral, cardiac, renal anomalies syndrome (disorder) | Congenital NAD deficiency disorder | Congenital vertebral, cardiac, renal anomalies syndrome",SNOMEDCT ID:1260142000,,,congenital vertebral-cardiac-renal anomalies syndrome,MONDO:0020831,,,,,, +BMGC_DS19111,BMG_DS072946,17q24.2 microdeletion syndrome,UMLS ID:C5680185,17q24.2 microdeletion syndrome (disorder) | 17q24.2 microdeletion syndrome,SNOMEDCT ID:1229873009,,,17q24.2 microdeletion syndrome,MONDO:0035151,,,,,, +BMGC_DS19112,BMG_DS072948,,UMLS ID:C5680192,,,,,X-linked nonsyndromic hearing loss,MONDO:0019586,,,,,, +BMGC_DS19113,BMG_DS072949,Duane retraction syndrome with congenital deafness,UMLS ID:C5680193,Duane retraction syndrome with congenital deafness | Duane retraction syndrome with congenital deafness (disorder) | Duane retraction syndrome with congenital hearing loss,SNOMEDCT ID:1230014007,,,Duane retraction syndrome with congenital deafness,MONDO:0035337,,,,,, +BMGC_DS19114,BMG_DS072952,,UMLS ID:C5680203,,,,,mild phenylketonuria,MONDO:0019258,,,,,, +BMGC_DS19115,BMG_DS072954,,UMLS ID:C5680206,,,,,"HSD10 disease, atypical type",MONDO:0037149,,,,,, +BMGC_DS19116,BMG_DS072955,,UMLS ID:C5680207,,,,,mild hyperphenylalaninemia,MONDO:0019335,,,,,, +BMGC_DS19117,BMG_DS072957,KLHL7-related Bohring Opitz-like syndrome,UMLS ID:C5680210,KLHL7-related Bohring Opitz-like syndrome | Kelch like family member 7-related Bohring Opitz-like syndrome | Kelch like family member 7-related Bohring Opitz-like syndrome (disorder) | KLHL7 (kelch like family member 7) related Bohring Opitz-like syndrome,SNOMEDCT ID:1300133004,,,KLHL7-related Bohring-Opitz-like syndrome,MONDO:0035823,,,,,, +BMGC_DS19118,BMG_DS072958,KLHL7-related Crisponi/cold-induced sweating-like syndrome,UMLS ID:C5680211,KLHL7-related Crisponi-like syndrome | Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) | Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome | KLHL7-related Crisponi/cold-induced sweating-like syndrome | KLHL7 (kelch like family member 7) related Crisponi/cold-induced sweating-like syndrome,SNOMEDCT ID:1304117006,,,KLHL7-related cold-induced sweating-like syndrome,MONDO:0035824,,,,,, +BMGC_DS19119,BMG_DS072965,,UMLS ID:C5680247,,,,,silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,MONDO:0019913,,,,,, +BMGC_DS19120,BMG_DS072966,,UMLS ID:C5680248,,,,,maternal uniparental disomy of chromosome 14,MONDO:0019915,,,,,, +BMGC_DS19121,BMG_DS072968,,UMLS ID:C5680251,,,,,paternal uniparental disomy of chromosome 14,MONDO:0011975,,,,,,OMIM ID:608149 +BMGC_DS19122,BMG_DS072977,,UMLS ID:C5680265,,,,,euthyroid dysprealbuminemic hyperthyroxinemia,MONDO:0036045,,,,,, +BMGC_DS19123,BMG_DS072978,,UMLS ID:C5680266,,,,,KAT6B-related multiple congenital anomalies syndrome,MONDO:0036042,,,,,, +BMGC_DS19124,BMG_DS072979,,UMLS ID:C5680267,,,,,AFib amyloidosis,MONDO:0019733,,,,,, +BMGC_DS19125,BMG_DS072981,,UMLS ID:C5680269,,,,,AApoAI amyloidosis,MONDO:0019731,,,,,, +BMGC_DS19126,BMG_DS072982,,UMLS ID:C5680270,,,,,ALys amyloidosis,MONDO:0019732,,,,,, +BMGC_DS19127,BMG_DS072985,Hypomyelination of early myelinating structures,UMLS ID:C5680278,Hypomyelination of early myelinating structures (disorder) | Hypomyelination of early myelinating structures | HEMS - hypomyelination of early myelinating structures,SNOMEDCT ID:1300130001,,,,,,,,,, +BMGC_DS19128,BMG_DS072991,Combined immunodeficiency due to RELA haploinsufficiency,UMLS ID:C5680288,Combined immunodeficiency due to RELA haploinsufficiency (disorder) | Combined immunodeficiency due to RELA haploinsufficiency,SNOMEDCT ID:1336027001,,,combined immunodeficiency due to RELA haploinsufficiency,MONDO:0035694,,,,,, +BMGC_DS19129,BMG_DS072993,,UMLS ID:C5680290,,,,,complete atrioventricular canal-ventricle hypoplasia syndrome,MONDO:0020407,,,,,, +BMGC_DS19130,BMG_DS072997,,UMLS ID:C5680294,,,,,"atrial septal defect, ostium primum type",MONDO:0020437,,,,,, +BMGC_DS19131,BMG_DS073004,"GNAO1-related developmental delay, seizures, movement disorder spectrum",UMLS ID:C5680303,"G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder) | GNAO1-related developmental delay, seizures, movement disorder spectrum | GNAO1-related spectrum | G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum",SNOMEDCT ID:1281842000,,,GNAO1-related developmental delay-seizures-movement disorder spectrum,MONDO:0035660,,,,,, +BMGC_DS19132,BMG_DS073005,,UMLS ID:C5680305,,,,,congenital-onset Steinert myotonic dystrophy,MONDO:0035646,,,,,, +BMGC_DS19133,BMG_DS073006,,UMLS ID:C5680306,,,,,juvenile-onset Steinert myotonic dystrophy,MONDO:0035648,,,,,, +BMGC_DS19134,BMG_DS073007,,UMLS ID:C5680307,,,,,childhood-onset Steinert myotonic dystrophy,MONDO:0035647,,,,,, +BMGC_DS19135,BMG_DS073008,,UMLS ID:C5680308,,,,,late-onset Steinert myotonic dystrophy,MONDO:0035650,,,,,, +BMGC_DS19136,BMG_DS073009,,UMLS ID:C5680309,,,,,adult-onset Steinert myotonic dystrophy,MONDO:0035649,,,,,, +BMGC_DS19137,BMG_DS073010,"Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome",UMLS ID:C5680310,"Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome",SNOMEDCT ID:1281843005,,,choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,MONDO:0035651,,,,,,OMIM ID:620186 +BMGC_DS19138,BMG_DS073011,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",UMLS ID:C5680313,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) | RHOA (ras homolog family member A) related mosaic ectodermal dysplasia | RHOA-related mosaic ectodermal dysplasia",SNOMEDCT ID:1208985003,,,"linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",MONDO:0035124,,,,,, +BMGC_DS19139,BMG_DS073012,,UMLS ID:C5680319,,,,,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),MONDO:0035940,,,B-lymphoblastic leukemia/lymphoma with BCR-ABL1,DOID:0080643,, +BMGC_DS19140,BMG_DS073013,,UMLS ID:C5680320,,,,,,,,,B-lymphoblastic leukemia/lymphoma with TCF3-PBX1,DOID:0080649,, +BMGC_DS19141,BMG_DS073015,Autosomal recessive isolated optic atrophy,UMLS ID:C5680331,Autosomal recessive isolated optic atrophy (disorder) | Autosomal recessive isolated optic atrophy | Autosomal recessive non-syndromic optic atrophy,SNOMEDCT ID:1197151003,,,,,,,,,, +BMGC_DS19142,BMG_DS073016,,UMLS ID:C5680338,,,,,neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency,MONDO:0035930,,,,,, +BMGC_DS19143,BMG_DS073019,,UMLS ID:C5680342,,,,,Angelman syndrome due to paternal uniparental disomy of chromosome 15,MONDO:0020303,,,,,, +BMGC_DS19144,BMG_DS073020,,UMLS ID:C5680343,,,,,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,MONDO:0020298,,,,,, +BMGC_DS19145,BMG_DS073021,"Cathepsin A-related arteriopathy, strokes, leukoencephalopathy",UMLS ID:C5680354,"Cathepsin A-related arteriopathy, strokes, leucoencephalopathy | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy | CARASAL - cathepsin A-related arteriopathy, strokes, leukoencephalopathy | Cathepsin A-related arteriopathy, strokes, leukoencephalopathy (disorder) | CARASAL - cathepsin A-related arteriopathy, strokes, leucoencephalopathy",SNOMEDCT ID:1197429000,,,cathepsin a-related arteriopathy-strokes-leukoencephalopathy,MONDO:0035551,,,,,, +BMGC_DS19146,BMG_DS073024,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency,UMLS ID:C5680361,Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency (disorder) | Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial janus kinase 1 deficiency,SNOMEDCT ID:1279842008,,,autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency,MONDO:0035548,,,,,, +BMGC_DS19147,BMG_DS073025,,UMLS ID:C5680363,,,,,blepharophimosis-ptosis-epicanthus inversus syndrome type 2,MONDO:0035525,,,,,, +BMGC_DS19148,BMG_DS073026,"Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia",UMLS ID:C5680364,"2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) | OAS1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia | 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia | Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia",SNOMEDCT ID:1197476009,,,infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,MONDO:0035529,,,,,, +BMGC_DS19149,BMG_DS073027,,UMLS ID:C5680365,,,,,blepharophimosis-ptosis-epicanthus inversus syndrome type 1,MONDO:0035524,,,,,, +BMGC_DS19150,BMG_DS073036,,UMLS ID:C5680385,,,,,lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,MONDO:0036218,,,,,, +BMGC_DS19151,BMG_DS073047,,UMLS ID:C5680398,,,,,non-syndromic non-specific multisutural craniosynostosis,MONDO:0850078,,,,,, +BMGC_DS19152,BMG_DS073061,,UMLS ID:C5680412,,,,,SBDS-related severe neonatal spondylometaphyseal dysplasia,MONDO:0850096,,,,,, +BMGC_DS19153,BMG_DS073062,,UMLS ID:C5680413,,,,,immune deficiency due to impaired neutrophil phagocytosis and migration,MONDO:0850067,,,,,, +BMGC_DS19154,BMG_DS073063,,UMLS ID:C5680414,,,,,SAMD9L-associated autoinflammatory syndrome,MONDO:0850066,,,,,, +BMGC_DS19155,BMG_DS073064,,UMLS ID:C5680415,,,,,familial hyperinflammatory lymphoproliferative immunodeficiency,MONDO:0850069,,,,,, +BMGC_DS19156,BMG_DS073065,,UMLS ID:C5680416,,,,,early-onset autoimmunity-autoinflammation-immunodeficiency syndrome,MONDO:0850068,,,,,, +BMGC_DS19157,BMG_DS073066,CADINS disease,UMLS ID:C5680417,Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) | Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome | CARD11-associated atopy with dominant interference of NF-kB signaling syndrome | CADINS disease,SNOMEDCT ID:1336113009,,,CADINS disease,MONDO:0850070,,,,,, +BMGC_DS19158,BMG_DS073068,Intermediate DEND syndrome,UMLS ID:C5680423,"Intermediate DEND syndrome | Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form (disorder) | Developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form | Intermediate DEND (developmental delay, epilepsy, neonatal diabetes) syndrome",SNOMEDCT ID:1303868000,,,intermediate DEND syndrome,MONDO:0020569,,,,,, +BMGC_DS19159,BMG_DS073072,Severe congenital nemaline myopathy,UMLS ID:C5680451,Severe congenital nemaline myopathy | Severe congenital nemaline myopathy (disorder),SNOMEDCT ID:1197157004,,,severe congenital nemaline myopathy,MONDO:0015735,,,,,, +BMGC_DS19160,BMG_DS073073,Intermediate nemaline myopathy,UMLS ID:C5680452,Intermediate nemaline myopathy | Intermediate nemaline myopathy (disorder),SNOMEDCT ID:1197156008,,,intermediate nemaline myopathy,MONDO:0015736,,,,,, +BMGC_DS19161,BMG_DS073074,Typical nemaline myopathy,UMLS ID:C5680453,Typical nemaline myopathy | Typical nemaline myopathy (disorder),SNOMEDCT ID:1197153000,,,typical nemaline myopathy,MONDO:0015737,,,,,, +BMGC_DS19162,BMG_DS073080,,UMLS ID:C5680502,,,,,autosomal dominant non-syndromic intellectual disability,MONDO:0015802,,,,,, +BMGC_DS19163,BMG_DS073082,,UMLS ID:C5680504,,,,,symptomatic form of hemophilia A in female carriers,MONDO:0015787,,,,,, +BMGC_DS19164,BMG_DS073083,,UMLS ID:C5680505,,,,,symptomatic form of hemophilia B in female carriers,MONDO:0015788,,,,,, +BMGC_DS19165,BMG_DS073084,,UMLS ID:C5680507,,,,,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,MONDO:0015783,,,,,, +BMGC_DS19166,BMG_DS073085,,UMLS ID:C5680508,,,,,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,MONDO:0015784,,,,,, +BMGC_DS19167,BMG_DS073086,,UMLS ID:C5680509,,,,,Prader-Willi syndrome due to translocation,MONDO:0015785,,,,,, +BMGC_DS19168,BMG_DS073087,,UMLS ID:C5680510,,,,,Prader-Willi syndrome due to imprinting mutation,MONDO:0015786,,,,,, +BMGC_DS19169,BMG_DS073088,,UMLS ID:C5680513,,,,,peripheral precocious puberty,MONDO:0015791,,,,,, +BMGC_DS19170,BMG_DS073093,,UMLS ID:C5680524,,,,,familial isolated hypoparathyroidism due to impaired PTH secretion,MONDO:0016000,,,,,, +BMGC_DS19171,BMG_DS073094,,UMLS ID:C5680525,,,,,syndromic intellectual disability,MONDO:0000508,,,,,, +BMGC_DS19172,BMG_DS073096,,UMLS ID:C5680544,,,,,inherited renal tubular disease,MONDO:0015962,,,,,, +BMGC_DS19173,BMG_DS073097,,UMLS ID:C5680568,,,,,inherited neurodegenerative disorder,MONDO:0024237,,,,,, +BMGC_DS19174,BMG_DS073111,,UMLS ID:C5680648,,,,,late infantile CACH syndrome,MONDO:0015520,,,,,, +BMGC_DS19175,BMG_DS073112,,UMLS ID:C5680649,,,,,juvenile or adult CACH syndrome,MONDO:0015521,,,,,, +BMGC_DS19176,BMG_DS073113,,UMLS ID:C5680650,,,,,congenital or early infantile CACH syndrome,MONDO:0015519,,,,,, +BMGC_DS19177,BMG_DS073120,,UMLS ID:C5680682,,,,,plaque-form urticaria pigmentosa,MONDO:0015555,,,,,, +BMGC_DS19178,BMG_DS073121,,UMLS ID:C5680683,,,,,typical urticaria pigmentosa,MONDO:0015554,,,,,, +BMGC_DS19179,BMG_DS073122,,UMLS ID:C5680684,,,,,nodular urticaria pigmentosa,MONDO:0015556,,,,,, +BMGC_DS19180,BMG_DS073125,De novo thrombotic microangiopathy following transplant of kidney,UMLS ID:C5680696,De novo thrombotic microangiopathy after kidney transplantation | De novo thrombotic microangiopathy following transplant of kidney (disorder) | De novo thrombotic microangiopathy following transplant of kidney | De novo thrombotic microangiopathy after renal transplant,SNOMEDCT ID:1264001009,,,,,,,,,, +BMGC_DS19181,BMG_DS073131,,UMLS ID:C5680720,,,,,maternal 14q32.2 hypermethylation syndrome,MONDO:0016783,,,,,, +BMGC_DS19182,BMG_DS073132,,UMLS ID:C5680721,,,,,paternal 14q32.2 hypomethylation syndrome,MONDO:0016782,,,,,, +BMGC_DS19183,BMG_DS073133,,UMLS ID:C5680724,,,,,Kleefstra syndrome due to a point mutation,MONDO:0016865,,,,,, +BMGC_DS19184,BMG_DS073138,Baraitser Winter cerebrofrontofacial syndrome,UMLS ID:C5680770,Baraitser Winter cerebrofrontofacial syndrome (disorder) | Baraitser Winter cerebrofrontofacial syndrome,SNOMEDCT ID:1258972007,,,,,,,,,, +BMGC_DS19185,BMG_DS073143,,UMLS ID:C5680778,,,,,isolated Dandy-Walker malformation without hydrocephalus,MONDO:0017111,,,,,, +BMGC_DS19186,BMG_DS073144,,UMLS ID:C5680779,,,,,isolated Dandy-Walker malformation with hydrocephalus,MONDO:0017110,,,,,, +BMGC_DS19187,BMG_DS073147,Autosomal semi-dominant severe lipodystrophic laminopathy,UMLS ID:C5680783,Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) | Autosomal semi-dominant severe lipodystrophic laminopathy,SNOMEDCT ID:1197747005,,,autosomal semi-dominant severe lipodystrophic laminopathy,MONDO:0017230,,,,,, +BMGC_DS19188,BMG_DS073149,Symptomatic form of Coffin-Lowry syndrome in female carrier,UMLS ID:C5680787,Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) | Symptomatic form of Coffin-Lowry syndrome in female carrier,SNOMEDCT ID:1237577000,,,symptomatic form of Coffin-Lowry syndrome in female carriers,MONDO:0017193,,,,,, +BMGC_DS19189,BMG_DS073152,,UMLS ID:C5680794,,,,,hereditary inclusion-body myopathy,MONDO:0016112,,,,,, +BMGC_DS19190,BMG_DS073156,,UMLS ID:C5680806,,,,,qualitative or quantitative defects of delta-sarcoglycan,MONDO:0016144,,,,,, +BMGC_DS19191,BMG_DS073158,,UMLS ID:C5680808,,,,,qualitative or quantitative defects of alpha-sarcoglycan,MONDO:0016141,,,,,, +BMGC_DS19192,BMG_DS073165,,UMLS ID:C5680831,,,,,qualitative or quantitative defects of perlecan,MONDO:0016151,,,,,, +BMGC_DS19193,BMG_DS073166,,UMLS ID:C5680832,,,,,qualitative or quantitative defects of beta-myosin heavy chain (MYH7),MONDO:0016195,,,,,, +BMGC_DS19194,BMG_DS073168,,UMLS ID:C5680835,,,,,qualitative or quantitative defects of plectin,MONDO:0016198,,,,,, +BMGC_DS19195,BMG_DS073183,,UMLS ID:C5680866,,,,,"Niemann-Pick disease type C, severe perinatal form",MONDO:0016306,,,,,, +BMGC_DS19196,BMG_DS073184,,UMLS ID:C5680867,,,,,"Niemann-Pick disease type C, late infantile neurologic onset",MONDO:0016308,,,,,, +BMGC_DS19197,BMG_DS073185,,UMLS ID:C5680868,,,,,"Niemann-Pick disease type C, severe early infantile neurologic onset",MONDO:0016307,,,,,, +BMGC_DS19198,BMG_DS073186,,UMLS ID:C5680869,,,,,"Niemann-Pick disease type C, adult neurologic onset",MONDO:0016310,,,,,, +BMGC_DS19199,BMG_DS073196,,UMLS ID:C5680916,,,,,silver-Russell syndrome due to an imprinting defect of 11p15,MONDO:0016480,,,,,, +BMGC_DS19200,BMG_DS073197,,UMLS ID:C5680917,,,,,silver-Russell syndrome due to 11p15 microduplication,MONDO:0016481,,,,,, +BMGC_DS19201,BMG_DS073198,,UMLS ID:C5680918,,,,,Beckwith-Wiedemann syndrome due to CDKN1C mutation,MONDO:0016476,,,,,, +BMGC_DS19202,BMG_DS073201,,UMLS ID:C5680922,,,,,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,MONDO:0016475,,,,,, +BMGC_DS19203,BMG_DS073205,,UMLS ID:C5680933,,,,,Beckwith-Wiedemann syndrome due to NSD1 mutation,MONDO:0016547,,,,,, +BMGC_DS19204,BMG_DS073210,,UMLS ID:C5680948,,,,,non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,MONDO:0017973,,,,,, +BMGC_DS19205,BMG_DS073214,,UMLS ID:C5680967,,,,,null pituitary adenoma,MONDO:0017826,,,,,, +BMGC_DS19206,BMG_DS073216,,UMLS ID:C5680974,,,,,Koolen-de Vries syndrome due to a point mutation,MONDO:0018217,,,,,, +BMGC_DS19207,BMG_DS073217,,UMLS ID:C5680977,,,,,TRPV4-related bone disorder,MONDO:0018240,,,,,, +BMGC_DS19208,BMG_DS073218,,UMLS ID:C5680987,,,,,non-hereditary retinoblastoma,MONDO:0018161,,,,,, +BMGC_DS19209,BMG_DS073227,,UMLS ID:C5681013,,,,,"glycerol kinase deficiency, adult form",MONDO:0017296,,,,,, +BMGC_DS19210,BMG_DS073231,,UMLS ID:C5681029,,,,,"glycerol kinase deficiency, juvenile form",MONDO:0017295,,,,,, +BMGC_DS19211,BMG_DS073248,,UMLS ID:C5681074,,,,,inborn aminoacylase deficiency,MONDO:0017686,,,,,, +BMGC_DS19212,BMG_DS073250,,UMLS ID:C5681076,,,,,intermediate severe Salla disease,MONDO:0017737,,,,,, +BMGC_DS19213,BMG_DS073253,,UMLS ID:C5681089,,,,,"congenital vertical talus, unilateral",MONDO:0017546,,,,,, +BMGC_DS19214,BMG_DS073258,Fever-associated acute infantile liver failure syndrome,UMLS ID:C5681094,Fever-associated acute infantile liver failure syndrome (disorder) | Fever-associated acute infantile liver failure syndrome,SNOMEDCT ID:1208726006,,,infantile liver failure,MONDO:0000023,,,,,, +BMGC_DS19215,BMG_DS073259,,UMLS ID:C5681095,,,,,familial gastric type 1 neuroendocrine tumor,MONDO:0018742,,,,,, +BMGC_DS19216,BMG_DS073265,Symptomatic form of fragile X syndrome in female carrier,UMLS ID:C5681104,Symptomatic form of fragile X syndrome in female carrier (disorder) | Symptomatic form of fragile X syndrome in female carrier,SNOMEDCT ID:1237344003,,,symptomatic form of fragile X syndrome in female carrier,MONDO:0018670,,,,,, +BMGC_DS19217,BMG_DS073267,Isolated focal non-epidermolytic palmoplantar keratoderma,UMLS ID:C5681107,Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) | Isolated focal non-epidermolytic palmoplantar keratoderma,SNOMEDCT ID:1260463008,,,,,,,,,, +BMGC_DS19218,BMG_DS073268,"Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome",UMLS ID:C5681108,"Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome",SNOMEDCT ID:1230005002,,,pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,MONDO:0018657,,,,,,OMIM ID:618373 +BMGC_DS19219,BMG_DS073269,"X-linked intellectual disability, hypotonia, movement disorder syndrome",UMLS ID:C5681121,"X-linked intellectual disability, hypotonia, movement disorder syndrome | X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder)",SNOMEDCT ID:1254654006,,,X-linked intellectual disability-hypotonia-movement disorder syndrome,MONDO:0018709,,,,,, +BMGC_DS19220,BMG_DS073270,"X-linked intellectual disability, short stature, overweight syndrome",UMLS ID:C5681122,"X-linked intellectual disability, short stature, overweight syndrome | X-linked intellectual disability, short stature, overweight syndrome (disorder)",SNOMEDCT ID:1255335006,,,,,,,,,, +BMGC_DS19221,BMG_DS073271,"Megalencephaly, severe kyphoscoliosis, overgrowth syndrome",UMLS ID:C5681123,"Megalencephaly, severe kyphoscoliosis, overgrowth syndrome | Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)",SNOMEDCT ID:1260143005,,,megalencephaly-severe kyphoscoliosis-overgrowth syndrome,MONDO:0018710,,,,,, +BMGC_DS19222,BMG_DS073274,,UMLS ID:C5681129,,,,,DeSanto-Shinawi syndrome due to WAC point mutation,MONDO:0014741,,,,,,OMIM ID:616708 +BMGC_DS19223,BMG_DS073278,,UMLS ID:C5681146,,,,,Angelman syndrome due to a point mutation,MONDO:0018461,,,,,, +BMGC_DS19224,BMG_DS073280,"Short stature, advanced bone age, early-onset osteoarthritis syndrome",UMLS ID:C5681177,"Short stature, advanced bone age, early-onset osteoarthritis syndrome | Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder)",SNOMEDCT ID:1197586007,,,short stature-advanced bone age-early-onset osteoarthritis syndrome,MONDO:0018566,,,,,, +BMGC_DS19225,BMG_DS073281,"X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome",UMLS ID:C5681178,"X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) | X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome",SNOMEDCT ID:1197588008,,,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,MONDO:0018569,,,,,, +BMGC_DS19226,BMG_DS073282,"Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome",UMLS ID:C5681179,"Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) | Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome",SNOMEDCT ID:1197591008,,,severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,MONDO:0018572,,,,,, +BMGC_DS19227,BMG_DS073283,"Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome",UMLS ID:C5681180,"Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome (disorder)",SNOMEDCT ID:1197592001,,,intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,MONDO:0018573,,,,,, +BMGC_DS19228,BMG_DS073284,"Microcephalic primordial dwarfism, insulin resistance syndrome",UMLS ID:C5681181,"Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) | Microcephalic primordial dwarfism, insulin resistance syndrome",SNOMEDCT ID:1220596009,,,,,,,,,, +BMGC_DS19229,BMG_DS073285,"Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease",UMLS ID:C5681182,"Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease | Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease (disorder)",SNOMEDCT ID:1197418004,,,,,,,,,, +BMGC_DS19230,BMG_DS073286,PDE4D haploinsufficiency syndrome,UMLS ID:C5681186,PDE4D haploinsufficiency syndrome | Phosphodiesterase 4D haploinsufficiency syndrome (disorder) | Phosphodiesterase 4D haploinsufficiency syndrome,SNOMEDCT ID:1236843008,,,,,,,,,, +BMGC_DS19231,BMG_DS073289,,UMLS ID:C5681190,,,,,early-onset posterior subcapsular cataract,MONDO:0018610,,,,,, +BMGC_DS19232,BMG_DS073290,,UMLS ID:C5681191,,,,,early-onset lamellar cataract,MONDO:0018611,,,,,, +BMGC_DS19233,BMG_DS073293,"Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome",UMLS ID:C5681197,"Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)",SNOMEDCT ID:1237470001,,,,,,,,,, +BMGC_DS19234,BMG_DS073295,,UMLS ID:C5681199,,,,,susceptibility to localized juvenile periodontitis,MONDO:0018643,,,,,, +BMGC_DS19235,BMG_DS073297,,UMLS ID:C5681201,,,,,hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,MONDO:0018655,,,,,, +BMGC_DS19236,BMG_DS073302,Short rib polydactyly syndrome type 5,UMLS ID:C5681240,Short rib polydactyly syndrome type 5 | Short rib polydactyly syndrome type V (disorder) | Short rib polydactyly syndrome type V,SNOMEDCT ID:1279843003,,,,,,,,,, +BMGC_DS19237,BMG_DS073303,EMILIN-1-related connective tissue disease,UMLS ID:C5681244,Elastin microfibril interfacer 1 related connective tissue disease | EMILIN-1-related connective tissue disease | Elastin microfibril interfacer 1 related connective tissue disease (disorder),SNOMEDCT ID:1237511005,,,EMILIN-1-related connective tissue disease,MONDO:0044622,,,,,, +BMGC_DS19238,BMG_DS073304,,UMLS ID:C5681246,,,,,acquired schizencephaly,MONDO:0018839,,,,,, +BMGC_DS19239,BMG_DS073305,Isolated neonatal sclerosing cholangitis,UMLS ID:C5681248,Isolated neonatal sclerosing cholangitis (disorder) | Isolated neonatal sclerosing cholangitis,SNOMEDCT ID:1220580006,,,,,,,,,, +BMGC_DS19240,BMG_DS073307,,UMLS ID:C5681257,,,,,syndromic constitutional thrombocytopenia,MONDO:0018795,,,,,, +BMGC_DS19241,BMG_DS073309,"Primary hypomagnesemia, refractory seizures, intellectual disability syndrome",UMLS ID:C5681271,"Primary hypomagnesemia, refractory seizures, intellectual disability syndrome | Primary hypomagnesemia, refractory seizures, intellectual disability syndrome (disorder) | Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome",SNOMEDCT ID:1269236003,,,,,,,,,, +BMGC_DS19242,BMG_DS073327,,UMLS ID:C5681306,,,,,muscular channelopathy,MONDO:0019119,,,,,, +BMGC_DS19243,BMG_DS073328,,UMLS ID:C5681310,,,,,multiple congenital anomalies/dysmorphic syndrome,MONDO:0019042,,,,,, +BMGC_DS19244,BMG_DS073331,Pustular pyoderma gangrenosum,UMLS ID:C5681317,Pustular pyoderma gangrenosum (disorder) | Pustular pyoderma gangrenosum,SNOMEDCT ID:1256081007,,,pustular pyoderma gangrenosum,MONDO:0035236,,,,,, +BMGC_DS19245,BMG_DS073333,"Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome",UMLS ID:C5681321,"Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) | Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome",SNOMEDCT ID:1222655009,,,optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,MONDO:0034092,,,,,, +BMGC_DS19246,BMG_DS073334,"Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome",UMLS ID:C5681324,"Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) | Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome",SNOMEDCT ID:1269271003,,,atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,MONDO:0034110,,,,,, +BMGC_DS19247,BMG_DS073337,,UMLS ID:C5681331,,,,,inherited aplastic anemia,MONDO:0001713,,,,,, +BMGC_DS19248,BMG_DS073338,"Early-onset calcifying leukoencephalopathy, skeletal dysplasia",UMLS ID:C5681333,"Early-onset calcifying leucoencephalopathy, skeletal dysplasia | Early-onset calcifying leukoencephalopathy, skeletal dysplasia | Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)",SNOMEDCT ID:1222661007,,,early-onset calcifying leukoencephalopathy-skeletal dysplasia,MONDO:0034143,,,,,, +BMGC_DS19249,BMG_DS073339,"Pancreatic agenesis, holoprosencephaly syndrome",UMLS ID:C5681334,"Pancreatic agenesis, holoprosencephaly syndrome | Pancreatic agenesis, holoprosencephaly syndrome (disorder)",SNOMEDCT ID:1222660008,,,pancreatic agenesis-holoprosencephaly syndrome,MONDO:0034142,,,,,, +BMGC_DS19250,BMG_DS073340,"Spastic ataxia, dysarthria due to glutaminase deficiency",UMLS ID:C5681336,"Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) | Spastic ataxia, dysarthria due to glutaminase deficiency",SNOMEDCT ID:1255323007,,,spastic ataxia-dysarthria due to glutaminase deficiency,MONDO:0034146,,,,,, +BMGC_DS19251,BMG_DS073347,,UMLS ID:C5681365,,,,,non-syndromic syndactyly,MONDO:0019530,,,,,, +BMGC_DS19252,BMG_DS073348,,UMLS ID:C5681367,,,,,isolated macular dystrophy,MONDO:0957048,,,,,, +BMGC_DS19253,BMG_DS073354,LAMA5-related multisystemic syndrome,UMLS ID:C5681442,LAMA5-related multisystemic syndrome | Laminin subunit alpha 5-related multisystemic syndrome | Laminin subunit alpha 5-related multisystemic syndrome (disorder),SNOMEDCT ID:1217370006,,,LAMA5-related multisystemic syndrome,MONDO:0033856,,,,,, +BMGC_DS19254,BMG_DS073355,"Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome",UMLS ID:C5681443,"Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) | Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome",SNOMEDCT ID:1279889005,,,microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,MONDO:0035027,,,,,, +BMGC_DS19255,BMG_DS073356,"Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome",UMLS ID:C5681444,"Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome | Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)",SNOMEDCT ID:1260140008,,,congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,MONDO:0033853,,,,,, +BMGC_DS19256,BMG_DS073358,"Diaphragmatic hernia, short bowel, asplenia syndrome",UMLS ID:C5681454,"Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) | Diaphragmatic hernia, short bowel, asplenia syndrome",SNOMEDCT ID:1217373008,,,diaphragmatic hernia-short bowel-asplenia syndrome,MONDO:0035105,,,,,, +BMGC_DS19257,BMG_DS073361,Encephalopathy due to mitochondrial and peroxisomal fission defect,UMLS ID:C5681458,Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) | Encephalopathy due to mitochondrial and peroxisomal fission defect,SNOMEDCT ID:1236807002,,,encephalopathy due to mitochondrial and peroxisomal fission defect,MONDO:0054865,,,,,, +BMGC_DS19258,BMG_DS073366,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",UMLS ID:C5681470,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency",SNOMEDCT ID:1231281009,,,,,,,,,, +BMGC_DS19259,BMG_DS073367,,UMLS ID:C5681477,,,,,inherited isolated nail anomaly,MONDO:0019284,,,,,, +BMGC_DS19260,BMG_DS073379,,UMLS ID:C5681523,,,,,infantile epilepsy syndrome,MONDO:0020071,,,,,, +BMGC_DS19261,BMG_DS073382,,UMLS ID:C5681526,,,,,childhood-onset epilepsy syndrome,MONDO:0020072,,,,,, +BMGC_DS19262,BMG_DS073383,"CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome",UMLS ID:C5681527,"Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome | Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder)",SNOMEDCT ID:1332384001,,,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,MONDO:0035775,,,,,, +BMGC_DS19263,BMG_DS073384,"NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance",UMLS ID:C5681528,"Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) | NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance | NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance",SNOMEDCT ID:1300131002,,,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,MONDO:0035774,,,,,, +BMGC_DS19264,BMG_DS073387,,UMLS ID:C5681536,,,,,renal tubular dysgenesis of genetic origin,MONDO:0009970,,,,,,OMIM ID:267430 +BMGC_DS19265,BMG_DS073398,"IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome",UMLS ID:C5681583,"Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome | Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)",SNOMEDCT ID:1303273003,,,,,,,,,, +BMGC_DS19266,BMG_DS073400,"SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome",UMLS ID:C5681587,"SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) | SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome | SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome",SNOMEDCT ID:1300119004,,,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,MONDO:0035706,,,,,, +BMGC_DS19267,BMG_DS073402,,UMLS ID:C5681589,,,,,FOXG1 syndrome due to intragenic alteration,MONDO:0035713,,,,,, +BMGC_DS19268,BMG_DS073403,,UMLS ID:C5681598,,,,,juvenile sialidosis type 2,MONDO:0019681,,,,,, +BMGC_DS19269,BMG_DS073404,,UMLS ID:C5681599,,,,,congenital sialidosis type 2,MONDO:0019682,,,,,, +BMGC_DS19270,BMG_DS073405,,UMLS ID:C5681601,,,,,hereditary angioedema with normal C1inh not related to F12 or PLG variant,MONDO:0035734,,,,,, +BMGC_DS19271,BMG_DS073406,,UMLS ID:C5681604,,,,,FGFR3-related chondrodysplasia,MONDO:0019685,,,,,, +BMGC_DS19272,BMG_DS073408,,UMLS ID:C5681613,,,,,"X-linked intellectual disability, Sutherland-Haan type",MONDO:0019769,,,,,, +BMGC_DS19273,BMG_DS073409,,UMLS ID:C5681614,,,,,"X-linked intellectual disability, Golabi-Ito-hall type",MONDO:0019768,,,,,, +BMGC_DS19274,BMG_DS073410,,UMLS ID:C5681615,,,,,hamel cerebro-palato-cardiac syndrome,MONDO:0019767,,,,,, +BMGC_DS19275,BMG_DS073411,,UMLS ID:C5681616,,,,,"X-linked intellectual disability, Porteous type",MONDO:0019766,,,,,, +BMGC_DS19276,BMG_DS073412,,UMLS ID:C5681620,,,,,late-onset nephronophthisis,MONDO:0019742,,,,,, +BMGC_DS19277,BMG_DS073416,Menke Hennekam syndrome,UMLS ID:C5681632,Menke Hennekam syndrome | Menke Hennekam syndrome (disorder),SNOMEDCT ID:1260095004,,,Menke-Hennekam syndrome,MONDO:0020774,,,,,, +BMGC_DS19278,BMG_DS073417,"TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome",UMLS ID:C5681633,"Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | Tumour necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder)",SNOMEDCT ID:1208998007,,,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,MONDO:0035661,,,,,, +BMGC_DS19279,BMG_DS073419,"GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder",UMLS ID:C5681638,"GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder) | Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder",SNOMEDCT ID:1260195002,,,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",MONDO:0035122,,,,,, +BMGC_DS19280,BMG_DS073423,,UMLS ID:C5681644,,,,,early-onset nuclear cataract,MONDO:0020376,,,,,, +BMGC_DS19281,BMG_DS073428,,UMLS ID:C5681679,,,,,Noonan syndrome and Noonan-related syndrome,MONDO:0020297,,,,,, +BMGC_DS19282,BMG_DS073442,,UMLS ID:C5681733,,,,,hereditary peripheral neuropathy,MONDO:0020127,,,,,, +BMGC_DS19283,BMG_DS073443,,UMLS ID:C5681739,,,,,myopathic intestinal pseudoobstruction,MONDO:0015191,,,,,, +BMGC_DS19284,BMG_DS073448,,UMLS ID:C5681803,,,,,familial hypofibrinogenemia,MONDO:0015096,,,,,, +BMGC_DS19285,BMG_DS073456,,UMLS ID:C5681819,,,,,lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,MONDO:0036217,,,,,, +BMGC_DS19286,BMG_DS073459,,UMLS ID:C5681825,,,,,EGF-related primary hypomagnesemia with intellectual disability,MONDO:0850088,,,,,, +BMGC_DS19287,BMG_DS073460,,UMLS ID:C5681826,,,,,primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,MONDO:0850087,,,,,, +BMGC_DS19288,BMG_DS073461,,UMLS ID:C5681829,,,,,F12-associated cold autoinflammatory syndrome,MONDO:0850053,,,,,, +BMGC_DS19289,BMG_DS073462,"Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome",UMLS ID:C5681830,"Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome | Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder) | Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome",SNOMEDCT ID:1340174002,,,developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,MONDO:0850071,,,,,, +BMGC_DS19290,BMG_DS073464,,UMLS ID:C5681834,,,,,Angelman syndrome due to imprinting defect in 15q11-q13,MONDO:0018462,,,,,, +BMGC_DS19291,BMG_DS073465,,UMLS ID:C5681844,,,,,inborn disorder of cobalamin metabolism and transport,MONDO:0019220,,,,,, +BMGC_DS19292,BMG_DS073467,CELSR1-related late-onset primary lymphedema,UMLS ID:C5681848,Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema | Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphoedema | CELSR1-related late-onset primary lymphedema | CELSR1-related late-onset primary lymphoedema,SNOMEDCT ID:1222668001,,,CELSR1-related late-onset primary lymphedema,MONDO:0035499,,,,,, +BMGC_DS19293,BMG_DS073530,Autosomal recessive amyotrophic lateral sclerosis type 1,UMLS ID:C5686324,Autosomal recessive amyotrophic lateral sclerosis type 1 | Autosomal recessive amyotrophic lateral sclerosis type 1 (disorder) | ALS1 AR - amyotrophic lateral sclerosis type 1 autosomal recessive | Autosomal recessive ALS (amyotrophic lateral sclerosis) type 1,SNOMEDCT ID:1197524007,,,,,,,,,, +BMGC_DS19294,BMG_DS073876,"X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome",UMLS ID:C5687848,"X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome | X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)",SNOMEDCT ID:1217228004,,,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,MONDO:0018724,,,,,, +BMGC_DS19295,BMG_DS073916,Chronic antibiotic-refractory pouchitis,UMLS ID:C5688196,Chronic antibiotic-refractory ileal pouchitis (disorder) | Chronic antibiotic-refractory ileal pouchitis | CARP - chronic antibiotic-refractory pouchitis | Chronic antibiotic-refractory pouchitis,SNOMEDCT ID:1217704000,,,,,,,,,, +BMGC_DS19296,BMG_DS073917,Familial chilblain lupus erythematosus,UMLS ID:C5688224,Familial chilblain lupus erythematosus (disorder) | Familial chilblain lupus erythematosus,SNOMEDCT ID:1220590003,,,familial chilblain lupus,MONDO:0018827,,,,,, +BMGC_DS19297,BMG_DS073918,Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy,UMLS ID:C5688227,Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) | Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy | Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy,SNOMEDCT ID:1220598005,,,non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,MONDO:0018576,,,,,, +BMGC_DS19298,BMG_DS073963,Lethal brain and heart developmental defects syndrome,UMLS ID:C5688452,Lethal brain and heart developmental defects syndrome (disorder) | Lethal brain and heart developmental defects syndrome,SNOMEDCT ID:1229876001,,,,,,,,,, +BMGC_DS19299,BMG_DS074056,Chronic Kidney Diseases of Uncertain Etiology,UMLS ID:C5690757,,,,,,,Chronic Kidney Diseases of Uncertain Etiology,MeSH ID:D000092702,,,, +BMGC_DS19300,BMG_DS074061,Perinatal Cytomegalovirus Infection,UMLS ID:C5690863,,,,,,,Cytomegalovirus Infections,MeSH ID:D003586,,,, +BMGC_DS19301,BMG_DS074062,Childhood Idiopathic Nephrotic Syndrome,UMLS ID:C5690874,,,,,,,Nephrotic Syndrome,MeSH ID:D009404,,,, +BMGC_DS19302,BMG_DS074063,Complement 3 Glomerulopathies,UMLS ID:C5690882,,,,,,,"Glomerulonephritis, Membranoproliferative",MeSH ID:D015432,,,, +BMGC_DS19303,BMG_DS074087,Varicose Bronchiectasis,UMLS ID:C5691384,,,,,,,Bronchiectasis,MeSH ID:D001987,,,, +BMGC_DS19304,BMG_DS074088,Major Adverse Cardiac Events,UMLS ID:C5691385,,,,,,,Cardiovascular Diseases,MeSH ID:D002318,,,, +BMGC_DS19305,BMG_DS074091,Dental Enamel Erosion,UMLS ID:C5691421,,,,,,,Tooth Erosion,MeSH ID:D014077,,,, +BMGC_DS19306,BMG_DS074094,"cardiomyopathy, dilated, 1b",UMLS ID:C5700078,,,,,dilated cardiomyopathy 1B,MONDO:0010951,,MeSH ID:C536231,,,,OMIM ID:600884 +BMGC_DS19307,BMG_DS074096,Acid Maltase Deficiency,UMLS ID:C5700101,,,,,,,Glycogen Storage Disease Type II,MeSH ID:D006009,,,, +BMGC_DS19308,BMG_DS074097,Localized non-Herlitz junctional epidermolysis bullosa,UMLS ID:C5700116,Localised non-Herlitz junctional epidermolysis bullosa | Localized junctional epidermolysis bullosa non-Herlitz type (disorder) | Localized non-Herlitz junctional epidermolysis bullosa | Localised junctional epidermolysis bullosa non-Herlitz type | Localized junctional epidermolysis bullosa non-Herlitz type,SNOMEDCT ID:1254890002,,,"localized junctional epidermolysis bullosa, non-Herlitz type",MONDO:0016673,,,,,, +BMGC_DS19309,BMG_DS074098,Autosomal recessive axonal neuropathy with neuromyotonia,UMLS ID:C5700127,"Autosomal recessive axonal neuropathy with neuromyotonia | Autosomal recessive neuromyotonia with axonal neuropathy | Autosomal recessive axonal neuropathy with neuromyotonia (disorder) | Myokymia, myotonia and muscle wasting | Gamstorp-Wohlfart syndrome",SNOMEDCT ID:711406009,,,Gamstorp-Wohlfart syndrome,MONDO:0007646,,,,,,OMIM ID:137200 +BMGC_DS19310,BMG_DS074103,"Short stature, developmental delay, congenital heart defect syndrome",UMLS ID:C5700245,"Short stature, developmental delay, congenital heart defect syndrome | Short stature, developmental delay, congenital heart defect syndrome (disorder) | TKT (transketolase) deficiency",SNOMEDCT ID:1237512003,,,transketolase deficiency,MONDO:0014881,,,,,,OMIM ID:617044 +BMGC_DS19311,BMG_DS074107,"Segawa syndrome, autosomal recessive",UMLS ID:C5700309,,,,,tyrosine hydroxylase deficiency,MONDO:0100064,,MeSH ID:C537537,,,, +BMGC_DS19312,BMG_DS074108,"MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1",UMLS ID:C5700310,,,,,"mitochondrial complex II deficiency, nuclear type 1",MONDO:0100294,,,,,,OMIM ID:252011 | OMIM ID:600857 +BMGC_DS19313,BMG_DS074110,"PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET",UMLS ID:C5700336,,,,,classic dopamine transporter deficiency syndrome,MONDO:0054835,,,,,,OMIM ID:613135 +BMGC_DS19314,BMG_DS074112,Carnosinase Deficiency,UMLS ID:C5700357,,,,,,,,MeSH ID:C535328,homocarnosinosis,DOID:0060177,, +BMGC_DS19315,BMG_DS074113,Exercise-induced malignant hyperthermia,UMLS ID:C5700399,Exercise-induced malignant hyperthermia (disorder) | Exercise-induced malignant hyperthermia,SNOMEDCT ID:1237338002,,,exercise-induced malignant hyperthermia,MONDO:0018752,,,,,, +BMGC_DS19316,BMG_DS074116,"Platyspondylic Lethal Skeletal Dysplasia, Luton Type",UMLS ID:C5703068,,,,,,,,MeSH ID:C563627,,,, +BMGC_DS19317,BMG_DS074117,,UMLS ID:C5703292,,,,,"iron overload, susceptibility to",MONDO:0859316,,,,,,OMIM ID:620121 +BMGC_DS19318,BMG_DS074118,Hereditary von Willebrand disease,UMLS ID:C5703318,Hereditary von Willebrand disease | Hereditary von Willebrand disease (disorder),SNOMEDCT ID:1259242002,,,hereditary von Willebrand disease,MONDO:0019565,,,,,, +BMGC_DS19319,BMG_DS074121,NSAID-Exacerbated Respiratory Disease,UMLS ID:C5704570,,,,,,,"Asthma, Aspirin-Induced",MeSH ID:D055963,,,, +BMGC_DS19320,BMG_DS074407,Generalized inflammatory peeling skin syndrome,UMLS ID:C5768235,Generalized inflammatory peeling skin syndrome | Generalised inflammatory peeling skin syndrome | Generalized inflammatory peeling skin syndrome (disorder),SNOMEDCT ID:1240462005,,,,,,,peeling skin syndrome 1,DOID:0070520,, +BMGC_DS19321,BMG_DS074640,CARDIAC VALVULAR DYSPLASIA 1,UMLS ID:C5774175,,,,,"cardiac valvular defect, developmental",MONDO:0008913,,,developmental cardiac valvular defect,DOID:0080633,,OMIM ID:212093 | OMIM ID:602382 +BMGC_DS19322,BMG_DS074641,"PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE",UMLS ID:C5774176,,,,,"pseudohypoaldosteronism, type IB1, autosomal recessive",MONDO:0009917,,,,,,OMIM ID:264350 | OMIM ID:600228 +BMGC_DS19323,BMG_DS074642,"EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS",UMLS ID:C5774177,,,,,"epilepsy, X-linked 1, with variable learning disabilities and behavior disorders",MONDO:0010339,,,,,,OMIM ID:300491 | OMIM ID:313440 +BMGC_DS19324,BMG_DS074643,"EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES",UMLS ID:C5774178,,,,,"epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features",MONDO:0859564,,,,,,OMIM ID:305660 | OMIM ID:301091 +BMGC_DS19325,BMG_DS074644,HIJAZI-REIS SYNDROME,UMLS ID:C5774179,,,,,"neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked",MONDO:0859085,,,,,,OMIM ID:301094 | OMIM ID:300237 +BMGC_DS19326,BMG_DS074645,,UMLS ID:C5774180,,,,,"intellectual developmental disorder, X-linked 110",MONDO:0859086,,,,,,OMIM ID:301095 +BMGC_DS19327,BMG_DS074646,"MICROPHTHALMIA, SYNDROMIC 16",UMLS ID:C5774181,,,,,isolated microphthalmia 3,MONDO:0012604,,,,,,OMIM ID:601881 | OMIM ID:611038 +BMGC_DS19328,BMG_DS074647,"SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE",UMLS ID:C5774182,,,,,"spastic paraplegia 87, autosomal recessive",MONDO:0031019,,,hereditary spastic paraplegia 87,DOID:0070456,,OMIM ID:619953 | OMIM ID:619966 +BMGC_DS19329,BMG_DS074648,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104,UMLS ID:C5774183,,,,,developmental and epileptic encephalopathy 104,MONDO:0031021,,,developmental and epileptic encephalopathy 104,DOID:0070390,,OMIM ID:192130 | OMIM ID:619970 +BMGC_DS19330,BMG_DS074649,NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY,UMLS ID:C5774184,,,,,neurodevelopmental disorder with epilepsy and brain atrophy,MONDO:0859265,,,,,,OMIM ID:619971 | OMIM ID:192130 +BMGC_DS19331,BMG_DS074650,"NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY",UMLS ID:C5774185,,,,,"neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy",MONDO:0859266,,,,,,OMIM ID:609514 | OMIM ID:619972 +BMGC_DS19332,BMG_DS074651,TUMOR PREDISPOSITION SYNDROME 2,UMLS ID:C5774186,,,,,tumor predisposition syndrome 2,MONDO:0859267,,,,,,OMIM ID:603574 | OMIM ID:619975 +BMGC_DS19333,BMG_DS074652,"MACULAR DYSTROPHY, RETINAL, 4",UMLS ID:C5774187,,,,,"macular dystrophy, retinal, 4",MONDO:0859568,,,retinal macular dystrophy 4,DOID:0070441,,OMIM ID:187520 | OMIM ID:619977 +BMGC_DS19334,BMG_DS074653,BRADDOCK-CAREY SYNDROME 1,UMLS ID:C5774188,,,,,Braddock-Carey syndrome 1,MONDO:0859569,,,,,,OMIM ID:619980 +BMGC_DS19335,BMG_DS074654,BRADDOCK-CAREY SYNDROME 2,UMLS ID:C5774189,,,,,braddock-carey syndrome 2,MONDO:0859570,,,,,,OMIM ID:619981 | OMIM ID:617569 +BMGC_DS19336,BMG_DS074655,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM,UMLS ID:C5774190,,,,,developmental and epileptic encephalopathy 105 with hypopituitarism,MONDO:0031028,,,developmental and epileptic encephalopathy 105,DOID:0070391,,OMIM ID:605752 | OMIM ID:619983 +BMGC_DS19337,BMG_DS074656,GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25,UMLS ID:C5774191,,,,,glycosylphosphatidylinositol biosynthesis defect 25,MONDO:0859271,,,,,,OMIM ID:619979 | OMIM ID:619985 +BMGC_DS19338,BMG_DS074657,"IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION",UMLS ID:C5774192,,,,,"immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection",MONDO:0031030,,,,,,OMIM ID:615712 | OMIM ID:619986 +BMGC_DS19339,BMG_DS074658,,UMLS ID:C5774193,,,,,"intellectual developmental disorder, autosomal recessive 77",MONDO:0031031,,,,,,OMIM ID:619988 +BMGC_DS19340,BMG_DS074659,NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES,UMLS ID:C5774194,,,,,neurodevelopmental disorder with speech delay and variable ocular anomalies,MONDO:0859272,,,,,,OMIM ID:619989 | OMIM ID:616662 +BMGC_DS19341,BMG_DS074660,"LIVER DISEASE, SEVERE CONGENITAL",UMLS ID:C5774195,,,,,"liver disease, severe congenital",MONDO:0859273,,,,,,OMIM ID:614606 | OMIM ID:619991 +BMGC_DS19342,BMG_DS074661,"NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES",UMLS ID:C5774196,,,,,"neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies",MONDO:0859274,,,,,,OMIM ID:613176 | OMIM ID:619995 +BMGC_DS19343,BMG_DS074662,"NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES",UMLS ID:C5774197,,,,,"neurodevelopmental disorder with spasticity, seizures, and brain abnormalities",MONDO:0859275,,,,,,OMIM ID:616173 | OMIM ID:620001 +BMGC_DS19344,BMG_DS074663,PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME,UMLS ID:C5774198,,,,,primordial dwarfism-immunodeficiency-lipodystrophy syndrome,MONDO:0859276,,,,,,OMIM ID:176635 | OMIM ID:620005 +BMGC_DS19345,BMG_DS074664,INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS,UMLS ID:C5774199,,,,,intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects,MONDO:0859277,,,,,,OMIM ID:620007 | OMIM ID:608302 +BMGC_DS19346,BMG_DS074665,"KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE",UMLS ID:C5774200,,,,,"keratoderma-ichthyosis-deafness syndrome, autosomal recessive",MONDO:0859278,,,,,,OMIM ID:608552 | OMIM ID:620009 +BMGC_DS19347,BMG_DS074666,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6",UMLS ID:C5774201,,,,,"spinal muscular atrophy, distal, autosomal recessive, 6",MONDO:0859279,,,autosomal recessive distal hereditary motor neuronopathy 6,DOID:0081425,,OMIM ID:609139 | OMIM ID:620011 +BMGC_DS19348,BMG_DS074667,"DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE",UMLS ID:C5774202,,,,,"developmental delay, hypotonia, and impaired language",MONDO:0859280,,,"developmental delay, hypotonia, and impaired language",DOID:0070420,,OMIM ID:620012 | OMIM ID:606278 +BMGC_DS19349,BMG_DS074668,LYMPHATIC MALFORMATION 12,UMLS ID:C5774203,,,,,lymphatic malformation 12,MONDO:0031043,,,,,,OMIM ID:620014 | OMIM ID:614511 +BMGC_DS19350,BMG_DS074669,"ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4",UMLS ID:C5774204,,,,,"advance sleep phase syndrome, familial, 4",MONDO:0031044,,,advanced sleep phase syndrome 4,DOID:0061006,,OMIM ID:620015 +BMGC_DS19351,BMG_DS074670,"ARTHROGRYPOSIS, DISTAL, TYPE 11",UMLS ID:C5774205,,,,,"arthrogryposis, distal, IIa 11",MONDO:0031045,,,,,,OMIM ID:164860 | OMIM ID:620019 +BMGC_DS19352,BMG_DS074671,INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES,UMLS ID:C5774206,,,,,intellectual developmental disorder with autism and dysmorphic facies,MONDO:0859281,,,,,,OMIM ID:614235 | OMIM ID:620021 +BMGC_DS19353,BMG_DS074672,"STICKLER SYNDROME, TYPE VI",UMLS ID:C5774207,,,,,"stickler syndrome, IIa 6",MONDO:0031047,,,,,,OMIM ID:120270 | OMIM ID:620022 +BMGC_DS19354,BMG_DS074673,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES",UMLS ID:C5774208,,,,,"neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures",MONDO:0859282,,,,,,OMIM ID:118491 | OMIM ID:620023 +BMGC_DS19355,BMG_DS074674,"NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES",UMLS ID:C5774209,,,,,"neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities",MONDO:0859283,,,,,,OMIM ID:620024 | OMIM ID:603141 +BMGC_DS19356,BMG_DS074675,"DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS",UMLS ID:C5774210,,,,,"diaphragmatic hernia 4, with cardiovascular defects",MONDO:0859571,,,,,,OMIM ID:603687 | OMIM ID:620025 +BMGC_DS19357,BMG_DS074676,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY",UMLS ID:C5774211,,,,,"neurodevelopmental disorder with microcephaly, short stature, and speech delay",MONDO:0859285,,,,,,OMIM ID:602103 | OMIM ID:620027 +BMGC_DS19358,BMG_DS074677,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106,UMLS ID:C5774212,,,,,developmental and epileptic encephalopathy 106,MONDO:0031052,,,developmental and epileptic encephalopathy 106,DOID:0070392,,OMIM ID:611482 | OMIM ID:620028 +BMGC_DS19359,BMG_DS074678,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES",UMLS ID:C5774213,,,,,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",MONDO:0859286,,,"neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures",DOID:0070536,,OMIM ID:620029 +BMGC_DS19360,BMG_DS074679,"CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS",UMLS ID:C5774214,,,,,"ciliary dyskinesia, primary, 48, without situs inversus",MONDO:0031054,,,,,,OMIM ID:620032 | OMIM ID:603575 +BMGC_DS19361,BMG_DS074680,,UMLS ID:C5774215,,,,,developmental and epileptic encephalopathy 107,MONDO:0031055,,,,,,OMIM ID:620033 +BMGC_DS19362,BMG_DS074681,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE",UMLS ID:C5774216,,,,,"neurodevelopmental disorder with microcephaly, hypotonia, and absent language",MONDO:0859287,,,,,,OMIM ID:602017 | OMIM ID:620038 +BMGC_DS19363,BMG_DS074682,"DYSKERATOSIS CONGENITA, DIGENIC",UMLS ID:C5774217,,,,,"dyskeratosis congenita, digenic",MONDO:0031057,,,digenic dyskeratosis congenita,DOID:0060984,,OMIM ID:188350 | OMIM ID:620040 +BMGC_DS19364,BMG_DS074683,BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME,UMLS ID:C5774218,,,,,bone marrow failure and diabetes mellitus syndrome,MONDO:0859288,,,,,,OMIM ID:601266 | OMIM ID:620044 +BMGC_DS19365,BMG_DS074684,INTESTINAL DYSMOTILITY SYNDROME,UMLS ID:C5774219,,,,,intestinal dysmotility syndrome,MONDO:0859289,,,,,,OMIM ID:620045 | OMIM ID:610108 +BMGC_DS19366,BMG_DS074685,"MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C5774220,,,,,"microcephaly 29, primary, autosomal recessive",MONDO:0031060,,,,,,OMIM ID:608074 | OMIM ID:620047 +BMGC_DS19367,BMG_DS074686,"NEPHROTIC SYNDROME, TYPE 26",UMLS ID:C5774221,,,,,"nephrotic syndrome, IIa 26",MONDO:0031061,,,,,,OMIM ID:601033 | OMIM ID:620049 +BMGC_DS19368,BMG_DS074687,POLYCYSTIC KIDNEY DISEASE 7,UMLS ID:C5774222,,,,,polycystic kidney disease 7,MONDO:0031062,,,polycystic kidney disease 7,DOID:0060952,,OMIM ID:604565 | OMIM ID:620056 +BMGC_DS19369,BMG_DS074688,"DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2",UMLS ID:C5774223,,,,,"developmental delay with short stature, dysmorphic facial features, and sparse hair 2",MONDO:0100217,,,diphthamide deficiency syndrome 2,DOID:0070478,,OMIM ID:620062 | OMIM ID:603456 +BMGC_DS19370,BMG_DS074689,"DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS",UMLS ID:C5774224,,,,,"developmental delay, behavioral abnormalities, and neuropsychiatric disorders",MONDO:0859292,,,,,,OMIM ID:616416 | OMIM ID:620065 +BMGC_DS19371,BMG_DS074690,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT",UMLS ID:C5774225,,,,,"neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment",MONDO:0859293,,,,,,OMIM ID:611262 | OMIM ID:620066 +BMGC_DS19372,BMG_DS074691,CARDIAC VALVULAR DYSPLASIA 2,UMLS ID:C5774226,,,,,cardiac valvular dysplasia 2,MONDO:0859572,,,,,,OMIM ID:607513 | OMIM ID:620067 +BMGC_DS19373,BMG_DS074692,"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II",UMLS ID:C5774227,,,,,"Charcot-Marie-Tooth disease, axonal, IIa 2II",MONDO:0031068,,,,,,OMIM ID:620068 | OMIM ID:604878 +BMGC_DS19374,BMG_DS074693,"NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES",UMLS ID:C5774228,,,,,"neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",MONDO:0859295,,,"neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",DOID:0070479,,OMIM ID:620070 | OMIM ID:611075 +BMGC_DS19375,BMG_DS074694,BIRK-AHARONI SYNDROME,UMLS ID:C5774229,,,,,"neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss",MONDO:0859296,,,"neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss",DOID:0081324,,OMIM ID:602706 | OMIM ID:620071 +BMGC_DS19376,BMG_DS074695,DIAMOND-BLACKFAN ANEMIA 21,UMLS ID:C5774230,,,,,Diamond-Blackfan anemia 21,MONDO:0031071,,,,,,OMIM ID:614951 | OMIM ID:620072 +BMGC_DS19377,BMG_DS074696,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES,UMLS ID:C5774231,,,,,neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities,MONDO:0859297,,,,,,OMIM ID:607201 | OMIM ID:620073 +BMGC_DS19378,BMG_DS074697,"NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY",UMLS ID:C5774232,,,,,"neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly",MONDO:0859298,,,,,,OMIM ID:620075 | OMIM ID:613585 +BMGC_DS19379,BMG_DS074698,BENT BONE DYSPLASIA SYNDROME 2,UMLS ID:C5774233,,,,,bent bone dysplasia syndrome 2,MONDO:0859573,,,bent bone dysplasia syndrome 2,DOID:0060993,,OMIM ID:601033 | OMIM ID:620076 +BMGC_DS19380,BMG_DS074699,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10",UMLS ID:C5774234,,,,,"neuronopathy, distal hereditary motor, autosomal dominant 10",MONDO:0859300,,,autosomal dominant distal hereditary motor neuronopathy 10,DOID:0081399,,OMIM ID:130660 | OMIM ID:620080 +BMGC_DS19381,BMG_DS074700,NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS,UMLS ID:C5774235,,,,,neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects,MONDO:0859301,,,,,,OMIM ID:620083 | OMIM ID:601035 +BMGC_DS19382,BMG_DS074701,SPERMATOGENIC FAILURE 76,UMLS ID:C5774236,,,,,spermatogenic failure 76,MONDO:0031077,,,spermatogenic failure 76,DOID:0070575,,OMIM ID:620084 | OMIM ID:612324 +BMGC_DS19383,BMG_DS074702,HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2,UMLS ID:C5774237,,,,,hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2,MONDO:0859302,,,,,,OMIM ID:102910 | OMIM ID:620085 +BMGC_DS19384,BMG_DS074703,INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES,UMLS ID:C5774238,,,,,intellectual developmental disorder with ocular anomalies and distinctive facial features,MONDO:0859303,,,intellectual developmental disorder with ocular anomalies and distinctive facial features,DOID:0081301,,OMIM ID:616951 | OMIM ID:620086 +BMGC_DS19385,BMG_DS074704,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION",UMLS ID:C5774240,,,,,"neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction",MONDO:0859304,,,,,,OMIM ID:604407 | OMIM ID:620089 +BMGC_DS19386,BMG_DS074705,NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA,UMLS ID:C5774241,,,,,neurodevelopmental disorder with eye movement abnormalities and ataxia,MONDO:0859305,,,neurodevelopmental disorder with eye movement abnormalities and ataxia,DOID:0081275,,OMIM ID:616309 | OMIM ID:620094 +BMGC_DS19387,BMG_DS074706,DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES,UMLS ID:C5774242,,,,,developmental delay with variable intellectual disability and dysmorphic facies,MONDO:0859306,,,,,,OMIM ID:601594 | OMIM ID:620098 +BMGC_DS19388,BMG_DS074707,CLEIDOCRANIAL DYSPLASIA 2,UMLS ID:C5774243,,,,,cleidocranial dysplasia 2,MONDO:0859307,,,,,,OMIM ID:121360 | OMIM ID:620099 +BMGC_DS19389,BMG_DS074708,RETINITIS PIGMENTOSA 95,UMLS ID:C5774244,,,,,retinitis pigmentosa 95,MONDO:0859308,,,,,,OMIM ID:620102 | OMIM ID:610362 +BMGC_DS19390,BMG_DS074709,SPERMATOGENIC FAILURE 77,UMLS ID:C5774245,,,,,spermatogenic failure 77,MONDO:0031083,,,spermatogenic failure 77,DOID:0070576,,OMIM ID:620103 | OMIM ID:604839 +BMGC_DS19391,BMG_DS074710,"AMELOGENESIS IMPERFECTA, TYPE IK",UMLS ID:C5774246,,,,,"amelogenesis imperfecta, IIa 1K",MONDO:0031084,,,amelogenesis imperfecta type 1K,DOID:0060945,,OMIM ID:620104 +BMGC_DS19392,BMG_DS074711,"SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT",UMLS ID:C5774247,,,,,"spastic paraplegia 88, autosomal dominant",MONDO:0859309,,,hereditary spastic paraplegia 88,DOID:0070457,,OMIM ID:620106 | OMIM ID:601892 +BMGC_DS19393,BMG_DS074712,OROFACIODIGITAL SYNDROME XIX,UMLS ID:C5774248,,,,,orofaciodigital syndrome 19,MONDO:0859310,,,orofaciodigital syndrome XIX,DOID:0060960,,OMIM ID:608095 | OMIM ID:620107 +BMGC_DS19394,BMG_DS074713,"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J",UMLS ID:C5774249,,,,,"Charcot-Marie-Tooth disease, demyelinating, type 1J",MONDO:0859311,,,,,,OMIM ID:147267 | OMIM ID:620111 +BMGC_DS19395,BMG_DS074714,"NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES",UMLS ID:C5774251,,,,,"neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities",MONDO:0859312,,,,,,OMIM ID:608866 | OMIM ID:620113 +BMGC_DS19396,BMG_DS074715,NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES,UMLS ID:C5774252,,,,,neurodevelopmental disorder with speech impairment and with or without seizures,MONDO:0859313,,,,,,OMIM ID:620114 | OMIM ID:608230 +BMGC_DS19397,BMG_DS074716,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108,UMLS ID:C5774253,,,,,developmental and epileptic encephalopathy 108,MONDO:0859314,,,developmental and epileptic encephalopathy 108,DOID:0070394,,OMIM ID:612258 | OMIM ID:620115 +BMGC_DS19398,BMG_DS074717,"PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE",UMLS ID:C5774255,,,,,"pseudohypoaldosteronism, type IB2, autosomal recessive",MONDO:0859317,,,,,,OMIM ID:600760 | OMIM ID:620125 +BMGC_DS19399,BMG_DS074718,"PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE",UMLS ID:C5774256,,,,,"pseudohypoaldosteronism, type IB3, autosomal recessive",MONDO:0859318,,,,,,OMIM ID:600761 | OMIM ID:620126 +BMGC_DS19400,BMG_DS074719,"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8",UMLS ID:C5774257,,,,,"dyskeratosis congenita, autosomal recessive 8",MONDO:0859319,,,,,,OMIM ID:620133 | OMIM ID:609683 +BMGC_DS19401,BMG_DS074720,"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39",UMLS ID:C5774258,,,,,"mitochondrial complex I deficiency, nuclear type 39",MONDO:0859320,,,,,,OMIM ID:620135 | OMIM ID:603842 +BMGC_DS19402,BMG_DS074721,"MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11",UMLS ID:C5774259,,,,,"mitochondrial complex 3 deficiency, nuclear type 11",MONDO:0859321,,,,,,OMIM ID:613844 | OMIM ID:620137 +BMGC_DS19403,BMG_DS074722,"MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS",UMLS ID:C5774260,,,,,"myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis",MONDO:0859322,,,,,,OMIM ID:620138 +BMGC_DS19404,BMG_DS074723,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56,UMLS ID:C5774261,,,,,combined oxidative phosphorylation deficiency 56,MONDO:0859323,,,combined oxidative phosphorylation deficiency 56,DOID:0070429,,OMIM ID:614948 | OMIM ID:620139 +BMGC_DS19405,BMG_DS074724,"DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES",UMLS ID:C5774262,,,,,"developmental delay, language impairment, and ocular abnormalities",MONDO:0859324,,,,,,OMIM ID:604226 | OMIM ID:620141 +BMGC_DS19406,BMG_DS074725,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109,UMLS ID:C5774263,,,,,developmental and epileptic encephalopathy 109,MONDO:0859325,,,developmental and epileptic encephalopathy 109,DOID:0070378,,OMIM ID:620145 | OMIM ID:603619 +BMGC_DS19407,BMG_DS074726,"ICHTHYOSIS, ANNULAR EPIDERMOLYTIC, 2",UMLS ID:C5774264,,,,,"ichthyosis, annular epidermolytic, 2",MONDO:0859574,,,,,,OMIM ID:139350 | OMIM ID:620148 +BMGC_DS19408,BMG_DS074727,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110,UMLS ID:C5774265,,,,,developmental and epileptic encephalopathy 110,MONDO:0859327,,,developmental and epileptic encephalopathy 110,DOID:0070395,,OMIM ID:114204 | OMIM ID:620149 +BMGC_DS19409,BMG_DS074728,"HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY",UMLS ID:C5774266,,,,,"hypomagnesemia 7, renal, with or without dilated cardiomyopathy",MONDO:0859328,,,"renal hypomagnesemia 7, with or without dilated cardiomyopathy",DOID:0060972,,OMIM ID:620152 | OMIM ID:608268 +BMGC_DS19410,BMG_DS074729,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4,UMLS ID:C5774267,,,,,mosaic variegated aneuploidy syndrome 4,MONDO:0859329,,,mosaic variegated aneuploidy syndrome 4,DOID:0060981,,OMIM ID:620153 | OMIM ID:620142 +BMGC_DS19411,BMG_DS074730,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13,UMLS ID:C5774268,,,,,oocyte maturation defect 13,MONDO:0859330,,,,,,OMIM ID:612053 | OMIM ID:620154 +BMGC_DS19412,BMG_DS074731,RABIN-PAPPAS SYNDROME,UMLS ID:C5774269,,,,,Rabin-Pappas syndrome,MONDO:0859331,,,,,,OMIM ID:612778 | OMIM ID:620155 +BMGC_DS19413,BMG_DS074732,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11",UMLS ID:C5774270,,,,,"cortical dysplasia, complex, with other brain malformations 11",MONDO:0859332,,,,,,OMIM ID:613231 | OMIM ID:620156 +BMGC_DS19414,BMG_DS074733,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70",UMLS ID:C5774271,,,,,"intellectual developmental disorder, autosomal dominant 70",MONDO:0859333,,,,,,OMIM ID:620157 | OMIM ID:612778 +BMGC_DS19415,BMG_DS074734,SPINOCEREBELLAR ATAXIA 50,UMLS ID:C5774272,,,,,spinocerebellar ataxia 50,MONDO:0859334,,,,,,OMIM ID:602367 | OMIM ID:620158 +BMGC_DS19416,BMG_DS074735,CONGENITAL MYOPATHY 15,UMLS ID:C5774273,,,,,congenital myopathy 15,MONDO:0859335,,,congenital myopathy 15,DOID:0081347,,OMIM ID:191039 | OMIM ID:620161 +BMGC_DS19417,BMG_DS074736,"MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES",UMLS ID:C5774274,,,,,"muscular dystrophy, congenital, with or without seizures",MONDO:0859336,,,,,,OMIM ID:620166 | OMIM ID:604027 +BMGC_DS19418,BMG_DS074737,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57,UMLS ID:C5774275,,,,,combined oxidative phosphorylation deficiency 57,MONDO:0859337,,,combined oxidative phosphorylation deficiency 57,DOID:0070430,,OMIM ID:620167 | OMIM ID:608188 +BMGC_DS19419,BMG_DS074738,SPERMATOGENIC FAILURE 78,UMLS ID:C5774276,,,,,spermatogenic failure 78,MONDO:0859338,,,spermatogenic failure 78,DOID:0070577,,OMIM ID:620160 | OMIM ID:620170 +BMGC_DS19420,BMG_DS074739,"TOOTH AGENESIS, SELECTIVE, 10",UMLS ID:C5774277,,,,,"tooth agenesis, selective, 10",MONDO:0859339,,,,,,OMIM ID:612920 | OMIM ID:620173 +BMGC_DS19421,BMG_DS074740,"SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET",UMLS ID:C5774278,,,,,"spinocerebellar ataxia 27B, late-onset",MONDO:0859340,,,,,,OMIM ID:601515 | OMIM ID:620174 +BMGC_DS19422,BMG_DS074741,HYPOTRICHOSIS 15,UMLS ID:C5774279,,,,,hypotrichosis 15,MONDO:0859341,,,hypotrichosis 15,DOID:0060968,,OMIM ID:620177 | OMIM ID:611956 +BMGC_DS19423,BMG_DS074742,"MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE",UMLS ID:C5774280,,,,,"microcephaly 30, primary, autosomal recessive",MONDO:0859342,,,,,,OMIM ID:602452 | OMIM ID:620183 +BMGC_DS19424,BMG_DS074743,ATELIS SYNDROME 1,UMLS ID:C5774281,,,,,Atelis syndrome 1,MONDO:0859575,,,,,,OMIM ID:610348 | OMIM ID:620184 +BMGC_DS19425,BMG_DS074744,ATELIS SYNDROME 2,UMLS ID:C5774282,,,,,Atelis syndrome 2,MONDO:0859576,,,,,,OMIM ID:609386 | OMIM ID:620185 +BMGC_DS19426,BMG_DS074745,"BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME",UMLS ID:C5774283,,,,,"obsolete branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome",MONDO:0859345,,,,,,OMIM ID:620186 | OMIM ID:602113 +BMGC_DS19427,BMG_DS074746,MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION,UMLS ID:C5774284,,,,,mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition,MONDO:0859346,,,mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition,DOID:0060982,,OMIM ID:620189 | OMIM ID:602686 +BMGC_DS19428,BMG_DS074747,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES",UMLS ID:C5774285,,,,,"neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities",MONDO:0859347,,,,,,OMIM ID:611610 | OMIM ID:620191 +BMGC_DS19429,BMG_DS074748,LACRIMOAURICULODENTODIGITAL SYNDROME 2,UMLS ID:C5774286,,,,,lacrimoauriculodentodigital syndrome 2,MONDO:0859577,,,lacrimoauriculodentodigital syndrome 2,DOID:0081371,,OMIM ID:620192 +BMGC_DS19430,BMG_DS074749,LACRIMOAURICULODENTODIGITAL SYNDROME 3,UMLS ID:C5774287,,,,,lacrimoauriculodentodigital syndrome 3,MONDO:0859578,,,lacrimoauriculodentodigital syndrome 3,DOID:0081372,,OMIM ID:620193 +BMGC_DS19431,BMG_DS074750,"NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES",UMLS ID:C5774288,,,,,"neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies",MONDO:0859350,,,,,,OMIM ID:617103 | OMIM ID:620194 +BMGC_DS19432,BMG_DS074751,OBESITY AND HYPOPIGMENTATION,UMLS ID:C5774289,,,,,obesity and hypopigmentation,MONDO:0859351,,,,,,OMIM ID:620195 +BMGC_DS19433,BMG_DS074752,SPERMATOGENIC FAILURE 79,UMLS ID:C5774290,,,,,spermatogenic failure 79,MONDO:0859352,,,spermatogenic failure 79,DOID:0070578,,OMIM ID:615215 | OMIM ID:620196 +BMGC_DS19434,BMG_DS074753,"CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS",UMLS ID:C5774291,,,,,"ciliary dyskinesia, primary, 49, without situs inversus",MONDO:0859353,,,,,,OMIM ID:620197 | OMIM ID:620187 +BMGC_DS19435,BMG_DS074754,"THYROID HORMONE METABOLISM, ABNORMAL, 3",UMLS ID:C5774292,,,,,"thyroid hormone metabolism, abnormal, 3",MONDO:0859354,,,,,,OMIM ID:165060 | OMIM ID:620198 +BMGC_DS19436,BMG_DS074755,INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES,UMLS ID:C5774293,,,,,inflammatory poikiloderma with hair abnormalities and acral keratoses,MONDO:0859355,,,inflammatory poikiloderma with hair abnormalities and acral keratoses,DOID:0070510,,OMIM ID:620199 +BMGC_DS19437,BMG_DS074756,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy",UMLS ID:C5774294,,,,,"congenital disorder of glycosylation, type IIy",MONDO:0859356,,,,,,OMIM ID:612056 | OMIM ID:620200 +BMGC_DS19438,BMG_DS074757,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz",UMLS ID:C5774295,,,,,"congenital disorder of glycosylation, type IIz",MONDO:0859357,,,,,,OMIM ID:601118 | OMIM ID:620201 +BMGC_DS19439,BMG_DS074758,"CARDIOMYOPATHY, DILATED, 2H",UMLS ID:C5774296,,,,,"cardiomyopathy, dilated, 2H",MONDO:0859358,,,,,,OMIM ID:620203 | OMIM ID:601913 +BMGC_DS19440,BMG_DS074759,"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33",UMLS ID:C5774297,,,,,"spinocerebellar ataxia, autosomal recessive 33",MONDO:0859360,,,autosomal recessive spinocerebellar ataxia 33,DOID:0070414,,OMIM ID:620208 | OMIM ID:620204 +BMGC_DS19441,BMG_DS074760,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA,UMLS ID:C5774298,,,,,neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia,MONDO:0859361,,,,,,OMIM ID:603385 | OMIM ID:620210 +BMGC_DS19442,BMG_DS074761,"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 8",UMLS ID:C5774299,,,,,"hyperinsulinemic hypoglycemia, familial, 8",MONDO:0859362,,,familial hyperinsulinemic hypoglycemia 8,DOID:0081328,,OMIM ID:616149 | OMIM ID:620211 +BMGC_DS19443,BMG_DS074762,"SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA",UMLS ID:C5774300,,,,,"spastic paraplegia 79A, autosomal dominant, with ataxia",MONDO:0859363,,,hereditary spastic paraplegia 79A,DOID:0070455,,OMIM ID:191342 | OMIM ID:620221 +BMGC_DS19444,BMG_DS074763,SPERMATOGENIC FAILURE 80,UMLS ID:C5774301,,,,,spermatogenic failure 80,MONDO:0859364,,,spermatogenic failure 80,DOID:0070579,,OMIM ID:620222 | OMIM ID:615288 +BMGC_DS19445,BMG_DS074764,"DEAFNESS, AUTOSOMAL DOMINANT 85",UMLS ID:C5774302,,,,,"hearing loss, autosomal dominant 85",MONDO:0859366,,,autosomal dominant nonsyndromic deafness 85,DOID:0070605,,OMIM ID:617445 | OMIM ID:620227 +BMGC_DS19446,BMG_DS074765,RETINITIS PIGMENTOSA 96,UMLS ID:C5774303,,,,,retinitis pigmentosa 96,MONDO:0859367,,,,,,OMIM ID:181031 | OMIM ID:620228 +BMGC_DS19447,BMG_DS074766,SHORT QT SYNDROME 7,UMLS ID:C5774304,,,,,short QT syndrome 7,MONDO:0859368,,,,,,OMIM ID:620231 | OMIM ID:106195 +BMGC_DS19448,BMG_DS074767,"JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA",UMLS ID:C5774305,,,,,"joint contractures, osteochondromas, and B-cell lymphoma",MONDO:0859369,,,,,,OMIM ID:620232 | OMIM ID:600490 +BMGC_DS19449,BMG_DS074768,"RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA",UMLS ID:C5774306,,,,,"respiratory infections, recurrent, and failure to thrive with or without diarrhea",MONDO:0859370,,,,,,OMIM ID:606358 | OMIM ID:620233 +BMGC_DS19450,BMG_DS074769,,UMLS ID:C5774307,,,,,"rhabdomyolysis, susceptibility to, 1",MONDO:0859371,,,,,,OMIM ID:620235 +BMGC_DS19451,BMG_DS074770,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES",UMLS ID:C5774308,,,,,"cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies",MONDO:0859372,,,,,,OMIM ID:611295 | OMIM ID:620236 +BMGC_DS19452,BMG_DS074771,"DEAFNESS, AUTOSOMAL RECESSIVE 120",UMLS ID:C5774309,,,,,"hearing loss, autosomal recessive 120",MONDO:0859374,,,,,,OMIM ID:620215 | OMIM ID:620238 +BMGC_DS19453,BMG_DS074772,TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3,UMLS ID:C5774310,,,,,Tessadori-Van Haaften neurodevelopmental syndrome 3,MONDO:0030993,,,,,,OMIM ID:602830 | OMIM ID:619950 +BMGC_DS19454,BMG_DS074773,"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12",UMLS ID:C5774311,,,,,"cholestasis, progressive familial intrahepatic, 12",MONDO:0031040,,,,,,OMIM ID:620010 | OMIM ID:608552 +BMGC_DS19455,BMG_DS074774,"CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY",UMLS ID:C5774312,,,,,,,,,,,,OMIM ID:119600 | OMIM ID:600211 +BMGC_DS19456,BMG_DS074775,"CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY",UMLS ID:C5774315,,,,,,,,,,,,OMIM ID:119600 | OMIM ID:600211 +BMGC_DS19457,BMG_DS074776,MEDULLOBLASTOMA PREDISPOSITION SYNDROME,UMLS ID:C5774316,,,,,,,,,,,,OMIM ID:155255 | OMIM ID:612250 +BMGC_DS19458,BMG_DS074777,FAMILIAL APOLIPOPROTEIN GENE CLUSTER DELETION SYNDROME,UMLS ID:C5774318,,,,,familial apolipoprotein gene cluster deletion syndrome,MONDO:0859290,,,,,,OMIM ID:620058 +BMGC_DS19459,BMG_DS074780,LADD SYNDROME 1,UMLS ID:C5774323,,,,,LADD syndrome 1,MONDO:0100302,,,,,,OMIM ID:149730 | OMIM ID:176943 +BMGC_DS19460,BMG_DS074819,Genetic torsion dystonia,UMLS ID:C5779546,Idiopathic familial dystonia | Idiopathic familial dystonia (disorder) | Genetic torsion dystonia,SNOMEDCT ID:230318005,"Primary dystonia, unspecified",ICD11 ID:8A02.0Z,,,,,dystonia 27 | dystonia 21 | torsion dystonia 1 | dopa-responsive dystonia | torsion dystonia 2 | torsion dystonia 4 | torsion dystonia 13 | myoclonic dystonia 11 | dystonia 25 | X-linked dystonia-parkinsonism | torsion dystonia 6 | torsion dystonia 17,DOID:0090039;DOID:0090034;DOID:0060730;DOID:0090046;DOID:0090041;DOID:0090037;DOID:0090050;DOID:0090055;DOID:0090042;DOID:0090043;DOID:0090057;DOID:0090038,ICD10 ID:G24.1, +BMGC_DS19461,BMG_DS074821,,UMLS ID:C5779548,,,,,autosomal dominant nonsyndromic hearing loss,MONDO:0019587,,,,,, +BMGC_DS19462,BMG_DS074823,Familial isolated retinal arterial tortuosity,UMLS ID:C5779553,Familial isolated retinal arterial tortuosity (disorder) | Familial isolated retinal arterial tortuosity | Retinal hemorrhage with vascular tortuosity | Tortuosity of retinal arteries | Retinal haemorrhage with vascular tortuosity | Retinal arteriolar tortuosity,SNOMEDCT ID:1231183003,,,,,,,,,, +BMGC_DS19463,BMG_DS074826,"Primary degenerative dementia of the Alzheimer type, presenile onset",UMLS ID:C5779573,"Primary degenerative dementia of the Alzheimer type, presenile onset (disorder) | Primary degenerative dementia of the Alzheimer type, presenile onset | Primary degenerative dementia of the Alzheimer type, early onset | Dementia in Alzheimer's disease with early onset | Dementia of the Alzheimers type with early onset | Presenile dementia, Alzheimer's type | Alzheimer's disease with early onset | Dementia in Alzheimer's disease - type 2",SNOMEDCT ID:416780008,,,,,,,,,, +BMGC_DS19464,BMG_DS074829,Arthrogryposis multiplex congenita,UMLS ID:C5779613,Arthrogryposis (& [multiplex congenita]) | Arthrogryposis | Arthrogryposis multiplex congenita | Arthrogryposis multiplex congenita. | Arthrogryposis (& [multiplex congenita]) (disorder) | Arthrogryposis | Arthrogryposis (disorder) | Arthrogryposis multiplex congenita | Arthrogryposis multiplex congenita (disorder) | Multiple congenital arthrogryposis | AMC - arthrogryposis multiplex congenita,SNOMEDCT ID:203040006 | SNOMEDCT ID:111246005 | SNOMEDCT ID:205402004,Arthrogryposis multiplex congenita,ICD11 ID:LD26.41,arthrogryposis multiplex congenita,MONDO:0015168,,,,,ICD10 ID:Q74.3,OMIM ID:MTHU009867 +BMGC_DS19465,BMG_DS074831,RETINITIS PIGMENTOSA-DEAFNESS SYNDROME,UMLS ID:C5779620,,,,,retinitis pigmentosa-deafness syndrome,MONDO:0010775,,,,,,OMIM ID:500004 +BMGC_DS19466,BMG_DS074832,Familial multinodular goiter syndrome,UMLS ID:C5779622,Familial multinodular goiter syndrome (disorder) | Familial multinodular goiter syndrome | FMNG - familial multinodular goitre | Familial multinodular goiter | Familial multinodular goitre | FMNG - familial multinodular goiter | Familial multinodular goitre syndrome,SNOMEDCT ID:1279836009,,,,,,,,,, +BMGC_DS19467,BMG_DS074834,Eruption of skin (disorder),UMLS ID:C5779629,Eruption | Skin rash | Skin eruption | Rash | Breaking out - eruption | Exanthem | Eruption of skin (disorder) | Eruption of skin,SNOMEDCT ID:271807003,,,,,,,,,, +BMGC_DS19468,BMG_DS074836,"NEPHROLITHIASIS, CALCIUM OXALATE, 1",UMLS ID:C5779632,,,,,nephrolithiasis susceptibility caused by SLC26A1,MONDO:0020722,,,calcium oxalate nephrolithiasis,DOID:0080652,,OMIM ID:167030 | OMIM ID:610130 +BMGC_DS19469,BMG_DS074837,Lecithin cholesterol acyltransferase deficiency,UMLS ID:C5779633,Lecithin cholesterol acyltransferase deficiency | Lecithin cholesterol acyltransferase deficiency (disorder) | LCAT (lecithin-cholesterol acyltransferase) deficiency | LCAT deficiency,SNOMEDCT ID:238091006,,,LCAT deficiency,MONDO:0018999,,,,,, +BMGC_DS19470,BMG_DS074838,,UMLS ID:C5779636,,,,,neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,MONDO:0018208,,,,,, +BMGC_DS19471,BMG_DS074840,"RIBOFLAVIN TRANSPORTER DEFICIENCY, TYPE 1",UMLS ID:C5779638,,,,,ariboflavinosis,MONDO:0004573,,,,,,OMIM ID:615026 +BMGC_DS19472,BMG_DS074841,"Liver Failure, Fulminant",UMLS ID:C5779644,,,,,,,"Liver Failure, Acute",MeSH ID:D017114,,,, +BMGC_DS19473,BMG_DS074845,Bannwarth syndrome,UMLS ID:C5779706,Lyme disease | Steere's disease | Lyme borreliosis | Lyme disease (disorder) | Bannwarth syndrome | Tick-borne meningopolyneuritis | Bannwarth syndrome (disorder) | Garin-Bujadoux-Bannwarth syndrome,SNOMEDCT ID:23502006 | SNOMEDCT ID:48982009,,,,,,,,,, +BMGC_DS19474,BMG_DS074846,L1 syndrome,UMLS ID:C5779710,"Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome | L1 syndrome | CRASH syndrome | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) | Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome",SNOMEDCT ID:716996008,,,L1 syndrome,MONDO:0017140,,,,,, +BMGC_DS19475,BMG_DS074847,,UMLS ID:C5779711,,,,,X-linked complicated spastic paraplegia type 1,MONDO:0017630,,,,,, +BMGC_DS19476,BMG_DS074850,CARPAL TUNNEL SYNDROME 1,UMLS ID:C5779776,,,,,carpal tunnel syndrome 1,MONDO:0020730,,,carpal tunnel syndrome 1,DOID:0070466,,OMIM ID:115430 +BMGC_DS19477,BMG_DS074856,Isolated cytochrome C oxidase deficiency,UMLS ID:C5779825,Isolated cytochrome C oxidase deficiency (disorder) | Isolated COX (cytochrome C oxidase) deficiency | Isolated mitochondrial respiratory chain complex IV deficiency | Isolated cytochrome C oxidase deficiency,SNOMEDCT ID:1264009006,,,,,,,"COX deficiency, benign infantile mitochondrial myopathy",DOID:0081377,, +BMGC_DS19478,BMG_DS074857,"USHER SYNDROME, TYPE IIIA",UMLS ID:C5779850,,,,,Usher syndrome type 3A,MONDO:0010170,,,,,,OMIM ID:276902 | OMIM ID:606397 +BMGC_DS19479,BMG_DS074860,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1,UMLS ID:C5779875,,,,,megalencephalic leukoencephalopathy with subcortical cysts 1,MONDO:0024555,,,,,,OMIM ID:604004 | OMIM ID:605908 +BMGC_DS19480,BMG_DS074861,FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1,UMLS ID:C5779877,,,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 1,MONDO:0007105,,,frontotemporal dementia and/or amyotrophic lateral sclerosis 1,DOID:0060213,,OMIM ID:614260 | OMIM ID:105550 +BMGC_DS19481,BMG_DS074862,Triphalangeal thumb and polysyndactyly syndrome,UMLS ID:C5779878,Triphalangeal thumb and polysyndactyly syndrome (disorder) | Triphalangeal thumb and polysyndactyly syndrome,SNOMEDCT ID:719950001,,,triphalangeal thumb-polysyndactyly syndrome,MONDO:0017454,,,,,,OMIM ID:190605 +BMGC_DS19482,BMG_DS074866,COMPLEMENT COMPONENT 4B DEFICIENCY,UMLS ID:C5779962,,,,,,,,,,,,OMIM ID:614379 +BMGC_DS19483,BMG_DS074867,Developmental and epileptic encephalopathy,UMLS ID:C5779964,DEE - developmental and epileptic encephalopathy | Developmental and epileptic encephalopathy | Developmental and epileptic encephalopathy (disorder),SNOMEDCT ID:1275631007,,,,,,,,,ICD10 ID:G93.45, +BMGC_DS19484,BMG_DS074870,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1,UMLS ID:C5779972,,,,,leukoencephalopathy with vanishing white matter 1,MONDO:0020507,,,leukoencephalopathy with vanishing white matter 1,DOID:0070374,,OMIM ID:603896 | OMIM ID:606686 +BMGC_DS19485,BMG_DS074871,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5,UMLS ID:C5779973,,,,,leukoencephalopathy with vanishing white matter 5,MONDO:0957873,,,leukoencephalopathy with vanishing white matter 5,DOID:0070367,,OMIM ID:603945 | OMIM ID:620315 +BMGC_DS19486,BMG_DS074873,"Infantile multisystem neurologic, endocrine, pancreatic disease",UMLS ID:C5779989,"IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease | Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) | Infantile multisystem neurologic, endocrine, pancreatic disease",SNOMEDCT ID:1260450002,,,,,,,,,, +BMGC_DS19487,BMG_DS074874,Congenital cataract microcornea with corneal opacity,UMLS ID:C5779991,Congenital cataract microcornea with corneal opacity | CCMCO - congenital cataract microcornea with corneal opacity | Congenital cataract microcornea with corneal opacity (disorder),SNOMEDCT ID:1279837000,,,,,,,,,, +BMGC_DS19488,BMG_DS074875,HOUGE-JANSSENS SYNDROME 1,UMLS ID:C5779996,,,,,Hogue-Janssens syndrome 1,MONDO:0014602,,,autosomal dominant intellectual developmental disorder 35,DOID:0070065,,OMIM ID:616355 +BMGC_DS19489,BMG_DS074876,"Craniosynostosis, microretrognathia, severe intellectual disability syndrome",UMLS ID:C5780021,"Craniosynostosis, microretrognathia, severe intellectual disability syndrome | Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder)",SNOMEDCT ID:1269224009,,,,,,,,,, +BMGC_DS19490,BMG_DS074877,,UMLS ID:C5780022,,,,,autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures,MONDO:0008026,,,,,,OMIM ID:158600 +BMGC_DS19491,BMG_DS074879,"Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome",UMLS ID:C5780029,"Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome | Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder)",SNOMEDCT ID:1269233006,,,,,,,,,, +BMGC_DS19492,BMG_DS074884,Classic Refsum Disease,UMLS ID:C5780941,,,,,,,Refsum Disease,MeSH ID:D012035,,,, +BMGC_DS19493,BMG_DS074885,Adult Refsum Disease,UMLS ID:C5781059,,,,,,,Refsum Disease,MeSH ID:D012035,,,, +BMGC_DS19494,BMG_DS074887,Hereditary Motor And Sensory Neuropathy IV,UMLS ID:C5781118,,,,,,,Refsum Disease,MeSH ID:D012035,,,, +BMGC_DS19495,BMG_DS074893,,UMLS ID:C5781610,,,,,craniofacial microsomia 2,MONDO:0958194,,,,,,OMIM ID:620444 +BMGC_DS19496,BMG_DS074895,EPIDERMOLYTIC HYPERKERATOSIS 1,UMLS ID:C5781874,,,,,epidermolytic hyperkeratosis 1,MONDO:0700249,,,epidermolytic hyperkeratosis 1,DOID:0081358,,OMIM ID:113800 | OMIM ID:139350 +BMGC_DS19497,BMG_DS074896,Phytanic Acid Oxidase Deficiency,UMLS ID:C5781943,,,,,,,Refsum Disease,MeSH ID:D012035,,,, +BMGC_DS19498,BMG_DS074899,Heredopathia Atactica Polyneuritiformis,UMLS ID:C5782141,,,,,,,Refsum Disease,MeSH ID:D012035,,,, +BMGC_DS19499,BMG_DS075112,,UMLS ID:C5816698,,,,,intermediate collagen VI-related muscular dystrophy,MONDO:0958353,,,,,, +BMGC_DS19500,BMG_DS075113,"CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome",UMLS ID:C5816700,"Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) | CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome | CDK13-related disorder",SNOMEDCT ID:1299154002,,,,,,,,,, +BMGC_DS19501,BMG_DS075144,,UMLS ID:C5816734,,,,,Hao-Fountain syndrome due to USP7 mutation,MONDO:0958071,,,,,,OMIM ID:616863 +BMGC_DS19502,BMG_DS075145,"Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome",UMLS ID:C5816735,"Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome | Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)",SNOMEDCT ID:1303865002,,,,,,,,,, +BMGC_DS19503,BMG_DS075151,Digenic hemochromatosis,UMLS ID:C5816744,Digenic haemochromatosis | Digenic hemochromatosis (disorder) | Digenic hemochromatosis,SNOMEDCT ID:1299153008,,,digenic hemochromatosis,MONDO:0958085,,,,,, +BMGC_DS19504,BMG_DS075154,Combined immunodeficiency due to FCHO1 deficiency,UMLS ID:C5816748,Combined immunodeficiency due to FCHO1 deficiency | Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency | Combined immunodeficiency due to FCH and mu domain containing endocytic adaptor 1 deficiency (disorder),SNOMEDCT ID:1340041000,,,,,,,,,, +BMGC_DS19505,BMG_DS075155,SLC40A1-related hemochromatosis,UMLS ID:C5816749,Solute carrier family 40 member 1-related hemochromatosis (disorder) | SLC40A1-related haemochromatosis | Solute carrier family 40 member 1-related hemochromatosis | Solute carrier family 40 member 1-related haemochromatosis | SLC40A1-related hemochromatosis,SNOMEDCT ID:1303910000,,,,,,,,,, +BMGC_DS19506,BMG_DS075156,,UMLS ID:C5816750,,,,,isolated primary pigmented nodular adrenocortical disease,MONDO:0958262,,,primary pigmented nodular adrenocortical disease,DOID:0060280,, +BMGC_DS19507,BMG_DS075157,,UMLS ID:C5816752,,,,,craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome,MONDO:0957473,,,,,, +BMGC_DS19508,BMG_DS075158,"MYT1L-related developmental delay, intellectual disability, obesity syndrome",UMLS ID:C5816753,"Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) | MYT1L-related Prader-Willi-like syndrome | MYT1L-related developmental delay, intellectual disability, obesity syndrome | Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome",SNOMEDCT ID:1303866001,,,MYT1L-related developmental delay-intellectual disability-obesity syndrome,MONDO:0957477,,,,,, +BMGC_DS19509,BMG_DS075163,,UMLS ID:C5816761,,,,,genetic central precocious puberty in male,MONDO:0968990,,,,,, +BMGC_DS19510,BMG_DS075166,,UMLS ID:C5816765,,,,,genetic central precocious puberty in female,MONDO:0958354,,,,,, +BMGC_DS19511,BMG_DS075173,"SMARCA2-related blepharophimosis, intellectual disability syndrome",UMLS ID:C5816784,"SMARCA2-related blepharophimosis, intellectual disability syndrome | SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder)",SNOMEDCT ID:1300198006,,,,,,,,,, +BMGC_DS19512,BMG_DS075177,,UMLS ID:C5816789,,,,,B-lymphoblastic leukemia/lymphoma with t(17;19),MONDO:0957428,,,B-lymphoblastic leukemia with TCF3-HLF fusion,DOID:0070627,, +BMGC_DS19513,BMG_DS075178,,UMLS ID:C5816790,,,,,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2),MONDO:0957427,,,,,, +BMGC_DS19514,BMG_DS075179,"Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome",UMLS ID:C5816791,"HPDL-related Leigh-like encephalopathy | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome (disorder) | HPDL-related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | HPDL (4-hydroxyphenylpyruvate dioxygenase like) related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome",SNOMEDCT ID:1303585005,,,,,,,,,, +BMGC_DS19515,BMG_DS075180,"Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome",UMLS ID:C5816792,"Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome | Cerebellar ataxia, brain abnormalities, cardiac conduction defects syndrome | Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) | Neurodevelopmental delay, hypotonia, cerebellar atrophy, cardiac conduction defects syndrome",SNOMEDCT ID:1303586006,,,,,,,,,, +BMGC_DS19516,BMG_DS075183,,UMLS ID:C5816796,,,,,autosomal recessive ataxia due to PEX2 deficiency,MONDO:0957443,,,,,, +BMGC_DS19517,BMG_DS075184,,UMLS ID:C5816797,,,,,autosomal recessive ataxia due to PEX16 deficiency,MONDO:0957442,,,,,, +BMGC_DS19518,BMG_DS075186,PUM1-related cerebellar ataxia,UMLS ID:C5816800,Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) | PUM1-related cerebellar ataxia | Pumilio RNA binding family member 1-related cerebellar ataxia | Adult-onset spinocerebellar ataxia type 47 | Adult-onset SCA47 (spinocerebellar ataxia type 47),SNOMEDCT ID:1303280001,,,,,,,,,, +BMGC_DS19519,BMG_DS075187,CHD8 overgrowth syndrome,UMLS ID:C5816801,"CHD8-related intellectual disability, autism, macrocephaly, tall stature syndrome | Chromodomain helicase DNA binding protein 8 overgrowth syndrome | CHD8 overgrowth syndrome | Chromodomain helicase DNA binding protein 8 overgrowth syndrome (disorder)",SNOMEDCT ID:1304276001,,,,,,,,,, +BMGC_DS19520,BMG_DS075188,,UMLS ID:C5816803,,,,,mesomelic dysplasia-digital anomalies-intellectual disability syndrome,MONDO:0858998,,,,,, +BMGC_DS19521,BMG_DS075746,Autonomic Central Nervous System Diseases,UMLS ID:C5828508,,,,,,,Autonomic Nervous System Diseases,MeSH ID:D001342,,,, +BMGC_DS19522,BMG_DS075747,Non-Familial Dysautonomia,UMLS ID:C5828509,,,,,,,Autonomic Nervous System Diseases,MeSH ID:D001342,,,, +BMGC_DS19523,BMG_DS075749,Mandibulofacial Dysostosis (MFD1),UMLS ID:C5828530,,,,,mandibulofacial dysostosis,MONDO:0015483,Mandibulofacial Dysostosis,MeSH ID:D008342,,,, +BMGC_DS19524,BMG_DS075750,Kunjin virus Infection,UMLS ID:C5828557,,,,,,,West Nile Fever,MeSH ID:D014901,,,, +BMGC_DS19525,BMG_DS075753,Septic Cavernous Sinusitis,UMLS ID:C5828565,,,,,,,Cavernous Sinus Thrombosis,MeSH ID:D020226,,,, +BMGC_DS19526,BMG_DS075754,Acute Regional Pain Syndrome,UMLS ID:C5828566,,,,,,,Complex Regional Pain Syndromes,MeSH ID:D020918,,,, +BMGC_DS19527,BMG_DS075755,Chronic Regional Pain Syndrome,UMLS ID:C5828567,,,,,,,Complex Regional Pain Syndromes,MeSH ID:D020918,,,, +BMGC_DS19528,BMG_DS075756,Mitochondrial Defect,UMLS ID:C5828574,,,,,,,Mitochondrial Diseases,MeSH ID:D028361,,,, +BMGC_DS19529,BMG_DS075758,Chronic Secondary Pain,UMLS ID:C5828595,,,,,,,Chronic Pain,MeSH ID:D059350,,,, +BMGC_DS19530,BMG_DS075765,"SPERMATOGENIC FAILURE, X-LINKED, 5",UMLS ID:C5829558,,,,,"spermatogenic failure, X-linked, 5",MONDO:0859477,,,X-linked spermatogenic failure 5,DOID:0070596,,OMIM ID:301099 | OMIM ID:312820 +BMGC_DS19531,BMG_DS075766,"SPERMATOGENIC FAILURE, X-LINKED, 6",UMLS ID:C5829562,,,,,"spermatogenic failure, X-linked, 6",MONDO:0859478,,,X-linked spermatogenic failure 6,DOID:0070597,,OMIM ID:300309 | OMIM ID:301101 +BMGC_DS19532,BMG_DS075767,"SPERMATOGENIC FAILURE, X-LINKED, 7",UMLS ID:C5829567,,,,,"spermatogenic failure, X-linked, 7",MONDO:0957202,,,X-linked spermatogenic failure 7,DOID:0070598,,OMIM ID:301106 | OMIM ID:301105 +BMGC_DS19533,BMG_DS075768,,UMLS ID:C5829568,,,,,"intellectual developmental disorder, X-linked 111",MONDO:0957203,,,,,,OMIM ID:301107 +BMGC_DS19534,BMG_DS075769,"CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1",UMLS ID:C5829571,,,,,"cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1",MONDO:0958178,,,,,,OMIM ID:300126 | OMIM ID:301108 +BMGC_DS19535,BMG_DS075770,"AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED",UMLS ID:C5829577,,,,,"autoinflammatory disease, multisystem, with immune dysregulation, X-linked",MONDO:0957494,,,,,,OMIM ID:300681 | OMIM ID:301109 +BMGC_DS19536,BMG_DS075771,"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE",UMLS ID:C5829585,,,,,"hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature",MONDO:0957495,,,,,,OMIM ID:300611 | OMIM ID:301110 +BMGC_DS19537,BMG_DS075772,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 112",UMLS ID:C5829589,,,,,"intellectual developmental disorder, X-linked 112",MONDO:0957496,,,,,,OMIM ID:301111 | OMIM ID:300061 +BMGC_DS19538,BMG_DS075773,,UMLS ID:C5829874,,,,,prolonged electroretinal response suppression 1,MONDO:0958180,,,,,,OMIM ID:608415 +BMGC_DS19539,BMG_DS075774,"CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE",UMLS ID:C5829889,,,,,"congenital myopathy 4B, autosomal recessive",MONDO:0012239,,,,,,OMIM ID:609284 | OMIM ID:191030 +BMGC_DS19540,BMG_DS075775,CONE-ROD DYSTROPHY 23,UMLS ID:C5829987,,,,,,,,,,,,OMIM ID:613425 | OMIM ID:613428 +BMGC_DS19541,BMG_DS075776,"MACULAR DYSTROPHY, RETINAL, 5",UMLS ID:C5829994,,,,,,,,,cone-rod dystrophy 15,DOID:0111021,,OMIM ID:609502 | OMIM ID:613660 +BMGC_DS19542,BMG_DS075777,"CARDIOMYOPATHY, DILATED, 1PP",UMLS ID:C5830134,,,,,,,,,hypertrophic cardiomyopathy 26,DOID:0110327,,OMIM ID:617047 +BMGC_DS19543,BMG_DS075778,ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15,UMLS ID:C5830135,,,,,,,,,hypertrophic cardiomyopathy 26,DOID:0110327,,OMIM ID:617047 +BMGC_DS19544,BMG_DS075780,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES",UMLS ID:C5830244,,,,,"neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures",MONDO:0859365,,,,,,OMIM ID:608961 | OMIM ID:620224 +BMGC_DS19545,BMG_DS075781,,UMLS ID:C5830269,,,,,"intellectual developmental disorder, autosomal recessive 78",MONDO:0859373,,,,,,OMIM ID:620237 +BMGC_DS19546,BMG_DS075782,"DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES",UMLS ID:C5830270,,,,,"developmental delay with hypotonia, myopathy, and brain abnormalities",MONDO:0859375,,,,,,OMIM ID:602580 | OMIM ID:620240 +BMGC_DS19547,BMG_DS075783,,UMLS ID:C5830272,,,,,"hydrocephalus, congenital, 5, susceptibility to",MONDO:0859376,,,,,,OMIM ID:620241 +BMGC_DS19548,BMG_DS075784,NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5830273,,,,,neurodevelopmental disorder with poor growth and behavioral abnormalities,MONDO:0859377,,,neurodevelopmental disorder with poor growth and behavioral abnormalities,DOID:0081444,,OMIM ID:620242 | OMIM ID:609126 +BMGC_DS19549,BMG_DS075785,"LEUKODYSTROPHY, HYPOMYELINATING, 25",UMLS ID:C5830275,,,,,"leukodystrophy, hypomyelinating, 25",MONDO:0859378,,,hypomyelinating leukodystrophy 25,DOID:0070401,,OMIM ID:618978 | OMIM ID:620243 +BMGC_DS19550,BMG_DS075786,LYMPHATIC MALFORMATION 13,UMLS ID:C5830279,,,,,lymphatic malformation 13,MONDO:0859379,,,,,,OMIM ID:620244 | OMIM ID:616821 +BMGC_DS19551,BMG_DS075787,EPISODIC KINESIGENIC DYSKINESIA 3,UMLS ID:C5830280,,,,,episodic kinesigenic dyskinesia 3,MONDO:0859380,,,episodic kinesigenic dyskinesia 3,DOID:0060944,,OMIM ID:620245 | OMIM ID:620108 +BMGC_DS19552,BMG_DS075788,CONGENITAL MYOPATHY 18,UMLS ID:C5830283,,,,,congenital myopathy 18,MONDO:0859514,,,congenital myopathy 18,DOID:0081350,,OMIM ID:620246 +BMGC_DS19553,BMG_DS075789,"CARDIOMYOPATHY, DILATED, 1OO",UMLS ID:C5830291,,,,,"cardiomyopathy, dilated, 100",MONDO:0859381,,,,,,OMIM ID:620247 +BMGC_DS19554,BMG_DS075790,"NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM",UMLS ID:C5830296,,,,,"neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum",MONDO:0859516,,,,,,OMIM ID:620250 +BMGC_DS19555,BMG_DS075791,CATARACT 50 WITH OR WITHOUT GLAUCOMA,UMLS ID:C5830299,,,,,cataract 50 with or without glaucoma,MONDO:0859382,,,,,,OMIM ID:608961 | OMIM ID:620253 +BMGC_DS19556,BMG_DS075792,"CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE",UMLS ID:C5830300,,,,,"congenital myopathy 2b, severe infantile, autosomal recessive",MONDO:0859517,,,congenital myopathy 2B,DOID:0081339,,OMIM ID:102610 | OMIM ID:620265 +BMGC_DS19557,BMG_DS075793,"LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA",UMLS ID:C5830312,,,,,"leukodystrophy, hypomyelinating, 26, with chondrodysplasia",MONDO:0859518,,,hypomyelinating leukodystrophy 26,DOID:0070403,,OMIM ID:620269 | OMIM ID:610788 +BMGC_DS19558,BMG_DS075794,,UMLS ID:C5830319,,,,,neurodevelopmental disorder with absent speech and movement and behavioral abnormalities,MONDO:0859519,,,,,,OMIM ID:620270 +BMGC_DS19559,BMG_DS075795,"MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23",UMLS ID:C5830322,,,,,"mitochondrial complex IV deficiency, nuclear type 23",MONDO:0859520,,,mitochondrial complex IV deficiency nuclear type 23,DOID:0070485,,OMIM ID:620275 | OMIM ID:603648 +BMGC_DS19560,BMG_DS075796,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14,UMLS ID:C5830326,,,,,oocyte maturation defect 14,MONDO:0859521,,,,,,OMIM ID:603618 | OMIM ID:620276 +BMGC_DS19561,BMG_DS075797,SPERMATOGENIC FAILURE 81,UMLS ID:C5830329,,,,,spermatogenic failure 81,MONDO:0859522,,,spermatogenic failure 81,DOID:0070580,,OMIM ID:612683 | OMIM ID:620277 +BMGC_DS19562,BMG_DS075798,"CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT",UMLS ID:C5830333,,,,,"congenital myopathy 2c, severe infantile, autosomal dominant",MONDO:0859523,,,congenital myopathy 2C,DOID:0081340,,OMIM ID:620278 | OMIM ID:102610 +BMGC_DS19563,BMG_DS075799,"DEAFNESS, AUTOSOMAL DOMINANT 86",UMLS ID:C5830340,,,,,"hearing loss, autosomal dominant 86",MONDO:0859524,,,autosomal dominant nonsyndromic deafness 86,DOID:0070610,,OMIM ID:620280 | OMIM ID:606930 +BMGC_DS19564,BMG_DS075800,"DEAFNESS, AUTOSOMAL DOMINANT 87",UMLS ID:C5830342,,,,,"hearing loss, autosomal dominant 87",MONDO:0859525,,,autosomal dominant nonsyndromic deafness 87,DOID:0070606,,OMIM ID:602758 | OMIM ID:620281 +BMGC_DS19565,BMG_DS075801,IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION,UMLS ID:C5830346,,,,,immunodeficiency 109 with lymphoproliferation,MONDO:0859526,,,,,,OMIM ID:602250 | OMIM ID:620282 +BMGC_DS19566,BMG_DS075802,"DEAFNESS, AUTOSOMAL DOMINANT 88",UMLS ID:C5830355,,,,,"hearing loss, autosomal dominant 88",MONDO:0859527,,,autosomal dominant nonsyndromic deafness 88,DOID:0070611,,OMIM ID:611123 | OMIM ID:620283 +BMGC_DS19567,BMG_DS075803,"DEAFNESS, AUTOSOMAL DOMINANT 89",UMLS ID:C5830357,,,,,"hearing loss, autosomal dominant 89",MONDO:0859528,,,autosomal dominant nonsyndromic deafness 89,DOID:0070612,,OMIM ID:620284 | OMIM ID:601461 +BMGC_DS19568,BMG_DS075804,"AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE",UMLS ID:C5830359,,,,,"amyotrophic lateral sclerosis 27, juvenile",MONDO:0859529,,,juvenile amyotrophic lateral sclerosis type 27,DOID:0081381,,OMIM ID:605712 | OMIM ID:620285 +BMGC_DS19569,BMG_DS075805,"MYOPATHY, SARCOPLASMIC BODY",UMLS ID:C5830362,,,,,"myopathy, sarcoplasmic body",MONDO:0859530,,,,,,OMIM ID:160000 | OMIM ID:620286 +BMGC_DS19570,BMG_DS075806,"NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES",UMLS ID:C5830365,,,,,"neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures",MONDO:0859531,,,,,,OMIM ID:620292 | OMIM ID:606228 +BMGC_DS19571,BMG_DS075807,,UMLS ID:C5830367,,,,,"congenital heart defects, multiple types, 9",MONDO:0859532,,,,,,OMIM ID:620294 +BMGC_DS19572,BMG_DS075808,AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS,UMLS ID:C5830371,,,,,autoinflammation with pulmonary and cutaneous vasculitis,MONDO:0957204,,,,,,OMIM ID:620296 | OMIM ID:142370 +BMGC_DS19573,BMG_DS075809,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2,UMLS ID:C5830374,,,,,mitochondrial trifunctional protein deficiency 2,MONDO:0958185,,,mitochondrial trifunctional protein deficiency 2,DOID:0060999,,OMIM ID:143450 | OMIM ID:620300 +BMGC_DS19574,BMG_DS075810,"PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8",UMLS ID:C5830375,,,,,"pituitary hormone deficiency, combined or isolated, 8",MONDO:0957208,,,combined or isolated pituitary hormone deficiency 8,DOID:0061018,,OMIM ID:620303 +BMGC_DS19575,BMG_DS075811,NEUROOCULORENAL SYNDROME,UMLS ID:C5830377,,,,,neurooculorenal syndrome,MONDO:0957210,,,,,,OMIM ID:602430 | OMIM ID:620305 +BMGC_DS19576,BMG_DS075812,NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT,UMLS ID:C5830385,,,,,neurodegeneration and seizures due to copper transport defect,MONDO:0957211,,,,,,OMIM ID:603085 | OMIM ID:620306 +BMGC_DS19577,BMG_DS075813,CONGENITAL MYOPATHY 20,UMLS ID:C5830393,,,,,congenital myopathy 20,MONDO:0957215,,,congenital myopathy 20,DOID:0081352,,OMIM ID:620310 | OMIM ID:180903 +BMGC_DS19578,BMG_DS075814,PREMATURE OVARIAN FAILURE 21,UMLS ID:C5830399,,,,,premature ovarian failure 21,MONDO:0957216,,,,,,OMIM ID:603273 | OMIM ID:620311 +BMGC_DS19579,BMG_DS075815,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2,UMLS ID:C5830404,,,,,leukoencephalopathy with vanishing white matter 2,MONDO:0957870,,,leukoencephalopathy with vanishing white matter 2,DOID:0070373,,OMIM ID:606454 | OMIM ID:620312 +BMGC_DS19580,BMG_DS075816,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3,UMLS ID:C5830405,,,,,leukoencephalopathy with vanishing white matter 3,MONDO:0957871,,,leukoencephalopathy with vanishing white matter 3,DOID:0070372,,OMIM ID:606273 | OMIM ID:620313 +BMGC_DS19581,BMG_DS075817,LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4,UMLS ID:C5830406,,,,,leukoencephalopathy with vanishing white matter 4,MONDO:0957872,,,leukoencephalopathy with vanishing white matter 4,DOID:0070371,,OMIM ID:620314 | OMIM ID:606687 +BMGC_DS19582,BMG_DS075818,"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12",UMLS ID:C5830407,,,,,"cortical dysplasia, complex, with other brain malformations 12",MONDO:0957217,,,,,,OMIM ID:613774 | OMIM ID:620316 +BMGC_DS19583,BMG_DS075819,"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES",UMLS ID:C5830413,,,,,"neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities",MONDO:0957218,,,,,,OMIM ID:191050 | OMIM ID:620317 +BMGC_DS19584,BMG_DS075820,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17,UMLS ID:C5830418,,,,,oocyte/zygote/embryo maturation arrest 17,MONDO:0957220,,,,,,OMIM ID:614107 | OMIM ID:620319 +BMGC_DS19585,BMG_DS075821,"HEMATURIA, BENIGN FAMILIAL, 2",UMLS ID:C5830421,,,,,"hematuria, benign familial, 2",MONDO:0958186,,,,,,OMIM ID:120070 | OMIM ID:620320 +BMGC_DS19586,BMG_DS075822,C1q DEFICIENCY 2,UMLS ID:C5830422,,,,,C1Q deficiency 2,MONDO:0958187,,,,,,OMIM ID:620321 +BMGC_DS19587,BMG_DS075823,C1q DEFICIENCY 3,UMLS ID:C5830423,,,,,C1Q deficiency 3,MONDO:0958188,,,,,,OMIM ID:620322 +BMGC_DS19588,BMG_DS075824,CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE,UMLS ID:C5830424,,,,,congenital myopathy 21 with early respiratory failure,MONDO:0957224,,,congenital myopathy 21,DOID:0081353,,OMIM ID:620326 | OMIM ID:611327 +BMGC_DS19589,BMG_DS075825,"NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES",UMLS ID:C5830433,,,,,"neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities",MONDO:0957225,,,,,,OMIM ID:612383 | OMIM ID:620327 +BMGC_DS19590,BMG_DS075826,,UMLS ID:C5830437,,,,,"intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities",MONDO:0957228,,,,,,OMIM ID:620330 +BMGC_DS19591,BMG_DS075827,HATIPOGLU IMMUNODEFICIENCY SYNDROME,UMLS ID:C5830439,,,,,hatipoglu immunodeficiency syndrome,MONDO:0957229,,,,,,OMIM ID:608258 | OMIM ID:620331 +BMGC_DS19592,BMG_DS075828,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 18,UMLS ID:C5830441,,,,,oocyte/zygote/embryo maturation arrest 18,MONDO:0957230,,,,,,OMIM ID:609364 | OMIM ID:620332 +BMGC_DS19593,BMG_DS075829,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19,UMLS ID:C5830442,,,,,oocyte/zygote/embryo maturation arrest 19,MONDO:0957231,,,,,,OMIM ID:620333 | OMIM ID:609658 +BMGC_DS19594,BMG_DS075830,CONE-ROD DYSTROPHY 24,UMLS ID:C5830446,,,,,cone-rod dystrophy 24,MONDO:0957240,,,cone-rod dystrophy 24,DOID:0081449,,OMIM ID:604011 | OMIM ID:620342 +BMGC_DS19595,BMG_DS075831,,UMLS ID:C5830451,,,,,basal cell nevus syndrome 2,MONDO:0958189,,,,,,OMIM ID:620343 +BMGC_DS19596,BMG_DS075832,,UMLS ID:C5830452,,,,,prolonged electroretinal response suppression 2,MONDO:0958190,,,,,,OMIM ID:620344 +BMGC_DS19597,BMG_DS075833,"CONGENITAL MYOPATHY 22A, CLASSIC",UMLS ID:C5830453,,,,,"congenital myopathy 22A, classic",MONDO:0957247,,,congenital myopathy 22A,DOID:0081354,,OMIM ID:603967 | OMIM ID:620351 +BMGC_DS19598,BMG_DS075834,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B,UMLS ID:C5830459,,,,,"developmental and epileptic encephalopathy, 31B",MONDO:0957248,,,developmental and epileptic encephalopathy 31B,DOID:0070376,,OMIM ID:602377 | OMIM ID:620352 +BMGC_DS19599,BMG_DS075835,SPERMATOGENIC FAILURE 82,UMLS ID:C5830468,,,,,spermatogenic failure 82,MONDO:0957249,,,spermatogenic failure 82,DOID:0070581,,OMIM ID:604689 | OMIM ID:620353 +BMGC_DS19600,BMG_DS075836,SPERMATOGENIC FAILURE 83,UMLS ID:C5830470,,,,,spermatogenic failure 83,MONDO:0957250,,,spermatogenic failure 83,DOID:0070582,,OMIM ID:602135 | OMIM ID:620354 +BMGC_DS19601,BMG_DS075837,"CILIARY DYSKINESIA, PRIMARY, 50",UMLS ID:C5830473,,,,,"ciliary dyskinesia, primary, 50",MONDO:0957252,,,,,,OMIM ID:610061 | OMIM ID:620356 +BMGC_DS19602,BMG_DS075838,DIARRHEA 13,UMLS ID:C5830477,,,,,diarrhea 13,MONDO:0957253,,,,,,OMIM ID:620357 | OMIM ID:605677 +BMGC_DS19603,BMG_DS075839,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A",UMLS ID:C5830480,,,,,"mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A",MONDO:0957254,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 4A,DOID:0070461,,OMIM ID:620358 | OMIM ID:164360 +BMGC_DS19604,BMG_DS075840,"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7",UMLS ID:C5830482,,,,,"mitochondrial complex V (ATP synthase) deficiency, nuclear type 7",MONDO:0957255,,,mitochondrial complex V (ATP synthase) deficiency nuclear type 7,DOID:0070464,,OMIM ID:600828 | OMIM ID:620359 +BMGC_DS19605,BMG_DS075841,,UMLS ID:C5830484,,,,,combined low LDL and fibrinogen,MONDO:0957260,,,,,,OMIM ID:620364 +BMGC_DS19606,BMG_DS075842,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 7",UMLS ID:C5830485,,,,,"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7",MONDO:0957261,,,,,,OMIM ID:617868 | OMIM ID:620365 +BMGC_DS19607,BMG_DS075843,"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 9",UMLS ID:C5830487,,,,,"osteopetrosis, autosomal recessive 9",MONDO:0957262,,,,,,OMIM ID:109280 | OMIM ID:620366 +BMGC_DS19608,BMG_DS075844,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8",UMLS ID:C5830496,,,,,"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8",MONDO:0957263,,,,,,OMIM ID:620367 | OMIM ID:606478 +BMGC_DS19609,BMG_DS075845,CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3,UMLS ID:C5830497,,,,,cerebroretinal microangiopathy with calcifications and cysts 3,MONDO:0957264,,,,,,OMIM ID:606478 | OMIM ID:620368 +BMGC_DS19610,BMG_DS075846,"CONGENITAL MYOPATHY 22B, SEVERE FETAL",UMLS ID:C5830501,,,,,"congenital myopathy 22B, severe fetal",MONDO:0957265,,,congenital myopathy 22B,DOID:0081355,,OMIM ID:603967 | OMIM ID:620369 +BMGC_DS19611,BMG_DS075847,RECON PROGEROID SYNDROME,UMLS ID:C5830504,,,,,RECON progeroid syndrome,MONDO:0957266,,,,,,OMIM ID:600537 | OMIM ID:620370 +BMGC_DS19612,BMG_DS075848,"NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY",UMLS ID:C5830509,,,,,"neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity",MONDO:0957267,,,,,,OMIM ID:620371 | OMIM ID:614281 +BMGC_DS19613,BMG_DS075849,HYPERSULFATURIA,UMLS ID:C5830511,,,,,hypersulfaturia,MONDO:0957268,,,,,,OMIM ID:610130 | OMIM ID:620372 +BMGC_DS19614,BMG_DS075850,"NEPHROLITHIASIS, CALCIUM OXALATE, 2, WITH OR WITHOUT NEPHROCALCINOSIS",UMLS ID:C5830516,,,,,"nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis",MONDO:0958191,,,,,,OMIM ID:620374 +BMGC_DS19615,BMG_DS075851,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28",UMLS ID:C5830518,,,,,"muscular dystrophy, limb-girdle, autosomal recessive 28",MONDO:0957270,,,,,,OMIM ID:142910 | OMIM ID:620375 +BMGC_DS19616,BMG_DS075852,"AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS",UMLS ID:C5830525,,,,,"autoinflammatory disease, systemic, with vasculitis",MONDO:0957271,,,,,,OMIM ID:165120 | OMIM ID:620376 +BMGC_DS19617,BMG_DS075853,"SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE",UMLS ID:C5830531,,,,,"spastic paraplegia 89, autosomal recessive",MONDO:0957274,,,hereditary spastic paraplegia 89,DOID:0070458,,OMIM ID:620379 | OMIM ID:603243 +BMGC_DS19618,BMG_DS075854,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20,UMLS ID:C5830539,,,,,oocyte/zygote/embryo maturation arrest 20,MONDO:0957278,,,,,,OMIM ID:190060 | OMIM ID:620383 +BMGC_DS19619,BMG_DS075855,"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2",UMLS ID:C5830542,,,,,"auditory neuropathy, autosomal dominant 2",MONDO:0957279,,,,,,OMIM ID:605868 | OMIM ID:620384 +BMGC_DS19620,BMG_DS075856,"NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET",UMLS ID:C5830545,,,,,"nemaline myopathy 5B, autosomal recessive, childhood-onset",MONDO:0957281,,,nemaline myopathy 5B,DOID:0081374,,OMIM ID:191041 | OMIM ID:620386 +BMGC_DS19621,BMG_DS075857,"NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT",UMLS ID:C5830549,,,,,"nemaline myopathy 5C, autosomal dominant",MONDO:0957284,,,nemaline myopathy 5C,DOID:0081375,,OMIM ID:620389 | OMIM ID:191041 +BMGC_DS19622,BMG_DS075858,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79",UMLS ID:C5830553,,,,,"intellectual developmental disorder, autosomal recessive 79",MONDO:0957288,,,,,,OMIM ID:620393 | OMIM ID:189940 +BMGC_DS19623,BMG_DS075859,GLYCINE ENCEPHALOPATHY 2,UMLS ID:C5830559,,,,,glycine encephalopathy 2,MONDO:0958192,,,glycine encephalopathy 2,DOID:0061001,,OMIM ID:238310 | OMIM ID:620398 +BMGC_DS19624,BMG_DS075860,"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9",UMLS ID:C5830560,,,,,"pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9",MONDO:0957294,,,,,,OMIM ID:606471 | OMIM ID:620400 +BMGC_DS19625,BMG_DS075861,SPERMATOGENIC FAILURE 84,UMLS ID:C5830562,,,,,spermatogenic failure 84,MONDO:0957301,,,spermatogenic failure 84,DOID:0070583,,OMIM ID:620381 | OMIM ID:620409 +BMGC_DS19626,BMG_DS075862,"SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT",UMLS ID:C5830574,,,,,"spastic paraplegia 90A, autosomal dominant",MONDO:0957308,,,hereditary spastic paraplegia 90A,DOID:0070459,,OMIM ID:620416 | OMIM ID:613540 +BMGC_DS19627,BMG_DS075863,"SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE",UMLS ID:C5830578,,,,,"spastic paraplegia 90B, autosomal recessive",MONDO:0957309,,,hereditary spastic paraplegia 90B,DOID:0070460,,OMIM ID:613540 | OMIM ID:620417 +BMGC_DS19628,BMG_DS075864,RETINITIS PIGMENTOSA 97,UMLS ID:C5830579,,,,,retinitis pigmentosa 97,MONDO:0957314,,,,,,OMIM ID:617509 | OMIM ID:620422 +BMGC_DS19629,BMG_DS075865,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7,UMLS ID:C5830586,,,,,multiple mitochondrial dysfunctions syndrome 7,MONDO:0957382,,,,,,OMIM ID:238330 | OMIM ID:620423 +BMGC_DS19630,BMG_DS075866,"CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2",UMLS ID:C5830590,,,,,"cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2",MONDO:0958193,,,,,,OMIM ID:620425 | OMIM ID:606471 +BMGC_DS19631,BMG_DS075867,"DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS",UMLS ID:C5830592,,,,,"dystonia 37, early-onset, with striatal lesions",MONDO:0957385,,,"dystonia 37, early-onset with striatal lesions",DOID:0060956,,OMIM ID:607607 | OMIM ID:620427 +BMGC_DS19632,BMG_DS075868,"NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES",UMLS ID:C5830596,,,,,"neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",MONDO:0957386,,,"neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities",DOID:0081387,,OMIM ID:611354 | OMIM ID:620428 +BMGC_DS19633,BMG_DS075869,"AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3",UMLS ID:C5830600,,,,,"autoimmune disease, multisystem, infantile-onset, 3",MONDO:0957388,,,,,,OMIM ID:604491 | OMIM ID:620430 +BMGC_DS19634,BMG_DS075870,"CILIARY DYSKINESIA, PRIMARY, 51",UMLS ID:C5830608,,,,,"ciliary dyskinesia, primary, 51",MONDO:0957396,,,,,,OMIM ID:617824 | OMIM ID:620438 +BMGC_DS19635,BMG_DS075871,,UMLS ID:C5830612,,,,,"intellectual developmental disorder, autosomal dominant 72",MONDO:0957397,,,,,,OMIM ID:620439 +BMGC_DS19636,BMG_DS075872,,UMLS ID:C5830615,,,,,"breast-ovarian cancer, familial, susceptibility to, 5",MONDO:0957530,,,,,,OMIM ID:620442 +BMGC_DS19637,BMG_DS075873,NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES,UMLS ID:C5830624,,,,,neurodevelopmental disorder with microcephaly and movement abnormalities,MONDO:0957531,,,,,,OMIM ID:614425 | OMIM ID:620445 +BMGC_DS19638,BMG_DS075874,MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3,UMLS ID:C5830625,,,,,megalencephalic leukoencephalopathy with subcortical cysts 3,MONDO:0957533,,,,,,OMIM ID:605948 | OMIM ID:620447 +BMGC_DS19639,BMG_DS075875,"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING",UMLS ID:C5830628,,,,,"megalencephalic leukoencephalopathy with subcortical cysts 4, remitting",MONDO:0957534,,,,,,OMIM ID:600308 | OMIM ID:620448 +BMGC_DS19640,BMG_DS075876,IMMUNODEFICIENCY 112,UMLS ID:C5830633,,,,,immunodeficiency 112,MONDO:0957535,,,,,,OMIM ID:620449 | OMIM ID:604655 +BMGC_DS19641,BMG_DS075877,,UMLS ID:C5830636,,,,,"intellectual developmental disorder, autosomal dominant 73",MONDO:0957536,,,,,,OMIM ID:620450 +BMGC_DS19642,BMG_DS075878,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58,UMLS ID:C5830641,,,,,combined oxidative phosphorylation deficiency 58,MONDO:0957537,,,,,,OMIM ID:620451 | OMIM ID:616422 +BMGC_DS19643,BMG_DS075879,AMYOTROPHIC LATERAL SCLEROSIS 28,UMLS ID:C5830642,,,,,amyotrophic lateral sclerosis 28,MONDO:0957538,,,amyotrophic lateral sclerosis type 28,DOID:0081382,,OMIM ID:618299 | OMIM ID:620452 +BMGC_DS19644,BMG_DS075880,"DYSTONIA 22, JUVENILE-ONSET",UMLS ID:C5830645,,,,,"dystonia 22, juvenile-onset",MONDO:0957539,,,"dystonia 22, juvenile-onset",DOID:0060966,,OMIM ID:610764 | OMIM ID:620453 +BMGC_DS19645,BMG_DS075881,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa",UMLS ID:C5830651,,,,,"congenital disorder of glycosylation, type IIaa",MONDO:0957540,,,,,,OMIM ID:620454 +BMGC_DS19646,BMG_DS075882,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES",UMLS ID:C5830654,,,,,"neurodevelopmental disorder with hypotonia and speech delay, with or without seizures",MONDO:0957541,,,neurodevelopmental disorder with hypotonia and speech delay,DOID:0070512,,OMIM ID:620455 +BMGC_DS19647,BMG_DS075883,"DYSTONIA 22, ADULT-ONSET",UMLS ID:C5830658,,,,,"dystonia 22, adult-onset",MONDO:0957542,,,"dystonia 22, adult-onset",DOID:0060967,,OMIM ID:620456 | OMIM ID:610764 +BMGC_DS19648,BMG_DS075884,AURICULOCONDYLAR SYNDROME 4,UMLS ID:C5830659,,,,,auriculocondylar syndrome 4,MONDO:0957543,,,,,,OMIM ID:606543 | OMIM ID:620457 +BMGC_DS19649,BMG_DS075885,AURICULOCONDYLAR SYNDROME 2B,UMLS ID:C5830664,,,,,auriculocondylar syndrome 2B,MONDO:0957544,,,,,,OMIM ID:600810 | OMIM ID:620458 +BMGC_DS19650,BMG_DS075886,BIRT-HOGG-DUBE SYNDROME 2,UMLS ID:C5830676,,,,,Birt-Hogg-Dube syndrome 2,MONDO:0800455,,,,,,OMIM ID:618319 | OMIM ID:620459 +BMGC_DS19651,BMG_DS075887,OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2,UMLS ID:C5830682,,,,,oculopharyngeal muscular dystrophy 2,MONDO:0958195,,,,,,OMIM ID:600124 | OMIM ID:620460 +BMGC_DS19652,BMG_DS075888,"CARDIOMYOPATHY, DILATED, 2I",UMLS ID:C5830685,,,,,"cardiomyopathy, dilated, 2I",MONDO:0957545,,,,,,OMIM ID:620462 | OMIM ID:618385 +BMGC_DS19653,BMG_DS075890,"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15",UMLS ID:C5830688,,,,,,,,,hypertrophic cardiomyopathy 26,DOID:0110327,,OMIM ID:102565 | OMIM ID:617047 +BMGC_DS19654,BMG_DS075894,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY,UMLS ID:C5830693,,,,,,,,,mitochondrial trifunctional protein deficiency 2,DOID:0060999,,OMIM ID:143450 | OMIM ID:620300 +BMGC_DS19655,BMG_DS075898,,UMLS ID:C5830701,,,,,central core myopathy,MONDO:0007294,,,,,,OMIM ID:117000 +BMGC_DS19656,BMG_DS075901,MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY,UMLS ID:C5830705,,,,,,,,,mitochondrial trifunctional protein deficiency 1,DOID:0070619,,OMIM ID:600890 | OMIM ID:609015 +BMGC_DS19657,BMG_DS075960,Autosomal dominant popliteal pterygium syndrome,UMLS ID:C5848052,Autosomal dominant popliteal pterygium syndrome (disorder) | Autosomal dominant popliteal pterygium syndrome | Facio-genito-popliteal syndrome | Popliteal web syndrome,SNOMEDCT ID:718222000,,,autosomal dominant popliteal pterygium syndrome,MONDO:0007334,,,,,,OMIM ID:119500 +BMGC_DS19658,BMG_DS075964,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA",UMLS ID:C5848058,,,,,"cutis laxa, autosomal recessive, type 1A",MONDO:0009052,,,,,,OMIM ID:219100 | OMIM ID:604580 +BMGC_DS19659,BMG_DS075985,Deficiency of hypoxanthine phosphoribosyltransferase,UMLS ID:C5848153,Deficiency of hypoxanthine-guanine phosphoribosyltransferase | Deficiency of guanine phosphoribosyltransferase | Deficiency of IMP pyrophosphorylase | Deficiency of hypoxanthine phosphoribosyltransferase | Deficiency of hypoxanthine phosphoribosyltransferase (disorder),SNOMEDCT ID:124275001,,,hypoxanthine-guanine phosphoribosyltransferase deficiency,MONDO:0016088,,,,,, +BMGC_DS19660,BMG_DS075988,Resistance to activated protein C due to factor V Leiden mutation,UMLS ID:C5848173,Activated protein C resistance | Resistance to activated protein C due to factor V Leiden mutation | Resistance to activated protein C due to factor V Leiden mutation (disorder) | Resistance to activated protein C caused by factor V R506Q mutation,SNOMEDCT ID:421527008,,,,,,,,,, +BMGC_DS19661,BMG_DS075991,MYOCLONIC EPILEPSY OF LAFORA 1,UMLS ID:C5848203,,,,,myoclonic epilepsy of Lafora 1,MONDO:0958199,,,,,,OMIM ID:254780 | OMIM ID:607566 +BMGC_DS19662,BMG_DS075996,Lamellar ichthyosis (disorder),UMLS ID:C5848247,Lamellar ichthyosis | Collodion baby | Lamellar ichthyosis (disorder),SNOMEDCT ID:205550003,,,lamellar ichthyosis,MONDO:0017778,,,,,, +BMGC_DS19663,BMG_DS075998,Secondary polycythemia,UMLS ID:C5848252,Secondary polycythaemia | Secondary polycythemia | Secondary polycythaemia (disorder),SNOMEDCT ID:154835002,"Acquired polycythaemia, unspecified",ICD11 ID:3A81.Z,,,,,familial erythrocytosis 2,DOID:0060474,ICD10 ID:D75.1, +BMGC_DS19664,BMG_DS075999,Hemophilia B Leyden,UMLS ID:C5848256,Hemophilia B Leyden (disorder) | Haemophilia B Leyden | Factor 9 deficiency Leyden type | Factor IX deficiency Leyden type | Hemophilia B Leyden,SNOMEDCT ID:1336117005,,,hemophilia B leyden,MONDO:0850054,Hemophilia B,MeSH ID:D002836,,,, +BMGC_DS19665,BMG_DS076000,Primary adrenocortical insufficiency,UMLS ID:C5848257,Primary adrenocortical insufficiency (disorder) | Primary adrenocortical insufficiency | Primary hypoadrenalism,SNOMEDCT ID:373662000,Acquired adrenocortical insufficiency,ICD11 ID:5A74.0,,,,,,,ICD10 ID:E27.1, +BMGC_DS19666,BMG_DS076002,"Spinal Muscular Atrophy, Infantile",UMLS ID:C5848259,,,,,"spinal muscular atrophy, type 1",MONDO:0009669,Spinal Muscular Atrophies of Childhood,MeSH ID:D014897,,,,OMIM ID:253300 +BMGC_DS19667,BMG_DS076004,Hearing Disorders,UMLS ID:C5848261,,,,,,,Hearing Disorders,MeSH ID:D006311,,,, +BMGC_DS19668,BMG_DS076011,Porphyria (disorder),UMLS ID:C5848305,Porphyria (disorder) | Porphyria | Porphyria | Porphyria (disorder),SNOMEDCT ID:418470004 | SNOMEDCT ID:154768004 | SNOMEDCT ID:274090006,,,porphyria,MONDO:0037939,,,,,, +BMGC_DS19669,BMG_DS076012,Porphyrias,UMLS ID:C5848306,,,,,,,Porphyrias,MeSH ID:D011164,,,, +BMGC_DS19670,BMG_DS076015,DYSTONIA-DEAFNESS SYNDROME 1,UMLS ID:C5848323,,,,,developmental malformations-deafness-dystonia syndrome,MONDO:0011823,,,,,,OMIM ID:102630 | OMIM ID:607371 +BMGC_DS19671,BMG_DS076020,Myotonia permanens,UMLS ID:C5848361,Myotonia permanens (disorder) | Myotonia permanens,SNOMEDCT ID:715789009,,,myotonia permanens,MONDO:0020482,,MeSH ID:C538353,,,ICD10 ID:G71.19, +BMGC_DS19672,BMG_DS076029,"IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION",UMLS ID:C5848750,,,,,"immune dysregulation, autoimmunity, and autoinflammation",MONDO:0957790,,,,,,OMIM ID:172420 | OMIM ID:620514 +BMGC_DS19673,BMG_DS076030,"BECKER NEVUS, ISOLATED",UMLS ID:C5848751,,,,,,,,,,,,OMIM ID:604919 +BMGC_DS19674,BMG_DS076031,"HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS",UMLS ID:C5848786,,,,,"hyper-IgE syndrome 6, autosomal dominant, with recurrent infections",MONDO:0957807,,,,,,OMIM ID:620532 | OMIM ID:601512 +BMGC_DS19675,BMG_DS076075,,UMLS ID:C5855476,,,,,,,,,B-lymphoblastic leukemia with MYC rearrangement,DOID:0070624,, +BMGC_DS19676,BMG_DS076077,,UMLS ID:C5855479,,,,,,,,,B-lymphoblastic leukemia with MEF2D rearrangement,DOID:0070623,, +BMGC_DS19677,BMG_DS076078,,UMLS ID:C5855480,,,,,,,,,B-lymphoblastic leukemia with ZNF384 rearrangement,DOID:0070628,, +BMGC_DS19678,BMG_DS076079,,UMLS ID:C5855485,,,,,,,,,B-lymphoblastic leukemia with NUTM1 rearrangement,DOID:0070625,, +BMGC_DS19679,BMG_DS076081,,UMLS ID:C5855502,,,,,,,,,B-lymphoblastic leukemia with PAX5alt,DOID:0070626,, +BMGC_DS19680,BMG_DS076082,,UMLS ID:C5856227,,,,,,,,,acute myeloid leukemia with FUS-ERG fusion,DOID:0070631,, +BMGC_DS19681,BMG_DS076083,,UMLS ID:C5856228,,,,,,,,,acute myeloid leukemia with NPM1-MLF1 fusion,DOID:0070633,, +BMGC_DS19682,BMG_DS076084,,UMLS ID:C5856321,,,,,,,,,B-lymphoblastic leukemia with TCF3-HLF fusion,DOID:0070627,, +BMGC_DS19683,BMG_DS076421,"ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT",UMLS ID:C5882663,,,,,autosomal dominant Alport syndrome,MONDO:0007086,,,autosomal dominant Alport syndrome,DOID:0110032,,OMIM ID:104200 | OMIM ID:120070 +BMGC_DS19684,BMG_DS076422,LUI-JEE-BARON SYNDROME,UMLS ID:C5882664,,,,,Lui-Jee-Baron syndrome,MONDO:0957919,,,,,,OMIM ID:301113 | OMIM ID:301114 +BMGC_DS19685,BMG_DS076423,IMMUNODEFICIENCY 118,UMLS ID:C5882665,,,,,immunodeficiency 118,MONDO:0958030,,,,,,OMIM ID:300587 | OMIM ID:301115 +BMGC_DS19686,BMG_DS076424,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113",UMLS ID:C5882666,,,,,"intellectual developmental disorder, x-linked 113",MONDO:0958200,,,,,,OMIM ID:301116 | OMIM ID:300907 +BMGC_DS19687,BMG_DS076425,"AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1",UMLS ID:C5882667,,,,,congenital amegakaryocytic thrombocytopenia 1,MONDO:0800452,,,congenital amegakaryocytic thrombocytopenia 1,DOID:0061005,,OMIM ID:159530 | OMIM ID:604498 +BMGC_DS19688,BMG_DS076426,TUMOR PREDISPOSITION SYNDROME 4,UMLS ID:C5882668,,,,,,,,,,,,OMIM ID:604373 | OMIM ID:609265 +BMGC_DS19689,BMG_DS076427,"SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT",UMLS ID:C5882669,,,,,hereditary spastic paraplegia 72,MONDO:0014282,,,,,,OMIM ID:609347 | OMIM ID:615625 +BMGC_DS19690,BMG_DS076428,"EPILEPSY, EARLY-ONSET, 2, WITH OR WITHOUT DEVELOPMENTAL DELAY",UMLS ID:C5882670,,,,,"epilepsy, early-onset, with or without developmental delay",MONDO:0030005,,,early-onset epilepsy 2,DOID:0070471,,OMIM ID:618832 +BMGC_DS19691,BMG_DS076429,"EPIDERMOLYTIC HYPERKERATOSIS 2A, AUTOSOMAL DOMINANT",UMLS ID:C5882671,,,,,"epidermolytic hyperkeratosis 2A, autosomal dominant",MONDO:0700248,,,epidermolytic hyperkeratosis 2,DOID:0081359,,OMIM ID:620150 | OMIM ID:148080 +BMGC_DS19692,BMG_DS076430,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9",UMLS ID:C5882672,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 9",MONDO:0957874,,,autosomal recessive distal hereditary motor neuronopathy 9,DOID:0081428,,OMIM ID:601683 | OMIM ID:620402 +BMGC_DS19693,BMG_DS076431,,UMLS ID:C5882673,,,,,"encephalitis, acute, infection-induced, susceptibility to, 12",MONDO:0957561,,,,,,OMIM ID:620461 +BMGC_DS19694,BMG_DS076432,"EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY",UMLS ID:C5882674,,,,,"epilepsy, early-onset, 3, with or without developmental delay",MONDO:0958196,,,early-onset epilepsy 3,DOID:0070472,,OMIM ID:620465 +BMGC_DS19695,BMG_DS076433,"CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY",UMLS ID:C5882675,,,,,"cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay",MONDO:0957563,,,,,,OMIM ID:601726 | OMIM ID:620469 +BMGC_DS19696,BMG_DS076434,,UMLS ID:C5882676,,,,,"congenital smooth muscle hamartoma, with or without hemihypertrophy",MONDO:0957564,,,,,,OMIM ID:620470 +BMGC_DS19697,BMG_DS076435,"THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY",UMLS ID:C5882677,,,,,,,,,,,,OMIM ID:102630 | OMIM ID:620475 +BMGC_DS19698,BMG_DS076436,THROMBOCYTOPENIA 9,UMLS ID:C5882678,,,,,thrombocytopenia 9,MONDO:0957572,,,,,,OMIM ID:620478 | OMIM ID:600044 +BMGC_DS19699,BMG_DS076437,"AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2",UMLS ID:C5882679,,,,,"amegakaryocytic thrombocytopenia, congenital, 2",MONDO:0957575,,,congenital amegakaryocytic thrombocytopenia 2,DOID:0061002,,OMIM ID:620481 | OMIM ID:600044 +BMGC_DS19700,BMG_DS076438,"PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT",UMLS ID:C5882680,,,,,"parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development",MONDO:0957576,,,Parkinson's disease 25,DOID:0070486,,OMIM ID:600756 | OMIM ID:620482 +BMGC_DS19701,BMG_DS076439,"VARIEGATE PORPHYRIA, CHILDHOOD-ONSET",UMLS ID:C5882681,,,,,"variegate porphyria, childhood-onset",MONDO:0957577,,,,,,OMIM ID:600923 | OMIM ID:620483 +BMGC_DS19702,BMG_DS076440,THROMBOCYTOPENIA 10,UMLS ID:C5882682,,,,,thrombocytopenia 10,MONDO:0957578,,,,,,OMIM ID:600925 | OMIM ID:620484 +BMGC_DS19703,BMG_DS076441,"BLEEDING DISORDER, PLATELET-TYPE, 25",UMLS ID:C5882683,,,,,"bleeding disorder, platelet-type, 25",MONDO:0957580,,,,,,OMIM ID:620486 | OMIM ID:600317 +BMGC_DS19704,BMG_DS076442,NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5882684,,,,,neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities,MONDO:0957583,,,neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities,DOID:0070513,,OMIM ID:600812 | OMIM ID:620489 +BMGC_DS19705,BMG_DS076443,SPERMATOGENIC FAILURE 85,UMLS ID:C5882685,,,,,spermatogenic failure 85,MONDO:0957584,,,spermatogenic failure 85,DOID:0070584,,OMIM ID:612739 | OMIM ID:620490 +BMGC_DS19706,BMG_DS076444,"NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES",UMLS ID:C5882686,,,,,"neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies",MONDO:0957588,,,,,,OMIM ID:620494 | OMIM ID:616472 +BMGC_DS19707,BMG_DS076445,SPERMATOGENIC FAILURE 87,UMLS ID:C5882687,,,,,spermatogenic failure 87,MONDO:0957594,,,spermatogenic failure 87,DOID:0070586,,OMIM ID:620500 | OMIM ID:102480 +BMGC_DS19708,BMG_DS076446,ZIEGLER-HUANG SYNDROME,UMLS ID:C5882688,,,,,Ziegler-Huang syndrome,MONDO:0957595,,,,,,OMIM ID:611149 | OMIM ID:620501 +BMGC_DS19709,BMG_DS076447,NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES,UMLS ID:C5882689,,,,,neurodevelopmental disorder with language delay and variable cognitive abnormalities,MONDO:0957779,,,,,,OMIM ID:603540 | OMIM ID:620502 +BMGC_DS19710,BMG_DS076448,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111,UMLS ID:C5882690,,,,,developmental and epileptic encephalopathy 111,MONDO:0957780,,,,,,OMIM ID:614191 | OMIM ID:620504 +BMGC_DS19711,BMG_DS076449,ICHTHYOSIS WITH ERYTHROKERATODERMA,UMLS ID:C5882691,,,,,ichthyosis with erythrokeratoderma,MONDO:0957783,,,,,,OMIM ID:620507 | OMIM ID:604434 +BMGC_DS19712,BMG_DS076450,XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME,UMLS ID:C5882692,,,,,xerosis and growth failure with immune and pulmonary dysfunction syndrome,MONDO:0957786,,,,,,OMIM ID:620510 +BMGC_DS19713,BMG_DS076451,FLIEDNER-ZWEIER SYNDROME,UMLS ID:C5882693,,,,,Fliedner-Zweier syndrome,MONDO:0957787,,,,,,OMIM ID:616023 | OMIM ID:620511 +BMGC_DS19714,BMG_DS076452,"SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT",UMLS ID:C5882694,,,,,"spastic paraplegia 18a, autosomal dominant",MONDO:0957788,,,,,,OMIM ID:611605 | OMIM ID:620512 +BMGC_DS19715,BMG_DS076453,"NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION",UMLS ID:C5882695,,,,,"neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction",MONDO:0957791,,,,,,OMIM ID:602777 | OMIM ID:620515 +BMGC_DS19716,BMG_DS076454,ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES,UMLS ID:C5882696,,,,,arrhythmogenic cardiomyopathy with variable ectodermal abnormalities,MONDO:0957795,,,,,,OMIM ID:620519 | OMIM ID:607463 +BMGC_DS19717,BMG_DS076455,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11",UMLS ID:C5882697,,,,,"neuronopathy, distal hereditary motor, autosomal dominant 11",MONDO:0957875,,,autosomal dominant distal hereditary motor neuronopathy 11,DOID:0081400,,OMIM ID:620528 | OMIM ID:182810 +BMGC_DS19718,BMG_DS076456,"DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES",UMLS ID:C5882698,,,,,"developmental delay, dysmorphic facies, and brain anomalies",MONDO:0957810,,,"developmental delay, dysmorphic facies, and brain anomalies",DOID:0060933,,OMIM ID:191318 | OMIM ID:620535 +BMGC_DS19719,BMG_DS076457,"ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE",UMLS ID:C5882699,,,,,"Alport syndrome 3b, autosomal recessive",MONDO:0957811,,,,,,OMIM ID:120070 | OMIM ID:620536 +BMGC_DS19720,BMG_DS076458,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112,UMLS ID:C5882700,,,,,developmental and epileptic encephalopathy 112,MONDO:0957812,,,,,,OMIM ID:620537 +BMGC_DS19721,BMG_DS076459,"SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA",UMLS ID:C5882701,,,,,"spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia",MONDO:0957813,,,,,,OMIM ID:182810 | OMIM ID:620538 +BMGC_DS19722,BMG_DS076460,DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY,UMLS ID:C5882702,,,,,developmental delay with or without epilepsy,MONDO:0957815,,,,,,OMIM ID:620540 +BMGC_DS19723,BMG_DS076461,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10",UMLS ID:C5882703,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 10",MONDO:0957876,,,autosomal recessive distal hereditary motor neuronopathy 10,DOID:0081429,,OMIM ID:620542 | OMIM ID:602168 +BMGC_DS19724,BMG_DS076462,"ARTHROGRYPOSIS, DISTAL, TYPE 12",UMLS ID:C5882704,,,,,"arthrogryposis, distal, type 12",MONDO:0957819,,,,,,OMIM ID:607509 | OMIM ID:620545 +BMGC_DS19725,BMG_DS076463,"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb",UMLS ID:C5882705,,,,,"congenital disorder of glycosylation, type IIbb",MONDO:0957820,,,,,,OMIM ID:606975 | OMIM ID:620546 +BMGC_DS19726,BMG_DS076464,SPERMATOGENIC FAILURE 88,UMLS ID:C5882706,,,,,spermatogenic failure 88,MONDO:0957821,,,spermatogenic failure 88,DOID:0070587,,OMIM ID:618125 | OMIM ID:620547 +BMGC_DS19727,BMG_DS076465,PREMATURE OVARIAN FAILURE 22,UMLS ID:C5882707,,,,,premature ovarian failure 22,MONDO:0957822,,,,,,OMIM ID:620548 | OMIM ID:618125 +BMGC_DS19728,BMG_DS076466,OPTIC ATROPHY 14,UMLS ID:C5882708,,,,,optic atrophy 14,MONDO:0957824,,,,,,OMIM ID:620550 | OMIM ID:615497 +BMGC_DS19729,BMG_DS076467,"DEAFNESS, AUTOSOMAL RECESSIVE 121",UMLS ID:C5882709,,,,,"hearing loss, autosomal recessive 121",MONDO:0957825,,,,,,OMIM ID:610464 | OMIM ID:620551 +BMGC_DS19730,BMG_DS076468,CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA,UMLS ID:C5882710,,,,,craniometadiaphyseal osteosclerosis with hip dysplasia,MONDO:0957832,,,,,,OMIM ID:603816 | OMIM ID:620558 +BMGC_DS19731,BMG_DS076469,IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION,UMLS ID:C5882711,,,,,immunodeficiency 113 with autoimmunity and autoinflammation,MONDO:0957920,,,,,,OMIM ID:604227 | OMIM ID:620565 +BMGC_DS19732,BMG_DS076470,CORNELIA DE LANGE SYNDROME 6,UMLS ID:C5882712,,,,,Cornelia de Lange syndrome 6,MONDO:0957921,,,Cornelia de Lange syndrome 6,DOID:0060970,,OMIM ID:608749 | OMIM ID:620568 +BMGC_DS19733,BMG_DS076471,"LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2",UMLS ID:C5882713,,,,,"Leber-like hereditary optic neuropathy, autosomal recessive 2",MONDO:0958197,,,,,,OMIM ID:602985 | OMIM ID:620569 +BMGC_DS19734,BMG_DS076472,"CILIARY DYSKINESIA, PRIMARY, 52",UMLS ID:C5882714,,,,,"ciliary dyskinesia, primary, 52",MONDO:0957922,,,,,,OMIM ID:620570 +BMGC_DS19735,BMG_DS076473,OTOSCLEROSIS 11,UMLS ID:C5882715,,,,,otosclerosis 11,MONDO:0957928,,,otosclerosis 11,DOID:0060928,,OMIM ID:603252 | OMIM ID:620576 +BMGC_DS19736,BMG_DS076474,OPTIC ATROPHY 15,UMLS ID:C5882716,,,,,optic atrophy 15,MONDO:0957935,,,,,,OMIM ID:614479 | OMIM ID:620583 +BMGC_DS19737,BMG_DS076475,GARG-MISHRA PROGEROID SYNDROME,UMLS ID:C5882717,,,,,Garg-Mishra progeroid syndrome,MONDO:0957953,,,,,,OMIM ID:620601 | OMIM ID:607980 +BMGC_DS19738,BMG_DS076476,,UMLS ID:C5882718,,,,,lymphatic malformation 14,MONDO:0957954,,,,,,OMIM ID:620602 +BMGC_DS19739,BMG_DS076477,"IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE",UMLS ID:C5882719,,,,,"immunodeficiency 114, folate-responsive",MONDO:0957955,,,,,,OMIM ID:620603 | OMIM ID:600424 +BMGC_DS19740,BMG_DS076478,"SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE",UMLS ID:C5882720,,,,,"spastic paraplegia 72b, autosomal recessive",MONDO:0957958,,,,,,OMIM ID:609347 | OMIM ID:620606 +BMGC_DS19741,BMG_DS076479,LONG-OLSEN-DISTELMAIER SYNDROME,UMLS ID:C5882721,,,,,Long-Olsen-Distelmaier syndrome,MONDO:0957960,,,,,,OMIM ID:608267 | OMIM ID:620609 +BMGC_DS19742,BMG_DS076480,OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21,UMLS ID:C5882722,,,,,oocyte/zygote/embryo maturation arrest 21,MONDO:0957961,,,,,,OMIM ID:603078 | OMIM ID:620610 +BMGC_DS19743,BMG_DS076481,OPTIC ATROPHY 16,UMLS ID:C5882723,,,,,optic atrophy 16,MONDO:0957978,,,,,,OMIM ID:608205 | OMIM ID:620629 +BMGC_DS19744,BMG_DS076482,IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION,UMLS ID:C5882724,,,,,immunodeficiency 115 with autoinflammation,MONDO:0957981,,,,,,OMIM ID:620632 | OMIM ID:612487 +BMGC_DS19745,BMG_DS076483,"CARDIOMYOPATHY, DILATED, 2J",UMLS ID:C5882725,,,,,"cardiomyopathy, dilated, 2j",MONDO:0957984,,,,,,OMIM ID:600362 | OMIM ID:620635 +BMGC_DS19746,BMG_DS076484,"NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE",UMLS ID:C5882726,,,,,"neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline",MONDO:0957985,,,,,,OMIM ID:601178 | OMIM ID:620636 +BMGC_DS19747,BMG_DS076485,TAN-ALMURSHEDI SYNDROME,UMLS ID:C5882727,,,,,Tan-Almurshedi syndrome,MONDO:0957990,,,,,,OMIM ID:603952 | OMIM ID:620641 +BMGC_DS19748,BMG_DS076486,"CILIARY DYSKINESIA, PRIMARY, 53",UMLS ID:C5882728,,,,,"ciliary dyskinesia, primary, 53",MONDO:0957991,,,,,,OMIM ID:620642 | OMIM ID:619564 +BMGC_DS19749,BMG_DS076487,COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59,UMLS ID:C5882730,,,,,combined oxidative phosphorylation deficiency 59,MONDO:0957992,,,,,,OMIM ID:620646 | OMIM ID:611845 +BMGC_DS19750,BMG_DS076488,"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6",UMLS ID:C5882731,,,,,"progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6",MONDO:0957993,,,,,,OMIM ID:620647 +BMGC_DS19751,BMG_DS076489,"DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME",UMLS ID:C5882732,,,,,"diabetes, deafness, developmental delay, and short stature syndrome",MONDO:0957997,,,,,,OMIM ID:601916 | OMIM ID:620651 +BMGC_DS19752,BMG_DS076490,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY",UMLS ID:C5882733,,,,,"intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly",MONDO:0957999,,,,,,OMIM ID:600639 | OMIM ID:620653 +BMGC_DS19753,BMG_DS076491,THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES,UMLS ID:C5882734,,,,,thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies,MONDO:0958000,,,,,,OMIM ID:179530 | OMIM ID:620654 +BMGC_DS19754,BMG_DS076492,ALFADHEL SYNDROME,UMLS ID:C5882735,,,,,Alfadhel syndrome,MONDO:0958001,,,,,,OMIM ID:179502 | OMIM ID:620655 +BMGC_DS19755,BMG_DS076493,HOXHA-ALIU SYNDROME,UMLS ID:C5882736,,,,,Hoxha-Aliu syndrome,MONDO:0958005,,,,,,OMIM ID:620662 | OMIM ID:608739 +BMGC_DS19756,BMG_DS076494,"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE",UMLS ID:C5882737,,,,,"spondyloepimetaphyseal dysplasia, Guo-Campeau type",MONDO:0958006,,,,,,OMIM ID:608739 | OMIM ID:620663 +BMGC_DS19757,BMG_DS076495,"SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE",UMLS ID:C5882738,,,,,"spastic ataxia 10, autosomal recessive",MONDO:0958009,,,,,,OMIM ID:612898 | OMIM ID:620666 +BMGC_DS19758,BMG_DS076496,IMMUNODEFICIENCY 117,UMLS ID:C5882739,,,,,immunodeficiency 117,MONDO:0958011,,,,,,OMIM ID:147575 | OMIM ID:620668 +BMGC_DS19759,BMG_DS076497,NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9,UMLS ID:C5882740,,,,,neurodegeneration with brain iron accumulation 9,MONDO:0958012,,,,,,OMIM ID:134770 | OMIM ID:620669 +BMGC_DS19760,BMG_DS076498,"IMMUNODEFICIENCY, COMMON VARIABLE, 15",UMLS ID:C5882741,,,,,"immunodeficiency, common variable, 15",MONDO:0958013,,,,,,OMIM ID:620670 | OMIM ID:609213 +BMGC_DS19761,BMG_DS076499,"NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT",UMLS ID:C5882742,,,,,"neutropenia, severe congenital, 11, autosomal dominant",MONDO:0958017,,,,,,OMIM ID:609213 | OMIM ID:620674 +BMGC_DS19762,BMG_DS076500,"LEUKODYSTROPHY, HYPOMYELINATING, 27",UMLS ID:C5882743,,,,,"leukodystrophy, hypomyelinating, 27",MONDO:0958018,,,,,,OMIM ID:616404 | OMIM ID:620675 +BMGC_DS19763,BMG_DS076501,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8",UMLS ID:C5882744,,,,,"lipodystrophy, familial partial, type 8",MONDO:0958022,,,,,,OMIM ID:104210 | OMIM ID:620679 +BMGC_DS19764,BMG_DS076502,"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5",UMLS ID:C5882745,,,,,"lipodystrophy, congenital generalized, type 5",MONDO:0958023,,,,,,OMIM ID:123695 | OMIM ID:620680 +BMGC_DS19765,BMG_DS076503,"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9",UMLS ID:C5882746,,,,,"lipodystrophy, familial partial, type 9",MONDO:0958034,,,,,,OMIM ID:620683 | OMIM ID:613867 +BMGC_DS19766,BMG_DS076504,PREMATURE OVARIAN FAILURE 23,UMLS ID:C5882747,,,,,premature ovarian failure 23,MONDO:0958035,,,,,,OMIM ID:617670 | OMIM ID:620686 +BMGC_DS19767,BMG_DS076505,MOYAMOYA DISEASE 7,UMLS ID:C5882748,,,,,moyamoya disease 7,MONDO:0958202,,,,,,OMIM ID:610108 | OMIM ID:620687 +BMGC_DS19768,BMG_DS076506,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74",UMLS ID:C5882749,,,,,"intellectual developmental disorder, autosomal dominant 74",MONDO:0958203,,,,,,OMIM ID:164020 | OMIM ID:620688 +BMGC_DS19769,BMG_DS076507,DEVELOPMENTAL DYSPLASIA OF THE HIP 3,UMLS ID:C5882750,,,,,developmental dysplasia of the hip 3,MONDO:0958037,,,,,,OMIM ID:107770 | OMIM ID:620690 +BMGC_DS19770,BMG_DS076508,YUKSEL-VOGEL-BAUER SYNDROME,UMLS ID:C5882751,,,,,Yuksel-Vogel-Bauer syndrome,MONDO:0958205,,,,,,OMIM ID:620703 | OMIM ID:604090 +BMGC_DS19771,BMG_DS076509,SPERMATOGENIC FAILURE 89,UMLS ID:C5882752,,,,,spermatogenic failure 89,MONDO:0958206,,,spermatogenic failure 89,DOID:0070588,,OMIM ID:615358 | OMIM ID:620705 +BMGC_DS19772,BMG_DS076510,"EPIDERMOLYTIC HYPERKERATOSIS 2B, AUTOSOMAL RECESSIVE",UMLS ID:C5882753,,,,,"epidermolytic hyperkeratosis 2B, autosomal recessive",MONDO:0700245,,,,,,OMIM ID:148080 | OMIM ID:620707 +BMGC_DS19773,BMG_DS076511,POLYDACTYLY-MACROCEPHALY SYNDROME,UMLS ID:C5882754,,,,,polydactyly-macrocephaly syndrome,MONDO:0958227,,,,,,OMIM ID:154950 | OMIM ID:620712 +BMGC_DS19774,BMG_DS076512,SPERMATOGENIC FAILURE 86,UMLS ID:C5882755,,,,,spermatogenic failure 86,MONDO:0957593,,,spermatogenic failure 86,DOID:0070585,,OMIM ID:604303 | OMIM ID:620499 +BMGC_DS19775,BMG_DS076513,"NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE",UMLS ID:C5882756,,,,,"neutropenia, severe congenital, 10, autosomal recessive",MONDO:0957809,,,,,,OMIM ID:604858 | OMIM ID:620534 +BMGC_DS19776,BMG_DS076514,"OSTEOGENESIS IMPERFECTA, TYPE XXIII",UMLS ID:C5882757,,,,,"osteogenesis imperfecta, type 23",MONDO:0957988,,,,,,OMIM ID:612834 | OMIM ID:620639 +BMGC_DS19777,BMG_DS076515,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81",UMLS ID:C5882758,,,,,"intellectual developmental disorder, autosomal recessive 81",MONDO:0958204,,,,,,OMIM ID:614217 | OMIM ID:620700 +BMGC_DS19778,BMG_DS076542,"AMELOGENESIS IMPERFECTA, TYPE IIIA",UMLS ID:C5886770,,,,,"amelogenesis imperfecta, type 3A",MONDO:0007538,,,,,,OMIM ID:130900 | OMIM ID:611927 +BMGC_DS19779,BMG_DS076544,"Porphyria, Erythropoietic, Congenital",UMLS ID:C5886774,,,,,cutaneous porphyria,MONDO:0009902,"Porphyria, Erythropoietic",MeSH ID:D017092,,,,OMIM ID:263700 +BMGC_DS19780,BMG_DS076545,MICROPHTHALMIA/COLOBOMA 12,UMLS ID:C5886785,,,,,"coloboma, ocular, autosomal dominant",MONDO:0007350,,,,,,OMIM ID:120200 | OMIM ID:607108 +BMGC_DS19781,BMG_DS076555,Listeria monocytogenes Infections,UMLS ID:C5886852,,,,,,,Listeriosis,MeSH ID:D008088,,,, +BMGC_DS19782,BMG_DS076568,"HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2",UMLS ID:C5887323,,,,,X-linked congenital generalized hypertrichosis,MONDO:0010614,,,,,,OMIM ID:307150 +BMGC_DS19783,BMG_DS076569,"GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL",UMLS ID:C5887324,,,,,short stature due to GHSR deficiency,MONDO:0014403,,,,,,OMIM ID:615925 | OMIM ID:601898 +BMGC_DS19784,BMG_DS076573,SPINOCEREBELLAR ATAXIA 47,UMLS ID:C5888376,,,,,,,,,cerebellar ataxia type 47,DOID:0111743,,OMIM ID:607204 | OMIM ID:617931 +BMGC_DS19785,BMG_DS076574,AURONEURODENTAL SYNDROME,UMLS ID:C5889721,,,,,auroneurodental syndrome,MONDO:0970998,,,,,,OMIM ID:607073 | OMIM ID:620830 +BMGC_DS19786,BMG_DS076576,,UMLS ID:C5889860,,,,,"hyperemesis gravidarum, susceptibility to",MONDO:0958238,,,,,,OMIM ID:620730 +BMGC_DS19787,BMG_DS076577,"Albinism, Partial",UMLS ID:C5890906,,,,,,,Piebaldism,MeSH ID:D016116,,,, +BMGC_DS19788,BMG_DS076578,Blastomyces dermatitidis Infection,UMLS ID:C5890966,,,,,,,Blastomycosis,MeSH ID:D001759,,,, +BMGC_DS19789,BMG_DS077374,"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC",UMLS ID:C5935566,,,,,,,,,Ullrich congenital muscular dystrophy 1A | Ullrich congenital muscular dystrophy 1B,DOID:0060946;DOID:0060942,,OMIM ID:254090 | OMIM ID:620727 +BMGC_DS19790,BMG_DS077375,"INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37",UMLS ID:C5935567,,,,,"intellectual developmental disorder, x-linked, syndromic 37",MONDO:0958322,,,,,,OMIM ID:314980 | OMIM ID:301118 +BMGC_DS19791,BMG_DS077376,"SPERMATOGENIC FAILURE, X-LINKED, 8",UMLS ID:C5935568,,,,,"spermatogenic failure, x-linked, 8",MONDO:0970943,,,X-linked spermatogenic failure 8,DOID:0070599,,OMIM ID:301119 +BMGC_DS19792,BMG_DS077377,,UMLS ID:C5935569,,,,,"prostate cancer, hereditary, X-linked 3",MONDO:0971170,,,,,,OMIM ID:301120 +BMGC_DS19793,BMG_DS077378,"SPASTIC PARAPLEGIA 30B, AUTOSOMAL RECESSIVE",UMLS ID:C5935571,,,,,"spastic paraplegia 30b, autosomal recessive",MONDO:0971149,,,,,,OMIM ID:601255 | OMIM ID:620607 +BMGC_DS19794,BMG_DS077379,"AMYLOIDOSIS, HEREDITARY SYSTEMIC 5",UMLS ID:C5935572,,,,,"amyloidosis, hereditary systemic 5",MONDO:0971009,,,,,,OMIM ID:153450 | OMIM ID:620658 +BMGC_DS19795,BMG_DS077380,"AMYLOIDOSIS, HEREDITARY SYSTEMIC 6",UMLS ID:C5935573,,,,,"amyloidosis, hereditary systemic 6",MONDO:0971010,,,,,,OMIM ID:109700 | OMIM ID:620659 +BMGC_DS19796,BMG_DS077381,"ENCEPHALOPATHY, PORPHYRIA-RELATED",UMLS ID:C5935574,,,,,"encephalopathy, porphyria-related",MONDO:0958224,,,,,,OMIM ID:609806 | OMIM ID:620704 +BMGC_DS19797,BMG_DS077382,"LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED",UMLS ID:C5935575,,,,,"leukoencephalopathy, porphyria-related",MONDO:0958226,,,,,,OMIM ID:609806 | OMIM ID:620711 +BMGC_DS19798,BMG_DS077383,"DEAFNESS, AUTOSOMAL RECESSIVE 122",UMLS ID:C5935576,,,,,"hearing loss, autosomal recessive 122",MONDO:0958228,,,,,,OMIM ID:618203 | OMIM ID:620714 +BMGC_DS19799,BMG_DS077384,"BLEEDING DISORDER, VASCULAR-TYPE",UMLS ID:C5935577,,,,,"bleeding disorder, vascular-type",MONDO:0958229,,,,,,OMIM ID:612456 | OMIM ID:620715 +BMGC_DS19800,BMG_DS077385,OROFACIODIGITAL SYNDROME XX,UMLS ID:C5935578,,,,,orofaciodigital syndrome 20,MONDO:0958230,,,orofaciodigital syndrome XX,DOID:0060962,,OMIM ID:620718 | OMIM ID:610917 +BMGC_DS19801,BMG_DS077386,"DEAFNESS, AUTOSOMAL DOMINANT 90",UMLS ID:C5935579,,,,,"hearing loss, autosomal dominant 90",MONDO:0958232,,,autosomal dominant nonsyndromic deafness 90,DOID:0070607,,OMIM ID:620722 | OMIM ID:606808 +BMGC_DS19802,BMG_DS077387,BETHLEM MYOPATHY 1B,UMLS ID:C5935580,,,,,Bethlem myopathy 1B,MONDO:0958233,,,,,,OMIM ID:620725 +BMGC_DS19803,BMG_DS077388,BETHLEM MYOPATHY 1C,UMLS ID:C5935581,,,,,Bethlem myopathy 1C,MONDO:0958234,,,,,,OMIM ID:620726 +BMGC_DS19804,BMG_DS077389,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B,UMLS ID:C5935582,,,,,Ullrich congenital muscular dystrophy 1B,MONDO:0958235,,,Ullrich congenital muscular dystrophy 1B,DOID:0060942,,OMIM ID:620727 +BMGC_DS19805,BMG_DS077390,ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C,UMLS ID:C5935583,,,,,Ullrich congenital muscular dystrophy 1C,MONDO:0958236,,,Ullrich congenital muscular dystrophy 1C,DOID:0060943,,OMIM ID:620728 +BMGC_DS19806,BMG_DS077391,MICROPHTHALMIA/COLOBOMA 11,UMLS ID:C5935584,,,,,microphthalmia/coloboma 11,MONDO:0958239,,,,,,OMIM ID:601723 | OMIM ID:620731 +BMGC_DS19807,BMG_DS077392,"NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES",UMLS ID:C5935585,,,,,"neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities",MONDO:0958240,,,,,,OMIM ID:609763 | OMIM ID:620732 +BMGC_DS19808,BMG_DS077393,"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL",UMLS ID:C5935586,,,,,"cardiomyopathy, familial hypertrophic, 30, atrial",MONDO:0958241,,,,,,OMIM ID:605236 | OMIM ID:620734 +BMGC_DS19809,BMG_DS077394,SPERMATOGENIC FAILURE 90,UMLS ID:C5935587,,,,,spermatogenic failure 90,MONDO:0958242,,,spermatogenic failure 90,DOID:0070589,,OMIM ID:620744 | OMIM ID:620377 +BMGC_DS19810,BMG_DS077395,"DEAFNESS, AUTOSOMAL RECESSIVE 123",UMLS ID:C5935588,,,,,"hearing loss, autosomal recessive 123",MONDO:0958277,,,,,,OMIM ID:186591 | OMIM ID:620745 +BMGC_DS19811,BMG_DS077396,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES,UMLS ID:C5935589,,,,,neurodevelopmental disorder with hypotonia and characteristic brain abnormalities,MONDO:0958278,,,,,,OMIM ID:605556 | OMIM ID:620746 +BMGC_DS19812,BMG_DS077397,NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES,UMLS ID:C5935590,,,,,neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities,MONDO:0958323,,,,,,OMIM ID:617342 | OMIM ID:620747 +BMGC_DS19813,BMG_DS077398,MEGALENCEPHALY-POLYDACTYLY SYNDROME,UMLS ID:C5935591,,,,,megalencephaly-polydactyly syndrome,MONDO:0958279,,,,,,OMIM ID:620748 | OMIM ID:164840 +BMGC_DS19814,BMG_DS077399,"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12",UMLS ID:C5935592,,,,,"generalized epilepsy with febrile seizures plus, type 12",MONDO:0958324,,,,,,OMIM ID:620755 | OMIM ID:616440 +BMGC_DS19815,BMG_DS077400,THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY,UMLS ID:C5935593,,,,,thrombocytopenia 12 with or without myopathy,MONDO:0958325,,,,,,OMIM ID:620757 +BMGC_DS19816,BMG_DS077401,MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION,UMLS ID:C5935594,,,,,macular dystrophy with or without cone dysfunction,MONDO:0958326,,,,,,OMIM ID:620493 | OMIM ID:620762 +BMGC_DS19817,BMG_DS077402,SECKEL SYNDROME 11,UMLS ID:C5935595,,,,,Seckel syndrome 11,MONDO:0958328,,,,,,OMIM ID:617728 | OMIM ID:620767 +BMGC_DS19818,BMG_DS077403,JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5935596,,,,,Jeffries-Lakhani neurodevelopmental syndrome,MONDO:0958329,,,,,,OMIM ID:607170 | OMIM ID:620771 +BMGC_DS19819,BMG_DS077404,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113,UMLS ID:C5935597,,,,,developmental and epileptic encephalopathy 113,MONDO:0958330,,,,,,OMIM ID:185860 | OMIM ID:620772 +BMGC_DS19820,BMG_DS077405,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114,UMLS ID:C5935598,,,,,developmental and epileptic encephalopathy 114,MONDO:0958331,,,,,,OMIM ID:620774 | OMIM ID:616440 +BMGC_DS19821,BMG_DS077406,"THROMBOCYTOPENIA 13, SYNDROMIC",UMLS ID:C5935599,,,,,"thrombocytopenia 13, syndromic",MONDO:0958333,,,,,,OMIM ID:606953 | OMIM ID:620776 +BMGC_DS19822,BMG_DS077407,"PULMONARY HYPERTENSION, PRIMARY, 6",UMLS ID:C5935600,,,,,"pulmonary hypertension, primary, 6",MONDO:0958334,,,,,,OMIM ID:114170 | OMIM ID:620777 +BMGC_DS19823,BMG_DS077408,"INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82",UMLS ID:C5935601,,,,,"intellectual developmental disorder, autosomal recessive 82",MONDO:0968944,,,autosomal recessive intellectual developmental disorder 82,DOID:0060947,,OMIM ID:617199 | OMIM ID:620779 +BMGC_DS19824,BMG_DS077409,"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID",UMLS ID:C5935602,,,,,"cutis laxa, autosomal recessive, type 1d",MONDO:0958335,,,,,,OMIM ID:620780 | OMIM ID:601548 +BMGC_DS19825,BMG_DS077410,"NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER",UMLS ID:C5935603,,,,,"neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder",MONDO:0968945,,,,,,OMIM ID:620782 | OMIM ID:601178 +BMGC_DS19826,BMG_DS077411,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115,UMLS ID:C5935604,,,,,developmental and epileptic encephalopathy 115,MONDO:0968946,,,,,,OMIM ID:610904 | OMIM ID:620783 +BMGC_DS19827,BMG_DS077412,NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY,UMLS ID:C5935605,,,,,neurodevelopmental disorder plus optic atrophy,MONDO:0968947,,,,,,OMIM ID:610904 | OMIM ID:620784 +BMGC_DS19828,BMG_DS077413,NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES,UMLS ID:C5935606,,,,,neurodevelopmental disorder with progressive movement abnormalities,MONDO:0968976,,,,,,OMIM ID:616352 | OMIM ID:620785 +BMGC_DS19829,BMG_DS077414,"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE",UMLS ID:C5935607,,,,,"basal ganglia calcification, idiopathic, 9, autosomal recessive",MONDO:0968977,,,,,,OMIM ID:614246 | OMIM ID:620786 +BMGC_DS19830,BMG_DS077415,APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME,UMLS ID:C5935608,,,,,aplasia cutis-enamel dysplasia syndrome,MONDO:0968978,,,,,,OMIM ID:620789 | OMIM ID:601575 +BMGC_DS19831,BMG_DS077416,NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES,UMLS ID:C5935609,,,,,neurodevelopmental disorder with hypotonia and seizures,MONDO:0968979,,,,,,OMIM ID:612024 | OMIM ID:620790 +BMGC_DS19832,BMG_DS077417,OTOSCLEROSIS 12,UMLS ID:C5935610,,,,,otosclerosis 12,MONDO:0968980,,,,,,OMIM ID:603254 | OMIM ID:620792 +BMGC_DS19833,BMG_DS077418,"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 29",UMLS ID:C5935611,,,,,"muscular dystrophy, limb-girdle, autosomal recessive 29",MONDO:0971171,,,,,,OMIM ID:607902 | OMIM ID:620793 +BMGC_DS19834,BMG_DS077419,"DEAFNESS, AUTOSOMAL RECESSIVE 124",UMLS ID:C5935612,,,,,autosomal recessive nonsyndromic hearing loss 124,MONDO:0968981,,,,,,OMIM ID:620794 | OMIM ID:607843 +BMGC_DS19835,BMG_DS077420,AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION,UMLS ID:C5935613,,,,,autoinflammation with episodic fever and immune dysregulation,MONDO:0968982,,,,,,OMIM ID:620795 | OMIM ID:611885 +BMGC_DS19836,BMG_DS077421,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6,UMLS ID:C5935614,,,,,proteasome-associated autoinflammatory syndrome 6,MONDO:0968983,,,,,,OMIM ID:177045 | OMIM ID:620796 +BMGC_DS19837,BMG_DS077422,DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116,UMLS ID:C5935615,,,,,developmental and epileptic encephalopathy 116,MONDO:0970945,,,developmental and epileptic encephalopathy 116,DOID:0070545,,OMIM ID:138290 | OMIM ID:620806 +BMGC_DS19838,BMG_DS077423,IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION,UMLS ID:C5935616,,,,,immunodeficiency 121 with autoinflammation,MONDO:0971001,,,,,,OMIM ID:176847 | OMIM ID:620807 +BMGC_DS19839,BMG_DS077424,MHC CLASS I DEFICIENCY 2,UMLS ID:C5935617,,,,,MHC class I deficiency 2,MONDO:0971011,,,,,,OMIM ID:620813 | OMIM ID:170261 +BMGC_DS19840,BMG_DS077425,MHC CLASS I DEFICIENCY 3,UMLS ID:C5935618,,,,,MHC class I deficiency 3,MONDO:0971012,,,,,,OMIM ID:620814 +BMGC_DS19841,BMG_DS077426,"ROTHMUND-THOMSON SYNDROME, TYPE 4",UMLS ID:C5935619,,,,,"Rothmund-Thomson syndrome, type 4",MONDO:0970950,,,,,,OMIM ID:601810 | OMIM ID:620819 +BMGC_DS19842,BMG_DS077427,EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5935620,,,,,El Hayek-Chahrour neurodevelopmental disorder,MONDO:0970951,,,,,,OMIM ID:180202 | OMIM ID:620820 +BMGC_DS19843,BMG_DS077428,IMMUNODEFICIENCY 119,UMLS ID:C5935621,,,,,immunodeficiency 119,MONDO:0970993,,,,,,OMIM ID:605717 | OMIM ID:620825 +BMGC_DS19844,BMG_DS077429,IMMUNODEFICIENCY 120,UMLS ID:C5935622,,,,,immunodeficiency 120,MONDO:0970994,,,,,,OMIM ID:620836 | OMIM ID:174761 +BMGC_DS19845,BMG_DS077430,SPERMATOGENIC FAILURE 91,UMLS ID:C5935623,,,,,spermatogenic failure 91,MONDO:0970952,,,spermatogenic failure 91,DOID:0070590,,OMIM ID:620838 | OMIM ID:603960 +BMGC_DS19846,BMG_DS077431,PREMATURE OVARIAN FAILURE 24,UMLS ID:C5935624,,,,,premature ovarian failure 24,MONDO:0970995,,,,,,OMIM ID:616799 | OMIM ID:620840 +BMGC_DS19847,BMG_DS077432,SPERMATOGENIC FAILURE 92,UMLS ID:C5935625,,,,,spermatogenic failure 92,MONDO:0970999,,,spermatogenic failure 92,DOID:0070591,,OMIM ID:620708 | OMIM ID:620848 +BMGC_DS19848,BMG_DS077433,SPERMATOGENIC FAILURE 93,UMLS ID:C5935626,,,,,spermatogenic failure 93,MONDO:0971000,,,spermatogenic failure 93,DOID:0070592,,OMIM ID:607670 | OMIM ID:620849 +BMGC_DS19849,BMG_DS077434,SPERMATOGENIC FAILURE 94,UMLS ID:C5935627,,,,,spermatogenic failure 94,MONDO:0971002,,,spermatogenic failure 94,DOID:0070593,,OMIM ID:620850 | OMIM ID:619829 +BMGC_DS19850,BMG_DS077435,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE",UMLS ID:C5935628,,,,,"neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language",MONDO:0971172,,,,,,OMIM ID:620823 | OMIM ID:620851 +BMGC_DS19851,BMG_DS077436,"NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES",UMLS ID:C5935629,,,,,"neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities",MONDO:0971043,,,,,,OMIM ID:604981 | OMIM ID:620852 +BMGC_DS19852,BMG_DS077437,"NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 11, WITH SPASTICITY",UMLS ID:C5935630,,,,,"neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity",MONDO:0971150,,,,,,OMIM ID:620854 | OMIM ID:603183 +BMGC_DS19853,BMG_DS077438,"EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3",UMLS ID:C5935631,,,,,"Ehlers-Danlos syndrome, classic-like, 3",MONDO:0971044,,,,,,OMIM ID:620865 | OMIM ID:188061 +BMGC_DS19854,BMG_DS077439,IMMUNODEFICIENCY 122,UMLS ID:C5935632,,,,,immunodeficiency 122,MONDO:0971151,,,,,,OMIM ID:611415 | OMIM ID:620869 +BMGC_DS19855,BMG_DS077440,"DEAFNESS, AUTOSOMAL RECESSIVE 125",UMLS ID:C5935633,,,,,"hearing loss, autosomal recessive 125",MONDO:0971152,,,,,,OMIM ID:602835 | OMIM ID:620877 +BMGC_DS19856,BMG_DS077441,AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS,UMLS ID:C5935634,,,,,autoinflammation with arthritis and vasculitis,MONDO:0971173,,,,,,OMIM ID:604834 | OMIM ID:620880 +BMGC_DS19857,BMG_DS077442,MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9B,UMLS ID:C5935635,,,,,multiple mitochondrial dysfunctions syndrome 9b,MONDO:0971174,,,,,,OMIM ID:103270 | OMIM ID:620887 +BMGC_DS19858,BMG_DS077443,"CARDIOMYOPATHY, DILATED, 2K",UMLS ID:C5935636,,,,,"cardiomyopathy, dilated, 2K",MONDO:0971175,,,,,,OMIM ID:620894 | OMIM ID:614071 +BMGC_DS19859,BMG_DS077444,OVARIAN DYSGENESIS 11,UMLS ID:C5935637,,,,,ovarian dysgenesis 11,MONDO:0971176,,,,,,OMIM ID:618611 | OMIM ID:620897 +BMGC_DS19860,BMG_DS077445,IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS,UMLS ID:C5935639,,,,,immunodeficiency 123 with HPV-related verrucosis,MONDO:0971177,,,,,,OMIM ID:186760 | OMIM ID:620901 +BMGC_DS19861,BMG_DS077446,POLYCYSTIC KIDNEY DISEASE 8,UMLS ID:C5935640,,,,,polycystic kidney disease 8,MONDO:0971178,,,,,,OMIM ID:609799 | OMIM ID:620903 +BMGC_DS19862,BMG_DS077447,ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME,UMLS ID:C5935641,,,,,arterial tortuosity-bone fragility syndrome,MONDO:0971179,,,,,,OMIM ID:130660 | OMIM ID:620908 +BMGC_DS19863,BMG_DS077448,OTOFACIAL NEURODEVELOPMENTAL SYNDROME,UMLS ID:C5935642,,,,,otofacial neurodevelopmental syndrome,MONDO:0975705,,,,,,OMIM ID:618365 | OMIM ID:620910 +BMGC_DS19864,BMG_DS077449,"NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES",UMLS ID:C5935643,,,,,"neuromuscular disorder, congenital, with dysmorphic facies",MONDO:0958332,,,,,,OMIM ID:607307 | OMIM ID:620775 +BMGC_DS19865,BMG_DS077473,SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND IMPAIRED INTELLECTUAL DEVELOPMENT,UMLS ID:C5935682,,,,,spinal muscular atrophy with microcephaly and mental subnormality,MONDO:0010055,,,,,,OMIM ID:271110 +BMGC_DS19866,BMG_DS077478,Plica polonica,UMLS ID:C5940798,,,,,,,Hair Diseases,MeSH ID:D006201,,,, +BMGC_DS19867,BMG_DS077479,ASM Deficiency,UMLS ID:C5940804,,,,,,,Niemann-Pick Diseases,MeSH ID:D009542,,,, +BMGC_DS19868,BMG_DS077480,Fulminant Intracranial Hypertension,UMLS ID:C5940805,,,,,,,Pseudotumor Cerebri,MeSH ID:D011559,,,, +BMGC_DS19869,BMG_DS077481,Secondary Intracranial Hypertension,UMLS ID:C5940806,,,,,,,Pseudotumor Cerebri,MeSH ID:D011559,,,, +BMGC_DS19870,BMG_DS077485,,,,,,,,,,MeSH ID:C000598645,myofibrillar myopathy 3,DOID:0080094,, +BMGC_DS19871,BMG_DS077486,,,,,,,,,,MeSH ID:C000656825,tinea barbae,DOID:0050096,, +BMGC_DS19872,BMG_DS077488,,,,,,,,,,MeSH ID:C535289,Rapp-Hodgkin syndrome,DOID:0060330,, +BMGC_DS19873,BMG_DS077489,,,,,,,,,,MeSH ID:C535323,chromosome 5q deletion syndrome,DOID:0090016,, +BMGC_DS19874,BMG_DS077490,,,,,,,,,,MeSH ID:C535378,distal arthrogryposis type 1A,DOID:0111597,, +BMGC_DS19875,BMG_DS077491,,,,,,,,,,MeSH ID:C535436,Bethlem myopathy,DOID:0050663,, +BMGC_DS19876,BMG_DS077492,,,,,,,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,MONDO:0020530,,MeSH ID:C535530,immunodeficiency 27A,DOID:0111955,, +BMGC_DS19877,BMG_DS077494,,,,,,,,,,MeSH ID:C535579,cardiofaciocutaneous syndrome,DOID:0060233,, +BMGC_DS19878,BMG_DS077495,,,,,,,,,,MeSH ID:C535594,NFIA-related disorder,DOID:0060409,, +BMGC_DS19879,BMG_DS077496,,,,,,,,,,MeSH ID:C535602,Doyne honeycomb retinal dystrophy,DOID:0060745,, +BMGC_DS19880,BMG_DS077497,,,,,,,,,,MeSH ID:C535661,"acromesomelic dysplasia, Maroteaux type",DOID:0080050,, +BMGC_DS19881,BMG_DS077498,,,,,,,,,,MeSH ID:C535668,adrenocorticotropic hormone deficiency,DOID:0080150,, +BMGC_DS19882,BMG_DS077499,,,,,,,rigid spine syndrome,MONDO:0019951,,MeSH ID:C535683,rigid spine muscular dystrophy 1,DOID:0110633,, +BMGC_DS19883,BMG_DS077500,,,,,,,,,,MeSH ID:C535788,spondyloepiphyseal dysplasia congenita,DOID:14789,, +BMGC_DS19884,BMG_DS077501,,,,,,,,,,MeSH ID:C535808,deafness-dystonia-optic neuronopathy syndrome,DOID:0050757,, +BMGC_DS19885,BMG_DS077502,,,,,,,,,,MeSH ID:C535811,molybdenum cofactor deficiency,DOID:0111165,, +BMGC_DS19886,BMG_DS077503,,,,,,,,,,MeSH ID:C535819,pseudoachondroplasia,DOID:0080047,, +BMGC_DS19887,BMG_DS077504,,,,,,,,,,MeSH ID:C535857,distal arthrogryposis type 7,DOID:0111603,, +BMGC_DS19888,BMG_DS077505,,,,,,,,,,MeSH ID:C535906,myofibrillar myopathy 3,DOID:0080094,, +BMGC_DS19889,BMG_DS077508,,,,,,,,,,MeSH ID:C536017,achondrogenesis type II,DOID:0080056,, +BMGC_DS19890,BMG_DS077509,,,,,,,,,,MeSH ID:C536038,medium chain acyl-CoA dehydrogenase deficiency,DOID:0080153,, +BMGC_DS19891,BMG_DS077510,,,,,,,"Mycobacterium tuberculosis, susceptibility",MONDO:0000070,,MeSH ID:C536092,,,,OMIM ID:607948 +BMGC_DS19892,BMG_DS077511,,,,,,,"Ehlers-Danlos syndrome, spondylodysplastic type",MONDO:0007526,,MeSH ID:C536201,,,, +BMGC_DS19893,BMG_DS077512,,,,,,,,,,MeSH ID:C536209,congenital central hypoventilation syndrome,DOID:0060731,, +BMGC_DS19894,BMG_DS077513,,,,,,,,,,MeSH ID:C536294,Joubert syndrome 2,DOID:0110988,, +BMGC_DS19895,BMG_DS077514,,,,,,,,,,MeSH ID:C536295,Joubert syndrome 3,DOID:0110998,, +BMGC_DS19896,BMG_DS077515,,,,,,,,,,MeSH ID:C536377,nonsyndromic congenital nail disorder 4,DOID:0080082,, +BMGC_DS19897,BMG_DS077516,,,,,,,,,,MeSH ID:C536464,Waardenburg syndrome type 2A,DOID:0110950,, +BMGC_DS19898,BMG_DS077517,,,,,,,fetal akinesia deformation sequence,MONDO:0008824,,MeSH ID:C536647,,,, +BMGC_DS19899,BMG_DS077518,,,,,,,,,,MeSH ID:C536709,Winchester syndrome,DOID:0080696,, +BMGC_DS19900,BMG_DS077519,,,,,,,,,,MeSH ID:C536787,Charlevoix-Saguenay spastic ataxia,DOID:0050946,, +BMGC_DS19901,BMG_DS077520,,,,,,,,,,MeSH ID:C536833,glutaric acidemia I,DOID:0111254,, +BMGC_DS19902,BMG_DS077521,,,,,,,,,,MeSH ID:C536911,familial medullary thyroid carcinoma,DOID:0050547,, +BMGC_DS19903,BMG_DS077522,,,,,,,,,,MeSH ID:C536932,arrhythmogenic right ventricular dysplasia 1,DOID:0110070,, +BMGC_DS19904,BMG_DS077523,,,,,,,,,,MeSH ID:C536974,Townes-Brocks syndrome,DOID:0050887,, +BMGC_DS19905,BMG_DS077524,,,,,,,,,,MeSH ID:C537047,Allan-Herndon-Dudley syndrome,DOID:0050631,, +BMGC_DS19906,BMG_DS077525,,,,,,,,,,MeSH ID:C537090,brachydactyly type A3,DOID:0110966,, +BMGC_DS19907,BMG_DS077526,,,,,,,,,,MeSH ID:C537111,Brown-Vialetto-Van Laere syndrome,DOID:0050694,, +BMGC_DS19908,BMG_DS077527,,,,,,,,,,MeSH ID:C537117,Noonan syndrome with multiple lentigines 2,DOID:0080549,, +BMGC_DS19909,BMG_DS077528,,,,,,,,,,MeSH ID:C537203,spinocerebellar ataxia type 26,DOID:0050975,, +BMGC_DS19910,BMG_DS077529,,,,,,,formaldehyde poisoning,MONDO:0023176,,MeSH ID:C537268,,,, +BMGC_DS19911,BMG_DS077530,,,,,,,,,,MeSH ID:C537288,distal arthrogryposis type 3,DOID:0111607,, +BMGC_DS19912,BMG_DS077533,,,,,,,,,,MeSH ID:C537344,sinonasal undifferentiated carcinoma,DOID:0080799,, +BMGC_DS19913,BMG_DS077534,,,,,,,methylmalonic aciduria and homocystinuria,MONDO:0016826,,MeSH ID:C537359,,,, +BMGC_DS19914,BMG_DS077535,,,,,,,,,,MeSH ID:C537377,"contractures, pterygia, and spondylocarpotarsal fusion syndrome",DOID:0080110,, +BMGC_DS19915,BMG_DS077536,,,,,,,linear skin defects with multiple congenital anomalies,MONDO:0010672,,MeSH ID:C537466,linear skin defects with multiple congenital anomalies 1,DOID:0111808,, +BMGC_DS19916,BMG_DS077537,,,,,,,,,,MeSH ID:C537534,Seckel syndrome 2,DOID:0070013,, +BMGC_DS19917,BMG_DS077539,,,,,,,,,,MeSH ID:C537577,microcephalic osteodysplastic primordial dwarfism type I,DOID:0060608,, +BMGC_DS19918,BMG_DS077540,,,,,,,,,,MeSH ID:C537658,biotin-responsive basal ganglia disease,DOID:0050659,, +BMGC_DS19919,BMG_DS077541,,,,,,,,,,MeSH ID:C537688,Joubert syndrome 5,DOID:0111000,, +BMGC_DS19920,BMG_DS077542,,,,,,,,,,MeSH ID:C537689,Joubert syndrome 6,DOID:0111001,, +BMGC_DS19921,BMG_DS077543,,,,,,,,,,MeSH ID:C537709,Hermansky-Pudlak syndrome 2,DOID:0060540,, +BMGC_DS19922,BMG_DS077546,,,,,,,,,,MeSH ID:C537847,Noonan syndrome 3,DOID:0060581,, +BMGC_DS19923,BMG_DS077547,,,,,,,spinocerebellar ataxia 27A,MONDO:0008654,,MeSH ID:C537856,,,,OMIM ID:193003 +BMGC_DS19924,BMG_DS077549,,,,,,,,,,MeSH ID:C537884,Peters anomaly,DOID:0060673,, +BMGC_DS19925,BMG_DS077550,,,,,,,,,,MeSH ID:C537935,lattice corneal dystrophy,DOID:8943,, +BMGC_DS19926,BMG_DS077551,,,,,,,,,,MeSH ID:C538001,dystonia 12,DOID:0090056,, +BMGC_DS19927,BMG_DS077553,,,,,,,,,,MeSH ID:C538065,frontonasal dysplasia,DOID:0081044,, +BMGC_DS19928,BMG_DS077554,,,,,,,non-syndromic synpolydactyly,MONDO:0000722,,MeSH ID:C538153,,,, +BMGC_DS19929,BMG_DS077555,,,,,,,,,,MeSH ID:C538157,Blau syndrome,DOID:0050678,, +BMGC_DS19930,BMG_DS077557,,,,,,,,,,MeSH ID:C538365,retinitis pigmentosa 1,DOID:0110390,, +BMGC_DS19931,BMG_DS077558,,,,,,,,,,MeSH ID:C538397,nemaline myopathy 5A,DOID:0110936,, +BMGC_DS19932,BMG_DS077559,,,,,,,,,,MeSH ID:C538400,distal arthrogryposis type 2B,DOID:0111599,, +BMGC_DS19933,BMG_DS077560,,,,,,,obsolete childhood hypophosphatasia,MONDO:0009428,,MeSH ID:C562440,,,,OMIM ID:241510 +BMGC_DS19934,BMG_DS077563,,,,,,,,,,MeSH ID:C562489,lymphoid interstitial pneumonia,DOID:0050159,, +BMGC_DS19935,BMG_DS077566,,,,,,,,,,MeSH ID:C562568,cerebellar hypoplasia,DOID:0070338,, +BMGC_DS19936,BMG_DS077567,,,,,,,,,,MeSH ID:C562638,epidermolysis bullosa with congenital localized absence of skin and deformity of nails,DOID:0111347,, +BMGC_DS19937,BMG_DS077568,,,,,,,,,,MeSH ID:C562664,Aland Island eye disease,DOID:0050630,, +BMGC_DS19938,BMG_DS077569,,,,,,,inherited prekallikrein deficiency,MONDO:0012901,,MeSH ID:C562725,,,,OMIM ID:612423 +BMGC_DS19939,BMG_DS077571,,,,,,,,,,MeSH ID:C562801,3-methylglutaconic aciduria type 1,DOID:0110002,, +BMGC_DS19940,BMG_DS077572,,,,,,,,,,MeSH ID:C562940,craniodiaphyseal dysplasia,DOID:0080032,, +BMGC_DS19941,BMG_DS077573,,,,,,,,,,MeSH ID:C562950,cleft soft palate,DOID:0110214,, +BMGC_DS19942,BMG_DS077574,,,,,,,,,,MeSH ID:C562966,cranioectodermal dysplasia,DOID:0050577,, +BMGC_DS19943,BMG_DS077575,,,,,,,,,,MeSH ID:C563007,hypochondrogenesis,DOID:0080044,, +BMGC_DS19944,BMG_DS077576,,,,,,,,,,MeSH ID:C563032,preterm premature rupture of the membranes,DOID:0111144,, +BMGC_DS19945,BMG_DS077577,,,,,,,,,,MeSH ID:C563034,basal laminar drusen,DOID:0060746,, +BMGC_DS19946,BMG_DS077578,,,,,,,,,,MeSH ID:C563184,pigment dispersion syndrome,DOID:0060680,, +BMGC_DS19947,BMG_DS077579,,,,,,,,,,MeSH ID:C563206,thyroid dyshormonogenesis 2A,DOID:0112186,, +BMGC_DS19948,BMG_DS077580,,,,,,,,,,MeSH ID:C563261,renal agenesis,DOID:14766,, +BMGC_DS19949,BMG_DS077581,,,,,,,,,,MeSH ID:C563310,inflammatory bowel disease 2,DOID:0110900,, +BMGC_DS19950,BMG_DS077582,,,,,,,obsolete autosomal dominant limb-girdle muscular dystrophy type 1C,MONDO:0011910,,MeSH ID:C563362,,,,OMIM ID:607801 +BMGC_DS19951,BMG_DS077583,,,,,,,,,,MeSH ID:C563363,Cayman type cerebellar ataxia,DOID:0060694,, +BMGC_DS19952,BMG_DS077584,,,,,,,,,,MeSH ID:C563448,orofacial cleft 3,DOID:0080397,, +BMGC_DS19953,BMG_DS077585,,,,,,,,,,MeSH ID:C563464,orofacial cleft 7,DOID:0080400,, +BMGC_DS19954,BMG_DS077586,,,,,,,,,,MeSH ID:C563476,inclusion body myopathy with Paget disease of bone and frontotemporal dementia,DOID:0050881,, +BMGC_DS19955,BMG_DS077587,,,,,,,,,,MeSH ID:C563524,chromosome 17q11.2 deletion syndrome,DOID:0060403,, +BMGC_DS19956,BMG_DS077588,,,,,,,,,,MeSH ID:C563526,retinitis pigmentosa 27,DOID:0110397,, +BMGC_DS19957,BMG_DS077589,,,,,,,,,,MeSH ID:C563660,holoprosencephaly 7,DOID:0110876,, +BMGC_DS19958,BMG_DS077590,,,,,,,,,,MeSH ID:C563843,orofacial cleft 5,DOID:0080399,, +BMGC_DS19959,BMG_DS077591,,,,,,,,,,MeSH ID:C563926,inflammatory bowel disease 9,DOID:0110886,, +BMGC_DS19960,BMG_DS077592,,,,,,,"hyper-IgE recurrent infection syndrome 1, autosomal dominant",MONDO:0007818,,MeSH ID:C564135 | MeSH ID:C567925,,,,OMIM ID:146840 | OMIM ID:147060 +BMGC_DS19961,BMG_DS077593,,,,,,,,,,MeSH ID:C564140,Leber congenital amaurosis 11,DOID:0110216,, +BMGC_DS19962,BMG_DS077595,,,,,,,,,,MeSH ID:C564181,holoprosencephaly 3,DOID:0110875,, +BMGC_DS19963,BMG_DS077596,,,,,,,,,,MeSH ID:C564206,achromatopsia 4,DOID:0110010,, +BMGC_DS19964,BMG_DS077597,,,,,,,,,,MeSH ID:C564310,retinitis pigmentosa 30,DOID:0110406,, +BMGC_DS19965,BMG_DS077598,,,,,,,,,,MeSH ID:C564327,hypotrichosis-lymphedema-telangiectasia syndrome,DOID:0111361,, +BMGC_DS19966,BMG_DS077599,,,,,,,,,,MeSH ID:C564393,combined deficiency of vitamin K-dependent clotting factors 2,DOID:0112174,, +BMGC_DS19967,BMG_DS077600,,,,,,,obsolete inherited genitourinary tract anomalies,MONDO:0010594,,MeSH ID:C564424,,,,OMIM ID:305690 +BMGC_DS19968,BMG_DS077601,,,,,,,,,,MeSH ID:C564520,retinitis pigmentosa 3,DOID:0110414,, +BMGC_DS19969,BMG_DS077602,,,,,,,,,,MeSH ID:C564544,Uruguay faciocardiomusculoskeletal syndrome,DOID:0112148,, +BMGC_DS19970,BMG_DS077604,,,,,,,,,,MeSH ID:C564597,cone-rod dystrophy 10,DOID:0111017,, +BMGC_DS19971,BMG_DS077605,,,,,,,,,,MeSH ID:C564640,nephronophthisis 4,DOID:0111115,, +BMGC_DS19972,BMG_DS077606,,,,,,,,,,MeSH ID:C564650,Carney-Stratakis syndrome,DOID:0080533,, +BMGC_DS19973,BMG_DS077607,,,,,,,,,,MeSH ID:C564680,inflammatory bowel disease 4,DOID:0110903,, +BMGC_DS19974,BMG_DS077608,,,,,,,,,,MeSH ID:C564681,inflammatory bowel disease 6,DOID:0110907,, +BMGC_DS19975,BMG_DS077609,,,,,,,,,,MeSH ID:C564682,inflammatory bowel disease 8,DOID:0110904,, +BMGC_DS19976,BMG_DS077610,,,,,,,,,,MeSH ID:C564858,congenital nonspherocytic hemolytic anemia 2,DOID:0111077,, +BMGC_DS19977,BMG_DS077612,,,,,,,obsoleted echo virus 11 sensitivity,MONDO:0007506,,MeSH ID:C565071,,,,OMIM ID:129150 +BMGC_DS19978,BMG_DS077613,,,,,,,,,,MeSH ID:C565102,keratosis palmoplantaris striata 2,DOID:0081109,, +BMGC_DS19979,BMG_DS077614,,,,,,,,,,MeSH ID:C565167,complement component 4a deficiency,DOID:0060297,, +BMGC_DS19980,BMG_DS077615,,,,,,,,,,MeSH ID:C565184,cerebrooculofacioskeletal syndrome 4,DOID:0080914,, +BMGC_DS19981,BMG_DS077616,,,,,,,,,,MeSH ID:C565193,brachydactyly-syndactyly syndrome,DOID:0050689,, +BMGC_DS19982,BMG_DS077617,,,,,,,,,,MeSH ID:C565206,retinitis pigmentosa 35,DOID:0110357,, +BMGC_DS19983,BMG_DS077618,,,,,,,,,,MeSH ID:C565234,inflammatory bowel disease 5,DOID:0110889,, +BMGC_DS19984,BMG_DS077619,,,,,,,,,,MeSH ID:C565297,exudative vitreoretinopathy 3,DOID:0111409,, +BMGC_DS19985,BMG_DS077621,,,,,,,,,,MeSH ID:C565342,macrocephaly-autism syndrome,DOID:0060867,, +BMGC_DS19986,BMG_DS077622,,,,,,,,,,MeSH ID:C565353,inflammatory bowel disease 7,DOID:0110882,, +BMGC_DS19987,BMG_DS077623,,,,,,,,,,MeSH ID:C565409,Mast syndrome,DOID:0060245,, +BMGC_DS19988,BMG_DS077624,,,,,,,,,,MeSH ID:C565504,hydrolethalus syndrome 1,DOID:0111355,, +BMGC_DS19989,BMG_DS077625,,,,,,,,,,MeSH ID:C565561,Friedreich ataxia 1,DOID:0111218,, +BMGC_DS19990,BMG_DS077627,,,,,,,,,,MeSH ID:C565733,Wolfram syndrome 2,DOID:0110630,, +BMGC_DS19991,BMG_DS077628,,,,,,,,,,MeSH ID:C565738,Bardet-Biedl syndrome 6,DOID:0110128,, +BMGC_DS19992,BMG_DS077629,,,,,,,,,,MeSH ID:C565764,inflammatory bowel disease 3,DOID:0110891,, +BMGC_DS19993,BMG_DS077630,,,,,,,,,,MeSH ID:C565780,nephronophthisis 3,DOID:0111114,, +BMGC_DS19994,BMG_DS077631,,,,,,,,,,MeSH ID:C565831,focal segmental glomerulosclerosis 2,DOID:0111129,, +BMGC_DS19995,BMG_DS077632,,,,,,,,,,MeSH ID:C565840,long QT syndrome 3,DOID:0110646,, +BMGC_DS19996,BMG_DS077633,,,,,,,,,,MeSH ID:C565916,Bardet-Biedl syndrome 7,DOID:0110129,, +BMGC_DS19997,BMG_DS077634,,,,,,,,,,MeSH ID:C565917,Bardet-Biedl syndrome 8,DOID:0110130,, +BMGC_DS19998,BMG_DS077635,,,,,,,,,,MeSH ID:C565918,Bardet-Biedl syndrome 9,DOID:0110131,, +BMGC_DS19999,BMG_DS077636,,,,,,,,,,MeSH ID:C565919,Bardet-Biedl syndrome 10,DOID:0110132,, +BMGC_DS20000,BMG_DS077637,,,,,,,,,,MeSH ID:C565920,Bardet-Biedl syndrome 11,DOID:0110133,, +BMGC_DS20001,BMG_DS077638,,,,,,,,,,MeSH ID:C565921,Bardet-Biedl syndrome 12,DOID:0110134,, +BMGC_DS20002,BMG_DS077639,,,,,,,,,,MeSH ID:C565924,atrichia with papular lesions,DOID:0060689,, +BMGC_DS20003,BMG_DS077640,,,,,,,,,,MeSH ID:C565942,arterial tortuosity syndrome,DOID:0050645,, +BMGC_DS20004,BMG_DS077642,,,,,,,,,,MeSH ID:C566069,distal arthrogryposis type 10,DOID:0111593,, +BMGC_DS20005,BMG_DS077643,,,,,,,,,,MeSH ID:C566121,orofacial cleft 1,DOID:0080395,, +BMGC_DS20006,BMG_DS077644,,,,,,,,,,MeSH ID:C566345,acromelic frontonasal dysostosis,DOID:0060342,, +BMGC_DS20007,BMG_DS077645,,,,,,,,,,MeSH ID:C566419,orofacial cleft 2,DOID:0080396,, +BMGC_DS20008,BMG_DS077646,,,,,,,,,,MeSH ID:C566431,retinitis pigmentosa 36,DOID:0110405,, +BMGC_DS20009,BMG_DS077647,,,,,,,,,,MeSH ID:C566464,holoprosencephaly 5,DOID:0110878,, +BMGC_DS20010,BMG_DS077648,,,,,,,,,,MeSH ID:C566470,retinal cone dystrophy 4,DOID:0081023,, +BMGC_DS20011,BMG_DS077649,,,,,,,,,,MeSH ID:C566582,nephronophthisis 2,DOID:0111113,, +BMGC_DS20012,BMG_DS077650,,,,,,,,,,MeSH ID:C566594,Friedreich ataxia 2,DOID:0111219,, +BMGC_DS20013,BMG_DS077651,,,,,,,,,,MeSH ID:C566605,orofacial cleft 10,DOID:0080403,, +BMGC_DS20014,BMG_DS077652,,,,,,,,,,MeSH ID:C566637,retinitis pigmentosa 19,DOID:0110354,, +BMGC_DS20015,BMG_DS077653,,,,,,,,,,MeSH ID:C566716,retinitis pigmentosa 9,DOID:0110387,, +BMGC_DS20016,BMG_DS077654,,,,,,,,,,MeSH ID:C566719,retinal cone dystrophy 1,DOID:0081024,, +BMGC_DS20017,BMG_DS077656,,,,,,,familial pterygium of the conjunctiva,MONDO:0008337,,MeSH ID:C566740,,,,OMIM ID:178000 +BMGC_DS20018,BMG_DS077657,,,,,,,,,,MeSH ID:C566766,long QT syndrome 5,DOID:0110647,, +BMGC_DS20019,BMG_DS077658,,,,,,,,,,MeSH ID:C566815,Char syndrome,DOID:0060563,, +BMGC_DS20020,BMG_DS077659,,,,,,,parietal foramina,MONDO:0018953,,MeSH ID:C566826,,,, +BMGC_DS20021,BMG_DS077660,,,,,,,,,,MeSH ID:C566906,CAKUT,DOID:0080205,, +BMGC_DS20022,BMG_DS077661,,,,,,,,,,MeSH ID:C566916,Joubert syndrome 7,DOID:0111002,, +BMGC_DS20023,BMG_DS077662,,,,,,,,,,MeSH ID:C566930,nephronophthisis 7,DOID:0111116,, +BMGC_DS20024,BMG_DS077663,,,,,,,,,,MeSH ID:C567059,multiple endocrine neoplasia type 4,DOID:0080137,, +BMGC_DS20025,BMG_DS077664,,,,,,,,,,MeSH ID:C567080,warfarin sensitivity,DOID:0080666,, +BMGC_DS20026,BMG_DS077665,,,,,,,,,,MeSH ID:C567140,Bardet-Biedl syndrome 13,DOID:0110135,, +BMGC_DS20027,BMG_DS077667,,,,,,,,,,MeSH ID:C567197,Leber congenital amaurosis 13,DOID:0110330,, +BMGC_DS20028,BMG_DS077668,,,,,,,,,,MeSH ID:C567410,orofacial cleft 11,DOID:0080404,, +BMGC_DS20029,BMG_DS077669,,,,,,,,,,MeSH ID:C567430,dystonia 16,DOID:0090048,, +BMGC_DS20030,BMG_DS077670,,,,,,,,,,MeSH ID:C567518,bestrophinopathy,DOID:0050662,, +BMGC_DS20031,BMG_DS077672,,,,,,,,,,MeSH ID:C567551,"spondyloepimetaphyseal dysplasia, Pakistani type",DOID:0050812,, +BMGC_DS20032,BMG_DS077673,,,,,,,,,,MeSH ID:C567624,mitochondrial DNA depletion syndrome 5,DOID:0080124,, +BMGC_DS20033,BMG_DS077674,,,,,,,,,,MeSH ID:C567844,Parkinson's disease 14,DOID:0060900,, +BMGC_DS20034,BMG_DS077675,,,,,,,,,,MeSH ID:C567854,retinitis pigmentosa 42,DOID:0110386,, +BMGC_DS20035,BMG_DS077676,,,,,,,,,,MeSH ID:C567887,"46,XY sex reversal 4",DOID:0111771,, +BMGC_DS20036,BMG_DS077677,,,,,,,,,,MeSH ID:C571912,inhalation anthrax,DOID:0050160,, +BMGC_DS20037,BMG_DS077679,,,,,,,,,,MeSH ID:C579878,achondrogenesis,DOID:0080043,, +BMGC_DS20038,BMG_DS077680,,,,,,,,,,MeSH ID:C579991,frontotemporal dementia and/or amyotrophic lateral sclerosis 7,DOID:0111227,, +BMGC_DS20039,BMG_DS077682,,,,,,,,,,MeSH ID:C580192,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,DOID:0090110,, +BMGC_DS20040,BMG_DS077683,,,,,,,,,,MeSH ID:C580241,Larsen syndrome,DOID:14764,, +BMGC_DS20041,BMG_DS077684,,,,,,,,,,MeSH ID:C580473,mitochondrial DNA depletion syndrome 5,DOID:0080124,, +BMGC_DS20042,BMG_DS077686,,,,,,,,,"Abdomen, Acute",MeSH ID:D000006,,,, +BMGC_DS20043,BMG_DS077688,,,,,,,,,Abdominal Neoplasms,MeSH ID:D000008,,,, +BMGC_DS20044,BMG_DS077689,,,,,,,obsolete congenital abnormality,MONDO:0000839,Congenital Abnormalities,MeSH ID:D000013,,,, +BMGC_DS20045,BMG_DS077690,,,,,,,,,"Abnormalities, Drug-Induced",MeSH ID:D000014,,,, +BMGC_DS20046,BMG_DS077691,,,,,,,,,"Abnormalities, Multiple",MeSH ID:D000015,,,, +BMGC_DS20047,BMG_DS077693,,,,,,,,,"Abortion, Spontaneous",MeSH ID:D000022,,,, +BMGC_DS20048,BMG_DS077697,,,,,,,,,"Abortion, Threatened",MeSH ID:D000033,,,, +BMGC_DS20049,BMG_DS077698,,,,,,,,,Abruptio Placentae,MeSH ID:D000037,,,, +BMGC_DS20050,BMG_DS077708,,,,,,,,,,MeSH ID:D000067877,autism spectrum disorder,DOID:0060041,, +BMGC_DS20051,BMG_DS077723,,,,,,,,,Anterior Cruciate Ligament Injuries,MeSH ID:D000070598,,,, +BMGC_DS20052,BMG_DS077729,,,,,,,,,"Brain Injuries, Diffuse",MeSH ID:D000070625,,,, +BMGC_DS20053,BMG_DS077731,,,,,,,,,"Brain Injuries, Traumatic",MeSH ID:D000070642,,,, +BMGC_DS20054,BMG_DS077735,,,,,,,,,Hyperekplexia,MeSH ID:D000071017,hyperekplexia | hyperekplexia 1,DOID:0060696;DOID:0060695,, +BMGC_DS20055,BMG_DS077736,,,,,,,,,Anorectal Malformations,MeSH ID:D000071056,,,, +BMGC_DS20056,BMG_DS077752,,,,,,,ST-elevation myocardial infarction,MONDO:0041656,ST Elevation Myocardial Infarction,MeSH ID:D000072657,,,, +BMGC_DS20057,BMG_DS077753,,,,,,,,,Ciliopathies,MeSH ID:D000072661,,,, +BMGC_DS20058,BMG_DS077756,,,,,,,,,Ankyloglossia,MeSH ID:D000072676,ankyloglossia,DOID:0060604,, +BMGC_DS20059,BMG_DS077757,,,,,,,,,Cancer Pain,MeSH ID:D000072716,,,, +BMGC_DS20060,BMG_DS077768,,,,,,,,,Meconium Ileus,MeSH ID:D000074270,,,, +BMGC_DS20061,BMG_DS077769,,,,,,,,,Opium Dependence,MeSH ID:D000074607,,,, +BMGC_DS20062,BMG_DS077773,,,,,,,,,Cardiac Conduction System Disease,MeSH ID:D000075224,,,, +BMGC_DS20063,BMG_DS077774,,,,,,,heavy metal poisoning,MONDO:0023305,Heavy Metal Poisoning,MeSH ID:D000075322,,,, +BMGC_DS20064,BMG_DS077775,,,,,,,,,Immunoglobulin Light-chain Amyloidosis,MeSH ID:D000075363,immunoglobulin light chain amyloidosis,DOID:0080933,, +BMGC_DS20065,BMG_DS077778,,,,,,,,,Clinical Deterioration,MeSH ID:D000075902,,,, +BMGC_DS20066,BMG_DS077780,,,,,,,,,Drug Misuse,MeSH ID:D000076064,,,, +BMGC_DS20067,BMG_DS077782,,,,,,,,,Adenocarcinoma of Lung,MeSH ID:D000077192,,,, +BMGC_DS20068,BMG_DS077783,,,,,,,,,Squamous Cell Carcinoma of Head and Neck,MeSH ID:D000077195,,,, +BMGC_DS20069,BMG_DS077785,,,,,,,,,"Carcinoma, Ovarian Epithelial",MeSH ID:D000077216,,,, +BMGC_DS20070,BMG_DS077786,,,,,,,,,Sleepiness,MeSH ID:D000077260,,,, +BMGC_DS20071,BMG_DS077787,,,,,,,,,"Thyroid Cancer, Papillary",MeSH ID:D000077273,,,, +BMGC_DS20072,BMG_DS077788,,,,,,,,,Nasopharyngeal Carcinoma,MeSH ID:D000077274,,,, +BMGC_DS20073,BMG_DS077789,,,,,,,,,Esophageal Squamous Cell Carcinoma,MeSH ID:D000077277,,,, +BMGC_DS20074,BMG_DS077793,,,,,,,,,Body-Weight Trajectory,MeSH ID:D000077962,,,, +BMGC_DS20075,BMG_DS077794,,,,,,,,,Gestational Weight Gain,MeSH ID:D000078064,,,, +BMGC_DS20076,BMG_DS077812,,,,,,,,,Shwachman-Diamond Syndrome,MeSH ID:D000081003,Shwachman-Diamond syndrome,DOID:0060479,, +BMGC_DS20077,BMG_DS077813,,,,,,,,,Ototoxicity,MeSH ID:D000081015,,,, +BMGC_DS20078,BMG_DS077814,,,,,,,,,Pulmonary Arterial Hypertension,MeSH ID:D000081029,,,, +BMGC_DS20079,BMG_DS077832,,,,,,,,,Chemotherapy-Related Cognitive Impairment,MeSH ID:D000084202,,,, +BMGC_DS20080,BMG_DS077833,,,,,,,,,Hyperthermia,MeSH ID:D000084462,,,, +BMGC_DS20081,BMG_DS077834,,,,,,,,,"Mesothelioma, Malignant",MeSH ID:D000086002,,,, +BMGC_DS20082,BMG_DS077835,,,,,,,,,Anosmia,MeSH ID:D000086582,,,, +BMGC_DS20083,BMG_DS077836,,,,,,,,,Rhinorrhea,MeSH ID:D000086722,,,, +BMGC_DS20084,BMG_DS077876,,,,,,,,,"Melanoma, Cutaneous Malignant",MeSH ID:D000096142,,,, +BMGC_DS20085,BMG_DS077890,,,,,,,,,Uveal Melanoma,MeSH ID:D000098943,,,, +BMGC_DS20086,BMG_DS077899,,,,,,,,,Achondroplasia,MeSH ID:D000130,,,, +BMGC_DS20087,BMG_DS077900,,,,,,,,,Acid-Base Imbalance,MeSH ID:D000137,,,, +BMGC_DS20088,BMG_DS077901,,,,,,,,,Acidosis,MeSH ID:D000138,,,, +BMGC_DS20089,BMG_DS077902,,,,,,,infantile mercury poisoning,MONDO:0016588,Acrodynia,MeSH ID:D000170,,,, +BMGC_DS20090,BMG_DS077904,,,,,,,,,Acute-Phase Reaction,MeSH ID:D000210,,,, +BMGC_DS20091,BMG_DS077905,,,,,,,,,Adenocarcinoma,MeSH ID:D000230,,,, +BMGC_DS20092,BMG_DS077909,,,,,,,,,Adenoma,MeSH ID:D000236,,,, +BMGC_DS20093,BMG_DS077912,,,,,,,,,"Adenoma, Acidophil",MeSH ID:D000239,,,, +BMGC_DS20094,BMG_DS077913,,,,,,,,,Tissue Adhesions,MeSH ID:D000267,,,, +BMGC_DS20095,BMG_DS077914,,,,,,,,,Adrenal Cortex Neoplasms,MeSH ID:D000306,,,, +BMGC_DS20096,BMG_DS077915,,,,,,,,,Adrenal Insufficiency,MeSH ID:D000309,,,, +BMGC_DS20097,BMG_DS077916,,,,,,,,,Adrenal Gland Neoplasms,MeSH ID:D000310,,,, +BMGC_DS20098,BMG_DS077917,,,,,,,,,"Adrenal Hyperplasia, Congenital",MeSH ID:D000312,,,, +BMGC_DS20099,BMG_DS077921,,,,,,,,,Ageusia,MeSH ID:D000370,,,, +BMGC_DS20100,BMG_DS077925,,,,,,,,,Albuminuria,MeSH ID:D000419,,,, +BMGC_DS20101,BMG_DS077927,,,,,,,,,Alcoholic Intoxication,MeSH ID:D000435,,,, +BMGC_DS20102,BMG_DS077928,,,,,,,,,Alcoholism,MeSH ID:D000437,,,, +BMGC_DS20103,BMG_DS077929,,,,,,,,,"Alkalosis, Respiratory",MeSH ID:D000472,,,, +BMGC_DS20104,BMG_DS077930,,,,,,,,,"Alveolitis, Extrinsic Allergic",MeSH ID:D000542,,,, +BMGC_DS20105,BMG_DS077931,,,,,,,,,Ameloblastoma,MeSH ID:D000564,ameloblastoma,DOID:0050894,, +BMGC_DS20106,BMG_DS077932,,,,,,,,,Amelogenesis Imperfecta,MeSH ID:D000567,,,, +BMGC_DS20107,BMG_DS077933,,,,,,,,,Amenorrhea,MeSH ID:D000568,,,, +BMGC_DS20108,BMG_DS077934,,,,,,,,,Amnesia,MeSH ID:D000647,,,, +BMGC_DS20109,BMG_DS077935,,,,,,,,,"Amnesia, Retrograde",MeSH ID:D000648,,,, +BMGC_DS20110,BMG_DS077938,,,,,,,,,Anaphylaxis,MeSH ID:D000707,,,, +BMGC_DS20111,BMG_DS077939,,,,,,,,,Anaplasia,MeSH ID:D000708,,,, +BMGC_DS20112,BMG_DS077940,,,,,,,,,"Anemia, Dyserythropoietic, Congenital",MeSH ID:D000742,,,, +BMGC_DS20113,BMG_DS077941,,,,,,,,,"Anemia, Hypochromic",MeSH ID:D000747,,,, +BMGC_DS20114,BMG_DS077942,,,,,,,,,"Anemia, Refractory",MeSH ID:D000753,,,, +BMGC_DS20115,BMG_DS077943,,,,,,,,,"Anemia, Refractory, with Excess of Blasts",MeSH ID:D000754,,,, +BMGC_DS20116,BMG_DS077944,,,,,,,,,"Anemia, Sideroblastic",MeSH ID:D000756,,,, +BMGC_DS20117,BMG_DS077945,,,,,,,,,Anencephaly,MeSH ID:D000757,anencephaly,DOID:0060668,, +BMGC_DS20118,BMG_DS077946,,,,,,,,,Aneuploidy,MeSH ID:D000782,,,, +BMGC_DS20119,BMG_DS077947,,,,,,,,,Aneurysm,MeSH ID:D000783,,,, +BMGC_DS20120,BMG_DS077948,,,,,,,,,Aortic Dissection,MeSH ID:D000784,,,, +BMGC_DS20121,BMG_DS077949,,,,,,,,,Angina Pectoris,MeSH ID:D000787,,,, +BMGC_DS20122,BMG_DS077950,,,,,,,,,Angiokeratoma,MeSH ID:D000794,,,, +BMGC_DS20123,BMG_DS077951,,,,,,,,,Angioedema,MeSH ID:D000799,,,, +BMGC_DS20124,BMG_DS077952,,,,,,,,,Aniseikonia,MeSH ID:D000839,aniseikonia,DOID:0050304,, +BMGC_DS20125,BMG_DS077953,,,,,,,,,Ankylosis,MeSH ID:D000844,,,, +BMGC_DS20126,BMG_DS077954,,,,,,,,,Anodontia,MeSH ID:D000848,,,, +BMGC_DS20127,BMG_DS077956,,,,,,,,,Anophthalmos,MeSH ID:D000853,,,, +BMGC_DS20128,BMG_DS077957,,,,,,,,,Hypoxia,MeSH ID:D000860,,,, +BMGC_DS20129,BMG_DS077958,,,,,,,,,Anthrax,MeSH ID:D000881,,,, +BMGC_DS20130,BMG_DS077959,,,,,,,,,Anus Neoplasms,MeSH ID:D001005,,,, +BMGC_DS20131,BMG_DS077960,,,,,,,,,"Anus, Imperforate",MeSH ID:D001006,,,, +BMGC_DS20132,BMG_DS077961,,,,,,,,,Aortic Coarctation,MeSH ID:D001017,,,, +BMGC_DS20133,BMG_DS077962,,,,,,,,,"Aortic Stenosis, Subvalvular",MeSH ID:D001020,,,, +BMGC_DS20134,BMG_DS077963,,,,,,,,,Aortic Valve Stenosis,MeSH ID:D001024,,,, +BMGC_DS20135,BMG_DS077964,,,,,,,,,Aortopulmonary Septal Defect,MeSH ID:D001028,,,, +BMGC_DS20136,BMG_DS077969,,,,,,,,,Aphonia,MeSH ID:D001044,,,, +BMGC_DS20137,BMG_DS077970,,,,,,,,,Apnea,MeSH ID:D001049,,,, +BMGC_DS20138,BMG_DS077974,,,,,,,argyria,MONDO:0018952,Argyria,MeSH ID:D001129,,,, +BMGC_DS20139,BMG_DS077976,,,,,,,,,Arnold-Chiari Malformation,MeSH ID:D001139,,,, +BMGC_DS20140,BMG_DS077977,,,,,,,,,"Arrhythmia, Sinus",MeSH ID:D001146,,,, +BMGC_DS20141,BMG_DS077980,,,,,,,obsolete rare arteriovenous malformation,MONDO:0016234,Arteriovenous Malformations,MeSH ID:D001165,,,, +BMGC_DS20142,BMG_DS077981,,,,,,,,,Arteritis,MeSH ID:D001167,,,, +BMGC_DS20143,BMG_DS077982,,,,,,,,,"Arthritis, Experimental",MeSH ID:D001169,,,, +BMGC_DS20144,BMG_DS077983,,,,,,,arthrogryposis syndrome,MONDO:0015225,Arthrogryposis,MeSH ID:D001176,,,, +BMGC_DS20145,BMG_DS077986,,,,,,,,,Asphyxia,MeSH ID:D001237,,,, +BMGC_DS20146,BMG_DS077987,,,,,,,,,Asthenia,MeSH ID:D001247,,,, +BMGC_DS20147,BMG_DS077989,,,,,,,,,Astrocytoma,MeSH ID:D001254,,,, +BMGC_DS20148,BMG_DS077991,,,,,,,,,Atrial Flutter,MeSH ID:D001282,,,, +BMGC_DS20149,BMG_DS077992,,,,,,,,,Atrophy,MeSH ID:D001284,,,, +BMGC_DS20150,BMG_DS077993,,,,,,,,,Auditory Perceptual Disorders,MeSH ID:D001308,,,, +BMGC_DS20151,BMG_DS077997,,,,,,,,,Bacteriuria,MeSH ID:D001437,,,, +BMGC_DS20152,BMG_DS077999,,,,,,,,,Basal Cell Nevus Syndrome,MeSH ID:D001478,,,, +BMGC_DS20153,BMG_DS078000,,,,,,,psychiatric disorder,MONDO:0002025,,MeSH ID:D001523,,,, +BMGC_DS20154,BMG_DS078002,,,,,,,,,Bile Duct Neoplasms,MeSH ID:D001650,,,, +BMGC_DS20155,BMG_DS078003,,,,,,,,,Biliary Atresia,MeSH ID:D001656,,,, +BMGC_DS20156,BMG_DS078005,,,,,,,,,Biliary Tract Neoplasms,MeSH ID:D001661,,,, +BMGC_DS20157,BMG_DS078007,,,,,,,,,Birth Weight,MeSH ID:D001724,,,, +BMGC_DS20158,BMG_DS078010,,,,,,,,,Urinary Bladder Calculi,MeSH ID:D001744,,,, +BMGC_DS20159,BMG_DS078012,,,,,,,,,Urinary Bladder Neck Obstruction,MeSH ID:D001748,,,, +BMGC_DS20160,BMG_DS078013,,,,,,,,,Urinary Bladder Neoplasms,MeSH ID:D001749,,,, +BMGC_DS20161,BMG_DS078014,,,,,,,,,Blast Crisis,MeSH ID:D001752,,,, +BMGC_DS20162,BMG_DS078016,,,,,,,,,Blister,MeSH ID:D001768,,,, +BMGC_DS20163,BMG_DS078019,,,,,,,,,Body Weight,MeSH ID:D001835,,,, +BMGC_DS20164,BMG_DS078020,,,,,,,,,Body Weight Changes,MeSH ID:D001836,,,, +BMGC_DS20165,BMG_DS078021,,,,,,,,,Bone Neoplasms,MeSH ID:D001859,,,, +BMGC_DS20166,BMG_DS078022,,,,,,,,,Bone Resorption,MeSH ID:D001862,bone resorption disease,DOID:0080011,, +BMGC_DS20167,BMG_DS078023,,,,,,,,,Bowen's Disease,MeSH ID:D001913,,,, +BMGC_DS20168,BMG_DS078024,,,,,,,,,Bradycardia,MeSH ID:D001919,,,, +BMGC_DS20169,BMG_DS078026,,,,,,,,,Brain Death,MeSH ID:D001926,,,, +BMGC_DS20170,BMG_DS078027,,,,,,,,,Brain Edema,MeSH ID:D001929,,,, +BMGC_DS20171,BMG_DS078028,,,,,,,brain injury,MONDO:0043510,Brain Injuries,MeSH ID:D001930,,,, +BMGC_DS20172,BMG_DS078029,,,,,,,,,Brain Neoplasms,MeSH ID:D001932,,,, +BMGC_DS20173,BMG_DS078031,,,,,,,,,Breast Neoplasms,MeSH ID:D001943,,,, +BMGC_DS20174,BMG_DS078035,,,,,,,,,Bronchial Neoplasms,MeSH ID:D001984,,,, +BMGC_DS20175,BMG_DS078039,,,,,,,,,Bruxism,MeSH ID:D002012,,,, +BMGC_DS20176,BMG_DS078040,,,,,,,,,Bulimia,MeSH ID:D002032,,,, +BMGC_DS20177,BMG_DS078041,,,,,,,,,Burkitt Lymphoma,MeSH ID:D002051,,,, +BMGC_DS20178,BMG_DS078043,,,,,,,burn,MONDO:0043519,Burns,MeSH ID:D002056,,,, +BMGC_DS20179,BMG_DS078044,,,,,,,,,"Burns, Chemical",MeSH ID:D002057,,,, +BMGC_DS20180,BMG_DS078047,,,,,,,,,Cachexia,MeSH ID:D002100,,,, +BMGC_DS20181,BMG_DS078049,,,,,,,cadmium poisoning,MONDO:0043523,Cadmium Poisoning,MeSH ID:D002105,,,, +BMGC_DS20182,BMG_DS078050,,,,,,,,,Calcinosis,MeSH ID:D002114,,,, +BMGC_DS20183,BMG_DS078051,,,,,,,,,Calculi,MeSH ID:D002137,,,, +BMGC_DS20184,BMG_DS078054,,,,,,,,,"Candidiasis, Cutaneous",MeSH ID:D002179,cutaneous candidiasis,DOID:0080161,, +BMGC_DS20185,BMG_DS078055,,,,,,,,,"Candidiasis, Oral",MeSH ID:D002180,,,, +BMGC_DS20186,BMG_DS078056,,,,,,,,,Carbon Monoxide Poisoning,MeSH ID:D002249,,,, +BMGC_DS20187,BMG_DS078057,,,,,,,,,Carbon Tetrachloride Poisoning,MeSH ID:D002252,,,, +BMGC_DS20188,BMG_DS078059,,,,,,,,,Carcinoid Tumor,MeSH ID:D002276,,,, +BMGC_DS20189,BMG_DS078060,,,,,,,,,Carcinoma,MeSH ID:D002277,,,, +BMGC_DS20190,BMG_DS078061,,,,,,,,,Carcinoma in Situ,MeSH ID:D002278,,,, +BMGC_DS20191,BMG_DS078062,,,,,,,,,"Carcinoma 256, Walker",MeSH ID:D002279,,,, +BMGC_DS20192,BMG_DS078063,,,,,,,,,"Carcinoma, Basal Cell",MeSH ID:D002280,,,, +BMGC_DS20193,BMG_DS078065,,,,,,,,,"Adenocarcinoma, Bronchiolo-Alveolar",MeSH ID:D002282,,,, +BMGC_DS20194,BMG_DS078066,,,,,,,,,"Carcinoma, Bronchogenic",MeSH ID:D002283,,,, +BMGC_DS20195,BMG_DS078068,,,,,,,,,"Carcinoma, Intraductal, Noninfiltrating",MeSH ID:D002285,,,, +BMGC_DS20196,BMG_DS078069,,,,,,,,,"Carcinoma, Ehrlich Tumor",MeSH ID:D002286,,,, +BMGC_DS20197,BMG_DS078071,,,,,,,,,"Adenocarcinoma, Mucinous",MeSH ID:D002288,,,, +BMGC_DS20198,BMG_DS078072,,,,,,,,,"Carcinoma, Non-Small-Cell Lung",MeSH ID:D002289,,,, +BMGC_DS20199,BMG_DS078073,,,,,,,,,"Carcinoma, Papillary",MeSH ID:D002291,,,, +BMGC_DS20200,BMG_DS078074,,,,,,,,,"Carcinoma, Renal Cell",MeSH ID:D002292,,,, +BMGC_DS20201,BMG_DS078076,,,,,,,,,"Carcinoma, Squamous Cell",MeSH ID:D002294,,,, +BMGC_DS20202,BMG_DS078077,,,,,,,,,"Carcinoma, Transitional Cell",MeSH ID:D002295,,,, +BMGC_DS20203,BMG_DS078078,,,,,,,,,Carcinosarcoma,MeSH ID:D002296,,,, +BMGC_DS20204,BMG_DS078079,,,,,,,,,"Cardiac Output, Low",MeSH ID:D002303,,,, +BMGC_DS20205,BMG_DS078080,,,,,,,,,"Cardiomyopathy, Restrictive",MeSH ID:D002313,,,, +BMGC_DS20206,BMG_DS078082,,,,,,,,,Catalepsy,MeSH ID:D002375,,,, +BMGC_DS20207,BMG_DS078083,,,,,,,,,Cecal Neoplasms,MeSH ID:D002430,,,, +BMGC_DS20208,BMG_DS078084,,,,,,,,,"Cell Transformation, Neoplastic",MeSH ID:D002471,,,, +BMGC_DS20209,BMG_DS078087,,,,,,,,,Central Nervous System Diseases,MeSH ID:D002493,,,, +BMGC_DS20210,BMG_DS078089,,,,,,,,,"Hypoxia, Brain",MeSH ID:D002534,,,, +BMGC_DS20211,BMG_DS078090,,,,,,,,,Intracranial Arteriovenous Malformations,MeSH ID:D002538,,,, +BMGC_DS20212,BMG_DS078091,,,,,,,,,Cerebral Hemorrhage,MeSH ID:D002543,,,, +BMGC_DS20213,BMG_DS078093,,,,,,,,,Uterine Cervical Dysplasia,MeSH ID:D002578,,,, +BMGC_DS20214,BMG_DS078095,,,,,,,,,Uterine Cervical Neoplasms,MeSH ID:D002583,,,, +BMGC_DS20215,BMG_DS078098,,,,,,,acquired hyperprolactinemia,MONDO:0024305,,MeSH ID:D002640 | MeSH ID:D006966,,,, +BMGC_DS20216,BMG_DS078100,,,,,,,developmental disability,MONDO:0005287,,MeSH ID:D002658,,,, +BMGC_DS20217,BMG_DS078102,,,,,,,,,Choanal Atresia,MeSH ID:D002754,,,, +BMGC_DS20218,BMG_DS078103,,,,,,,,,"Adenoma, Bile Duct",MeSH ID:D002759,,,, +BMGC_DS20219,BMG_DS078104,,,,,,,,,Chondroblastoma,MeSH ID:D002804,,,, +BMGC_DS20220,BMG_DS078105,,,,,,,,,Chondroma,MeSH ID:D002812,,,, +BMGC_DS20221,BMG_DS078106,,,,,,,,,Chondrosarcoma,MeSH ID:D002813,,,, +BMGC_DS20222,BMG_DS078107,,,,,,,,,Chordoma,MeSH ID:D002817,,,, +BMGC_DS20223,BMG_DS078112,,,,,,,,,Choroid Hemorrhage,MeSH ID:D002832,,,, +BMGC_DS20224,BMG_DS078113,,,,,,,,,Chromosome Aberrations,MeSH ID:D002869,,,, +BMGC_DS20225,BMG_DS078114,,,,,,,,,Chromosome Deletion,MeSH ID:D002872,,,, +BMGC_DS20226,BMG_DS078115,,,,,,,,,Chromosome Fragility,MeSH ID:D002873,,,, +BMGC_DS20227,BMG_DS078117,,,,,,,,,Cleft Lip,MeSH ID:D002971,,,, +BMGC_DS20228,BMG_DS078118,,,,,,,,,Cleft Palate,MeSH ID:D002972,,,, +BMGC_DS20229,BMG_DS078119,,,,,,,,,Clubfoot,MeSH ID:D003025,,,, +BMGC_DS20230,BMG_DS078124,,,,,,,,,Coloboma,MeSH ID:D003103,,,, +BMGC_DS20231,BMG_DS078125,,,,,,,,,Colonic Neoplasms,MeSH ID:D003110,,,, +BMGC_DS20232,BMG_DS078126,,,,,,,,,Colonic Polyps,MeSH ID:D003111,,,, +BMGC_DS20233,BMG_DS078128,,,,,,,,,Communication Disorders,MeSH ID:D003147,,,, +BMGC_DS20234,BMG_DS078129,,,,,,,,,Compartment Syndromes,MeSH ID:D003161,,,, +BMGC_DS20235,BMG_DS078130,,,,,,,,,Confusion,MeSH ID:D003221,,,, +BMGC_DS20236,BMG_DS078134,,,,,,,,,Consciousness Disorders,MeSH ID:D003244,,,, +BMGC_DS20237,BMG_DS078135,,,,,,,,,Constipation,MeSH ID:D003248,,,, +BMGC_DS20238,BMG_DS078136,,,,,,,,,"Constriction, Pathologic",MeSH ID:D003251,,,, +BMGC_DS20239,BMG_DS078137,,,,,,,obsolete contracture,MONDO:0005307,Contracture,MeSH ID:D003286,,,, +BMGC_DS20240,BMG_DS078141,,,,,,,,,Corneal Opacity,MeSH ID:D003318,,,, +BMGC_DS20241,BMG_DS078142,,,,,,,,,Coronary Disease,MeSH ID:D003327,,,, +BMGC_DS20242,BMG_DS078143,,,,,,,,,Coronary Vessel Anomalies,MeSH ID:D003330,,,, +BMGC_DS20243,BMG_DS078144,,,,,,,,,Cough,MeSH ID:D003371,,,, +BMGC_DS20244,BMG_DS078147,,,,,,,,,Craniopharyngioma,MeSH ID:D003397,,,, +BMGC_DS20245,BMG_DS078148,,,,,,,,,Crigler-Najjar Syndrome,MeSH ID:D003414,,,, +BMGC_DS20246,BMG_DS078151,,,,,,,,,Cryptorchidism,MeSH ID:D003456,,,, +BMGC_DS20247,BMG_DS078152,,,,,,,,,Cyanosis,MeSH ID:D003490,,,, +BMGC_DS20248,BMG_DS078153,,,,,,,,,"Carcinoma, Adenoid Cystic",MeSH ID:D003528,adenoid cystic carcinoma,DOID:0080202,, +BMGC_DS20249,BMG_DS078155,,,,,,,,,Cystadenoma,MeSH ID:D003537,,,, +BMGC_DS20250,BMG_DS078156,,,,,,,,,Phyllodes Tumor,MeSH ID:D003557,,,, +BMGC_DS20251,BMG_DS078157,,,,,,,,,Cysts,MeSH ID:D003560,,,, +BMGC_DS20252,BMG_DS078158,,,,,,,,,"Hearing Loss, Sudden",MeSH ID:D003639,,,, +BMGC_DS20253,BMG_DS078159,,,,,,,,,Death,MeSH ID:D003643,,,, +BMGC_DS20254,BMG_DS078160,,,,,,,,,"Death, Sudden",MeSH ID:D003645,,,, +BMGC_DS20255,BMG_DS078162,,,,,,,,,Pressure Ulcer,MeSH ID:D003668,,,, +BMGC_DS20256,BMG_DS078163,,,,,,,,,Delirium,MeSH ID:D003693,,,, +BMGC_DS20257,BMG_DS078164,,,,,,,,,Dementia,MeSH ID:D003704,,,, +BMGC_DS20258,BMG_DS078171,,,,,,,,,"Dermatitis, Exfoliative",MeSH ID:D003873,,,, +BMGC_DS20259,BMG_DS078173,,,,,,,,,Dextrocardia,MeSH ID:D003914,,,, +BMGC_DS20260,BMG_DS078174,,,,,,,,,"Diabetes Mellitus, Experimental",MeSH ID:D003921,,,, +BMGC_DS20261,BMG_DS078177,,,,,,,,,Diarrhea,MeSH ID:D003967,,,, +BMGC_DS20262,BMG_DS078178,,,,,,,,,"Diarrhea, Infantile",MeSH ID:D003968,,,, +BMGC_DS20263,BMG_DS078179,,,,,,,,,Vipoma,MeSH ID:D003969,,,, +BMGC_DS20264,BMG_DS078181,,,,,,,,,Digestive System Abnormalities,MeSH ID:D004065,,,, +BMGC_DS20265,BMG_DS078182,,,,,,,,,Digestive System Neoplasms,MeSH ID:D004067,,,, +BMGC_DS20266,BMG_DS078183,,,,,,,,,"Dilatation, Pathologic",MeSH ID:D004108,,,, +BMGC_DS20267,BMG_DS078185,,,,,,,,,"Disease Models, Animal",MeSH ID:D004195,,,, +BMGC_DS20268,BMG_DS078186,,,,,,,,,Disease Susceptibility,MeSH ID:D004198,,,, +BMGC_DS20269,BMG_DS078189,,,,,,,,,Dizziness,MeSH ID:D004244,,,, +BMGC_DS20270,BMG_DS078191,,,,,,,,,Drug Hypersensitivity,MeSH ID:D004342,,,, +BMGC_DS20271,BMG_DS078192,,,,,,,,,"Ductus Arteriosus, Patent",MeSH ID:D004374,,,, +BMGC_DS20272,BMG_DS078194,,,,,,,,,"Dwarfism, Pituitary",MeSH ID:D004393,,,, +BMGC_DS20273,BMG_DS078195,,,,,,,,,Dysarthria,MeSH ID:D004401,,,, +BMGC_DS20274,BMG_DS078197,,,,,,,,,Dysgeusia,MeSH ID:D004408,,,, +BMGC_DS20275,BMG_DS078198,,,,,,,,,Dyslexia,MeSH ID:D004410,,,, +BMGC_DS20276,BMG_DS078201,,,,,,,,,Dyspepsia,MeSH ID:D004415,,,, +BMGC_DS20277,BMG_DS078203,,,,,,,,,Dyspnea,MeSH ID:D004417,,,, +BMGC_DS20278,BMG_DS078204,,,,,,,,,Dystocia,MeSH ID:D004420,,,, +BMGC_DS20279,BMG_DS078205,,,,,,,,,Dystonia,MeSH ID:D004421,,,, +BMGC_DS20280,BMG_DS078207,,,,,,,auditory system cancer,MONDO:0004532,Ear Neoplasms,MeSH ID:D004428,,,, +BMGC_DS20281,BMG_DS078209,,,,,,,,,Ebstein Anomaly,MeSH ID:D004437,,,, +BMGC_DS20282,BMG_DS078212,,,,,,,,,Ectopia Lentis,MeSH ID:D004479,,,, +BMGC_DS20283,BMG_DS078213,,,,,,,,,Ectromelia,MeSH ID:D004480,,,, +BMGC_DS20284,BMG_DS078214,,,,,,,,,Edema,MeSH ID:D004487,,,, +BMGC_DS20285,BMG_DS078215,,,,,,,,,"Edema, Cardiac",MeSH ID:D004489,,,, +BMGC_DS20286,BMG_DS078217,,,,,,,,,Emaciation,MeSH ID:D004614,,,, +BMGC_DS20287,BMG_DS078218,,,,,,,,,Embolism,MeSH ID:D004617,,,, +BMGC_DS20288,BMG_DS078222,,,,,,,,,Emphysema,MeSH ID:D004646,,,, +BMGC_DS20289,BMG_DS078224,,,,,,,,,Encephalocele,MeSH ID:D004677,,,, +BMGC_DS20290,BMG_DS078227,,,,,,,,,Endocardial Cushion Defects,MeSH ID:D004694,,,, +BMGC_DS20291,BMG_DS078229,,,,,,,,,Endomyocardial Fibrosis,MeSH ID:D004719,,,, +BMGC_DS20292,BMG_DS078231,,,,,,,,,Ependymoma,MeSH ID:D004806,,,, +BMGC_DS20293,BMG_DS078233,,,,,,,,,Epidermodysplasia Verruciformis,MeSH ID:D004819,,,, +BMGC_DS20294,BMG_DS078234,,,,,,,,,Epidermolysis Bullosa,MeSH ID:D004820,,,, +BMGC_DS20295,BMG_DS078236,,,,,,,,,Epistaxis,MeSH ID:D004844,,,, +BMGC_DS20296,BMG_DS078242,,,,,,,,,"Leukemia, Erythroblastic, Acute",MeSH ID:D004915,,,, +BMGC_DS20297,BMG_DS078243,,,,,,,,,Esophageal Atresia,MeSH ID:D004933,,,, +BMGC_DS20298,BMG_DS078247,,,,,,,,,Esophageal Neoplasms,MeSH ID:D004938,,,, +BMGC_DS20299,BMG_DS078249,,,,,,,,,Exanthema,MeSH ID:D005076,,,, +BMGC_DS20300,BMG_DS078250,,,,,,,,,"Exostoses, Multiple Hereditary",MeSH ID:D005097,,,, +BMGC_DS20301,BMG_DS078251,,,,,,,,,Extravasation of Diagnostic and Therapeutic Materials,MeSH ID:D005119,,,, +BMGC_DS20302,BMG_DS078252,,,,,,,,,Eye Abnormalities,MeSH ID:D005124,,,, +BMGC_DS20303,BMG_DS078253,,,,,,,,,Eye Burns,MeSH ID:D005126,,,, +BMGC_DS20304,BMG_DS078254,,,,,,,,,Eye Diseases,MeSH ID:D005128,visual impairment and progressive phthisis bulbi,DOID:0070356,, +BMGC_DS20305,BMG_DS078256,,,,,,,,,Eye Hemorrhage,MeSH ID:D005130,,,, +BMGC_DS20306,BMG_DS078257,,,,,,,,,Eye Injuries,MeSH ID:D005131,,,, +BMGC_DS20307,BMG_DS078258,,,,,,,,,Eye Manifestations,MeSH ID:D005132,,,, +BMGC_DS20308,BMG_DS078259,,,,,,,,,Eye Neoplasms,MeSH ID:D005134,,,, +BMGC_DS20309,BMG_DS078261,,,,,,,,,Facial Asymmetry,MeSH ID:D005146,,,, +BMGC_DS20310,BMG_DS078262,,,,,,,,,Facial Injuries,MeSH ID:D005151,,,, +BMGC_DS20311,BMG_DS078264,,,,,,,,,Facial Pain,MeSH ID:D005157,,,, +BMGC_DS20312,BMG_DS078265,,,,,,,,,Factor V Deficiency,MeSH ID:D005166,,,, +BMGC_DS20313,BMG_DS078266,,,,,,,,,Factor XI Deficiency,MeSH ID:D005173,,,, +BMGC_DS20314,BMG_DS078267,,,,,,,,,Factor XIII Deficiency,MeSH ID:D005177,,,, +BMGC_DS20315,BMG_DS078269,,,,,,,,,Fasciculation,MeSH ID:D005207,,,, +BMGC_DS20316,BMG_DS078271,,,,,,,,,Fatigue,MeSH ID:D005221,,,, +BMGC_DS20317,BMG_DS078274,,,,,,,,,Feminization,MeSH ID:D005262,,,, +BMGC_DS20318,BMG_DS078275,,,,,,,,,Femoral Fractures,MeSH ID:D005264,,,, +BMGC_DS20319,BMG_DS078278,,,,,,,,,Fetal Death,MeSH ID:D005313,,,, +BMGC_DS20320,BMG_DS078279,,,,,,,,,Fetal Distress,MeSH ID:D005316,,,, +BMGC_DS20321,BMG_DS078280,,,,,,,,,Fetal Growth Retardation,MeSH ID:D005317,,,, +BMGC_DS20322,BMG_DS078281,,,,,,,,,Fetal Macrosomia,MeSH ID:D005320,,,, +BMGC_DS20323,BMG_DS078284,,,,,,,,,Fever,MeSH ID:D005334,,,, +BMGC_DS20324,BMG_DS078286,,,,,,,,,Fibroma,MeSH ID:D005350,fibroma,DOID:0050871,, +BMGC_DS20325,BMG_DS078288,,,,,,,,,Fibrosarcoma,MeSH ID:D005354,,,, +BMGC_DS20326,BMG_DS078289,,,,,,,,,Finger Injuries,MeSH ID:D005383,,,, +BMGC_DS20327,BMG_DS078290,,,,,,,,,Fistula,MeSH ID:D005402,,,, +BMGC_DS20328,BMG_DS078292,,,,,,,,,Flatfoot,MeSH ID:D005413,,,, +BMGC_DS20329,BMG_DS078294,,,,,,,,,Fluoride Poisoning,MeSH ID:D005458,,,, +BMGC_DS20330,BMG_DS078295,,,,,,,,,Flushing,MeSH ID:D005483,,,, +BMGC_DS20331,BMG_DS078297,,,,,,,,,Follicular Cyst,MeSH ID:D005497,,,, +BMGC_DS20332,BMG_DS078298,,,,,,,,,Foodborne Diseases,MeSH ID:D005517,,,, +BMGC_DS20333,BMG_DS078301,,,,,,,,,"Foot Deformities, Congenital",MeSH ID:D005532,,,, +BMGC_DS20334,BMG_DS078305,,,,,,,,,Foreign-Body Reaction,MeSH ID:D005549,,,, +BMGC_DS20335,BMG_DS078307,,,,,,,,,"Fractures, Closed",MeSH ID:D005596,,,, +BMGC_DS20336,BMG_DS078312,,,,,,,,,Fructose Intolerance,MeSH ID:D005633,,,, +BMGC_DS20337,BMG_DS078316,,,,,,,,,Gallbladder Neoplasms,MeSH ID:D005706,,,, +BMGC_DS20338,BMG_DS078318,,,,,,,,,Gas Poisoning,MeSH ID:D005739,,,, +BMGC_DS20339,BMG_DS078319,,,,,,,,,Gastric Fistula,MeSH ID:D005747,,,, +BMGC_DS20340,BMG_DS078320,,,,,,,,,Gastroesophageal Reflux,MeSH ID:D005764,,,, +BMGC_DS20341,BMG_DS078321,,,,,,,,,Gastrointestinal Neoplasms,MeSH ID:D005770,,,, +BMGC_DS20342,BMG_DS078322,,,,,,,,,"Genital Neoplasms, Female",MeSH ID:D005833,,,, +BMGC_DS20343,BMG_DS078325,,,,,,,,,Castleman Disease,MeSH ID:D005871,,,, +BMGC_DS20344,BMG_DS078326,,,,,,,,,Tourette Syndrome,MeSH ID:D005879,,,, +BMGC_DS20345,BMG_DS078327,,,,,,,,,Gingival Hemorrhage,MeSH ID:D005884,,,, +BMGC_DS20346,BMG_DS078328,,,,,,,,,Gingival Hyperplasia,MeSH ID:D005885,,,, +BMGC_DS20347,BMG_DS078331,,,,,,,,,Gingival Recession,MeSH ID:D005889,,,, +BMGC_DS20348,BMG_DS078332,,,,,,,,,Glioblastoma,MeSH ID:D005909,,,, +BMGC_DS20349,BMG_DS078333,,,,,,,,,Glioma,MeSH ID:D005910,,,, +BMGC_DS20350,BMG_DS078334,,,,,,,,,Gliosis,MeSH ID:D005911,,,, +BMGC_DS20351,BMG_DS078337,,,,,,,,,Glossalgia,MeSH ID:D005926,,,, +BMGC_DS20352,BMG_DS078338,,,,,,,,,Glucagonoma,MeSH ID:D005935,,,, +BMGC_DS20353,BMG_DS078339,,,,,,,,,Glucosephosphate Dehydrogenase Deficiency,MeSH ID:D005955,,,, +BMGC_DS20354,BMG_DS078340,,,,,,,,,Glycosuria,MeSH ID:D006029,,,, +BMGC_DS20355,BMG_DS078341,,,,,,,,,"Glycosuria, Renal",MeSH ID:D006030,,,, +BMGC_DS20356,BMG_DS078343,,,,,,,,,Gonadal Dysgenesis,MeSH ID:D006059,,,, +BMGC_DS20357,BMG_DS078344,,,,,,,,,"Graft Occlusion, Vascular",MeSH ID:D006083,,,, +BMGC_DS20358,BMG_DS078345,,,,,,,,,Granuloma,MeSH ID:D006099,,,, +BMGC_DS20359,BMG_DS078346,,,,,,,,,"Granuloma, Plasma Cell",MeSH ID:D006104,,,, +BMGC_DS20360,BMG_DS078347,,,,,,,,,Granulosa Cell Tumor,MeSH ID:D006106,,,, +BMGC_DS20361,BMG_DS078348,,,,,,,,,Growth Disorders,MeSH ID:D006130,,,, +BMGC_DS20362,BMG_DS078349,,,,,,,,,Halitosis,MeSH ID:D006209,,,, +BMGC_DS20363,BMG_DS078350,,,,,,,,,Hallucinations,MeSH ID:D006212,,,, +BMGC_DS20364,BMG_DS078352,,,,,,,,,Hamartoma,MeSH ID:D006222,,,, +BMGC_DS20365,BMG_DS078355,,,,,,,,,"Hand Deformities, Congenital",MeSH ID:D006228,,,, +BMGC_DS20366,BMG_DS078357,,,,,,,,,"Rhinitis, Allergic, Seasonal",MeSH ID:D006255,,,, +BMGC_DS20367,BMG_DS078358,,,,,,,,,Head and Neck Neoplasms,MeSH ID:D006258,,,, +BMGC_DS20368,BMG_DS078359,,,,,,,,,Craniocerebral Trauma,MeSH ID:D006259,,,, +BMGC_DS20369,BMG_DS078360,,,,,,,,,Headache,MeSH ID:D006261,,,, +BMGC_DS20370,BMG_DS078361,,,,,,,,,"Hearing Loss, Conductive",MeSH ID:D006314,,,, +BMGC_DS20371,BMG_DS078363,,,,,,,,,"Hearing Loss, Noise-Induced",MeSH ID:D006317,,,, +BMGC_DS20372,BMG_DS078364,,,,,,,,,"Hearing Loss, Sensorineural",MeSH ID:D006319,,,, +BMGC_DS20373,BMG_DS078365,,,,,,,,,"Heart Defects, Congenital",MeSH ID:D006330,,,, +BMGC_DS20374,BMG_DS078366,,,,,,,,,Cardiomegaly,MeSH ID:D006332,,,, +BMGC_DS20375,BMG_DS078367,,,,,,,,,Heart Injuries,MeSH ID:D006335,,,, +BMGC_DS20376,BMG_DS078369,,,,,,,,,Heart Septal Defects,MeSH ID:D006343,,,, +BMGC_DS20377,BMG_DS078370,,,,,,,,,"Heart Septal Defects, Atrial",MeSH ID:D006344,,,, +BMGC_DS20378,BMG_DS078371,,,,,,,,,"Heart Septal Defects, Ventricular",MeSH ID:D006345,,,, +BMGC_DS20379,BMG_DS078372,,,,,,,,,Heart Valve Diseases,MeSH ID:D006349,,,, +BMGC_DS20380,BMG_DS078373,,,,,,,,,Heartburn,MeSH ID:D006356,,,, +BMGC_DS20381,BMG_DS078376,,,,,,,,,Hemangioendothelioma,MeSH ID:D006390,,,, +BMGC_DS20382,BMG_DS078377,,,,,,,,,Hemangioma,MeSH ID:D006391,,,, +BMGC_DS20383,BMG_DS078379,,,,,,,,,Hemangiopericytoma,MeSH ID:D006393,,,, +BMGC_DS20384,BMG_DS078380,,,,,,,,,Hemangiosarcoma,MeSH ID:D006394,,,, +BMGC_DS20385,BMG_DS078382,,,,,,,,,Hematemesis,MeSH ID:D006396,,,, +BMGC_DS20386,BMG_DS078384,,,,,,,,,Hematoma,MeSH ID:D006406,,,, +BMGC_DS20387,BMG_DS078385,,,,,,,,,"Hematoma, Epidural, Cranial",MeSH ID:D006407,,,, +BMGC_DS20388,BMG_DS078386,,,,,,,,,"Hematoma, Subdural",MeSH ID:D006408,,,, +BMGC_DS20389,BMG_DS078389,,,,,,,,,Hemoglobinuria,MeSH ID:D006456,,,, +BMGC_DS20390,BMG_DS078390,,,,,,,,,Hemolysis,MeSH ID:D006461,,,, +BMGC_DS20391,BMG_DS078391,,,,,,,,,Hemoperitoneum,MeSH ID:D006465,,,, +BMGC_DS20392,BMG_DS078393,,,,,,,,,Hemorrhage,MeSH ID:D006470,,,, +BMGC_DS20393,BMG_DS078395,,,,,,,,,Postpartum Hemorrhage,MeSH ID:D006473,,,, +BMGC_DS20394,BMG_DS078396,,,,,,,,,Hemothorax,MeSH ID:D006491,,,, +BMGC_DS20395,BMG_DS078397,,,,,,,,,"Carcinoma, Hepatocellular",MeSH ID:D006528,,,, +BMGC_DS20396,BMG_DS078398,,,,,,,,,Hepatomegaly,MeSH ID:D006529,,,, +BMGC_DS20397,BMG_DS078400,,,,,,,,,"Hernia, Diaphragmatic",MeSH ID:D006548,,,, +BMGC_DS20398,BMG_DS078404,,,,,,,obsolete umbilical hernia,MONDO:0000747,"Hernia, Umbilical",MeSH ID:D006554,,,, +BMGC_DS20399,BMG_DS078406,,,,,,,,,Heroin Dependence,MeSH ID:D006556,,,, +BMGC_DS20400,BMG_DS078407,,,,,,,,,Herpes Simplex,MeSH ID:D006561,,,, +BMGC_DS20401,BMG_DS078409,,,,,,,,,Hiccup,MeSH ID:D006606,,,, +BMGC_DS20402,BMG_DS078414,,,,,,,hip fracture,MONDO:0005327,Hip Fractures,MeSH ID:D006620,,,, +BMGC_DS20403,BMG_DS078415,,,,,,,,,von Hippel-Lindau Disease,MeSH ID:D006623,,,, +BMGC_DS20404,BMG_DS078416,,,,,,,,,HIV Seropositivity,MeSH ID:D006679,,,, +BMGC_DS20405,BMG_DS078418,,,,,,,Hodgkins lymphoma,MONDO:0004952,Hodgkin Disease,MeSH ID:D006689,,,, +BMGC_DS20406,BMG_DS078420,,,,,,,,,Hydatidiform Mole,MeSH ID:D006828,,,, +BMGC_DS20407,BMG_DS078421,,,,,,,,,Polyhydramnios,MeSH ID:D006831,,,, +BMGC_DS20408,BMG_DS078422,,,,,,,,,Hydranencephaly,MeSH ID:D006832,,,, +BMGC_DS20409,BMG_DS078424,,,,,,,,,Testicular Hydrocele,MeSH ID:D006848,,,, +BMGC_DS20410,BMG_DS078427,,,,,,,,,Hyperalgesia,MeSH ID:D006930,,,, +BMGC_DS20411,BMG_DS078428,,,,,,,,,Hypercapnia,MeSH ID:D006935,,,, +BMGC_DS20412,BMG_DS078430,,,,,,,,,Hyperesthesia,MeSH ID:D006941,,,, +BMGC_DS20413,BMG_DS078431,,,,,,,,,Hyperhidrosis,MeSH ID:D006945,,,, +BMGC_DS20414,BMG_DS078432,,,,,,,,,Hyperkalemia,MeSH ID:D006947,,,, +BMGC_DS20415,BMG_DS078433,,,,,,,,,Hyperphagia,MeSH ID:D006963,,,, +BMGC_DS20416,BMG_DS078434,,,,,,,,,Hyperplasia,MeSH ID:D006965,,,, +BMGC_DS20417,BMG_DS078435,,,,,,,,,Hypersensitivity,MeSH ID:D006967,,,, +BMGC_DS20418,BMG_DS078436,,,,,,,,,"Hypersensitivity, Delayed",MeSH ID:D006968,,,, +BMGC_DS20419,BMG_DS078437,,,,,,,,,"Hypersensitivity, Immediate",MeSH ID:D006969,,,, +BMGC_DS20420,BMG_DS078438,,,,,,,obsolete hypertelorism,MONDO:0007778,Hypertelorism,MeSH ID:D006972,,,,OMIM ID:145400 +BMGC_DS20421,BMG_DS078439,,,,,,,,,Hypertension,MeSH ID:D006973,,,, +BMGC_DS20422,BMG_DS078440,,,,,,,,,"Hypertension, Pulmonary",MeSH ID:D006976,,,, +BMGC_DS20423,BMG_DS078441,,,,,,,,,"Hypertension, Renal",MeSH ID:D006977,,,, +BMGC_DS20424,BMG_DS078442,,,,,,,,,Hypertrophy,MeSH ID:D006984,,,, +BMGC_DS20425,BMG_DS078443,,,,,,,,,Hyperventilation,MeSH ID:D006985,,,, +BMGC_DS20426,BMG_DS078444,,,,,,,,,Hypesthesia,MeSH ID:D006987,,,, +BMGC_DS20427,BMG_DS078445,,,,,,,,,Hyphema,MeSH ID:D006988,,,, +BMGC_DS20428,BMG_DS078446,,,,,,,,,Hypokalemia,MeSH ID:D007008,,,, +BMGC_DS20429,BMG_DS078448,,,,,,,,,Hypospadias,MeSH ID:D007021,,,, +BMGC_DS20430,BMG_DS078449,,,,,,,,,Hypotension,MeSH ID:D007022,,,, +BMGC_DS20431,BMG_DS078451,,,,,,,,,Hypothermia,MeSH ID:D007035,,,, +BMGC_DS20432,BMG_DS078452,,,,,,,,,Hypoventilation,MeSH ID:D007040,,,, +BMGC_DS20433,BMG_DS078456,,,,,,,,,Immunoblastic Lymphadenopathy,MeSH ID:D007119,,,, +BMGC_DS20434,BMG_DS078457,,,,,,,,,Immunoproliferative Disorders,MeSH ID:D007160,,,, +BMGC_DS20435,BMG_DS078459,,,,,,,,,Erectile Dysfunction,MeSH ID:D007172,,,, +BMGC_DS20436,BMG_DS078460,,,,,,,,,Incontinentia Pigmenti,MeSH ID:D007184,,,, +BMGC_DS20437,BMG_DS078462,,,,,,,,,"Infant, Newborn, Diseases",MeSH ID:D007232,,,, +BMGC_DS20438,BMG_DS078463,,,,,,,,,Infarction,MeSH ID:D007238,,,, +BMGC_DS20439,BMG_DS078464,,,,,,,,,Infections,MeSH ID:D007239,,,, +BMGC_DS20440,BMG_DS078465,,,,,,,,,Infertility,MeSH ID:D007246,,,, +BMGC_DS20441,BMG_DS078466,,,,,,,,,"Infertility, Male",MeSH ID:D007248,,,, +BMGC_DS20442,BMG_DS078467,,,,,,,,,Inflammation,MeSH ID:D007249,,,, +BMGC_DS20443,BMG_DS078468,,,,,,,,,Insect Bites and Stings,MeSH ID:D007299,,,, +BMGC_DS20444,BMG_DS078469,,,,,,,,,Insulin Resistance,MeSH ID:D007333,,,, +BMGC_DS20445,BMG_DS078470,,,,,,,,,Insulinoma,MeSH ID:D007340,,,, +BMGC_DS20446,BMG_DS078471,,,,,,,,,Intestinal Neoplasms,MeSH ID:D007414,,,, +BMGC_DS20447,BMG_DS078472,,,,,,,,,Intestinal Polyps,MeSH ID:D007417,,,, +BMGC_DS20448,BMG_DS078473,,,,,,,,,Intraoperative Complications,MeSH ID:D007431,,,, +BMGC_DS20449,BMG_DS078475,,,,,,,,,Ischemia,MeSH ID:D007511,,,, +BMGC_DS20450,BMG_DS078476,,,,,,,,,"Adenoma, Islet Cell",MeSH ID:D007516,,,, +BMGC_DS20451,BMG_DS078477,,,,,,,,,Jaw Abnormalities,MeSH ID:D007569,,,, +BMGC_DS20452,BMG_DS078482,,,,,,,,,Joint Instability,MeSH ID:D007593,,,, +BMGC_DS20453,BMG_DS078484,,,,,,,,,Kearns-Sayre Syndrome,MeSH ID:D007625,,,, +BMGC_DS20454,BMG_DS078485,,,,,,,,,Keloid,MeSH ID:D007627,,,, +BMGC_DS20455,BMG_DS078486,,,,,,,,,,MeSH ID:D007635,herpes simplex virus keratitis,DOID:0080158,, +BMGC_DS20456,BMG_DS078487,,,,,,,,,Keratoacanthoma,MeSH ID:D007636,,,, +BMGC_DS20457,BMG_DS078488,,,,,,,,,Kidney Calculi,MeSH ID:D007669,,,, +BMGC_DS20458,BMG_DS078489,,,,,,,,,Kidney Neoplasms,MeSH ID:D007680,,,, +BMGC_DS20459,BMG_DS078493,,,,,,,,,Kyphosis,MeSH ID:D007738,,,, +BMGC_DS20460,BMG_DS078495,,,,,,,,,"Obstetric Labor, Premature",MeSH ID:D007752,,,, +BMGC_DS20461,BMG_DS078496,,,,,,,,,Labyrinth Diseases,MeSH ID:D007759,,,, +BMGC_DS20462,BMG_DS078497,,,,,,,,,Lacrimal Duct Obstruction,MeSH ID:D007767,,,, +BMGC_DS20463,BMG_DS078498,,,,,,,"lameness, non-human animal",MONDO:0024953,"Lameness, Animal",MeSH ID:D007794,,,, +BMGC_DS20464,BMG_DS078499,,,,,,,,,Language Disorders,MeSH ID:D007806,,,, +BMGC_DS20465,BMG_DS078500,,,,,,,,,Laryngeal Edema,MeSH ID:D007819,,,, +BMGC_DS20466,BMG_DS078501,,,,,,,,,Laryngeal Neoplasms,MeSH ID:D007822,,,, +BMGC_DS20467,BMG_DS078503,,,,,,,lead poisoning,MONDO:0018019,Lead Poisoning,MeSH ID:D007855,,,, +BMGC_DS20468,BMG_DS078504,,,,,,,,,Learning Disabilities,MeSH ID:D007859,,,, +BMGC_DS20469,BMG_DS078507,,,,,,,,,Legg-Calve-Perthes Disease,MeSH ID:D007873,,,, +BMGC_DS20470,BMG_DS078508,,,,,,,,,Leiomyoma,MeSH ID:D007889,,,, +BMGC_DS20471,BMG_DS078509,,,,,,,,,Leiomyosarcoma,MeSH ID:D007890,,,, +BMGC_DS20472,BMG_DS078510,,,,,,,,,"Leishmaniasis, Mucocutaneous",MeSH ID:D007897,,,, +BMGC_DS20473,BMG_DS078511,,,,,,,,,Leukemia,MeSH ID:D007938,,,, +BMGC_DS20474,BMG_DS078512,,,,,,,,,Leukemia L1210,MeSH ID:D007939,,,, +BMGC_DS20475,BMG_DS078515,,,,,,,,,"Leukemia, Experimental",MeSH ID:D007942,,,, +BMGC_DS20476,BMG_DS078516,,,,,,,,,"Leukemia, Hairy Cell",MeSH ID:D007943,,,, +BMGC_DS20477,BMG_DS078517,,,,,,,,,"Leukemia, Lymphoid",MeSH ID:D007945,,,, +BMGC_DS20478,BMG_DS078519,,,,,,,,,"Leukemia, Megakaryoblastic, Acute",MeSH ID:D007947,,,, +BMGC_DS20479,BMG_DS078520,,,,,,,,,"Leukemia, Monocytic, Acute",MeSH ID:D007948,,,, +BMGC_DS20480,BMG_DS078521,,,,,,,,,"Leukemia, Myeloid",MeSH ID:D007951,,,, +BMGC_DS20481,BMG_DS078523,,,,,,,,,"Leukemia, Radiation-Induced",MeSH ID:D007953,,,, +BMGC_DS20482,BMG_DS078525,,,,,,,,,"Leukoplakia, Oral",MeSH ID:D007972,,,, +BMGC_DS20483,BMG_DS078528,,,,,,,,,Leydig Cell Tumor,MeSH ID:D007984,,,, +BMGC_DS20484,BMG_DS078529,,,,,,,,,Linitis Plastica,MeSH ID:D008039,,,, +BMGC_DS20485,BMG_DS078531,,,,,,,,,Lipoma,MeSH ID:D008067,,,, +BMGC_DS20486,BMG_DS078532,,,,,,,,,Liposarcoma,MeSH ID:D008080,,,, +BMGC_DS20487,BMG_DS078533,,,,,,,,,"Liver Cirrhosis, Experimental",MeSH ID:D008106,,,, +BMGC_DS20488,BMG_DS078534,,,,,,,,,Liver Diseases,MeSH ID:D008107,,,, +BMGC_DS20489,BMG_DS078535,,,,,,,,,Liver Neoplasms,MeSH ID:D008113,,,, +BMGC_DS20490,BMG_DS078536,,,,,,,,,"Liver Neoplasms, Experimental",MeSH ID:D008114,,,, +BMGC_DS20491,BMG_DS078538,,,,,,,,,Long QT Syndrome,MeSH ID:D008133,,,, +BMGC_DS20492,BMG_DS078539,,,,,,,,,Lordosis,MeSH ID:D008141,,,, +BMGC_DS20493,BMG_DS078545,,,,,,,,,Lung Diseases,MeSH ID:D008171,,,, +BMGC_DS20494,BMG_DS078546,,,,,,,,,Lung Neoplasms,MeSH ID:D008175,,,, +BMGC_DS20495,BMG_DS078547,,,,,,,,,"Lupus Erythematosus, Discoid",MeSH ID:D008179,,,, +BMGC_DS20496,BMG_DS078551,,,,,,,,,Lymphatic Metastasis,MeSH ID:D008207,,,, +BMGC_DS20497,BMG_DS078552,,,,,,,,,Lymphoma,MeSH ID:D008223,,,, +BMGC_DS20498,BMG_DS078553,,,,,,,,,"Lymphoma, Follicular",MeSH ID:D008224,follicular lymphoma,DOID:0050873,, +BMGC_DS20499,BMG_DS078554,,,,,,,,,"Lymphoma, Non-Hodgkin",MeSH ID:D008228,,,, +BMGC_DS20500,BMG_DS078556,,,,,,,,,Lymphoproliferative Disorders,MeSH ID:D008232,,,, +BMGC_DS20501,BMG_DS078557,,,,,,,obsolete macroglobulinemia,MONDO:0005190,Waldenstrom Macroglobulinemia,MeSH ID:D008258,,,, +BMGC_DS20502,BMG_DS078558,,,,,,,,,Macrostomia,MeSH ID:D008265,,,, +BMGC_DS20503,BMG_DS078559,,,,,,,,,Macular Degeneration,MeSH ID:D008268,,,, +BMGC_DS20504,BMG_DS078562,,,,,,,,,Malignant Hyperthermia,MeSH ID:D008305,,,, +BMGC_DS20505,BMG_DS078563,,,,,,,,,Malocclusion,MeSH ID:D008310,,,, +BMGC_DS20506,BMG_DS078567,,,,,,,,,"Mammary Neoplasms, Experimental",MeSH ID:D008325,,,, +BMGC_DS20507,BMG_DS078570,,,,,,,,,Mandibular Neoplasms,MeSH ID:D008339,,,, +BMGC_DS20508,BMG_DS078572,,,,,,,,,Mastocytosis,MeSH ID:D008415,,,, +BMGC_DS20509,BMG_DS078574,,,,,,,,,Maxillary Neoplasms,MeSH ID:D008441,,,, +BMGC_DS20510,BMG_DS078575,,,,,,,,,Maxillary Sinus Neoplasms,MeSH ID:D008444,,,, +BMGC_DS20511,BMG_DS078578,,,,,,,,,Mediastinal Neoplasms,MeSH ID:D008479,,,, +BMGC_DS20512,BMG_DS078579,,,,,,,,,Medulloblastoma,MeSH ID:D008527,,,, +BMGC_DS20513,BMG_DS078580,,,,,,,,,Megacolon,MeSH ID:D008531,,,, +BMGC_DS20514,BMG_DS078582,,,,,,,,,Melanoma,MeSH ID:D008545,,,, +BMGC_DS20515,BMG_DS078583,,,,,,,,,"Melanoma, Experimental",MeSH ID:D008546,,,, +BMGC_DS20516,BMG_DS078584,,,,,,,,,Melena,MeSH ID:D008551,,,, +BMGC_DS20517,BMG_DS078585,,,,,,,,,Memory Disorders,MeSH ID:D008569,,,, +BMGC_DS20518,BMG_DS078587,,,,,,,,,Meningioma,MeSH ID:D008579,,,, +BMGC_DS20519,BMG_DS078588,,,,,,,,,Meningism,MeSH ID:D008580,,,, +BMGC_DS20520,BMG_DS078590,,,,,,,,,Meningocele,MeSH ID:D008588,,,, +BMGC_DS20521,BMG_DS078591,,,,,,,,,Meningomyelocele,MeSH ID:D008591,,,, +BMGC_DS20522,BMG_DS078592,,,,,,,,,Menorrhagia,MeSH ID:D008595,,,, +BMGC_DS20523,BMG_DS078593,,,,,,,,,Intellectual Disability,MeSH ID:D008607,,,, +BMGC_DS20524,BMG_DS078594,,,,,,,mercury poisoning,MONDO:0018020,Mercury Poisoning,MeSH ID:D008630,,,, +BMGC_DS20525,BMG_DS078599,,,,,,,,,Mesothelioma,MeSH ID:D008654,,,, +BMGC_DS20526,BMG_DS078600,,,,,,,,,Metaplasia,MeSH ID:D008679,,,, +BMGC_DS20527,BMG_DS078601,,,,,,,,,Metrorrhagia,MeSH ID:D008796,,,, +BMGC_DS20528,BMG_DS078602,,,,,,,,,Micrognathism,MeSH ID:D008844,,,, +BMGC_DS20529,BMG_DS078603,,,,,,,,,Microphthalmos,MeSH ID:D008850,,,, +BMGC_DS20530,BMG_DS078606,,,,,,,,,Monoclonal Gammopathy of Undetermined Significance,MeSH ID:D008998,,,, +BMGC_DS20531,BMG_DS078607,,,,,,,,,Monosomy,MeSH ID:D009006,,,, +BMGC_DS20532,BMG_DS078608,,,,,,,,,"Abnormalities, Severe Teratoid",MeSH ID:D009008,,,, +BMGC_DS20533,BMG_DS078610,,,,,,,,,Morphine Dependence,MeSH ID:D009021,,,, +BMGC_DS20534,BMG_DS078611,,,,,,,,,"Fluorosis, Dental",MeSH ID:D009050,,,, +BMGC_DS20535,BMG_DS078612,,,,,,,,,Mouth Abnormalities,MeSH ID:D009056,,,, +BMGC_DS20536,BMG_DS078613,,,,,,,,,Mouth Breathing,MeSH ID:D009058,,,, +BMGC_DS20537,BMG_DS078614,,,,,,,,,Mouth Neoplasms,MeSH ID:D009062,,,, +BMGC_DS20538,BMG_DS078616,,,,,,,,,Mucocele,MeSH ID:D009078,,,, +BMGC_DS20539,BMG_DS078617,,,,,,,,,Multiple Myeloma,MeSH ID:D009101,,,, +BMGC_DS20540,BMG_DS078619,,,,,,,,,Muscle Cramp,MeSH ID:D009120,,,, +BMGC_DS20541,BMG_DS078620,,,,,,,,,Muscle Hypertonia,MeSH ID:D009122,,,, +BMGC_DS20542,BMG_DS078621,,,,,,,,,Muscle Rigidity,MeSH ID:D009127,,,, +BMGC_DS20543,BMG_DS078622,,,,,,,,,Muscle Spasticity,MeSH ID:D009128,,,, +BMGC_DS20544,BMG_DS078623,,,,,,,,,Muscular Atrophy,MeSH ID:D009133,,,, +BMGC_DS20545,BMG_DS078624,,,,,,,,,Musculoskeletal Abnormalities,MeSH ID:D009139,,,, +BMGC_DS20546,BMG_DS078626,,,,,,,,,Mycosis Fungoides,MeSH ID:D009182,,,, +BMGC_DS20547,BMG_DS078627,,,,,,,,,Myelodysplastic Syndromes,MeSH ID:D009190,,,, +BMGC_DS20548,BMG_DS078628,,,,,,,,,Myeloproliferative Disorders,MeSH ID:D009196,,,, +BMGC_DS20549,BMG_DS078630,,,,,,,obsolete hereditary myoglobinuria,MONDO:0000866,Myoglobinuria,MeSH ID:D009212,myoglobinuria,DOID:0080108,, +BMGC_DS20550,BMG_DS078631,,,,,,,,,Myoma,MeSH ID:D009214,,,, +BMGC_DS20551,BMG_DS078633,,,,,,,,,Myotonia,MeSH ID:D009222,,,, +BMGC_DS20552,BMG_DS078637,,,,,,,,,Opioid-Related Disorders,MeSH ID:D009293,,,, +BMGC_DS20553,BMG_DS078638,,,,,,,,,Nasal Polyps,MeSH ID:D009298,,,, +BMGC_DS20554,BMG_DS078639,,,,,,,,,Nasopharyngeal Neoplasms,MeSH ID:D009303,,,, +BMGC_DS20555,BMG_DS078640,,,,,,,,,Nausea,MeSH ID:D009325,,,, +BMGC_DS20556,BMG_DS078641,,,,,,,,,Necrosis,MeSH ID:D009336,,,, +BMGC_DS20557,BMG_DS078643,,,,,,,,,Nematode Infections,MeSH ID:D009349,,,, +BMGC_DS20558,BMG_DS078644,,,,,,,,,"Neoplastic Cells, Circulating",MeSH ID:D009360,,,, +BMGC_DS20559,BMG_DS078645,,,,,,,,,Neoplasm Invasiveness,MeSH ID:D009361,,,, +BMGC_DS20560,BMG_DS078646,,,,,,,,,Neoplasm Metastasis,MeSH ID:D009362,,,, +BMGC_DS20561,BMG_DS078647,,,,,,,,,"Neoplasm Recurrence, Local",MeSH ID:D009364,,,, +BMGC_DS20562,BMG_DS078648,,,,,,,,,"Neoplasm Regression, Spontaneous",MeSH ID:D009365,,,, +BMGC_DS20563,BMG_DS078649,,,,,,,,,Neoplasm Seeding,MeSH ID:D009366,,,, +BMGC_DS20564,BMG_DS078650,,,,,,,,,Neoplasms,MeSH ID:D009369,,,, +BMGC_DS20565,BMG_DS078652,,,,,,,,,Neoplasms by Site,MeSH ID:D009371,organ system cancer,DOID:0050686,, +BMGC_DS20566,BMG_DS078654,,,,,,,obsolete germ cell and embryonal cancer,MONDO:0002510,"Neoplasms, Germ Cell and Embryonal",MeSH ID:D009373,,,, +BMGC_DS20567,BMG_DS078655,,,,,,,,,"Neoplasms, Experimental",MeSH ID:D009374,,,, +BMGC_DS20568,BMG_DS078656,,,,,,,,,"Neoplasms, Glandular and Epithelial",MeSH ID:D009375,,,, +BMGC_DS20569,BMG_DS078657,,,,,,,,,"Neoplasms, Hormone-Dependent",MeSH ID:D009376,,,, +BMGC_DS20570,BMG_DS078658,,,,,,,,,Multiple Endocrine Neoplasia,MeSH ID:D009377,multiple endocrine neoplasia,DOID:3125,, +BMGC_DS20571,BMG_DS078662,,,,,,,,,"Neoplasms, Radiation-Induced",MeSH ID:D009381,,,, +BMGC_DS20572,BMG_DS078665,,,,,,,,,Neoplastic Processes,MeSH ID:D009385,,,, +BMGC_DS20573,BMG_DS078667,,,,,,,,,"Neovascularization, Pathologic",MeSH ID:D009389,,,, +BMGC_DS20574,BMG_DS078668,,,,,,,,,Nerve Degeneration,MeSH ID:D009410,,,, +BMGC_DS20575,BMG_DS078669,,,,,,,,,Nervous System Malformations,MeSH ID:D009421,,,, +BMGC_DS20576,BMG_DS078670,,,,,,,,,Nervous System Diseases,MeSH ID:D009422,,,, +BMGC_DS20577,BMG_DS078672,,,,,,,,,Neurilemmoma,MeSH ID:D009442,,,, +BMGC_DS20578,BMG_DS078673,,,,,,,,,"Neuritis, Autoimmune, Experimental",MeSH ID:D009444,,,, +BMGC_DS20579,BMG_DS078674,,,,,,,,,Neuroblastoma,MeSH ID:D009447,,,, +BMGC_DS20580,BMG_DS078675,,,,,,,,,Neurofibroma,MeSH ID:D009455,,,, +BMGC_DS20581,BMG_DS078676,,,,,,,,,Neurofibromatosis 1,MeSH ID:D009456,,,, +BMGC_DS20582,BMG_DS078677,,,,,,,,,Neurologic Manifestations,MeSH ID:D009461,,,, +BMGC_DS20583,BMG_DS078680,,,,,,,,,Nevus,MeSH ID:D009506,,,, +BMGC_DS20584,BMG_DS078682,,,,,,,,,"Nevus, Pigmented",MeSH ID:D009508,,,, +BMGC_DS20585,BMG_DS078684,,,,,,,,,"Nose Deformities, Acquired",MeSH ID:D009667,,,, +BMGC_DS20586,BMG_DS078685,,,,,,,,,Nose Neoplasms,MeSH ID:D009669,,,, +BMGC_DS20587,BMG_DS078686,,,,,,,,,"Obesity, Morbid",MeSH ID:D009767,,,, +BMGC_DS20588,BMG_DS078689,,,,,,,,,Oligodendroglioma,MeSH ID:D009837,,,, +BMGC_DS20589,BMG_DS078690,,,,,,,,,Oligomenorrhea,MeSH ID:D009839,,,, +BMGC_DS20590,BMG_DS078696,,,,,,,,,Oropharyngeal Neoplasms,MeSH ID:D009959,,,, +BMGC_DS20591,BMG_DS078697,,,,,,,,,"Ossification, Heterotopic",MeSH ID:D009999,,,, +BMGC_DS20592,BMG_DS078698,,,,,,,,,Osteolysis,MeSH ID:D010014,,,, +BMGC_DS20593,BMG_DS078705,,,,,,,,,Ovarian Neoplasms,MeSH ID:D010051,,,, +BMGC_DS20594,BMG_DS078707,,,,,,,cutaneous Paget disease,MONDO:0002655,"Paget Disease, Extramammary",MeSH ID:D010145,cutaneous Paget's disease,DOID:3450,, +BMGC_DS20595,BMG_DS078708,,,,,,,,,Pain,MeSH ID:D010146,,,, +BMGC_DS20596,BMG_DS078709,,,,,,,,,"Pain, Intractable",MeSH ID:D010148,,,, +BMGC_DS20597,BMG_DS078713,,,,,,,,,Exocrine Pancreatic Insufficiency,MeSH ID:D010188,,,, +BMGC_DS20598,BMG_DS078714,,,,,,,,,Pancreatic Neoplasms,MeSH ID:D010190,,,, +BMGC_DS20599,BMG_DS078715,,,,,,,,,Papilloma,MeSH ID:D010212,,,, +BMGC_DS20600,BMG_DS078716,,,,,,,,,Paraganglioma,MeSH ID:D010235,,,, +BMGC_DS20601,BMG_DS078717,,,,,,,,,"Paraganglioma, Extra-Adrenal",MeSH ID:D010236,,,, +BMGC_DS20602,BMG_DS078718,,,,,,,,,Paralysis,MeSH ID:D010243,,,, +BMGC_DS20603,BMG_DS078720,,,,,,,,,Paranasal Sinus Diseases,MeSH ID:D010254,,,, +BMGC_DS20604,BMG_DS078722,,,,,,,,,Paraneoplastic Syndromes,MeSH ID:D010257,,,, +BMGC_DS20605,BMG_DS078723,,,,,,,,,Parathyroid Neoplasms,MeSH ID:D010282,,,, +BMGC_DS20606,BMG_DS078728,,,,,,,,,"Pemphigoid, Bullous",MeSH ID:D010391,,,, +BMGC_DS20607,BMG_DS078729,,,,,,,,,Penile Neoplasms,MeSH ID:D010412,,,, +BMGC_DS20608,BMG_DS078730,,,,,,,active peptic ulcer disease,MONDO:0004242,Peptic Ulcer Hemorrhage,MeSH ID:D010438,,,, +BMGC_DS20609,BMG_DS078731,,,,,,,,,Perceptual Disorders,MeSH ID:D010468,,,, +BMGC_DS20610,BMG_DS078735,,,,,,,,,Peritoneal Neoplasms,MeSH ID:D010534,,,, +BMGC_DS20611,BMG_DS078736,,,,,,,,,Pharyngeal Neoplasms,MeSH ID:D010610,,,, +BMGC_DS20612,BMG_DS078737,,,,,,,,,Phencyclidine Abuse,MeSH ID:D010623,,,, +BMGC_DS20613,BMG_DS078738,,,,,,,,,Pheochromocytoma,MeSH ID:D010673,pheochromocytoma,DOID:0050771,, +BMGC_DS20614,BMG_DS078739,,,,,,,,,Philadelphia Chromosome,MeSH ID:D010677,,,, +BMGC_DS20615,BMG_DS078741,,,,,,,,,Pica,MeSH ID:D010842,,,, +BMGC_DS20616,BMG_DS078742,,,,,,,,,Pierre Robin Syndrome,MeSH ID:D010855,,,, +BMGC_DS20617,BMG_DS078743,,,,,,,,,Pilonidal Sinus,MeSH ID:D010864,,,, +BMGC_DS20618,BMG_DS078745,,,,,,,,,Pituitary Neoplasms,MeSH ID:D010911,,,, +BMGC_DS20619,BMG_DS078746,,,,,,,,,Placenta Accreta,MeSH ID:D010921,,,, +BMGC_DS20620,BMG_DS078747,,,,,,,,,Placenta Diseases,MeSH ID:D010922,,,, +BMGC_DS20621,BMG_DS078749,,,,,,,,,Plant Poisoning,MeSH ID:D010939,,,, +BMGC_DS20622,BMG_DS078750,,,,,,,,,Plasmacytoma,MeSH ID:D010954,,,, +BMGC_DS20623,BMG_DS078752,,,,,,,,,Pleural Effusion,MeSH ID:D010996,,,, +BMGC_DS20624,BMG_DS078753,,,,,,,,,Pleural Neoplasms,MeSH ID:D010997,,,, +BMGC_DS20625,BMG_DS078754,,,,,,,,,"Pneumonia, Pneumococcal",MeSH ID:D011018,,,, +BMGC_DS20626,BMG_DS078755,,,,,,,,,"Pneumonia, Pneumocystis",MeSH ID:D011020,,,, +BMGC_DS20627,BMG_DS078756,,,,,,,,,Rothmund-Thomson Syndrome,MeSH ID:D011038,,,, +BMGC_DS20628,BMG_DS078757,,,,,,,poisoning,MONDO:0029000,Poisoning,MeSH ID:D011041,,,, +BMGC_DS20629,BMG_DS078758,,,,,,,,,Polycythemia Vera,MeSH ID:D011087,,,, +BMGC_DS20630,BMG_DS078759,,,,,,,,,Polyploidy,MeSH ID:D011123,,,, +BMGC_DS20631,BMG_DS078760,,,,,,,,,Polyps,MeSH ID:D011127,,,, +BMGC_DS20632,BMG_DS078761,,,,,,,,,Polyuria,MeSH ID:D011141,,,, +BMGC_DS20633,BMG_DS078765,,,,,,,,,Postoperative Complications,MeSH ID:D011183,,,, +BMGC_DS20634,BMG_DS078766,,,,,,,,,Pre-Eclampsia,MeSH ID:D011225,,,, +BMGC_DS20635,BMG_DS078767,,,,,,,,,Precancerous Conditions,MeSH ID:D011230,,,, +BMGC_DS20636,BMG_DS078768,,,,,,,,,Prediabetic State,MeSH ID:D011236,,,, +BMGC_DS20637,BMG_DS078769,,,,,,,,,Pregnancy Complications,MeSH ID:D011248,,,, +BMGC_DS20638,BMG_DS078772,,,,,,,,,"Pregnancy, Ectopic",MeSH ID:D011271,,,, +BMGC_DS20639,BMG_DS078773,,,,,,,,,"Pregnancy, Prolonged",MeSH ID:D011273,,,, +BMGC_DS20640,BMG_DS078776,,,,,,,,,Prenatal Exposure Delayed Effects,MeSH ID:D011297,,,, +BMGC_DS20641,BMG_DS078780,,,,,,,,,Prostatic Neoplasms,MeSH ID:D011471,,,, +BMGC_DS20642,BMG_DS078781,,,,,,,,,Proteinuria,MeSH ID:D011507,,,, +BMGC_DS20643,BMG_DS078782,,,,,,,,,Pruritus,MeSH ID:D011537,,,, +BMGC_DS20644,BMG_DS078787,,,,,,,,,Psychomotor Agitation,MeSH ID:D011595,,,, +BMGC_DS20645,BMG_DS078788,,,,,,,,,Psychomotor Disorders,MeSH ID:D011596,,,, +BMGC_DS20646,BMG_DS078789,,,,,,,,,Psychophysiologic Disorders,MeSH ID:D011602,,,, +BMGC_DS20647,BMG_DS078791,,,,,,,,,"Psychoses, Substance-Induced",MeSH ID:D011605,,,, +BMGC_DS20648,BMG_DS078792,,,,,,,,,Pterygium,MeSH ID:D011625,,,, +BMGC_DS20649,BMG_DS078793,,,,,,,,,"Puberty, Delayed",MeSH ID:D011628,,,, +BMGC_DS20650,BMG_DS078794,,,,,,,,,Pulmonary Edema,MeSH ID:D011654,,,, +BMGC_DS20651,BMG_DS078795,,,,,,,,,Pulmonary Heart Disease,MeSH ID:D011660,,,, +BMGC_DS20652,BMG_DS078798,,,,,,,,,Pulmonary Veno-Occlusive Disease,MeSH ID:D011668,,,, +BMGC_DS20653,BMG_DS078802,,,,,,,,,"Radiation Injuries, Experimental",MeSH ID:D011833,,,, +BMGC_DS20654,BMG_DS078806,,,,,,,,,Hyperacusis,MeSH ID:D012001,,,, +BMGC_DS20655,BMG_DS078807,,,,,,,,,Rectal Fistula,MeSH ID:D012003,anal fistula,DOID:0060328,, +BMGC_DS20656,BMG_DS078808,,,,,,,,,Rectal Neoplasms,MeSH ID:D012004,,,, +BMGC_DS20657,BMG_DS078810,,,,,,,,,Recurrence,MeSH ID:D012008,,,, +BMGC_DS20658,BMG_DS078811,,,,,,,,,"Reflex, Abnormal",MeSH ID:D012021,,,, +BMGC_DS20659,BMG_DS078813,,,,,,,,,Respiratory Hypersensitivity,MeSH ID:D012130,,,, +BMGC_DS20660,BMG_DS078814,,,,,,,,,Respiratory Paralysis,MeSH ID:D012133,,,, +BMGC_DS20661,BMG_DS078815,,,,,,,,,Respiratory Sounds,MeSH ID:D012135,,,, +BMGC_DS20662,BMG_DS078817,,,,,,,,,Retinal Degeneration,MeSH ID:D012162,,,, +BMGC_DS20663,BMG_DS078818,,,,,,,,,Retinal Hemorrhage,MeSH ID:D012166,,,, +BMGC_DS20664,BMG_DS078819,,,,,,,,,Retinoblastoma,MeSH ID:D012175,,,, +BMGC_DS20665,BMG_DS078820,,,,,,,,,Retrograde Degeneration,MeSH ID:D012183,,,, +BMGC_DS20666,BMG_DS078821,,,,,,,,,Retroperitoneal Fibrosis,MeSH ID:D012185,,,, +BMGC_DS20667,BMG_DS078822,,,,,,,,,Retroperitoneal Neoplasms,MeSH ID:D012186,,,, +BMGC_DS20668,BMG_DS078824,,,,,,,obsolete rhabdomyolysis,MONDO:0005290,Rhabdomyolysis,MeSH ID:D012206,,,, +BMGC_DS20669,BMG_DS078825,,,,,,,,,Rhabdomyoma,MeSH ID:D012207,,,, +BMGC_DS20670,BMG_DS078826,,,,,,,,,Rhabdomyosarcoma,MeSH ID:D012208,,,, +BMGC_DS20671,BMG_DS078832,,,,,,,,,Rupture,MeSH ID:D012421,,,, +BMGC_DS20672,BMG_DS078833,,,,,,,,,"Rupture, Spontaneous",MeSH ID:D012422,,,, +BMGC_DS20673,BMG_DS078836,,,,,,,,,Salivary Gland Neoplasms,MeSH ID:D012468,,,, +BMGC_DS20674,BMG_DS078837,,,,,,,,,Salmonella Food Poisoning,MeSH ID:D012478,,,, +BMGC_DS20675,BMG_DS078838,,,,,,,,,Salmonella Infections,MeSH ID:D012480,,,, +BMGC_DS20676,BMG_DS078839,,,,,,,,,Sarcoma,MeSH ID:D012509,,,, +BMGC_DS20677,BMG_DS078842,,,,,,,,,"Sarcoma, Ewing",MeSH ID:D012512,,,, +BMGC_DS20678,BMG_DS078843,,,,,,,,,"Sarcoma, Experimental",MeSH ID:D012513,,,, +BMGC_DS20679,BMG_DS078844,,,,,,,,,"Sarcoma, Kaposi",MeSH ID:D012514,,,, +BMGC_DS20680,BMG_DS078846,,,,,,,,,Osteosarcoma,MeSH ID:D012516,,,, +BMGC_DS20681,BMG_DS078850,,,,,,,,,Sclerosis,MeSH ID:D012598,,,, +BMGC_DS20682,BMG_DS078851,,,,,,,,,Scoliosis,MeSH ID:D012600,,,, +BMGC_DS20683,BMG_DS078852,,,,,,,,,Scotoma,MeSH ID:D012607,,,, +BMGC_DS20684,BMG_DS078853,,,,,,,,,Sebaceous Gland Neoplasms,MeSH ID:D012626,,,, +BMGC_DS20685,BMG_DS078855,,,,,,,,,Self Mutilation,MeSH ID:D012652,,,, +BMGC_DS20686,BMG_DS078858,,,,,,,,,"Sexual Dysfunction, Physiological",MeSH ID:D012735,,,, +BMGC_DS20687,BMG_DS078859,,,,,,,,,Sezary Syndrome,MeSH ID:D012751,,,, +BMGC_DS20688,BMG_DS078860,,,,,,,,,Shock,MeSH ID:D012769,,,, +BMGC_DS20689,BMG_DS078861,,,,,,,,,"Shock, Cardiogenic",MeSH ID:D012770,,,, +BMGC_DS20690,BMG_DS078862,,,,,,,,,"Shock, Hemorrhagic",MeSH ID:D012771,,,, +BMGC_DS20691,BMG_DS078864,,,,,,,,,"Shock, Traumatic",MeSH ID:D012774,,,, +BMGC_DS20692,BMG_DS078866,,,,,,,,,Sigmoid Neoplasms,MeSH ID:D012811,,,, +BMGC_DS20693,BMG_DS078867,,,,,,,,,Signs and Symptoms,MeSH ID:D012816,,,, +BMGC_DS20694,BMG_DS078868,,,,,,,,,"Signs and Symptoms, Digestive",MeSH ID:D012817,,,, +BMGC_DS20695,BMG_DS078869,,,,,,,,,"Signs and Symptoms, Respiratory",MeSH ID:D012818,,,, +BMGC_DS20696,BMG_DS078870,,,,,,,,,Situs Inversus,MeSH ID:D012857,,,, +BMGC_DS20697,BMG_DS078871,,,,,,,,,Skin Abnormalities,MeSH ID:D012868,,,, +BMGC_DS20698,BMG_DS078872,,,,,,,,,Skin Diseases,MeSH ID:D012871,,,, +BMGC_DS20699,BMG_DS078873,,,,,,,,,Skin Manifestations,MeSH ID:D012877,,,, +BMGC_DS20700,BMG_DS078874,,,,,,,,,Skin Neoplasms,MeSH ID:D012878,,,, +BMGC_DS20701,BMG_DS078878,,,,,,,,,Sneezing,MeSH ID:D012912,,,, +BMGC_DS20702,BMG_DS078880,,,,,,,,,Soft Tissue Neoplasms,MeSH ID:D012983,,,, +BMGC_DS20703,BMG_DS078882,,,,,,,,,Spasm,MeSH ID:D013035,,,, +BMGC_DS20704,BMG_DS078883,,,,,,,,,"Spherocytosis, Hereditary",MeSH ID:D013103,,,, +BMGC_DS20705,BMG_DS078884,,,,,,,spinal cord injury,MONDO:0043797,Spinal Cord Injuries,MeSH ID:D013119,,,, +BMGC_DS20706,BMG_DS078886,,,,,,,,,Spinal Curvatures,MeSH ID:D013121,,,, +BMGC_DS20707,BMG_DS078890,,,,,,,,,Splenic Neoplasms,MeSH ID:D013160,,,, +BMGC_DS20708,BMG_DS078892,,,,,,,,,Splenomegaly,MeSH ID:D013163,,,, +BMGC_DS20709,BMG_DS078893,,,,,,,,,"Spondylitis, Ankylosing",MeSH ID:D013167,,,, +BMGC_DS20710,BMG_DS078895,,,,,,,,,Starvation,MeSH ID:D013217,,,, +BMGC_DS20711,BMG_DS078897,,,,,,,,,Stomach Neoplasms,MeSH ID:D013274,,,, +BMGC_DS20712,BMG_DS078898,,,,,,,,,Stomach Ulcer,MeSH ID:D013276,,,, +BMGC_DS20713,BMG_DS078900,,,,,,,,,Subcutaneous Emphysema,MeSH ID:D013352,,,, +BMGC_DS20714,BMG_DS078903,,,,,,,,,Substance Withdrawal Syndrome,MeSH ID:D013375,,,, +BMGC_DS20715,BMG_DS078904,,,,,,,obsolete sudden infant death syndrome,MONDO:0010086,Sudden Infant Death,MeSH ID:D013398,,,,OMIM ID:272120 +BMGC_DS20716,BMG_DS078905,,,,,,,,,Sunburn,MeSH ID:D013471,,,, +BMGC_DS20717,BMG_DS078907,,,,,,,,,Suppuration,MeSH ID:D013492,,,, +BMGC_DS20718,BMG_DS078909,,,,,,,,,Surgical Wound Infection,MeSH ID:D013530,,,, +BMGC_DS20719,BMG_DS078911,,,,,,,,,Sweat Gland Neoplasms,MeSH ID:D013544,,,, +BMGC_DS20720,BMG_DS078912,,,,,,,,,"Pathological Conditions, Signs and Symptoms",MeSH ID:D013568,,,, +BMGC_DS20721,BMG_DS078913,,,,,,,,,Syndactyly,MeSH ID:D013576,,,, +BMGC_DS20722,BMG_DS078916,,,,,,,,,"Sarcoma, Synovial",MeSH ID:D013584,,,, +BMGC_DS20723,BMG_DS078918,,,,,,,,,Tachycardia,MeSH ID:D013610,,,, +BMGC_DS20724,BMG_DS078919,,,,,,,,,"Tachycardia, Supraventricular",MeSH ID:D013617,,,, +BMGC_DS20725,BMG_DS078920,,,,,,,,,Telangiectasis,MeSH ID:D013684,,,, +BMGC_DS20726,BMG_DS078921,,,,,,,,,Tendon Injuries,MeSH ID:D013708,,,, +BMGC_DS20727,BMG_DS078923,,,,,,,,,Testicular Neoplasms,MeSH ID:D013736,,,, +BMGC_DS20728,BMG_DS078924,,,,,,,,,Tetralogy of Fallot,MeSH ID:D013771,,,, +BMGC_DS20729,BMG_DS078928,,,,,,,,,Thoracic Neoplasms,MeSH ID:D013899,,,, +BMGC_DS20730,BMG_DS078929,,,,,,,,,Thromboembolism,MeSH ID:D013923,,,, +BMGC_DS20731,BMG_DS078930,,,,,,,,,Thrombosis,MeSH ID:D013927,thrombosis,DOID:0060903,, +BMGC_DS20732,BMG_DS078931,,,,,,,,,Thymoma,MeSH ID:D013945,,,, +BMGC_DS20733,BMG_DS078932,,,,,,,,,Thymus Neoplasms,MeSH ID:D013953,,,, +BMGC_DS20734,BMG_DS078934,,,,,,,,,Thyroid Neoplasms,MeSH ID:D013964,,,, +BMGC_DS20735,BMG_DS078935,,,,,,,,,"Thyroiditis, Autoimmune",MeSH ID:D013967,,,, +BMGC_DS20736,BMG_DS078937,,,,,,,tibia fracture,MONDO:0005320,Tibial Fractures,MeSH ID:D013978,,,, +BMGC_DS20737,BMG_DS078938,,,,,,,,,Tobacco Use Disorder,MeSH ID:D014029,,,, +BMGC_DS20738,BMG_DS078939,,,,,,,,,Tongue Neoplasms,MeSH ID:D014062,,,, +BMGC_DS20739,BMG_DS078943,,,,,,,,,Tooth Abnormalities,MeSH ID:D014071,,,, +BMGC_DS20740,BMG_DS078944,,,,,,,,,Tooth Abrasion,MeSH ID:D014072,,,, +BMGC_DS20741,BMG_DS078945,,,,,,,,,Tooth Discoloration,MeSH ID:D014075,,,, +BMGC_DS20742,BMG_DS078953,,,,,,,,,Toothache,MeSH ID:D014098,,,, +BMGC_DS20743,BMG_DS078955,,,,,,,,,Torticollis,MeSH ID:D014103,,,, +BMGC_DS20744,BMG_DS078956,,,,,,,,,Toxemia,MeSH ID:D014115,,,, +BMGC_DS20745,BMG_DS078958,,,,,,,,,Tracheoesophageal Fistula,MeSH ID:D014138,,,, +BMGC_DS20746,BMG_DS078959,,,,,,,,,"Translocation, Genetic",MeSH ID:D014178,,,, +BMGC_DS20747,BMG_DS078960,,,,,,,,,Transposition of Great Vessels,MeSH ID:D014188,,,, +BMGC_DS20748,BMG_DS078962,,,,,,,,,Tremor,MeSH ID:D014202,,,, +BMGC_DS20749,BMG_DS078963,,,,,,,,,,MeSH ID:D014256,trichotillomania,DOID:0050587,, +BMGC_DS20750,BMG_DS078964,,,,,,,,,Trichuriasis,MeSH ID:D014257,,,, +BMGC_DS20751,BMG_DS078966,,,,,,,,,Trisomy,MeSH ID:D014314,,,, +BMGC_DS20752,BMG_DS078968,,,,,,,,,"Truncus Arteriosus, Persistent",MeSH ID:D014339,,,, +BMGC_DS20753,BMG_DS078969,,,,,,,,,Tuberous Sclerosis,MeSH ID:D014402,,,, +BMGC_DS20754,BMG_DS078971,,,,,,,,,"Twins, Conjoined",MeSH ID:D014428,,,, +BMGC_DS20755,BMG_DS078972,,,,,,,,,Ulcer,MeSH ID:D014456,,,, +BMGC_DS20756,BMG_DS078974,,,,,,,,,Unconsciousness,MeSH ID:D014474,,,, +BMGC_DS20757,BMG_DS078975,,,,,,,,,Ureteral Diseases,MeSH ID:D014515,,,, +BMGC_DS20758,BMG_DS078976,,,,,,,,,Ureteral Neoplasms,MeSH ID:D014516,,,, +BMGC_DS20759,BMG_DS078977,,,,,,,,,Ureteral Obstruction,MeSH ID:D014517,,,, +BMGC_DS20760,BMG_DS078980,,,,,,,,,Urinary Calculi,MeSH ID:D014545,,,, +BMGC_DS20761,BMG_DS078982,,,,,,,,,Urinary Incontinence,MeSH ID:D014549,,,, +BMGC_DS20762,BMG_DS078983,,,,,,,,,Urinary Tract Infections,MeSH ID:D014552,urinary tract infection,DOID:0080784,, +BMGC_DS20763,BMG_DS078984,,,,,,,,,Urogenital Abnormalities,MeSH ID:D014564,,,, +BMGC_DS20764,BMG_DS078985,,,,,,,obsolete urogenital neoplasm,MONDO:0025370,Urogenital Neoplasms,MeSH ID:D014565,,,, +BMGC_DS20765,BMG_DS078986,,,,,,,,,Urologic Neoplasms,MeSH ID:D014571,,,, +BMGC_DS20766,BMG_DS078988,,,,,,,,,Uterine Hemorrhage,MeSH ID:D014592,,,, +BMGC_DS20767,BMG_DS078990,,,,,,,,,Uterine Neoplasms,MeSH ID:D014594,,,, +BMGC_DS20768,BMG_DS078992,,,,,,,,,Uterine Rupture,MeSH ID:D014597,,,, +BMGC_DS20769,BMG_DS078994,,,,,,,,,"Uveitis, Anterior",MeSH ID:D014606,,,, +BMGC_DS20770,BMG_DS078996,,,,,,,,,Vaginal Neoplasms,MeSH ID:D014625,,,, +BMGC_DS20771,BMG_DS078997,,,,,,,,,Varicose Veins,MeSH ID:D014648,,,, +BMGC_DS20772,BMG_DS079000,,,,,,,,,Virilism,MeSH ID:D014770,,,, +BMGC_DS20773,BMG_DS079002,,,,,,,,,Vomiting,MeSH ID:D014839,,,, +BMGC_DS20774,BMG_DS079004,,,,,,,,,Vulvar Neoplasms,MeSH ID:D014846,,,, +BMGC_DS20775,BMG_DS079005,,,,,,,,,Wallerian Degeneration,MeSH ID:D014855,,,, +BMGC_DS20776,BMG_DS079006,,,,,,,,,Water-Electrolyte Imbalance,MeSH ID:D014883,,,, +BMGC_DS20777,BMG_DS079007,,,,,,,,,Granulomatosis with Polyangiitis,MeSH ID:D014890,,,, +BMGC_DS20778,BMG_DS079010,,,,,,,injury,MONDO:0021178,Wounds and Injuries,MeSH ID:D014947,,,, +BMGC_DS20779,BMG_DS079013,,,,,,,,,"Wounds, Penetrating",MeSH ID:D014950,,,, +BMGC_DS20780,BMG_DS079017,,,,,,,,,Xeroderma Pigmentosum,MeSH ID:D014983,,,, +BMGC_DS20781,BMG_DS079024,,,,,,,,,Supratentorial Neoplasms,MeSH ID:D015173,,,, +BMGC_DS20782,BMG_DS079026,,,,,,,,,Prolactinoma,MeSH ID:D015175,,,, +BMGC_DS20783,BMG_DS079027,,,,,,,,,Colorectal Neoplasms,MeSH ID:D015179,,,, +BMGC_DS20784,BMG_DS079029,,,,,,,,,"Osteoarthritis, Hip",MeSH ID:D015207,,,, +BMGC_DS20785,BMG_DS079030,,,,,,,,,Smoke Inhalation Injury,MeSH ID:D015208,,,, +BMGC_DS20786,BMG_DS079031,,,,,,,,,"Carcinoma, Merkel Cell",MeSH ID:D015266,,,, +BMGC_DS20787,BMG_DS079032,,,,,,,,,Churg-Strauss Syndrome,MeSH ID:D015267,,,, +BMGC_DS20788,BMG_DS079033,,,,,,,,,Gastrinoma,MeSH ID:D015408,,,, +BMGC_DS20789,BMG_DS079034,,,,,,,ischemia reperfusion injury,MONDO:0005203,Reperfusion Injury,MeSH ID:D015427,,,, +BMGC_DS20790,BMG_DS079035,,,,,,,,,Myocardial Reperfusion Injury,MeSH ID:D015428,,,, +BMGC_DS20791,BMG_DS079036,,,,,,,,,Weight Gain,MeSH ID:D015430,,,, +BMGC_DS20792,BMG_DS079037,,,,,,,,,Weight Loss,MeSH ID:D015431,,,, +BMGC_DS20793,BMG_DS079040,,,,,,,,,"Leukemia, Lymphocytic, Chronic, B-Cell",MeSH ID:D015451,,,, +BMGC_DS20794,BMG_DS079041,,,,,,,,,Precursor B-Cell Lymphoblastic Leukemia-Lymphoma,MeSH ID:D015452,,,, +BMGC_DS20795,BMG_DS079043,,,,,,,,,"Leukemia, T-Cell",MeSH ID:D015458,,,, +BMGC_DS20796,BMG_DS079044,,,,,,,,,"Leukemia-Lymphoma, Adult T-Cell",MeSH ID:D015459,,,, +BMGC_DS20797,BMG_DS079045,,,,,,,,,"Leukemia, Prolymphocytic, T-Cell",MeSH ID:D015461,,,, +BMGC_DS20798,BMG_DS079047,,,,,,,,,"Leukemia, Myelogenous, Chronic, BCR-ABL Positive",MeSH ID:D015464,,,, +BMGC_DS20799,BMG_DS079048,,,,,,,,,"Leukemia, Myeloid, Accelerated Phase",MeSH ID:D015465,,,, +BMGC_DS20800,BMG_DS079051,,,,,,,,,"Leukemia, Myeloid, Acute",MeSH ID:D015470,,,, +BMGC_DS20801,BMG_DS079054,,,,,,,,,"Leukemia, Promyelocytic, Acute",MeSH ID:D015473,,,, +BMGC_DS20802,BMG_DS079055,,,,,,,,,"Leukemia, Myelomonocytic, Chronic",MeSH ID:D015477,,,, +BMGC_DS20803,BMG_DS079056,,,,,,,,,"Leukemia, Myelomonocytic, Acute",MeSH ID:D015479,,,, +BMGC_DS20804,BMG_DS079057,,,,,,,,,Choledochal Cyst,MeSH ID:D015529,,,, +BMGC_DS20805,BMG_DS079058,,,,,,,,,Histiocytosis,MeSH ID:D015614,,,, +BMGC_DS20806,BMG_DS079060,,,,,,,,,"Histiocytosis, Sinus",MeSH ID:D015618,,,, +BMGC_DS20807,BMG_DS079061,,,,,,,,,Respiratory System Abnormalities,MeSH ID:D015619,,,, +BMGC_DS20808,BMG_DS079063,,,,,,,mycotoxicosis,MONDO:0042497,Mycotoxicosis,MeSH ID:D015651,,,, +BMGC_DS20809,BMG_DS079064,,,,,,,"mammary neoplasms, animal",MONDO:0025483,"Mammary Neoplasms, Animal",MeSH ID:D015674,,,, +BMGC_DS20810,BMG_DS079067,,,,,,,,,"Granuloma, Foreign-Body",MeSH ID:D015745,,,, +BMGC_DS20811,BMG_DS079068,,,,,,,,,Abdominal Pain,MeSH ID:D015746,,,, +BMGC_DS20812,BMG_DS079070,,,,,,,,,Aniridia,MeSH ID:D015783,,,, +BMGC_DS20813,BMG_DS079071,,,,,,,,,Retinal Dysplasia,MeSH ID:D015792,,,, +BMGC_DS20814,BMG_DS079074,,,,,,,,,"Substance Abuse, Intravenous",MeSH ID:D015819,,,, +BMGC_DS20815,BMG_DS079076,,,,,,,,,Osteochondroma,MeSH ID:D015831,,,, +BMGC_DS20816,BMG_DS079079,,,,,,,,,Anisocoria,MeSH ID:D015875,,,, +BMGC_DS20817,BMG_DS079080,,,,,,,,,Miosis,MeSH ID:D015877,,,, +BMGC_DS20818,BMG_DS079081,,,,,,,,,Mydriasis,MeSH ID:D015878,,,, +BMGC_DS20819,BMG_DS079082,,,,,,,,,Urinary Retention,MeSH ID:D016055,,,, +BMGC_DS20820,BMG_DS079083,,,,,,,,,"Blood Loss, Surgical",MeSH ID:D016063,,,, +BMGC_DS20821,BMG_DS079085,,,,,,,,,Oligohydramnios,MeSH ID:D016104,,,, +BMGC_DS20822,BMG_DS079086,,,,,,,,,"Albinism, Oculocutaneous",MeSH ID:D016115,oculocutaneous albinism,DOID:0050632,, +BMGC_DS20823,BMG_DS079087,,,,,,,,,"Albinism, Ocular",MeSH ID:D016117,ocular albinism 1,DOID:0050633,, +BMGC_DS20824,BMG_DS079088,,,,,,,,,Spinal Dysraphism,MeSH ID:D016135,,,, +BMGC_DS20825,BMG_DS079089,,,,,,,,,Spina Bifida Occulta,MeSH ID:D016136,spina bifida occulta,DOID:0080073,, +BMGC_DS20826,BMG_DS079090,,,,,,,,,Spina Bifida Cystica,MeSH ID:D016137,,,, +BMGC_DS20827,BMG_DS079091,,,,,,,,,Holoprosencephaly,MeSH ID:D016142,,,, +BMGC_DS20828,BMG_DS079092,,,,,,,,,Oral Fistula,MeSH ID:D016155,,,, +BMGC_DS20829,BMG_DS079093,,,,,,,,,Respiratory Tract Fistula,MeSH ID:D016156,,,, +BMGC_DS20830,BMG_DS079097,,,,,,,,,Tooth Loss,MeSH ID:D016388,,,, +BMGC_DS20831,BMG_DS079098,,,,,,,,,"Lymphoma, B-Cell",MeSH ID:D016393,,,, +BMGC_DS20832,BMG_DS079099,,,,,,,,,"Lymphoma, T-Cell",MeSH ID:D016399,,,, +BMGC_DS20833,BMG_DS079101,,,,,,,,,"Lymphoma, Large B-Cell, Diffuse",MeSH ID:D016403,diffuse large B-cell lymphoma,DOID:0050745,, +BMGC_DS20834,BMG_DS079102,,,,,,,primary cutaneous T-cell non-Hodgkin lymphoma,MONDO:0000607,"Lymphoma, T-Cell, Cutaneous",MeSH ID:D016410,primary cutaneous T-cell non-Hodgkin lymphoma,DOID:0060061,, +BMGC_DS20835,BMG_DS079103,,,,,,,,,"Lymphoma, T-Cell, Peripheral",MeSH ID:D016411,,,, +BMGC_DS20836,BMG_DS079105,,,,,,,,,Bacteremia,MeSH ID:D016470,,,, +BMGC_DS20837,BMG_DS079106,,,,,,,,,"Lymphoma, AIDS-Related",MeSH ID:D016483,,,, +BMGC_DS20838,BMG_DS079108,,,,,,,,,"Pemphigus, Benign Familial",MeSH ID:D016506,,,, +BMGC_DS20839,BMG_DS079110,,,,,,,,,Neurofibromatosis 2,MeSH ID:D016518,,,, +BMGC_DS20840,BMG_DS079111,,,,,,,,,"Cardiac Output, High",MeSH ID:D016534,,,, +BMGC_DS20841,BMG_DS079112,,,,,,,,,Central Nervous System Neoplasms,MeSH ID:D016543,,,, +BMGC_DS20842,BMG_DS079114,,,,,,,,,"Purpura, Thrombocytopenic, Idiopathic",MeSH ID:D016553,,,, +BMGC_DS20843,BMG_DS079116,,,,,,,,,,MeSH ID:D016574,seasonal affective disorder,DOID:0060167,, +BMGC_DS20844,BMG_DS079122,,,,,,,,,"Neoplasms, Second Primary",MeSH ID:D016609,,,, +BMGC_DS20845,BMG_DS079125,,,,,,,,,"Plasma Cell Granuloma, Pulmonary",MeSH ID:D016726,,,, +BMGC_DS20846,BMG_DS079126,,,,,,,,,"Death, Sudden, Cardiac",MeSH ID:D016757,,,, +BMGC_DS20847,BMG_DS079129,,,,,,,,,,MeSH ID:D016849,herpes simplex virus keratitis,DOID:0080158,, +BMGC_DS20848,BMG_DS079130,,,,,,,,,Hypocapnia,MeSH ID:D016857,,,, +BMGC_DS20849,BMG_DS079131,,,,,,,,,Endometrial Neoplasms,MeSH ID:D016889,,,, +BMGC_DS20850,BMG_DS079133,,,,,,,,,IgA Deficiency,MeSH ID:D017098,,,, +BMGC_DS20851,BMG_DS079137,,,,,,,,,"Ophthalmoplegia, Chronic Progressive External",MeSH ID:D017246,,,, +BMGC_DS20852,BMG_DS079138,,,,,,,,,Neurofibromatoses,MeSH ID:D017253,,,, +BMGC_DS20853,BMG_DS079139,,,,,,,,,Leukemic Infiltration,MeSH ID:D017254,,,, +BMGC_DS20854,BMG_DS079142,,,,,,,,,Acneiform Eruptions,MeSH ID:D017486,,,, +BMGC_DS20855,BMG_DS079143,,,,,,,,,"Keratosis, Seborrheic",MeSH ID:D017492,,,, +BMGC_DS20856,BMG_DS079144,,,,,,,,,Hyperpigmentation,MeSH ID:D017495,,,, +BMGC_DS20857,BMG_DS079145,,,,,,,,,Hypopigmentation,MeSH ID:D017496,,,, +BMGC_DS20858,BMG_DS079147,,,,,,,,,Iliac Aneurysm,MeSH ID:D017543,,,, +BMGC_DS20859,BMG_DS079148,,,,,,,,,"Aortic Aneurysm, Abdominal",MeSH ID:D017544,,,, +BMGC_DS20860,BMG_DS079149,,,,,,,,,"Aortic Aneurysm, Thoracic",MeSH ID:D017545,,,, +BMGC_DS20861,BMG_DS079153,,,,,,,,,Neuroectodermal Tumors,MeSH ID:D017599,,,, +BMGC_DS20862,BMG_DS079155,,,,,,,,,Polydactyly,MeSH ID:D017689,,,, +BMGC_DS20863,BMG_DS079158,,,,,,,,,"Lymphoma, Large-Cell, Anaplastic",MeSH ID:D017728,,,, +BMGC_DS20864,BMG_DS079159,,,,,,,,,Lymphomatoid Papulosis,MeSH ID:D017731,,,, +BMGC_DS20865,BMG_DS079164,,,,,,,,,"Limb Deformities, Congenital",MeSH ID:D017880,,,, +BMGC_DS20866,BMG_DS079168,,,,,,,,,Glucose Intolerance,MeSH ID:D018149,,,, +BMGC_DS20867,BMG_DS079171,,,,,,,,,Lymphangioleiomyomatosis,MeSH ID:D018192,,,, +BMGC_DS20868,BMG_DS079176,,,,,,,,,Hepatoblastoma,MeSH ID:D018197,,,, +BMGC_DS20869,BMG_DS079179,,,,,,,,,"Mixed Tumor, Mullerian",MeSH ID:D018200,,,, +BMGC_DS20870,BMG_DS079187,,,,,,,,,"Liposarcoma, Myxoid",MeSH ID:D018208,,,, +BMGC_DS20871,BMG_DS079190,,,,,,,,,"Chondrosarcoma, Mesenchymal",MeSH ID:D018211,,,, +BMGC_DS20872,BMG_DS079191,,,,,,,,,Giant Cell Tumor of Bone,MeSH ID:D018212,,,, +BMGC_DS20873,BMG_DS079192,,,,,,,,,"Neoplasms, Bone Tissue",MeSH ID:D018213,,,, +BMGC_DS20874,BMG_DS079197,,,,,,,,,"Neoplasms, Fibrous Tissue",MeSH ID:D018218,,,, +BMGC_DS20875,BMG_DS079198,,,,,,,,,"Histiocytoma, Benign Fibrous",MeSH ID:D018219,,,, +BMGC_DS20876,BMG_DS079200,,,,,,,,,"Fibromatosis, Abdominal",MeSH ID:D018221,,,, +BMGC_DS20877,BMG_DS079201,,,,,,,,,Desmoid Tumors,MeSH ID:D018222,,,, +BMGC_DS20878,BMG_DS079205,,,,,,,,,Fibroadenoma,MeSH ID:D018226,,,, +BMGC_DS20879,BMG_DS079206,,,,,,,,,"Sarcoma, Clear Cell",MeSH ID:D018227,,,, +BMGC_DS20880,BMG_DS079209,,,,,,,,,"Leiomyoma, Epithelioid",MeSH ID:D018230,,,, +BMGC_DS20881,BMG_DS079211,,,,,,,,,"Rhabdomyosarcoma, Alveolar",MeSH ID:D018232,,,, +BMGC_DS20882,BMG_DS079212,,,,,,,,,"Rhabdomyosarcoma, Embryonal",MeSH ID:D018233,,,, +BMGC_DS20883,BMG_DS079213,,,,,,,,,"Sarcoma, Alveolar Soft Part",MeSH ID:D018234,,,, +BMGC_DS20884,BMG_DS079214,,,,,,,,,Smooth Muscle Tumor,MeSH ID:D018235,,,, +BMGC_DS20885,BMG_DS079215,,,,,,,,,"Carcinoma, Embryonal",MeSH ID:D018236,,,, +BMGC_DS20886,BMG_DS079218,,,,,,,,,Seminoma,MeSH ID:D018239,,,, +BMGC_DS20887,BMG_DS079219,,,,,,,,,Endodermal Sinus Tumor,MeSH ID:D018240,,,, +BMGC_DS20888,BMG_DS079220,,,,,,,,,"Neuroectodermal Tumors, Primitive, Peripheral",MeSH ID:D018241,,,, +BMGC_DS20889,BMG_DS079221,,,,,,,,,"Neuroectodermal Tumors, Primitive",MeSH ID:D018242,,,, +BMGC_DS20890,BMG_DS079222,,,,,,,,,Teratocarcinoma,MeSH ID:D018243,,,, +BMGC_DS20891,BMG_DS079224,,,,,,,,,Adrenocortical Adenoma,MeSH ID:D018246,,,, +BMGC_DS20892,BMG_DS079225,,,,,,,,,"Adenoma, Liver Cell",MeSH ID:D018248,,,, +BMGC_DS20893,BMG_DS079226,,,,,,,,,"Adenoma, Oxyphilic",MeSH ID:D018249,,,, +BMGC_DS20894,BMG_DS079233,,,,,,,,,Adenomatous Polyps,MeSH ID:D018256,,,, +BMGC_DS20895,BMG_DS079235,,,,,,,,,"Adenocarcinoma, Clear Cell",MeSH ID:D018262,,,, +BMGC_DS20896,BMG_DS079236,,,,,,,,,"Adenocarcinoma, Follicular",MeSH ID:D018263,,,, +BMGC_DS20897,BMG_DS079240,,,,,,,,,Adrenocortical Carcinoma,MeSH ID:D018268,,,, +BMGC_DS20898,BMG_DS079241,,,,,,,,,"Carcinoma, Endometrioid",MeSH ID:D018269,,,, +BMGC_DS20899,BMG_DS079242,,,,,,,,,"Carcinoma, Ductal, Breast",MeSH ID:D018270,,,, +BMGC_DS20900,BMG_DS079244,,,,,,,,,"Carcinoma, Lobular",MeSH ID:D018275,,,, +BMGC_DS20901,BMG_DS079245,,,,,,,,,"Carcinoma, Medullary",MeSH ID:D018276,,,, +BMGC_DS20902,BMG_DS079246,,,,,,,,,"Carcinoma, Mucoepidermoid",MeSH ID:D018277,,,, +BMGC_DS20903,BMG_DS079250,,,,,,,,,Cholangiocarcinoma,MeSH ID:D018281,,,, +BMGC_DS20904,BMG_DS079256,,,,,,,,,"Carcinoma, Large Cell",MeSH ID:D018287,,,, +BMGC_DS20905,BMG_DS079257,,,,,,,,,"Carcinoma, Small Cell",MeSH ID:D018288,,,, +BMGC_DS20906,BMG_DS079264,,,,,,,,,Pilomatrixoma,MeSH ID:D018296,,,, +BMGC_DS20907,BMG_DS079269,,,,,,,,,"Neoplasms, Mesothelial",MeSH ID:D018301,,,, +BMGC_DS20908,BMG_DS079275,,,,,,,,,"Neoplasms, Squamous Cell",MeSH ID:D018307,,,, +BMGC_DS20909,BMG_DS079282,,,,,,,,,Gliosarcoma,MeSH ID:D018316,,,, +BMGC_DS20910,BMG_DS079283,,,,,,,,,Nerve Sheath Neoplasms,MeSH ID:D018317,,,, +BMGC_DS20911,BMG_DS079284,,,,,,,,,"Neurofibroma, Plexiform",MeSH ID:D018318,,,, +BMGC_DS20912,BMG_DS079285,,,,,,,,,Neurofibrosarcoma,MeSH ID:D018319,,,, +BMGC_DS20913,BMG_DS079288,,,,,,,,,"Hemangioendothelioma, Epithelioid",MeSH ID:D018323,,,, +BMGC_DS20914,BMG_DS079290,,,,,,,,,Hemangioblastoma,MeSH ID:D018325,,,, +BMGC_DS20915,BMG_DS079291,,,,,,,,,Nevi and Melanomas,MeSH ID:D018326,,,, +BMGC_DS20916,BMG_DS079293,,,,,,,,,"Melanoma, Amelanotic",MeSH ID:D018328,,,, +BMGC_DS20917,BMG_DS079297,,,,,,,,,"Nevus, Epithelioid and Spindle Cell",MeSH ID:D018332,,,, +BMGC_DS20918,BMG_DS079299,,,,,,,,,Rhabdoid Tumor,MeSH ID:D018335,,,, +BMGC_DS20919,BMG_DS079300,,,,,,,,,Neuroendocrine Tumors,MeSH ID:D018358,,,, +BMGC_DS20920,BMG_DS079301,,,,,,,,,"Neoplasm, Residual",MeSH ID:D018365,,,, +BMGC_DS20921,BMG_DS079302,,,,,,,,,Cardiovascular Abnormalities,MeSH ID:D018376,,,, +BMGC_DS20922,BMG_DS079305,,,,,,,,,"Lymphoma, B-Cell, Marginal Zone",MeSH ID:D018442,marginal zone lymphoma,DOID:0050748,, +BMGC_DS20923,BMG_DS079306,,,,,,,,,Disease Progression,MeSH ID:D018450,,,, +BMGC_DS20924,BMG_DS079308,,,,,,,,,Hypokinesia,MeSH ID:D018476,,,, +BMGC_DS20925,BMG_DS079309,,,,,,,,,"Ventricular Dysfunction, Left",MeSH ID:D018487,,,, +BMGC_DS20926,BMG_DS079310,,,,,,,,,Hyperoxia,MeSH ID:D018496,,,, +BMGC_DS20927,BMG_DS079311,,,,,,,,,"Ventricular Dysfunction, Right",MeSH ID:D018497,,,, +BMGC_DS20928,BMG_DS079312,,,,,,,,,"Breast Neoplasms, Male",MeSH ID:D018567,,,, +BMGC_DS20929,BMG_DS079315,,,,,,,,,"Vitreoretinopathy, Proliferative",MeSH ID:D018630,,,, +BMGC_DS20930,BMG_DS079317,,,,,,,,,Stomatognathic System Abnormalities,MeSH ID:D018640,,,, +BMGC_DS20931,BMG_DS079318,,,,,,,,,Tooth Injuries,MeSH ID:D018677,,,, +BMGC_DS20932,BMG_DS079319,,,,,,,,,Ventricular Dysfunction,MeSH ID:D018754,,,, +BMGC_DS20933,BMG_DS079320,,,,,,,,,Multiple Endocrine Neoplasia Type 1,MeSH ID:D018761,,,, +BMGC_DS20934,BMG_DS079321,,,,,,,,,Tricuspid Atresia,MeSH ID:D018785,tricuspid atresia,DOID:0080169,, +BMGC_DS20935,BMG_DS079322,,,,,,,,,"Anemia, Iron-Deficiency",MeSH ID:D018798,,,, +BMGC_DS20936,BMG_DS079323,,,,,,,,,Multiple Endocrine Neoplasia Type 2a,MeSH ID:D018813,,,, +BMGC_DS20937,BMG_DS079324,,,,,,,,,Multiple Endocrine Neoplasia Type 2b,MeSH ID:D018814,,,, +BMGC_DS20938,BMG_DS079325,,,,,,,,,"Carcinoma, Lewis Lung",MeSH ID:D018827,,,, +BMGC_DS20939,BMG_DS079326,,,,,,,,,Ventricular Premature Complexes,MeSH ID:D018879,,,, +BMGC_DS20940,BMG_DS079327,,,,,,,,,Heat Stress Disorders,MeSH ID:D018882,,,, +BMGC_DS20941,BMG_DS079328,,,,,,,,,Heat Stroke,MeSH ID:D018883,,,, +BMGC_DS20942,BMG_DS079331,,,,,,,,,Muscle Weakness,MeSH ID:D018908,,,, +BMGC_DS20943,BMG_DS079333,,,,,,,,,Vascular Neoplasms,MeSH ID:D019043,,,, +BMGC_DS20944,BMG_DS079334,,,,,,,,,Bone Marrow Neoplasms,MeSH ID:D019046,,,, +BMGC_DS20945,BMG_DS079335,,,,,,,,,Prostatic Intraepithelial Neoplasia,MeSH ID:D019048,,,, +BMGC_DS20946,BMG_DS079337,,,,,,,,,Facies,MeSH ID:D019066,,,, +BMGC_DS20947,BMG_DS079338,,,,,,,,,Cafe-au-Lait Spots,MeSH ID:D019080,,,, +BMGC_DS20948,BMG_DS079339,,,,,,,,,Postoperative Hemorrhage,MeSH ID:D019106,,,, +BMGC_DS20949,BMG_DS079344,,,,,,,,,Pseudolymphoma,MeSH ID:D019310,,,, +BMGC_DS20950,BMG_DS079346,,,,,,,,,Hematologic Neoplasms,MeSH ID:D019337,,,, +BMGC_DS20951,BMG_DS079347,,,,,,,,,Port-Wine Stain,MeSH ID:D019339,,,, +BMGC_DS20952,BMG_DS079348,,,,,,,,,Chromosome Breakage,MeSH ID:D019457,,,, +BMGC_DS20953,BMG_DS079349,,,,,,,,,Craniofacial Abnormalities,MeSH ID:D019465,,,, +BMGC_DS20954,BMG_DS079351,,,,,,,,,Neck Pain,MeSH ID:D019547,,,, +BMGC_DS20955,BMG_DS079355,,,,,,,,,Multiple System Atrophy,MeSH ID:D019578,,,, +BMGC_DS20956,BMG_DS079356,,,,,,,,,Hot Flashes,MeSH ID:D019584,,,, +BMGC_DS20957,BMG_DS079357,,,,,,,,,Intracranial Hypertension,MeSH ID:D019586,,,, +BMGC_DS20958,BMG_DS079358,,,,,,,,,"Aging, Premature",MeSH ID:D019588,,,, +BMGC_DS20959,BMG_DS079361,,,,,,,,,Maxillofacial Abnormalities,MeSH ID:D019767,,,, +BMGC_DS20960,BMG_DS079363,,,,,,,,,Neurobehavioral Manifestations,MeSH ID:D019954,,,, +BMGC_DS20961,BMG_DS079364,,,,,,,,,Substance-Related Disorders,MeSH ID:D019966,,,, +BMGC_DS20962,BMG_DS079365,,,,,,,,,Amphetamine-Related Disorders,MeSH ID:D019969,,,, +BMGC_DS20963,BMG_DS079366,,,,,,,,,Cocaine-Related Disorders,MeSH ID:D019970,,,, +BMGC_DS20964,BMG_DS079367,,,,,,,,,Genetic Predisposition to Disease,MeSH ID:D020022,,,, +BMGC_DS20965,BMG_DS079370,,,,,,,,,Neurogenic Inflammation,MeSH ID:D020078,,,, +BMGC_DS20966,BMG_DS079371,,,,,,,,,Acquired Hyperostosis Syndrome,MeSH ID:D020083,,,, +BMGC_DS20967,BMG_DS079373,,,,,,,,,Putaminal Hemorrhage,MeSH ID:D020146,,,, +BMGC_DS20968,BMG_DS079374,,,,,,,manganese poisoning,MONDO:0017638,Manganese Poisoning,MeSH ID:D020149,,,, +BMGC_DS20969,BMG_DS079375,,,,,,,,,Ornithine Carbamoyltransferase Deficiency Disease,MeSH ID:D020163,,,, +BMGC_DS20970,BMG_DS079378,,,,,,,nervous system injury,MONDO:0044745,"Trauma, Nervous System",MeSH ID:D020196,,,, +BMGC_DS20971,BMG_DS079380,,,,,,,,,"Intracranial Hemorrhage, Traumatic",MeSH ID:D020198,,,, +BMGC_DS20972,BMG_DS079381,,,,,,,,,"Hematoma, Subdural, Acute",MeSH ID:D020199,,,, +BMGC_DS20973,BMG_DS079382,,,,,,,,,"Hematoma, Subdural, Chronic",MeSH ID:D020200,,,, +BMGC_DS20974,BMG_DS079383,,,,,,,,,"Brain Hemorrhage, Traumatic",MeSH ID:D020201,,,, +BMGC_DS20975,BMG_DS079392,,,,,,,vascular brain injury,MONDO:0005621,Cerebrovascular Trauma,MeSH ID:D020214,,,, +BMGC_DS20976,BMG_DS079395,,,,,,,,,Optic Nerve Injuries,MeSH ID:D020221,,,, +BMGC_DS20977,BMG_DS079397,,,,,,,,,Serotonin Syndrome,MeSH ID:D020230,,,, +BMGC_DS20978,BMG_DS079399,,,,,,,,,Gait Ataxia,MeSH ID:D020234,,,, +BMGC_DS20979,BMG_DS079400,,,,,,,,,"Amnesia, Transient Global",MeSH ID:D020236,,,, +BMGC_DS20980,BMG_DS079404,,,,,,,,,Postoperative Nausea and Vomiting,MeSH ID:D020250,,,, +BMGC_DS20981,BMG_DS079405,,,,,,,,,Choroidal Neovascularization,MeSH ID:D020256,,,, +BMGC_DS20982,BMG_DS079406,,,,,,,,,Ventricular Remodeling,MeSH ID:D020257,,,, +BMGC_DS20983,BMG_DS079407,,,,,,,toxic encephalopathy,MONDO:0005527,Neurotoxicity Syndromes,MeSH ID:D020258,,,, +BMGC_DS20984,BMG_DS079408,,,,,,,,,"Heavy Metal Poisoning, Nervous System",MeSH ID:D020260,,,, +BMGC_DS20985,BMG_DS079409,,,,,,,,,"Lead Poisoning, Nervous System",MeSH ID:D020263,,,, +BMGC_DS20986,BMG_DS079410,,,,,,,,,"Papilloma, Choroid Plexus",MeSH ID:D020288,,,, +BMGC_DS20987,BMG_DS079411,,,,,,,,,Brain Stem Neoplasms,MeSH ID:D020295,,,, +BMGC_DS20988,BMG_DS079413,,,,,,,obsolete intracranial hemorrhage,MONDO:0005049,Intracranial Hemorrhages,MeSH ID:D020300,,,, +BMGC_DS20989,BMG_DS079415,,,,,,,,,Tics,MeSH ID:D020323,,,, +BMGC_DS20990,BMG_DS079417,,,,,,,,,Paraparesis,MeSH ID:D020335,,,, +BMGC_DS20991,BMG_DS079418,,,,,,,,,"Paraparesis, Spastic",MeSH ID:D020336,,,, +BMGC_DS20992,BMG_DS079420,,,,,,,,,Lithiasis,MeSH ID:D020347,,,, +BMGC_DS20993,BMG_DS079422,,,,,,,,,"Nystagmus, Congenital",MeSH ID:D020417,,,, +BMGC_DS20994,BMG_DS079423,,,,,,,,,Olfactory Nerve Diseases,MeSH ID:D020431,,,, +BMGC_DS20995,BMG_DS079425,,,,,,,,,Hypokalemic Periodic Paralysis,MeSH ID:D020514,,,, +BMGC_DS20996,BMG_DS079426,,,,,,,,,Fetal Weight,MeSH ID:D020567,,,, +BMGC_DS20997,BMG_DS079429,,,,,,,,,Amaurosis Fugax,MeSH ID:D020757,,,, +BMGC_DS20998,BMG_DS079430,,,,,,,,,"Pathological Conditions, Anatomical",MeSH ID:D020763,,,, +BMGC_DS20999,BMG_DS079432,,,,,,,,,"Hemangioma, Cavernous, Central Nervous System",MeSH ID:D020786,,,, +BMGC_DS21000,BMG_DS079435,,,,,,,,,Photophobia,MeSH ID:D020795,,,, +BMGC_DS21001,BMG_DS079438,,,,,,,,,Neuromuscular Manifestations,MeSH ID:D020879,,,, +BMGC_DS21002,BMG_DS079439,,,,,,,,,Hypovolemia,MeSH ID:D020896,,,, +BMGC_DS21003,BMG_DS079440,,,,,,,,,Korsakoff Syndrome,MeSH ID:D020915,,,, +BMGC_DS21004,BMG_DS079442,,,,,,,,,Embryo Loss,MeSH ID:D020964,,,, +BMGC_DS21005,BMG_DS079444,,,,,,,obsolete wheat allergic disease,MONDO:0007021,Wheat Hypersensitivity,MeSH ID:D021182,,,, +BMGC_DS21006,BMG_DS079445,,,,,,,obsolete peanut allergic reaction,MONDO:0005902,Peanut Hypersensitivity,MeSH ID:D021183,,,, +BMGC_DS21007,BMG_DS079446,,,,,,,,,"Carcinoma, Pancreatic Ductal",MeSH ID:D021441,,,, +BMGC_DS21008,BMG_DS079447,,,,,,,,,Flank Pain,MeSH ID:D021501,,,, +BMGC_DS21009,BMG_DS079448,,,,,,,,,"Aortic Stenosis, Supravalvular",MeSH ID:D021921,,,, +BMGC_DS21010,BMG_DS079449,,,,,,,,,Hyperammonemia,MeSH ID:D022124,,,, +BMGC_DS21011,BMG_DS079451,,,,,,,,,Chills,MeSH ID:D023341,,,, +BMGC_DS21012,BMG_DS079452,,,,,,,chlamydia infectious disease,MONDO:0021697,,MeSH ID:D023521 | MeSH ID:D002690,,,, +BMGC_DS21013,BMG_DS079453,,,,,,,,,"Gonadal Dysgenesis, 46,XX",MeSH ID:D023961,,,, +BMGC_DS21014,BMG_DS079458,,,,,,,,,"Anemia, Hypoplastic, Congenital",MeSH ID:D029502,,,, +BMGC_DS21015,BMG_DS079460,,,,,,,,,Papillomavirus Infections,MeSH ID:D030361,Human papillomavirus infectious disease,DOID:11166,, +BMGC_DS21016,BMG_DS079463,,,,,,,obsolete gestational trophoblastic disease,MONDO:0016784,Gestational Trophoblastic Disease,MeSH ID:D031901,,,, +BMGC_DS21017,BMG_DS079465,,,,,,,,,Hearing Loss,MeSH ID:D034381,,,, +BMGC_DS21018,BMG_DS079466,,,,,,,,,"Mastocytosis, Systemic",MeSH ID:D034721,,,, +BMGC_DS21019,BMG_DS079469,,,,,,,ciguatera fish poisoning,MONDO:0043230,Ciguatera Poisoning,MeSH ID:D036841,,,, +BMGC_DS21020,BMG_DS079472,,,,,,,,,"Lower Extremity Deformities, Congenital",MeSH ID:D038061,,,, +BMGC_DS21021,BMG_DS079473,,,,,,,,,"Upper Extremity Deformities, Congenital",MeSH ID:D038062,,,, +BMGC_DS21022,BMG_DS079475,,,,,,,,,X-Linked Intellectual Disability,MeSH ID:D038901,,,, +BMGC_DS21023,BMG_DS079476,,,,,,,,,Coffin-Lowry Syndrome,MeSH ID:D038921,,,, +BMGC_DS21024,BMG_DS079477,,,,,,,,,Genomic Instability,MeSH ID:D042822,,,, +BMGC_DS21025,BMG_DS079478,,,,,,,,,Gallstones,MeSH ID:D042882,,,, +BMGC_DS21026,BMG_DS079479,,,,,,,,,Chromosomal Instability,MeSH ID:D043171,,,, +BMGC_DS21027,BMG_DS079482,,,,,,,,,Lymphatic Abnormalities,MeSH ID:D044148,,,, +BMGC_DS21028,BMG_DS079483,,,,,,,,,"Carcinoma, Ductal",MeSH ID:D044584,,,, +BMGC_DS21029,BMG_DS079484,,,,,,,,,Reticulocytosis,MeSH ID:D045262,,,, +BMGC_DS21030,BMG_DS079489,,,,,,,,,"Hypertension, Pregnancy-Induced",MeSH ID:D046110,,,, +BMGC_DS21031,BMG_DS079491,,,,,,,,,Gastrointestinal Stromal Tumors,MeSH ID:D046152,,,, +BMGC_DS21032,BMG_DS079492,,,,,,,,,"Hernia, Abdominal",MeSH ID:D046449,,,, +BMGC_DS21033,BMG_DS079497,,,,,,,,,"Hematoma, Epidural, Spinal",MeSH ID:D046748,,,, +BMGC_DS21034,BMG_DS079502,,,,,,,,,Premature Birth,MeSH ID:D047928,,,, +BMGC_DS21035,BMG_DS079503,,,,,,,,,Hepatic Insufficiency,MeSH ID:D048550,,,, +BMGC_DS21036,BMG_DS079504,,,,,,,,,"Micronuclei, Chromosome-Defective",MeSH ID:D048629,,,, +BMGC_DS21037,BMG_DS079507,,,,,,,,,"Plagiocephaly, Nonsynostotic",MeSH ID:D049068,,,, +BMGC_DS21038,BMG_DS079508,,,,,,,,,Prenatal Injuries,MeSH ID:D049188,,,, +BMGC_DS21039,BMG_DS079514,,,,,,,,,Growth Hormone-Secreting Pituitary Adenoma,MeSH ID:D049912,,,, +BMGC_DS21040,BMG_DS079515,,,,,,,,,ACTH-Secreting Pituitary Adenoma,MeSH ID:D049913,,,, +BMGC_DS21041,BMG_DS079516,,,,,,,,,Overweight,MeSH ID:D050177,,,, +BMGC_DS21042,BMG_DS079520,,,,,,,,,Stillbirth,MeSH ID:D050497,,,, +BMGC_DS21043,BMG_DS079521,,,,,,,bone fracture,MONDO:0005315,"Fractures, Bone",MeSH ID:D050723,,,, +BMGC_DS21044,BMG_DS079524,,,,,,,,,Post-Dural Puncture Headache,MeSH ID:D051299,,,, +BMGC_DS21045,BMG_DS079525,,,,,,,,,Mobility Limitation,MeSH ID:D051346,,,, +BMGC_DS21046,BMG_DS079526,,,,,,,,,"Neuralgia, Postherpetic",MeSH ID:D051474,,,, +BMGC_DS21047,BMG_DS079527,,,,,,,,,Hemospermia,MeSH ID:D051516,,,, +BMGC_DS21048,BMG_DS079530,,,,,,,,,"Histiocytoma, Malignant Fibrous",MeSH ID:D051677,,,, +BMGC_DS21049,BMG_DS079532,,,,,,,,,Mucositis,MeSH ID:D052016,mucositis,DOID:0080178,, +BMGC_DS21050,BMG_DS079537,,,,,,,,,Dysuria,MeSH ID:D053159,,,, +BMGC_DS21051,BMG_DS079539,,,,,,,,,Nocturnal Enuresis,MeSH ID:D053206,,,, +BMGC_DS21052,BMG_DS079541,,,,,,,,,"Ectodermal Dysplasia 1, Anhidrotic",MeSH ID:D053358,,,, +BMGC_DS21053,BMG_DS079542,,,,,,,,,"Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive",MeSH ID:D053360,,,, +BMGC_DS21054,BMG_DS079545,,,,,,,,,Ichthyosis Bullosa of Siemens,MeSH ID:D053560,,,, +BMGC_DS21055,BMG_DS079546,,,,,,,,,Hypercalciuria,MeSH ID:D053565,,,, +BMGC_DS21056,BMG_DS079550,,,,,,,,,Stupor,MeSH ID:D053608,,,, +BMGC_DS21057,BMG_DS079551,,,,,,,,,Lethargy,MeSH ID:D053609,,,, +BMGC_DS21058,BMG_DS079552,,,,,,,,,Aspermia,MeSH ID:D053714,,,, +BMGC_DS21059,BMG_DS079554,,,,,,,,,Microsatellite Instability,MeSH ID:D053842,,,, +BMGC_DS21060,BMG_DS079555,,,,,,,,,"Leukemia, Large Granular Lymphocytic",MeSH ID:D054066,,,, +BMGC_DS21061,BMG_DS079556,,,,,,,,,Vascular Malformations,MeSH ID:D054079,,,, +BMGC_DS21062,BMG_DS079559,,,,,,,,,Lissencephaly,MeSH ID:D054082,,,, +BMGC_DS21063,BMG_DS079562,,,,,,,,,Arachnodactyly,MeSH ID:D054119,,,, +BMGC_DS21064,BMG_DS079563,,,,,,,,,"Sinus Arrest, Cardiac",MeSH ID:D054138,,,, +BMGC_DS21065,BMG_DS079565,,,,,,,,,Precursor Cell Lymphoblastic Leukemia-Lymphoma,MeSH ID:D054198,,,, +BMGC_DS21066,BMG_DS079566,,,,,,,,,Precursor T-Cell Lymphoblastic Leukemia-Lymphoma,MeSH ID:D054218,,,, +BMGC_DS21067,BMG_DS079568,,,,,,,,,No-Reflow Phenomenon,MeSH ID:D054318,,,, +BMGC_DS21068,BMG_DS079569,,,,,,,X-linked spermatogenic failure 1,MONDO:0056795,Sertoli Cell-Only Syndrome,MeSH ID:D054331,,,,OMIM ID:305700 +BMGC_DS21069,BMG_DS079571,,,,,,,,,Solitary Fibrous Tumors,MeSH ID:D054364,,,, +BMGC_DS21070,BMG_DS079572,,,,,,,,,"Lymphoma, Extranodal NK-T-Cell",MeSH ID:D054391,,,, +BMGC_DS21071,BMG_DS079574,,,,,,,,,"Leukemia, Myelomonocytic, Juvenile",MeSH ID:D054429,,,, +BMGC_DS21072,BMG_DS079575,,,,,,,myelodysplastic/myeloproliferative disease,MONDO:0020077,Myelodysplastic-Myeloproliferative Diseases,MeSH ID:D054437,,,, +BMGC_DS21073,BMG_DS079576,,,,,,,,,"Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative",MeSH ID:D054438,,,, +BMGC_DS21074,BMG_DS079580,,,,,,,,,Hyperphosphatemia,MeSH ID:D054559,,,, +BMGC_DS21075,BMG_DS079585,,,,,,,,,Histiocytic Sarcoma,MeSH ID:D054747,histiocytic sarcoma,DOID:0080915,, +BMGC_DS21076,BMG_DS079587,,,,,,,primary dysautonomia,MONDO:0021809,Primary Dysautonomias,MeSH ID:D054969,,,, +BMGC_DS21077,BMG_DS079588,,,,,,,,,Orthostatic Intolerance,MeSH ID:D054971,,,, +BMGC_DS21078,BMG_DS079590,,,,,,,,,Pallister-Hall Syndrome,MeSH ID:D054975,,,, +BMGC_DS21079,BMG_DS079591,,,,,,,,,Primary Graft Dysfunction,MeSH ID:D055031,,,, +BMGC_DS21080,BMG_DS079594,,,,,,,,,Delayed Emergence from Anesthesia,MeSH ID:D055191,,,, +BMGC_DS21081,BMG_DS079596,,,,,,,acute lung injury,MONDO:0015796,Acute Lung Injury,MeSH ID:D055371,,,, +BMGC_DS21082,BMG_DS079600,,,,,,,,,"Keratosis, Actinic",MeSH ID:D055623,,,, +BMGC_DS21083,BMG_DS079601,,,,,,,,,Muir-Torre Syndrome,MeSH ID:D055653,,,, +BMGC_DS21084,BMG_DS079602,,,,,,,,,Primary Myelofibrosis,MeSH ID:D055728,,,, +BMGC_DS21085,BMG_DS079603,,,,,,,,,Small Cell Lung Carcinoma,MeSH ID:D055752,,,, +BMGC_DS21086,BMG_DS079605,,,,,,,,,Lynch Syndrome II,MeSH ID:D055847,,,, +BMGC_DS21087,BMG_DS079614,,,,,,,,,"Obesity, Abdominal",MeSH ID:D056128,,,, +BMGC_DS21088,BMG_DS079616,,,,,,,,,Airway Remodeling,MeSH ID:D056151,,,, +BMGC_DS21089,BMG_DS079622,,,,,,,,,Costello Syndrome,MeSH ID:D056685,,,, +BMGC_DS21090,BMG_DS079623,,,,,,,,,Silver-Russell Syndrome,MeSH ID:D056730,,,, +BMGC_DS21091,BMG_DS079624,,,,,,,,,Prolidase Deficiency,MeSH ID:D056732,,,, +BMGC_DS21092,BMG_DS079625,,,,,,,,,Monilethrix,MeSH ID:D056734,,,, +BMGC_DS21093,BMG_DS079626,,,,,,,,,Renal Colic,MeSH ID:D056844,,,, +BMGC_DS21094,BMG_DS079628,,,,,,,,,Barth Syndrome,MeSH ID:D056889,,,, +BMGC_DS21095,BMG_DS079634,,,,,,,,,Shellfish Poisoning,MeSH ID:D057096,,,, +BMGC_DS21096,BMG_DS079637,,,,,,,,,Wet Macular Degeneration,MeSH ID:D057135,,,, +BMGC_DS21097,BMG_DS079638,,,,,,,,,Frontotemporal Lobar Degeneration,MeSH ID:D057174,,,, +BMGC_DS21098,BMG_DS079640,,,,,,,,,Frontotemporal Dementia,MeSH ID:D057180,,,, +BMGC_DS21099,BMG_DS079642,,,,,,,,,Eosinophilic Esophagitis,MeSH ID:D057765,,,, +BMGC_DS21100,BMG_DS079644,,,,,,,,,Vascular System Injuries,MeSH ID:D057772,,,, +BMGC_DS21101,BMG_DS079656,,,,,,,,,Dent Disease,MeSH ID:D057973,,,, +BMGC_DS21102,BMG_DS079657,,,,,,,,,"Plaque, Amyloid",MeSH ID:D058225,,,, +BMGC_DS21103,BMG_DS079658,,,,,,,,,"Plaque, Atherosclerotic",MeSH ID:D058226,,,, +BMGC_DS21104,BMG_DS079659,,,,,,,,,Tungiasis,MeSH ID:D058285,tungiasis,DOID:0050266,, +BMGC_DS21105,BMG_DS079661,,,,,,,,,Desmoplastic Small Round Cell Tumor,MeSH ID:D058405,,,, +BMGC_DS21106,BMG_DS079662,,,,,,,,,Neointima,MeSH ID:D058426,,,, +BMGC_DS21107,BMG_DS079664,,,,,,,,,Eye Pain,MeSH ID:D058447,,,, +BMGC_DS21108,BMG_DS079665,,,,,,,,,Retinal Telangiectasis,MeSH ID:D058456,,,, +BMGC_DS21109,BMG_DS079666,,,,,,,,,Sotos Syndrome,MeSH ID:D058495,,,, +BMGC_DS21110,BMG_DS079667,,,,,,,,,Smith-Magenis Syndrome,MeSH ID:D058496,Smith-Magenis syndrome,DOID:0060768,, +BMGC_DS21111,BMG_DS079668,,,,,,,,,Fraser Syndrome,MeSH ID:D058497,Fraser syndrome,DOID:0090001,, +BMGC_DS21112,BMG_DS079669,,,,,,,,,Enteropathy-Associated T-Cell Lymphoma,MeSH ID:D058527,,,, +BMGC_DS21113,BMG_DS079676,,,,,,,,,Megalencephaly,MeSH ID:D058627,,,, +BMGC_DS21114,BMG_DS079682,,,,,,,,,Aberrant Crypt Foci,MeSH ID:D058739,,,, +BMGC_DS21115,BMG_DS079683,,,,,,,,,Inflammatory Breast Neoplasms,MeSH ID:D058922,,,, +BMGC_DS21116,BMG_DS079686,,,,,,,,,Nociceptive Pain,MeSH ID:D059226,,,, +BMGC_DS21117,BMG_DS079688,,,,,,,,,Tachypnea,MeSH ID:D059246,,,, +BMGC_DS21118,BMG_DS079691,,,,,,,,,Brachydactyly,MeSH ID:D059327,brachydactyly,DOID:0050581,, +BMGC_DS21119,BMG_DS079692,,,,,,,,,Peripheral Nerve Injuries,MeSH ID:D059348,,,, +BMGC_DS21120,BMG_DS079693,,,,,,,,,Musculoskeletal Pain,MeSH ID:D059352,,,, +BMGC_DS21121,BMG_DS079694,,,,,,,,,Mastodynia,MeSH ID:D059373,,,, +BMGC_DS21122,BMG_DS079698,,,,,,,,,Anhedonia,MeSH ID:D059445,,,, +BMGC_DS21123,BMG_DS079700,,,,,,,,,Polydipsia,MeSH ID:D059606,,,, +BMGC_DS21124,BMG_DS079706,,,,,,,,,"Angina, Stable",MeSH ID:D060050,,,, +BMGC_DS21125,BMG_DS079710,,,,,,,,,Dyscalculia,MeSH ID:D060705,dyscalculia,DOID:12568,, +BMGC_DS21126,BMG_DS079717,,,,,,,,,Agenesis of Corpus Callosum,MeSH ID:D061085,,,, +BMGC_DS21127,BMG_DS079718,,,,,,,,,Vascular Calcification,MeSH ID:D061205,,,, +BMGC_DS21128,BMG_DS079719,,,,,,,,,Neoplasm Micrometastasis,MeSH ID:D061206,,,, +BMGC_DS21129,BMG_DS079733,,,,,,,,,Hereditary Breast and Ovarian Cancer Syndrome,MeSH ID:D061325,,,, +BMGC_DS21130,BMG_DS079736,,,,,,,,,Organophosphate Poisoning,MeSH ID:D062025,,,, +BMGC_DS21131,BMG_DS079739,,,,,,,,,Steatocystoma Multiplex,MeSH ID:D062685,steatocystoma multiplex,DOID:0111556,, +BMGC_DS21132,BMG_DS079741,,,,,,,,,Lipoblastoma,MeSH ID:D062689,,,, +BMGC_DS21133,BMG_DS079743,,,,,,,,,Drug Overdose,MeSH ID:D062787,,,, +BMGC_DS21134,BMG_DS079745,,,,,,,,,Maternal Death,MeSH ID:D063130,,,, +BMGC_DS21135,BMG_DS079747,,,,,,,,,Retrognathia,MeSH ID:D063173,,,, +BMGC_DS21136,BMG_DS079749,,,,,,,,,Binge Drinking,MeSH ID:D063425,,,, +BMGC_DS21137,BMG_DS079752,,,,,,,,,Carcinogenesis,MeSH ID:D063646,,,, +BMGC_DS21138,BMG_DS079753,,,,,,,,,Myalgia,MeSH ID:D063806,,,, +BMGC_DS21139,BMG_DS079756,,,,,,,,,"Prostatic Neoplasms, Castration-Resistant",MeSH ID:D064129,castration-resistant prostate carcinoma,DOID:0080909,, +BMGC_DS21140,BMG_DS079760,,,,,,,obsolete chemically-induced disorder,MONDO:0029001,Chemically-Induced Disorders,MeSH ID:D064419,,,, +BMGC_DS21141,BMG_DS079761,,,,,,,,,Drug-Related Side Effects and Adverse Reactions,MeSH ID:D064420,,,, +BMGC_DS21142,BMG_DS079762,,,,,,,,,Triple Negative Breast Neoplasms,MeSH ID:D064726,,,, +BMGC_DS21143,BMG_DS079765,,,,,,,,,Teratogenesis,MeSH ID:D064793,,,, +BMGC_DS21144,BMG_DS079771,,,,,,,,,Corneal Injuries,MeSH ID:D065306,,,, +BMGC_DS21145,BMG_DS079778,,,,,,,,,"Hernias, Diaphragmatic, Congenital",MeSH ID:D065630,,,, +BMGC_DS21146,BMG_DS079779,,,,,,,,,"Rhinitis, Allergic",MeSH ID:D065631,,,, +BMGC_DS21147,BMG_DS079781,,,,,,,,,"Thyroid Carcinoma, Anaplastic",MeSH ID:D065646,,,, +BMGC_DS21148,BMG_DS079784,,,,,,,,,Polymicrogyria,MeSH ID:D065706,polymicrogyria,DOID:0080918,, +BMGC_DS21149,BMG_DS079785,,,,,,,,,Schizencephaly,MeSH ID:D065707,,,, +BMGC_DS21150,BMG_DS079787,,,,,,,,,Congenital Microtia,MeSH ID:D065817,,,, +BMGC_DS21151,BMG_DS079789,,,,,,,,,Perinatal Death,MeSH ID:D066087,,,, +BMGC_DS21152,BMG_DS079790,,,,,,,,,Infant Death,MeSH ID:D066088,,,, +BMGC_DS21153,BMG_DS079791,,,,,,,,,Cardiotoxicity,MeSH ID:D066126,,,, +BMGC_DS21154,BMG_DS079794,,,,,,,,,Vascular Remodeling,MeSH ID:D066253,,,, +BMGC_DS21155,BMG_DS079795,,,,,,,,,"Protein Aggregation, Pathological",MeSH ID:D066263,,,, +BMGC_DS21156,BMG_DS079796,,,,,,,,,,,acrokeratosis verruciformis,DOID:0050606,,OMIM ID:101900 +BMGC_DS21157,BMG_DS079797,,,,,,,,,,,adenylosuccinase lyase deficiency,DOID:0050762,,OMIM ID:103050 +BMGC_DS21158,BMG_DS079798,,,,,,,,,,,pseudohypoparathyroidism type 1A,DOID:0080053,,OMIM ID:103580 +BMGC_DS21159,BMG_DS079799,,,,,,,,,,,alcohol dependence,DOID:0050741,,OMIM ID:103780 +BMGC_DS21160,BMG_DS079800,,,,,,,,,,,Finnish type amyloidosis,DOID:0050637,,OMIM ID:105120 +BMGC_DS21161,BMG_DS079801,,,,,,,,,,,CST3-related cerebral amyloid angiopathy,DOID:0070027,,OMIM ID:105150 +BMGC_DS21162,BMG_DS079802,,,,,,,,,,,familial visceral amyloidosis,DOID:0050636,,OMIM ID:105200 +BMGC_DS21163,BMG_DS079803,,,,,,,,,,,intracranial berry aneurysm 1,DOID:0080964,,OMIM ID:105800 +BMGC_DS21164,BMG_DS079804,,,,,,,,,,,hereditary angioedema type I,DOID:0080939,,OMIM ID:106100 +BMGC_DS21165,BMG_DS079805,,,,,,,,,,,isolated anhidrosis with normal sweat glands,DOID:0060603,,OMIM ID:106190 +BMGC_DS21166,BMG_DS079806,,,,,,,,,,,aniridia 1,DOID:0070532,,OMIM ID:106210 +BMGC_DS21167,BMG_DS079807,,,,,,,,,,,ankylosing spondylitis 1,DOID:0080603,,OMIM ID:106300 +BMGC_DS21168,BMG_DS079808,,,,,,,,,,,nonsyndromic aplasia cutis congenita,DOID:0080661,,OMIM ID:107600 +BMGC_DS21169,BMG_DS079809,,,,,,,,,,,Stickler syndrome 1,DOID:0080676,,OMIM ID:108300 +BMGC_DS21170,BMG_DS079810,,,,,,,,,,,spermatogenic failure 2,DOID:0070164,,OMIM ID:108420 +BMGC_DS21171,BMG_DS079811,,,,,,,,,,,spastic ataxia 1,DOID:0050772,,OMIM ID:108600 +BMGC_DS21172,BMG_DS079812,,,,,,,,,,,spastic ataxia 7,DOID:0050945,,OMIM ID:108650 +BMGC_DS21173,BMG_DS079813,,,,,,,,,,,atelosteogenesis,DOID:0050648,,OMIM ID:108720 | OMIM ID:108721 | OMIM ID:256050 +BMGC_DS21174,BMG_DS079814,,,,,,,,,,,androgenic alopecia,DOID:0050801,,OMIM ID:109200 | OMIM ID:300710 | OMIM ID:612421 +BMGC_DS21175,BMG_DS079815,,,,,,,,,,,nevoid basal cell carcinoma syndrome 1,DOID:0070365,,OMIM ID:109400 +BMGC_DS21176,BMG_DS079816,,,,,,,,,,,primary biliary cholangitis 1,DOID:0070358,,OMIM ID:109720 +BMGC_DS21177,BMG_DS079817,,,,,,,,,,,aortic valve disease 1,DOID:0080333,,OMIM ID:109730 +BMGC_DS21178,BMG_DS079818,,,,,,,,,,,brachydactyly type B1,DOID:0110969,,OMIM ID:113000 +BMGC_DS21179,BMG_DS079819,,,,,,,,,,,brachydactyly type D,DOID:0110971,,OMIM ID:113200 +BMGC_DS21180,BMG_DS079820,,,,,,,,,,,brachydactyly type E1,DOID:0110972,,OMIM ID:113300 +BMGC_DS21181,BMG_DS079821,,,,,,,,,,,branchiooculofacial syndrome,DOID:0050691,,OMIM ID:113620 +BMGC_DS21182,BMG_DS079822,,,,,,,,,,,branchiootorenal syndrome 1,DOID:0111423,,OMIM ID:113650 +BMGC_DS21183,BMG_DS079823,,,,,,,,,,,progressive familial heart block type IA,DOID:0111074,,OMIM ID:113900 +BMGC_DS21184,BMG_DS079824,,,,,,,,,,,small intestine carcinoid neuroendocrine tumor,DOID:0050925,,OMIM ID:114900 +BMGC_DS21185,BMG_DS079825,,,,,,,,,,,progressive familial heart block,DOID:0111073,,OMIM ID:115080 | OMIM ID:PS113900 +BMGC_DS21186,BMG_DS079826,,,,,,,,,,,cardiofaciocutaneous syndrome 1,DOID:0111460,,OMIM ID:115150 +BMGC_DS21187,BMG_DS079827,,,,,,,,,,,hypertrophic cardiomyopathy 2,DOID:0110308,,OMIM ID:115195 +BMGC_DS21188,BMG_DS079828,,,,,,,,,,,hypertrophic cardiomyopathy 3,DOID:0110309,,OMIM ID:115196 +BMGC_DS21189,BMG_DS079829,,,,,,,,,,,hypertrophic cardiomyopathy 4,DOID:0110310,,OMIM ID:115197 +BMGC_DS21190,BMG_DS079830,,,,,,,,,,,dilated cardiomyopathy 1A,DOID:0110425,,OMIM ID:115200 +BMGC_DS21191,BMG_DS079831,,,,,,,,,,,restrictive cardiomyopathy 1,DOID:0111425,,OMIM ID:115210 +BMGC_DS21192,BMG_DS079832,,,,,,,,,,,cerebral cavernous malformation 1,DOID:0080491,,OMIM ID:116860 +BMGC_DS21193,BMG_DS079833,,,,,,,,,,,leukocyte adhesion deficiency 1,DOID:0110910,,OMIM ID:116920 +BMGC_DS21194,BMG_DS079834,,,,,,,,,,,spinocerebellar ataxia type 31,DOID:0050980,,OMIM ID:117210 +BMGC_DS21195,BMG_DS079835,,,,,,,,,,,ITM2B-related cerebral amyloid angiopathy 2,DOID:0070030,,OMIM ID:117300 +BMGC_DS21196,BMG_DS079836,,,,,,,,,,,spinocerebellar ataxia type 29,DOID:0050978,,OMIM ID:117360 +BMGC_DS21197,BMG_DS079837,,,,,,,,,,,Sotos syndrome 1,DOID:0112103,,OMIM ID:117550 +BMGC_DS21198,BMG_DS079838,,,,,,,,,,,Klippel-Feil syndrome 1,DOID:0080589,,OMIM ID:118100 +BMGC_DS21199,BMG_DS079839,,,,,,,,,,,familial chylomicronemia due to inhibition of lipoprotein lipase activity,DOID:0111419,,OMIM ID:118830 +BMGC_DS21200,BMG_DS079840,,,,,,,,,,,cone-rod dystrophy 2,DOID:0111005,,OMIM ID:120970 +BMGC_DS21201,BMG_DS079841,,,,,,,,,,,familial febrile seizures 1,DOID:0111307,,OMIM ID:121210 +BMGC_DS21202,BMG_DS079842,,,,,,,,,,,granular corneal dystrophy 1,DOID:0080530,,OMIM ID:121900 +BMGC_DS21203,BMG_DS079843,,,,,,,,,,,Cornelia de Lange syndrome 1,DOID:0080505,,OMIM ID:122470 +BMGC_DS21204,BMG_DS079844,,,,,,,,,,,warfarin resistance,DOID:0080665,,OMIM ID:122700 +BMGC_DS21205,BMG_DS079845,,,,,,,,,,,autosomal dominant craniodiaphyseal dysplasia,DOID:0080807,,OMIM ID:122860 +BMGC_DS21206,BMG_DS079846,,,,,,,,,,,craniosynostosis 1,DOID:0061010,,OMIM ID:123100 +BMGC_DS21207,BMG_DS079847,,,,,,,,,,,isolated elevated serum creatine phosphokinase levels,DOID:0111338,,OMIM ID:123320 +BMGC_DS21208,BMG_DS079848,,,,,,,,,,,Beare-Stevenson cutis gyrata syndrome,DOID:0050660,,OMIM ID:123790 +BMGC_DS21209,BMG_DS079849,,,,,,,,,,,autosomal dominant congenital deafness with onychodystrophy,DOID:0080720,,OMIM ID:124480 +BMGC_DS21210,BMG_DS079850,,,,,,,,,,,nephrogenic diabetes insipidus type 2,DOID:0081061,,OMIM ID:125800 +BMGC_DS21211,BMG_DS079851,,,,,,,,,,,maturity-onset diabetes of the young type 1,DOID:0111099,,OMIM ID:125850 +BMGC_DS21212,BMG_DS079852,,,,,,,,,,,maturity-onset diabetes of the young type 2,DOID:0111100,,OMIM ID:125851 +BMGC_DS21213,BMG_DS079853,,,,,,,,,,,Kenny-Caffey syndrome type 2,DOID:0080723,,OMIM ID:127000 +BMGC_DS21214,BMG_DS079854,,,,,,,,,,,Ehlers-Danlos syndrome classic type 2,DOID:0080726,,OMIM ID:130010 +BMGC_DS21215,BMG_DS079855,,,,,,,,,,,vascular type Ehlers-Danlos syndrome,DOID:14756,,OMIM ID:130050 +BMGC_DS21216,BMG_DS079856,,,,,,,,,,,Ehlers-Danlos syndrome spondylodysplastic type 1,DOID:0080738,,OMIM ID:130070 +BMGC_DS21217,BMG_DS079857,,,,,,,,,,,autosomal dominant dystrophic epidermolysis bullosa,DOID:0080224,,OMIM ID:131750 +BMGC_DS21218,BMG_DS079858,,,,,,,,,,,epidermolysis bullosa simplex localized type,DOID:0080510,,OMIM ID:131800 +BMGC_DS21219,BMG_DS079859,,,,,,,,,,,pretibial dystrophic epidermolysis bullosa,DOID:0080988,,OMIM ID:131850 +BMGC_DS21220,BMG_DS079860,,,,,,,,,,,spinocerebellar ataxia type 34,DOID:0050981,,OMIM ID:133190 +BMGC_DS21221,BMG_DS079861,,,,,,,,,,,Cockayne syndrome B,DOID:0080908,,OMIM ID:133540 +BMGC_DS21222,BMG_DS079862,,,,,,,,,,,autosomal hemophilia A,DOID:0111823,,OMIM ID:134500 +BMGC_DS21223,BMG_DS079863,,,,,,,,,,,congenital fibrosis of the extraocular muscles 1,DOID:0081015,,OMIM ID:135700 +BMGC_DS21224,BMG_DS079864,,,,,,,,,,,adermatoglyphia,DOID:0111357,,OMIM ID:136000 +BMGC_DS21225,BMG_DS079865,,,,,,,,,,,frontonasal dysplasia 1,DOID:0081045,,OMIM ID:136760 +BMGC_DS21226,BMG_DS079866,,,,,,,,,,,Gamstorp-Wohlfart syndrome,DOID:0050526,,OMIM ID:137200 +BMGC_DS21227,BMG_DS079867,,,,,,,,,,,extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue,DOID:0050909,,OMIM ID:137245 +BMGC_DS21228,BMG_DS079868,,,,,,,,,,,iridogoniodysgenesis syndrome,DOID:0050786,,OMIM ID:137600 | OMIM ID:601631 +BMGC_DS21229,BMG_DS079869,,,,,,,,,,,maturity-onset diabetes of the young type 5,DOID:0111101,,OMIM ID:137920 +BMGC_DS21230,BMG_DS079870,,,,,,,,,,,hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,DOID:0111360,,OMIM ID:137940 +BMGC_DS21231,BMG_DS079871,,,,,,,,,,,multinodular goiter,DOID:0050489,,OMIM ID:138800 | OMIM ID:300273 | OMIM ID:606082 | OMIM ID:PS138800 +BMGC_DS21232,BMG_DS079872,,,,,,,,,,,Heinz body anemia,DOID:0111363,,OMIM ID:140700 +BMGC_DS21233,BMG_DS079873,,,,,,,,,,,benign familial hematuria,DOID:0111365,,OMIM ID:141200 +BMGC_DS21234,BMG_DS079874,,,,,,,,,,,familial hepatic adenoma,DOID:0111366,,OMIM ID:142330 +BMGC_DS21235,BMG_DS079875,,,,,,,,,,,developmental dysplasia of the hip 1,DOID:0060931,,OMIM ID:142700 +BMGC_DS21236,BMG_DS079876,,,,,,,,,,,spondyloepiphyseal dysplasia with congenital joint dislocations,DOID:0050813,,OMIM ID:143095 +BMGC_DS21237,BMG_DS079877,,,,,,,,,,,epidermolytic palmoplantar keratoderma 1,DOID:0070552,,OMIM ID:144200 +BMGC_DS21238,BMG_DS079878,,,,,,,,,,,familial apolipoprotein A5 deficiency,DOID:0111421,,OMIM ID:144650 +BMGC_DS21239,BMG_DS079879,,,,,,,,,,,nonpapillary renal cell carcinoma,DOID:0050387,,OMIM ID:144700 +BMGC_DS21240,BMG_DS079880,,,,,,,,,,,familial progressive hyperpigmentation with or without hypopigmentation,DOID:0111373,,OMIM ID:145250 +BMGC_DS21241,BMG_DS079881,,,,,,,,,,,Teebi hypertelorism syndrome 1,DOID:0080698,,OMIM ID:145420 +BMGC_DS21242,BMG_DS079882,,,,,,,,,,,dystransthyretinemic hyperthyroxinemia,DOID:0080219,,OMIM ID:145680 +BMGC_DS21243,BMG_DS079883,,,,,,,,,,,Charcot-Marie-Tooth disease type 3,DOID:0050540,,OMIM ID:145900 +BMGC_DS21244,BMG_DS079884,,,,,,,,,,,adult hypophosphatasia,DOID:0110913,,OMIM ID:146300 +BMGC_DS21245,BMG_DS079885,,,,,,,,,,,hypotrichosis 2,DOID:0110699,,OMIM ID:146520 +BMGC_DS21246,BMG_DS079886,,,,,,,,,,,hypotrichosis 4,DOID:0110701,,OMIM ID:146550 +BMGC_DS21247,BMG_DS079887,,,,,,,,,,,solitary median maxillary central incisor,DOID:0111380,,OMIM ID:147250 +BMGC_DS21248,BMG_DS079888,,,,,,,,,,,punctate palmoplantar keratoderma type I,DOID:0080214,,OMIM ID:148600 | OMIM ID:614936 +BMGC_DS21249,BMG_DS079889,,,,,,,,,,,Bart-Pumphrey syndrome,DOID:0050658,,OMIM ID:149200 +BMGC_DS21250,BMG_DS079890,,,,,,,,,,,lacrimoauriculodentodigital syndrome 1,DOID:0050331,,OMIM ID:149730 +BMGC_DS21251,BMG_DS079891,,,,,,,,,,,Noonan syndrome with multiple lentigines 1,DOID:0080548,,OMIM ID:151100 +BMGC_DS21252,BMG_DS079892,,,,,,,,,,,nonsyndromic congenital nail disorder 3,DOID:0080081,,OMIM ID:151600 +BMGC_DS21253,BMG_DS079893,,,,,,,,,,,Li-Fraumeni syndrome 1,DOID:0111503,,OMIM ID:151623 +BMGC_DS21254,BMG_DS079894,,,,,,,,,,,hereditary lymphedema IA,DOID:0070210,,OMIM ID:153100 +BMGC_DS21255,BMG_DS079895,,,,,,,,,,,age related macular degeneration 2,DOID:0110015,,OMIM ID:153800 +BMGC_DS21256,BMG_DS079896,,,,,,,,,,,Treacher Collins syndrome 1,DOID:0080789,,OMIM ID:154500 +BMGC_DS21257,BMG_DS079897,,,,,,,,,,,Jansen's metaphyseal chondrodysplasia,DOID:0080020,,OMIM ID:156400 +BMGC_DS21258,BMG_DS079898,,,,,,,,,,,Schmid metaphyseal chondrodysplasia,DOID:0080021,,OMIM ID:156500 +BMGC_DS21259,BMG_DS079899,,,,,,,,,,,autosomal dominant progressive external ophthalmoplegia 1,DOID:0111521,,OMIM ID:157640 +BMGC_DS21260,BMG_DS079900,,,,,,,,,,,autosomal dominant distal hereditary motor neuronopathy 7,DOID:0111199,,OMIM ID:158580 +BMGC_DS21261,BMG_DS079901,,,,,,,,,,,spinal muscular atrophy with lower extremity predominant 1,DOID:0070351,,OMIM ID:158600 +BMGC_DS21262,BMG_DS079902,,,,,,,,,,,facioscapulohumeral muscular dystrophy 2,DOID:0111193,,OMIM ID:158901 +BMGC_DS21263,BMG_DS079903,,,,,,,,,,,episodic ataxia type 1,DOID:0050989,,OMIM ID:160120 +BMGC_DS21264,BMG_DS079904,,,,,,,,,,,centronuclear myopathy 1,DOID:0111223,,OMIM ID:160150 +BMGC_DS21265,BMG_DS079905,,,,,,,,,,,distal myopathy 1,DOID:0070197,,OMIM ID:160500 +BMGC_DS21266,BMG_DS079906,,,,,,,,,,,Thomsen disease,DOID:0081336,,OMIM ID:160800 +BMGC_DS21267,BMG_DS079908,,,,,,,,,,,nonsyndromic congenital nail disorder 1,DOID:0080079,,OMIM ID:161050 +BMGC_DS21268,BMG_DS079909,,,,,,,,,,,nemaline myopathy 3,DOID:0110927,,OMIM ID:161800 +BMGC_DS21269,BMG_DS079910,,,,,,,,,,,familial juvenile hyperuricemic nephropathy,DOID:0060062,,OMIM ID:162000 | OMIM ID:613092 | OMIM ID:614227 +BMGC_DS21270,BMG_DS079911,,,,,,,,,,,hereditary sensory and autonomic neuropathy type 1A,DOID:0070152,,OMIM ID:162400 +BMGC_DS21271,BMG_DS079912,,,,,,,,,,,stork bite,DOID:5806,,OMIM ID:163100 +BMGC_DS21272,BMG_DS079913,,,,,,,,,,,congenital nystagmus 2,DOID:0111792,,OMIM ID:164100 +BMGC_DS21273,BMG_DS079914,,,,,,,,,,,spinocerebellar ataxia type 1,DOID:0050954,,OMIM ID:164400 +BMGC_DS21274,BMG_DS079915,,,,,,,,,,,spinocerebellar ataxia type 7,DOID:0050958,,OMIM ID:164500 +BMGC_DS21275,BMG_DS079916,,,,,,,,,,,nonsyndromic congenital nail disorder 5,DOID:0080083,,OMIM ID:164800 +BMGC_DS21276,BMG_DS079918,,,,,,,,,,,optic atrophy 1,DOID:0111441,,OMIM ID:165500 +BMGC_DS21277,BMG_DS079919,,,,,,,,,,,inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1,DOID:0111385,,OMIM ID:167320 +BMGC_DS21278,BMG_DS079920,,,,,,,,,,,polycystic kidney disease 1,DOID:0110858,,OMIM ID:173900 +BMGC_DS21279,BMG_DS079921,,,,,,,,,,,polycystic liver disease 1,DOID:0060980,,OMIM ID:174050 +BMGC_DS21280,BMG_DS079922,,,,,,,,,,,preaxial polydactyly I,DOID:0060987,,OMIM ID:174400 +BMGC_DS21281,BMG_DS079923,,,,,,,,,,,preaxial polydactyly II,DOID:0060986,,OMIM ID:174500 +BMGC_DS21282,BMG_DS079924,,,,,,,,,,,preaxial polydactyly type IV,DOID:0060985,,OMIM ID:174700 +BMGC_DS21283,BMG_DS079925,,,,,,,,,,,juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome,DOID:0111543,,OMIM ID:175050 +BMGC_DS21284,BMG_DS079926,,,,,,,,,,,familial adenomatous polyposis 1,DOID:0080409,,OMIM ID:175100 +BMGC_DS21285,BMG_DS079927,,,,,,,,,,,brain small vessel disease 1,DOID:0090125,,OMIM ID:175780 +BMGC_DS21286,BMG_DS079928,,,,,,,,,,,punctate palmoplantar keratoderma type II,DOID:0080213,,OMIM ID:175860 +BMGC_DS21287,BMG_DS079929,,,,,,,,,,,ITM2B-related cerebral amyloid angiopathy 1,DOID:0070029,,OMIM ID:176500 +BMGC_DS21288,BMG_DS079930,,,,,,,,,,,psoriasis 1,DOID:0111286,,OMIM ID:177900 +BMGC_DS21289,BMG_DS079931,,,,,,,,,,,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",DOID:0081321,,OMIM ID:178110 +BMGC_DS21290,BMG_DS079932,,,,,,,,,,,retinal arterial tortuosity,DOID:0111547,,OMIM ID:180000 +BMGC_DS21291,BMG_DS079933,,,,,,,,,,,schizophrenia 1,DOID:0070077,,OMIM ID:181510 +BMGC_DS21292,BMG_DS079934,,,,,,,,,,,hereditary spherocytosis type 1,DOID:0110916,,OMIM ID:182900 +BMGC_DS21293,BMG_DS079935,,,,,,,,,,,spinocerebellar ataxia type 6,DOID:0050956,,OMIM ID:183086 +BMGC_DS21294,BMG_DS079936,,,,,,,,,,,spinocerebellar ataxia type 2,DOID:0050955,,OMIM ID:183090 +BMGC_DS21295,BMG_DS079937,,,,,,,,,,,autosomal dominant spondyloepiphyseal dysplasia tarda,DOID:0112285,,OMIM ID:184100 +BMGC_DS21296,BMG_DS079938,,,,,,,,,,,"spondyloepimetaphyseal dysplasia, Strudwick type",DOID:0080028,,OMIM ID:184250 +BMGC_DS21297,BMG_DS079939,,,,,,,,,,,"otospondylomegaepiphyseal dysplasia, autosomal dominant",DOID:0080677,,OMIM ID:184840 +BMGC_DS21298,BMG_DS079940,,,,,,,,,,,overhydrated hereditary stomatocytosis,DOID:0111562,,OMIM ID:185000 +BMGC_DS21299,BMG_DS079941,,,,,,,,,,,syndactyly type 1,DOID:0111816,,OMIM ID:185900 +BMGC_DS21300,BMG_DS079942,,,,,,,,,,,multiple synostoses syndrome 1,DOID:0081317,,OMIM ID:186500 +BMGC_DS21301,BMG_DS079943,,,,,,,,,,,beta-thalassemia major | thalassemia minor,DOID:0080774;DOID:0080771,,OMIM ID:187550 +BMGC_DS21302,BMG_DS079944,,,,,,,,,,,prothrombin thrombophilia,DOID:0080701,,OMIM ID:188050 +BMGC_DS21303,BMG_DS079945,,,,,,,,,,,esophageal atresia/tracheoesophageal fistula,DOID:0080171,,OMIM ID:189960 +BMGC_DS21304,BMG_DS079946,,,,,,,,,,,familial isolated trichomegaly,DOID:0111566,,OMIM ID:190330 +BMGC_DS21305,BMG_DS079947,,,,,,,,,,,trichorhinophalangeal syndrome type III,DOID:0080376,,OMIM ID:190351 +BMGC_DS21306,BMG_DS079948,,,,,,,,,,,uric acid urolithiasis,DOID:0080654,,OMIM ID:191700 +BMGC_DS21307,BMG_DS079949,,,,,,,,,,,hypertrophic cardiomyopathy 1,DOID:0110307,,OMIM ID:192600 +BMGC_DS21308,BMG_DS079950,,,,,,,,,,,autosomal dominant hypophosphatemic rickets,DOID:0050948,,OMIM ID:193100 +BMGC_DS21309,BMG_DS079951,,,,,,,,,,,Watson syndrome,DOID:0070483,,OMIM ID:193520 +BMGC_DS21310,BMG_DS079952,,,,,,,,,,,distal arthrogryposis type 2A,DOID:0111605,,OMIM ID:193700 +BMGC_DS21311,BMG_DS079953,,,,,,,,,,,autosomal dominant woolly hair,DOID:0111573,,OMIM ID:194300 +BMGC_DS21312,BMG_DS079954,,,,,,,,,,,acheiropody,DOID:0050603,,OMIM ID:200500 +BMGC_DS21313,BMG_DS079955,,,,,,,,,,,achondrogenesis type IA,DOID:0080054,,OMIM ID:200600 +BMGC_DS21314,BMG_DS079956,,,,,,,,,,,"acromesomelic dysplasia, Grebe type",DOID:0080052,,OMIM ID:200700 +BMGC_DS21315,BMG_DS079957,,,,,,,,,,,"acromesomelic dysplasia, Hunter-Thompson type",DOID:0080051,,OMIM ID:201250 +BMGC_DS21316,BMG_DS079958,,,,,,,,,,,hereditary sensory and autonomic neuropathy type 2A,DOID:0070155,,OMIM ID:201300 +BMGC_DS21317,BMG_DS079959,,,,,,,,,,,short chain acyl-CoA dehydrogenase deficiency,DOID:0080154,,OMIM ID:201470 +BMGC_DS21318,BMG_DS079960,,,,,,,,,,,very long chain acyl-CoA dehydrogenase deficiency,DOID:0080155,,OMIM ID:201475 +BMGC_DS21319,BMG_DS079961,,,,,,,,,,,glucocorticoid deficiency 1,DOID:0080621,,OMIM ID:202200 +BMGC_DS21320,BMG_DS079962,,,,,,,,,,,peroxisome biogenesis disorder 2B,DOID:0080622,,OMIM ID:202370 +BMGC_DS21321,BMG_DS079963,,,,,,,,,,,severe congenital neutropenia 1,DOID:0080625,,OMIM ID:202700 +BMGC_DS21322,BMG_DS079964,,,,,,,,,,,oculocutaneous albinism type IA,DOID:0070094,,OMIM ID:203100 +BMGC_DS21323,BMG_DS079965,,,,,,,,,,,Hermansky-Pudlak syndrome 1,DOID:0060539,,OMIM ID:203300 +BMGC_DS21324,BMG_DS079966,,,,,,,,,,,corticosterone methyloxidase deficiency 1,DOID:0080626,,OMIM ID:203400 +BMGC_DS21325,BMG_DS079967,,,,,,,,,,,alopecia-mental retardation syndrome 1,DOID:0080628,,OMIM ID:203650 +BMGC_DS21326,BMG_DS079968,,,,,,,,,,,2-aminoadipic 2-oxoadipic aciduria,DOID:0111453,,OMIM ID:204750 +BMGC_DS21327,BMG_DS079969,,,,,,,,,,,juvenile amyotrophic lateral sclerosis with dementia,DOID:0110067,,OMIM ID:205200 +BMGC_DS21328,BMG_DS079970,,,,,,,,,,,pyridoxine-responsive sideroblastic anemia,DOID:0060066,,OMIM ID:206000 +BMGC_DS21329,BMG_DS079971,,,,,,,,,,,hypochromic microcytic anemia,DOID:0050642,,OMIM ID:206100 | OMIM ID:615234 +BMGC_DS21330,BMG_DS079972,,,,,,,,,,,Antley-Bixler syndrome without disordered steroidogenesis,DOID:0081290,,OMIM ID:207410 +BMGC_DS21331,BMG_DS079973,,,,,,,,,,,"arthrogryposis, renal dysfunction, and cholestasis 1",DOID:0111353,,OMIM ID:208085 +BMGC_DS21332,BMG_DS079974,,,,,,,,,,,fetal akinesia deformation sequence syndrome 1,DOID:0111377,,OMIM ID:208150 +BMGC_DS21333,BMG_DS079975,,,,,,,,,,,atransferrinemia,DOID:0050649,,OMIM ID:209300 +BMGC_DS21334,BMG_DS079976,,,,,,,,,,,atrophoderma vermiculata,DOID:0080756,,OMIM ID:209700 +BMGC_DS21335,BMG_DS079977,,,,,,,,,,,Elsahy-Waters syndrome,DOID:0080631,,OMIM ID:211380 +BMGC_DS21336,BMG_DS079978,,,,,,,,,,,Fazio-Londe disease,DOID:0080632,,OMIM ID:211500 +BMGC_DS21337,BMG_DS079979,,,,,,,,,,,Brown-Vialetto-Van Laere syndrome 1,DOID:0080785,,OMIM ID:211530 +BMGC_DS21338,BMG_DS079980,,,,,,,,,,,hereditary arterial and articular multiple calcification syndrome,DOID:0111582,,OMIM ID:211800 +BMGC_DS21339,BMG_DS079981,,,,,,,,,,,congenital disorder of glycosylation Ia,DOID:0080552,,OMIM ID:212065 +BMGC_DS21340,BMG_DS079982,,,,,,,,,,,optic disc anomalies with retinal and/or macular dystrophy,DOID:0080635,,OMIM ID:212550 +BMGC_DS21341,BMG_DS079983,,,,,,,,,,,Joubert syndrome 1,DOID:0110980,,OMIM ID:213300 +BMGC_DS21342,BMG_DS079984,,,,,,,,,,,cerebrooculofacioskeletal syndrome 1,DOID:0080911,,OMIM ID:214150 +BMGC_DS21343,BMG_DS079985,,,,,,,,,,,Klippel-Feil syndrome 2,DOID:0080590,,OMIM ID:214300 +BMGC_DS21344,BMG_DS079986,,,,,,,,,,,metaphyseal dysplasia,DOID:0080019,,OMIM ID:215050 +BMGC_DS21345,BMG_DS079987,,,,,,,,,,,classic citrullinemia,DOID:0070340,,OMIM ID:215700 +BMGC_DS21346,BMG_DS079988,,,,,,,,,,,Cockayne syndrome A,DOID:0080907,,OMIM ID:216400 +BMGC_DS21347,BMG_DS079989,,,,,,,,,,,congenital hereditary endothelial dystrophy of cornea,DOID:0060649,,OMIM ID:217700 +BMGC_DS21348,BMG_DS079990,,,,,,,,,,,autosomal recessive craniometaphyseal dysplasia,DOID:0080802,,OMIM ID:218400 +BMGC_DS21349,BMG_DS079991,,,,,,,,,,,ACTH-independent macronodular adrenal hyperplasia 1,DOID:0111623,,OMIM ID:219080 +BMGC_DS21350,BMG_DS079992,,,,,,,,,,,autosomal-mitochondrial sensorineural deafness,DOID:0111752,,OMIM ID:221745 +BMGC_DS21351,BMG_DS079993,,,,,,,,,,,combined pituitary hormone deficiency 3,DOID:0061021,,OMIM ID:221750 +BMGC_DS21352,BMG_DS079994,,,,,,,,,,,familial erythrocytosis 8,DOID:0111630,,OMIM ID:222800 +BMGC_DS21353,BMG_DS079995,,,,,,,,,,,Dyggve-Melchior-Clausen disease,DOID:0111167,,OMIM ID:223800 +BMGC_DS21354,BMG_DS079996,,,,,,,,,,,"ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome",DOID:0111649,,OMIM ID:225280 +BMGC_DS21355,BMG_DS079997,,,,,,,,,,,Ehlers-Danlos syndrome cardiac valvular type,DOID:0080730,,OMIM ID:225320 +BMGC_DS21356,BMG_DS079998,,,,,,,,,,,Ehlers-Danlos syndrome kyphoscoliotic type 1,DOID:0080734,,OMIM ID:225400 +BMGC_DS21357,BMG_DS079999,,,,,,,,,,,Fanconi anemia complementation group A,DOID:0111095,,OMIM ID:227650 +BMGC_DS21358,BMG_DS080000,,,,,,,,,,,infantile myofibromatosis,DOID:0080109,,OMIM ID:228550 | OMIM ID:615293 +BMGC_DS21359,BMG_DS080001,,,,,,,,,,,GM1 gangliosidosis type 1,DOID:0080502,,OMIM ID:230500 +BMGC_DS21360,BMG_DS080002,,,,,,,,,,,GM1 gangliosidosis type 2,DOID:0080501,,OMIM ID:230600 +BMGC_DS21361,BMG_DS080003,,,,,,,,,,,GM1 gangliosidosis type 3,DOID:0080489,,OMIM ID:230650 +BMGC_DS21362,BMG_DS080004,,,,,,,,,,,GAPO syndrome,DOID:0112249,,OMIM ID:230740 +BMGC_DS21363,BMG_DS080005,,,,,,,,,,,Gaucher's disease type IIIC,DOID:0112250,,OMIM ID:231005 +BMGC_DS21364,BMG_DS080006,,,,,,,,,,,Ghosal hematodiaphyseal syndrome,DOID:0112251,,OMIM ID:231095 +BMGC_DS21365,BMG_DS080007,,,,,,,,,,,triple-A syndrome,DOID:0050602,,OMIM ID:231550 +BMGC_DS21366,BMG_DS080008,,,,,,,,,,,glutaric acidemia type 3,DOID:0112246,,OMIM ID:231690 +BMGC_DS21367,BMG_DS080009,,,,,,,,,,,congenital nonspherocytic hemolytic anemia 6,DOID:0112252,,OMIM ID:231900 +BMGC_DS21368,BMG_DS080010,,,,,,,,,,,glycogen storage disease Ia,DOID:2749,,OMIM ID:232200 +BMGC_DS21369,BMG_DS080011,,,,,,,,,,,glycogen storage disease Ib,DOID:0081330,,OMIM ID:232220 +BMGC_DS21370,BMG_DS080012,,,,,,,,,,,ovarian dysgenesis 1,DOID:0080493,,OMIM ID:233300 +BMGC_DS21371,BMG_DS080013,,,,,,,,,,,Perrault syndrome,DOID:0050857,,OMIM ID:233400 | OMIM ID:614129 | OMIM ID:614926 | OMIM ID:615300 | OMIM ID:PS233400 +BMGC_DS21372,BMG_DS080014,,,,,,,,,,,"46,XY sex reversal 7",DOID:0111774,,OMIM ID:233420 +BMGC_DS21373,BMG_DS080015,,,,,,,,,,,autosomal recessive chronic granulomatous disease 1,DOID:0070192,,OMIM ID:233700 +BMGC_DS21374,BMG_DS080016,,,,,,,,,,,autosomal recessive chronic granulomatous disease 2,DOID:0070191,,OMIM ID:233710 +BMGC_DS21375,BMG_DS080017,,,,,,,,,,,BH4-deficient hyperphenylalaninemia B,DOID:0112225,,OMIM ID:233910 +BMGC_DS21376,BMG_DS080018,,,,,,,,,,,nonphotosensitive trichothiodystrophy 4,DOID:0050528,,OMIM ID:234050 +BMGC_DS21377,BMG_DS080019,,,,,,,,,,,holoprosencephaly 1,DOID:0110881,,OMIM ID:236100 +BMGC_DS21378,BMG_DS080020,,,,,,,,,,,homocystinuria-megaloblastic anemia cblE type,DOID:0112255,,OMIM ID:236270 +BMGC_DS21379,BMG_DS080021,,,,,,,,,,,"multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly",DOID:0080327,,OMIM ID:236500 +BMGC_DS21380,BMG_DS080022,,,,,,,,,,,congenital muscular dystrophy-dystroglycanopathy type A1,DOID:0111237,,OMIM ID:236670 +BMGC_DS21381,BMG_DS080023,,,,,,,,,,,N-acetylglutamate synthase deficiency,DOID:0112258,,OMIM ID:237310 +BMGC_DS21382,BMG_DS080024,,,,,,,,,,,Leydig cell hypoplasia type I,DOID:0112260,,OMIM ID:238320 +BMGC_DS21383,BMG_DS080025,,,,,,,,,,,ornithine translocase deficiency,DOID:0050720,,OMIM ID:238970 +BMGC_DS21384,BMG_DS080026,,,,,,,,,,,Paget's disease of bone 5,DOID:0081368,,OMIM ID:239000 +BMGC_DS21385,BMG_DS080027,,,,,,,,,,,SOST-related sclerosing bone dysplasia,DOID:0080036,,OMIM ID:239100 +BMGC_DS21386,BMG_DS080028,,,,,,,,,,,hyperprolinemia type 1,DOID:0080542,,OMIM ID:239500 +BMGC_DS21387,BMG_DS080029,,,,,,,,,,,autoimmune polyendocrine syndrome type 1,DOID:0050167,,OMIM ID:240300 +BMGC_DS21388,BMG_DS080030,,,,,,,,,,,leucine-sensitive hypoglycemia of infancy,DOID:0112262,,OMIM ID:240800 +BMGC_DS21389,BMG_DS080031,,,,,,,,,,,infantile hypophosphatasia,DOID:0110914,,OMIM ID:241500 +BMGC_DS21390,BMG_DS080032,,,,,,,,,,,childhood hypophosphatasia,DOID:0110915,,OMIM ID:241510 +BMGC_DS21391,BMG_DS080033,,,,,,,,,,,autosomal recessive hypophosphatemic rickets,DOID:0050949,,OMIM ID:241520 | OMIM ID:613312 +BMGC_DS21392,BMG_DS080034,,,,,,,,,,,Bamforth-Lazarus syndrome,DOID:0050655,,OMIM ID:241850 +BMGC_DS21393,BMG_DS080035,,,,,,,,,,,neuronal intestinal dysplasia type A,DOID:0080679,,OMIM ID:243180 +BMGC_DS21394,BMG_DS080036,,,,,,,,,,,benign recurrent intrahepatic cholestasis 1,DOID:0070231,,OMIM ID:243300 +BMGC_DS21395,BMG_DS080037,,,,,,,,,,,familial lipase maturation factor 1 deficiency,DOID:0111422,,OMIM ID:246650 +BMGC_DS21396,BMG_DS080038,,,,,,,,,,,3MC syndrome 3,DOID:0060577,,OMIM ID:248340 +BMGC_DS21397,BMG_DS080039,,,,,,,,,,,mandibuloacral dysplasia type A lipodystrophy,DOID:0081128,,OMIM ID:248370 +BMGC_DS21398,BMG_DS080040,,,,,,,,,,,Treacher Collins syndrome 3,DOID:0080791,,OMIM ID:248390 +BMGC_DS21399,BMG_DS080041,,,,,,,,,,,Marinesco-Sjogren syndrome,DOID:0080195,,OMIM ID:248800 +BMGC_DS21400,BMG_DS080042,,,,,,,,,,,autosomal recessive intellectual developmental disorder 1,DOID:0081177,,OMIM ID:249500 +BMGC_DS21401,BMG_DS080043,,,,,,,,,,,3-hydroxyisobutryl-CoA hydrolase deficiency,DOID:0060949,,OMIM ID:250620 +BMGC_DS21402,BMG_DS080044,,,,,,,,,,,homocystinuria-megaloblastic anemia cblG type,DOID:0112256,,OMIM ID:250940 +BMGC_DS21403,BMG_DS080045,,,,,,,,,,,primary autosomal recessive microcephaly 1,DOID:0070285,,OMIM ID:251200 +BMGC_DS21404,BMG_DS080046,,,,,,,,,,,microcephaly-micromelia syndrome,DOID:0081432,,OMIM ID:251230 +BMGC_DS21405,BMG_DS080047,,,,,,,,,,,orofaciodigital syndrome II,DOID:0060959,,OMIM ID:252100 +BMGC_DS21406,BMG_DS080048,,,,,,,,,,,mucolipidosis II alpha/beta,DOID:0080070,,OMIM ID:252500 +BMGC_DS21407,BMG_DS080049,,,,,,,,,,,mucolipidosis III alpha/beta,DOID:0080071,,OMIM ID:252600 +BMGC_DS21408,BMG_DS080050,,,,,,,,,,,mucolipidosis type IV,DOID:0080490,,OMIM ID:252650 +BMGC_DS21409,BMG_DS080051,,,,,,,,,,,Fukuyama congenital muscular dystrophy,DOID:0050559,,OMIM ID:253800 +BMGC_DS21410,BMG_DS080052,,,,,,,,,,,Miyoshi muscular dystrophy 1,DOID:0070199,,OMIM ID:254130 +BMGC_DS21411,BMG_DS080053,,,,,,,,,,,congenital myasthenic syndrome 6,DOID:0110671,,OMIM ID:254210 +BMGC_DS21412,BMG_DS080054,,,,,,,,,,,congenital myasthenic syndrome 10,DOID:0110668,,OMIM ID:254300 +BMGC_DS21413,BMG_DS080055,,,,,,,,,,,progressive myoclonus epilepsy 1A,DOID:0111452,,OMIM ID:254800 +BMGC_DS21414,BMG_DS080056,,,,,,,,,,,autosomal recessive hyaline body myopathy,DOID:0111268,,OMIM ID:255160 +BMGC_DS21415,BMG_DS080057,,,,,,,,,,,Becker disease,DOID:0081335,,OMIM ID:255300 | OMIM ID:255700 +BMGC_DS21416,BMG_DS080058,,,,,,,,,,,congenital myopathy 4A,DOID:0080102,,OMIM ID:255310 +BMGC_DS21417,BMG_DS080059,,,,,,,,,,,congenital myopathy 1B,DOID:0080991,,OMIM ID:255320 +BMGC_DS21418,BMG_DS080060,,,,,,,,,,,nephronophthisis 1,DOID:0111112,,OMIM ID:256100 +BMGC_DS21419,BMG_DS080061,,,,,,,,,,,familial hyperinsulinemic hypoglycemia 1,DOID:0070219,,OMIM ID:256450 +BMGC_DS21420,BMG_DS080062,,,,,,,,,,,atypical hereditary sensory neuropathy,DOID:0070160,,OMIM ID:256860 +BMGC_DS21421,BMG_DS080063,,,,,,,,,,,mosaic variegated aneuploidy syndrome 1,DOID:0080141,,OMIM ID:257300 +BMGC_DS21422,BMG_DS080064,,,,,,,,,,,"ocular motor apraxia, Cogan type",DOID:0080849,,OMIM ID:257550 +BMGC_DS21423,BMG_DS080065,,,,,,,,,,,3MC syndrome 1,DOID:0060575,,OMIM ID:257920 +BMGC_DS21424,BMG_DS080066,,,,,,,,,,,bladder exstrophy-epispadias-cloacal exstrophy complex | cloacal exstrophy,DOID:0080175;DOID:0080173,,OMIM ID:258040 +BMGC_DS21425,BMG_DS080067,,,,,,,,,,,Oguchi disease-1,DOID:0110712,,OMIM ID:258100 +BMGC_DS21426,BMG_DS080068,,,,,,,,,,,spermatogenic failure 1,DOID:0070188,,OMIM ID:258150 +BMGC_DS21427,BMG_DS080069,,,,,,,,,,,3-methylglutaconic aciduria type 3,DOID:0110004,,OMIM ID:258501 +BMGC_DS21428,BMG_DS080070,,,,,,,,,,,autosomal recessive osteopetrosis 1,DOID:0110942,,OMIM ID:259700 +BMGC_DS21429,BMG_DS080071,,,,,,,,,,,autosomal recessive osteopetrosis 2,DOID:0110943,,OMIM ID:259710 +BMGC_DS21430,BMG_DS080072,,,,,,,,,,,autosomal recessive osteopetrosis 5,DOID:0110939,,OMIM ID:259720 +BMGC_DS21431,BMG_DS080073,,,,,,,,,,,Parkinson's disease 15,DOID:0060372,,OMIM ID:260300 +BMGC_DS21432,BMG_DS080074,,,,,,,,,,,hyperimmunoglobulinemia D periodic fever syndrome,DOID:0081450,,OMIM ID:260920 +BMGC_DS21433,BMG_DS080075,,,,,,,,,,,congenital intrinsic factor deficiency,DOID:0050734,,OMIM ID:261000 +BMGC_DS21434,BMG_DS080076,,,,,,,,,,,Peters plus syndrome,DOID:0080201,,OMIM ID:261540 +BMGC_DS21435,BMG_DS080077,,,,,,,,,,,BH4-deficient hyperphenylalaninemia C,DOID:0081130,,OMIM ID:261630 +BMGC_DS21436,BMG_DS080078,,,,,,,,,,,combined pituitary hormone deficiency 2,DOID:0061020,,OMIM ID:262600 +BMGC_DS21437,BMG_DS080079,,,,,,,,,,,polycystic kidney disease 4,DOID:0080212,,OMIM ID:263200 +BMGC_DS21438,BMG_DS080080,,,,,,,,,,,BH4-deficient hyperphenylalaninemia D,DOID:0081131,,OMIM ID:264070 +BMGC_DS21439,BMG_DS080081,,,,,,,,,,,Wiedemann-Rautenstrauch syndrome,DOID:0081333,,OMIM ID:264090 +BMGC_DS21440,BMG_DS080082,,,,,,,,,,,vitamin D-dependent rickets type 1A,DOID:0080886,,OMIM ID:264700 +BMGC_DS21441,BMG_DS080083,,,,,,,,,,,3MC syndrome 2,DOID:0060576,,OMIM ID:265050 +BMGC_DS21442,BMG_DS080084,,,,,,,,,,,congenital nonspherocytic hemolytic anemia 8,DOID:0051007,,OMIM ID:266120 +BMGC_DS21443,BMG_DS080085,,,,,,,,,,,glutatione synthetase deficiency with 5-oxoprolinuria,DOID:0081034,,OMIM ID:266130 +BMGC_DS21444,BMG_DS080086,,,,,,,,,,,inflammatory bowel disease 1,DOID:0110892,,OMIM ID:266600 +BMGC_DS21445,BMG_DS080087,,,,,,,,,,,familial hemophagocytic lymphohistiocytosis 1,DOID:0110921,,OMIM ID:267700 +BMGC_DS21446,BMG_DS080088,,,,,,,,,,,Revesz syndrome,DOID:0070026,,OMIM ID:268130 +BMGC_DS21447,BMG_DS080089,,,,,,,,,,,autoimmune polyendocrine syndrome type 2,DOID:0050168,,OMIM ID:269200 +BMGC_DS21448,BMG_DS080090,,,,,,,,,,,spermatogenic failure 4,DOID:0070176,,OMIM ID:270960 +BMGC_DS21449,BMG_DS080091,,,,,,,,,,,hereditary spherocytosis type 3,DOID:0110918,,OMIM ID:270970 +BMGC_DS21450,BMG_DS080092,,,,,,,,,,,autosomal recessive spondyloepiphyseal dysplasia tarda,DOID:0112293,,OMIM ID:271600 +BMGC_DS21451,BMG_DS080093,,,,,,,,,,,spondyloperipheral dysplasia,DOID:0112195,,OMIM ID:271700 +BMGC_DS21452,BMG_DS080094,,,,,,,,,,,Sugarman brachydactyly,DOID:0110979,,OMIM ID:272150 +BMGC_DS21453,BMG_DS080095,,,,,,,,,,,cold-induced sweating syndrome 1,DOID:0080329,,OMIM ID:272430 +BMGC_DS21454,BMG_DS080096,,,,,,,,,,,transcobalamin II deficiency,DOID:0050818,,OMIM ID:275350 +BMGC_DS21455,BMG_DS080097,,,,,,,,,,,Chanarin-Dorfman syndrome,DOID:0050729,,OMIM ID:275630 +BMGC_DS21456,BMG_DS080098,,,,,,,,,,,mismatch repair cancer syndrome,DOID:0112182,,OMIM ID:276300 +BMGC_DS21457,BMG_DS080099,,,,,,,,,,,tyrosinemia type II,DOID:0050725,,OMIM ID:276600 +BMGC_DS21458,BMG_DS080100,,,,,,,,,,,tyrosinemia type I,DOID:0050726,,OMIM ID:276700 +BMGC_DS21459,BMG_DS080101,,,,,,,,,,,tyrosinemia type III,DOID:0050727,,OMIM ID:276710 +BMGC_DS21460,BMG_DS080102,,,,,,,,,,,Schinzel type phocomelia,DOID:0112181,,OMIM ID:276820 +BMGC_DS21461,BMG_DS080103,,,,,,,,,,,Mayer-Rokitansky-Kuster-Hauser syndrome type 1,DOID:0112178,,OMIM ID:277000 +BMGC_DS21462,BMG_DS080104,,,,,,,,,,,autosomal recessive congenital bilateral absence of vas deferens,DOID:0111864,,OMIM ID:277180 +BMGC_DS21463,BMG_DS080105,,,,,,,,,,,spondylocostal dysostosis 1,DOID:0112365,,OMIM ID:277300 +BMGC_DS21464,BMG_DS080106,,,,,,,,,,,methylmalonic aciduria and homocystinuria type cblF,DOID:0050717,,OMIM ID:277380 +BMGC_DS21465,BMG_DS080107,,,,,,,,,,,methylmalonic aciduria and homocystinuria type cblD,DOID:0050716,,OMIM ID:277410 +BMGC_DS21466,BMG_DS080108,,,,,,,,,,,vitamin D-dependent rickets type 2A,DOID:0080884,,OMIM ID:277440 +BMGC_DS21467,BMG_DS080109,,,,,,,,,,,autosomal recessive Whistling face syndrome,DOID:0111606,,OMIM ID:277720 +BMGC_DS21468,BMG_DS080110,,,,,,,,,,,Opitz GBBB syndrome,DOID:0080697,,OMIM ID:300000 +BMGC_DS21469,BMG_DS080111,,,,,,,,,,,corpus callosum agenesis-abnormal genitalia syndrome,DOID:0112151,,OMIM ID:300004 +BMGC_DS21470,BMG_DS080112,,,,,,,,,,,X-linked deafness 3,DOID:0111736,,OMIM ID:300030 +BMGC_DS21471,BMG_DS080113,,,,,,,,,,,non-syndromic X-linked intellectual disability 23,DOID:0112049,,OMIM ID:300046 +BMGC_DS21472,BMG_DS080114,,,,,,,,,,,non-syndromic X-linked intellectual disability 20,DOID:0112023,,OMIM ID:300047 +BMGC_DS21473,BMG_DS080115,,,,,,,,,,,non-syndromic X-linked intellectual disability 14,DOID:0112027,,OMIM ID:300062 +BMGC_DS21474,BMG_DS080116,,,,,,,,,,,X-linked deafness 4,DOID:0111735,,OMIM ID:300066 +BMGC_DS21475,BMG_DS080117,,,,,,,,,,,fetal akinesia deformation sequence syndrome X-linked,DOID:0081043,,OMIM ID:300073 +BMGC_DS21476,BMG_DS080118,,,,,,,,,,,X-linked adrenal hypoplasia congenita,DOID:0080156,,OMIM ID:300200 +BMGC_DS21477,BMG_DS080119,,,,,,,,,,,Simpson-Golabi-Behmel syndrome type 2,DOID:0080342,,OMIM ID:300209 +BMGC_DS21478,BMG_DS080120,,,,,,,,,,,X-linked lissencephaly 2,DOID:0112238,,OMIM ID:300215 +BMGC_DS21479,BMG_DS080121,,,,,,,,,,,non-syndromic X-linked intellectual disability 72,DOID:0112059,,OMIM ID:300271 +BMGC_DS21480,BMG_DS080122,,,,,,,,,,,ectodermal dysplasia and immunodeficiency 1,DOID:0081078,,OMIM ID:300291 +BMGC_DS21481,BMG_DS080123,,,,,,,,,,,HRPT-related hyperuricemia,DOID:0112127,,OMIM ID:300323 +BMGC_DS21482,BMG_DS080124,,,,,,,,,,,non-syndromic X-linked intellectual disability 53,DOID:0112047,,OMIM ID:300324 +BMGC_DS21483,BMG_DS080125,,,,,,,,,,,cerebral creatine deficiency syndrome 1,DOID:0050800,,OMIM ID:300352 +BMGC_DS21484,BMG_DS080126,,,,,,,,,,,non-syndromic X-linked intellectual disability 73,DOID:0112017,,OMIM ID:300355 +BMGC_DS21485,BMG_DS080127,,,,,,,,,,,non-syndromic X-linked intellectual disability 42,DOID:0112057,,OMIM ID:300372 +BMGC_DS21486,BMG_DS080128,,,,,,,,,,,non-syndromic X-linked intellectual disability 63,DOID:0112050,,OMIM ID:300387 +BMGC_DS21487,BMG_DS080129,,,,,,,,,,,non-syndromic X-linked intellectual disability 2,DOID:0112016,,OMIM ID:300428 +BMGC_DS21488,BMG_DS080130,,,,,,,,,,,non-syndromic X-linked intellectual disability 81,DOID:0112033,,OMIM ID:300433 +BMGC_DS21489,BMG_DS080131,,,,,,,,,,,Stocco Dos Santos type X-linked intellectual disability,DOID:0112126,,OMIM ID:300434 +BMGC_DS21490,BMG_DS080132,,,,,,,,,,,non-syndromic X-linked intellectual disability 46,DOID:0112055,,OMIM ID:300436 +BMGC_DS21491,BMG_DS080133,,,,,,,,,,,non-syndromic X-linked intellectual disability 77,DOID:0112039,,OMIM ID:300454 +BMGC_DS21492,BMG_DS080134,,,,,,,,,,,X-linked retinitis pigmentosa and sinorespiratory infections,DOID:0112124,,OMIM ID:300455 +BMGC_DS21493,BMG_DS080135,,,,,,,,,,,X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance,DOID:0080311,,OMIM ID:300486 +BMGC_DS21494,BMG_DS080136,,,,,,,,,,,non-syndromic X-linked intellectual disability 45,DOID:0112028,,OMIM ID:300498 +BMGC_DS21495,BMG_DS080137,,,,,,,,,,,non-syndromic X-linked intellectual disability 84,DOID:0112030,,OMIM ID:300505 +BMGC_DS21496,BMG_DS080138,,,,,,,,,,,primary ovarian insufficiency 4,DOID:0080861,,OMIM ID:300510 +BMGC_DS21497,BMG_DS080139,,,,,,,,,,,primary ovarian insufficiency 2A,DOID:0080858,,OMIM ID:300511 +BMGC_DS21498,BMG_DS080140,,,,,,,,,,,non-syndromic X-linked intellectual disability 82,DOID:0112052,,OMIM ID:300518 +BMGC_DS21499,BMG_DS080141,,,,,,,,,,,X-linked recessive hypophosphatemic rickets,DOID:0080353,,OMIM ID:300554 +BMGC_DS21500,BMG_DS080142,,,,,,,,,,,non-syndromic X-linked intellectual disability 91,DOID:0112043,,OMIM ID:300577 +BMGC_DS21501,BMG_DS080143,,,,,,,,,,,X-linked congenital myopathy with fiber-type disproportion,DOID:0111226,,OMIM ID:300580 +BMGC_DS21502,BMG_DS080144,,,,,,,,,,,SHOX-related short stature,DOID:0112120,,OMIM ID:300582 +BMGC_DS21503,BMG_DS080145,,,,,,,,,,,congenital nystagmus 5,DOID:0111796,,OMIM ID:300589 +BMGC_DS21504,BMG_DS080146,,,,,,,,,,,Cornelia de Lange syndrome 2,DOID:0080506,,OMIM ID:300590 +BMGC_DS21505,BMG_DS080147,,,,,,,,,,,primary ovarian insufficiency 2B,DOID:0080859,,OMIM ID:300604 +BMGC_DS21506,BMG_DS080148,,,,,,,,,,,developmental and epileptic encephalopathy 8,DOID:0080215,,OMIM ID:300607 +BMGC_DS21507,BMG_DS080149,,,,,,,,,,,X-linked deafness 5,DOID:0111741,,OMIM ID:300614 +BMGC_DS21508,BMG_DS080150,,,,,,,,,,,Tn polyagglutination syndrome,DOID:0080520,,OMIM ID:300622 +BMGC_DS21509,BMG_DS080151,,,,,,,,,,,developmental and epileptic encephalopathy 2,DOID:0080467,,OMIM ID:300672 +BMGC_DS21510,BMG_DS080152,,,,,,,,,,,X-linked Emery-Dreifuss muscular dystrophy 6,DOID:0070251,,OMIM ID:300696 +BMGC_DS21511,BMG_DS080153,,,,,,,,,,,non-syndromic X-linked intellectual disability,DOID:0050776,,OMIM ID:300716 | OMIM ID:PS309530 +BMGC_DS21512,BMG_DS080154,,,,,,,,,,,sideroblastic anemia 1,DOID:0060063,,OMIM ID:300751 +BMGC_DS21513,BMG_DS080155,,,,,,,,,,,Alzheimer's disease 16,DOID:0110036,,OMIM ID:300756 +BMGC_DS21514,BMG_DS080156,,,,,,,,,,,non-syndromic X-linked intellectual disability 97,DOID:0112046,,OMIM ID:300803 +BMGC_DS21515,BMG_DS080157,,,,,,,,,,,non-syndromic X-linked intellectual disability 89,DOID:0112031,,OMIM ID:300848 +BMGC_DS21516,BMG_DS080158,,,,,,,,,,,non-syndromic X-linked intellectual disability 90,DOID:0112041,,OMIM ID:300850 +BMGC_DS21517,BMG_DS080159,,,,,,,,,,,non-syndromic X-linked intellectual disability 92,DOID:0112032,,OMIM ID:300851 +BMGC_DS21518,BMG_DS080160,,,,,,,,,,,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia",DOID:0080319,,OMIM ID:300853 +BMGC_DS21519,BMG_DS080161,,,,,,,,,,,Ogden syndrome,DOID:0050781,,OMIM ID:300855 +BMGC_DS21520,BMG_DS080162,,,,,,,,,,,syndromic X-linked intellectual disability 17,DOID:0060803,,OMIM ID:300858 +BMGC_DS21521,BMG_DS080163,,,,,,,,,,,syndromic X-linked intellectual disability Chudley-Schwartz type,DOID:0060819,,OMIM ID:300861 +BMGC_DS21522,BMG_DS080164,,,,,,,,,,,intracranial berry aneurysm 5,DOID:0080968,,OMIM ID:300870 +BMGC_DS21523,BMG_DS080165,,,,,,,,,,,developmental and epileptic encephalopathy 36,DOID:0080470,,OMIM ID:300884 +BMGC_DS21524,BMG_DS080166,,,,,,,,,,,congenital disorder of glycosylation type IIm,DOID:0070265,,OMIM ID:300896 +BMGC_DS21525,BMG_DS080167,,,,,,,,,,,non-syndromic X-linked intellectual disability 99,DOID:0112026,,OMIM ID:300919 +BMGC_DS21526,BMG_DS080168,,,,,,,,,,,congenital disorder of glycosylation Iy,DOID:0080574,,OMIM ID:300934 +BMGC_DS21527,BMG_DS080169,,,,,,,,,,,growth hormone secreting pituitary adenoma 2,DOID:0112007,,OMIM ID:300943 +BMGC_DS21528,BMG_DS080170,,,,,,,,,,,syndromic X-linked intellectual disability 34,DOID:0060817,,OMIM ID:300967 +BMGC_DS21529,BMG_DS080171,,,,,,,,,,,immunodeficiency 50,DOID:0112001,,OMIM ID:300988 +BMGC_DS21530,BMG_DS080172,,,,,,,,,,,non-syndromic X-linked intellectual disability 106,DOID:0080240,,OMIM ID:300997 +BMGC_DS21531,BMG_DS080173,,,,,,,,,,,syndromic X-linked mental retardation Hough type,DOID:0080242,,OMIM ID:301008 +BMGC_DS21532,BMG_DS080174,,,,,,,,,,,non-syndromic X-linked intellectual disability 107,DOID:0112054,,OMIM ID:301013 +BMGC_DS21533,BMG_DS080175,,,,,,,,,,,osteogenesis imperfecta type 19,DOID:0111847,,OMIM ID:301014 +BMGC_DS21534,BMG_DS080176,,,,,,,,,,,Van Esch-O'Driscoll syndrome,DOID:0111840,,OMIM ID:301030 +BMGC_DS21535,BMG_DS080177,,,,,,,,,,,X-linked warfarin sensitivity,DOID:0080839,,OMIM ID:301052 +BMGC_DS21536,BMG_DS080178,,,,,,,,,,,VEXAS syndrome,DOID:0080828,,OMIM ID:301054 +BMGC_DS21537,BMG_DS080179,,,,,,,,,,,syndromic X-linked intellectual disability Pilorge type,DOID:0070422,,OMIM ID:301076 +BMGC_DS21538,BMG_DS080180,,,,,,,,,,,congenital nonspherocytic hemolytic anemia 9,DOID:0051008,,OMIM ID:301083 +BMGC_DS21539,BMG_DS080181,,,,,,,,,,,non-syndromic X-linked intellectual developmental disorder 111,DOID:0060929,,OMIM ID:301107 +BMGC_DS21540,BMG_DS080182,,,,,,,,,,,neural tube defect,DOID:0080074,,OMIM ID:301410 | OMIM ID:601634 +BMGC_DS21541,BMG_DS080183,,,,,,,,,,,X-linked chondrodysplasia punctata 2,DOID:0080352,,OMIM ID:302960 +BMGC_DS21542,BMG_DS080184,,,,,,,,,,,X-linked cleft palate with or without ankyloglossia,DOID:0060613,,OMIM ID:303400 +BMGC_DS21543,BMG_DS080185,,,,,,,,,,,X-linked deafness 2,DOID:0111737,,OMIM ID:304400 +BMGC_DS21544,BMG_DS080186,,,,,,,,,,,X-linked deafness 1,DOID:0111739,,OMIM ID:304500 +BMGC_DS21545,BMG_DS080187,,,,,,,,,,,X-linked nephrogenic diabetes insipidus,DOID:0081060,,OMIM ID:304800 +BMGC_DS21546,BMG_DS080188,,,,,,,,,,,X-linked exudative vitreoretinopathy 2,DOID:0111413,,OMIM ID:305390 +BMGC_DS21547,BMG_DS080189,,,,,,,,,,,frontometaphyseal dysplasia 1,DOID:0111786,,OMIM ID:305620 +BMGC_DS21548,BMG_DS080190,,,,,,,,,,,X-linked spermatogenic failure 1,DOID:0070189,,OMIM ID:305700 +BMGC_DS21549,BMG_DS080191,,,,,,,,,,,X-linked chronic granulomatous disease,DOID:0070195,,OMIM ID:306400 +BMGC_DS21550,BMG_DS080192,,,,,,,,,,,visceral heterotaxy,DOID:0050545,,OMIM ID:306955 | OMIM ID:605376 | OMIM ID:606325 | OMIM ID:613751 | OMIM ID:614779 | OMIM ID:PS306955 +BMGC_DS21551,BMG_DS080193,,,,,,,,,,,X-linked hypoparathyroidism,DOID:0111388,,OMIM ID:307700 +BMGC_DS21552,BMG_DS080194,,,,,,,,,,,CD40 ligand deficiency,DOID:0060022,,OMIM ID:308230 +BMGC_DS21553,BMG_DS080195,,,,,,,,,,,X-linked keratosis follicularis spinulosa decalvans,DOID:0080754,,OMIM ID:308800 +BMGC_DS21554,BMG_DS080196,,,,,,,,,,,low molecular weight proteinuria with hypercalciuric nephrocalcinosis,DOID:0111815,,OMIM ID:308990 +BMGC_DS21555,BMG_DS080197,,,,,,,,,,,syndromic X-linked intellectual disorder Lujan-Fryns-type,DOID:0080985,,OMIM ID:309520 +BMGC_DS21556,BMG_DS080198,,,,,,,,,,,X-linked intellectual developmental disorder 109,DOID:0080984,,OMIM ID:309548 +BMGC_DS21557,BMG_DS080199,,,,,,,,,,,non-syndromic X-linked intellectual disability 9,DOID:0112034,,OMIM ID:309549 +BMGC_DS21558,BMG_DS080200,,,,,,,,,,,X-linked mental retardation Gustavson type,DOID:0081123,,OMIM ID:309555 +BMGC_DS21559,BMG_DS080201,,,,,,,,,,,Prieto syndrome,DOID:0060805,,OMIM ID:309610 +BMGC_DS21560,BMG_DS080202,,,,,,,,,,,X-linked Emery-Dreifuss muscular dystrophy 1,DOID:0070246,,OMIM ID:310300 +BMGC_DS21561,BMG_DS080203,,,,,,,,,,,X-linked myopathy with excessive autophagy,DOID:0050760,,OMIM ID:310440 +BMGC_DS21562,BMG_DS080204,,,,,,,,,,,X-linked nephrolithiasis type I,DOID:0111798,,OMIM ID:310468 +BMGC_DS21563,BMG_DS080205,,,,,,,,,,,hereditary sensory neuropathy X-linked,DOID:0070159,,OMIM ID:310470 +BMGC_DS21564,BMG_DS080206,,,,,,,,,,,congenital stationary night blindness 1A,DOID:0110870,,OMIM ID:310500 +BMGC_DS21565,BMG_DS080207,,,,,,,,,,,congenital nystagmus 1,DOID:0111790,,OMIM ID:310700 +BMGC_DS21566,BMG_DS080208,,,,,,,,,,,optic atrophy 2,DOID:0111443,,OMIM ID:311050 +BMGC_DS21567,BMG_DS080209,,,,,,,,,,,primary ovarian insufficiency 1,DOID:0080857,,OMIM ID:311360 +BMGC_DS21568,BMG_DS080210,,,,,,,,,,,Waisman syndrome,DOID:0111781,,OMIM ID:311510 +BMGC_DS21569,BMG_DS080211,,,,,,,,,,,X-linked panhypopituitarism,DOID:0111779,,OMIM ID:312000 +BMGC_DS21570,BMG_DS080212,,,,,,,,,,,partial androgen insensitivity syndrome,DOID:0080776,,OMIM ID:312300 +BMGC_DS21571,BMG_DS080213,,,,,,,,,,,X-linked spondyloepiphyseal dysplasia tarda,DOID:0080362,,OMIM ID:313400 +BMGC_DS21572,BMG_DS080214,,,,,,,,,,,Y-linked spermatogenic failure 1,DOID:0070186,,OMIM ID:400042 +BMGC_DS21573,BMG_DS080215,,,,,,,,,,,"46,XY sex reversal 1",DOID:0111778,,OMIM ID:400044 +BMGC_DS21574,BMG_DS080216,,,,,,,,,,,"46,XX sex reversal 1",DOID:0111761,,OMIM ID:400045 +BMGC_DS21575,BMG_DS080217,,,,,,,,,,,infantile histiocytoid cardiomyopathy,DOID:0080198,,OMIM ID:500000 +BMGC_DS21576,BMG_DS080218,,,,,,,,,,,Pearson syndrome,DOID:0060067,,OMIM ID:557000 +BMGC_DS21577,BMG_DS080219,,,,,,,,,,,pancreatic hypoplasia-diabetes-congenital heart disease syndrome,DOID:0111733,,OMIM ID:600001 +BMGC_DS21578,BMG_DS080220,,,,,,,,,,,familial chronic myelocytic leukemia-like syndrome,DOID:0060761,,OMIM ID:600080 +BMGC_DS21579,BMG_DS080221,,,,,,,,,,,vitamin D-dependent rickets type 1B,DOID:0080887,,OMIM ID:600081 +BMGC_DS21580,BMG_DS080222,,,,,,,,,,,nanophthalmos,DOID:0080634,,OMIM ID:600165 | OMIM ID:609549 | OMIM ID:611897 | OMIM ID:615972 | OMIM ID:PS600165 +BMGC_DS21581,BMG_DS080223,,,,,,,,,,,autosomal dominant distal hereditary motor neuronopathy 8,DOID:0111215,,OMIM ID:600175 +BMGC_DS21582,BMG_DS080224,,,,,,,,,,,multiple epiphyseal dysplasia 2,DOID:0070298,,OMIM ID:600204 +BMGC_DS21583,BMG_DS080225,,,,,,,,,,,spinocerebellar ataxia type 5,DOID:0050882,,OMIM ID:600224 +BMGC_DS21584,BMG_DS080226,,,,,,,,,,,oblique facial clefting 1,DOID:0111706,,OMIM ID:600251 +BMGC_DS21585,BMG_DS080227,,,,,,,,,,,CSF1R-related brain malformation and osteopetrosis,DOID:0070343,,OMIM ID:600329 +BMGC_DS21586,BMG_DS080228,,,,,,,,,,,Charcot-Marie-Tooth disease type 5,DOID:0080067,,OMIM ID:600361 +BMGC_DS21587,BMG_DS080229,,,,,,,,,,,maturity-onset diabetes of the young type 3,DOID:0111102,,OMIM ID:600496 +BMGC_DS21588,BMG_DS080230,,,,,,,,,,,schizophrenia 3,DOID:0070079,,OMIM ID:600511 +BMGC_DS21589,BMG_DS080231,,,,,,,,,,,familial temporal lobe epilepsy 1,DOID:0060748,,OMIM ID:600512 +BMGC_DS21590,BMG_DS080232,,,,,,,,,,,autosomal dominant nocturnal frontal lobe epilepsy 1,DOID:0060682,,OMIM ID:600513 +BMGC_DS21591,BMG_DS080233,,,,,,,,,,,vitamin D-dependent rickets type 2B,DOID:0080885,,OMIM ID:600785 +BMGC_DS21592,BMG_DS080234,,,,,,,,,,,janus kinase-3 deficiency,DOID:0060008,,OMIM ID:600802 +BMGC_DS21593,BMG_DS080235,,,,,,,,,,,hypertrophic cardiomyopathy 6,DOID:0110312,,OMIM ID:600858 +BMGC_DS21594,BMG_DS080236,,,,,,,,,,,achondrogenesis type IB,DOID:0080055,,OMIM ID:600972 +BMGC_DS21595,BMG_DS080237,,,,,,,,,,,Mayer-Rokitansky-Kuster-Hauser syndrome type 2,DOID:0112179,,OMIM ID:601076 +BMGC_DS21596,BMG_DS080238,,,,,,,,,,,Charcot-Marie-Tooth disease type 6,DOID:0080068,,OMIM ID:601152 | OMIM ID:616505 +BMGC_DS21597,BMG_DS080239,,,,,,,,,,,DICER1 syndrome,DOID:0081063,,OMIM ID:601200 +BMGC_DS21598,BMG_DS080240,,,,,,,,,,,neuronal intestinal dysplasia type B,DOID:0080680,,OMIM ID:601223 +BMGC_DS21599,BMG_DS080241,,,,,,,,,,,diffuse cystic renal dysplasia,DOID:0111682,,OMIM ID:601331 +BMGC_DS21600,BMG_DS080242,,,,,,,,,,,Nicolaides-Baraitser syndrome,DOID:0081441,,OMIM ID:601358 +BMGC_DS21601,BMG_DS080243,,,,,,,,,,,psoriasis 3,DOID:0111283,,OMIM ID:601454 +BMGC_DS21602,BMG_DS080244,,,,,,,,,,,mucopolysaccharidosis IX,DOID:0050809,,OMIM ID:601492 +BMGC_DS21603,BMG_DS080245,,,,,,,,,,,Athabaskan brainstem dysgenesis syndrome,DOID:0050682,,OMIM ID:601536 +BMGC_DS21604,BMG_DS080246,,,,,,,,,,,peroxisome biogenesis disorder 1B,DOID:0081240,,OMIM ID:601539 +BMGC_DS21605,BMG_DS080247,,,,,,,,,,,photosensitive trichothiodystrophy 1,DOID:0111873,,OMIM ID:601675 +BMGC_DS21606,BMG_DS080248,,,,,,,,,,,benign familial infantile seizures 1,DOID:0081114,,OMIM ID:601764 +BMGC_DS21607,BMG_DS080249,,,,,,,,,,,Ehlers-Danlos syndrome musculocontractural type 1,DOID:0080736,,OMIM ID:601776 +BMGC_DS21608,BMG_DS080250,,,,,,,,,,,cone-rod dystrophy 6,DOID:0111011,,OMIM ID:601777 +BMGC_DS21609,BMG_DS080251,,,,,,,,,,,familial hyperinsulinemic hypoglycemia 2,DOID:0070218,,OMIM ID:601820 +BMGC_DS21610,BMG_DS080252,,,,,,,,,,,ectodermal dysplasia 4,DOID:0111658,,OMIM ID:602032 +BMGC_DS21611,BMG_DS080253,,,,,,,,,,,speech-language disorder-1,DOID:0111275,,OMIM ID:602081 +BMGC_DS21612,BMG_DS080254,,,,,,,,,,,amyotrophic lateral sclerosis type 5,DOID:0060197,,OMIM ID:602099 +BMGC_DS21613,BMG_DS080255,,,,,,,,,,,Pierpont syndrome,DOID:0081362,,OMIM ID:602342 +BMGC_DS21614,BMG_DS080256,,,,,,,,,,,Parkinson's disease 3,DOID:0111250,,OMIM ID:602404 +BMGC_DS21615,BMG_DS080257,,,,,,,,,,,familial hyperinsulinemic hypoglycemia 3,DOID:0070216,,OMIM ID:602485 +BMGC_DS21616,BMG_DS080258,,,,,,,,,,,congenital disorder of glycosylation Ib,DOID:0080554,,OMIM ID:602579 +BMGC_DS21617,BMG_DS080259,,,,,,,,,,,"spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",DOID:0112294,,OMIM ID:602611 +BMGC_DS21618,BMG_DS080260,,,,,,,,,,,histiocytosis-lymphadenopathy plus syndrome,DOID:0111278,,OMIM ID:602782 +BMGC_DS21619,BMG_DS080261,,,,,,,,,,,congenital myasthenic syndrome 5,DOID:0110667,,OMIM ID:603034 +BMGC_DS21620,BMG_DS080262,,,,,,,,,,,age related macular degeneration 1,DOID:0110014,,OMIM ID:603075 +BMGC_DS21621,BMG_DS080263,,,,,,,,,,,congenital disorder of glycosylation Ic,DOID:0080555,,OMIM ID:603147 +BMGC_DS21622,BMG_DS080264,,,,,,,,,,,schizophrenia 5,DOID:0070081,,OMIM ID:603175 +BMGC_DS21623,BMG_DS080265,,,,,,,,,,,schizophrenia 7,DOID:0070083,,OMIM ID:603176 +BMGC_DS21624,BMG_DS080266,,,,,,,,,,,autosomal dominant nocturnal frontal lobe epilepsy 2,DOID:0060683,,OMIM ID:603204 +BMGC_DS21625,BMG_DS080267,,,,,,,,,,,schizophrenia 8,DOID:0070084,,OMIM ID:603206 +BMGC_DS21626,BMG_DS080268,,,,,,,,,,,familial gestational hyperthyroidism,DOID:0081102,,OMIM ID:603373 +BMGC_DS21627,BMG_DS080269,,,,,,,,,,,adult-onset type II citrullinemia,DOID:0070342,,OMIM ID:603471 +BMGC_DS21628,BMG_DS080270,,,,,,,,,,,neuronal intranuclear inclusion disease,DOID:0081294,,OMIM ID:603472 +BMGC_DS21629,BMG_DS080271,,,,,,,,,,,spinocerebellar ataxia type 10,DOID:0050960,,OMIM ID:603516 +BMGC_DS21630,BMG_DS080272,,,,,,,,,,,congenital chylothorax,DOID:0060646,,OMIM ID:603523 +BMGC_DS21631,BMG_DS080273,,,,,,,,,,,spondyloepimetaphyseal dysplasia with joint laxity type 2,DOID:0112199,,OMIM ID:603546 +BMGC_DS21632,BMG_DS080274,,,,,,,,,,,familial hemophagocytic lymphohistiocytosis 4,DOID:0110924,,OMIM ID:603552 +BMGC_DS21633,BMG_DS080275,,,,,,,,,,,myofibrillar myopathy 9,DOID:0111188,,OMIM ID:603689 +BMGC_DS21634,BMG_DS080276,,,,,,,,,,,autosomal dominant beta thalassemia,DOID:0080770,,OMIM ID:603902 +BMGC_DS21635,BMG_DS080277,,,,,,,,,,,sickle cell disease,DOID:0081445,,OMIM ID:603903 +BMGC_DS21636,BMG_DS080278,,,,,,,,,,,psoriasis 4,DOID:0111280,,OMIM ID:603935 +BMGC_DS21637,BMG_DS080279,,,,,,,,,,,keratosis pilaris atrophicans,DOID:0080751,,OMIM ID:604093 +BMGC_DS21638,BMG_DS080280,,,,,,,,,,,left ventricular noncompaction,DOID:0060480,,OMIM ID:604169 +BMGC_DS21639,BMG_DS080281,,,,,,,,,,,aceruloplasminemia,DOID:0050711,,OMIM ID:604290 +BMGC_DS21640,BMG_DS080282,,,,,,,,,,,psoriasis 5,DOID:0111282,,OMIM ID:604316 +BMGC_DS21641,BMG_DS080283,,,,,,,,,,,spinocerebellar ataxia type 12,DOID:0050962,,OMIM ID:604326 +BMGC_DS21642,BMG_DS080284,,,,,,,,,,,familial febrile seizures 4,DOID:0111305,,OMIM ID:604352 +BMGC_DS21643,BMG_DS080285,,,,,,,,,,,ataxia-telangiectasia-like disorder-1,DOID:0081384,,OMIM ID:604391 +BMGC_DS21644,BMG_DS080286,,,,,,,,,,,PAPA syndrome,DOID:0080519,,OMIM ID:604416 +BMGC_DS21645,BMG_DS080287,,,,,,,,,,,infundibulocystic basal cell carcinoma,DOID:4279,,OMIM ID:604451 +BMGC_DS21646,BMG_DS080288,,,,,,,,,,,MHC class I deficiency,DOID:0060009,,OMIM ID:604571 +BMGC_DS21647,BMG_DS080289,,,,,,,,,,,craniosynostosis 2,DOID:0061009,,OMIM ID:604757 +BMGC_DS21648,BMG_DS080290,,,,,,,,,,,primary autosomal recessive microcephaly 3,DOID:0070286,,OMIM ID:604804 +BMGC_DS21649,BMG_DS080291,,,,,,,,,,,Stickler syndrome 2,DOID:0080675,,OMIM ID:604841 +BMGC_DS21650,BMG_DS080292,,,,,,,,,,,schizophrenia 9,DOID:0070085,,OMIM ID:604906 +BMGC_DS21651,BMG_DS080293,,,,,,,,,,,familial hypobetalipoproteinemia 2,DOID:0111061,,OMIM ID:605019 +BMGC_DS21652,BMG_DS080294,,,,,,,,,,,spinocerebellar ataxia type 13,DOID:0050963,,OMIM ID:605259 +BMGC_DS21653,BMG_DS080295,,,,,,,,,,,spinocerebellar ataxia type 14,DOID:0050964,,OMIM ID:605361 +BMGC_DS21654,BMG_DS080296,,,,,,,,,,,dilated cardiomyopathy 1J,DOID:0110440,,OMIM ID:605362 +BMGC_DS21655,BMG_DS080297,,,,,,,,,,,psoriasis 6,DOID:0111290,,OMIM ID:605364 +BMGC_DS21656,BMG_DS080298,,,,,,,,,,,autosomal dominant nocturnal frontal lobe epilepsy 3,DOID:0060684,,OMIM ID:605375 +BMGC_DS21657,BMG_DS080299,,,,,,,,,,,ataxic cerebral palsy,DOID:0050670,,OMIM ID:605388 +BMGC_DS21658,BMG_DS080300,,,,,,,,,,,schizophrenia 10,DOID:0070086,,OMIM ID:605419 +BMGC_DS21659,BMG_DS080301,,,,,,,,,,,psoriasis 7,DOID:0111279,,OMIM ID:605606 +BMGC_DS21660,BMG_DS080302,,,,,,,,,,,congenital myopathy 6,DOID:0080719,,OMIM ID:605637 +BMGC_DS21661,BMG_DS080303,,,,,,,,,,,multiple mitochondrial dysfunctions syndrome 1,DOID:0080133,,OMIM ID:605711 +BMGC_DS21662,BMG_DS080304,,,,,,,,,,,platelet-type bleeding disorder 12,DOID:0111058,,OMIM ID:605735 +BMGC_DS21663,BMG_DS080305,,,,,,,,,,,atopic dermatitis 2,DOID:0110098,,OMIM ID:605803 +BMGC_DS21664,BMG_DS080306,,,,,,,,,,,atopic dermatitis 3,DOID:0110099,,OMIM ID:605804 +BMGC_DS21665,BMG_DS080307,,,,,,,,,,,atopic dermatitis 5,DOID:0110101,,OMIM ID:605844 +BMGC_DS21666,BMG_DS080308,,,,,,,,,,,atopic dermatitis 6,DOID:0110102,,OMIM ID:605845 +BMGC_DS21667,BMG_DS080309,,,,,,,,,,,dimethylglycine dehydrogenase deficiency,DOID:0081446,,OMIM ID:605850 +BMGC_DS21668,BMG_DS080310,,,,,,,,,,,glycine encephalopathy 1,DOID:0070616,,OMIM ID:605899 +BMGC_DS21669,BMG_DS080311,,,,,,,,,,,Parkinson's disease 6,DOID:0060369,,OMIM ID:605909 +BMGC_DS21670,BMG_DS080312,,,,,,,,,,,HMG-CoA synthase 2 deficiency,DOID:0081168,,OMIM ID:605911 +BMGC_DS21671,BMG_DS080313,,,,,,,,,,,spinocerebellar ataxia with axonal neuropathy 2,DOID:0050755,,OMIM ID:606002 +BMGC_DS21672,BMG_DS080314,,,,,,,,,,,Phelan-McDermid syndrome,DOID:0080354,,OMIM ID:606232 +BMGC_DS21673,BMG_DS080315,,,,,,,,,,,maturity-onset diabetes of the young type 6,DOID:0111104,,OMIM ID:606394 +BMGC_DS21674,BMG_DS080316,,,,,,,,,,,Ehlers-Danlos syndrome classic-like 1,DOID:0080731,,OMIM ID:606408 +BMGC_DS21675,BMG_DS080317,,,,,,,,,,,episodic ataxia type 3,DOID:0050991,,OMIM ID:606554 +BMGC_DS21676,BMG_DS080318,,,,,,,,,,,oculocutaneous albinism type IV,DOID:0070098,,OMIM ID:606574 +BMGC_DS21677,BMG_DS080319,,,,,,,,,,,DNA ligase IV deficiency,DOID:0060021,,OMIM ID:606593 +BMGC_DS21678,BMG_DS080320,,,,,,,,,,,amyotrophic lateral sclerosis type 3,DOID:0060195,,OMIM ID:606640 +BMGC_DS21679,BMG_DS080321,,,,,,,,,,,Waardenburg syndrome type 2C,DOID:0110951,,OMIM ID:606662 +BMGC_DS21680,BMG_DS080322,,,,,,,,,,,specific language impairment,DOID:0060244,,OMIM ID:606711 | OMIM ID:606712 | OMIM ID:607134 | OMIM ID:612514 | OMIM ID:615432 +BMGC_DS21681,BMG_DS080323,,,,,,,,,,,familial hyperinsulinemic hypoglycemia 6,DOID:0070217,,OMIM ID:606762 +BMGC_DS21682,BMG_DS080325,,,,,,,,,,,brachydactyly type A1B,DOID:0110974,,OMIM ID:607004 +BMGC_DS21683,BMG_DS080326,,,,,,,,,,,congenital disorder of glycosylation Ig,DOID:0080559,,OMIM ID:607143 +BMGC_DS21684,BMG_DS080327,,,,,,,,,,,Dravet syndrome,DOID:0080422,,OMIM ID:607208 +BMGC_DS21685,BMG_DS080328,,,,,,,,,,,spinocerebellar ataxia type 19/22,DOID:0050970,,OMIM ID:607346 +BMGC_DS21686,BMG_DS080329,,,,,,,,,,,autosomal recessive intellectual developmental disorder 2,DOID:0081178,,OMIM ID:607417 +BMGC_DS21687,BMG_DS080330,,,,,,,,,,,lissencephaly 1,DOID:0112237,,OMIM ID:607432 +BMGC_DS21688,BMG_DS080331,,,,,,,,,,,Newfoundland cone-rod dystrophy,DOID:0111015,,OMIM ID:607476 +BMGC_DS21689,BMG_DS080332,,,,,,,,,,,familial atrial fibrillation,DOID:0050650,,OMIM ID:607554 | OMIM ID:608583 | OMIM ID:608988 | OMIM ID:611493 | OMIM ID:611494 | OMIM ID:612201 | OMIM ID:612240 | OMIM ID:613055 | OMIM ID:613980 | OMIM ID:614022 | OMIM ID:614049 | OMIM ID:614050 | OMIM ID:615377 | OMIM ID:615378 | OMIM ID:615770 | OMIM ID:PS608583 +BMGC_DS21690,BMG_DS080333,,,,,,,,,,,pontocerebellar hypoplasia type 1A,DOID:0060265,,OMIM ID:607596 +BMGC_DS21691,BMG_DS080334,,,,,,,,,,,idiopathic generalized epilepsy 11,DOID:0111312,,OMIM ID:607628 +BMGC_DS21692,BMG_DS080335,,,,,,,,,,,juvenile absence epilepsy 1,DOID:0111324,,OMIM ID:607631 +BMGC_DS21693,BMG_DS080336,,,,,,,,,,,autosomal dominant distal hereditary motor neuronopathy 14,DOID:0111202,,OMIM ID:607641 +BMGC_DS21694,BMG_DS080337,,,,,,,,,,,idiopathic generalized epilepsy 9,DOID:0111323,,OMIM ID:607682 +BMGC_DS21695,BMG_DS080338,,,,,,,,,,,Alzheimer's disease 3,DOID:0110042,,OMIM ID:607822 +BMGC_DS21696,BMG_DS080339,,,,,,,,,,,focal segmental glomerulosclerosis 3,DOID:0112245,,OMIM ID:607832 +BMGC_DS21697,BMG_DS080340,,,,,,,,,,,psoriasis 9,DOID:0111284,,OMIM ID:607857 +BMGC_DS21698,BMG_DS080341,,,,,,,,,,,familial adult myoclonic epilepsy 2,DOID:0111692,,OMIM ID:607876 +BMGC_DS21699,BMG_DS080342,,,,,,,,,,,amyotrophic lateral sclerosis type 6,DOID:0060198,,OMIM ID:608030 +BMGC_DS21700,BMG_DS080343,,,,,,,,,,,amyotrophic lateral sclerosis type 7,DOID:0060199,,OMIM ID:608031 +BMGC_DS21701,BMG_DS080344,,,,,,,,,,,congenital disorder of glycosylation Ij,DOID:0080562,,OMIM ID:608093 +BMGC_DS21702,BMG_DS080345,,,,,,,,,,,congenital disorder of glycosylation Ih,DOID:0080560,,OMIM ID:608104 +BMGC_DS21703,BMG_DS080346,,,,,,,,,,,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,DOID:0111645,,OMIM ID:608105 +BMGC_DS21704,BMG_DS080347,,,,,,,,,,,Kagami-Ogata syndrome,DOID:0111712,,OMIM ID:608149 +BMGC_DS21705,BMG_DS080348,,,,,,,,,,,congenital nystagmus 3,DOID:0111793,,OMIM ID:608345 +BMGC_DS21706,BMG_DS080349,,,,,,,,,,,autosomal dominant hyaline body myopathy,DOID:0111269,,OMIM ID:608358 +BMGC_DS21707,BMG_DS080350,,,,,,,,,,,primary autosomal recessive microcephaly 6,DOID:0070290,,OMIM ID:608393 +BMGC_DS21708,BMG_DS080351,,,,,,,,,,,platelet-type bleeding disorder 10,DOID:0111046,,OMIM ID:608404 +BMGC_DS21709,BMG_DS080352,,,,,,,,,,,bradyopsia 1,DOID:0070363,,OMIM ID:608415 +BMGC_DS21710,BMG_DS080353,,,,,,,,,,,autosomal recessive intellectual developmental disorder 3,DOID:0081179,,OMIM ID:608443 +BMGC_DS21711,BMG_DS080354,,,,,,,,,,,congenital disorder of glycosylation Ik,DOID:0080563,,OMIM ID:608540 +BMGC_DS21712,BMG_DS080355,,,,,,,,,,,intracranial berry aneurysm 2,DOID:0080965,,OMIM ID:608542 +BMGC_DS21713,BMG_DS080356,,,,,,,,,,,amyotrophic lateral sclerosis type 8,DOID:0050752,,OMIM ID:608627 +BMGC_DS21714,BMG_DS080357,,,,,,,,,,,autosomal dominant distal hereditary motor neuronopathy 3,DOID:0111207,,OMIM ID:608634 +BMGC_DS21715,BMG_DS080358,,,,,,,,,,,spondylocostal dysostosis 2,DOID:0112362,,OMIM ID:608681 +BMGC_DS21716,BMG_DS080359,,,,,,,,,,,primary autosomal recessive microcephaly 5,DOID:0070280,,OMIM ID:608716 +BMGC_DS21717,BMG_DS080360,,,,,,,,,,,idiopathic generalized epilepsy 3,DOID:0111318,,OMIM ID:608762 +BMGC_DS21718,BMG_DS080361,,,,,,,,,,,congenital disorder of glycosylation Il,DOID:0080564,,OMIM ID:608776 +BMGC_DS21719,BMG_DS080362,,,,,,,,,,,myofibrillar myopathy 2,DOID:0080093,,OMIM ID:608810 +BMGC_DS21720,BMG_DS080363,,,,,,,,,,,orofacial cleft 6,DOID:0080593,,OMIM ID:608864 +BMGC_DS21721,BMG_DS080364,,,,,,,,,,,Alzheimer's disease 9,DOID:0111364,,OMIM ID:608907 +BMGC_DS21722,BMG_DS080365,,,,,,,,,,,congenital myasthenic syndrome 4C,DOID:0110679,,OMIM ID:608931 +BMGC_DS21723,BMG_DS080366,,,,,,,,,,,patterned macular dystrophy 2,DOID:0060864,,OMIM ID:608970 +BMGC_DS21724,BMG_DS080367,,,,,,,,,,,autosomal dominant sensory ataxia 1,DOID:0111170,,OMIM ID:608984 +BMGC_DS21725,BMG_DS080368,,,,,,,,,,,primary ovarian insufficiency 3,DOID:0080860,,OMIM ID:608996 +BMGC_DS21726,BMG_DS080369,,,,,,,,,,,cataract 28,DOID:0110244,,OMIM ID:609026 +BMGC_DS21727,BMG_DS080370,,,,,,,,,,,salt and pepper syndrome,DOID:0060470,,OMIM ID:609056 +BMGC_DS21728,BMG_DS080371,,,,,,,,,,,nonautoimmune hyperthyroidism,DOID:0081101,,OMIM ID:609152 +BMGC_DS21729,BMG_DS080372,,,,,,,,,,,Loeys-Dietz syndrome 1,DOID:0070235,,OMIM ID:609192 +BMGC_DS21730,BMG_DS080373,,,,,,,,,,,autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type,DOID:0112291,,OMIM ID:609223 +BMGC_DS21731,BMG_DS080374,,,,,,,,,,,Schindler disease type 1,DOID:0112318,,OMIM ID:609241 +BMGC_DS21732,BMG_DS080375,,,,,,,,,,,Kanzaki disease,DOID:0112319,,OMIM ID:609242 +BMGC_DS21733,BMG_DS080376,,,,,,,,,,,familial febrile seizures 6,DOID:0111309,,OMIM ID:609253 +BMGC_DS21734,BMG_DS080377,,,,,,,,,,,familial febrile seizures 5,DOID:0111306,,OMIM ID:609255 +BMGC_DS21735,BMG_DS080378,,,,,,,,,,,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2,DOID:0111517,,OMIM ID:609283 +BMGC_DS21736,BMG_DS080379,,,,,,,,,,,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,DOID:0111520,,OMIM ID:609286 +BMGC_DS21737,BMG_DS080380,,,,,,,,,,,developmental and epileptic encephalopathy 3,DOID:0080440,,OMIM ID:609304 +BMGC_DS21738,BMG_DS080381,,,,,,,,,,,hereditary nonpolyposis colorectal cancer type 2,DOID:0070274,,OMIM ID:609310 +BMGC_DS21739,BMG_DS080382,,,,,,,,,,,MEDNIK syndrome,DOID:0060483,,OMIM ID:609313 +BMGC_DS21740,BMG_DS080383,,,,,,,,,,,rhabdoid tumor predisposition syndrome 1,DOID:0070618,,OMIM ID:609322 +BMGC_DS21741,BMG_DS080384,,,,,,,,,,,congenital fibrosis of the extraocular muscles 3C,DOID:0081019,,OMIM ID:609384 +BMGC_DS21742,BMG_DS080385,,,,,,,,,,,myofibrillar myopathy 5,DOID:0080096,,OMIM ID:609524 +BMGC_DS21743,BMG_DS080386,,,,,,,,,,,restrictive cardiomyopathy 2,DOID:0111426,,OMIM ID:609578 +BMGC_DS21744,BMG_DS080387,,,,,,,,,,,short QT syndrome,DOID:0050793,,OMIM ID:609620 | OMIM ID:609621 | OMIM ID:609622 +BMGC_DS21745,BMG_DS080388,,,,,,,,,,,autosomal dominant familial visceral neuropathy,DOID:0080682,,OMIM ID:609629 +BMGC_DS21746,BMG_DS080389,,,,,,,,,,,familial hemiplegic migraine 3,DOID:0111183,,OMIM ID:609634 +BMGC_DS21747,BMG_DS080391,,,,,,,,,,,generalized epilepsy with febrile seizures plus 4,DOID:0111293,,OMIM ID:609800 +BMGC_DS21748,BMG_DS080392,,,,,,,,,,,spondylocostal dysostosis 3,DOID:0112361,,OMIM ID:609813 +BMGC_DS21749,BMG_DS080393,,,,,,,,,,,familial erythrocytosis 3,DOID:0080338,,OMIM ID:609820 +BMGC_DS21750,BMG_DS080394,,,,,,,,,,,familial hyperinsulinemic hypoglycemia 5,DOID:0070220,,OMIM ID:609968 +BMGC_DS21751,BMG_DS080395,,,,,,,,,,,familial hyperinsulinemic hypoglycemia 4,DOID:0070215,,OMIM ID:609975 +BMGC_DS21752,BMG_DS080396,,,,,,,,,,,congenital glutamine deficiency,DOID:0070544,,OMIM ID:610015 +BMGC_DS21753,BMG_DS080397,,,,,,,,,,,hereditary mixed polyposis syndrome 2,DOID:0111686,,OMIM ID:610069 +BMGC_DS21754,BMG_DS080398,,,,,,,,,,,distal myopathy 3,DOID:0111189,,OMIM ID:610099 +BMGC_DS21755,BMG_DS080399,,,,,,,,,,,giant axonal neuropathy 2,DOID:0090069,,OMIM ID:610100 +BMGC_DS21756,BMG_DS080400,,,,,,,,,,,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4,DOID:0111525,,OMIM ID:610131 +BMGC_DS21757,BMG_DS080401,,,,,,,,,,,age related macular degeneration 7,DOID:0110019,,OMIM ID:610149 +BMGC_DS21758,BMG_DS080402,,,,,,,,,,,Loeys-Dietz syndrome 2,DOID:0070234,,OMIM ID:610168 +BMGC_DS21759,BMG_DS080403,,,,,,,,,,,3-methylglutaconic aciduria type 5,DOID:0110000,,OMIM ID:610198 +BMGC_DS21760,BMG_DS080404,,,,,,,,,,,neonatal diabetes mellitus with congenital hypothyroidism,DOID:0060638,,OMIM ID:610199 +BMGC_DS21761,BMG_DS080405,,,,,,,,,,,intracranial berry aneurysm 4,DOID:0080967,,OMIM ID:610213 +BMGC_DS21762,BMG_DS080406,,,,,,,,,,,hereditary spastic paraplegia 33,DOID:0110784,,OMIM ID:610244 +BMGC_DS21763,BMG_DS080407,,,,,,,,,,,anterior segment dysgenesis 2,DOID:0080607,,OMIM ID:610256 +BMGC_DS21764,BMG_DS080408,,,,,,,,,,,cold-induced sweating syndrome 2,DOID:0080330,,OMIM ID:610313 +BMGC_DS21765,BMG_DS080409,,,,,,,,,,,Koolen de Vries syndrome,DOID:0050880,,OMIM ID:610443 +BMGC_DS21766,BMG_DS080410,,,,,,,,,,,congenital stationary night blindness autosomal dominant 3,DOID:0110715,,OMIM ID:610444 +BMGC_DS21767,BMG_DS080411,,,,,,,,,,,congenital stationary night blindness autosomal dominant 1,DOID:0110862,,OMIM ID:610445 +BMGC_DS21768,BMG_DS080412,,,,,,,,,,,normophosphatemic familial tumoral calcinosis,DOID:0080170,,OMIM ID:610455 +BMGC_DS21769,BMG_DS080413,,,,,,,,,,,poor metabolism of thiopurines 1,DOID:0061004,,OMIM ID:610460 +BMGC_DS21770,BMG_DS080414,,,,,,,,,,,maturity-onset diabetes of the young type 7,DOID:0111106,,OMIM ID:610508 +BMGC_DS21771,BMG_DS080415,,,,,,,,,,,"mandibulofacial dysostosis, Guion-Almeida type",DOID:0080196,,OMIM ID:610536 +BMGC_DS21772,BMG_DS080416,,,,,,,,,,,age related macular degeneration 4,DOID:0110017,,OMIM ID:610698 +BMGC_DS21773,BMG_DS080417,,,,,,,,,,,psoriasis 8,DOID:0111288,,OMIM ID:610707 +BMGC_DS21774,BMG_DS080418,,,,,,,,,,,severe congenital neutropenia 3,DOID:0112133,,OMIM ID:610738 +BMGC_DS21775,BMG_DS080419,,,,,,,,,,,Cornelia de Lange syndrome 3,DOID:0080507,,OMIM ID:610759 +BMGC_DS21776,BMG_DS080420,,,,,,,,,,,congenital disorder of glycosylation Im,DOID:0080565,,OMIM ID:610768 +BMGC_DS21777,BMG_DS080421,,,,,,,,,,,CAKUT1,DOID:0080206,,OMIM ID:610805 +BMGC_DS21778,BMG_DS080422,,,,,,,,,,,branchiootorenal syndrome 2,DOID:0111424,,OMIM ID:610896 +BMGC_DS21779,BMG_DS080423,,,,,,,,,,,PSAT deficiency,DOID:0050723,,OMIM ID:610992 +BMGC_DS21780,BMG_DS080424,,,,,,,,,,,autosomal recessive intellectual developmental disorder 12,DOID:0081180,,OMIM ID:611090 +BMGC_DS21781,BMG_DS080425,,,,,,,,,,,autosomal recessive intellectual developmental disorder 5,DOID:0081181,,OMIM ID:611091 +BMGC_DS21782,BMG_DS080426,,,,,,,,,,,autosomal recessive intellectual developmental disorder 6,DOID:0081182,,OMIM ID:611092 +BMGC_DS21783,BMG_DS080427,,,,,,,,,,,autosomal recessive intellectual developmental disorder 7,DOID:0081183,,OMIM ID:611093 +BMGC_DS21784,BMG_DS080428,,,,,,,,,,,autosomal recessive intellectual developmental disorder 9/26,DOID:0081184,,OMIM ID:611095 +BMGC_DS21785,BMG_DS080429,,,,,,,,,,,autosomal recessive intellectual developmental disorder 10/20,DOID:0081185,,OMIM ID:611096 +BMGC_DS21786,BMG_DS080430,,,,,,,,,,,autosomal recessive intellectual developmental disorder 11,DOID:0081186,,OMIM ID:611097 +BMGC_DS21787,BMG_DS080431,,,,,,,,,,,autosomal recessive intellectual developmental disorder 4,DOID:0081187,,OMIM ID:611107 +BMGC_DS21788,BMG_DS080432,,,,,,,,,,,idiopathic generalized epilepsy 13,DOID:0111314,,OMIM ID:611136 +BMGC_DS21789,BMG_DS080433,,,,,,,,,,,syndromic microphthalmia 10,DOID:0111812,,OMIM ID:611222 +BMGC_DS21790,BMG_DS080434,,,,,,,,,,,spastic ataxia 2,DOID:0050941,,OMIM ID:611302 +BMGC_DS21791,BMG_DS080435,,,,,,,,,,,lethal congenital contracture syndrome 3,DOID:0060653,,OMIM ID:611369 +BMGC_DS21792,BMG_DS080436,,,,,,,,,,,age related macular degeneration 9,DOID:0110021,,OMIM ID:611378 +BMGC_DS21793,BMG_DS080437,,,,,,,,,,,spastic ataxia 3,DOID:0050942,,OMIM ID:611390 +BMGC_DS21794,BMG_DS080438,,,,,,,,,,,essential tremor 3,DOID:0111430,,OMIM ID:611456 +BMGC_DS21795,BMG_DS080439,,,,,,,,,,,age related macular degeneration 10,DOID:0110022,,OMIM ID:611488 +BMGC_DS21796,BMG_DS080440,,,,,,,,,,,autosomal recessive osteopetrosis 4,DOID:0110944,,OMIM ID:611490 +BMGC_DS21797,BMG_DS080441,,,,,,,,,,,autosomal recessive osteopetrosis 6,DOID:0110945,,OMIM ID:611497 +BMGC_DS21798,BMG_DS080442,,,,,,,,,,,familial febrile seizures 7,DOID:0111311,,OMIM ID:611515 +BMGC_DS21799,BMG_DS080443,,,,,,,,,,,primary ovarian insufficiency 5,DOID:0080862,,OMIM ID:611548 +BMGC_DS21800,BMG_DS080444,,,,,,,,,,,familial temporal lobe epilepsy 3,DOID:0060750,,OMIM ID:611630 +BMGC_DS21801,BMG_DS080445,,,,,,,,,,,familial temporal lobe epilepsy 4,DOID:0060753,,OMIM ID:611631 +BMGC_DS21802,BMG_DS080446,,,,,,,,,,,familial febrile seizures 9,DOID:0111303,,OMIM ID:611634 +BMGC_DS21803,BMG_DS080448,,,,,,,,,,,congenital myopathy 5,DOID:0081341,,OMIM ID:611705 +BMGC_DS21804,BMG_DS080449,,,,,,,,,,,familial erythrocytosis 4,DOID:0080339,,OMIM ID:611783 +BMGC_DS21805,BMG_DS080450,,,,,,,,,,,intracranial berry aneurysm 6,DOID:0080969,,OMIM ID:611892 +BMGC_DS21806,BMG_DS080451,,,,,,,,,,,amyotrophic lateral sclerosis type 9,DOID:0060200,,OMIM ID:611895 +BMGC_DS21807,BMG_DS080452,,,,,,,,,,,episodic ataxia type 7,DOID:0050995,,OMIM ID:611907 +BMGC_DS21808,BMG_DS080454,,,,,,,,,,,age related macular degeneration 11,DOID:0110023,,OMIM ID:611953 +BMGC_DS21809,BMG_DS080455,,,,,,,,,,,congenital disorder of glycosylation In,DOID:0080566,,OMIM ID:612015 +BMGC_DS21810,BMG_DS080456,,,,,,,,,,,otosclerosis 8,DOID:0060926,,OMIM ID:612096 +BMGC_DS21811,BMG_DS080457,,,,,,,,,,,hypertrophic cardiomyopathy 11,DOID:0110317,,OMIM ID:612098 +BMGC_DS21812,BMG_DS080458,,,,,,,,,,,ectodermal dysplasia and immunodeficiency 2,DOID:0081079,,OMIM ID:612132 +BMGC_DS21813,BMG_DS080459,,,,,,,,,,,intracranial berry aneurysm 7,DOID:0080970,,OMIM ID:612161 +BMGC_DS21814,BMG_DS080460,,,,,,,,,,,intracranial berry aneurysm 8,DOID:0080971,,OMIM ID:612162 +BMGC_DS21815,BMG_DS080461,,,,,,,,,,,developmental and epileptic encephalopathy 4,DOID:0080436,,OMIM ID:612164 +BMGC_DS21816,BMG_DS080462,,,,,,,,,,,maturity-onset diabetes of the young type 9,DOID:0111107,,OMIM ID:612225 +BMGC_DS21817,BMG_DS080463,,,,,,,,,,,Crouzon syndrome-acanthosis nigricans syndrome,DOID:0111161,,OMIM ID:612247 +BMGC_DS21818,BMG_DS080464,,,,,,,,,,,generalized epilepsy with febrile seizures plus 6,DOID:0111300,,OMIM ID:612279 +BMGC_DS21819,BMG_DS080465,,,,,,,,,,,primary ovarian insufficiency 6,DOID:0080863,,OMIM ID:612310 +BMGC_DS21820,BMG_DS080466,,,,,,,,,,,autosomal dominant intellectual developmental disorder 22,DOID:0070052,,OMIM ID:612337 +BMGC_DS21821,BMG_DS080467,,,,,,,,,,,Ehlers-Danlos syndrome spondylodysplastic type 3,DOID:0080739,,OMIM ID:612350 +BMGC_DS21822,BMG_DS080468,,,,,,,,,,,congenital disorder of glycosylation Iq,DOID:0080568,,OMIM ID:612379 +BMGC_DS21823,BMG_DS080469,,,,,,,,,,,psoriasis 10,DOID:0111289,,OMIM ID:612410 +BMGC_DS21824,BMG_DS080470,,,,,,,,,,,restrictive cardiomyopathy 3,DOID:0111427,,OMIM ID:612422 +BMGC_DS21825,BMG_DS080471,,,,,,,,,,,progressive myoclonus epilepsy 1B,DOID:0111448,,OMIM ID:612437 +BMGC_DS21826,BMG_DS080472,,,,,,,,,,,pseudohypoparathyroidism type 1C,DOID:0051013,,OMIM ID:612462 +BMGC_DS21827,BMG_DS080473,,,,,,,,,,,Compton-North congenital myopathy,DOID:0080101,,OMIM ID:612540 +BMGC_DS21828,BMG_DS080474,,,,,,,,,,,severe congenital neutropenia 4,DOID:0112136,,OMIM ID:612541 +BMGC_DS21829,BMG_DS080475,,,,,,,,,,,autosomal dominant intellectual developmental disorder 3,DOID:0070033,,OMIM ID:612580 +BMGC_DS21830,BMG_DS080476,,,,,,,,,,,autosomal dominant intellectual developmental disorder 4,DOID:0070034,,OMIM ID:612581 +BMGC_DS21831,BMG_DS080477,,,,,,,,,,,intracranial berry aneurysm 9,DOID:0080972,,OMIM ID:612586 +BMGC_DS21832,BMG_DS080478,,,,,,,,,,,intracranial berry aneurysm 10,DOID:0080973,,OMIM ID:612587 +BMGC_DS21833,BMG_DS080479,,,,,,,,,,,psoriasis 11,DOID:0111285,,OMIM ID:612599 +BMGC_DS21834,BMG_DS080480,,,,,,,,,,,autosomal dominant intellectual developmental disorder 5,DOID:0070035,,OMIM ID:612621 +BMGC_DS21835,BMG_DS080481,,,,,,,,,,,benign familial infantile seizures 4,DOID:0081117,,OMIM ID:612627 +BMGC_DS21836,BMG_DS080482,,,,,,,,,,,congenital nonspherocytic hemolytic anemia 3,DOID:0051004,,OMIM ID:612631 +BMGC_DS21837,BMG_DS080483,,,,,,,,,,,familial febrile seizures 10,DOID:0111304,,OMIM ID:612637 +BMGC_DS21838,BMG_DS080484,,,,,,,,,,,hereditary spherocytosis type 4,DOID:0110919,,OMIM ID:612653 +BMGC_DS21839,BMG_DS080485,,,,,,,,,,,episodic ataxia type 6,DOID:0050994,,OMIM ID:612656 +BMGC_DS21840,BMG_DS080486,,,,,,,,,,,PHARC syndrome,DOID:0080181,,OMIM ID:612674 +BMGC_DS21841,BMG_DS080487,,,,,,,,,,,hereditary spherocytosis type 5,DOID:0110920,,OMIM ID:612690 +BMGC_DS21842,BMG_DS080488,,,,,,,,,,,primary autosomal recessive microcephaly 7,DOID:0070278,,OMIM ID:612703 +BMGC_DS21843,BMG_DS080489,,,,,,,,,,,AGAT deficiency,DOID:0050712,,OMIM ID:612718 +BMGC_DS21844,BMG_DS080490,,,,,,,,,,,leukocyte adhesion deficiency 3,DOID:0110912,,OMIM ID:612840 +BMGC_DS21845,BMG_DS080491,,,,,,,,,,,autosomal dominant keratosis follicularis spinulosa decalvans,DOID:0080755,,OMIM ID:612843 +BMGC_DS21846,BMG_DS080492,,,,,,,,,,,idiopathic generalized epilepsy 8,DOID:0111322,,OMIM ID:612899 +BMGC_DS21847,BMG_DS080493,,,,,,,,,,,spastic quadriplegic cerebral palsy 2,DOID:0081360,,OMIM ID:612900 +BMGC_DS21848,BMG_DS080494,,,,,,,,,,,hereditary spastic paraplegia 50,DOID:0110802,,OMIM ID:612936 +BMGC_DS21849,BMG_DS080495,,,,,,,,,,,psoriasis 12,DOID:0111291,,OMIM ID:612950 +BMGC_DS21850,BMG_DS080496,,,,,,,,,,,RNASET2-deficient cystic leukoencephalopathy,DOID:0081007,,OMIM ID:612951 +BMGC_DS21851,BMG_DS080497,,,,,,,,,,,myofibrillar myopathy 6,DOID:0080097,,OMIM ID:612954 +BMGC_DS21852,BMG_DS080498,,,,,,,,,,,multiple synostoses syndrome 3,DOID:0081319,,OMIM ID:612961 +BMGC_DS21853,BMG_DS080499,,,,,,,,,,,"46,XY sex reversal 3",DOID:0111772,,OMIM ID:612965 +BMGC_DS21854,BMG_DS080500,,,,,,,,,,,autosomal dominant Emery-Dreifuss muscular dystrophy 4,DOID:0070249,,OMIM ID:612998 +BMGC_DS21855,BMG_DS080501,,,,,,,,,,,primary biliary cholangitis 2,DOID:0070359,,OMIM ID:613007 +BMGC_DS21856,BMG_DS080502,,,,,,,,,,,primary biliary cholangitis 3,DOID:0070360,,OMIM ID:613008 +BMGC_DS21857,BMG_DS080503,,,,,,,,,,,combined or isolated pituitary hormone deficiency 1,DOID:0061019,,OMIM ID:613038 +BMGC_DS21858,BMG_DS080504,,,,,,,,,,,idiopathic generalized epilepsy 10,DOID:0111292,,OMIM ID:613060 +BMGC_DS21859,BMG_DS080505,,,,,,,,,,,atopic dermatitis 7,DOID:0110103,,OMIM ID:613064 +BMGC_DS21860,BMG_DS080506,,,,,,,,,,,cerebral folate receptor alpha deficiency,DOID:0050719,,OMIM ID:613068 +BMGC_DS21861,BMG_DS080507,,,,,,,,,,,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5,DOID:0111518,,OMIM ID:613077 +BMGC_DS21862,BMG_DS080508,,,,,,,,,,,primary congenital glaucoma,DOID:0050593,,OMIM ID:613085 | OMIM ID:613086 +BMGC_DS21863,BMG_DS080509,,,,,,,,,,,polycystic kidney disease 2,DOID:0110859,,OMIM ID:613095 +BMGC_DS21864,BMG_DS080510,,,,,,,,,,,familial hemophagocytic lymphohistiocytosis 5,DOID:0110925,,OMIM ID:613101 +BMGC_DS21865,BMG_DS080511,,,,,,,,,,,severe congenital neutropenia 2,DOID:0112131,,OMIM ID:613107 +BMGC_DS21866,BMG_DS080512,,,,,,,,,,,hereditary sensory and autonomic neuropathy type 2B,DOID:0070150,,OMIM ID:613115 +BMGC_DS21867,BMG_DS080513,,,,,,,,,,,congenital muscular dystrophy-dystroglycanopathy type A6,DOID:0111242,,OMIM ID:613154 +BMGC_DS21868,BMG_DS080514,,,,,,,,,,,GABA aminotransferase deficiency,DOID:0060174,,OMIM ID:613163 +BMGC_DS21869,BMG_DS080515,,,,,,,,,,,autosomal recessive intellectual developmental disorder 13,DOID:0081098,,OMIM ID:613192 +BMGC_DS21870,BMG_DS080516,,,,,,,,,,,ankylosing spondylitis 3,DOID:0080605,,OMIM ID:613238 +BMGC_DS21871,BMG_DS080517,,,,,,,,,,,hypertrophic cardiomyopathy 13,DOID:0110319,,OMIM ID:613243 +BMGC_DS21872,BMG_DS080518,,,,,,,,,,,hypertrophic cardiomyopathy 14,DOID:0110320,,OMIM ID:613251 +BMGC_DS21873,BMG_DS080519,,,,,,,,,,,Waardenburg syndrome type 4B,DOID:0110954,,OMIM ID:613265 +BMGC_DS21874,BMG_DS080520,,,,,,,,,,,Waardenburg syndrome type 4C,DOID:0110955,,OMIM ID:613266 +BMGC_DS21875,BMG_DS080521,,,,,,,,,,,hypermanganesemia with dystonia 1,DOID:0080536,,OMIM ID:613280 +BMGC_DS21876,BMG_DS080522,,,,,,,,,,,spondylometaphyseal dysplasia Megarbane-Dagher-Melike type,DOID:0112304,,OMIM ID:613320 +BMGC_DS21877,BMG_DS080523,,,,,,,,,,,rhabdoid tumor predisposition syndrome 2,DOID:0060997,,OMIM ID:613325 +BMGC_DS21878,BMG_DS080524,,,,,,,,,,,maturity-onset diabetes of the young type 10,DOID:0111108,,OMIM ID:613370 +BMGC_DS21879,BMG_DS080525,,,,,,,,,,,spinocerebellar ataxia type 30,DOID:0050979,,OMIM ID:613371 +BMGC_DS21880,BMG_DS080526,,,,,,,,,,,maturity-onset diabetes of the young type 11,DOID:0111109,,OMIM ID:613375 +BMGC_DS21881,BMG_DS080527,,,,,,,,,,,amyotrophic lateral sclerosis type 12,DOID:0060203,,OMIM ID:613435 +BMGC_DS21882,BMG_DS080528,,,,,,,,,,,congenital disorder of glycosylation type IIj,DOID:0070262,,OMIM ID:613489 +BMGC_DS21883,BMG_DS080529,,,,,,,,,,,common variable immunodeficiency 3,DOID:0081146,,OMIM ID:613493 +BMGC_DS21884,BMG_DS080530,,,,,,,,,,,cytochrome P450 oxidoreductase deficiency,DOID:0080925,,OMIM ID:613571 +BMGC_DS21885,BMG_DS080531,,,,,,,,,,,congenital disorder of glycosylation type IIi,DOID:0070261,,OMIM ID:613612 +BMGC_DS21886,BMG_DS080532,,,,,,,,,,,fetal encasement syndrome,DOID:0060647,,OMIM ID:613630 +BMGC_DS21887,BMG_DS080533,,,,,,,,,,,hereditary sensory and autonomic neuropathy type 1C,DOID:0070157,,OMIM ID:613640 +BMGC_DS21888,BMG_DS080534,,,,,,,,,,,intellectual disability-severe speech delay-mild dysmorphism syndrome,DOID:0111331,,OMIM ID:613670 +BMGC_DS21889,BMG_DS080535,,,,,,,,,,,age related macular degeneration 6,DOID:0110018,,OMIM ID:613757 +BMGC_DS21890,BMG_DS080536,,,,,,,,,,,fatal infantile hypertonic myofibrillar myopathy,DOID:0080309,,OMIM ID:613869 +BMGC_DS21891,BMG_DS080537,,,,,,,,,,,familial partial lipodystrophy type 4,DOID:0070205,,OMIM ID:613877 +BMGC_DS21892,BMG_DS080538,,,,,,,,,,,schizophrenia 15,DOID:0070091,,OMIM ID:613950 +BMGC_DS21893,BMG_DS080539,,,,,,,,,,,autosomal dominant intellectual developmental disorder 6,DOID:0070036,,OMIM ID:613970 +BMGC_DS21894,BMG_DS080540,,,,,,,,,,,autosomal recessive dyskeratosis congenita 3,DOID:0070019,,OMIM ID:613988 +BMGC_DS21895,BMG_DS080541,,,,,,,,,,,autosomal dominant dyskeratosis congenita 3,DOID:0070018,,OMIM ID:613990 +BMGC_DS21896,BMG_DS080542,,,,,,,,,,,Nestor-Guillermo progeria syndrome,DOID:0081334,,OMIM ID:614008 +BMGC_DS21897,BMG_DS080543,,,,,,,,,,,progressive myoclonus epilepsy 6,DOID:0111449,,OMIM ID:614018 +BMGC_DS21898,BMG_DS080544,,,,,,,,,,,autosomal recessive intellectual developmental disorder 14,DOID:0081188,,OMIM ID:614020 +BMGC_DS21899,BMG_DS080545,,,,,,,,,,,PSPH deficiency,DOID:0050724,,OMIM ID:614023 +BMGC_DS21900,BMG_DS080546,,,,,,,,,,,psoriasis 13,DOID:0111287,,OMIM ID:614070 +BMGC_DS21901,BMG_DS080547,,,,,,,,,,,chondrodysplasia with joint dislocations gPAPP type,DOID:0112224,,OMIM ID:614078 +BMGC_DS21902,BMG_DS080548,,,,,,,,,,,multiple congenital anomalies-hypotonia-seizures syndrome 1,DOID:0080138,,OMIM ID:614080 +BMGC_DS21903,BMG_DS080549,,,,,,,,,,,Fanconi anemia complementation group G,DOID:0111086,,OMIM ID:614082 +BMGC_DS21904,BMG_DS080550,,,,,,,,,,,combined oxidative phosphorylation deficiency 8,DOID:0111479,,OMIM ID:614096 +BMGC_DS21905,BMG_DS080551,,,,,,,,,,,autosomal dominant intellectual developmental disorder 7,DOID:0070037,,OMIM ID:614104 +BMGC_DS21906,BMG_DS080552,,,,,,,,,,,autosomal dominant intellectual developmental disorder 2,DOID:0070032,,OMIM ID:614113 +BMGC_DS21907,BMG_DS080553,,,,,,,,,,,mosaic variegated aneuploidy syndrome 2,DOID:0080142,,OMIM ID:614114 +BMGC_DS21908,BMG_DS080554,,,,,,,,,,,hydrolethalus syndrome 2,DOID:0111356,,OMIM ID:614120 +BMGC_DS21909,BMG_DS080555,,,,,,,,,,,spinocerebellar ataxia type 36,DOID:0050983,,OMIM ID:614153 +BMGC_DS21910,BMG_DS080556,,,,,,,,,,,platelet-type bleeding disorder 14,DOID:0111047,,OMIM ID:614158 +BMGC_DS21911,BMG_DS080557,,,,,,,,,,,autosomal recessive intellectual developmental disorder 16,DOID:0081189,,OMIM ID:614208 +BMGC_DS21912,BMG_DS080558,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 11,DOID:0080063,,OMIM ID:614229 +BMGC_DS21913,BMG_DS080559,,,,,,,,,,,autosomal recessive intellectual developmental disorder 18,DOID:0081190,,OMIM ID:614249 +BMGC_DS21914,BMG_DS080560,,,,,,,,,,,autosomal dominant intellectual developmental disorder 10,DOID:0070040,,OMIM ID:614256 +BMGC_DS21915,BMG_DS080561,,,,,,,,,,,"46,XY sex reversal 8",DOID:0111773,,OMIM ID:614279 +BMGC_DS21916,BMG_DS080562,,,,,,,,,,,juvenile myoclonic epilepsy 9,DOID:0111328,,OMIM ID:614280 +BMGC_DS21917,BMG_DS080563,,,,,,,,,,,autosomal dominant Wolfram syndrome,DOID:0080584,,OMIM ID:614296 +BMGC_DS21918,BMG_DS080564,,,,,,,,,,,multiple mitochondrial dysfunctions syndrome 2,DOID:0080134,,OMIM ID:614299 +BMGC_DS21919,BMG_DS080565,,,,,,,,,,,autosomal recessive intellectual developmental disorder 31,DOID:0081191,,OMIM ID:614329 +BMGC_DS21920,BMG_DS080566,,,,,,,,,,,hereditary nonpolyposis colorectal cancer type 6,DOID:0070273,,OMIM ID:614331 +BMGC_DS21921,BMG_DS080567,,,,,,,,,,,autosomal recessive intellectual developmental disorder 29,DOID:0081192,,OMIM ID:614333 +BMGC_DS21922,BMG_DS080568,,,,,,,,,,,autosomal recessive intellectual developmental disorder 33,DOID:0081194,,OMIM ID:614341 +BMGC_DS21923,BMG_DS080569,,,,,,,,,,,autosomal recessive intellectual developmental disorder 30,DOID:0081195,,OMIM ID:614342 +BMGC_DS21924,BMG_DS080570,,,,,,,,,,,autosomal recessive intellectual developmental disorder 23,DOID:0081196,,OMIM ID:614344 +BMGC_DS21925,BMG_DS080571,,,,,,,,,,,autosomal recessive intellectual developmental disorder 24,DOID:0081197,,OMIM ID:614345 +BMGC_DS21926,BMG_DS080572,,,,,,,,,,,autosomal recessive intellectual developmental disorder 25,DOID:0081198,,OMIM ID:614346 +BMGC_DS21927,BMG_DS080573,,,,,,,,,,,autosomal recessive intellectual developmental disorder 28,DOID:0081199,,OMIM ID:614347 +BMGC_DS21928,BMG_DS080574,,,,,,,,,,,hereditary nonpolyposis colorectal cancer type 7,DOID:0070276,,OMIM ID:614385 +BMGC_DS21929,BMG_DS080575,,,,,,,,,,,early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,DOID:0111333,,OMIM ID:614399 +BMGC_DS21930,BMG_DS080576,,,,,,,,,,,congenital disorder of glycosylation Ir,DOID:0080569,,OMIM ID:614507 +BMGC_DS21931,BMG_DS080577,,,,,,,,,,,developmental and epileptic encephalopathy 13,DOID:0080445,,OMIM ID:614558 +BMGC_DS21932,BMG_DS080578,,,,,,,,,,,infantile cerebellar-retinal degeneration,DOID:0050883,,OMIM ID:614559 +BMGC_DS21933,BMG_DS080579,,,,,,,,,,,congenital disorder of glycosylation type IIl,DOID:0070264,,OMIM ID:614576 +BMGC_DS21934,BMG_DS080580,,,,,,,,,,,combined oxidative phosphorylation deficiency 9,DOID:0111472,,OMIM ID:614582 +BMGC_DS21935,BMG_DS080581,,,,,,,,,,,Cornelia de Lange syndrome 4,DOID:0080508,,OMIM ID:614701 +BMGC_DS21936,BMG_DS080582,,,,,,,,,,,combined oxidative phosphorylation deficiency 10,DOID:0111480,,OMIM ID:614702 +BMGC_DS21937,BMG_DS080583,,,,,,,,,,,Brown-Vialetto-Van Laere syndrome 2,DOID:0080786,,OMIM ID:614707 +BMGC_DS21938,BMG_DS080584,,,,,,,,,,,congenital disorder of glycosylation type IIk,DOID:0070263,,OMIM ID:614727 +BMGC_DS21939,BMG_DS080585,,,,,,,,,,,IMAGe syndrome,DOID:0050885,,OMIM ID:614732 +BMGC_DS21940,BMG_DS080586,,,,,,,,,,,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",DOID:0110001,,OMIM ID:614739 +BMGC_DS21941,BMG_DS080587,,,,,,,,,,,mitochondrial pyruvate carrier deficiency,DOID:0080363,,OMIM ID:614741 +BMGC_DS21942,BMG_DS080588,,,,,,,,,,,Sotos syndrome 2,DOID:0112102,,OMIM ID:614753 +BMGC_DS21943,BMG_DS080589,,,,,,,,,,,centronuclear myopathy 4,DOID:0111224,,OMIM ID:614807 +BMGC_DS21944,BMG_DS080590,,,,,,,,,,,idiopathic generalized epilepsy 12,DOID:0111313,,OMIM ID:614847 +BMGC_DS21945,BMG_DS080591,,,,,,,,,,,peroxisome biogenesis disorder 3A,DOID:0080478,,OMIM ID:614859 +BMGC_DS21946,BMG_DS080592,,,,,,,,,,,peroxisome biogenesis disorder 4A,DOID:0080479,,OMIM ID:614862 +BMGC_DS21947,BMG_DS080593,,,,,,,,,,,peroxisome biogenesis disorder 6A,DOID:0080481,,OMIM ID:614870 +BMGC_DS21948,BMG_DS080594,,,,,,,,,,,Peroxisome biogenesis disorder 6B,DOID:0081435,,OMIM ID:614871 +BMGC_DS21949,BMG_DS080595,,,,,,,,,,,Peroxisome biogenesis disorder 7B,DOID:0081436,,OMIM ID:614873 +BMGC_DS21950,BMG_DS080596,,,,,,,,,,,peroxisome biogenesis disorder 8A,DOID:0080483,,OMIM ID:614876 +BMGC_DS21951,BMG_DS080597,,,,,,,,,,,Peroxisome biogenesis disorder 8B,DOID:0081437,,OMIM ID:614877 +BMGC_DS21952,BMG_DS080598,,,,,,,,,,,Peroxisome biogenesis disorder 9B,DOID:0081438,,OMIM ID:614879 +BMGC_DS21953,BMG_DS080599,,,,,,,,,,,autosomal recessive distal hereditary motor neuronopathy 5,DOID:0111214,,OMIM ID:614881 +BMGC_DS21954,BMG_DS080600,,,,,,,,,,,congenital disorder of glycosylation It,DOID:0080570,,OMIM ID:614921 +BMGC_DS21955,BMG_DS080601,,,,,,,,,,,combined oxidative phosphorylation deficiency 11,DOID:0111481,,OMIM ID:614922 +BMGC_DS21956,BMG_DS080602,,,,,,,,,,,combined oxidative phosphorylation deficiency 12,DOID:0111493,,OMIM ID:614924 +BMGC_DS21957,BMG_DS080603,,,,,,,,,,,combined oxidative phosphorylation deficiency 13,DOID:0111467,,OMIM ID:614932 +BMGC_DS21958,BMG_DS080604,,,,,,,,,,,combined oxidative phosphorylation deficiency 14,DOID:0111477,,OMIM ID:614946 +BMGC_DS21959,BMG_DS080605,,,,,,,,,,,combined oxidative phosphorylation deficiency 15,DOID:0111491,,OMIM ID:614947 +BMGC_DS21960,BMG_DS080606,,,,,,,,,,,developmental and epileptic encephalopathy 14,DOID:0080439,,OMIM ID:614959 +BMGC_DS21961,BMG_DS080607,,,,,,,,,,,Schuurs-Hoeijmakers Syndrome,DOID:0070047,,OMIM ID:615009 +BMGC_DS21962,BMG_DS080608,,,,,,,,,,,congenital disorder of glycosylation Iu,DOID:0080571,,OMIM ID:615042 +BMGC_DS21963,BMG_DS080609,,,,,,,,,,,distal arthrogryposis type 5D,DOID:0111594,,OMIM ID:615065 +BMGC_DS21964,BMG_DS080610,,,,,,,,,,,autosomal recessive intellectual developmental disorder 35,DOID:0081201,,OMIM ID:615162 +BMGC_DS21965,BMG_DS080611,,,,,,,,,,,osteosclerotic metaphyseal dysplasia,DOID:0081111,,OMIM ID:615198 +BMGC_DS21966,BMG_DS080612,,,,,,,,,,,schizophrenia 18,DOID:0070093,,OMIM ID:615232 +BMGC_DS21967,BMG_DS080613,,,,,,,,,,,familial partial lipodystrophy type 5,DOID:0070203,,OMIM ID:615238 +BMGC_DS21968,BMG_DS080614,,,,,,,,,,,"neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies",DOID:0081099,,OMIM ID:615286 +BMGC_DS21969,BMG_DS080615,,,,,,,,,,,spinal muscular atrophy with lower extremity predominant 2A,DOID:0070349,,OMIM ID:615290 +BMGC_DS21970,BMG_DS080616,,,,,,,,,,,oculocutaneous albinism type V,DOID:0070099,,OMIM ID:615312 +BMGC_DS21971,BMG_DS080617,,,,,,,,,,,multiple mitochondrial dysfunctions syndrome 3,DOID:0080135,,OMIM ID:615330 +BMGC_DS21972,BMG_DS080618,,,,,,,,,,,central precocious puberty 2,DOID:0112309,,OMIM ID:615346 +BMGC_DS21973,BMG_DS080619,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 14,DOID:0080058,,OMIM ID:615386 +BMGC_DS21974,BMG_DS080620,,,,,,,,,,,coronin-1A deficiency,DOID:0060019,,OMIM ID:615401 +BMGC_DS21975,BMG_DS080621,,,,,,,,,,,mitochondrial DNA depletion syndrome 13,DOID:0080131,,OMIM ID:615471 +BMGC_DS21976,BMG_DS080622,,,,,,,,,,,Bainbridge-Ropers syndrome,DOID:0080893,,OMIM ID:615485 +BMGC_DS21977,BMG_DS080623,,,,,,,,,,,autosomal recessive intellectual developmental disorder 37,DOID:0081202,,OMIM ID:615493 +BMGC_DS21978,BMG_DS080624,,,,,,,,,,,autosomal dominant intellectual developmental disorder 21,DOID:0070051,,OMIM ID:615502 +BMGC_DS21979,BMG_DS080625,,,,,,,,,,,"alacrima, achalasia, and impaired intellectual development syndrome",DOID:0112321,,OMIM ID:615510 +BMGC_DS21980,BMG_DS080626,,,,,,,,,,,familial hypobetalipoproteinemia 1,DOID:0111062,,OMIM ID:615558 +BMGC_DS21981,BMG_DS080627,,,,,,,,,,,autosomal dominant distal hereditary motor neuronopathy 6,DOID:0111210,,OMIM ID:615575 +BMGC_DS21982,BMG_DS080628,,,,,,,,,,,congenital disorder of glycosylation Ix,DOID:0080573,,OMIM ID:615597 +BMGC_DS21983,BMG_DS080629,,,,,,,,,,,autosomal recessive intellectual developmental disorder 41,DOID:0081206,,OMIM ID:615637 +BMGC_DS21984,BMG_DS080630,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 15,DOID:0080057,,OMIM ID:615705 +BMGC_DS21985,BMG_DS080631,,,,,,,,,,,Bosch-Boonstra-Schaaf optic atrophy syndrome,DOID:0112226,,OMIM ID:615722 +BMGC_DS21986,BMG_DS080632,,,,,,,,,,,developmental and epileptic encephalopathy 19,DOID:0080431,,OMIM ID:615744 +BMGC_DS21987,BMG_DS080633,,,,,,,,,,,autosomal dominant intellectual developmental disorder 23,DOID:0070053,,OMIM ID:615761 +BMGC_DS21988,BMG_DS080634,,,,,,,,,,,common variable immunodeficiency 11,DOID:0081153,,OMIM ID:615767 +BMGC_DS21989,BMG_DS080635,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 16,DOID:0080029,,OMIM ID:615768 +BMGC_DS21990,BMG_DS080636,,,,,,,,,,,pontocerebellar hypoplasia type 10,DOID:0060279,,OMIM ID:615803 +BMGC_DS21991,BMG_DS080637,,,,,,,,,,,autosomal recessive intellectual developmental disorder 43,DOID:0081207,,OMIM ID:615817 +BMGC_DS21992,BMG_DS080638,,,,,,,,,,,autosomal dominant intellectual developmental disorder 26,DOID:0070056,,OMIM ID:615834 +BMGC_DS21993,BMG_DS080639,,,,,,,,,,,Culler-Jones syndrome,DOID:0080328,,OMIM ID:615849 +BMGC_DS21994,BMG_DS080640,,,,,,,,,,,Helsmoortel-Van Der Aa Syndrome,DOID:0070058,,OMIM ID:615873 +BMGC_DS21995,BMG_DS080641,,,,,,,,,,,progressive familial intrahepatic cholestasis 4,DOID:0070224,,OMIM ID:615878 +BMGC_DS21996,BMG_DS080642,,,,,,,,,,,Tatton-Brown-Rahman syndrome,DOID:0112339,,OMIM ID:615879 +BMGC_DS21997,BMG_DS080643,,,,,,,,,,,orofacial cleft 14,DOID:0080407,,OMIM ID:615892 +BMGC_DS21998,BMG_DS080644,,,,,,,,,,,developmental and epileptic encephalopathy 25,DOID:0080453,,OMIM ID:615905 +BMGC_DS21999,BMG_DS080645,,,,,,,,,,,combined oxidative phosphorylation deficiency 21,DOID:0111465,,OMIM ID:615918 +BMGC_DS22000,BMG_DS080646,,,,,,,,,,,autosomal recessive intellectual developmental disorder 44,DOID:0081208,,OMIM ID:615942 +BMGC_DS22001,BMG_DS080647,,,,,,,,,,,orofaciodigital syndrome XIV,DOID:0060958,,OMIM ID:615948 +BMGC_DS22002,BMG_DS080648,,,,,,,,,,,spinocerebellar ataxia type 38,DOID:0050985,,OMIM ID:615957 +BMGC_DS22003,BMG_DS080649,,,,,,,,,,,autosomal recessive intellectual developmental disorder 45,DOID:0081209,,OMIM ID:615979 +BMGC_DS22004,BMG_DS080650,,,,,,,,,,,familial partial lipodystrophy type 6,DOID:0070206,,OMIM ID:615980 +BMGC_DS22005,BMG_DS080651,,,,,,,,,,,severe congenital neutropenia 6,DOID:0112134,,OMIM ID:616022 +BMGC_DS22006,BMG_DS080652,,,,,,,,,,,spinocerebellar ataxia type 40,DOID:0050986,,OMIM ID:616053 +BMGC_DS22007,BMG_DS080653,,,,,,,,,,,episodic ataxia type 8,DOID:0050996,,OMIM ID:616055 +BMGC_DS22008,BMG_DS080654,,,,,,,,,,,developmental and epileptic encephalopathy 26,DOID:0080461,,OMIM ID:616056 +BMGC_DS22009,BMG_DS080655,,,,,,,,,,,autosomal dominant intellectual developmental disorder 29,DOID:0070059,,OMIM ID:616078 +BMGC_DS22010,BMG_DS080656,,,,,,,,,,,muscular dystrophy-dystroglycanopathy type C12,DOID:0112381,,OMIM ID:616094 +BMGC_DS22011,BMG_DS080657,,,,,,,,,,,psoriasis 15,DOID:0111281,,OMIM ID:616106 +BMGC_DS22012,BMG_DS080658,,,,,,,,,,,autosomal recessive intellectual developmental disorder 46,DOID:0081210,,OMIM ID:616116 +BMGC_DS22013,BMG_DS080659,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 17,DOID:0080064,,OMIM ID:616127 +BMGC_DS22014,BMG_DS080660,,,,,,,,,,,rhizomelic chondrodysplasia punctate type 4,DOID:0081243,,OMIM ID:616154 +BMGC_DS22015,BMG_DS080661,,,,,,,,,,,combined oxidative phosphorylation deficiency 23,DOID:0111500,,OMIM ID:616198 +BMGC_DS22016,BMG_DS080662,,,,,,,,,,,Ruijs-Aalfs syndrome,DOID:0111264,,OMIM ID:616200 +BMGC_DS22017,BMG_DS080663,,,,,,,,,,,chronic atrial and intestinal dysrhythmia,DOID:0060339,,OMIM ID:616201 +BMGC_DS22018,BMG_DS080664,,,,,,,,,,,isolated mitochondrial myopathy,DOID:0081357,,OMIM ID:616209 +BMGC_DS22019,BMG_DS080665,,,,,,,,,,,lissencephaly 6,DOID:0112236,,OMIM ID:616212 +BMGC_DS22020,BMG_DS080666,,,,,,,,,,,progressive myoclonus epilepsy 8,DOID:0111451,,OMIM ID:616230 +BMGC_DS22021,BMG_DS080667,,,,,,,,,,,combined oxidative phosphorylation deficiency 24,DOID:0111485,,OMIM ID:616239 +BMGC_DS22022,BMG_DS080668,,,,,,,,,,,congenital limbs-face contractures-hypotonia-developmental delay syndrome,DOID:0081048,,OMIM ID:616266 +BMGC_DS22023,BMG_DS080669,,,,,,,,,,,Arboleda-Tham syndrome,DOID:0070062,,OMIM ID:616268 +BMGC_DS22024,BMG_DS080670,,,,,,,,,,,autosomal recessive intellectual developmental disorder 48,DOID:0081212,,OMIM ID:616269 +BMGC_DS22025,BMG_DS080671,,,,,,,,,,,primary coenzyme Q10 deficiency 7,DOID:0070244,,OMIM ID:616276 +BMGC_DS22026,BMG_DS080672,,,,,,,,,,,congenital bile acid synthesis defect 5,DOID:0111066,,OMIM ID:616278 +BMGC_DS22027,BMG_DS080673,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 19,DOID:0080065,,OMIM ID:616291 +BMGC_DS22028,BMG_DS080674,,,,,,,,,,,autosomal dominant intellectual developmental disorder 33,DOID:0070063,,OMIM ID:616311 +BMGC_DS22029,BMG_DS080675,,,,,,,,,,,developmental and epileptic encephalopathy 31A,DOID:0080437,,OMIM ID:616346 +BMGC_DS22030,BMG_DS080676,,,,,,,,,,,autosomal dominant intellectual developmental disorder 34,DOID:0070064,,OMIM ID:616351 +BMGC_DS22031,BMG_DS080677,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 20,DOID:0080066,,OMIM ID:616354 +BMGC_DS22032,BMG_DS080678,,,,,,,,,,,autosomal dominant intellectual developmental disorder 36,DOID:0070066,,OMIM ID:616362 +BMGC_DS22033,BMG_DS080679,,,,,,,,,,,White-Sutton syndrome,DOID:0070067,,OMIM ID:616364 +BMGC_DS22034,BMG_DS080680,,,,,,,,,,,developmental and epileptic encephalopathy 32,DOID:0080416,,OMIM ID:616366 +BMGC_DS22035,BMG_DS080681,,,,,,,,,,,mandibulofacial dysostosis with alopecia,DOID:0060365,,OMIM ID:616367 +BMGC_DS22036,BMG_DS080682,,,,,,,,,,,multiple mitochondrial dysfunctions syndrome 4,DOID:0080136,,OMIM ID:616370 +BMGC_DS22037,BMG_DS080683,,,,,,,,,,,autosomal dominant intellectual developmental disorder 38,DOID:0070068,,OMIM ID:616393 +BMGC_DS22038,BMG_DS080684,,,,,,,,,,,cerebellar ataxia type 41,DOID:0111744,,OMIM ID:616410 +BMGC_DS22039,BMG_DS080685,,,,,,,,,,,"autoimmune interstitial lung, joint, and kidney disease",DOID:0081242,,OMIM ID:616414 +BMGC_DS22040,BMG_DS080686,,,,,,,,,,,hypomyelinating leukodystrophy 10,DOID:0060788,,OMIM ID:616420 +BMGC_DS22041,BMG_DS080687,,,,,,,,,,,myoclonic-atonic epilepsy,DOID:0060475,,OMIM ID:616421 +BMGC_DS22042,BMG_DS080688,,,,,,,,,,,combined oxidative phosphorylation deficiency 25,DOID:0111468,,OMIM ID:616430 +BMGC_DS22043,BMG_DS080689,,,,,,,,,,,hereditary spastic paraplegia 74,DOID:0110819,,OMIM ID:616451 +BMGC_DS22044,BMG_DS080690,,,,,,,,,,,developmental and epileptic encephalopathy 50,DOID:0080419,,OMIM ID:616457 +BMGC_DS22045,BMG_DS080691,,,,,,,,,,,autosomal recessive intellectual developmental disorder 50,DOID:0081213,,OMIM ID:616460 +BMGC_DS22046,BMG_DS080692,,,,,,,,,,,hereditary sensory and autonomic neuropathy type 8,DOID:0070153,,OMIM ID:616488 +BMGC_DS22047,BMG_DS080693,,,,,,,,,,,Charcot-Marie-Tooth disease axonal type 2V,DOID:0110178,,OMIM ID:616491 +BMGC_DS22048,BMG_DS080694,,,,,,,,,,,cone-rod dystrophy 21,DOID:0081447,,OMIM ID:616502 +BMGC_DS22049,BMG_DS080695,,,,,,,,,,,autosomal recessive Emery-Dreifuss muscular dystrophy 3,DOID:0070248,,OMIM ID:616516 +BMGC_DS22050,BMG_DS080696,,,,,,,,,,,combined oxidative phosphorylation deficiency 26,DOID:0111490,,OMIM ID:616539 +BMGC_DS22051,BMG_DS080697,,,,,,,,,,,progressive myoclonus epilepsy 9,DOID:0111450,,OMIM ID:616540 +BMGC_DS22052,BMG_DS080698,,,,,,,,,,,Klippel-Feil syndrome 4,DOID:0080592,,OMIM ID:616549 +BMGC_DS22053,BMG_DS080699,,,,,,,,,,,spondyloepiphyseal dysplasia Stanescu type,DOID:0112281,,OMIM ID:616583 +BMGC_DS22054,BMG_DS080700,,,,,,,,,,,immunodeficiency 42,DOID:0111940,,OMIM ID:616622 +BMGC_DS22055,BMG_DS080701,,,,,,,,,,,"Charcot-Marie-Tooth disease, axonal type 2W",DOID:0110162,,OMIM ID:616625 +BMGC_DS22056,BMG_DS080702,,,,,,,,,,,developmental and epileptic encephalopathy 35,DOID:0080458,,OMIM ID:616647 +BMGC_DS22057,BMG_DS080703,,,,,,,,,,,Charcot-Marie-Tooth disease axonal type 2X,DOID:0110176,,OMIM ID:616668 +BMGC_DS22058,BMG_DS080704,,,,,,,,,,,combined oxidative phosphorylation deficiency 27,DOID:0111489,,OMIM ID:616672 +BMGC_DS22059,BMG_DS080705,,,,,,,,,,,idiopathic generalized epilepsy 14,DOID:0111315,,OMIM ID:616685 +BMGC_DS22060,BMG_DS080706,,,,,,,,,,,Charcot-Marie-Tooth disease axonal type 2Z,DOID:0110181,,OMIM ID:616688 +BMGC_DS22061,BMG_DS080707,,,,,,,,,,,rhizomelic chondrodysplasia punctata type 5,DOID:0110854,,OMIM ID:616716 +BMGC_DS22062,BMG_DS080708,,,,,,,,,,,congenital disorder of glycosylation type IIn,DOID:0070266,,OMIM ID:616721 +BMGC_DS22063,BMG_DS080709,,,,,,,,,,,congenital symmetric circumferential skin creases 2,DOID:0112243,,OMIM ID:616734 +BMGC_DS22064,BMG_DS080710,,,,,,,,,,,orofacial cleft 15,DOID:0080408,,OMIM ID:616788 +BMGC_DS22065,BMG_DS080711,,,,,,,,,,,combined oxidative phosphorylation deficiency 28,DOID:0111470,,OMIM ID:616794 +BMGC_DS22066,BMG_DS080712,,,,,,,,,,,cerebellar ataxia type 42,DOID:0111742,,OMIM ID:616795 +BMGC_DS22067,BMG_DS080713,,,,,,,,,,,combined oxidative phosphorylation deficiency 29,DOID:0111501,,OMIM ID:616811 +BMGC_DS22068,BMG_DS080714,,,,,,,,,,,autosomal recessive limb-girdle muscular dystrophy type 2X,DOID:0110290,,OMIM ID:616812 +BMGC_DS22069,BMG_DS080715,,,,,,,,,,,autosomal recessive limb-girdle muscular dystrophy type 2W,DOID:0110288,,OMIM ID:616827 +BMGC_DS22070,BMG_DS080716,,,,,,,,,,,congenital disorder of glycosylation type IIo,DOID:0070267,,OMIM ID:616828 +BMGC_DS22071,BMG_DS080717,,,,,,,,,,,congenital disorder of glycosylation type IIp,DOID:0070268,,OMIM ID:616829 +BMGC_DS22072,BMG_DS080718,,,,,,,,,,,TANGO2-related metabolic encephalopathy and arrythmias,DOID:0081386,,OMIM ID:616878 +BMGC_DS22073,BMG_DS080719,,,,,,,,,,,diphthamide deficiency syndrome 1,DOID:0070477,,OMIM ID:616901 +BMGC_DS22074,BMG_DS080720,,,,,,,,,,,poor metabolism of thiopurines 2,DOID:0060996,,OMIM ID:616903 +BMGC_DS22075,BMG_DS080721,,,,,,,,,,,hereditary spastic paraplegia 76,DOID:0110821,,OMIM ID:616907 +BMGC_DS22076,BMG_DS080722,,,,,,,,,,,autosomal recessive spinocerebellar ataxia 23,DOID:0111613,,OMIM ID:616949 +BMGC_DS22077,BMG_DS080723,,,,,,,,,,,autosomal dominant intellectual developmental disorder 42,DOID:0070072,,OMIM ID:616973 +BMGC_DS22078,BMG_DS080724,,,,,,,,,,,combined oxidative phosphorylation deficiency 30,DOID:0111471,,OMIM ID:616974 +BMGC_DS22079,BMG_DS080725,,,,,,,,,,,autosomal dominant intellectual developmental disorder 43,DOID:0070073,,OMIM ID:616977 +BMGC_DS22080,BMG_DS080726,,,,,,,,,,,hypermanganesemia with dystonia 2,DOID:0080537,,OMIM ID:617013 +BMGC_DS22081,BMG_DS080727,,,,,,,,,,,otulipenia,DOID:0080163,,OMIM ID:617099 +BMGC_DS22082,BMG_DS080728,,,,,,,,,,,developmental and epileptic encephalopathy 42,DOID:0080454,,OMIM ID:617106 +BMGC_DS22083,BMG_DS080729,,,,,,,,,,,patterned macular dystrophy 3,DOID:0060865,,OMIM ID:617111 +BMGC_DS22084,BMG_DS080730,,,,,,,,,,,developmental and epileptic encephalopathy 46,DOID:0080456,,OMIM ID:617162 +BMGC_DS22085,BMG_DS080731,,,,,,,,,,,intellectual developmental disorder with cardiac arrhythmia,DOID:0081008,,OMIM ID:617173 +BMGC_DS22086,BMG_DS080732,,,,,,,,,,,Harel-Yoon syndrome,DOID:0081395,,OMIM ID:617183 +BMGC_DS22087,BMG_DS080733,,,,,,,,,,,autosomal recessive intellectual developmental disorder 57,DOID:0081219,,OMIM ID:617188 +BMGC_DS22088,BMG_DS080734,,,,,,,,,,,early onset progressive encephalopathy with brain atrophy and thin corpus callosum,DOID:0070423,,OMIM ID:617193 +BMGC_DS22089,BMG_DS080735,,,,,,,,,,,hereditary spastic paraplegia 78,DOID:0112348,,OMIM ID:617225 +BMGC_DS22090,BMG_DS080736,,,,,,,,,,,autosomal recessive limb-girdle muscular dystrophy type 2Z,DOID:0080762,,OMIM ID:617232 +BMGC_DS22091,BMG_DS080737,,,,,,,,,,,autosomal recessive intellectual developmental disorder 58,DOID:0081220,,OMIM ID:617270 +BMGC_DS22092,BMG_DS080738,,,,,,,,,,,childhood-onset dystonia with optic atrophy and basal ganglia abnormalities,DOID:0081419,,OMIM ID:617282 +BMGC_DS22093,BMG_DS080739,,,,,,,,,,,amelogenesis imperfecta type 1J,DOID:0080953,,OMIM ID:617297 +BMGC_DS22094,BMG_DS080740,,,,,,,,,,,anterior segment dysgenesis 8,DOID:0080613,,OMIM ID:617319 +BMGC_DS22095,BMG_DS080741,,,,,,,,,,,autosomal recessive intellectual developmental disorder 59,DOID:0081221,,OMIM ID:617323 +BMGC_DS22096,BMG_DS080742,,,,,,,,,,,congenital disorder of glycosylation type IIq,DOID:0070269,,OMIM ID:617395 +BMGC_DS22097,BMG_DS080743,,,,,,,,,,,autosomal recessive intellectual developmental disorder 60,DOID:0081222,,OMIM ID:617432 +BMGC_DS22098,BMG_DS080744,,,,,,,,,,,"46,XX sex reversal 4",DOID:0111764,,OMIM ID:617480 +BMGC_DS22099,BMG_DS080745,,,,,,,,,,,pituitary adenoma 5,DOID:0112008,,OMIM ID:617540 +BMGC_DS22100,BMG_DS080746,,,,,,,,,,,spastic ataxia 8,DOID:0080252,,OMIM ID:617560 +BMGC_DS22101,BMG_DS080747,,,,,,,,,,,autosomal recessive congenital ichthyosis 14,DOID:0080258,,OMIM ID:617571 +BMGC_DS22102,BMG_DS080748,,,,,,,,,,,autosomal recessive congenital ichthyosis 13,DOID:0080257,,OMIM ID:617574 +BMGC_DS22103,BMG_DS080749,,,,,,,,,,,autosomal dominant intellectual developmental disorder 45,DOID:0080236,,OMIM ID:617600 +BMGC_DS22104,BMG_DS080750,,,,,,,,,,,autosomal dominant intellectual developmental disorder 46,DOID:0080237,,OMIM ID:617601 +BMGC_DS22105,BMG_DS080751,,,,,,,,,,,multiple mitochondrial dysfunctions syndrome 5,DOID:0080274,,OMIM ID:617613 +BMGC_DS22106,BMG_DS080752,,,,,,,,,,,schizophrenia 19,DOID:0080281,,OMIM ID:617629 +BMGC_DS22107,BMG_DS080753,,,,,,,,,,,autosomal dominant intellectual developmental disorder 47,DOID:0080238,,OMIM ID:617635 +BMGC_DS22108,BMG_DS080754,,,,,,,,,,,pituitary adenoma 3,DOID:0112010,,OMIM ID:617686 +BMGC_DS22109,BMG_DS080755,,,,,,,,,,,pontocerebellar hypoplasia type 11,DOID:0112324,,OMIM ID:617695 +BMGC_DS22110,BMG_DS080756,,,,,,,,,,,3-methylglutaconic aciduria type 9,DOID:0070002,,OMIM ID:617698 +BMGC_DS22111,BMG_DS080757,,,,,,,,,,,combined oxidative phosphorylation deficiency 33,DOID:0111495,,OMIM ID:617713 +BMGC_DS22112,BMG_DS080758,,,,,,,,,,,multiple epiphyseal dysplasia 7,DOID:0070302,,OMIM ID:617719 +BMGC_DS22113,BMG_DS080759,,,,,,,,,,,autosomal dominant intellectual developmental disorder 48,DOID:0080235,,OMIM ID:617751 +BMGC_DS22114,BMG_DS080760,,,,,,,,,,,spinocerebellar ataxia 45,DOID:0080287,,OMIM ID:617769 +BMGC_DS22115,BMG_DS080761,,,,,,,,,,,spinocerebellar ataxia 46,DOID:0080288,,OMIM ID:617770 +BMGC_DS22116,BMG_DS080762,,,,,,,,,,,autosomal recessive intellectual developmental disorder 61,DOID:0080239,,OMIM ID:617773 +BMGC_DS22117,BMG_DS080763,,,,,,,,,,,autosomal dominant intellectual developmental disorder 50,DOID:0080233,,OMIM ID:617787 +BMGC_DS22118,BMG_DS080764,,,,,,,,,,,autosomal dominant intellectual developmental disorder 51,DOID:0080232,,OMIM ID:617788 +BMGC_DS22119,BMG_DS080765,,,,,,,,,,,autosomal dominant intellectual developmental disorder 52,DOID:0080231,,OMIM ID:617796 +BMGC_DS22120,BMG_DS080766,,,,,,,,,,,autosomal dominant intellectual developmental disorder 53,DOID:0080228,,OMIM ID:617798 +BMGC_DS22121,BMG_DS080767,,,,,,,,,,,autosomal dominant intellectual developmental disorder 54,DOID:0080230,,OMIM ID:617799 +BMGC_DS22122,BMG_DS080768,,,,,,,,,,,geleophysic dysplasia 3,DOID:0111727,,OMIM ID:617809 +BMGC_DS22123,BMG_DS080769,,,,,,,,,,,immunodeficiency 55,DOID:0111993,,OMIM ID:617827 +BMGC_DS22124,BMG_DS080770,,,,,,,,,,,amyotrophic lateral sclerosis type 23,DOID:0080225,,OMIM ID:617839 +BMGC_DS22125,BMG_DS080771,,,,,,,,,,,autosomal dominant intellectual developmental disorder 56,DOID:0080226,,OMIM ID:617854 +BMGC_DS22126,BMG_DS080772,,,,,,,,,,,combined oxidative phosphorylation deficiency 34,DOID:0111497,,OMIM ID:617872 +BMGC_DS22127,BMG_DS080773,,,,,,,,,,,amyotrophic lateral sclerosis type 24,DOID:0081378,,OMIM ID:617892 +BMGC_DS22128,BMG_DS080774,,,,,,,,,,,amyotrophic lateral sclerosis type 25,DOID:0081379,,OMIM ID:617921 +BMGC_DS22129,BMG_DS080775,,,,,,,,,,,juvenile myoclonic epilepsy 10,DOID:0111325,,OMIM ID:617924 +BMGC_DS22130,BMG_DS080776,,,,,,,,,,,orofaciodigital syndrome XVIII,DOID:0060961,,OMIM ID:617927 +BMGC_DS22131,BMG_DS080777,,,,,,,,,,,multiple mitochondrial dysfunctions syndrome 6,DOID:0070332,,OMIM ID:617954 +BMGC_DS22132,BMG_DS080778,,,,,,,,,,,Ehlers-Danlos syndrome classic-like 2,DOID:0080732,,OMIM ID:618000 +BMGC_DS22133,BMG_DS080779,,,,,,,,,,,autosomal recessive intellectual developmental disorder 63,DOID:0081224,,OMIM ID:618095 +BMGC_DS22134,BMG_DS080780,,,,,,,,,,,autosomal recessive intellectual developmental disorder 64,DOID:0081225,,OMIM ID:618103 +BMGC_DS22135,BMG_DS080781,,,,,,,,,,,autosomal recessive intellectual developmental disorder 65,DOID:0081226,,OMIM ID:618109 +BMGC_DS22136,BMG_DS080782,,,,,,,,,,,developmental and epileptic encephalopathy 71,DOID:0112207,,OMIM ID:618328 +BMGC_DS22137,BMG_DS080783,,,,,,,,,,,idiopathic generalized epilepsy 15,DOID:0111316,,OMIM ID:618357 +BMGC_DS22138,BMG_DS080784,,,,,,,,,,,developmental and epileptic encephalopathy 73,DOID:0112209,,OMIM ID:618379 +BMGC_DS22139,BMG_DS080785,,,,,,,,,,,spondyloepimetaphyseal dysplasia with joint laxity type 3,DOID:0112200,,OMIM ID:618395 +BMGC_DS22140,BMG_DS080786,,,,,,,,,,,combined oxidative phosphorylation deficiency 39,DOID:0111475,,OMIM ID:618397 +BMGC_DS22141,BMG_DS080787,,,,,,,,,,,congenital myopathy 14,DOID:0081346,,OMIM ID:618414 +BMGC_DS22142,BMG_DS080788,,,,,,,,,,,long QT syndrome 8,DOID:0110649,,OMIM ID:618447 +BMGC_DS22143,BMG_DS080789,,,,,,,,,,,congenital nongoitrous hypothyroidism 7,DOID:0111836,,OMIM ID:618573 +BMGC_DS22144,BMG_DS080790,,,,,,,,,,,spondyloepiphyseal dysplasia Nishimura type,DOID:0112288,,OMIM ID:618618 +BMGC_DS22145,BMG_DS080791,,,,,,,,,,,primary ciliary dyskinesia 42,DOID:0111855,,OMIM ID:618695 +BMGC_DS22146,BMG_DS080792,,,,,,,,,,,congenital megabladder,DOID:0112014,,OMIM ID:618719 +BMGC_DS22147,BMG_DS080793,,,,,,,,,,,combined oxidative phosphorylation deficiency 40,DOID:0112117,,OMIM ID:618835 +BMGC_DS22148,BMG_DS080794,,,,,,,,,,,galactosemia 4,DOID:0060969,,OMIM ID:618881 +BMGC_DS22149,BMG_DS080795,,,,,,,,,,,oculopharyngodistal myopathy 2,DOID:0081298,,OMIM ID:618940 +BMGC_DS22150,BMG_DS080796,,,,,,,,,,,spondylometaphyseal dysplasia with corneal dystrophy,DOID:0112303,,OMIM ID:618961 +BMGC_DS22151,BMG_DS080797,,,,,,,,,,,AMED syndrome,DOID:0080952,,OMIM ID:619151 +BMGC_DS22152,BMG_DS080798,,,,,,,,,,,Mahvash Disease,DOID:0112306,,OMIM ID:619290 +BMGC_DS22153,BMG_DS080799,,,,,,,,,,,autosomal recessive intellectual developmental disorder 73,DOID:0081233,,OMIM ID:619717 +BMGC_DS22154,BMG_DS080800,,,,,,,,,,,autosomal recessive intellectual developmental disorder 76,DOID:0081235,,OMIM ID:619931 +BMGC_DS22155,BMG_DS080801,,,,,,,,,,,autosomal recessive intellectual developmental disorder 77,DOID:0081236,,OMIM ID:619988 +BMGC_DS22156,BMG_DS080802,,,,,,,,,,,developmental and epileptic encephalopathy 107,DOID:0070393,,OMIM ID:620033 +BMGC_DS22157,BMG_DS080803,,,,,,,,,,,hereditary spastic paraplegia 70,DOID:0070454,,OMIM ID:620323 +BMGC_DS22158,BMG_DS080804,,,,,,,,,,,nevoid basal cell carcinoma syndrome 2,DOID:0070366,,OMIM ID:620343 +BMGC_DS22159,BMG_DS080805,,,,,,,,,,,bradyopsia 2,DOID:0070364,,OMIM ID:620344 +BMGC_DS22160,BMG_DS080806,,,,,,,,,,,epidermolytic palmoplantar keratoderma 2,DOID:0070551,,OMIM ID:620411 +BMGC_DS22161,BMG_DS080807,,,,,,,,,,,spermatogenic failure 95,DOID:0070594,,OMIM ID:620917 +BMGC_DS22162,BMG_DS080808,,,,,,,,,,,congenital dyserythropoietic anemia type IVb,DOID:0051002,,OMIM ID:620969 +BMGC_DS22163,BMG_DS080809,,,,,,,,,,,primary cutaneous amyloidosis,DOID:0050639,,OMIM ID:PS105250 +BMGC_DS22164,BMG_DS080810,,,,,,,,,,,intracranial berry aneurysm,DOID:0060228,,OMIM ID:PS105800 +BMGC_DS22165,BMG_DS080811,,,,,,,,,,,distal arthrogryposis,DOID:0050646,,OMIM ID:PS108120 +BMGC_DS22166,BMG_DS080812,,,,,,,,,,,Stickler syndrome,DOID:0080046,,OMIM ID:PS108300 +BMGC_DS22167,BMG_DS080813,,,,,,,,,,,cerebral cavernous malformation,DOID:0060669,,OMIM ID:PS116860 +BMGC_DS22168,BMG_DS080814,,,,,,,,,,,orofacial cleft,DOID:0050567,,OMIM ID:PS119530 +BMGC_DS22169,BMG_DS080815,,,,,,,,,,,familial febrile seizures,DOID:0111297,,OMIM ID:PS121210 +BMGC_DS22170,BMG_DS080816,,,,,,,,,,,craniometaphyseal dysplasia,DOID:0080033,,OMIM ID:PS123000 +BMGC_DS22171,BMG_DS080817,,,,,,,,,,,Kenny-Caffey syndrome,DOID:0080724,,OMIM ID:PS127000 +BMGC_DS22172,BMG_DS080818,,,,,,,,,,,retinal macular dystrophy,DOID:0070438,,OMIM ID:PS136550 +BMGC_DS22173,BMG_DS080819,,,,,,,,,,,Teebi hypertelorism syndrome,DOID:0081073,,OMIM ID:PS145420 +BMGC_DS22174,BMG_DS080820,,,,,,,,,,,hyper IgE syndrome,DOID:0080545,,OMIM ID:PS147060 +BMGC_DS22175,BMG_DS080821,,,,,,,,,,,LADD syndrome,DOID:0081370,,OMIM ID:PS149730 +BMGC_DS22176,BMG_DS080822,,,,,,,,,,,autosomal dominant intellectual developmental disorder,DOID:0060307,,OMIM ID:PS156200 +BMGC_DS22177,BMG_DS080823,,,,,,,,,,,multiple benign circumferential skin creases on limbs,DOID:0112241,,OMIM ID:PS156610 +BMGC_DS22178,BMG_DS080824,,,,,,,,,,,spinal muscular atrophy with lower extremity predominant,DOID:0070348,,OMIM ID:PS158600 +BMGC_DS22179,BMG_DS080825,,,,,,,,,,,nonsyndromic congenital nail disorder,DOID:0080683,,OMIM ID:PS161050 +BMGC_DS22180,BMG_DS080826,,,,,,,,,,,oculopharyngodistal myopathy,DOID:0081296,,OMIM ID:PS164310 +BMGC_DS22181,BMG_DS080827,,,,,,,,,,,polycystic kidney disease,DOID:0080322,,OMIM ID:PS173900 +BMGC_DS22182,BMG_DS080828,,,,,,,,,,,brain small vessel disease,DOID:0112313,,OMIM ID:PS175780 +BMGC_DS22183,BMG_DS080829,,,,,,,,,,,progeroid syndrome,DOID:0081332,,OMIM ID:PS176670 +BMGC_DS22184,BMG_DS080830,,,,,,,,,,,autosomal dominant distal hereditary motor neuronopathy,DOID:0111198,,OMIM ID:PS182960 +BMGC_DS22185,BMG_DS080831,,,,,,,,,,,proximal symphalangism,DOID:0050788,,OMIM ID:PS185800 +BMGC_DS22186,BMG_DS080832,,,,,,,,,,,multiple synostoses syndrome,DOID:0050794,,OMIM ID:PS186500 +BMGC_DS22187,BMG_DS080833,,,,,,,,,,,familial glucocorticoid deficiency,DOID:0080620,,OMIM ID:PS202200 +BMGC_DS22188,BMG_DS080834,,,,,,,,,,,alopecia-mental retardation syndrome,DOID:0080627,,OMIM ID:PS203650 +BMGC_DS22189,BMG_DS080835,,,,,,,,,,,ARC syndrome,DOID:0050763,,OMIM ID:PS208085 +BMGC_DS22190,BMG_DS080836,,,,,,,,,,,3-methylcrotonyl-CoA carboxylase deficiency,DOID:0050710,,OMIM ID:PS210200 +BMGC_DS22191,BMG_DS080837,,,,,,,,,,,congenital disorder of glycosylation type I,DOID:0050570,,OMIM ID:PS212065 +BMGC_DS22192,BMG_DS080838,,,,,,,,,,,autosomal recessive cerebellar ataxia,DOID:0050950,,OMIM ID:PS213200 +BMGC_DS22193,BMG_DS080839,,,,,,,,,,,"craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome",DOID:0081072,,OMIM ID:PS213980 +BMGC_DS22194,BMG_DS080840,,,,,,,,,,,peroxisomal biogenesis disorder,DOID:0080377,,OMIM ID:PS214100 +BMGC_DS22195,BMG_DS080841,,,,,,,,,,,cerebrooculofacioskeletal syndrome,DOID:0080910,,OMIM ID:PS214150 +BMGC_DS22196,BMG_DS080842,,,,,,,,,,,congenital diarrhea,DOID:0060774,,OMIM ID:PS214700 +BMGC_DS22197,BMG_DS080843,,,,,,,,,,,congenital muscular dystrophy-dystroglycanopathy type A,DOID:0111229,,OMIM ID:PS236670 +BMGC_DS22198,BMG_DS080844,,,,,,,,,,,benign recurrent intrahepatic cholestasis,DOID:0070230,,OMIM ID:PS243300 +BMGC_DS22199,BMG_DS080845,,,,,,,,,,,Baraitser-Winter syndrome,DOID:0060229,,OMIM ID:PS243310 +BMGC_DS22200,BMG_DS080846,,,,,,,,,,,mandibuloacral dysplasia,DOID:0081127,,OMIM ID:PS248370 +BMGC_DS22201,BMG_DS080847,,,,,,,,,,,autosomal recessive intellectual developmental disorder,DOID:0060308,,OMIM ID:PS249500 +BMGC_DS22202,BMG_DS080848,,,,,,,,,,,primary autosomal recessive microcephaly,DOID:0070296,,OMIM ID:PS251200 +BMGC_DS22203,BMG_DS080849,,,,,,,,,,,nuclear type mitochondrial complex I deficiency,DOID:0112065,,OMIM ID:PS252010 +BMGC_DS22204,BMG_DS080850,,,,,,,,,,,proteosome-associated autoinflammatory syndrome,DOID:0060913,,OMIM ID:PS256040 +BMGC_DS22205,BMG_DS080851,,,,,,,,,,,spermatogenic failure,DOID:0111910,,OMIM ID:PS258150 +BMGC_DS22206,BMG_DS080852,,,,,,,,,,,pancreatic agenesis,DOID:0050877,,OMIM ID:PS260370 +BMGC_DS22207,BMG_DS080853,,,,,,,,,,,congenital bilateral absence of vas deferens,DOID:0111862,,OMIM ID:PS277180 +BMGC_DS22208,BMG_DS080854,,,,,,,,,,,spondylocostal dysostosis,DOID:0050568,,OMIM ID:PS277300 +BMGC_DS22209,BMG_DS080855,,,,,,,,,,,ectodermal dysplasia and immune deficiency,DOID:0081077,,OMIM ID:PS300291 +BMGC_DS22210,BMG_DS080856,,,,,,,,,,,cerebral creatine deficiency syndrome,DOID:0050798,,OMIM ID:PS300352 +BMGC_DS22211,BMG_DS080857,,,,,,,,,,,lymphoproliferative syndrome,DOID:0060704,,OMIM ID:PS308240 +BMGC_DS22212,BMG_DS080858,,,,,,,,,,,developmental and epileptic encephalopathy,DOID:0112202,,OMIM ID:PS308350 +BMGC_DS22213,BMG_DS080859,,,,,,,,,,,syndromic X-linked intellectual disability,DOID:0060309,,OMIM ID:PS309510 +BMGC_DS22214,BMG_DS080860,,,,,,,,,,,syndromic microphthalmia,DOID:0080636,,OMIM ID:PS309800 +BMGC_DS22215,BMG_DS080861,,,,,,,,,,,MLS syndrome,DOID:0111875,,OMIM ID:PS309801 +BMGC_DS22216,BMG_DS080862,,,,,,,,,,,hypomyelinating leukodystrophy,DOID:0060786,,OMIM ID:PS312080 +BMGC_DS22217,BMG_DS080863,,,,,,,,,,,Y-linked deafness,DOID:0111757,,OMIM ID:PS400043 +BMGC_DS22218,BMG_DS080864,,,,,,,,,,,D-2-hydroxyglutaric aciduria,DOID:0050575,,OMIM ID:PS600721 +BMGC_DS22219,BMG_DS080865,,,,,,,,,,,benign familial infantile epilepsy,DOID:0060169,,OMIM ID:PS601764 +BMGC_DS22220,BMG_DS080866,,,,,,,,,,,mitochondrial DNA depletion syndrome,DOID:0070329,,OMIM ID:PS603041 +BMGC_DS22221,BMG_DS080867,,,,,,,,,,,autosomal recessive distal hereditary motor neuronopathy,DOID:0111197,,OMIM ID:PS604320 +BMGC_DS22222,BMG_DS080868,,,,,,,,,,,advanced sleep phase syndrome,DOID:0050628,,OMIM ID:PS604348 +BMGC_DS22223,BMG_DS080869,,,,,,,,,,,familial focal epilepsy with variable foci,DOID:0081420,,OMIM ID:PS604364 +BMGC_DS22224,BMG_DS080870,,,,,,,,,,,coenzyme Q10 deficiency disease,DOID:0050730,,OMIM ID:PS607426 +BMGC_DS22225,BMG_DS080871,,,,,,,,,,,congenital generalized lipodystrophy,DOID:0050585,,OMIM ID:PS608594 +BMGC_DS22226,BMG_DS080872,,,,,,,,,,,combined oxidative phosphorylation deficiency,DOID:0060286,,OMIM ID:PS609060 +BMGC_DS22227,BMG_DS080873,,,,,,,,,,,Kleefstra syndrome,DOID:0080597,,OMIM ID:PS610253 +BMGC_DS22228,BMG_DS080874,,,,,,,,,,,hypophosphatemic nephrolithiasis/osteoporosis,DOID:0080655,,OMIM ID:PS612286 +BMGC_DS22229,BMG_DS080875,,,,,,,,,,,muscular dystrophy-dystroglycanopathy type B,DOID:0112375,,OMIM ID:PS613155 +BMGC_DS22230,BMG_DS080876,,,,,,,,,,,hypermanganesemia with dystonia,DOID:0080535,,OMIM ID:PS613280 +BMGC_DS22231,BMG_DS080877,,,,,,,,,,,hot water epilepsy,DOID:0081104,,OMIM ID:PS613339 +BMGC_DS22232,BMG_DS080878,,,,,,,,,,,complex cortical dysplasia with other brain malformations,DOID:0090131,,OMIM ID:PS614039 +BMGC_DS22233,BMG_DS080879,,,,,,,,,,,multiple congenital anomalies-hypotonia-seizures syndrome,DOID:0080503,,OMIM ID:PS614080 +BMGC_DS22234,BMG_DS080880,,,,,,,,,,,familial episodic pain syndrome,DOID:0111728,,OMIM ID:PS615040 +BMGC_DS22235,BMG_DS080881,,,,,,,,,,,infantile liver failure syndrome,DOID:0080716,,OMIM ID:PS615438 +BMGC_DS22236,BMG_DS080882,,,,,,,,,,,diphthamide deficiency syndrome,DOID:0070476,,OMIM ID:PS616901 +BMGC_DS22237,BMG_DS080883,,,,,,,,,,,arthrogryposis multiplex congenita,DOID:0080954,,OMIM ID:PS617468 +BMGC_DS22238,BMG_DS080884,,,,,,,,,,,Bryant-Li-Bhoj neurodevelopmental syndrome,DOID:0051010,,OMIM ID:PS619720 +BMGC_DS22239,BMG_DS080904,,,,,"Botulism, unspecified",ICD11 ID:1A11.Z,,,,,,,ICD10 ID:A05.1, +BMGC_DS22240,BMG_DS080952,,,,,,ICD11 ID:1B96/1G40,,,,,,,ICD10 ID:A26.7, +BMGC_DS22241,BMG_DS080976,,,,,,ICD11 ID:XN6BM/1G40,,,,,,,ICD10 ID:A41.0, +BMGC_DS22242,BMG_DS080978,,,,,,ICD11 ID:XN1P6/1G40,,,,,,,ICD10 ID:A41.3, +BMGC_DS22243,BMG_DS081114,,,,,HIV disease clinical stage 1 without mention of tuberculosis or malaria,ICD11 ID:1C62.0,,,,,,,ICD10 ID:B23.0, +BMGC_DS22244,BMG_DS081117,,,,,,ICD11 ID:1D82.Y/CA40.1Z,,,,,,,ICD10 ID:B25.0, +BMGC_DS22245,BMG_DS081174,,,,,,ICD11 ID:1F51.Z/1D00.2,,,,,,,ICD10 ID:B56.9, +BMGC_DS22246,BMG_DS081227,,,,,Streptococcus pneumoniae,ICD11 ID:XN3PW,,,,,,,ICD10 ID:B95.3, +BMGC_DS22247,BMG_DS081342,,,,,Hepatocellular carcinoma of liver,ICD11 ID:2C12.02,,,,,,,ICD10 ID:C22.0, +BMGC_DS22248,BMG_DS081907,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.0, +BMGC_DS22249,BMG_DS081908,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.1, +BMGC_DS22250,BMG_DS081909,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.2, +BMGC_DS22251,BMG_DS081910,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.3, +BMGC_DS22252,BMG_DS081911,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.4, +BMGC_DS22253,BMG_DS081912,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.5, +BMGC_DS22254,BMG_DS081913,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.6, +BMGC_DS22255,BMG_DS081914,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D37.7, +BMGC_DS22256,BMG_DS081916,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.0, +BMGC_DS22257,BMG_DS081917,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.1, +BMGC_DS22258,BMG_DS081918,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.2, +BMGC_DS22259,BMG_DS081919,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.3, +BMGC_DS22260,BMG_DS081920,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.4, +BMGC_DS22261,BMG_DS081921,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.5, +BMGC_DS22262,BMG_DS081922,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D38.6, +BMGC_DS22263,BMG_DS081923,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D39.0, +BMGC_DS22264,BMG_DS081924,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D39.1, +BMGC_DS22265,BMG_DS081925,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D39.2, +BMGC_DS22266,BMG_DS081926,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D39.7, +BMGC_DS22267,BMG_DS081927,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D39.9, +BMGC_DS22268,BMG_DS081928,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D40.0, +BMGC_DS22269,BMG_DS081929,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D40.1, +BMGC_DS22270,BMG_DS081930,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D40.7, +BMGC_DS22271,BMG_DS081931,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D40.9, +BMGC_DS22272,BMG_DS081932,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.0, +BMGC_DS22273,BMG_DS081933,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.1, +BMGC_DS22274,BMG_DS081934,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.2, +BMGC_DS22275,BMG_DS081935,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.3, +BMGC_DS22276,BMG_DS081936,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.4, +BMGC_DS22277,BMG_DS081937,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.7, +BMGC_DS22278,BMG_DS081938,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D41.9, +BMGC_DS22279,BMG_DS081949,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.0, +BMGC_DS22280,BMG_DS081950,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.1, +BMGC_DS22281,BMG_DS081951,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.2, +BMGC_DS22282,BMG_DS081952,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.3, +BMGC_DS22283,BMG_DS081953,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.4, +BMGC_DS22284,BMG_DS081954,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.5, +BMGC_DS22285,BMG_DS081955,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.6, +BMGC_DS22286,BMG_DS081956,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.7, +BMGC_DS22287,BMG_DS081957,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.8, +BMGC_DS22288,BMG_DS081958,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D44.9, +BMGC_DS22289,BMG_DS081972,,,,,"Neoplasms of haematopoietic or lymphoid tissues, unspecified",ICD11 ID:2B3Z,,,,,transient myeloproliferative syndrome,DOID:0060888,ICD10 ID:D47.7, +BMGC_DS22290,BMG_DS081973,,,,,"Neoplasms of haematopoietic or lymphoid tissues, unspecified",ICD11 ID:2B3Z,,,,,lymphoproliferative syndrome 2 | lymphoproliferative syndrome 1 | autoimmune lymphoproliferative syndrome type 2B,DOID:0060708;DOID:0110116;DOID:0060707,ICD10 ID:D47.9, +BMGC_DS22291,BMG_DS081974,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.0, +BMGC_DS22292,BMG_DS081975,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.1, +BMGC_DS22293,BMG_DS081976,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.2, +BMGC_DS22294,BMG_DS081977,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.3, +BMGC_DS22295,BMG_DS081978,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.4, +BMGC_DS22296,BMG_DS081979,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.5, +BMGC_DS22297,BMG_DS081980,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.6, +BMGC_DS22298,BMG_DS081981,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.7, +BMGC_DS22299,BMG_DS081982,,,,,,ICD11 ID:02,,,,,,,ICD10 ID:D48.9, +BMGC_DS22300,BMG_DS082038,,,,,Other specified inherited qualitative platelet defects,ICD11 ID:3B62.0Y,,,,,,,ICD10 ID:D82.0, +BMGC_DS22301,BMG_DS082039,,,,,Hyperimmunoglobulin E syndromes,ICD11 ID:4A01.34,,,,,,,ICD10 ID:D82.4, +BMGC_DS22302,BMG_DS082082,,,,,Type 2 diabetes mellitus,ICD11 ID:5A11,,,,,maturity-onset diabetes of the young,DOID:0050524,ICD10 ID:E11.8, +BMGC_DS22303,BMG_DS082121,,,,,Ectopic ACTH syndrome,ICD11 ID:5A70.1,,,,,ectopic Cushing syndrome,DOID:0060890,ICD10 ID:E24.3, +BMGC_DS22304,BMG_DS082136,,,,,Peripheral precocious puberty,ICD11 ID:5A92,,,,,aromatase excess syndrome,DOID:0090122,ICD10 ID:E30.1, +BMGC_DS22305,BMG_DS082179,,,,,"Obesity, unspecified",ICD11 ID:5B81.Z,,,,,,,ICD10 ID:E66.9, +BMGC_DS22306,BMG_DS082187,,,,,"Inborn errors of fatty acid oxidation or ketone body metabolism, unspecified",ICD11 ID:5C52.0Z,,,,,D-bifunctional protein deficiency | carnitine palmitoyltransferase I deficiency,DOID:0090031;DOID:0090129,ICD10 ID:E71.3, +BMGC_DS22307,BMG_DS082189,,,,,Disorders of methionine cycle or sulphur amino acid metabolism,ICD11 ID:5C50.B,,,,,hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | glycine N-methyltransferase deficiency | hypermethioninemia due to adenosine kinase deficiency,DOID:0111038;DOID:0111039;DOID:0111037,ICD10 ID:E72.1, +BMGC_DS22308,BMG_DS082197,,,,,Glycogen storage disease,ICD11 ID:5C51.3,,,,,glycogen storage disease IXd | glycogen storage disease IXa,DOID:0111040;DOID:0111042,ICD10 ID:E74.0, +BMGC_DS22309,BMG_DS082198,,,,,,,,,,,lethal congenital glycogen storage disease of heart,DOID:0090101,ICD10 ID:E74.0 | ICD10 ID:G73.6, +BMGC_DS22310,BMG_DS082204,,,,,Neuronal ceroid lipofuscinosis,ICD11 ID:5C56.1,,,,,neuronal ceroid lipofuscinosis 13 | neuronal ceroid lipofuscinosis 8 | neuronal ceroid lipofuscinosis 9 | neuronal ceroid lipofuscinosis 5 | neuronal ceroid lipofuscinosis 10 | neuronal ceroid lipofuscinosis 6A | neuronal ceroid lipofuscinosis 6B | neuronal ceroid lipofuscinosis 11 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | neuronal ceroid lipofuscinosis 3 | neuronal ceroid lipofuscinosis 7 | neuronal ceroid lipofuscinosis 2 | neuronal ceroid lipofuscinosis 1 | neuronal ceroid lipofuscinosis 4,DOID:0110720;DOID:0110732;DOID:0110725;DOID:0110724;DOID:0110722;DOID:0110728;DOID:0110733;DOID:0110731;DOID:0110723;DOID:0110726;DOID:0110727;DOID:0110721;DOID:0110729;DOID:0110730,ICD10 ID:E75.4, +BMGC_DS22311,BMG_DS082206,,,,,Mucopolysaccharidosis type 1,ICD11 ID:5C56.30,,,,,Scheie syndrome,DOID:0060222,ICD10 ID:E76.0, +BMGC_DS22312,BMG_DS082211,,,,,Primary hypercholesterolaemia,ICD11 ID:5C80.00,,,,,autosomal recessive hypercholesterolemia,DOID:0090105,ICD10 ID:E78.0, +BMGC_DS22313,BMG_DS082223,,,,,"Disorders of iron metabolism, unspecified",ICD11 ID:5C64.1Z,,,,,hemochromatosis type 1 | African iron overload | hemochromatosis type 5,DOID:0111029;DOID:0111033;DOID:0111031,ICD10 ID:E83.1, +BMGC_DS22314,BMG_DS082225,,,,,"Disorders of magnesium metabolism, unspecified",ICD11 ID:5C64.4Z,,,,,renal hypomagnesemia 2 | renal hypomagnesemia 4 | intestinal hypomagnesemia 1 | primary hypomagnesemia | renal hypomagnesemia 3 | renal hypomagnesemia 6,DOID:0060885;DOID:0060879;DOID:0060884;DOID:0060883;DOID:0060880;DOID:0060882,ICD10 ID:E83.4, +BMGC_DS22315,BMG_DS082226,,,,,Disorders of calcium metabolism,ICD11 ID:5C64.5,,,,,familial hypocalciuric hypercalcemia 3 | familial hypocalciuric hypercalcemia 2 | familial hypocalciuric hypercalcemia | familial hypocalciuric hypercalcemia 1,DOID:0060699;DOID:0060701;DOID:0060700;DOID:0060702,ICD10 ID:E83.5, +BMGC_DS22316,BMG_DS082230,,,,,Nonneuropathic heredofamilial amyloidosis,ICD11 ID:5D00.21,,,,,TNF receptor–associated periodic syndrome | CINCA Syndrome,DOID:0090029;DOID:0090018,ICD10 ID:E85.0, +BMGC_DS22317,BMG_DS082251,,,,,Dementia due to cerebrovascular disease,ICD11 ID:6D81,,,,,CADASIL 1 | CADASIL 2,DOID:0111035;DOID:0111036,ICD10 ID:F01.1, +BMGC_DS22318,BMG_DS082273,,,,,Mild neurocognitive disorder,ICD11 ID:6D71,,,,,,,ICD10 ID:F06.7, +BMGC_DS22319,BMG_DS082454,,,,,Post traumatic stress disorder,ICD11 ID:6B40,,,,,,,ICD10 ID:F43.1, +BMGC_DS22320,BMG_DS082479,,,,,"Anorexia Nervosa, unspecified",ICD11 ID:6B80.Z,,,,,,,ICD10 ID:F50.0, +BMGC_DS22321,BMG_DS082556,,,,,"Disorder of intellectual development, moderate",ICD11 ID:6A00.1,,,,,X-linked intellectual disability-psychosis-macroorchidism syndrome,DOID:0060827,ICD10 ID:F71.1, +BMGC_DS22322,BMG_DS082559,,,,,,,,,,,syndromic X-linked intellectual disability 94,DOID:0060823,ICD10 ID:F72, +BMGC_DS22323,BMG_DS082590,,,,,Rett syndrome,ICD11 ID:LD90.4,,,,,,,ICD10 ID:F84.2, +BMGC_DS22324,BMG_DS082646,,,,,,,,,,,Huntington's disease-like 2 | Huntington's disease-like 1,DOID:0090104;DOID:0090103,ICD10 ID:G10, +BMGC_DS22325,BMG_DS082648,,,,,"Ataxic disorders, unspecified",ICD11 ID:8A03.Z,,,,,hypomyelinating leukodystrophy 11 | hypomyelinating leukodystrophy 8 | hypomyelinating leukodystrophy 7,DOID:0060792;DOID:0060797;DOID:0060794,ICD10 ID:G11.1, +BMGC_DS22326,BMG_DS082650,,,,,"Hereditary spastic paraplegia, unspecified",ICD11 ID:8B44.0Z,,,,,hereditary spastic paraplegia 32 | Troyer syndrome | hereditary spastic paraplegia 56 | hereditary spastic paraplegia 17 | hereditary spastic paraplegia 7 | hereditary spastic paraplegia 11 | hereditary spastic paraplegia 12 | hereditary spastic paraplegia 30 | hereditary spastic paraplegia 34 | hereditary spastic paraplegia 39 | hereditary spastic paraplegia 49 | hereditary spastic paraplegia 10 | hereditary spastic paraplegia 62 | hereditary spastic paraplegia 36 | hereditary spastic paraplegia 4 | hereditary spastic paraplegia 9B | hereditary spastic paraplegia 75 | hereditary spastic paraplegia 29 | hereditary spastic paraplegia 57 | hereditary spastic paraplegia 27 | hereditary spastic paraplegia 54 | hereditary spastic paraplegia 63 | hereditary spastic paraplegia 37 | hereditary spastic paraplegia 48 | hereditary spastic paraplegia 73 | hereditary spastic paraplegia 72A | hereditary spastic paraplegia 6 | hereditary spastic paraplegia 19 | hereditary spastic paraplegia 5A | hereditary spastic paraplegia 3A | hereditary spastic paraplegia 45 | hereditary spastic paraplegia 42 | hereditary spastic paraplegia 38 | hereditary spastic paraplegia 14 | hereditary spastic paraplegia 77 | hereditary spastic paraplegia 43 | hereditary spastic paraplegia 25 | hereditary spastic paraplegia 18 | hereditary spastic paraplegia 55 | hereditary spastic paraplegia 64 | hereditary spastic paraplegia 9A | hereditary spastic paraplegia 8 | hereditary spastic paraplegia 16 | hereditary spastic paraplegia 2 | hereditary spastic paraplegia 41 | hereditary spastic paraplegia 46 | hereditary spastic paraplegia 15 | hereditary spastic paraplegia 28 | hereditary spastic paraplegia 26 | hereditary spastic paraplegia 31 | hereditary spastic paraplegia 44 | hereditary spastic paraplegia 35 | hereditary spastic paraplegia 24 | hereditary spastic paraplegia 13 | hereditary spastic paraplegia 53 | hereditary spastic paraplegia 61 | hereditary spastic paraplegia 23,DOID:0110795;DOID:0110793;DOID:0110809;DOID:0110785;DOID:0110787;DOID:0110794;DOID:0110789;DOID:0110811;DOID:0110823;DOID:0110774;DOID:0110813;DOID:0110820;DOID:0110771;DOID:0110772;DOID:0110800;DOID:0110766;DOID:0110790;DOID:0110791;DOID:0110773;DOID:0110767;DOID:0110782;DOID:0110816;DOID:0110824;DOID:0110781;DOID:0110765;DOID:0110798;DOID:0110797;DOID:0110777;DOID:0110780;DOID:0050886;DOID:0110792;DOID:0110764;DOID:0110806;DOID:0110776;DOID:0110801;DOID:0110810;DOID:0110775;DOID:0110805;DOID:0110808;DOID:0110768;DOID:0110783;DOID:0110796;DOID:0110807;DOID:0110818;DOID:0110822;DOID:0110817;DOID:0110825;DOID:0110815;DOID:0110763;DOID:0110779;DOID:0110812;DOID:0110769;DOID:0110788;DOID:0110786;DOID:0110778;DOID:0110814;DOID:0110770,ICD10 ID:G11.4, +BMGC_DS22327,BMG_DS082652,,,,,"Motor neuron disease, unspecified",ICD11 ID:8B60.Z,,,,,amyotrophic lateral sclerosis type 2 | amyotrophic lateral sclerosis type 1 | autosomal recessive distal hereditary motor neuronopathy 1 | amyotrophic lateral sclerosis type 4,DOID:0060193;DOID:0060194;DOID:0111064;DOID:0060196,ICD10 ID:G12.2, +BMGC_DS22328,BMG_DS082658,,,,,Iron overload diseases,ICD11 ID:5C64.10,,,,,neurodegeneration with brain iron accumulation 6 | neurodegeneration with brain iron accumulation 2a | neurodegeneration with brain iron accumulation 2b | neurodegeneration with brain iron accumulation 4 | neurodegeneration with brain iron accumulation 5,DOID:0110740;DOID:0110735;DOID:0110739;DOID:0110738;DOID:0110736,ICD10 ID:G23.0, +BMGC_DS22329,BMG_DS082683,,,,,"Multiple sclerosis or other white matter disorders, unspecified",ICD11 ID:8A4Z,,,,,hypomyelinating leukodystrophy 5,DOID:0060793,ICD10 ID:G37.8, +BMGC_DS22330,BMG_DS082707,,,,,"Transient ischaemic attack, unspecified",ICD11 ID:8B10.Z,,,,,,,ICD10 ID:G45.9, +BMGC_DS22331,BMG_DS082765,,,,,,ICD11 ID:8C03.Y/5D2Z,,,,,,,ICD10 ID:G63.3, +BMGC_DS22332,BMG_DS082768,,,,,,ICD11 ID:8C03.Y/FC0Z,,,,,,,ICD10 ID:G63.6, +BMGC_DS22333,BMG_DS082773,,,,,"Muscular dystrophy, unspecified",ICD11 ID:8C70.Z,,,,,autosomal recessive limb-girdle muscular dystrophy type 2P | autosomal recessive limb-girdle muscular dystrophy type 2K | autosomal recessive limb-girdle muscular dystrophy type 2Y | autosomal recessive limb-girdle muscular dystrophy type 2O | autosomal recessive limb-girdle muscular dystrophy type 2T | autosomal recessive limb-girdle muscular dystrophy type 2A | autosomal dominant limb-girdle muscular dystrophy type 3 | autosomal recessive limb-girdle muscular dystrophy type 2G | autosomal dominant limb-girdle muscular dystrophy type 2 | autosomal recessive limb-girdle muscular dystrophy type 2S | autosomal recessive limb-girdle muscular dystrophy type 2F | autosomal recessive limb-girdle muscular dystrophy type 2H | autosomal recessive limb-girdle muscular dystrophy type 2L | autosomal dominant limb-girdle muscular dystrophy type 1 | autosomal dominant limb-girdle muscular dystrophy type 1H | autosomal recessive limb-girdle muscular dystrophy type 2Q | autosomal recessive limb-girdle muscular dystrophy type 2U | autosomal recessive limb-girdle muscular dystrophy type 2E | autosomal recessive limb-girdle muscular dystrophy type 2J | autosomal recessive limb-girdle muscular dystrophy type 2C | myofibrillar myopathy 1 | autosomal recessive limb-girdle muscular dystrophy | autosomal recessive limb-girdle muscular dystrophy type 2B | autosomal recessive limb-girdle muscular dystrophy type 2M | autosomal dominant limb-girdle muscular dystrophy | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | autosomal recessive limb-girdle muscular dystrophy type 2D | autosomal recessive limb-girdle muscular dystrophy type 2N | autosomal recessive limb-girdle muscular dystrophy type 2I,DOID:0110297;DOID:0110279;DOID:0110285;DOID:0110282;DOID:0110275;DOID:0110284;DOID:0110283;DOID:0110287;DOID:0110277;DOID:0110304;DOID:0110292;DOID:0080092;DOID:0110289;DOID:0110299;DOID:0110274;DOID:0110294;DOID:0110280;DOID:0110278;DOID:0110295;DOID:0110303;DOID:0110293;DOID:0070247;DOID:0110281;DOID:0110276;DOID:0110306;DOID:0110296;DOID:0110298;DOID:0110305;DOID:0110273,ICD10 ID:G71.0, +BMGC_DS22334,BMG_DS082774,,,,,"Myotonic disorders, unspecified",ICD11 ID:8C71.Z,,,,,Schwartz-Jampel syndrome 1,DOID:0090005,ICD10 ID:G71.1, +BMGC_DS22335,BMG_DS082775,,,,,"Congenital myopathies, unspecified",ICD11 ID:8C72.Z,,,,,congenital muscular dystrophy due to integrin alpha-7 deficiency | muscular dystrophy-dystroglycanopathy type B5 | congenital muscular dystrophy 1B | megaconial type congenital muscular dystrophy | muscular dystrophy-dystroglycanopathy | congenital muscular dystrophy due to LMNA mutation | muscular dystrophy-dystroglycanopathy type B6,DOID:0110635;DOID:0110640;DOID:0110639;DOID:0110637;DOID:0110634;DOID:0110632;DOID:0112374,ICD10 ID:G71.2, +BMGC_DS22336,BMG_DS082879,,,,,,,,,,,posterior polymorphous corneal dystrophy 2 | posterior polymorphous corneal dystrophy 1 | posterior polymorphous corneal dystrophy 3,DOID:0110855;DOID:0110857;DOID:0110856,ICD10 ID:H18.50, +BMGC_DS22337,BMG_DS083025,,,,,Acquired sensorineural hearing loss,ICD11 ID:AB51.1,,,,,autosomal recessive nonsyndromic deafness 48 | autosomal dominant nonsyndromic deafness 65 | autosomal recessive nonsyndromic deafness 68 | autosomal recessive nonsyndromic deafness 47 | autosomal recessive nonsyndromic deafness 1B | autosomal dominant nonsyndromic deafness 23 | autosomal recessive nonsyndromic deafness 7 | autosomal dominant nonsyndromic deafness 50 | autosomal dominant nonsyndromic deafness 69 | autosomal recessive nonsyndromic deafness 30 | autosomal recessive nonsyndromic deafness 61 | autosomal dominant nonsyndromic deafness 66 | autosomal dominant nonsyndromic deafness 16 | autosomal recessive nonsyndromic deafness 8 | autosomal recessive nonsyndromic deafness 77 | autosomal recessive nonsyndromic deafness 53 | autosomal recessive nonsyndromic deafness 84A | autosomal recessive nonsyndromic deafness 17 | autosomal dominant auditory neuropathy 1 | autosomal recessive nonsyndromic deafness 62 | autosomal recessive nonsyndromic deafness 63 | autosomal recessive nonsyndromic deafness 65 | autosomal recessive nonsyndromic deafness 59 | autosomal recessive nonsyndromic deafness 46 | autosomal dominant nonsyndromic deafness 48 | autosomal recessive nonsyndromic deafness | autosomal recessive nonsyndromic deafness 31 | autosomal recessive nonsyndromic deafness 26 | autosomal recessive nonsyndromic deafness 14 | autosomal recessive nonsyndromic deafness 2 | autosomal dominant nonsyndromic deafness 25 | autosomal recessive nonsyndromic deafness 102 | autosomal recessive nonsyndromic deafness 71 | autosomal recessive nonsyndromic deafness 18B | autosomal recessive nonsyndromic deafness 4 | autosomal dominant nonsyndromic deafness 28 | autosomal dominant nonsyndromic deafness 30 | autosomal dominant nonsyndromic deafness 4B | autosomal dominant nonsyndromic deafness 15 | autosomal recessive nonsyndromic deafness 85 | autosomal dominant nonsyndromic deafness 41 | autosomal recessive nonsyndromic deafness 33 | autosomal dominant nonsyndromic deafness 53 | autosomal dominant nonsyndromic deafness 67 | autosomal dominant nonsyndromic deafness 36 | autosomal dominant nonsyndromic deafness 68 | autosomal dominant nonsyndromic deafness | autosomal dominant nonsyndromic deafness 6 | autosomal recessive nonsyndromic deafness 25 | autosomal dominant nonsyndromic deafness 18 | autosomal dominant nonsyndromic deafness 33 | autosomal dominant nonsyndromic deafness 70 | autosomal dominant nonsyndromic deafness 56 | autosomal dominant nonsyndromic deafness 31 | autosomal recessive nonsyndromic deafness 98 | autosomal dominant nonsyndromic deafness 54 | autosomal recessive nonsyndromic deafness 16 | autosomal recessive nonsyndromic deafness 1A | autosomal recessive nonsyndromic deafness 22 | autosomal dominant nonsyndromic deafness 11 | autosomal recessive nonsyndromic deafness 9 | autosomal recessive nonsyndromic deafness 35 | autosomal recessive nonsyndromic deafness 21 | autosomal recessive nonsyndromic deafness 37 | autosomal dominant nonsyndromic deafness 12 | autosomal recessive nonsyndromic deafness 28 | autosomal recessive nonsyndromic deafness 101 | autosomal recessive nonsyndromic deafness 39 | autosomal recessive nonsyndromic deafness 91 | autosomal recessive nonsyndromic deafness 15 | autosomal recessive nonsyndromic deafness 84B | autosomal recessive nonsyndromic deafness 74 | autosomal recessive nonsyndromic deafness 93 | autosomal dominant nonsyndromic deafness 44 | autosomal recessive nonsyndromic deafness 96 | autosomal dominant nonsyndromic deafness 51 | autosomal recessive nonsyndromic deafness 38 | autosomal recessive nonsyndromic deafness 83 | autosomal dominant nonsyndromic deafness 58 | autosomal recessive nonsyndromic deafness 40 | autosomal recessive nonsyndromic deafness 51 | autosomal dominant nonsyndromic deafness 3B | autosomal dominant nonsyndromic deafness 24 | autosomal recessive nonsyndromic deafness 29 | autosomal recessive nonsyndromic deafness 55 | autosomal recessive nonsyndromic deafness 20 | autosomal recessive nonsyndromic deafness 13 | autosomal dominant nonsyndromic deafness 7 | autosomal recessive nonsyndromic deafness 32 | autosomal recessive nonsyndromic deafness 42 | autosomal recessive nonsyndromic deafness 5 | autosomal dominant nonsyndromic deafness 49 | autosomal dominant nonsyndromic deafness 21 | autosomal dominant nonsyndromic deafness 17 | autosomal recessive nonsyndromic deafness 104 | autosomal dominant nonsyndromic deafness 22 | autosomal recessive nonsyndromic deafness 97 | autosomal recessive nonsyndromic deafness 49 | autosomal dominant nonsyndromic deafness 59 | autosomal dominant nonsyndromic deafness 2A | autosomal dominant nonsyndromic deafness 3A | autosomal recessive nonsyndromic deafness 67 | autosomal dominant nonsyndromic deafness 27 | autosomal dominant nonsyndromic deafness 43 | autosomal recessive nonsyndromic deafness 70 | autosomal dominant nonsyndromic deafness 13 | autosomal recessive nonsyndromic deafness 24 | autosomal recessive nonsyndromic deafness 36 | autosomal dominant nonsyndromic deafness 2B | autosomal dominant nonsyndromic deafness 40 | autosomal dominant nonsyndromic deafness 47 | autosomal recessive nonsyndromic deafness 66 | autosomal dominant nonsyndromic deafness 20 | X-linked nonsyndromic deafness | autosomal recessive nonsyndromic deafness 76 | autosomal recessive nonsyndromic deafness 88 | autosomal dominant nonsyndromic deafness 4A | autosomal recessive nonsyndromic deafness 23 | autosomal recessive nonsyndromic deafness 12 | autosomal recessive nonsyndromic deafness 6 | autosomal recessive nonsyndromic deafness 45 | autosomal recessive nonsyndromic deafness 86 | autosomal recessive nonsyndromic deafness 89 | autosomal dominant nonsyndromic deafness 64 | autosomal recessive nonsyndromic deafness 103 | autosomal dominant nonsyndromic deafness 9 | autosomal recessive nonsyndromic deafness 79 | autosomal dominant nonsyndromic deafness 1 | autosomal dominant nonsyndromic deafness 5 | autosomal recessive nonsyndromic deafness 18A | autosomal recessive nonsyndromic deafness 27 | autosomal recessive nonsyndromic deafness 3 | autosomal recessive nonsyndromic deafness 44 | autosomal dominant nonsyndromic deafness 10,DOID:0110544;DOID:0110572;DOID:0110556;DOID:0110589;DOID:0110479;DOID:0110489;DOID:0050566;DOID:0110480;DOID:0110584;DOID:0110514;DOID:0110472;DOID:0110523;DOID:0110580;DOID:0110465;DOID:0110543;DOID:0110588;DOID:0110583;DOID:0110515;DOID:0110478;DOID:0110527;DOID:0110564;DOID:0110492;DOID:0110560;DOID:0110558;DOID:0110522;DOID:0110503;DOID:0110476;DOID:0110474;DOID:0110497;DOID:0110568;DOID:0110567;DOID:0110469;DOID:0110512;DOID:0110576;DOID:0110506;DOID:0110557;DOID:0110486;DOID:0110545;DOID:0110586;DOID:0110463;DOID:0110585;DOID:0110490;DOID:0110575;DOID:0110541;DOID:0110561;DOID:0110504;DOID:0110593;DOID:0110547;DOID:0110498;DOID:0110555;DOID:0110482;DOID:0110562;DOID:0110571;DOID:0110511;DOID:0110590;DOID:0110496;DOID:0110536;DOID:0110513;DOID:0110552;DOID:0110495;DOID:0110499;DOID:0110484;DOID:0110530;DOID:0110534;DOID:0110501;DOID:0110546;DOID:0110565;DOID:0110467;DOID:0110475;DOID:0110526;DOID:0110579;DOID:0050564;DOID:0110468;DOID:0110507;DOID:0110563;DOID:0110540;DOID:0110508;DOID:0110505;DOID:0110577;DOID:0110477;DOID:0110587;DOID:0110566;DOID:0110471;DOID:0110531;DOID:0110488;DOID:0110569;DOID:0110535;DOID:0110473;DOID:0110559;DOID:0110592;DOID:0110516;DOID:0110582;DOID:0110533;DOID:0110493;DOID:0110553;DOID:0110581;DOID:0110470;DOID:0110520;DOID:0110481;DOID:0110537;DOID:0110548;DOID:0110510;DOID:0110485;DOID:0110519;DOID:0110464;DOID:0110525;DOID:0110549;DOID:0060690;DOID:0110509;DOID:0110538;DOID:0110462;DOID:0110487;DOID:0110529;DOID:0110573;DOID:0110554;DOID:0110494;DOID:0110517;DOID:0110491;DOID:0110521;DOID:0110539;DOID:0110551;DOID:0110542;DOID:0110570;DOID:0110574;DOID:0050565;DOID:0110591;DOID:0110500;DOID:0110518;DOID:0110483;DOID:0110502;DOID:0110550;DOID:0110524;DOID:0110528;DOID:0110532,ICD10 ID:H90.3, +BMGC_DS22338,BMG_DS083051,,,,,,ICD11 ID:BA02/GB6Z,,,,,,,ICD10 ID:I12.0, +BMGC_DS22339,BMG_DS083109,,,,,"Dilated cardiomyopathy, unspecified",ICD11 ID:BC43.0Z,,,,,dilated cardiomyopathy 2B | dilated cardiomyopathy 1FF | dilated cardiomyopathy 1S | dilated cardiomyopathy 1L | dilated cardiomyopathy 1C | dilated cardiomyopathy 1JJ | dilated cardiomyopathy 1Q | dilated cardiomyopathy 1CC | dilated cardiomyopathy 1DD | dilated cardiomyopathy 1NN | dilated cardiomyopathy 1Z | dilated cardiomyopathy 1V | dilated cardiomyopathy 1T | dilated cardiomyopathy 1I | dilated cardiomyopathy 1H | dilated cardiomyopathy 1R | dilated cardiomyopathy 1W | dilated cardiomyopathy 1II | dilated cardiomyopathy 1HH | dilated cardiomyopathy 1GG | dilated cardiomyopathy 1B | dilated cardiomyopathy 1P | dilated cardiomyopathy 1KK | dilated cardiomyopathy 1X | dilated cardiomyopathy 1M | dilated cardiomyopathy 1E | dilated cardiomyopathy 1EE | dilated cardiomyopathy 2A | dilated cardiomyopathy 1BB | dilated cardiomyopathy 1Y | dilated cardiomyopathy 1O | dilated cardiomyopathy 1AA | dilated cardiomyopathy 1K | dilated cardiomyopathy 1D | dilated cardiomyopathy 1U | dilated cardiomyopathy 1G,DOID:0110433;DOID:0110432;DOID:0110434;DOID:0110423;DOID:0110424;DOID:0110457;DOID:0110460;DOID:0110450;DOID:0110454;DOID:0110449;DOID:0110452;DOID:0110430;DOID:0110456;DOID:0110431;DOID:0110435;DOID:0110438;DOID:0110436;DOID:0110459;DOID:0110427;DOID:0110446;DOID:0110453;DOID:0110441;DOID:0110448;DOID:0110439;DOID:0110455;DOID:0110437;DOID:0110429;DOID:0110442;DOID:0110451;DOID:0110428;DOID:0110444;DOID:0110443;DOID:0110458;DOID:0110445;DOID:0110447;DOID:0110426,ICD10 ID:I42.0, +BMGC_DS22340,BMG_DS083114,,,,,,,,,,,catecholaminergic polymorphic ventricular tachycardia 1,DOID:0060675,ICD10 ID:I42.8 | ICD10 ID:I47.2, +BMGC_DS22341,BMG_DS083128,,,,,"Conduction disorders, unspecified",ICD11 ID:BC63.Z,,,,,long QT syndrome 14 | long QT syndrome 1 | long QT syndrome 13 | long QT syndrome 15,DOID:0110644;DOID:0110655;DOID:0110654;DOID:0110656,ICD10 ID:I45.8, +BMGC_DS22342,BMG_DS083134,,,,,"Ventricular tachycardia, unspecified",ICD11 ID:BC71.0Z,,,,,catecholaminergic polymorphic ventricular tachycardia 2 | catecholaminergic polymorphic ventricular tachycardia 5 | catecholaminergic polymorphic ventricular tachycardia | catecholaminergic polymorphic ventricular tachycardia 3 | catecholaminergic polymorphic ventricular tachycardia 4,DOID:0060677;DOID:0060678;DOID:0060676;DOID:0060674;DOID:0060679,ICD10 ID:I47.2, +BMGC_DS22343,BMG_DS083234,,,,,BuddChiari syndrome,ICD11 ID:DB98.5,,,,,,,ICD10 ID:I82.0, +BMGC_DS22344,BMG_DS083257,,,,,,ICD11 ID:DA26.00/DB96.0,,,,,,,ICD10 ID:I98.3, +BMGC_DS22345,BMG_DS083312,,,,,Allergic asthma,ICD11 ID:CA23.0,,,,,,,ICD10 ID:J45.0, +BMGC_DS22346,BMG_DS083314,,,,,Asthma,ICD11 ID:CA23,,,,,,,ICD10 ID:J45.8, +BMGC_DS22347,BMG_DS083341,,,,,,ICD11 ID:CB05.1/FA20.Z,,,,,,,ICD10 ID:J99.0, +BMGC_DS22348,BMG_DS083347,,,,,"Structural developmental anomalies of teeth and periodontal tissues, unspecified",ICD11 ID:LA30.Z,,,,,amelogenesis imperfecta type 1B | amelogenesis imperfecta type 1G | amelogenesis imperfecta type 4 | amelogenesis imperfecta type 1A | amelogenesis imperfecta type 1C | amelogenesis imperfecta type 1E | amelogenesis imperfecta type 1F | amelogenesis imperfecta type 2A1 | amelogenesis imperfecta hypomaturation type 2A3 | amelogenesis imperfecta hypomaturation type 2A2 | amelogenesis imperfecta type 1H | amelogenesis imperfecta hypomaturation type 2A4 | amelogenesis imperfecta hypomaturation type 2A5 | amelogenesis imperfecta type 3A | X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2,DOID:0110061;DOID:0110065;DOID:0110053;DOID:0110054;DOID:0110057;DOID:0110060;DOID:0110056;DOID:0110062;DOID:0110064;DOID:0110063;DOID:0110066;DOID:0110059;DOID:0110055;DOID:0110052;DOID:0110058,ICD10 ID:K00.5, +BMGC_DS22349,BMG_DS083410,,,,,"Columnar metaplastic epithelium of the oesophagus, unspecified",ICD11 ID:DA23.Z,,,,,,,ICD10 ID:K22.7, +BMGC_DS22350,BMG_DS083412,,,,,,ICD11 ID:1B12.7/DA24.0Y,,,,,,,ICD10 ID:K23.0, +BMGC_DS22351,BMG_DS083414,,,,,,ICD11 ID:XA0828/DA21.Y,,,,,,,ICD10 ID:K23.1, +BMGC_DS22352,BMG_DS083456,,,,,,ICD11 ID:XK9J/ME24.2,,,,,,,ICD10 ID:K40.0, +BMGC_DS22353,BMG_DS083458,,,,,,ICD11 ID:XK9J/ME24.8,,,,,,,ICD10 ID:K40.1, +BMGC_DS22354,BMG_DS083461,,,,,,ICD11 ID:DD51/ME24.2,,,,,,,ICD10 ID:K40.3, +BMGC_DS22355,BMG_DS083462,,,,,,ICD11 ID:DD51/ME24.8,,,,,,,ICD10 ID:K40.4, +BMGC_DS22356,BMG_DS083465,,,,,,ICD11 ID:XK9J/ME24.2,,,,,,,ICD10 ID:K41.0, +BMGC_DS22357,BMG_DS083468,,,,,,ICD11 ID:XT44/ME24.8,,,,,,,ICD10 ID:K41.1, +BMGC_DS22358,BMG_DS083471,,,,,,ICD11 ID:DD52/ME24.2,,,,,,,ICD10 ID:K41.3, +BMGC_DS22359,BMG_DS083472,,,,,,ICD11 ID:DD52/ME24.8,,,,,,,ICD10 ID:K41.4, +BMGC_DS22360,BMG_DS083474,,,,,,ICD11 ID:DD53/ME24.2,,,,,,,ICD10 ID:K42.0, +BMGC_DS22361,BMG_DS083476,,,,,,ICD11 ID:DD56/ME24.2,,,,,,,ICD10 ID:K43.0, +BMGC_DS22362,BMG_DS083478,,,,,,ICD11 ID:DD57/ME24.2,,,,,,,ICD10 ID:K43.3, +BMGC_DS22363,BMG_DS083483,,,,,,ICD11 ID:DD50.0/ME24.2,,,,,,,ICD10 ID:K44.0, +BMGC_DS22364,BMG_DS083498,,,,,"Diseases of the digestive system, unspecified",ICD11 ID:DE2Z,,,,,,,ICD10 ID:K59.0, +BMGC_DS22365,BMG_DS083593,,,,,,ICD11 ID:1F53.3/DB32.2Z,,,,,,,ICD10 ID:K93.1, +BMGC_DS22366,BMG_DS083619,,,,,Allergic contact dermatitis due to metals or metal salts,ICD11 ID:EK00.6,,,,,chromium allergic contact dermatitis | nickel allergic contact dermatitis,DOID:0040056;DOID:0040046,ICD10 ID:L23.0, +BMGC_DS22367,BMG_DS083657,,,,,Palmoplantar pustulosis,ICD11 ID:EA90.42,,,,,,,ICD10 ID:L40.3, +BMGC_DS22368,BMG_DS083658,,,,,Guttate psoriasis,ICD11 ID:EA90.1,,,,,,,ICD10 ID:L40.4, +BMGC_DS22369,BMG_DS083669,,,,,,,,,,,familial cold autoinflammatory syndrome 4 | familial cold autoinflammatory syndrome | familial cold autoinflammatory syndrome 3 | familial cold autoinflammatory syndrome 1,DOID:0090061;DOID:0090065;DOID:0090062;DOID:0090064,ICD10 ID:L50.2, +BMGC_DS22370,BMG_DS083779,,,,,,ICD11 ID:1B12.40/FA10.0,,,,,,,ICD10 ID:M01.1, +BMGC_DS22371,BMG_DS083796,,,,,,ICD11 ID:CB05.1/FA20.Z,,,,,,,ICD10 ID:M05.1, +BMGC_DS22372,BMG_DS083807,,,,,,ICD11 ID:FA11.Y/DD70.Z,,,,,,,ICD10 ID:M07.4, +BMGC_DS22373,BMG_DS083808,,,,,,ICD11 ID:FA11.Y/DD71.Z,,,,,,,ICD10 ID:M07.5, +BMGC_DS22374,BMG_DS083812,,,,,Juvenile psoriatic arthritis,ICD11 ID:FA24.2,,,,,,,ICD10 ID:M09.0, +BMGC_DS22375,BMG_DS083813,,,,,,ICD11 ID:FA11.Y/DD70.Z,,,,,,,ICD10 ID:M09.1, +BMGC_DS22376,BMG_DS083831,,,,,,ICD11 ID:5D00.0/FA38.Z,,,,,,,ICD10 ID:M14.4, +BMGC_DS22377,BMG_DS083857,,,,,"Acquired deformities of limbs, unspecified",ICD11 ID:FA31.Z,,,,,Bruck syndrome,DOID:0060231,ICD10 ID:M21.8, +BMGC_DS22378,BMG_DS083897,,,,,,,,,,,Libman-Sacks endocarditis,DOID:0080740,ICD10 ID:M32.11, +BMGC_DS22379,BMG_DS083903,,,,,Undifferentiated nonorgan specific systemic autoimmune disease,ICD11 ID:4A43.Z,,,,,,,ICD10 ID:M35.0, +BMGC_DS22380,BMG_DS083993,,,,,,ICD11 ID:1A62.21/FB50.0,,,,,,,ICD10 ID:M73.1, +BMGC_DS22381,BMG_DS084120,,,,,,ICD11 ID:XT8W/MF8Y,,,,,,,ICD10 ID:N03.2, +BMGC_DS22382,BMG_DS084122,,,,,,ICD11 ID:XT8W/MF8Y,,,,,,,ICD10 ID:N03.3, +BMGC_DS22383,BMG_DS084124,,,,,,ICD11 ID:XT8W/MF8Y,,,,,,,ICD10 ID:N03.4, +BMGC_DS22384,BMG_DS084185,,,,,"Neuromuscular dysfunction of bladder, not elsewhere classified",ICD11 ID:GC01.4,,,,,,,ICD10 ID:N31.0, +BMGC_DS22385,BMG_DS084239,,,,,,ICD11 ID:1B12.5/GA04,,,,,,,ICD10 ID:N74.0, +BMGC_DS22386,BMG_DS084242,,,,,,ICD11 ID:1A71/GA05.Z,,,,,,,ICD10 ID:N74.3, +BMGC_DS22387,BMG_DS084243,,,,,,ICD11 ID:1A81.1/GA05.Z,,,,,,,ICD10 ID:N74.4, +BMGC_DS22388,BMG_DS084465,,,,,Gestational pemphigoid,ICD11 ID:JA65.10,,,,,pemphigus gestationis,DOID:0040098,ICD10 ID:O26.4, +BMGC_DS22389,BMG_DS085000,,,,,"Cerebral structural developmental anomalies, unspecified",ICD11 ID:LA05.Z,,,,,short-rib thoracic dysplasia 14 with polydactyly | pontocerebellar hypoplasia type 7 | pontocerebellar hypoplasia type 9 | pontocerebellar hypoplasia type 2D | complex cortical dysplasia with other brain malformations 1 | syndromic X-linked intellectual disability Najm type | Joubert syndrome | pontocerebellar hypoplasia type 8,DOID:0110096;DOID:0060807;DOID:0060277;DOID:0060270;DOID:0060278;DOID:0090137;DOID:0060276;DOID:0050777,ICD10 ID:Q04.3, +BMGC_DS22390,BMG_DS085036,,,,,Congenital cataract,ICD11 ID:LA12.1,,,,,cataract 9 multiple types | cataract 42 | cataract 39 multiple types | cataract 29 | cataract 43 | cataract 45 | cataract 38 | cataract 2 multiple types | cataract 23 | cataract 22 multiple types | cataract 20 multiple types | cataract 35 | cataract 5 multiple types | cataract 14 multiple types | cataract 37 | cataract 17 multiple types | cataract 21 multiple types | cataract 34 multiple types | cataract 41 | cataract 12 multiple types | cataract 31 multiple types | cataract 32 multiple types | cataract 3 multiple types | cataract 18 | cataract 6 multiple types | cataract 16 multiple types | cataract 10 multiple types | cataract 19 multiple types | cataract 46 juvenile-onset | cataract 26 multiple types | cataract 24 | cataract 40 | cataract 7 | cataract 25 | cataract 11 multiple types | cataract 1 multiple types | cataract 30 | cataract 8 multiple types | cataract 27 | cataract 33 | cataract 15 multiple types | cataract 13 with adult i phenotype | cataract 4 multiple types | cataract 44,DOID:0110245;DOID:0110261;DOID:0110237;DOID:0110235;DOID:0110271;DOID:0110239;DOID:0110272;DOID:0110270;DOID:0110236;DOID:0110249;DOID:0110229;DOID:0110246;DOID:0110251;DOID:0110263;DOID:0110253;DOID:0110227;DOID:0110267;DOID:0110257;DOID:0110256;DOID:0110234;DOID:0110254;DOID:0110241;DOID:0110268;DOID:0110250;DOID:0110231;DOID:0110260;DOID:0110242;DOID:0110266;DOID:0110265;DOID:0110240;DOID:0110230;DOID:0110262;DOID:0110258;DOID:0110259;DOID:0110269;DOID:0110243;DOID:0110248;DOID:0110233;DOID:0110228;DOID:0110232;DOID:0110238;DOID:0110255;DOID:0110252;DOID:0110264,ICD10 ID:Q12.0, +BMGC_DS22391,BMG_DS085047,,,,,"Structural developmental anomalies of the anterior segment of eye, unspecified",ICD11 ID:LA11.Z,,,,,cornea plana,DOID:0060287,ICD10 ID:Q13.4, +BMGC_DS22392,BMG_DS085049,,,,,"Structural developmental anomalies of the anterior segment of eye, unspecified",ICD11 ID:LA11.Z,,,,,Axenfeld-Rieger syndrome type 1 | Axenfeld-Rieger syndrome type 2 | anterior segment dysgenesis | Axenfeld-Rieger syndrome type 3,DOID:0060648;DOID:0110122;DOID:0110121;DOID:0110120,ICD10 ID:Q13.8, +BMGC_DS22393,BMG_DS085052,,,,,Congenital vitreoretinal dysplasia,ICD11 ID:LA13.3,,,,,X-linked juvenile retinoschisis 1,DOID:0060763,ICD10 ID:Q14.1, +BMGC_DS22394,BMG_DS085087,,,,,Transposition of the great arteries,ICD11 ID:LA85.1,,,,,multiple types of congenital heart defects 6 | dextro-looped transposition of the great arteries,DOID:0060772;DOID:0060770,ICD10 ID:Q20.3, +BMGC_DS22395,BMG_DS085090,,,,,Other specified structural developmental anomaly of heart or great vessels,ICD11 ID:LA8Y,,,,,right atrial isomerism,DOID:0060856,ICD10 ID:Q20.6, +BMGC_DS22396,BMG_DS085094,,,,,"Congenital anomaly of atrial septum, unspecified",ICD11 ID:LA8E.Z,,,,,atrial heart septal defect 8 | atrial heart septal defect 1 | atrial heart septal defect 6 | atrial heart septal defect 3 | atrial heart septal defect 2 | atrial heart septal defect 9 | atrial heart septal defect 7 | atrial heart septal defect 4 | atrial heart septal defect 5,DOID:0110113;DOID:0110114;DOID:0110109;DOID:0110112;DOID:0110110;DOID:0110108;DOID:0110111;DOID:0110107;DOID:0110106,ICD10 ID:Q21.1, +BMGC_DS22397,BMG_DS085178,,,,,"Structural developmental anomalies of the respiratory system, unspecified",ICD11 ID:LA7Z,,,,,primary ciliary dyskinesia 22 | primary ciliary dyskinesia 13 | primary ciliary dyskinesia 16 | primary ciliary dyskinesia 23 | primary ciliary dyskinesia 15 | primary ciliary dyskinesia 24 | primary ciliary dyskinesia 8 | primary ciliary dyskinesia 33 | primary ciliary dyskinesia 14 | primary ciliary dyskinesia 11 | primary ciliary dyskinesia 17 | primary ciliary dyskinesia 18 | primary ciliary dyskinesia 19 | primary ciliary dyskinesia 27 | primary ciliary dyskinesia 30 | primary ciliary dyskinesia 7 | primary ciliary dyskinesia 10 | primary ciliary dyskinesia 4 | primary ciliary dyskinesia 5 | primary ciliary dyskinesia 20 | primary ciliary dyskinesia 12 | primary ciliary dyskinesia 3 | primary ciliary dyskinesia 1 | primary ciliary dyskinesia 28 | primary ciliary dyskinesia 6 | primary ciliary dyskinesia 2 | primary ciliary dyskinesia 25 | primary ciliary dyskinesia 9 | primary ciliary dyskinesia 21 | primary ciliary dyskinesia 29 | primary ciliary dyskinesia 32 | primary ciliary dyskinesia 26,DOID:0110604;DOID:0110607;DOID:0110624;DOID:0110611;DOID:0110594;DOID:0110598;DOID:0110614;DOID:0110608;DOID:0110606;DOID:0110602;DOID:0110627;DOID:0110600;DOID:0110622;DOID:0110601;DOID:0110625;DOID:0110615;DOID:0110623;DOID:0110626;DOID:0110619;DOID:0110597;DOID:0110613;DOID:0110616;DOID:0110605;DOID:0110628;DOID:0110621;DOID:0110612;DOID:0110596;DOID:0110618;DOID:0110603;DOID:0110609;DOID:0110599;DOID:0110617,ICD10 ID:Q34.8, +BMGC_DS22398,BMG_DS085181,,,,,,,,,,,isolated cleft palate,DOID:0110213,ICD10 ID:Q35.1 | ICD10 ID:Q35.3 | ICD10 ID:Q35.5 | ICD10 ID:Q35.7 | ICD10 ID:Q35.9, +BMGC_DS22399,BMG_DS085233,,,,,Hirschsprung disease,ICD11 ID:LB16.1,,,,,,,ICD10 ID:Q43.1, +BMGC_DS22400,BMG_DS085243,,,,,Biliary atresia,ICD11 ID:LB20.21,,,,,,,ICD10 ID:Q44.2, +BMGC_DS22401,BMG_DS085264,,,,,Bicornuate uterus,ICD11 ID:LB44.3,,,,,hand-foot-genital syndrome,DOID:0060739,ICD10 ID:Q51.2, +BMGC_DS22402,BMG_DS085308,,,,,Other specified renal agenesis or other reduction defects of kidney,ICD11 ID:LB30.0Y,,,,,renal coloboma syndrome | oligomeganephronia,DOID:0111142;DOID:0090006,ICD10 ID:Q60.4, +BMGC_DS22403,BMG_DS085372,,,,,"Structural developmental anomalies primarily affecting one body system, unspecified",ICD11 ID:LD0Z,,,,,lethal congenital contracture syndrome,DOID:0060558,ICD10 ID:Q68.8, +BMGC_DS22404,BMG_DS085389,,,,,Split hand,ICD11 ID:LB99.8,,,,,split hand-foot malformation 1,DOID:0090021,ICD10 ID:Q71.6, +BMGC_DS22405,BMG_DS085419,,,,,Congenital scoliosis due to congenital bony malformation,ICD11 ID:LB73.25,,,,,brachyolmia-amelogenesis imperfecta syndrome,DOID:0090143,ICD10 ID:Q76.3, +BMGC_DS22406,BMG_DS085420,,,,,"Structural developmental anomalies of spine, unspecified",ICD11 ID:LB73.2Z,,,,,spondylocarpotarsal synostosis syndrome,DOID:0090116,ICD10 ID:Q76.4, +BMGC_DS22407,BMG_DS085428,,,,,,,,,,,short-rib thoracic dysplasia 10 with or without polydactyly,DOID:0110091,ICD10 ID:Q77.2 | ICD10 ID:Q87.5, +BMGC_DS22408,BMG_DS085429,,,,,Chondrodysplasia punctata,ICD11 ID:LD24.04,,,,,autosomal dominant chondrodysplasia punctata | rhizomelic chondrodysplasia punctata type 1,DOID:0110851;DOID:0060293,ICD10 ID:Q77.3, +BMGC_DS22409,BMG_DS085432,,,,,Spondyloepiphyseal or spondyloepimetaphyseal dysplasias,ICD11 ID:LD24.3,,,,,progressive pseudorheumatoid arthropathy of childhood | Silverman-Handmaker type dyssegmental dysplasia,DOID:0090032;DOID:0090004,ICD10 ID:Q77.7, +BMGC_DS22410,BMG_DS085435,,,,,Osteogenesis imperfecta,ICD11 ID:LD24.K0,,,,,"osteogenesis imperfecta type 2 | osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures | osteogenesis imperfecta type 11 | osteogenesis imperfecta type 6 | osteogenesis imperfecta type 13 | osteogenesis imperfecta type 5 | osteogenesis imperfecta type 9 | osteogenesis imperfecta type 10 | osteogenesis imperfecta type 4 | osteogenesis imperfecta type 8 | osteogenesis imperfecta type 17 | osteogenesis imperfecta type 3 | osteogenesis imperfecta type 14 | osteogenesis imperfecta type 16 | osteogenesis imperfecta type 12 | osteogenesis imperfecta type 15",DOID:0110344;DOID:0110338;DOID:0110336;DOID:0110346;DOID:0110340;DOID:0110342;DOID:0110335;DOID:0110348;DOID:0110343;DOID:0110339;DOID:0110341;DOID:0110345;DOID:0110349;DOID:0110351;DOID:0110350;DOID:0110347,ICD10 ID:Q78.0, +BMGC_DS22411,BMG_DS085451,,,,,Autosomal recessive congenital ichthyosis,ICD11 ID:EC20.02,,,,,autosomal recessive congenital ichthyosis 1 | autosomal recessive congenital ichthyosis 5 | autosomal recessive congenital ichthyosis 2 | autosomal recessive congenital ichthyosis 7 | autosomal recessive congenital ichthyosis 4A | autosomal recessive congenital ichthyosis 6 | autosomal recessive congenital ichthyosis 3 | autosomal recessive congenital ichthyosis 8 | autosomal recessive congenital ichthyosis 10 | autosomal recessive congenital ichthyosis 9,DOID:0060710;DOID:0060716;DOID:0060717;DOID:0060719;DOID:0060715;DOID:0060656;DOID:0060711;DOID:0060714;DOID:0060718;DOID:0060712,ICD10 ID:Q80.2, +BMGC_DS22412,BMG_DS085453,,,,,Autosomal recessive congenital ichthyosis,ICD11 ID:EC20.02,,,,,autosomal recessive congenital ichthyosis 4B,DOID:0060713,ICD10 ID:Q80.4, +BMGC_DS22413,BMG_DS085455,,,,,Epidermolysis bullosa simplex,ICD11 ID:EC30,,,,,epidermolysis bullosa simplex Dowling-Meara type | epidermolysis bullosa simplex Ogna type | epidermolysis bullosa simplex with muscular dystrophy,DOID:0060735;DOID:0060736;DOID:0090017,ICD10 ID:Q81.0, +BMGC_DS22414,BMG_DS085456,,,,,Junctional epidermolysis bullosa,ICD11 ID:EC31,,,,,junctional epidermolysis bullosa Herlitz type,DOID:0060737,ICD10 ID:Q81.1, +BMGC_DS22415,BMG_DS085457,,,,,Dystrophic epidermolysis bullosa,ICD11 ID:EC32,,,,,recessive dystrophic epidermolysis bullosa,DOID:0060642,ICD10 ID:Q81.2, +BMGC_DS22416,BMG_DS085458,,,,,Epidermolysis bullosa,ICD11 ID:EC3Z,,,,,junctional epidermolysis bullosa with pyloric atresia | junctional epidermolysis bullosa non-Herlitz type,DOID:0060738;DOID:0060733,ICD10 ID:Q81.8, +BMGC_DS22417,BMG_DS085460,,,,,Xeroderma pigmentosum,ICD11 ID:LD27.1,,,,,xeroderma pigmentosum group E | xeroderma pigmentosum group D | xeroderma pigmentosum group G | xeroderma pigmentosum group A | xeroderma pigmentosum group F | xeroderma pigmentosum group C | xeroderma pigmentosum group B,DOID:0110844;DOID:0110850;DOID:0110845;DOID:0110849;DOID:0110848;DOID:0110846;DOID:0110843,ICD10 ID:Q82.1, +BMGC_DS22418,BMG_DS085483,,,,,"Multiple developmental anomalies or syndromes, unspecified",ICD11 ID:LD2Z,,,,,Noonan syndrome 10 | Noonan syndrome 1 | Noonan syndrome 9 | Noonan syndrome 8 | Noonan syndrome 7 | Seckel syndrome,DOID:0060578;DOID:0050569;DOID:0060588;DOID:0060587;DOID:0060585;DOID:0060586,ICD10 ID:Q87.1, +BMGC_DS22419,BMG_DS085485,,,,,"Multiple developmental anomalies or syndromes, unspecified",ICD11 ID:LD2Z,,,,,"endocrine-cerebro-osteodysplasia syndrome | deafness-intellectual disability, Martin-Probst type syndrome | Duane-radial ray syndrome | syndromic X-linked intellectual disability Nascimento type | syndromic X-linked intellectual disability Cabezas type | syndromic X-linked intellectual disability Claes-Jensen type | syndromic X-linked intellectual disability Turner type | syndromic X-linked intellectual disability Raymond type | Stromme syndrome | Armfield syndrome | syndromic X-linked intellectual disability Shrimpton type | syndromic X-linked intellectual disability Snyder type | syndromic X-linked intellectual disability 12 | syndromic X-linked intellectual disability Shashi type | 3MC syndrome | corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",DOID:0060824;DOID:0050764;DOID:0060830;DOID:0060816;DOID:0060813;DOID:0060804;DOID:0110595;DOID:0060820;DOID:0060822;DOID:0060811;DOID:0060809;DOID:0060641;DOID:0060747;DOID:0060225;DOID:0060826;DOID:0060802,ICD10 ID:Q87.8, +BMGC_DS22420,BMG_DS085486,,,,,,,,,,,Bardet-Biedl syndrome 16 | Bardet-Biedl syndrome 18 | Bardet-Biedl syndrome 19 | Bardet-Biedl syndrome 17 | Bardet-Biedl syndrome 5 | Bardet-Biedl syndrome 15,DOID:0110141;DOID:0110137;DOID:0110138;DOID:0110140;DOID:0110139;DOID:0110127,ICD10 ID:Q87.89, +BMGC_DS22421,BMG_DS085515,,,,,"Deletions of the autosomes, unspecified",ICD11 ID:LD44.Z,,,,,chromosome 13q14 deletion syndrome | chromosome 17q23.1-q23.2 deletion syndrome | chromosome 17q12 deletion syndrome | chromosome 8q21.11 deletion syndrome | chromosome 1q21.1 deletion syndrome | chromosome 16p12.2-p11.2 deletion syndrome | chromosome 1q41-q42 deletion syndrome | 3p deletion syndrome,DOID:0060411;DOID:0060391;DOID:0060400;DOID:0060425;DOID:0060417;DOID:0060412;DOID:0060405;DOID:0060404,ICD10 ID:Q93.5, +BMGC_DS22422,BMG_DS085588,,,,,Halitosis,ICD11 ID:MD94,,,,,,,ICD10 ID:R19.6, +BMGC_DS22423,BMG_DS085718,,,,,"Elevated blood glucose level, unspecified",ICD11 ID:MA18.0Z,,,,,,,ICD10 ID:R73.9, +BMGC_DS22424,BMG_DS086495,,,,,"Unspecified injuries of spine or trunk, level unspecified",ICD11 ID:ND51.Z,,,,,,,ICD10 ID:T09.3, +BMGC_DS22425,BMG_DS086961,,,,,Allergic or hypersensitivity conditions of unspecified type,ICD11 ID:4A8Z,,,,,,,ICD10 ID:T78.4, +BMGC_DS22426,BMG_DS091971,,,,,Obesity,ICD11 ID:5B81,,,,,,,, +BMGC_DS22427,BMG_DS094697,,,,,Cystic fibrosis,ICD11 ID:CA25,,,,,,,, +BMGC_DS22428,BMG_DS095586,,,,,Psoriasis,ICD11 ID:EA90,,,,,,,, +BMGC_DS22429,BMG_DS118713,,,,,,ICD11 ID:XS8H,,,,,,,,